#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TRIM58	25893	broad.mit.edu	37	1	248028031	248028031	+	Missense_Mutation	SNP	C	C	T	rs368652011		TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:248028031C>T	ENST00000366481.3	+	3	589	c.541C>T	c.(541-543)Cgc>Tgc	p.R181C		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	181						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCAGAGGCAGCGCTTCAGATT	0.592																																						ENST00000366481.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63						c.(541-543)Cgc>Tgc		tripartite motif containing 58							78.0	58.0	64.0					1																	248028031		2203	4300	6503	SO:0001583	missense	25893					intracellular	zinc ion binding	g.chr1:248028031C>T	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.541C>T	1.37:g.248028031C>T	ENSP00000355437:p.Arg181Cys						p.R181C	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	589	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	181					Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	c.541C>T	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485560	0.44147	.	.	ENSG00000162722	ENST00000366481	T	0.04706	3.57	4.25	1.24	0.21308	.	0.622326	0.13793	N	0.362392	T	0.16642	0.0400	M	0.87381	2.88	0.21064	N	0.999799	D	0.76494	0.999	P	0.59357	0.856	T	0.06734	-1.0810	10	0.87932	D	0	.	5.1798	0.15154	0.1643:0.6499:0.0:0.1859	.	181	Q8NG06	TRI58_HUMAN	C	181	ENSP00000355437:R181C	ENSP00000355437:R181C	R	+	1	0	TRIM58	246094654	0.058000	0.20735	0.183000	0.23137	0.620000	0.37586	0.582000	0.23834	0.158000	0.19367	-0.140000	0.14226	CGC		0.592	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		15	33	0	0	0	1	0	15	33				
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	40								p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I40T(4)	prostate(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(118-120)aTc>aCc																																						SO:0001583	missense	0							g.chr20:29625875T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.119T>C	20.37:g.29625875T>C	ENSP00000278882:p.Ile40Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T	p.I40T							5	499	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.119T>C		.	.	.	.	.	.	.	.	.	.	t	10.51	1.369778	0.24771	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.51071	0.72	1.68	1.68	0.24146	.	0.052751	0.64402	D	0.000001	T	0.59865	0.2225	.	.	.	0.51482	D	0.999924	P	0.49862	0.929	D	0.64687	0.928	T	0.59386	-0.7464	9	0.52906	T	0.07	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	45	F5H5R5	.	T	40;45;40	ENSP00000408863:I45T	ENSP00000278882:I40T	I	+	2	0	FRG1B	28239536	1.000000	0.71417	0.982000	0.44146	0.025000	0.11179	6.565000	0.73974	1.028000	0.39785	0.155000	0.16302	ATC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	64	0	0	0	1	0	5	64				
TRDN	10345	broad.mit.edu	37	6	123687319	123687319	+	Nonsense_Mutation	SNP	G	G	A	rs202219343		TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr6:123687319G>A	ENST00000398178.3	-	20	1303	c.1282C>T	c.(1282-1284)Cga>Tga	p.R428*	TRDN_ENST00000334268.4_Nonsense_Mutation_p.R428*	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	428					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)	p.R428*(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		TCTTTGGCTCGTTCAGTTTCT	0.303																																						ENST00000334268.4																			1	Substitution - Nonsense(1)	p.R428*(1)	lung(1)	NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41						c.(1282-1284)Cga>Tga		triadin		G	stop/ARG	2,3640		0,2,1819	84.0	81.0	82.0		1282	4.7	0.8	6		82	6,8162		0,6,4078	yes	stop-gained	TRDN	NM_006073.2		0,8,5897	AA,AG,GG		0.0735,0.0549,0.0677		428/730	123687319	8,11802	1821	4084	5905	SO:0001587	stop_gained	10345				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	g.chr6:123687319G>A	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.1282C>T	6.37:g.123687319G>A	ENSP00000381240:p.Arg428*					TRDN_ENST00000398178.3_Nonsense_Mutation_p.R428*	p.R428*			Q13061	TRDN_HUMAN		GBM - Glioblastoma multiforme(226;0.184)	20	1599	-			428					A5D6W5|F5H2W7|Q6NSB8	Nonsense_Mutation	SNP	ENST00000398178.3	37	c.1282C>T	CCDS55053.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.858900	0.91433	5.49E-4	7.35E-4	ENSG00000186439	ENST00000398178;ENST00000398161;ENST00000334268	.	.	.	5.55	4.66	0.58398	.	0.511596	0.16577	N	0.208343	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-0.114	11.1506	0.48455	0.0:0.0:0.7987:0.2013	.	.	.	.	X	428;430;428	.	ENSP00000333984:R428X	R	-	1	2	TRDN	123729018	0.921000	0.31238	0.807000	0.32361	0.308000	0.27856	1.628000	0.37060	1.507000	0.48752	0.655000	0.94253	CGA		0.303	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				5	22	0	0	0	1	0	5	22				
C1orf101	257044	broad.mit.edu	37	1	244773582	244773582	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:244773582T>C	ENST00000366534.4	+	19	2498	c.2444T>C	c.(2443-2445)aTt>aCt	p.I815T	C1orf101_ENST00000366533.4_Missense_Mutation_p.I815T|C1orf101_ENST00000366531.3_Missense_Mutation_p.I664T|C1orf101_ENST00000473875.1_3'UTR	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	815						CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			AAGTCAATGATTGAACTTAAC	0.388																																						ENST00000366534.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36						c.(2443-2445)aTt>aCt		chromosome 1 open reading frame 101							112.0	104.0	106.0					1																	244773582		2203	4300	6503	SO:0001583	missense	257044					integral to membrane		g.chr1:244773582T>C	BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.2444T>C	1.37:g.244773582T>C	ENSP00000355492:p.Ile815Thr					C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366531.3_Missense_Mutation_p.I664T|C1orf101_ENST00000366533.4_Missense_Mutation_p.I815T	p.I815T	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)		19	2498	+	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		815					B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Missense_Mutation	SNP	ENST00000366534.4	37	c.2444T>C	CCDS44340.1	.	.	.	.	.	.	.	.	.	.	T	9.539	1.112966	0.20795	.	.	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533;ENST00000428042;ENST00000366531	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	5.54	-10.1	0.00402	.	1.367020	0.04887	N	0.448821	T	0.11879	0.0289	N	0.16790	0.44	0.09310	N	1	B;B;B;B	0.26081	0.007;0.084;0.141;0.015	B;B;B;B	0.22753	0.005;0.022;0.041;0.019	T	0.11717	-1.0576	10	0.22706	T	0.39	.	8.9254	0.35637	0.1635:0.1036:0.0:0.7329	.	735;815;815;664	B1AQM6;Q5SY80;Q5SY80-2;B4DZR4	.;CA101_HUMAN;.;.	T	815;815;815;735;664	ENSP00000355492:I815T;ENSP00000355491:I815T;ENSP00000395796:I735T;ENSP00000355489:I664T	ENSP00000355489:I664T	I	+	2	0	C1orf101	242840205	0.000000	0.05858	0.000000	0.03702	0.926000	0.56050	-0.906000	0.04071	-2.132000	0.00814	-0.353000	0.07706	ATT		0.388	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096701.1	NM_173807		35	47	0	0	0	1	0	35	47				
RIC1	57589	broad.mit.edu	37	9	5769212	5769212	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr9:5769212C>A	ENST00000414202.2	+	22	3571	c.3380C>A	c.(3379-3381)gCc>gAc	p.A1127D	KIAA1432_ENST00000418622.3_Missense_Mutation_p.A1048D|KIAA1432_ENST00000251879.6_Missense_Mutation_p.A1127D|KIAA1432_ENST00000381532.2_Missense_Mutation_p.A1048D|KIAA1432_ENST00000449720.2_Missense_Mutation_p.A1011D	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		ATCATCCCAGCCTCTTCTATC	0.438																																						ENST00000414202.2																			0				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45						c.(3379-3381)gCc>gAc		KIAA1432							129.0	146.0	140.0					9																	5769212		2203	4300	6503	SO:0001583	missense	57589					integral to membrane		g.chr9:5769212C>A																												ENST00000414202.2:c.3380C>A	9.37:g.5769212C>A	ENSP00000416696:p.Ala1127Asp					KIAA1432_ENST00000418622.3_Missense_Mutation_p.A1048D|KIAA1432_ENST00000251879.6_Missense_Mutation_p.A1127D|KIAA1432_ENST00000381532.2_Missense_Mutation_p.A1048D|KIAA1432_ENST00000449720.2_Missense_Mutation_p.A1011D	p.A1127D	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	22	3571	+		Acute lymphoblastic leukemia(23;0.154)	1127						Missense_Mutation	SNP	ENST00000414202.2	37	c.3380C>A	CCDS34982.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.08|10.08	1.253355|1.253355	0.22965|0.22965	.|.	.|.	ENSG00000107036|ENSG00000107036	ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720|ENST00000545641	.|.	.|.	.|.	5.82|5.82	3.75|3.75	0.43078|0.43078	.|.	0.307026|.	0.34580|.	N|.	0.003845|.	T|T	0.46092|0.46092	0.1375|0.1375	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	P;P;P|.	0.40875|.	0.612;0.612;0.731|.	B;B;B|.	0.37091|.	0.143;0.188;0.241|.	T|T	0.32481|0.32481	-0.9905|-0.9905	9|5	0.37606|.	T|.	0.19|.	-7.4548|-7.4548	7.3438|7.3438	0.26652|0.26652	0.0:0.6595:0.0:0.3405|0.0:0.6595:0.0:0.3405	.|.	1011;1127;1127|.	B7ZM67;Q4ADV7;G5E932|.	.;RIC1_HUMAN;.|.	D|R	1127;1127;1048;1048;1011|1018	.|.	ENSP00000251879:A1127D|.	A|S	+|+	2|3	0|2	KIAA1432|KIAA1432	5759212|5759212	0.973000|0.973000	0.33851|0.33851	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	1.190000|1.190000	0.32126|0.32126	1.471000|1.471000	0.48121|0.48121	0.655000|0.655000	0.94253|0.94253	GCC|AGC		0.438	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			29	184	1	0	4.74835e-14	1	5.07745e-14	29	184				
CNTN4	152330	broad.mit.edu	37	3	3078931	3078931	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr3:3078931G>C	ENST00000397461.1	+	17	2395	c.2011G>C	c.(2011-2013)Gaa>Caa	p.E671Q	CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000397459.2_Missense_Mutation_p.E343Q|CNTN4_ENST00000448906.2_Missense_Mutation_p.E343Q|CNTN4_ENST00000358480.3_Missense_Mutation_p.E452Q|CNTN4_ENST00000418658.1_Missense_Mutation_p.E671Q|CNTN4_ENST00000427331.1_Missense_Mutation_p.E671Q	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	671	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.E343Q(1)|p.E671Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GGTTGAATATGAATTCCGCAC	0.522																																						ENST00000397461.1																			2	Substitution - Missense(2)	p.E343Q(1)|p.E671Q(1)	breast(2)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(2011-2013)Gaa>Caa		contactin 4							182.0	185.0	184.0					3																	3078931		2203	4300	6503	SO:0001583	missense	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:3078931G>C	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.2011G>C	3.37:g.3078931G>C	ENSP00000380602:p.Glu671Gln					CNTN4_ENST00000427331.1_Missense_Mutation_p.E671Q|CNTN4_ENST00000358480.3_Missense_Mutation_p.E452Q|CNTN4_ENST00000418658.1_Missense_Mutation_p.E671Q|CNTN4_ENST00000397459.2_Missense_Mutation_p.E343Q|CNTN4_ENST00000448906.2_Missense_Mutation_p.E343Q	p.E671Q	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	17	2395	+		Ovarian(110;0.156)	671			Fibronectin type-III 1.		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	c.2011G>C	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	G	31	5.066335	0.93898	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.58358	0.34;0.34;0.34;0.34;0.34;0.34	5.48	5.48	0.80851	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.69593	0.3128	L	0.53780	1.695	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.991;0.991;0.998	T	0.66744	-0.5846	10	0.39692	T	0.17	.	19.387	0.94560	0.0:0.0:1.0:0.0	.	670;671;671	Q8IWV2-3;B3KTK4;Q8IWV2	.;.;CNTN4_HUMAN	Q	671;671;671;452;343;343	ENSP00000396010:E671Q;ENSP00000380602:E671Q;ENSP00000413642:E671Q;ENSP00000351267:E452Q;ENSP00000380600:E343Q;ENSP00000392077:E343Q	ENSP00000351267:E452Q	E	+	1	0	CNTN4	3053931	1.000000	0.71417	0.986000	0.45419	0.816000	0.46133	9.640000	0.98453	2.572000	0.86782	0.655000	0.94253	GAA		0.522	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			9	286	0	0	0	1	0	9	286				
STAG3	10734	broad.mit.edu	37	7	99811425	99811425	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr7:99811425T>C	ENST00000426455.1	+	33	4072	c.3665T>C	c.(3664-3666)aTt>aCt	p.I1222T	STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000394018.2_Missense_Mutation_p.I1164T|GATS_ENST00000436886.2_Intron|GATS_ENST00000543273.1_RNA|STAG3_ENST00000317296.5_Missense_Mutation_p.I1222T	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	1222					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAGCTGGATATTGAGGTGAGT	0.517																																						ENST00000426455.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66						c.(3664-3666)aTt>aCt		stromal antigen 3							119.0	112.0	114.0					7																	99811425		2203	4300	6503	SO:0001583	missense	10734				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	g.chr7:99811425T>C	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.3665T>C	7.37:g.99811425T>C	ENSP00000400359:p.Ile1222Thr					STAG3_ENST00000394018.2_Missense_Mutation_p.I1164T|STAG3_ENST00000317296.5_Missense_Mutation_p.I1222T|GATS_ENST00000543273.1_RNA|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000436886.2_Intron	p.I1222T			Q9UJ98	STAG3_HUMAN			33	4072	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		1222					A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	ENST00000426455.1	37	c.3665T>C	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	t	5.280	0.237130	0.10023	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000339784;ENST00000379577;ENST00000317296;ENST00000412190	T;T;T	0.24538	1.85;1.85;1.85	5.0	2.47	0.30058	.	1.262490	0.05884	N	0.627042	T	0.17534	0.0421	N	0.22421	0.69	0.09310	N	0.999998	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.23868	-1.0176	10	0.51188	T	0.08	0.0151	4.3217	0.11020	0.0:0.1074:0.2024:0.6902	.	1164;1223;1222	B4DZ10;D6W5U7;Q9UJ98	.;.;STAG3_HUMAN	T	1222;1164;885;243;1222;181	ENSP00000400359:I1222T;ENSP00000377586:I1164T;ENSP00000319318:I1222T	ENSP00000319318:I1222T	I	+	2	0	STAG3	99649361	0.004000	0.15560	0.057000	0.19452	0.078000	0.17371	0.648000	0.24828	1.020000	0.39573	0.533000	0.62120	ATT		0.517	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		44	149	0	0	0	1	0	44	149				
PHLDB3	653583	broad.mit.edu	37	19	43999703	43999703	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr19:43999703C>T	ENST00000292140.5	-	7	1255	c.895G>A	c.(895-897)Gcc>Acc	p.A299T		NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	299							enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				CGGCTCTCGGCTGCCATCTGC	0.642																																						ENST00000292140.5																			0				breast(1)|central_nervous_system(1)|lung(5)	7						c.(895-897)Gcc>Acc		pleckstrin homology-like domain, family B, member 3							29.0	40.0	36.0					19																	43999703		1997	4166	6163	SO:0001583	missense	653583							g.chr19:43999703C>T		CCDS12621.2	19q13.31	2013-01-10			ENSG00000176531	ENSG00000176531		"""Pleckstrin homology (PH) domain containing"""	30499	protein-coding gene	gene with protein product							Standard	NM_198850		Approved	FLJ40193	uc002own.4	Q6NSJ2	OTTHUMG00000150693	ENST00000292140.5:c.895G>A	19.37:g.43999703C>T	ENSP00000292140:p.Ala299Thr						p.A299T	NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN			7	1255	-		Prostate(69;0.0153)	299					Q8N7Z4	Missense_Mutation	SNP	ENST00000292140.5	37	c.895G>A	CCDS12621.2	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269417	0.40095	.	.	ENSG00000176531	ENST00000292140	T	0.46819	0.86	4.66	3.63	0.41609	.	.	.	.	.	T	0.36936	0.0985	L	0.27053	0.805	0.09310	N	1	B;B	0.29531	0.247;0.2	B;B	0.35931	0.214;0.042	T	0.29366	-1.0014	9	0.35671	T	0.21	.	9.047	0.36352	0.0:0.8959:0.0:0.1041	.	3;299	B2RXH3;Q6NSJ2	.;PHLB3_HUMAN	T	299	ENSP00000292140:A299T	ENSP00000292140:A299T	A	-	1	0	PHLDB3	48691543	0.266000	0.24112	0.009000	0.14445	0.510000	0.34073	2.210000	0.42816	1.095000	0.41419	-0.350000	0.07774	GCC		0.642	PHLDB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319643.2			10	12	0	0	0	1	0	10	12				
CRX	1406	broad.mit.edu	37	19	48342788	48342788	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr19:48342788C>T	ENST00000221996.7	+	4	670	c.464C>T	c.(463-465)aCg>aTg	p.T155M	CRX_ENST00000539067.1_Missense_Mutation_p.T155M|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	155					circadian rhythm (GO:0007623)|organ morphogenesis (GO:0009887)|positive regulation of photoreceptor cell differentiation (GO:0046534)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|leucine zipper domain binding (GO:0043522)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		TCCCCAACCACGGCAGTGGCC	0.667																																					Pancreas(57;461 1196 22201 40716 47188)	ENST00000221996.7																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23						c.(463-465)aCg>aTg		cone-rod homeobox							36.0	39.0	38.0					19																	48342788		2201	4295	6496	SO:0001583	missense	1406				organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:48342788C>T	AF024711	CCDS12706.1	19q13.3	2013-01-08				ENSG00000105392		"""Homeoboxes / PRD class"""	2383	protein-coding gene	gene with protein product	"""orthodenticle homeobox 3"""	602225		CORD2		9390563, 9537410	Standard	NM_000554		Approved	CRD, LCA7, OTX3	uc002phq.4	O43186		ENST00000221996.7:c.464C>T	19.37:g.48342788C>T	ENSP00000221996:p.Thr155Met					CRX_ENST00000539067.1_Missense_Mutation_p.T155M|TPRX2P_ENST00000535362.1_Intron	p.T155M	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)	4	670	+		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)	155					Q0QD45	Missense_Mutation	SNP	ENST00000221996.7	37	c.464C>T	CCDS12706.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.489362	0.26686	.	.	ENSG00000105392	ENST00000221996;ENST00000539067	D;D	0.90324	-2.65;-2.65	3.93	2.88	0.33553	.	0.414424	0.25717	N	0.028766	D	0.83912	0.5357	L	0.47190	1.495	0.27928	N	0.938007	P	0.37708	0.606	B	0.25614	0.062	T	0.78043	-0.2358	10	0.66056	D	0.02	-0.4251	11.2761	0.49168	0.0:0.8136:0.1864:0.0	.	155	O43186	CRX_HUMAN	M	155	ENSP00000221996:T155M;ENSP00000445565:T155M	ENSP00000221996:T155M	T	+	2	0	CRX	53034600	0.750000	0.28316	0.002000	0.10522	0.641000	0.38312	5.283000	0.65621	0.850000	0.35239	0.467000	0.42956	ACG		0.667	CRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409812.4	NM_000554		8	106	0	0	0	1	0	8	106				
MYB	4602	broad.mit.edu	37	6	135522782	135522782	+	Silent	SNP	A	A	G			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr6:135522782A>G	ENST00000367814.4	+	13	1779	c.1593A>G	c.(1591-1593)gaA>gaG	p.E531E	MYB_ENST00000528774.1_Silent_p.E649E|MYB_ENST00000341911.5_Silent_p.E652E|MYB_ENST00000534044.1_Intron|MYB_ENST00000533624.1_Silent_p.E496E|MYB_ENST00000527615.1_Silent_p.E531E|MYB_ENST00000525369.1_Silent_p.E446E|MYB_ENST00000534121.1_Silent_p.E636E|MYB_ENST00000316528.8_Silent_p.E531E|MYB_ENST00000442647.2_Silent_p.E528E|MYB_ENST00000531845.1_3'UTR	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	531					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		TTTAGGTGGAATCTCCAACTG	0.438			T	NFIB	adenoid cystic carcinoma																																	ENST00000341911.5				Dom	yes		6	6q22-23	4602	T	v-myb myeloblastosis viral oncogene homolog			E	NFIB		adenoid cystic carcinoma		0				breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(1954-1956)gaA>gaG		v-myb avian myeloblastosis viral oncogene homolog							79.0	65.0	70.0					6																	135522782		2203	4300	6503	SO:0001819	synonymous_variant	4602				blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding	g.chr6:135522782A>G		CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.1593A>G	6.37:g.135522782A>G						MYB_ENST00000527615.1_Silent_p.E531E|MYB_ENST00000316528.8_Silent_p.E531E|MYB_ENST00000533624.1_Silent_p.E496E|MYB_ENST00000442647.2_Silent_p.E528E|MYB_ENST00000528774.1_Silent_p.E649E|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000367814.4_Silent_p.E531E|MYB_ENST00000525369.1_Silent_p.E446E|MYB_ENST00000534044.1_Intron|MYB_ENST00000534121.1_Silent_p.E636E	p.E652E	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)	14	2155	+	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)	538					E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Silent	SNP	ENST00000367814.4	37	c.1956A>G	CCDS5174.1																																																																																				0.438	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042347.4			3	38	0	0	0	1	0	3	38				
FBN1	2200	broad.mit.edu	37	15	48786433	48786433	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr15:48786433C>T	ENST00000316623.5	-	23	3151	c.2696G>A	c.(2695-2697)gGg>gAg	p.G899E		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	899	TB 4.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TCTTGAGTACCCTTTACCACA	0.323																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(2695-2697)gGg>gAg		fibrillin 1							118.0	117.0	118.0					15																	48786433		2197	4295	6492	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48786433C>T	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.2696G>A	15.37:g.48786433C>T	ENSP00000325527:p.Gly899Glu						p.G899E	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	23	3151	-		all_lung(180;0.00279)	899			TB 4.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.2696G>A	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	31	5.101222	0.94245	.	.	ENSG00000166147	ENST00000316623	D	0.88741	-2.42	5.78	5.78	0.91487	Matrix fibril-associated (2);	0.100019	0.64402	D	0.000002	D	0.95984	0.8692	M	0.91510	3.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96087	0.9058	10	0.87932	D	0	.	19.9618	0.97254	0.0:1.0:0.0:0.0	.	899	P35555	FBN1_HUMAN	E	899	ENSP00000325527:G899E	ENSP00000325527:G899E	G	-	2	0	FBN1	46573725	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	7.088000	0.76901	2.894000	0.99253	0.655000	0.94253	GGG		0.323	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			20	62	0	0	0	1	0	20	62				
FHDC1	85462	broad.mit.edu	37	4	153896041	153896041	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr4:153896041C>T	ENST00000511601.1	+	12	1786	c.1598C>T	c.(1597-1599)cCc>cTc	p.P533L	FHDC1_ENST00000260008.3_Missense_Mutation_p.P533L			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	533									ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					TCCTACCGGCCCCCGAACACC	0.667																																						ENST00000511601.1																		ARFIP1/FHDC1(2)	0				NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1597-1599)cCc>cTc		FH2 domain containing 1							9.0	12.0	11.0					4																	153896041		2185	4266	6451	SO:0001583	missense	85462				actin cytoskeleton organization		actin binding	g.chr4:153896041C>T	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.1598C>T	4.37:g.153896041C>T	ENSP00000427567:p.Pro533Leu					FHDC1_ENST00000260008.3_Missense_Mutation_p.P533L	p.P533L			Q9C0D6	FHDC1_HUMAN			12	1786	+	all_hematologic(180;0.093)		533						Missense_Mutation	SNP	ENST00000511601.1	37	c.1598C>T	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.753492	0.31046	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.34072	1.38;1.38	5.49	4.64	0.57946	.	0.563884	0.18183	N	0.149072	T	0.38081	0.1027	M	0.72118	2.19	0.44181	D	0.996996	P	0.40144	0.704	B	0.38616	0.277	T	0.33369	-0.9871	10	0.72032	D	0.01	.	9.2147	0.37339	0.283:0.5985:0.1185:0.0	.	533	Q9C0D6	FHDC1_HUMAN	L	533	ENSP00000427567:P533L;ENSP00000260008:P533L	ENSP00000260008:P533L	P	+	2	0	FHDC1	154115491	1.000000	0.71417	1.000000	0.80357	0.097000	0.18754	3.064000	0.49986	1.277000	0.44412	0.563000	0.77884	CCC		0.667	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		9	16	0	0	0	1	0	9	16				
LPCAT3	10162	broad.mit.edu	37	12	7092611	7092611	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr12:7092611T>C	ENST00000261407.4	-	2	326	c.241A>G	c.(241-243)Att>Gtt	p.I81V	LPCAT3_ENST00000535021.1_5'Flank	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	81					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						AAATAAGCAATTGAGAGGCCT	0.418																																						ENST00000261407.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						c.(241-243)Att>Gtt		lysophosphatidylcholine acyltransferase 3							173.0	179.0	177.0					12																	7092611		2203	4300	6503	SO:0001583	missense	10162				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity	g.chr12:7092611T>C	U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684			30244	protein-coding gene	gene with protein product		611950	"""O-acyltransferase (membrane bound) domain containing 5"", ""membrane bound O-acyltransferase domain containing 5"""	OACT5, MBOAT5		8723724, 9074930, 18195019	Standard	NM_005768		Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970	ENST00000261407.4:c.241A>G	12.37:g.7092611T>C	ENSP00000261407:p.Ile81Val					U47924.19_ENST00000564245.1_RNA	p.I81V	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN			2	326	-			81					B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	Missense_Mutation	SNP	ENST00000261407.4	37	c.241A>G	CCDS8572.1	.	.	.	.	.	.	.	.	.	.	T	13.92	2.380852	0.42207	.	.	ENSG00000111684	ENST00000261407	T	0.72942	-0.7	5.5	5.5	0.81552	.	0.062767	0.64402	D	0.000003	T	0.67933	0.2946	M	0.75777	2.31	0.46542	D	0.999094	B	0.21071	0.051	B	0.14023	0.01	T	0.64188	-0.6466	10	0.28530	T	0.3	-13.4384	11.0421	0.47838	0.0:0.0725:0.0:0.9275	.	81	Q6P1A2	MBOA5_HUMAN	V	81	ENSP00000261407:I81V	ENSP00000261407:I81V	I	-	1	0	LPCAT3	6962872	1.000000	0.71417	0.683000	0.30040	0.995000	0.86356	4.501000	0.60393	2.216000	0.71823	0.533000	0.62120	ATT		0.418	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401812.1	NM_005768		103	146	0	0	0	1	0	103	146				
EIF1AX	1964	broad.mit.edu	37	X	20156719	20156719	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chrX:20156719C>T	ENST00000379607.5	-	2	241	c.38G>A	c.(37-39)cGc>cAc	p.R13H	EIF1AX-AS1_ENST00000424026.1_RNA|snoU2_19_ENST00000364722.1_RNA|snoU2-30_ENST00000365012.1_RNA|EIF1AX_ENST00000379593.1_Intron	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	13					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						CTTACCCCTGCGTCTGTTTTT	0.303																																						ENST00000379607.5																			0				endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						c.(37-39)cGc>cAc		eukaryotic translation initiation factor 1A, X-linked							152.0	142.0	146.0					X																	20156719		2203	4300	6503	SO:0001583	missense	1964					cytosol	translation initiation factor activity	g.chrX:20156719C>T	L18960	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674			3250	protein-coding gene	gene with protein product		300186	"""eukaryotic translation initiation factor 1A, X chromosome"""	EIF4C, EIF1A		8106356, 9381176	Standard	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	P47813	OTTHUMG00000022704	ENST00000379607.5:c.38G>A	X.37:g.20156719C>T	ENSP00000368927:p.Arg13His					EIF1AX_ENST00000379593.1_Intron	p.R13H	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN			2	241	-			13					B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Missense_Mutation	SNP	ENST00000379607.5	37	c.38G>A	CCDS14196.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.269863	0.59540	.	.	ENSG00000173674	ENST00000379607	T	0.48836	0.8	4.94	4.94	0.65067	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.72645	0.3486	H	0.94925	3.6	0.80722	D	1	P	0.51933	0.949	P	0.54210	0.745	T	0.82552	-0.0400	9	0.72032	D	0.01	-11.4715	17.661	0.88193	0.0:1.0:0.0:0.0	.	13	P47813	IF1AX_HUMAN	H	13	ENSP00000368927:R13H	ENSP00000368927:R13H	R	-	2	0	EIF1AX	20066640	1.000000	0.71417	0.837000	0.33122	0.445000	0.32107	7.237000	0.78164	2.187000	0.69744	0.600000	0.82982	CGC		0.303	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1			3	65	0	0	0	1	0	3	65				
UGT1A5	54579	broad.mit.edu	37	2	234622136	234622136	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr2:234622136A>T	ENST00000373414.3	+	1	499	c.499A>T	c.(499-501)Att>Ttt	p.I167F	UGT1A1_ENST00000373450.4_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000608381.1_Missense_Mutation_p.I167F|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A7_ENST00000373426.3_Intron			P35504	UD15_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A5	167						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		GTACCTGTCGATTCCTGCTGT	0.478																																						ENST00000373414.3																			0				cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22						c.(499-501)Att>Ttt									197.0	190.0	193.0					2																	234622136		2203	4300	6503	SO:0001583	missense	0							g.chr2:234622136A>T	M84129	CCDS33404.1	2q37	2010-03-05	2005-07-20		ENSG00000240224	ENSG00000240224		"""UDP glucuronosyltransferases"""	12537	other	complex locus constituent		606430	"""UDP glycosyltransferase 1 family, polypeptide A5"""			9295054, 1339448	Standard	NM_019078		Approved	UGT1E		P35504	OTTHUMG00000059120	ENST00000373414.3:c.499A>T	2.37:g.234622136A>T	ENSP00000362513:p.Ile167Phe					UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron	p.I167F	NM_019078.1	NP_061951.1				Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)	1	499	+		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)						B8K294	Missense_Mutation	SNP	ENST00000373414.3	37	c.499A>T	CCDS33404.1	.	.	.	.	.	.	.	.	.	.	A	18.63	3.664911	0.67700	.	.	ENSG00000240224	ENST00000373414	T	0.66099	-0.19	4.88	-7.41	0.01392	.	0.477238	0.21802	N	0.068910	T	0.67785	0.2930	M	0.90814	3.15	0.23501	N	0.997543	D;D	0.53151	0.958;0.958	P;P	0.52598	0.703;0.703	T	0.65195	-0.6227	10	0.87932	D	0	.	7.6735	0.28471	0.3427:0.3475:0.3099:0.0	.	167;167	Q5DSZ9;P35504	.;UD15_HUMAN	F	167	ENSP00000362513:I167F	ENSP00000362513:I167F	I	+	1	0	UGT1A5	234286875	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-5.009000	0.00160	-1.559000	0.01688	0.459000	0.35465	ATT		0.478	UGT1A5-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130985.1	NM_019078		8	226	0	0	0	1	0	8	226				
PRAMEF4	400735	broad.mit.edu	37	1	12943051	12943051	+	Silent	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:12943051C>T	ENST00000235349.5	-	2	235	c.165G>A	c.(163-165)aaG>aaA	p.K55K		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	55					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCACCATCAGCTTCAGGGCCT	0.602																																						ENST00000235349.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24						c.(163-165)aaG>aaA		PRAME family member 4							48.0	56.0	53.0					1																	12943051		2186	4266	6452	SO:0001819	synonymous_variant	400735							g.chr1:12943051C>T		CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"""-"""	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.165G>A	1.37:g.12943051C>T							p.K55K	NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	235	-	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	55					Q5LJB5	Silent	SNP	ENST00000235349.5	37	c.165G>A	CCDS30592.1																																																																																				0.602	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005518.1	NM_001009611		5	139	0	0	0	1	0	5	139				
CTSF	8722	broad.mit.edu	37	11	66328794	66328794	+	IGR	SNP	G	G	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr11:66328794G>C	ENST00000310325.5	-	0	2035				CTD-3074O7.2_ENST00000504911.1_lincRNA|ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TGCGGCCCAGGCCAATGCCAT	0.652																																						ENST00000513398.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10								actinin, alpha 3 (gene/pseudogene)							23.0	28.0	27.0					11																	66328794		2084	4246	6330	SO:0001628	intergenic_variant	89				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle	g.chr11:66328794G>C	AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"""Cathepsins"""	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090		11.37:g.66328794G>C						ACTN3_ENST00000502692.1_RNA		NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN			0	2054	+								B2R964|O95240|Q9NSU4|Q9UKQ5	RNA	SNP	ENST00000310325.5	37		CCDS8144.1																																																																																				0.652	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793		9	17	0	0	0	1	0	9	17				
NBPF1	55672	broad.mit.edu	37	1	16893743	16893743	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:16893743A>G	ENST00000430580.2	-	25	3657	c.2770T>C	c.(2770-2772)Tgc>Cgc	p.C924R	NBPF1_ENST00000432949.1_3'UTR|NBPF1_ENST00000420031.2_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	924	NBPF 5. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TAGGGCTGGCATGAGTCAGTC	0.478																																						ENST00000430580.2																			0											c.(2770-2772)Tgc>Cgc		neuroblastoma breakpoint family, member 1							910.0	789.0	830.0					1																	16893743		2203	4298	6501	SO:0001583	missense	55672					cytoplasm		g.chr1:16893743A>G	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2770T>C	1.37:g.16893743A>G	ENSP00000474456:p.Cys924Arg					NBPF1_ENST00000432949.1_3'UTR|NBPF1_ENST00000420031.2_3'UTR	p.C924R	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	25	3657	-			924			NBPF 5.		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.2770T>C																																																																																					0.478	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		64	1066	0	0	0	1	0	64	1066				
ZDHHC23	254887	broad.mit.edu	37	3	113677375	113677375	+	Silent	SNP	C	C	T	rs567969212		TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr3:113677375C>T	ENST00000330212.3	+	5	1505	c.1206C>T	c.(1204-1206)atC>atT	p.I402I	ZDHHC23_ENST00000488129.1_3'UTR|ZDHHC23_ENST00000498275.1_Silent_p.I396I	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	402					protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						GCGGGCTCATCGTGGACACAG	0.602																																						ENST00000330212.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						c.(1204-1206)atC>atT		zinc finger, DHHC-type containing 23							35.0	38.0	37.0					3																	113677375		2203	4300	6503	SO:0001819	synonymous_variant	254887					integral to membrane	acyltransferase activity|zinc ion binding	g.chr3:113677375C>T	AK127025	CCDS33827.1	3q13.31	2008-05-02			ENSG00000184307	ENSG00000184307		"""Zinc fingers, DHHC-type"""	28654	protein-coding gene	gene with protein product						12477932	Standard	NM_173570		Approved	MGC42530	uc003eau.3	Q8IYP9	OTTHUMG00000159335	ENST00000330212.3:c.1206C>T	3.37:g.113677375C>T						ZDHHC23_ENST00000488129.1_3'UTR|ZDHHC23_ENST00000498275.1_Silent_p.I396I	p.I402I	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN			5	1505	+			402					D3DN76	Silent	SNP	ENST00000330212.3	37	c.1206C>T	CCDS33827.1																																																																																				0.602	ZDHHC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354702.1	NM_173570		17	34	0	0	0	1	0	17	34				
TLDC1	57707	broad.mit.edu	37	16	84516258	84516258	+	Silent	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr16:84516258C>T	ENST00000343629.6	-	6	1199	c.1017G>A	c.(1015-1017)acG>acA	p.T339T	TLDC1_ENST00000535580.1_Silent_p.T312T	NM_020947.3	NP_065998.3	Q6P9B6	TLDC1_HUMAN	TBC/LysM-associated domain containing 1	339	TLD.					lysosomal membrane (GO:0005765)											CGTTGTAGCCCGTGTGTGTGT	0.552																																						ENST00000343629.6																			0											c.(1015-1017)acG>acA		TBC/LysM-associated domain containing 1							183.0	140.0	154.0					16																	84516258		2200	4300	6500	SO:0001819	synonymous_variant	57707							g.chr16:84516258C>T	AB046829	CCDS32498.1	16q24.1	2013-03-14	2013-03-14	2013-03-14	ENSG00000140950	ENSG00000140950			29325	protein-coding gene	gene with protein product	"""TLD domain containing 1"""		"""KIAA1609"""	KIAA1609		10997877	Standard	NM_020947		Approved		uc002fib.3	Q6P9B6	OTTHUMG00000176739	ENST00000343629.6:c.1017G>A	16.37:g.84516258C>T						TLDC1_ENST00000535580.1_Silent_p.T312T	p.T339T	NM_020947.3	NP_065998.3					6	1199	-								Q8IZ64|Q9HCG3|Q9NTE8	Silent	SNP	ENST00000343629.6	37	c.1017G>A	CCDS32498.1																																																																																				0.552	TLDC1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433421.1	NM_020947		26	49	0	0	0	1	0	26	49				
TEX14	56155	broad.mit.edu	37	17	56700218	56700218	+	Missense_Mutation	SNP	C	C	T	rs140312980		TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr17:56700218C>T	ENST00000240361.8	-	4	492	c.407G>A	c.(406-408)cGt>cAt	p.R136H	TEX14_ENST00000389934.3_Missense_Mutation_p.R136H|TEX14_ENST00000349033.5_Missense_Mutation_p.R136H			Q8IWB6	TEX14_HUMAN	testis expressed 14	136					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGGGTGCTACGCTCCTTTCC	0.567																																						ENST00000389934.3																			0				breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81						c.(406-408)cGt>cAt		testis expressed 14		C	HIS/ARG,HIS/ARG,HIS/ARG	4,4402	8.1+/-20.4	0,4,2199	122.0	91.0	102.0		407,407,407	3.1	1.0	17	dbSNP_134	102	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	TEX14	NM_001201457.1,NM_031272.4,NM_198393.3	29,29,29	0,5,6498	TT,TC,CC		0.0116,0.0908,0.0384	benign,benign,benign	136/1498,136/1452,136/1492	56700218	5,13001	2203	4300	6503	SO:0001583	missense	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56700218C>T	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.407G>A	17.37:g.56700218C>T	ENSP00000240361:p.Arg136His					TEX14_ENST00000240361.8_Missense_Mutation_p.R136H|TEX14_ENST00000349033.5_Missense_Mutation_p.R136H	p.R136H	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN			4	524	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		136					A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	c.407G>A	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.440011	0.43326	9.08E-4	1.16E-4	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.80393	-1.37;-1.36;-1.31	5.12	3.1	0.35709	Ankyrin repeat-containing domain (3);	0.419014	0.22276	N	0.062197	T	0.60971	0.2310	N	0.11560	0.145	0.28300	N	0.923175	B;B;B	0.23377	0.05;0.084;0.084	B;B;B	0.18871	0.01;0.023;0.023	T	0.55988	-0.8053	10	0.46703	T	0.11	-2.9239	7.8864	0.29653	0.0:0.7447:0.0:0.2553	.	136;136;136	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	H	136	ENSP00000240361:R136H;ENSP00000374584:R136H;ENSP00000268910:R136H	ENSP00000240361:R136H	R	-	2	0	TEX14	54055217	0.000000	0.05858	0.995000	0.50966	0.974000	0.67602	0.134000	0.15932	1.283000	0.44513	0.655000	0.94253	CGT		0.567	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			6	132	0	0	0	1	0	6	132				
EPT1	85465	broad.mit.edu	37	2	26587719	26587719	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr2:26587719C>T	ENST00000260585.7	+	3	265	c.146C>T	c.(145-147)gCg>gTg	p.A49V		NM_033505.2	NP_277040.1	Q9C0D9	EPT1_HUMAN	ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific)	49					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)										ACTTGGCTGGCGCCCAATCTG	0.348																																						ENST00000260585.7																			0											c.(145-147)gCg>gTg		ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific)							96.0	85.0	88.0					2																	26587719		1801	4063	5864	SO:0001583	missense	85465				phospholipid biosynthetic process	integral to membrane	ethanolaminephosphotransferase activity|metal ion binding	g.chr2:26587719C>T		CCDS46240.1	2p23.3	2012-03-01			ENSG00000138018	ENSG00000138018	2.7.8.1		29361	protein-coding gene	gene with protein product	"""selenoprotein I"""	607915				11214970, 17132865	Standard	NM_033505		Approved	KIAA1724, SELI, SEPI	uc021veu.1	Q9C0D9	OTTHUMG00000151931	ENST00000260585.7:c.146C>T	2.37:g.26587719C>T	ENSP00000260585:p.Ala49Val						p.A49V	NM_033505.2	NP_277040.1	Q9C0D9	EPT1_HUMAN			3	265	+			49					Q63ZE3	Missense_Mutation	SNP	ENST00000260585.7	37	c.146C>T	CCDS46240.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877555	0.51801	.	.	ENSG00000138018	ENST00000442141;ENST00000260585;ENST00000447170	T;T	0.40225	1.04;1.04	5.96	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.69548	0.3123	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76217	-0.3040	10	0.66056	D	0.02	-5.4262	15.9558	0.79886	0.0:0.8648:0.1352:0.0	.	49	Q9C0D9	EPT1_HUMAN	V	17;49;49	ENSP00000415280:A17V;ENSP00000260585:A49V	ENSP00000260585:A49V	A	+	2	0	EPT1	26441223	1.000000	0.71417	1.000000	0.80357	0.037000	0.13140	7.074000	0.76791	1.514000	0.48869	-0.176000	0.13171	GCG		0.348	EPT1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000324484.3	NM_033505.2		4	71	0	0	0	1	0	4	71				
OR2Z1	284383	broad.mit.edu	37	19	8841995	8841995	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr19:8841995C>A	ENST00000324060.2	+	1	680	c.605C>A	c.(604-606)tCa>tAa	p.S202*		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	202						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTGTCCACCTCAGGGGTGCTG	0.577											OREG0007662	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=OR2Z1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										ENST00000324060.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(604-606)tCa>tAa		olfactory receptor, family 2, subfamily Z, member 1							133.0	115.0	121.0					19																	8841995		2203	4300	6503	SO:0001587	stop_gained	284383				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:8841995C>A	AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"""GPCR / Class A : Olfactory receptors"""	15391	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily Z, member 2"""	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.605C>A	19.37:g.8841995C>A	ENSP00000316284:p.Ser202*		OREG0007662	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=OR2Z1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	652		p.S202*	NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN			1	680	+			202					B9EH50|Q6IFK0|Q96R25	Nonsense_Mutation	SNP	ENST00000324060.2	37	c.605C>A	CCDS32895.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462287	0.43736	.	.	ENSG00000181733	ENST00000324060	.	.	.	4.67	0.927	0.19437	.	0.869485	0.09907	N	0.740250	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	7.8822	0.29629	0.0:0.6037:0.3066:0.0897	.	.	.	.	X	202	.	ENSP00000316284:S202X	S	+	2	0	OR2Z1	8702995	0.000000	0.05858	0.325000	0.25375	0.235000	0.25334	-0.648000	0.05391	0.502000	0.28037	0.543000	0.68304	TCA		0.577	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459954.1			20	153	1	0	5.49717e-05	1	5.7086e-05	20	153				
CACNA1B	774	broad.mit.edu	37	9	140772650	140772650	+	Missense_Mutation	SNP	A	A	G	rs199980579		TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr9:140772650A>G	ENST00000371372.1	+	1	410	c.265A>G	c.(265-267)Aag>Gag	p.K89E	CACNA1B_ENST00000371355.4_Missense_Mutation_p.K89E|CACNA1B_ENST00000371357.1_Missense_Mutation_p.K89E|CACNA1B_ENST00000277549.5_5'UTR|RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000371363.1_Missense_Mutation_p.K89E|CACNA1B_ENST00000277551.2_Missense_Mutation_p.K89E	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	89					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CAAATACGCGAAGCGCATCAC	0.701																																						ENST00000371372.1																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(265-267)Aag>Gag		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)	A	GLU/LYS	1,3993		0,1,1996	28.0	29.0	29.0		265	3.6	1.0	9		29	11,8341		0,11,4165	yes	missense	CACNA1B	NM_000718.3	56	0,12,6161	GG,GA,AA		0.1317,0.025,0.0972	benign	89/2340	140772650	12,12334	1997	4176	6173	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140772650A>G	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.265A>G	9.37:g.140772650A>G	ENSP00000360423:p.Lys89Glu					CACNA1B_ENST00000277551.2_Missense_Mutation_p.K89E|RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000371357.1_Missense_Mutation_p.K89E|CACNA1B_ENST00000371363.1_Missense_Mutation_p.K89E|CACNA1B_ENST00000371355.4_Missense_Mutation_p.K89E|CACNA1B_ENST00000277549.5_5'UTR	p.K89E	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	1	410	+	all_cancers(76;0.166)		89					B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.265A>G	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.538785	0.85917	2.5E-4	0.001317	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8	3.63	3.63	0.41609	.	0.174473	0.38111	U	0.001803	D	0.85221	0.5647	M	0.86178	2.8	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	D	0.85420	0.1142	10	0.42905	T	0.14	.	11.4831	0.50337	1.0:0.0:0.0:0.0	.	89	B1AQK6	.	E	89	ENSP00000360423:K89E;ENSP00000277551:K89E;ENSP00000360414:K89E;ENSP00000360408:K89E;ENSP00000360406:K89E	ENSP00000277551:K89E	K	+	1	0	CACNA1B	139892471	1.000000	0.71417	0.998000	0.56505	0.904000	0.53231	7.910000	0.87451	1.298000	0.44778	0.248000	0.18094	AAG		0.701	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		4	38	0	0	0	1	0	4	38				
USP24	23358	broad.mit.edu	37	1	55590210	55590210	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:55590210C>A	ENST00000294383.6	-	35	4051	c.4052G>T	c.(4051-4053)aGt>aTt	p.S1351I	USP24_ENST00000407756.1_Missense_Mutation_p.S1191I	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1351					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TGGCTGGCTACTCCCAACAAG	0.433																																						ENST00000294383.6																			0				breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(4051-4053)aGt>aTt		ubiquitin specific peptidase 24							61.0	58.0	59.0					1																	55590210		1943	4138	6081	SO:0001583	missense	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55590210C>A	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.4052G>T	1.37:g.55590210C>A	ENSP00000294383:p.Ser1351Ile					USP24_ENST00000407756.1_Missense_Mutation_p.S1191I	p.S1351I	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN			35	4051	-			1351					Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	c.4052G>T	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	C	18.73	3.685445	0.68157	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.02682	4.24;4.2	4.93	4.93	0.64822	.	0.077362	0.85682	D	0.000000	T	0.04137	0.0115	L	0.38175	1.15	0.80722	D	1	B	0.19583	0.037	B	0.17722	0.019	T	0.48714	-0.9011	10	0.45353	T	0.12	.	18.1407	0.89638	0.0:1.0:0.0:0.0	.	1191	B7WPF4	.	I	1351;1191	ENSP00000294383:S1351I;ENSP00000385700:S1191I	ENSP00000294383:S1351I	S	-	2	0	USP24	55362798	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.410000	0.80065	2.288000	0.76882	0.455000	0.32223	AGT		0.433	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			3	37	1	0	1	1	1	3	37				
CXorf58	254158	broad.mit.edu	37	X	23956785	23956785	+	Silent	SNP	T	T	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chrX:23956785T>C	ENST00000379211.3	+	8	1456	c.907T>C	c.(907-909)Ttg>Ctg	p.L303L		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	303										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						AAAAGTTTATTTGGCTAAAGA	0.338																																						ENST00000379211.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						c.(907-909)Ttg>Ctg		chromosome X open reading frame 58							80.0	81.0	81.0					X																	23956785		2203	4300	6503	SO:0001819	synonymous_variant	254158							g.chrX:23956785T>C	AK058173	CCDS14209.1	Xp22.11	2012-11-28			ENSG00000165182	ENSG00000165182			26356	protein-coding gene	gene with protein product							Standard	NM_152761		Approved	FLJ25444	uc004daz.1	Q96LI9	OTTHUMG00000021258	ENST00000379211.3:c.907T>C	X.37:g.23956785T>C							p.L303L	NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN			8	1456	+			303						Silent	SNP	ENST00000379211.3	37	c.907T>C	CCDS14209.1																																																																																				0.338	CXorf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056071.1	NM_152761		56	16	0	0	0	1	0	56	16				
ABCF1	23	broad.mit.edu	37	6	30558337	30558337	+	Silent	SNP	C	C	G			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr6:30558337C>G	ENST00000326195.8	+	25	2509	c.2397C>G	c.(2395-2397)gcC>gcG	p.A799A	ABCF1_ENST00000376545.3_Silent_p.A761A|ABCF1_ENST00000396515.4_Silent_p.A192A	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	799	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						GCCATGATGCCCGACTCATCA	0.488																																						ENST00000326195.8																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						c.(2395-2397)gcC>gcG		ATP-binding cassette, sub-family F (GCN20), member 1							430.0	466.0	453.0					6																	30558337		1510	2709	4219	SO:0001819	synonymous_variant	23				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding	g.chr6:30558337C>G	AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"""ATP binding cassette transporters / subfamily F"""	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.2397C>G	6.37:g.30558337C>G						ABCF1_ENST00000376545.3_Silent_p.A761A|ABCF1_ENST00000396515.4_Silent_p.A192A	p.A799A	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN			25	2509	+			799			ABC transporter 2.		A2BF75|O14897|Q69YP6	Silent	SNP	ENST00000326195.8	37	c.2397C>G	CCDS34380.1																																																																																				0.488	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3			14	492	0	0	0	1	0	14	492				
TBC1D31	93594	broad.mit.edu	37	8	124117596	124117596	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr8:124117596G>T	ENST00000287380.1	+	8	1191	c.1101G>T	c.(1099-1101)aaG>aaT	p.K367N	TBC1D31_ENST00000309336.3_Missense_Mutation_p.K367N|TBC1D31_ENST00000522420.1_Missense_Mutation_p.K262N|TBC1D31_ENST00000518805.1_5'UTR|TBC1D31_ENST00000521676.1_Missense_Mutation_p.K262N|TBC1D31_ENST00000327098.5_Missense_Mutation_p.K367N|TBC1D31_ENST00000378080.2_Missense_Mutation_p.K262N	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	367						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										GTGATCTTAAGATGAAAGTAA	0.343																																						ENST00000287380.1																			0											c.(1099-1101)aaG>aaT		TBC1 domain family, member 31							53.0	52.0	53.0					8																	124117596		2203	4300	6503	SO:0001583	missense	93594							g.chr8:124117596G>T	AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"""WD repeat domain containing"""	30888	protein-coding gene	gene with protein product			"""WD repeat domain 67"""	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.1101G>T	8.37:g.124117596G>T	ENSP00000287380:p.Lys367Asn					TBC1D31_ENST00000521676.1_Missense_Mutation_p.K262N|TBC1D31_ENST00000378080.2_Missense_Mutation_p.K262N|TBC1D31_ENST00000309336.3_Missense_Mutation_p.K367N|TBC1D31_ENST00000522420.1_Missense_Mutation_p.K262N|TBC1D31_ENST00000327098.5_Missense_Mutation_p.K367N|TBC1D31_ENST00000518805.1_5'UTR	p.K367N	NM_145647.3	NP_663622.2					8	1191	+								B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Missense_Mutation	SNP	ENST00000287380.1	37	c.1101G>T	CCDS6338.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.283850	0.23392	.	.	ENSG00000156787	ENST00000287380;ENST00000309336;ENST00000519418;ENST00000327098;ENST00000522420;ENST00000521676;ENST00000378080	T;T;T;T;T;T;T	0.80304	-0.37;-0.33;0.76;-0.31;-0.83;-1.12;-1.36	4.66	-0.0147	0.13979	.	0.165679	0.50627	D	0.000101	T	0.79857	0.4518	M	0.71581	2.175	0.09310	N	1	D;D;B	0.57257	0.967;0.979;0.376	P;P;B	0.52554	0.701;0.702;0.164	T	0.70153	-0.4950	10	0.54805	T	0.06	-13.2637	3.9675	0.09437	0.3952:0.0:0.439:0.1658	.	367;262;367	B7ZL19;E7ERK7;Q96DN5	.;.;WDR67_HUMAN	N	367;367;35;367;262;262;262	ENSP00000287380:K367N;ENSP00000308358:K367N;ENSP00000430927:K35N;ENSP00000312701:K367N;ENSP00000429334:K262N;ENSP00000430628:K262N;ENSP00000367320:K262N	ENSP00000287380:K367N	K	+	3	2	WDR67	124186777	0.403000	0.25319	0.004000	0.12327	0.024000	0.10985	0.518000	0.22847	0.047000	0.15862	-0.320000	0.08662	AAG		0.343	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647		10	28	1	0	4.68919e-08	1	4.96502e-08	10	28				
TPTE2P2	644623	broad.mit.edu	37	13	52864028	52864028	+	RNA	SNP	C	C	T	rs200454029	byFrequency	TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr13:52864028C>T	ENST00000451298.1	-	0	141																											TAGAATGATACTCCAAAGGAA	0.313																																						ENST00000451298.1																			0																																																			0							g.chr13:52864028C>T																													13.37:g.52864028C>T						RP11-64P12.8_ENST00000606031.1_RNA								0	141	-									RNA	SNP	ENST00000451298.1	37																																																																																						0.313	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000471093.1			3	39	0	0	0	1	0	3	39				
CETN1	1068	broad.mit.edu	37	18	580857	580857	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr18:580857A>C	ENST00000327228.3	+	1	491	c.449A>C	c.(448-450)gAt>gCt	p.D150A		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	150	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to heat (GO:0034605)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|photoreceptor connecting cilium (GO:0032391)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|calcium ion binding (GO:0005509)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						GACGAAGCTGATCGGGATGGG	0.542																																						ENST00000327228.3																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						c.(448-450)gAt>gCt		centrin, EF-hand protein, 1							90.0	87.0	88.0					18																	580857		2203	4300	6503	SO:0001583	missense	1068				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding	g.chr18:580857A>C	U03270	CCDS11820.1	18p11.32	2013-01-10			ENSG00000177143	ENSG00000177143		"""EF-hand domain containing"""	1866	protein-coding gene	gene with protein product		603187		CETN		8175926	Standard	NM_004066		Approved	CEN1	uc002kko.1	Q12798	OTTHUMG00000131471	ENST00000327228.3:c.449A>C	18.37:g.580857A>C	ENSP00000319052:p.Asp150Ala						p.D150A	NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN			1	491	+			150			EF-hand 4.		B2R536	Missense_Mutation	SNP	ENST00000327228.3	37	c.449A>C	CCDS11820.1	.	.	.	.	.	.	.	.	.	.	A	15.97	2.988632	0.53934	.	.	ENSG00000177143	ENST00000327228	D	0.95918	-3.85	5.2	5.2	0.72013	RNA helicase, ATP-dependent, DEAD-box, conserved site (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.98134	0.9384	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.99035	1.0822	10	0.87932	D	0	.	13.3624	0.60663	1.0:0.0:0.0:0.0	.	150	Q12798	CETN1_HUMAN	A	150	ENSP00000319052:D150A	ENSP00000319052:D150A	D	+	2	0	CETN1	570857	1.000000	0.71417	0.120000	0.21714	0.017000	0.09413	5.127000	0.64727	2.324000	0.78689	0.533000	0.62120	GAT		0.542	CETN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254314.2	NM_004066		17	81	0	0	0	1	0	17	81				
DNAJC7	7266	broad.mit.edu	37	17	40133943	40133943	+	Silent	SNP	G	G	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr17:40133943G>A	ENST00000457167.4	-	12	1550	c.1314C>T	c.(1312-1314)ctC>ctT	p.L438L	DNAJC7_ENST00000316603.7_Silent_p.L382L|DNAJC7_ENST00000426588.3_Silent_p.L382L	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	438	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				chaperone cofactor-dependent protein refolding (GO:0070389)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				TGGGATCAGAGAGGATAGTAA	0.502																																					Colon(63;618 1117 8600 10857 19751)	ENST00000457167.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						c.(1312-1314)ctC>ctT		DnaJ (Hsp40) homolog, subfamily C, member 7							149.0	139.0	142.0					17																	40133943		1952	4126	6078	SO:0001819	synonymous_variant	7266				chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding	g.chr17:40133943G>A	U46571	CCDS45677.1, CCDS45678.1	17q11.2	2013-01-10				ENSG00000168259		"""Heat shock proteins / DNAJ (HSP40)"", ""Tetratricopeptide (TTC) repeat domain containing"""	12392	protein-coding gene	gene with protein product		601964		TTC2		8836031, 11147971	Standard	NR_029431		Approved	TPR2	uc002hyo.3	Q99615		ENST00000457167.4:c.1314C>T	17.37:g.40133943G>A						DNAJC7_ENST00000316603.7_Silent_p.L382L|DNAJC7_ENST00000426588.3_Silent_p.L382L	p.L438L	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN			12	1550	-		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)	438			J.		Q7Z784	Silent	SNP	ENST00000457167.4	37	c.1314C>T	CCDS45677.1																																																																																				0.502	DNAJC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453366.2			31	94	0	0	0	1	0	31	94				
KIAA1328	57536	broad.mit.edu	37	18	34414311	34414311	+	Silent	SNP	C	C	T	rs562943084		TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr18:34414311C>T	ENST00000280020.5	+	2	109	c.87C>T	c.(85-87)taC>taT	p.Y29Y	KIAA1328_ENST00000591619.1_Silent_p.Y25Y|KIAA1328_ENST00000592521.1_Silent_p.Y29Y|KIAA1328_ENST00000435985.2_5'UTR|KIAA1328_ENST00000543923.1_5'UTR	NM_020776.1	NP_065827.1	Q86T90	K1328_HUMAN	KIAA1328	29										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		CAGTAGTATACGTTCCAGGTA	0.338																																						ENST00000591619.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14						c.(73-75)taC>taT		KIAA1328							112.0	101.0	104.0					18																	34414311		1818	4077	5895	SO:0001819	synonymous_variant	57536							g.chr18:34414311C>T	AB037749	CCDS45855.1	18q12.2	2011-12-12			ENSG00000150477	ENSG00000150477			29248	protein-coding gene	gene with protein product						10718198	Standard	XM_005258317		Approved		uc002kzz.3	Q86T90		ENST00000280020.5:c.87C>T	18.37:g.34414311C>T						KIAA1328_ENST00000435985.2_5'UTR|KIAA1328_ENST00000280020.5_Silent_p.Y29Y|KIAA1328_ENST00000543923.1_5'UTR|KIAA1328_ENST00000592521.1_Silent_p.Y29Y	p.Y25Y			Q86T90	K1328_HUMAN		COAD - Colon adenocarcinoma(74;0.195)	2	861	+			29					Q05DL0|Q49AG6|Q9P2L8	Silent	SNP	ENST00000280020.5	37	c.75C>T	CCDS45855.1																																																																																				0.338	KIAA1328-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440455.1	NM_020776		9	8	0	0	0	1	0	9	8				
MFN2	9927	broad.mit.edu	37	1	12071583	12071583	+	Silent	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:12071583C>T	ENST00000235329.5	+	19	2557	c.2235C>T	c.(2233-2235)ctC>ctT	p.L745L	MFN2_ENST00000444836.1_Silent_p.L745L	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	745					apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		ACAGTGAGCTCAACATGTTCA	0.537																																						ENST00000235329.5																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20						c.(2233-2235)ctC>ctT		mitofusin 2							141.0	118.0	126.0					1																	12071583		2203	4300	6503	SO:0001819	synonymous_variant	9927				blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr1:12071583C>T	AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.2235C>T	1.37:g.12071583C>T						MFN2_ENST00000444836.1_Silent_p.L745L	p.L745L	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)	19	2557	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	745					A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Silent	SNP	ENST00000235329.5	37	c.2235C>T	CCDS30587.1																																																																																				0.537	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006859.2	NM_014874		46	75	0	0	0	1	0	46	75				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			31	61	0	0	0	1	0	31	61				
MYH14	79784	broad.mit.edu	37	19	50764812	50764812	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr19:50764812G>T	ENST00000596571.1	+	18	2382	c.2382G>T	c.(2380-2382)caG>caT	p.Q794H	MYH14_ENST00000376970.2_Missense_Mutation_p.Q827H|MYH14_ENST00000440075.2_Missense_Mutation_p.Q835H|MYH14_ENST00000262269.8_Missense_Mutation_p.Q835H|MYH14_ENST00000425460.1_Missense_Mutation_p.Q802H|MYH14_ENST00000601313.1_Missense_Mutation_p.Q835H|MYH14_ENST00000598205.1_Missense_Mutation_p.Q802H			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	794	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.Q794H(2)|p.Q835H(2)		central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TCCTGGCCCAGCTGGAAGAGG	0.647																																						ENST00000440075.2																			4	Substitution - Missense(4)	p.Q794H(2)|p.Q835H(2)	lung(2)|endometrium(2)	central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(2503-2505)caG>caT		myosin, heavy chain 14, non-muscle							37.0	42.0	40.0					19																	50764812		2092	4235	6327	SO:0001583	missense	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50764812G>T	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.2382G>T	19.37:g.50764812G>T	ENSP00000472819:p.Gln794His					MYH14_ENST00000601313.1_Missense_Mutation_p.Q835H|MYH14_ENST00000425460.1_Missense_Mutation_p.Q802H|MYH14_ENST00000598205.1_Missense_Mutation_p.Q802H|MYH14_ENST00000376970.2_Missense_Mutation_p.Q827H|MYH14_ENST00000596571.1_Missense_Mutation_p.Q794H|MYH14_ENST00000262269.8_Missense_Mutation_p.Q835H	p.Q835H			Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	21	2552	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	794					B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	c.2505G>T	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	G	1.066	-0.671391	0.03403	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59	4.48	0.947	0.19555	Myosin head, motor domain (1);	.	.	.	.	T	0.37839	0.1018	N	0.03194	-0.395	0.31545	N	0.659488	B;B;B	0.15719	0.014;0.003;0.005	B;B;B	0.19148	0.024;0.006;0.006	T	0.31420	-0.9944	9	0.12430	T	0.62	.	1.8085	0.03085	0.1802:0.1607:0.4942:0.1648	.	835;794;802	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	H	794;835;827;802;794;835	ENSP00000406273:Q835H;ENSP00000366169:Q827H;ENSP00000407879:Q802H;ENSP00000262269:Q835H	ENSP00000262269:Q835H	Q	+	3	2	MYH14	55456624	0.866000	0.29940	1.000000	0.80357	0.990000	0.78478	-0.030000	0.12308	0.209000	0.20645	0.555000	0.69702	CAG		0.647	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		5	50	1	0	0.000602214	1	0.000619421	5	50				
FTMT	94033	broad.mit.edu	37	5	121187709	121187709	+	Silent	SNP	G	G	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr5:121187709G>A	ENST00000321339.1	+	1	60	c.51G>A	c.(49-51)gcG>gcA	p.A17A		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	17					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CTTCGCTGGCGTCTCTGCGCC	0.726																																						ENST00000321339.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(49-51)gcG>gcA		ferritin mitochondrial							20.0	22.0	21.0					5																	121187709		2201	4297	6498	SO:0001819	synonymous_variant	94033				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	g.chr5:121187709G>A	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.51G>A	5.37:g.121187709G>A							p.A17A	NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	1	60	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	17						Silent	SNP	ENST00000321339.1	37	c.51G>A	CCDS4128.1																																																																																				0.726	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		3	45	0	0	0	1	0	3	45				
PLPPR4	9890	broad.mit.edu	37	1	99753520	99753520	+	Splice_Site	SNP	G	G	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:99753520G>C	ENST00000370185.3	+	2	719		c.e2-1		LPPR4_ENST00000457765.1_Splice_Site	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN							axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TTCATTCTTAGTTGCCTATAT	0.433																																						ENST00000370185.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72						c.e2-1									129.0	112.0	118.0					1																	99753520		2203	4300	6503	SO:0001630	splice_region_variant	0						phosphatidate phosphatase activity	g.chr1:99753520G>C																												ENST00000370185.3:c.223-1G>C	1.37:g.99753520G>C						LPPR4_ENST00000457765.1_Splice_Site		NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	2	719	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)						E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Splice_Site	SNP	ENST00000370185.3	37		CCDS757.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978216	0.74360	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178	.	.	.	5.79	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7628	0.69617	0.0694:0.0:0.9306:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RP4-788L13.1	99526108	1.000000	0.71417	0.999000	0.59377	0.932000	0.56968	9.848000	0.99507	1.437000	0.47472	0.557000	0.71058	.		0.433	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2		Intron	5	111	0	0	0	1	0	5	111				
SEC24B	10427	broad.mit.edu	37	4	110445986	110445986	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr4:110445986C>G	ENST00000265175.5	+	15	2576	c.2521C>G	c.(2521-2523)Ctt>Gtt	p.L841V	SEC24B_ENST00000399100.2_Missense_Mutation_p.L806V|SEC24B_ENST00000504968.2_Missense_Mutation_p.L871V	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	841					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		GGTACAACATCTTGGCCCTGC	0.363																																						ENST00000265175.5																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2521-2523)Ctt>Gtt		SEC24 family member B							126.0	120.0	122.0					4																	110445986		1847	4088	5935	SO:0001583	missense	10427				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	g.chr4:110445986C>G	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.2521C>G	4.37:g.110445986C>G	ENSP00000265175:p.Leu841Val					SEC24B_ENST00000399100.2_Missense_Mutation_p.L806V|SEC24B_ENST00000504968.2_Missense_Mutation_p.L871V	p.L841V	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	15	2576	+		Hepatocellular(203;0.217)	841					B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	ENST00000265175.5	37	c.2521C>G	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.685852	0.68157	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	T;T;T	0.77620	-1.11;-1.11;-1.11	6.17	6.17	0.99709	Sec23/Sec24, trunk domain (1);	0.000000	0.85682	D	0.000000	D	0.89615	0.6766	M	0.89715	3.055	0.80722	D	1	D;D;D;D;D	0.71674	0.996;0.975;0.998;0.997;0.998	D;D;D;D;D	0.73380	0.957;0.939;0.98;0.955;0.957	D	0.90671	0.4598	10	0.72032	D	0.01	-28.7478	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	755;440;871;806;841	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	V	871;806;841	ENSP00000428564:L871V;ENSP00000382051:L806V;ENSP00000265175:L841V	ENSP00000265175:L841V	L	+	1	0	SEC24B	110665435	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.592000	0.46171	2.941000	0.99782	0.655000	0.94253	CTT		0.363	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2			5	97	0	0	0	1	0	5	97				
ZFP64	55734	broad.mit.edu	37	20	50701276	50701276	+	Silent	SNP	G	G	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr20:50701276G>A	ENST00000361387.2	-	9	1818	c.1758C>T	c.(1756-1758)ggC>ggT	p.G586G	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371523.4_Silent_p.G367G	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	431					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CGAAGGAGGCGCCGCAGGTCT	0.597																																						ENST00000361387.2																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1756-1758)ggC>ggT		ZFP64 zinc finger protein							57.0	48.0	51.0					20																	50701276		2203	4300	6503	SO:0001819	synonymous_variant	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50701276G>A	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000361387.2:c.1758C>T	20.37:g.50701276G>A						ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371523.4_Silent_p.G367G	p.G586G	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN			9	1818	-			431					Q9NTS7|Q9NVH4	Silent	SNP	ENST00000361387.2	37	c.1758C>T	CCDS13439.1																																																																																				0.597	ZFP64-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079743.2	NM_018197		14	36	0	0	0	1	0	14	36				
TMEM168	64418	broad.mit.edu	37	7	112424325	112424325	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr7:112424325C>A	ENST00000312814.6	-	2	1116	c.556G>T	c.(556-558)Gct>Tct	p.A186S	TMEM168_ENST00000454074.1_Missense_Mutation_p.A186S	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	186						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						ATAGCCAGAGCTACAACAAGC	0.363																																						ENST00000312814.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						c.(556-558)Gct>Tct		transmembrane protein 168							53.0	52.0	52.0					7																	112424325		2202	4300	6502	SO:0001583	missense	64418					integral to membrane|transport vesicle		g.chr7:112424325C>A		CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.556G>T	7.37:g.112424325C>A	ENSP00000323068:p.Ala186Ser					TMEM168_ENST00000454074.1_Missense_Mutation_p.A186S	p.A186S	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN			2	1116	-			186					A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Missense_Mutation	SNP	ENST00000312814.6	37	c.556G>T	CCDS5757.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.668222	0.29604	.	.	ENSG00000146802	ENST00000312814;ENST00000454074	.	.	.	6.06	6.06	0.98353	.	0.044336	0.85682	D	0.000000	T	0.68100	0.2964	L	0.59436	1.845	0.80722	D	1	B	0.28760	0.221	B	0.30855	0.121	T	0.63928	-0.6526	9	0.46703	T	0.11	-17.8827	20.6397	0.99537	0.0:1.0:0.0:0.0	.	186	Q9H0V1	TM168_HUMAN	S	186	.	ENSP00000323068:A186S	A	-	1	0	TMEM168	112211561	1.000000	0.71417	0.997000	0.53966	0.405000	0.30901	5.999000	0.70665	2.880000	0.98712	0.650000	0.86243	GCT		0.363	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4	NM_022484		4	108	1	0	0.184627	1	0.186353	4	108				
ANAPC7	51434	broad.mit.edu	37	12	110824234	110824234	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr12:110824234G>C	ENST00000455511.3	-	6	817	c.817C>G	c.(817-819)Cta>Gta	p.L273V	ANAPC7_ENST00000450008.2_Missense_Mutation_p.L273V|RP11-478C19.2_ENST00000550231.1_RNA	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	273					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						CTTCCCAATAGGTCCACGTTA	0.353																																						ENST00000455511.3																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						c.(817-819)Cta>Gta		anaphase promoting complex subunit 7							224.0	223.0	223.0					12																	110824234		2203	4300	6503	SO:0001583	missense	51434				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding	g.chr12:110824234G>C	AF191340	CCDS9145.2, CCDS44971.1	12q13.12	2013-01-10			ENSG00000196510	ENSG00000196510		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	17380	protein-coding gene	gene with protein product		606949					Standard	NM_016238		Approved	APC7	uc001tqo.2	Q9UJX3	OTTHUMG00000157009	ENST00000455511.3:c.817C>G	12.37:g.110824234G>C	ENSP00000394394:p.Leu273Val					ANAPC7_ENST00000450008.2_Missense_Mutation_p.L273V	p.L273V	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN			6	817	-			273					Q96AC4|Q96GF4|Q9BU24|Q9NT16	Missense_Mutation	SNP	ENST00000455511.3	37	c.817C>G	CCDS9145.2	.	.	.	.	.	.	.	.	.	.	G	11.88	1.770537	0.31320	.	.	ENSG00000196510	ENST00000455511;ENST00000450008	T;T	0.53423	1.17;0.62	5.37	4.48	0.54585	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.27489	0.0675	N	0.24115	0.695	0.52099	D	0.999947	B;B	0.19817	0.039;0.03	B;B	0.17722	0.019;0.016	T	0.06734	-1.0810	10	0.07482	T	0.82	-18.4922	7.6511	0.28348	0.1457:0.0:0.7198:0.1345	.	273;273	Q9UJX3-2;Q9UJX3	.;APC7_HUMAN	V	273	ENSP00000394394:L273V;ENSP00000402314:L273V	ENSP00000402314:L273V	L	-	1	2	ANAPC7	109308617	1.000000	0.71417	0.985000	0.45067	0.995000	0.86356	3.115000	0.50391	1.257000	0.44085	0.655000	0.94253	CTA		0.353	ANAPC7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347075.3	NM_016238		113	162	0	0	0	1	0	113	162				
TIGD2	166815	broad.mit.edu	37	4	90035215	90035215	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr4:90035215G>T	ENST00000317005.2	+	1	1248	c.1090G>T	c.(1090-1092)Gat>Tat	p.D364Y	RP11-84C13.1_ENST00000603357.1_lincRNA|FAM13A_ENST00000502459.1_5'Flank	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	364	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		GACAGTGTTGGATGCAATTTA	0.378																																						ENST00000317005.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14						c.(1090-1092)Gat>Tat		tigger transposable element derived 2							79.0	79.0	79.0					4																	90035215		2203	4300	6503	SO:0001583	missense	166815				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr4:90035215G>T	AK027653	CCDS3633.1	4q21.3	2013-02-21			ENSG00000180346	ENSG00000180346			18333	protein-coding gene	gene with protein product		612973					Standard	NM_145715		Approved		uc003hsk.3	Q4W5G0	OTTHUMG00000130946	ENST00000317005.2:c.1090G>T	4.37:g.90035215G>T	ENSP00000317170:p.Asp364Tyr						p.D364Y	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)	1	1248	+		Hepatocellular(203;0.114)	364			DDE.			Missense_Mutation	SNP	ENST00000317005.2	37	c.1090G>T	CCDS3633.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.434521	0.43224	.	.	ENSG00000180346	ENST00000317005	T	0.49720	0.77	4.36	3.52	0.40303	.	0.000000	0.43919	D	0.000517	T	0.70937	0.3281	M	0.90425	3.115	0.33618	D	0.604469	D	0.89917	1.0	D	0.97110	1.0	T	0.81024	-0.1120	10	0.87932	D	0	-7.9565	9.8692	0.41164	0.1011:0.0:0.8989:0.0	.	364	Q4W5G0	TIGD2_HUMAN	Y	364	ENSP00000317170:D364Y	ENSP00000317170:D364Y	D	+	1	0	TIGD2	90254238	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	4.132000	0.57977	1.060000	0.40578	0.460000	0.39030	GAT		0.378	TIGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253545.2	NM_145715		27	43	1	0	4.65686e-17	1	5.02941e-17	27	43				
AIM1	202	broad.mit.edu	37	6	107009224	107009224	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr6:107009224T>C	ENST00000369066.3	+	18	5250	c.4763T>C	c.(4762-4764)aTt>aCt	p.I1588T	AIM1_ENST00000535438.1_Missense_Mutation_p.I407T	NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TAGAAGCGAATTTATTTCAGA	0.418																																						ENST00000369066.3																			0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(4762-4764)aTt>aCt		absent in melanoma 1							81.0	83.0	82.0					6																	107009224		2203	4300	6503	SO:0001583	missense	202						sugar binding	g.chr6:107009224T>C	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.4763T>C	6.37:g.107009224T>C	ENSP00000358062:p.Ile1588Thr					AIM1_ENST00000535438.1_Missense_Mutation_p.I407T	p.I1588T	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	18	5250	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	1588			Ricin B-type lectin.		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.4763T>C	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.319357	0.81469	.	.	ENSG00000112297	ENST00000369066;ENST00000535438	T;T	0.73469	-0.75;-0.74	5.84	5.84	0.93424	Ricin B-related lectin (1);Beta/gamma crystallin (1);Ricin B lectin (2);	0.094086	0.46442	D	0.000287	T	0.64068	0.2565	L	0.40543	1.245	0.48135	D	0.999594	B;P	0.36647	0.357;0.563	B;B	0.42062	0.114;0.374	T	0.71484	-0.4579	10	0.87932	D	0	.	16.2108	0.82158	0.0:0.0:0.0:1.0	.	407;1588	B4DU04;Q9Y4K1	.;AIM1_HUMAN	T	1588;407	ENSP00000358062:I1588T;ENSP00000439183:I407T	ENSP00000358062:I1588T	I	+	2	0	AIM1	107115917	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.395000	0.66291	2.232000	0.73038	0.533000	0.62120	ATT		0.418	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			5	73	0	0	0	1	0	5	73				
RNF14	9604	broad.mit.edu	37	5	141353304	141353304	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr5:141353304A>G	ENST00000394520.2	+	3	460	c.151A>G	c.(151-153)Agc>Ggc	p.S51G	RNF14_ENST00000394514.2_5'UTR|RNF14_ENST00000502341.1_3'UTR|RNF14_ENST00000347642.3_Missense_Mutation_p.S51G|RNF14_ENST00000356143.1_Missense_Mutation_p.S51G|RNF14_ENST00000540015.1_Missense_Mutation_p.S51G|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000394515.3_Missense_Mutation_p.S51G|RNF14_ENST00000394519.1_Missense_Mutation_p.S51G	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	51	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.				androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription, DNA-templated (GO:0045893)|protein ubiquitination (GO:0016567)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|small conjugating protein ligase activity (GO:0019787)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		GATATTTGTGAGCGGTTAGTT	0.308																																						ENST00000394520.2																			0				cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(151-153)Agc>Ggc		ring finger protein 14							56.0	59.0	58.0					5																	141353304		2201	4300	6501	SO:0001583	missense	9604				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding	g.chr5:141353304A>G	AF060544	CCDS4270.1, CCDS4271.1	5q23.3-q31.1	2008-02-05			ENSG00000013561	ENSG00000013561		"""RING-type (C3HC4) zinc fingers"""	10058	protein-coding gene	gene with protein product		605675				10085091, 10320776	Standard	NM_183399		Approved	ARA54, HFB30, TRIAD2	uc003lmc.3	Q9UBS8	OTTHUMG00000129660	ENST00000394520.2:c.151A>G	5.37:g.141353304A>G	ENSP00000378028:p.Ser51Gly					RNF14_ENST00000394515.3_Missense_Mutation_p.S51G|RNF14_ENST00000356143.1_Missense_Mutation_p.S51G|RNF14_ENST00000394519.1_Missense_Mutation_p.S51G|RNF14_ENST00000394514.2_5'UTR|RNF14_ENST00000502341.1_3'UTR|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000540015.1_Missense_Mutation_p.S51G|RNF14_ENST00000347642.3_Missense_Mutation_p.S51G	p.S51G	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)	3	460	+		all_hematologic(541;0.0536)|Ovarian(839;0.118)	51			RWD.		A0AV26|A6NMR2|A8MTW5|B3KN72|B7ZLV2|D3DQE4|O94793|Q6IBV0	Missense_Mutation	SNP	ENST00000394520.2	37	c.151A>G	CCDS4270.1	.	.	.	.	.	.	.	.	.	.	A	18.00	3.525632	0.64860	.	.	ENSG00000013561	ENST00000511961;ENST00000506822;ENST00000513019;ENST00000356143;ENST00000394520;ENST00000347642;ENST00000540015;ENST00000506938;ENST00000512565;ENST00000394515;ENST00000507163;ENST00000394519;ENST00000507291	T;T;T;T;T;T;T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	5.91	5.91	0.95273	Ubiquitin-conjugating enzyme/RWD-like (2);RWD domain (3);	0.298471	0.47455	D	0.000227	T	0.35885	0.0947	L	0.29908	0.895	0.80722	D	1	P;B;B	0.47677	0.899;0.005;0.042	B;B;B	0.43478	0.421;0.025;0.18	T	0.06826	-1.0805	10	0.25106	T	0.35	.	16.3432	0.83101	1.0:0.0:0.0:0.0	.	51;51;51	B7Z3J5;B7Z229;Q9UBS8	.;.;RNF14_HUMAN	G	51	ENSP00000423420:S51G;ENSP00000423273:S51G;ENSP00000421780:S51G;ENSP00000348462:S51G;ENSP00000378028:S51G;ENSP00000324956:S51G;ENSP00000442490:S51G;ENSP00000420837:S51G;ENSP00000426832:S51G;ENSP00000378023:S51G;ENSP00000422527:S51G;ENSP00000378027:S51G;ENSP00000423294:S51G	ENSP00000324956:S51G	S	+	1	0	RNF14	141333488	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.633000	0.90999	2.263000	0.75096	0.377000	0.23210	AGC		0.308	RNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251860.2	NM_004290		4	66	0	0	0	1	0	4	66				
AKAP6	9472	broad.mit.edu	37	14	33292355	33292355	+	Missense_Mutation	SNP	T	T	G	rs74712664		TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr14:33292355T>G	ENST00000280979.4	+	13	5506	c.5336T>G	c.(5335-5337)aTt>aGt	p.I1779S	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1779					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GACTCCAGTATTGCAACAGAT	0.433																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(5335-5337)aTt>aGt		A kinase (PRKA) anchor protein 6							106.0	99.0	101.0					14																	33292355		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33292355T>G	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.5336T>G	14.37:g.33292355T>G	ENSP00000280979:p.Ile1779Ser					AKAP6_ENST00000557272.1_Intron	p.I1779S	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	5506	+	Breast(36;0.0388)|Prostate(35;0.15)		1779					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.5336T>G	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	T	14.80	2.642354	0.47153	.	.	ENSG00000151320	ENST00000280979	T	0.06768	3.26	5.63	5.63	0.86233	.	0.274221	0.37136	N	0.002229	T	0.24661	0.0598	L	0.53249	1.67	0.80722	D	1	D	0.71674	0.998	D	0.72982	0.979	T	0.00280	-1.1852	10	0.56958	D	0.05	-14.4196	15.4899	0.75597	0.0:0.0:0.0:1.0	.	1779	Q13023	AKAP6_HUMAN	S	1779	ENSP00000280979:I1779S	ENSP00000280979:I1779S	I	+	2	0	AKAP6	32362106	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.458000	0.60095	2.141000	0.66446	0.528000	0.53228	ATT		0.433	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		31	52	0	0	0	1	0	31	52				
ZAN	7455	broad.mit.edu	37	7	100349878	100349878	+	RNA	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr7:100349878C>T	ENST00000348028.3	+	0	2315				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P717L(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCAGAAAAACCCACCATCCCC	0.507																																						ENST00000542585.1																			2	Substitution - Missense(2)	p.P717L(2)	lung(2)	NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							164.0	184.0	178.0					7																	100349878		1828	4078	5906			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100349878C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100349878C>T						ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2298	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	c	9.939	1.216877	0.22373	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.63096	-0.02;-0.02;-0.02	3.75	1.86	0.25419	.	.	.	.	.	T	0.52273	0.1724	L	0.52573	1.65	0.20074	N	0.999932	B;B	0.21606	0.058;0.035	B;B	0.16289	0.015;0.007	T	0.49331	-0.8951	9	0.87932	D	0	.	6.3325	0.21279	0.1829:0.7123:0.0:0.1048	.	717;717	F5H0T8;Q9Y493	.;ZAN_HUMAN	L	717	ENSP00000445943:P717L;ENSP00000445091:P717L;ENSP00000444427:P717L	ENSP00000423579:P717L	P	+	2	0	ZAN	100187814	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.225000	0.02956	0.315000	0.23110	0.555000	0.69702	CCC		0.507	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		4	128	0	0	0	1	0	4	128				
AMER3	205147	broad.mit.edu	37	2	131520232	131520232	+	Missense_Mutation	SNP	G	G	A	rs146781752		TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr2:131520232G>A	ENST00000423981.1	+	2	697	c.587G>A	c.(586-588)cGg>cAg	p.R196Q	AMER3_ENST00000321420.4_Missense_Mutation_p.R196Q	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	196					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										CCTGGGGGGCGGCGAAGCAAA	0.667													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15694	0.0		0.0	False		,,,				2504	0.0					ENST00000423981.1																			0											c.(586-588)cGg>cAg		APC membrane recruitment protein 3		G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	3,4395		0,3,2196	25.0	31.0	29.0		587,587,587,587	-1.6	0.0	2	dbSNP_134	29	2,8566		0,2,4282	no	missense,missense,missense,missense	FAM123C	NM_001105193.1,NM_001105194.1,NM_001105195.1,NM_152698.2	43,43,43,43	0,5,6478	AA,AG,GG		0.0233,0.0682,0.0386	benign,benign,benign,benign	196/862,196/862,196/862,196/862	131520232	5,12961	2199	4284	6483	SO:0001583	missense	205147							g.chr2:131520232G>A	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.587G>A	2.37:g.131520232G>A	ENSP00000392700:p.Arg196Gln					AMER3_ENST00000321420.4_Missense_Mutation_p.R196Q	p.R196Q	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2					2	697	+								B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	c.587G>A	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	G	2.730	-0.264665	0.05754	6.82E-4	2.33E-4	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.47869	0.83;0.83	5.21	-1.62	0.08372	.	1.448950	0.03947	N	0.287921	T	0.25680	0.0625	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.12993	-1.0526	10	0.25751	T	0.34	.	6.0546	0.19804	0.3661:0.1579:0.476:0.0	.	196	Q8N944	F123C_HUMAN	Q	196	ENSP00000314914:R196Q;ENSP00000392700:R196Q	ENSP00000314914:R196Q	R	+	2	0	FAM123C	131236702	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.519000	0.22862	-0.177000	0.10690	-0.367000	0.07326	CGG		0.667	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		3	46	0	0	0	1	0	3	46				
CXCR4	7852	broad.mit.edu	37	2	136872470	136872470	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr2:136872470T>C	ENST00000241393.3	-	2	1132	c.1028A>G	c.(1027-1029)gAg>gGg	p.E343G	CXCR4_ENST00000409817.1_Missense_Mutation_p.E347G|CXCR4_ENST00000466288.1_5'UTR	NM_003467.2	NP_003458.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	343					activation of MAPK activity (GO:0000187)|ameboidal cell migration (GO:0001667)|apoptotic process (GO:0006915)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular response to cytokine stimulus (GO:0071345)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|inflammatory response (GO:0006954)|motor neuron axon guidance (GO:0008045)|myelin maintenance (GO:0043217)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|neutrophil activation (GO:0042119)|patterning of blood vessels (GO:0001569)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of chemotaxis (GO:0050920)|response to hypoxia (GO:0001666)|response to virus (GO:0009615)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)|myosin light chain binding (GO:0032027)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)|Plerixafor(DB06809)	AGACTCAGACTCAGTGGAAAC	0.403																																						ENST00000409817.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1039-1041)gAg>gGg		chemokine (C-X-C motif) receptor 4	Framycetin(DB00452)						153.0	147.0	149.0					2																	136872470		2203	4300	6503	SO:0001583	missense	0				activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding	g.chr2:136872470T>C	AF005058	CCDS33295.1, CCDS46420.1	2q21	2014-09-17	2002-08-22		ENSG00000121966	ENSG00000121966		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	2561	protein-coding gene	gene with protein product		162643	"""chemokine (C-X-C motif), receptor 4 (fusin)"""			9599023, 9379028	Standard	NM_001008540		Approved	LESTR, NPY3R, HM89, NPYY3R, D2S201E, fusin, HSY3RR, NPYR, CD184	uc002tuz.3	P61073	OTTHUMG00000153583	ENST00000241393.3:c.1028A>G	2.37:g.136872470T>C	ENSP00000241393:p.Glu343Gly					CXCR4_ENST00000241393.3_Missense_Mutation_p.E343G|CXCR4_ENST00000466288.1_5'UTR	p.E347G	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.155)	1	1343	-			343					B2R5N0|O60835|P30991|P56438|Q53S69|Q9BXA0|Q9UKN2	Missense_Mutation	SNP	ENST00000241393.3	37	c.1040A>G	CCDS46420.1	.	.	.	.	.	.	.	.	.	.	T	14.94	2.686291	0.47991	.	.	ENSG00000121966	ENST00000409817;ENST00000241393;ENST00000537957	T;T	0.61158	0.13;0.13	5.95	5.95	0.96441	.	0.095984	0.64402	D	0.000001	T	0.59810	0.2221	N	0.14661	0.345	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.83275	0.991;0.996	T	0.57112	-0.7867	10	0.15952	T	0.53	.	16.4323	0.83853	0.0:0.0:0.0:1.0	.	343;347	P61073;P61073-2	CXCR4_HUMAN;.	G	347;343;213	ENSP00000386884:E347G;ENSP00000241393:E343G	ENSP00000241393:E343G	E	-	2	0	CXCR4	136588940	1.000000	0.71417	0.925000	0.36789	0.773000	0.43773	7.698000	0.84413	2.281000	0.76405	0.528000	0.53228	GAG		0.403	CXCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331732.1			8	9	0	0	0	1	0	8	9				
NAV1	89796	broad.mit.edu	37	1	201618190	201618190	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:201618190G>C	ENST00000367296.4	+	1	814	c.394G>C	c.(394-396)Gct>Cct	p.A132P	NAV1_ENST00000295624.6_Missense_Mutation_p.A132P|NAV1_ENST00000367300.3_Missense_Mutation_p.A132P|NAV1_ENST00000367302.1_Missense_Mutation_p.A145P|NAV1_ENST00000367297.4_Missense_Mutation_p.A132P	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	132					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GGGCCGTGAAGCTCCGCTGAT	0.647																																						ENST00000367296.4																			0				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						c.(394-396)Gct>Cct		neuron navigator 1							44.0	45.0	45.0					1																	201618190		2203	4300	6503	SO:0001583	missense	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201618190G>C	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.394G>C	1.37:g.201618190G>C	ENSP00000356265:p.Ala132Pro					NAV1_ENST00000367300.3_Missense_Mutation_p.A132P|NAV1_ENST00000367297.4_Missense_Mutation_p.A132P|NAV1_ENST00000367302.1_Missense_Mutation_p.A145P|NAV1_ENST00000295624.6_Missense_Mutation_p.A132P	p.A132P	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN			1	814	+			132					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	ENST00000367296.4	37	c.394G>C	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	G	12.53	1.965494	0.34659	.	.	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	4.89	0.555	0.17247	.	0.613838	0.15683	N	0.249839	T	0.18841	0.0452	N	0.08118	0	0.09310	N	0.999997	B	0.06786	0.001	B	0.04013	0.001	T	0.13737	-1.0498	10	0.37606	T	0.19	-0.6057	5.2335	0.15434	0.268:0.2359:0.4961:0.0	.	132	Q8NEY1-3	.	P	145;132;132;132;132	ENSP00000356271:A145P;ENSP00000356265:A132P;ENSP00000295624:A132P;ENSP00000356266:A132P;ENSP00000356269:A132P	ENSP00000295624:A132P	A	+	1	0	NAV1	199884813	0.927000	0.31430	0.789000	0.31954	0.945000	0.59286	1.069000	0.30641	0.114000	0.18032	0.313000	0.20887	GCT		0.647	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		9	18	0	0	0	1	0	9	18				
RAD54L2	23132	broad.mit.edu	37	3	51663382	51663382	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr3:51663382T>C	ENST00000409535.2	+	4	499	c.374T>C	c.(373-375)gTt>gCt	p.V125A	RAD54L2_ENST00000296477.3_5'Flank	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	125						nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		TTGGAGCCTGTTACCAAAGCA	0.463																																						ENST00000409535.1																			0				NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31						c.(373-375)gTt>gCt		RAD54-like 2 (S. cerevisiae)							87.0	83.0	85.0					3																	51663382		2203	4299	6502	SO:0001583	missense	23132					nucleus	ATP binding|DNA binding|helicase activity	g.chr3:51663382T>C	AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.374T>C	3.37:g.51663382T>C	ENSP00000386520:p.Val125Ala						p.V125A	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)	4	499	+			125					Q8TB57|Q9BV54	Missense_Mutation	SNP	ENST00000409535.2	37	c.374T>C	CCDS33765.2	.	.	.	.	.	.	.	.	.	.	T	11.77	1.738227	0.30774	.	.	ENSG00000164080	ENST00000409535	T	0.30448	1.53	5.67	5.67	0.87782	.	0.111526	0.64402	D	0.000011	T	0.22003	0.0530	L	0.36672	1.1	0.80722	D	1	P	0.38504	0.634	B	0.33690	0.168	T	0.04229	-1.0967	10	0.08381	T	0.77	-12.5349	15.1082	0.72336	0.0:0.0:0.0:1.0	.	125	Q9Y4B4	ARIP4_HUMAN	A	125	ENSP00000386520:V125A	ENSP00000386520:V125A	V	+	2	0	RAD54L2	51638422	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.209000	0.51122	2.159000	0.67721	0.533000	0.62120	GTT		0.463	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328700.2	NM_015106		5	7	0	0	0	1	0	5	7				
NLRP3	114548	broad.mit.edu	37	1	247608070	247608070	+	Silent	SNP	C	C	G			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:247608070C>G	ENST00000336119.3	+	8	3704	c.2958C>G	c.(2956-2958)gtC>gtG	p.V986V	NLRP3_ENST00000391828.3_Silent_p.V986V|NLRP3_ENST00000391827.2_Silent_p.V929V|NLRP3_ENST00000366497.2_Silent_p.V929V|NLRP3_ENST00000366496.2_Silent_p.V929V|NLRP3_ENST00000348069.2_Silent_p.V872V	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	986					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ACCTGGGGGTCATGATGTTCT	0.577																																						ENST00000366497.2																			0				NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(2785-2787)gtC>gtG		NLR family, pyrin domain containing 3							63.0	56.0	58.0					1																	247608070		2203	4300	6503	SO:0001819	synonymous_variant	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247608070C>G	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2958C>G	1.37:g.247608070C>G						NLRP3_ENST00000366496.2_Silent_p.V929V|NLRP3_ENST00000336119.3_Silent_p.V986V|NLRP3_ENST00000391828.3_Silent_p.V986V|NLRP3_ENST00000348069.2_Silent_p.V872V|NLRP3_ENST00000391827.2_Silent_p.V929V	p.V929V	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		8	3567	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	986					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Silent	SNP	ENST00000336119.3	37	c.2787C>G	CCDS1632.1																																																																																				0.577	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		4	52	0	0	0	1	0	4	52				
NLRP13	126204	broad.mit.edu	37	19	56423195	56423195	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr19:56423195A>T	ENST00000342929.3	-	5	1987	c.1988T>A	c.(1987-1989)cTt>cAt	p.L663H	NLRP13_ENST00000588751.1_Missense_Mutation_p.L663H	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	663							ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CAAAATATTAAGGTCAACTTC	0.403																																						ENST00000588751.1																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109						c.(1987-1989)cTt>cAt		NLR family, pyrin domain containing 13							100.0	101.0	100.0					19																	56423195		2203	4300	6503	SO:0001583	missense	126204						ATP binding	g.chr19:56423195A>T	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.1988T>A	19.37:g.56423195A>T	ENSP00000343891:p.Leu663His					NLRP13_ENST00000342929.3_Missense_Mutation_p.L663H	p.L663H			Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	5	2012	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	663					Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	c.1988T>A	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	A	12.96	2.095036	0.36952	.	.	ENSG00000173572	ENST00000342929	T	0.60548	0.18	2.48	2.48	0.30137	.	.	.	.	.	T	0.66036	0.2749	L	0.52126	1.63	0.09310	N	1	D	0.89917	1.0	D	0.71414	0.973	T	0.52026	-0.8630	9	0.87932	D	0	.	7.1595	0.25657	1.0:0.0:0.0:0.0	.	663	Q86W25	NAL13_HUMAN	H	663	ENSP00000343891:L663H	ENSP00000343891:L663H	L	-	2	0	NLRP13	61115007	0.009000	0.17119	0.011000	0.14972	0.089000	0.18198	1.321000	0.33678	1.121000	0.41925	0.443000	0.29094	CTT		0.403	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		4	78	0	0	0	1	0	4	78				
RXRA	6256	broad.mit.edu	37	9	137293638	137293638	+	Silent	SNP	G	G	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr9:137293638G>A	ENST00000481739.1	+	2	241	c.189G>A	c.(187-189)ccG>ccA	p.P63P	RXRA_ENST00000356384.4_3'UTR	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	63	Modulating. {ECO:0000250}.				camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	GCATGGGCCCGCCTTTCTCGG	0.697																																						ENST00000481739.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(187-189)ccG>ccA		retinoid X receptor, alpha	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)						56.0	60.0	58.0					9																	137293638		2202	4299	6501	SO:0001819	synonymous_variant	6256				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	g.chr9:137293638G>A	X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"""Nuclear hormone receptors"""	10477	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 1"""	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.189G>A	9.37:g.137293638G>A						RXRA_ENST00000356384.4_3'UTR	p.P63P	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	2	241	+			63			Modulating (By similarity).		B3KY83|Q2NL52|Q2V504	Silent	SNP	ENST00000481739.1	37	c.189G>A	CCDS35172.1																																																																																				0.697	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054949.1	NM_002957		77	113	0	0	0	1	0	77	113				
GJA8	2703	broad.mit.edu	37	1	147381232	147381232	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:147381232G>C	ENST00000369235.1	+	1	1150	c.1150G>C	c.(1150-1152)Gaa>Caa	p.E384Q	GJA8_ENST00000240986.4_Missense_Mutation_p.E384Q			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	384					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GGGTGAAAAAGAAGAGCCGCA	0.582																																					Melanoma(76;1255 1795 8195 52096)	ENST00000240986.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37						c.(1150-1152)Gaa>Caa		gap junction protein, alpha 8, 50kDa							52.0	56.0	55.0					1																	147381232		2203	4300	6503	SO:0001583	missense	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147381232G>C	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.1150G>C	1.37:g.147381232G>C	ENSP00000358238:p.Glu384Gln					GJA8_ENST00000369235.1_Missense_Mutation_p.E384Q	p.E384Q	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN			2	1203	+	all_hematologic(923;0.0276)		384					A7L5M5|Q5VVN9|Q9NP25	Missense_Mutation	SNP	ENST00000369235.1	37	c.1150G>C	CCDS30834.1	.	.	.	.	.	.	.	.	.	.	g	8.004	0.756078	0.15846	.	.	ENSG00000121634	ENST00000240986;ENST00000369235	D;D	0.97994	-4.65;-4.65	4.02	3.1	0.35709	.	7739.210000	0.00166	N	0.000000	D	0.93145	0.7817	L	0.44542	1.39	0.42535	D	0.993059	B	0.15719	0.014	B	0.12156	0.007	T	0.80453	-0.1376	10	0.30078	T	0.28	.	10.0132	0.41999	0.0:0.2044:0.7956:0.0	.	384	P48165	CXA8_HUMAN	Q	384	ENSP00000240986:E384Q;ENSP00000358238:E384Q	ENSP00000240986:E384Q	E	+	1	0	GJA8	145847856	0.675000	0.27558	0.804000	0.32291	0.512000	0.34134	1.285000	0.33261	1.256000	0.44068	0.655000	0.94253	GAA		0.582	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		7	6	0	0	0	1	0	7	6				
OR4C11	219429	broad.mit.edu	37	11	55371099	55371099	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr11:55371099G>T	ENST00000302231.4	-	1	775	c.751C>A	c.(751-753)Cca>Aca	p.P251T		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						AATATACATGGGCCAAAGAAT	0.438																																						ENST00000302231.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						c.(751-753)Cca>Aca		olfactory receptor, family 4, subfamily C, member 11							68.0	58.0	61.0					11																	55371099		2179	4006	6185	SO:0001583	missense	219429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55371099G>T	AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"""GPCR / Class A : Olfactory receptors"""	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.751C>A	11.37:g.55371099G>T	ENSP00000306651:p.Pro251Thr						p.P251T	NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN			1	775	-			251					B9EIL4|Q8NGL8	Missense_Mutation	SNP	ENST00000302231.4	37	c.751C>A	CCDS31503.1	.	.	.	.	.	.	.	.	.	.	G	8.859	0.946455	0.18356	.	.	ENSG00000172188	ENST00000302231	T	0.00022	9.01	4.34	3.42	0.39159	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	U	0.000182	T	0.00178	0.0005	N	0.21240	0.645	0.09310	N	1	D	0.63880	0.993	P	0.62813	0.907	T	0.56774	-0.7923	10	0.87932	D	0	.	9.6182	0.39706	0.1006:0.0:0.8994:0.0	.	251	Q6IEV9	OR4CB_HUMAN	T	251	ENSP00000306651:P251T	ENSP00000306651:P251T	P	-	1	0	OR4C11	55127675	0.000000	0.05858	0.099000	0.21106	0.008000	0.06430	-0.750000	0.04808	1.182000	0.42928	0.478000	0.44815	CCA		0.438	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		12	70	1	0	1.49906e-05	1	1.57183e-05	12	70				
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)cGg>cAg	Other conserved DNA damage response genes	tumor protein p53		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152.0	112.0	126.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1.0	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q	p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	875	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		44	62	0	0	0	1	0	44	62				
GOLGB1	2804	broad.mit.edu	37	3	121409831	121409831	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr3:121409831C>T	ENST00000340645.5	-	14	8490	c.8365G>A	c.(8365-8367)Gcc>Acc	p.A2789T	GOLGB1_ENST00000393667.3_Missense_Mutation_p.A2794T	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2789					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.A2789T(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		ATTGAAAAGGCGGTTTCAGAA	0.423																																						ENST00000393667.3																			1	Substitution - Missense(1)	p.A2789T(1)	ovary(1)	NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(8380-8382)Gcc>Acc		golgin B1							117.0	108.0	111.0					3																	121409831		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121409831C>T	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.8365G>A	3.37:g.121409831C>T	ENSP00000341848:p.Ala2789Thr					GOLGB1_ENST00000340645.5_Missense_Mutation_p.A2789T	p.A2794T	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	14	8490	-			2789					B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.8380G>A	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.869484	0.00547	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.15834	2.39;2.39	5.3	-7.44	0.01379	.	1.036540	0.07611	N	0.925375	T	0.09598	0.0236	L	0.41027	1.25	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.08055	0.003;0.002;0.002	T	0.36138	-0.9760	10	0.13108	T	0.6	.	5.1782	0.15146	0.3579:0.2669:0.0:0.3752	.	2794;2794;2789	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	T	2789;2794	ENSP00000341848:A2789T;ENSP00000377275:A2794T	ENSP00000341848:A2789T	A	-	1	0	GOLGB1	122892521	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.783000	0.04638	-2.029000	0.00930	-3.295000	0.00046	GCC		0.423	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		26	37	0	0	0	1	0	26	37				
ITGB6	3694	broad.mit.edu	37	2	160982991	160982991	+	Silent	SNP	G	G	A	rs562634905		TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr2:160982991G>A	ENST00000283249.2	-	11	2019	c.1782C>T	c.(1780-1782)cgC>cgT	p.R594R	ITGB6_ENST00000428609.2_Silent_p.R552R|ITGB6_ENST00000409872.1_Silent_p.R594R|ITGB6_ENST00000409967.2_Intron	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	594	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						CACAGTCCCCGCGCCCGCTGC	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		18079	0.0		0.0	False		,,,				2504	0.001					ENST00000283249.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(1780-1782)cgC>cgT		integrin, beta 6							90.0	78.0	82.0					2																	160982991		2203	4300	6503	SO:0001819	synonymous_variant	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:160982991G>A		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.1782C>T	2.37:g.160982991G>A						ITGB6_ENST00000428609.2_Silent_p.R552R|ITGB6_ENST00000409872.1_Silent_p.R594R|ITGB6_ENST00000409967.2_Intron	p.R594R			P18564	ITB6_HUMAN			11	2019	-			594			Cysteine-rich tandem repeats.		B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Silent	SNP	ENST00000283249.2	37	c.1782C>T	CCDS2212.1																																																																																				0.577	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		6	99	0	0	0	1	0	6	99				
TTN	7273	broad.mit.edu	37	2	179495026	179495026	+	Silent	SNP	C	C	T	rs368830196		TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr2:179495026C>T	ENST00000591111.1	-	189	39524	c.39300G>A	c.(39298-39300)acG>acA	p.T13100T	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.T5801T|TTN_ENST00000460472.2_Silent_p.T5676T|TTN_ENST00000342175.6_Silent_p.T5868T|TTN_ENST00000589042.1_Silent_p.T14741T|TTN_ENST00000342992.6_Silent_p.T12173T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13100					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCACCCCACCCGTCTGGTCCA	0.398																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(44221-44223)acG>acA		titin		C	,,,	0,3714		0,0,1857	81.0	86.0	84.0		17028,36519,17403,17604	-12.1	0.1	2		84	1,8165		0,1,4082	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,1,5939	TT,TC,CC		0.0122,0.0,0.0084	,,,	5676/26927,12173/33424,5801/27052,5868/27119	179495026	1,11879	1857	4083	5940	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179495026C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.39300G>A	2.37:g.179495026C>T						TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.T13100T|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.T5801T|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Silent_p.T5676T|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.T12173T|TTN_ENST00000342175.6_Silent_p.T5868T	p.T14741T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		239	44447	-			13100			Fibronectin type-III 6.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.44223G>A																																																																																					0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		33	47	0	0	0	1	0	33	47				
FOCAD	54914	broad.mit.edu	37	9	20866927	20866927	+	Splice_Site	SNP	G	G	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr9:20866927G>A	ENST00000380249.1	+	20	2470		c.e20-1		FOCAD_ENST00000605086.1_Splice_Site|FOCAD_ENST00000338382.6_Splice_Site	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin							focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											ACCCTATCTAGGACCCAATTG	0.363																																						ENST00000380249.1																			0											c.e20-1		focadhesin							85.0	77.0	79.0					9																	20866927		2203	4299	6502	SO:0001630	splice_region_variant	54914					integral to membrane	binding	g.chr9:20866927G>A	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.2107-1G>A	9.37:g.20866927G>A						FOCAD_ENST00000338382.6_Splice_Site|FOCAD_ENST00000605086.1_Splice_Site		NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN			20	2470	+								D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Splice_Site	SNP	ENST00000380249.1	37		CCDS34993.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.674953	0.67928	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6626	0.95878	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA1797	20856927	1.000000	0.71417	0.986000	0.45419	0.764000	0.43329	6.298000	0.72763	2.715000	0.92844	0.549000	0.68633	.		0.363	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794	Intron	14	54	0	0	0	1	0	14	54				
AHNAK2	113146	broad.mit.edu	37	14	105421945	105421945	+	Missense_Mutation	SNP	G	G	A	rs200025024		TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr14:105421945G>A	ENST00000333244.5	-	5	460	c.341C>T	c.(340-342)aCg>aTg	p.T114M	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	114	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.T114M(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGTCTTCAGCGTCACCTCTGT	0.602													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19951	0.0		0.0	False		,,,				2504	0.0					ENST00000333244.5																			1	Substitution - Missense(1)	p.T114M(1)	large_intestine(1)	cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(340-342)aCg>aTg		AHNAK nucleoprotein 2							74.0	81.0	78.0					14																	105421945		2155	4250	6405	SO:0001583	missense	113146					nucleus		g.chr14:105421945G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.341C>T	14.37:g.105421945G>A	ENSP00000353114:p.Thr114Met						p.T114M	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		5	460	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	114			PDZ.		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.341C>T	CCDS45177.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	11.36	1.614704	0.28712	.	.	ENSG00000185567	ENST00000333244	T	0.03065	4.06	4.72	2.9	0.33743	PDZ/DHR/GLGF (2);	0.163218	0.41294	U	0.000903	T	0.10035	0.0246	M	0.72118	2.19	0.23204	N	0.998123	D	0.65815	0.995	P	0.54100	0.742	T	0.05451	-1.0884	10	0.52906	T	0.07	.	9.6648	0.39977	0.1413:0.0:0.8587:0.0	.	114	Q8IVF2	AHNK2_HUMAN	M	114	ENSP00000353114:T114M	ENSP00000353114:T114M	T	-	2	0	AHNAK2	104492990	0.872000	0.30054	0.741000	0.31004	0.872000	0.50106	1.667000	0.37471	0.617000	0.30160	0.650000	0.86243	ACG		0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		4	99	0	0	0	1	0	4	99				
ANKRD6	22881	broad.mit.edu	37	6	90312803	90312803	+	Missense_Mutation	SNP	C	C	T	rs200509240		TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr6:90312803C>T	ENST00000522441.1	+	4	916	c.275C>T	c.(274-276)gCg>gTg	p.A92V	ANKRD6_ENST00000447838.2_Missense_Mutation_p.A92V|ANKRD6_ENST00000520793.1_Missense_Mutation_p.A92V|ANKRD6_ENST00000520886.2_3'UTR|ANKRD6_ENST00000369408.5_Missense_Mutation_p.A92V|ANKRD6_ENST00000485637.1_Missense_Mutation_p.A92V|ANKRD6_ENST00000339746.4_Missense_Mutation_p.A92V	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	92					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		GAGATCATCGCGGCGCTCATC	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		15220	0.001		0.0	False		,,,				2504	0.0					ENST00000369408.5																			0				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21						c.(274-276)gCg>gTg		ankyrin repeat domain 6							40.0	48.0	45.0					6																	90312803		2104	4210	6314	SO:0001583	missense	22881						protein binding	g.chr6:90312803C>T	AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"""Ankyrin repeat domain containing"""	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.275C>T	6.37:g.90312803C>T	ENSP00000430985:p.Ala92Val					ANKRD6_ENST00000485637.1_Missense_Mutation_p.A92V|ANKRD6_ENST00000339746.4_Missense_Mutation_p.A92V|ANKRD6_ENST00000522441.1_Missense_Mutation_p.A92V|ANKRD6_ENST00000447838.2_Missense_Mutation_p.A92V|ANKRD6_ENST00000520886.2_3'UTR|ANKRD6_ENST00000520793.1_Missense_Mutation_p.A92V	p.A92V	NM_001242813.1	NP_001229742.1	Q9Y2G4	ANKR6_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0209)	4	624	+		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)	92					B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Missense_Mutation	SNP	ENST00000522441.1	37	c.275C>T	CCDS56441.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.80	2.046913	0.36085	.	.	ENSG00000135299	ENST00000369408;ENST00000339746;ENST00000447838;ENST00000465722;ENST00000523798;ENST00000522441;ENST00000485637;ENST00000522705;ENST00000520793	T;T;T;T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12	5.93	5.93	0.95920	Ankyrin repeat-containing domain (4);	0.224281	0.31145	N	0.008164	T	0.37999	0.1024	L	0.31578	0.945	0.80722	D	1	P;P;P;P	0.42757	0.742;0.789;0.75;0.484	B;B;B;B	0.30646	0.116;0.118;0.072;0.118	T	0.45527	-0.9255	10	0.48119	T	0.1	-6.2945	20.3539	0.98825	0.0:1.0:0.0:0.0	.	92;92;92;92	B3KUC3;Q9Y2G4;Q9Y2G4-1;C9JJE8	.;ANKR6_HUMAN;.;.	V	92	ENSP00000358416:A92V;ENSP00000345767:A92V;ENSP00000396771:A92V;ENSP00000429431:A92V;ENSP00000428377:A92V;ENSP00000430985:A92V;ENSP00000430954:A92V;ENSP00000428309:A92V;ENSP00000429782:A92V	ENSP00000345767:A92V	A	+	2	0	ANKRD6	90369522	0.757000	0.28394	0.072000	0.20136	0.019000	0.09904	4.777000	0.62361	2.826000	0.97356	0.655000	0.94253	GCG		0.612	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376594.1			9	14	0	0	0	1	0	9	14				
ADARB2	105	broad.mit.edu	37	10	1405926	1405926	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr10:1405926G>A	ENST00000381312.1	-	3	699	c.374C>T	c.(373-375)gCg>gTg	p.A125V	RP11-398B16.2_ENST00000432987.1_RNA	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	125	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GTTCTTGGGCGCCACCGACCA	0.692																																						ENST00000381312.1																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(373-375)gCg>gTg		adenosine deaminase, RNA-specific, B2 (non-functional)							26.0	27.0	26.0					10																	1405926		2203	4298	6501	SO:0001583	missense	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1405926G>A	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.374C>T	10.37:g.1405926G>A	ENSP00000370713:p.Ala125Val						p.A125V	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	3	699	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	125			DRBM 1.		B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	ENST00000381312.1	37	c.374C>T	CCDS7058.1	.	.	.	.	.	.	.	.	.	.	g	16.02	3.005300	0.54254	.	.	ENSG00000185736	ENST00000381312	T	0.23147	1.92	4.82	4.82	0.62117	Double-stranded RNA-binding (1);	0.464205	0.25919	N	0.027444	T	0.15349	0.0370	N	0.08118	0	0.80722	D	1	B	0.30542	0.284	B	0.26969	0.075	T	0.09015	-1.0694	10	0.36615	T	0.2	-13.7546	17.9271	0.88987	0.0:0.0:1.0:0.0	.	125	Q9NS39	RED2_HUMAN	V	125	ENSP00000370713:A125V	ENSP00000370713:A125V	A	-	2	0	ADARB2	1395926	0.999000	0.42202	0.778000	0.31720	0.962000	0.63368	6.627000	0.74258	2.210000	0.71456	0.558000	0.71614	GCG		0.692	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		32	28	0	0	0	1	0	32	28				
ASB4	51666	broad.mit.edu	37	7	95165776	95165776	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr7:95165776A>G	ENST00000325885.5	+	4	1077	c.1006A>G	c.(1006-1008)Aaa>Gaa	p.K336E		NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	336					intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			TTCTTGTCCTAAAGCAATTGA	0.423																																						ENST00000325885.5																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20						c.(1006-1008)Aaa>Gaa		ankyrin repeat and SOCS box containing 4							149.0	113.0	125.0					7																	95165776		2203	4300	6503	SO:0001583	missense	51666				intracellular signal transduction			g.chr7:95165776A>G	AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"""Ankyrin repeat domain containing"""	16009	protein-coding gene	gene with protein product		605761	"""ankyrin repeat and SOCS box-containing 4"""				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.1006A>G	7.37:g.95165776A>G	ENSP00000321388:p.Lys336Glu						p.K336E	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		4	1077	+	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		336					A4D1H6|O14586|Q14D68|Q8TBT2	Missense_Mutation	SNP	ENST00000325885.5	37	c.1006A>G	CCDS5641.1	.	.	.	.	.	.	.	.	.	.	A	5.761	0.324776	0.10900	.	.	ENSG00000005981	ENST00000325885	T	0.40225	1.04	4.95	3.72	0.42706	.	0.673663	0.15376	N	0.265582	T	0.17152	0.0412	N	0.03608	-0.345	0.58432	D	0.999995	B	0.09022	0.002	B	0.09377	0.004	T	0.09952	-1.0651	10	0.02654	T	1	-11.5047	11.1398	0.48396	0.8473:0.1527:0.0:0.0	.	336	Q9Y574	ASB4_HUMAN	E	336	ENSP00000321388:K336E	ENSP00000321388:K336E	K	+	1	0	ASB4	95003712	0.064000	0.20934	0.998000	0.56505	0.981000	0.71138	2.061000	0.41403	2.018000	0.59344	0.529000	0.55759	AAA		0.423	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333225.2	NM_016116		24	61	0	0	0	1	0	24	61				
IL1R1	3554	broad.mit.edu	37	2	102785082	102785082	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr2:102785082T>C	ENST00000410023.1	+	7	998	c.680T>C	c.(679-681)gTg>gCg	p.V227A	IL1R1_ENST00000424272.1_Missense_Mutation_p.V227A|IL1R1_ENST00000233946.3_Missense_Mutation_p.V227A|IL1R1_ENST00000409929.1_Missense_Mutation_p.V227A|IL1R1_ENST00000409288.1_Missense_Mutation_p.V227A|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000409329.1_Missense_Mutation_p.V227A			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	227	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|interleukin-1-mediated signaling pathway (GO:0070498)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)|platelet-derived growth factor receptor binding (GO:0005161)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	ACAAGGCCTGTGATTGTGAGC	0.398																																						ENST00000410023.1																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19						c.(679-681)gTg>gCg		interleukin 1 receptor, type I	Anakinra(DB00026)						144.0	152.0	149.0					2																	102785082		2203	4300	6503	SO:0001583	missense	3554				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding	g.chr2:102785082T>C	M27492	CCDS2055.1, CCDS74547.1	2q12	2013-01-29			ENSG00000115594	ENSG00000115594		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5993	protein-coding gene	gene with protein product		147810		IL1R, IL1RA		1833184, 10191101	Standard	XM_005263929		Approved	D2S1473, CD121A	uc002tbr.3	P14778	OTTHUMG00000130783	ENST00000410023.1:c.680T>C	2.37:g.102785082T>C	ENSP00000386380:p.Val227Ala					IL1R1_ENST00000409288.1_Missense_Mutation_p.V227A|IL1R1_ENST00000233946.3_Missense_Mutation_p.V227A|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000409329.1_Missense_Mutation_p.V227A|IL1R1_ENST00000424272.1_Missense_Mutation_p.V227A|IL1R1_ENST00000409929.1_Missense_Mutation_p.V227A	p.V227A			P14778	IL1R1_HUMAN			7	998	+			227			Ig-like C2-type 3.		Q587I7	Missense_Mutation	SNP	ENST00000410023.1	37	c.680T>C	CCDS2055.1	.	.	.	.	.	.	.	.	.	.	T	5.415	0.261708	0.10239	.	.	ENSG00000115594	ENST00000409929;ENST00000424272;ENST00000409329;ENST00000428279;ENST00000409288;ENST00000410023;ENST00000233946	T;T;T;T;T;T;T	0.03663	3.85;3.85;3.85;3.85;3.85;3.85;3.85	5.26	1.23	0.21249	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.928503	0.09169	N	0.839153	T	0.04092	0.0114	L	0.47716	1.5	0.27560	N	0.95022	B;P;P	0.39737	0.226;0.607;0.685	B;B;B	0.38842	0.177;0.262;0.283	T	0.34950	-0.9808	10	0.10111	T	0.7	.	9.0104	0.36137	0.5906:0.0:0.0:0.4094	.	227;227;227	B8ZZW4;P14778;B8ZZ73	.;IL1R1_HUMAN;.	A	227;227;227;83;227;227;227	ENSP00000386776:V227A;ENSP00000415366:V227A;ENSP00000387131:V227A;ENSP00000410461:V83A;ENSP00000386478:V227A;ENSP00000386380:V227A;ENSP00000233946:V227A	ENSP00000233946:V227A	V	+	2	0	IL1R1	102151514	0.894000	0.30519	0.913000	0.36048	0.115000	0.19883	0.664000	0.25068	0.479000	0.27511	0.533000	0.62120	GTG		0.398	IL1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253299.1			12	138	0	0	0	1	0	12	138				
VWA1	64856	broad.mit.edu	37	1	1374627	1374627	+	Silent	SNP	G	G	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:1374627G>A	ENST00000476993.1	+	3	876	c.798G>A	c.(796-798)acG>acA	p.T266T	VWA1_ENST00000338660.5_3'UTR|VWA1_ENST00000404702.3_Silent_p.T54T	NM_022834.4	NP_073745.2	Q6PCB0	VWA1_HUMAN	von Willebrand factor A domain containing 1	266	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				behavioral response to pain (GO:0048266)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interstitial matrix (GO:0005614)				NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	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)		GGAACGCCACGGACTGGATCT	0.697																																						ENST00000476993.1																			0				NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(796-798)acG>acA		von Willebrand factor A domain containing 1							11.0	13.0	12.0					1																	1374627		2135	4216	6351	SO:0001819	synonymous_variant	64856					basement membrane		g.chr1:1374627G>A	BC059409	CCDS27.1, CCDS28.1, CCDS28.2	1p36.33	2013-02-11			ENSG00000179403	ENSG00000179403		"""Fibronectin type III domain containing"""	30910	protein-coding gene	gene with protein product		611901				14527666, 12062410	Standard	NM_022834		Approved	FLJ22215, VWA-1, WARP	uc001afs.3	Q6PCB0	OTTHUMG00000002975	ENST00000476993.1:c.798G>A	1.37:g.1374627G>A						VWA1_ENST00000404702.3_Silent_p.T54T|VWA1_ENST00000338660.5_3'UTR	p.T266T	NM_022834.4	NP_073745.2	Q6PCB0	VWA1_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	876	+	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)	266			Fibronectin type-III 1.		A8K692|B3KUA1|E9PB53|Q7L5D7|Q9H6J5	Silent	SNP	ENST00000476993.1	37	c.798G>A	CCDS27.1																																																																																				0.697	VWA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008291.1	NM_022834		10	14	0	0	0	1	0	10	14				
DENND4B	9909	broad.mit.edu	37	1	153907309	153907309	+	Silent	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642																																						ENST00000361217.4																			2	Substitution - coding silent(2)	p.Q788Q(1)|p.Q900Q(1)	lung(2)	NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(2698-2700)caG>caA		DENN/MADD domain containing 4B							33.0	42.0	39.0					1																	153907309		2187	4283	6470	SO:0001819	synonymous_variant	9909							g.chr1:153907309C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2700G>A	1.37:g.153907309C>T							p.Q900Q	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		18	3118	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		900			Gln-rich.		Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.2700G>A	CCDS44228.1																																																																																				0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		4	81	0	0	0	1	0	4	81				
OTUD4	54726	broad.mit.edu	37	4	146059006	146059006	+	Missense_Mutation	SNP	G	G	A	rs558808115		TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr4:146059006G>A	ENST00000447906.2	-	21	3108	c.2921C>T	c.(2920-2922)aCt>aTt	p.T974I	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000454497.2_Missense_Mutation_p.T909I			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	974					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AACAGGCACAGTTTCTCTCTC	0.463																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2725-2727)aCt>aTt		OTU domain containing 4							128.0	133.0	131.0					4																	146059006		2203	4300	6503	SO:0001583	missense	54726						protein binding	g.chr4:146059006G>A		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2921C>T	4.37:g.146059006G>A	ENSP00000395487:p.Thr974Ile					OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I|OTUD4_ENST00000455611.2_Intron	p.T909I	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			21	2863	-	all_hematologic(180;0.151)		973					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37	c.2726C>T		.	.	.	.	.	.	.	.	.	.	G	13.28	2.191504	0.38707	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.34275	1.37;1.37	6.17	5.33	0.75918	.	1.059000	0.07258	N	0.867023	T	0.32793	0.0841	N	0.24115	0.695	0.80722	D	1	B;B	0.13145	0.007;0.004	B;B	0.14023	0.01;0.004	T	0.02275	-1.1184	10	0.59425	D	0.04	-0.3286	15.5098	0.75772	0.0658:0.0:0.9342:0.0	.	974;973	G3V0I6;Q01804	.;OTUD4_HUMAN	I	909;974	ENSP00000409279:T909I;ENSP00000395487:T974I	ENSP00000395487:T974I	T	-	2	0	OTUD4	146278456	0.027000	0.19231	0.108000	0.21378	0.880000	0.50808	2.210000	0.42816	1.621000	0.50320	0.655000	0.94253	ACT		0.463	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		5	184	0	0	0	1	0	5	184				
DAPK3	1613	broad.mit.edu	37	19	3964267	3964267	+	Missense_Mutation	SNP	G	G	C	rs202200405		TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr19:3964267G>C	ENST00000545797.2	-	4	771	c.528C>G	c.(526-528)aaC>aaG	p.N176K	DAPK3_ENST00000301264.3_Missense_Mutation_p.N176K|MIR637_ENST00000385000.1_RNA			O43293	DAPK3_HUMAN	death-associated protein kinase 3	176	Activation segment. {ECO:0000250|UniProtKB:O96017}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|chromatin modification (GO:0016568)|cytokinesis (GO:0000910)|intracellular signal transduction (GO:0035556)|negative regulation of translation (GO:0017148)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of cell motility (GO:2000145)|regulation of focal adhesion assembly (GO:0051893)|regulation of mitosis (GO:0007088)|regulation of mitotic cell cycle (GO:0007346)|regulation of smooth muscle contraction (GO:0006940)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|leucine zipper domain binding (GO:0043522)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCGAAGATGTTCTTGAACT	0.627																																						ENST00000545797.2																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21						c.(526-528)aaC>aaG		death-associated protein kinase 3							156.0	107.0	124.0					19																	3964267		2203	4300	6503	SO:0001583	missense	1613				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity	g.chr19:3964267G>C	AB007144	CCDS12116.1	19p13.3	2008-02-05				ENSG00000167657			2676	protein-coding gene	gene with protein product		603289				9488481	Standard	XM_005259508		Approved	ZIP, ZIPK	uc002lzc.1	O43293		ENST00000545797.2:c.528C>G	19.37:g.3964267G>C	ENSP00000442973:p.Asn176Lys					DAPK3_ENST00000301264.3_Missense_Mutation_p.N176K	p.N176K			O43293	DAPK3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	4	771	-		Hepatocellular(1079;0.137)	176			Protein kinase.		A0AVN4|B3KQE2|Q05JY4	Missense_Mutation	SNP	ENST00000545797.2	37	c.528C>G	CCDS12116.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.377454	0.42105	.	.	ENSG00000167657	ENST00000301264;ENST00000545797;ENST00000442766	T;T	0.64438	-0.1;-0.1	5.48	5.48	0.80851	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.57446	0.2054	N	0.13235	0.315	0.52501	D	0.999957	D	0.58620	0.983	P	0.57911	0.829	T	0.59773	-0.7391	10	0.48119	T	0.1	.	9.9989	0.41916	0.1552:0.0:0.8448:0.0	.	176	O43293	DAPK3_HUMAN	K	176;176;31	ENSP00000301264:N176K;ENSP00000442973:N176K	ENSP00000301264:N176K	N	-	3	2	DAPK3	3915267	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	1.830000	0.39131	2.577000	0.86979	0.555000	0.69702	AAC		0.627	DAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457817.2	NM_001348		15	47	0	0	0	1	0	15	47				
CSF2RA	1438	broad.mit.edu	37	X	1404769	1404769	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chrX:1404769A>G	ENST00000381524.3	+	4	361	c.175A>G	c.(175-177)Aag>Gag	p.K59E	CSF2RA_ENST00000501036.2_Intron|CSF2RA_ENST00000417535.2_Missense_Mutation_p.K59E|CSF2RA_ENST00000432318.2_Missense_Mutation_p.K59E|CSF2RA_ENST00000361536.3_Missense_Mutation_p.K59E|CSF2RA_ENST00000381509.3_Missense_Mutation_p.K59E|CSF2RA_ENST00000355805.2_Missense_Mutation_p.K59E|CSF2RA_ENST00000381500.1_Missense_Mutation_p.K59E|CSF2RA_ENST00000355432.3_Missense_Mutation_p.K59E|CSF2RA_ENST00000494969.2_Missense_Mutation_p.K59E|CSF2RA_ENST00000381529.3_Missense_Mutation_p.K59E			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	59					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	AACCTTCAGCAAGTGTTTCTT	0.473																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	ENST00000381524.3																			0				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45						c.(175-177)Aag>Gag		colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)						205.0	206.0	206.0					X																	1404769		2203	4296	6499	SO:0001583	missense	0					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1404769A>G	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.175A>G	X.37:g.1404769A>G	ENSP00000370935:p.Lys59Glu					CSF2RA_ENST00000381509.3_Missense_Mutation_p.K59E|CSF2RA_ENST00000501036.2_Intron|CSF2RA_ENST00000381529.3_Missense_Mutation_p.K59E|CSF2RA_ENST00000355805.2_Missense_Mutation_p.K59E|CSF2RA_ENST00000381500.1_Missense_Mutation_p.K59E|CSF2RA_ENST00000432318.2_Missense_Mutation_p.K59E|CSF2RA_ENST00000361536.3_Missense_Mutation_p.K59E|CSF2RA_ENST00000355432.3_Missense_Mutation_p.K59E|CSF2RA_ENST00000417535.2_Missense_Mutation_p.K59E	p.K59E			P15509	CSF2R_HUMAN			4	361	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	59					A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	ENST00000381524.3	37	c.175A>G	CCDS35191.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.496397	0.00159	.	.	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000361536;ENST00000381507;ENST00000381524;ENST00000412290;ENST00000419094;ENST00000381509;ENST00000355805;ENST00000355432;ENST00000417535;ENST00000381500	D;D;D;D;T;T;D;T;T;D;D	0.93953	-3.04;-3.04;-3.32;-3.04;0.92;1.91;-3.07;0.9;1.19;-2.89;-3.32	0.725	-1.45	0.08828	.	.	.	.	.	D	0.83524	0.5273	.	.	.	0.09310	N	1	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.06405	0.002;0.001;0.001;0.001;0.001;0.0	T	0.64892	-0.6300	7	0.22706	T	0.39	.	.	.	.	.	59;59;59;59;59;59	P15509-2;A7J003;P15509-3;P15509-6;P15509-5;P15509	.;.;.;.;.;CSF2R_HUMAN	E	59	ENSP00000370940:K59E;ENSP00000416437:K59E;ENSP00000354836:K59E;ENSP00000370935:K59E;ENSP00000410667:K59E;ENSP00000397452:K59E;ENSP00000370920:K59E;ENSP00000348058:K59E;ENSP00000347606:K59E;ENSP00000394227:K59E;ENSP00000370911:K59E	ENSP00000347606:K59E	K	+	1	0	CSF2RA	1364769	0.000000	0.05858	0.000000	0.03702	0.087000	0.18053	-1.152000	0.03172	-1.778000	0.01282	0.046000	0.15203	AAG		0.473	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			61	170	0	0	0	1	0	61	170				
LAMC2	3918	broad.mit.edu	37	1	183201918	183201918	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:183201918G>C	ENST00000264144.4	+	14	2211	c.2146G>C	c.(2146-2148)Gtt>Ctt	p.V716L	LAMC2_ENST00000493293.1_Missense_Mutation_p.V716L	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	716	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CCAGAACCGAGTTCGGGATAC	0.522																																						ENST00000264144.4																			0				breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(2146-2148)Gtt>Ctt		laminin, gamma 2							100.0	103.0	102.0					1																	183201918		2203	4300	6503	SO:0001583	missense	3918				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	g.chr1:183201918G>C	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.2146G>C	1.37:g.183201918G>C	ENSP00000264144:p.Val716Leu					LAMC2_ENST00000493293.1_Missense_Mutation_p.V716L	p.V716L	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN			14	2211	+			716			Domain II and I.		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	37	c.2146G>C	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	G	9.446	1.089327	0.20390	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	T;T	0.16324	2.5;2.35	5.55	3.68	0.42216	.	0.604873	0.16235	N	0.223401	T	0.12987	0.0315	L	0.41824	1.3	0.09310	N	0.999999	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.13407	0.004;0.004;0.009	T	0.29610	-1.0006	10	0.12766	T	0.61	.	9.6959	0.40156	0.1584:0.0:0.8416:0.0	.	716;716;716	Q2M1N2;Q13753;Q13753-2	.;LAMC2_HUMAN;.	L	716	ENSP00000432063:V716L;ENSP00000264144:V716L	ENSP00000264144:V716L	V	+	1	0	LAMC2	181468541	1.000000	0.71417	0.081000	0.20488	0.428000	0.31595	2.364000	0.44187	1.331000	0.45412	0.650000	0.86243	GTT		0.522	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		52	100	0	0	0	1	0	52	100				
ATAD2	29028	broad.mit.edu	37	8	124359562	124359562	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr8:124359562G>C	ENST00000287394.5	-	16	2089	c.1982C>G	c.(1981-1983)aCt>aGt	p.T661S	MIR548AA1_ENST00000384971.2_RNA|ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	661					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TTTCTCACTAGTGGTATAGAT	0.423																																						ENST00000287394.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48						c.(1981-1983)aCt>aGt		ATPase family, AAA domain containing 2							98.0	93.0	95.0					8																	124359562		2203	4300	6503	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124359562G>C	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.1982C>G	8.37:g.124359562G>C	ENSP00000287394:p.Thr661Ser					ATAD2_ENST00000521903.1_5'UTR	p.T661S	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		16	2089	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		661					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.1982C>G	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	G	5.428	0.264136	0.10294	.	.	ENSG00000156802	ENST00000287394	D	0.94576	-3.46	4.96	4.01	0.46588	.	0.201920	0.41001	D	0.000972	T	0.80681	0.4669	N	0.01297	-0.9	0.80722	D	1	B	0.12630	0.006	B	0.09377	0.004	T	0.78018	-0.2368	10	0.02654	T	1	-19.5581	13.8557	0.63524	0.0:0.2505:0.7495:0.0	.	661	Q6PL18	ATAD2_HUMAN	S	661	ENSP00000287394:T661S	ENSP00000287394:T661S	T	-	2	0	ATAD2	124428743	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	5.989000	0.70587	2.442000	0.82660	0.591000	0.81541	ACT		0.423	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		29	95	0	0	0	1	0	29	95				
JAK1	3716	broad.mit.edu	37	1	65323387	65323387	+	Silent	SNP	G	G	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:65323387G>A	ENST00000342505.4	-	10	1658	c.1410C>T	c.(1408-1410)acC>acT	p.T470T		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	470	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TGTCAAAGTCGGTGCAGCTCC	0.527			Mis		ALL																																	ENST00000342505.4				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(1408-1410)acC>acT		Janus kinase 1							118.0	122.0	120.0					1																	65323387		2117	4232	6349	SO:0001819	synonymous_variant	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65323387G>A	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.1410C>T	1.37:g.65323387G>A							p.T470T	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	10	1658	-			470			SH2.		Q59GQ2|Q9UD26	Silent	SNP	ENST00000342505.4	37	c.1410C>T	CCDS41346.1																																																																																				0.527	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		3	69	0	0	0	1	0	3	69				
CHD7	55636	broad.mit.edu	37	8	61654055	61654055	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr8:61654055G>C	ENST00000423902.2	+	2	543	c.64G>C	c.(64-66)Gaa>Caa	p.E22Q	CHD7_ENST00000524602.1_Missense_Mutation_p.E22Q|CHD7_ENST00000525508.1_Missense_Mutation_p.E22Q	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	22					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TGAAGGTCTTGAAGGCCTCGG	0.478																																						ENST00000423902.2																			0				NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.(64-66)Gaa>Caa		chromodomain helicase DNA binding protein 7							110.0	103.0	105.0					8																	61654055		1914	4133	6047	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61654055G>C	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.64G>C	8.37:g.61654055G>C	ENSP00000392028:p.Glu22Gln					CHD7_ENST00000525508.1_Missense_Mutation_p.E22Q|CHD7_ENST00000524602.1_Missense_Mutation_p.E22Q	p.E22Q	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		2	543	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	22					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.64G>C	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867923	0.51588	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000526846;ENST00000524602;ENST00000525508	T;T;T;T	0.68479	-0.33;0.57;-0.33;-0.33	5.19	5.19	0.71726	.	0.000000	0.40908	D	0.000992	T	0.77785	0.4182	L	0.50333	1.59	0.46096	D	0.998868	D	0.63880	0.993	D	0.70227	0.968	T	0.79713	-0.1688	10	0.72032	D	0.01	-17.3043	16.8911	0.86087	0.0:0.0:1.0:0.0	.	22	Q9P2D1	CHD7_HUMAN	Q	22	ENSP00000392028:E22Q;ENSP00000436492:E22Q;ENSP00000437061:E22Q;ENSP00000436027:E22Q	ENSP00000307304:E22Q	E	+	1	0	CHD7	61816609	1.000000	0.71417	0.990000	0.47175	0.988000	0.76386	8.195000	0.89723	2.431000	0.82371	0.585000	0.79938	GAA		0.478	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		11	11	0	0	0	1	0	11	11				
FAM83B	222584	broad.mit.edu	37	6	54806708	54806708	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr6:54806708A>G	ENST00000306858.7	+	5	3055	c.2939A>G	c.(2938-2940)aAt>aGt	p.N980S	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	980										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CCATTGCTTAATTACAACACT	0.368																																						ENST00000306858.7																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71						c.(2938-2940)aAt>aGt		family with sequence similarity 83, member B							61.0	60.0	60.0					6																	54806708		2203	4300	6503	SO:0001583	missense	222584							g.chr6:54806708A>G	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.2939A>G	6.37:g.54806708A>G	ENSP00000304078:p.Asn980Ser						p.N980S	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN			5	3055	+	Lung NSC(77;0.0178)|Renal(3;0.122)		980					Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.2939A>G	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	A	9.032	0.987424	0.18889	.	.	ENSG00000168143	ENST00000306858	T	0.38401	1.14	5.76	3.24	0.37175	.	0.298961	0.32769	N	0.005664	T	0.07593	0.0191	L	0.36672	1.1	0.28015	N	0.934753	B	0.10296	0.003	B	0.11329	0.006	T	0.34229	-0.9837	10	0.07482	T	0.82	-14.8416	5.616	0.17432	0.5801:0.2853:0.1346:0.0	.	980	Q5T0W9	FA83B_HUMAN	S	980	ENSP00000304078:N980S	ENSP00000304078:N980S	N	+	2	0	FAM83B	54914667	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.051000	0.30417	0.985000	0.38656	0.533000	0.62120	AAT		0.368	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		6	70	0	0	0	1	0	6	70				
KLHL38	340359	broad.mit.edu	37	8	124664240	124664240	+	Silent	SNP	G	G	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr8:124664240G>A	ENST00000325995.7	-	1	950	c.927C>T	c.(925-927)acC>acT	p.T309T	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	309										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						GCCATTGGCCGGTCTGTTTGC	0.572																																						ENST00000325995.7																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						c.(925-927)acC>acT		kelch-like family member 38							82.0	87.0	85.0					8																	124664240		2024	4185	6209	SO:0001819	synonymous_variant	340359							g.chr8:124664240G>A		CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.927C>T	8.37:g.124664240G>A						CTD-2552K11.2_ENST00000524355.1_RNA	p.T309T	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN			1	950	-			309					A0PK12	Silent	SNP	ENST00000325995.7	37	c.927C>T	CCDS43766.1																																																																																				0.572	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1			4	107	0	0	0	1	0	4	107				
GRWD1	83743	broad.mit.edu	37	19	48953672	48953672	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr19:48953672C>G	ENST00000253237.5	+	4	804	c.571C>G	c.(571-573)Cag>Gag	p.Q191E		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	191						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		GGAGGAGCCCCAGGCCCTGGC	0.647																																						ENST00000253237.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19						c.(571-573)Cag>Gag		glutamate-rich WD repeat containing 1							67.0	72.0	70.0					19																	48953672		2203	4300	6503	SO:0001583	missense	83743					nucleolus		g.chr19:48953672C>G	AF337808	CCDS12720.1	19q13.33	2013-05-21				ENSG00000105447		"""WD repeat domain containing"""	21270	protein-coding gene	gene with protein product	regulator of ribosome biogenesis 1 homolog (S. cerevisiae)	610597				15885502	Standard	NM_031485		Approved	WDR28, GRWD, RRB1	uc002pjd.2	Q9BQ67		ENST00000253237.5:c.571C>G	19.37:g.48953672C>G	ENSP00000253237:p.Gln191Glu						p.Q191E	NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)	4	804	+		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)	191					Q8TF59	Missense_Mutation	SNP	ENST00000253237.5	37	c.571C>G	CCDS12720.1	.	.	.	.	.	.	.	.	.	.	C	4.601	0.111601	0.08831	.	.	ENSG00000105447	ENST00000253237	T	0.65364	-0.15	3.69	3.69	0.42338	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.372666	0.27768	N	0.017929	T	0.49864	0.1582	L	0.35288	1.05	0.41802	D	0.989929	B	0.13145	0.007	B	0.12837	0.008	T	0.46020	-0.9221	10	0.23302	T	0.38	-25.2531	14.7057	0.69189	0.0:1.0:0.0:0.0	.	191	Q9BQ67	GRWD1_HUMAN	E	191	ENSP00000253237:Q191E	ENSP00000253237:Q191E	Q	+	1	0	GRWD1	53645484	0.990000	0.36364	0.990000	0.47175	0.993000	0.82548	2.468000	0.45102	2.071000	0.62044	0.561000	0.74099	CAG		0.647	GRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466122.1	NM_031485		24	73	0	0	0	1	0	24	73				
AFM	173	broad.mit.edu	37	4	74361141	74361141	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr4:74361141C>T	ENST00000226355.3	+	9	1276	c.1183C>T	c.(1183-1185)Cgt>Tgt	p.R395C		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	395	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.		R -> H (in dbSNP:rs41265665).		vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGGTTGTTACCGTTACGCGGT	0.388																																						ENST00000226355.3																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(1183-1185)Cgt>Tgt		afamin							65.0	72.0	70.0					4																	74361141		2202	4300	6502	SO:0001583	missense	173				vitamin transport		vitamin E binding	g.chr4:74361141C>T	L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.1183C>T	4.37:g.74361141C>T	ENSP00000226355:p.Arg395Cys						p.R395C	NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		9	1276	+	Breast(15;0.00102)		395		R -> H (in dbSNP:rs41265665).	Albumin 2.		A8K3E1|Q32MR3|Q4W5C5	Missense_Mutation	SNP	ENST00000226355.3	37	c.1183C>T	CCDS3557.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.699087	0.48307	.	.	ENSG00000079557	ENST00000226355	T	0.74209	-0.82	4.01	-3.8	0.04307	Serum albumin, conserved site (1);Serum albumin-like (1);Serum albumin, N-terminal (2);	0.889220	0.09793	N	0.755068	T	0.69513	0.3119	L	0.57536	1.79	0.09310	N	0.999999	D	0.69078	0.997	P	0.50490	0.642	T	0.61327	-0.7085	10	0.62326	D	0.03	.	2.7989	0.05409	0.3752:0.188:0.3452:0.0917	.	395	P43652	AFAM_HUMAN	C	395	ENSP00000226355:R395C	ENSP00000226355:R395C	R	+	1	0	AFM	74580005	0.000000	0.05858	0.003000	0.11579	0.295000	0.27426	-2.311000	0.01128	-0.836000	0.04229	0.650000	0.86243	CGT		0.388	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2			4	67	0	0	0	1	0	4	67				
TRIM51HP	440041	broad.mit.edu	37	11	55065705	55065705	+	RNA	SNP	G	G	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr11:55065705G>A	ENST00000526016.1	-	0	3					NR_038174.2				tripartite motif-containing 51H, pseudogene																		GATGGGACAGGTGAGTTCCCT	0.483																																						ENST00000526016.1																			0																																																			0							g.chr11:55065705G>A			11q11	2012-11-02			ENSG00000166007	ENSG00000166007		"""Triparite motif-containing / Pseudogenes"""	43977	pseudogene	pseudogene							Standard	NR_038174		Approved		uc021qjb.1		OTTHUMG00000166775		11.37:g.55065705G>A								NR_038174.2						0	3	-									RNA	SNP	ENST00000526016.1	37																																																																																						0.483	TRIM51HP-002	PUTATIVE	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000391438.1			5	77	0	0	0	1	0	5	77				
CCNE2	9134	broad.mit.edu	37	8	95906307	95906307	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr8:95906307T>C	ENST00000520509.1	-	3	307	c.55A>G	c.(55-57)Acg>Gcg	p.T19A	NDUFAF6_ENST00000396113.1_5'Flank|CCNE2_ENST00000308108.4_Missense_Mutation_p.T19A|CCNE2_ENST00000396133.3_Missense_Mutation_p.T19A|CCNE2_ENST00000523476.1_5'Flank			O96020	CCNE2_HUMAN	cyclin E2	19					cell cycle checkpoint (GO:0000075)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					GGGGATTCCGTCTGGCTGGGC	0.453																																						ENST00000520509.1																			0				cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11						c.(55-57)Acg>Gcg		cyclin E2							139.0	159.0	152.0					8																	95906307		2203	4300	6503	SO:0001583	missense	9134				cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding	g.chr8:95906307T>C	AF091433	CCDS6264.1	8q22.1	2005-10-18			ENSG00000175305	ENSG00000175305			1590	protein-coding gene	gene with protein product		603775				9840927, 9840943	Standard	NM_057749		Approved	CYCE2	uc003yhc.3	O96020	OTTHUMG00000164696	ENST00000520509.1:c.55A>G	8.37:g.95906307T>C	ENSP00000429089:p.Thr19Ala					CCNE2_ENST00000308108.4_Missense_Mutation_p.T19A|CCNE2_ENST00000396133.3_Missense_Mutation_p.T19A	p.T19A			O96020	CCNE2_HUMAN			3	307	-	Breast(36;8.75e-07)		19					O95439	Missense_Mutation	SNP	ENST00000520509.1	37	c.55A>G	CCDS6264.1	.	.	.	.	.	.	.	.	.	.	T	7.321	0.616987	0.14129	.	.	ENSG00000175305	ENST00000520509;ENST00000308108;ENST00000396133	T;T;T	0.29917	1.97;1.97;1.55	5.15	-1.89	0.07689	.	1.189420	0.05778	N	0.608112	T	0.16257	0.0391	L	0.27053	0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.23048	-1.0199	10	0.09084	T	0.74	.	3.4175	0.07381	0.1368:0.1335:0.5361:0.1936	.	19;19	Q8WUE3;O96020	.;CCNE2_HUMAN	A	19	ENSP00000429089:T19A;ENSP00000309181:T19A;ENSP00000379437:T19A	ENSP00000309181:T19A	T	-	1	0	CCNE2	95975483	0.530000	0.26330	0.734000	0.30879	0.760000	0.43138	0.010000	0.13242	-0.329000	0.08527	0.459000	0.35465	ACG		0.453	CCNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379808.1	NM_057749, NM_004702		9	173	0	0	0	1	0	9	173				
PAFAH1B1	5048	broad.mit.edu	37	17	2576020	2576020	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr17:2576020A>G	ENST00000397195.5	+	7	1091	c.640A>G	c.(640-642)Aaa>Gaa	p.K214E	PAFAH1B1_ENST00000451360.2_Missense_Mutation_p.K43E|PAFAH1B1_ENST00000572915.2_3'UTR	NM_000430.3	NP_000421.1			platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)											endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						CTCAAGGGATAAAACTATAAA	0.433																																						ENST00000397195.5																			0				endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						c.(640-642)Aaa>Gaa		platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)							105.0	96.0	99.0					17																	2576020		2203	4300	6503	SO:0001583	missense	5048				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity	g.chr17:2576020A>G	L25107	CCDS32528.1	17p13.3	2014-04-04	2010-02-10		ENSG00000007168	ENSG00000007168		"""WD repeat domain containing"""	8574	protein-coding gene	gene with protein product	"""lissencephaly-1"""	601545	"""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)"", ""Miller-Dieker syndrome chromosome region"", ""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa"", ""platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)"""	MDCR, MDS		8355785, 9063735	Standard	NM_000430		Approved	LIS1, PAFAH	uc002fuw.4	P43034	OTTHUMG00000177574	ENST00000397195.5:c.640A>G	17.37:g.2576020A>G	ENSP00000380378:p.Lys214Glu					PAFAH1B1_ENST00000397193.3_3'UTR|PAFAH1B1_ENST00000451360.2_Missense_Mutation_p.K43E	p.K214E	NM_000430.3	NP_000421.1	P43034	LIS1_HUMAN			7	1091	+			214			Interaction with dynein and dynactin.			Missense_Mutation	SNP	ENST00000397195.5	37	c.640A>G	CCDS32528.1	.	.	.	.	.	.	.	.	.	.	A	17.54	3.414362	0.62511	.	.	ENSG00000007168	ENST00000397195;ENST00000397193;ENST00000451360	T;T	0.62364	0.03;0.03	4.92	4.92	0.64577	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.042391	0.85682	D	0.000000	T	0.61813	0.2377	L	0.61218	1.895	0.80722	D	1	B;B	0.18968	0.014;0.032	B;B	0.26770	0.073;0.042	T	0.62286	-0.6886	10	0.54805	T	0.06	.	14.0218	0.64560	1.0:0.0:0.0:0.0	.	43;214	B4DF38;P43034	.;LIS1_HUMAN	E	214;43;43	ENSP00000380378:K214E;ENSP00000395628:K43E	ENSP00000380377:K43E	K	+	1	0	PAFAH1B1	2522770	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.135000	0.94478	1.953000	0.56701	0.460000	0.39030	AAA		0.433	PAFAH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437797.2	NM_000430		22	40	0	0	0	1	0	22	40				
LRRC8D	55144	broad.mit.edu	37	1	90401127	90401127	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:90401127C>G	ENST00000337338.5	+	3	2907	c.2500C>G	c.(2500-2502)Ctt>Gtt	p.L834V	LRRC8D_ENST00000394593.3_Missense_Mutation_p.L834V	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	834					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		GGAAGATCACCTTTTTGATAC	0.478																																						ENST00000337338.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29						c.(2500-2502)Ctt>Gtt		leucine rich repeat containing 8 family, member D							59.0	57.0	58.0					1																	90401127		2203	4300	6503	SO:0001583	missense	55144					integral to membrane	protein binding	g.chr1:90401127C>G	AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"""leucine rich repeat containing 5"""	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.2500C>G	1.37:g.90401127C>G	ENSP00000338887:p.Leu834Val					LRRC8D_ENST00000394593.3_Missense_Mutation_p.L834V	p.L834V	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN		all cancers(265;0.0109)|Epithelial(280;0.0427)	3	2907	+		all_lung(203;0.0894)|Lung NSC(277;0.227)	834					D3DT29|Q6UWB2|Q9NVW3	Missense_Mutation	SNP	ENST00000337338.5	37	c.2500C>G	CCDS726.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.407422	0.62399	.	.	ENSG00000171492	ENST00000337338;ENST00000394593	T;T	0.36878	1.23;1.23	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.44787	0.1310	M	0.62266	1.93	0.80722	D	1	P	0.51653	0.947	P	0.54100	0.742	T	0.09952	-1.0651	9	.	.	.	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	834	Q7L1W4	LRC8D_HUMAN	V	834	ENSP00000338887:L834V;ENSP00000378093:L834V	.	L	+	1	0	LRRC8D	90173715	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.656000	0.67988	2.885000	0.99019	0.655000	0.94253	CTT		0.478	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	NM_018103		51	65	0	0	0	1	0	51	65				
SLC9B2	133308	broad.mit.edu	37	4	103970144	103970144	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr4:103970144G>C	ENST00000394785.3	-	6	1250	c.619C>G	c.(619-621)Ctg>Gtg	p.L207V	SLC9B2_ENST00000503103.1_Missense_Mutation_p.L150V|SLC9B2_ENST00000362026.3_Missense_Mutation_p.L207V|SLC9B2_ENST00000339611.4_Missense_Mutation_p.L207V|SLC9B2_ENST00000503230.1_Missense_Mutation_p.L150V	NM_178833.4	NP_849155.2	Q86UD5	SL9B2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	207					ion transmembrane transport (GO:0034220)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	solute:proton antiporter activity (GO:0015299)										CCCATGGACAGTCTTACACAA	0.453																																						ENST00000394785.3																			0											c.(619-621)Ctg>Gtg		solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2							111.0	96.0	101.0					4																	103970144		2203	4300	6503	SO:0001583	missense	133308				sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity	g.chr4:103970144G>C	AK172823	CCDS3662.1, CCDS75173.1, CCDS75174.1	4q24	2013-05-22	2012-03-22	2011-08-03	ENSG00000164038	ENSG00000164038		"""Solute carriers"""	25143	protein-coding gene	gene with protein product		611789	"""Na+/H+ exchanger domain containing 2"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 2"""	NHEDC2		18600791	Standard	XM_005262758		Approved	FLJ23984, NHA2	uc003hwy.3	Q86UD5	OTTHUMG00000131125	ENST00000394785.3:c.619C>G	4.37:g.103970144G>C	ENSP00000378265:p.Leu207Val					SLC9B2_ENST00000503103.1_Missense_Mutation_p.L150V|SLC9B2_ENST00000339611.4_Missense_Mutation_p.L207V|SLC9B2_ENST00000362026.3_Missense_Mutation_p.L207V|SLC9B2_ENST00000503230.1_Missense_Mutation_p.L150V	p.L207V	NM_178833.4	NP_849155.2	Q86UD5	NHDC2_HUMAN			6	1250	-			207					B5ME52|Q6ZMD8|Q96D95	Missense_Mutation	SNP	ENST00000394785.3	37	c.619C>G	CCDS3662.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.674391	0.47781	.	.	ENSG00000164038	ENST00000362026;ENST00000506288;ENST00000339611;ENST00000394785;ENST00000503103;ENST00000503230	T;T;T;T;T;T	0.15718	2.4;2.4;2.4;2.4;2.4;2.4	5.57	2.17	0.27698	.	0.086147	0.46442	D	0.000282	T	0.35393	0.0930	M	0.73319	2.225	0.41567	D	0.988669	P;P;D;P	0.62365	0.905;0.867;0.991;0.619	B;P;D;B	0.63877	0.416;0.874;0.919;0.172	T	0.16808	-1.0390	10	0.54805	T	0.06	-11.2844	11.9732	0.53075	0.2253:0.0:0.7747:0.0	.	150;150;207;207	B7Z676;E9PE63;Q86UD5-2;Q86UD5	.;.;.;SL9B2_HUMAN	V	207;107;207;207;150;150	ENSP00000354574:L207V;ENSP00000421943:L107V;ENSP00000345241:L207V;ENSP00000378265:L207V;ENSP00000425385:L150V;ENSP00000422477:L150V	ENSP00000345241:L207V	L	-	1	2	SLC9B2	104189593	0.993000	0.37304	0.105000	0.21289	0.656000	0.38851	1.377000	0.34317	0.714000	0.32081	0.591000	0.81541	CTG		0.453	SLC9B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253805.1	NM_178833		16	26	0	0	0	1	0	16	26				
R3HDM2	22864	broad.mit.edu	37	12	57674222	57674222	+	Silent	SNP	C	C	T			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr12:57674222C>T	ENST00000347140.3	-	14	1611	c.1221G>A	c.(1219-1221)caG>caA	p.Q407Q	R3HDM2_ENST00000403821.2_Silent_p.Q407Q|RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000413953.2_Silent_p.Q134Q|R3HDM2_ENST00000402412.1_Silent_p.Q421Q|R3HDM2_ENST00000441731.2_Silent_p.Q68Q|R3HDM2_ENST00000358907.2_Silent_p.Q407Q			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	407	Gln-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						gctgctgctgctgttgctgct	0.567																																						ENST00000402412.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(1261-1263)caG>caA		R3H domain containing 2							104.0	93.0	97.0					12																	57674222		2203	4300	6503	SO:0001819	synonymous_variant	22864					nucleus	nucleic acid binding	g.chr12:57674222C>T	AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.1221G>A	12.37:g.57674222C>T						R3HDM2_ENST00000403821.2_Silent_p.Q407Q|R3HDM2_ENST00000441731.2_Silent_p.Q68Q|R3HDM2_ENST00000347140.3_Silent_p.Q407Q|R3HDM2_ENST00000413953.2_Silent_p.Q134Q|R3HDM2_ENST00000358907.2_Silent_p.Q407Q|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000393811.2_Silent_p.Q134Q	p.Q421Q			Q9Y2K5	R3HD2_HUMAN			14	1653	-			407			Gln-rich.		Q2M1T9|Q3ZCT5	Silent	SNP	ENST00000347140.3	37	c.1263G>A	CCDS8937.2	.	.	.	.	.	.	.	.	.	.	C	12.71	2.018308	0.35606	.	.	ENSG00000179912	ENST00000466401	.	.	.	4.49	1.62	0.23740	.	.	.	.	.	T	0.51719	0.1691	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36768	-0.9734	4	.	.	.	1.0729	5.4164	0.16376	0.0:0.5998:0.1455:0.2548	.	.	.	.	N	5	.	.	S	-	2	0	R3HDM2	55960489	0.030000	0.19436	0.992000	0.48379	0.921000	0.55340	-1.132000	0.03235	0.156000	0.19299	-0.294000	0.09567	AGC		0.567	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2	NM_014925		4	68	0	0	0	1	0	4	68				
RELB	5971	broad.mit.edu	37	19	45540972	45540972	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr19:45540972G>A	ENST00000221452.8	+	12	1814	c.1664G>A	c.(1663-1665)aGc>aAc	p.S555N	RELB_ENST00000505236.1_Missense_Mutation_p.S552N|CLASRP_ENST00000544944.2_5'Flank|RELB_ENST00000540120.1_Missense_Mutation_p.S555N|CLASRP_ENST00000221455.3_5'Flank|CLASRP_ENST00000391953.4_5'Flank	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	555					antigen processing and presentation (GO:0019882)|circadian regulation of gene expression (GO:0032922)|myeloid dendritic cell differentiation (GO:0043011)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of gene expression (GO:0010628)|T-helper 1 cell differentiation (GO:0045063)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		CTTGTGGGCAGCAACATGTTC	0.701																																						ENST00000221452.8																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12						c.(1663-1665)aGc>aAc		v-rel avian reticuloendotheliosis viral oncogene homolog B							21.0	24.0	23.0					19																	45540972		1892	4113	6005	SO:0001583	missense	5971					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:45540972G>A	M83221	CCDS46110.1	19q13.32	2013-07-09	2013-07-09		ENSG00000104856	ENSG00000104856			9956	protein-coding gene	gene with protein product		604758	"""v-rel avian reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3)"""			1531086	Standard	NM_006509		Approved	REL-B	uc021uvp.1	Q01201	OTTHUMG00000162116	ENST00000221452.8:c.1664G>A	19.37:g.45540972G>A	ENSP00000221452:p.Ser555Asn					RELB_ENST00000540120.1_Missense_Mutation_p.S555N|RELB_ENST00000505236.1_Missense_Mutation_p.S552N	p.S555N	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00986)	12	1814	+		Ovarian(192;0.0728)|all_neural(266;0.112)	555					Q6GTX7|Q9UEI7	Missense_Mutation	SNP	ENST00000221452.8	37	c.1664G>A	CCDS46110.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812677	0.70912	.	.	ENSG00000104856	ENST00000221452;ENST00000540120;ENST00000505236	T;T;T	0.57107	0.43;0.43;0.42	4.59	4.59	0.56863	.	0.000000	0.56097	D	0.000021	T	0.46132	0.1377	N	0.19112	0.55	0.26782	N	0.969576	D	0.58268	0.982	P	0.52454	0.699	T	0.38156	-0.9674	10	0.51188	T	0.08	0.1499	10.0553	0.42241	0.0:0.0:0.7993:0.2007	.	552	D6R992	.	N	555;555;552	ENSP00000221452:S555N;ENSP00000445542:S555N;ENSP00000423287:S552N	ENSP00000221452:S555N	S	+	2	0	RELB	50232812	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.953000	0.63624	2.397000	0.81536	0.462000	0.41574	AGC		0.701	RELB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000367361.2			3	53	0	0	0	1	0	3	53				
ABHD10	55347	broad.mit.edu	37	3	111705808	111705808	+	Silent	SNP	A	A	C			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr3:111705808A>C	ENST00000273359.3	+	4	513	c.486A>C	c.(484-486)gcA>gcC	p.A162A	ABHD10_ENST00000494817.1_Silent_p.A162A|ABHD10_ENST00000534857.1_Silent_p.A5A	NM_018394.2	NP_060864.1	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10	162					glucuronoside catabolic process (GO:0019391)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			large_intestine(2)|lung(7)|skin(1)	10						TTCATGCTGCAATTGCACGAC	0.383																																						ENST00000273359.3																			0				large_intestine(2)|lung(7)|skin(1)	10						c.(484-486)gcA>gcC		abhydrolase domain containing 10							146.0	136.0	139.0					3																	111705808		2203	4300	6503	SO:0001819	synonymous_variant	55347					mitochondrion	serine-type peptidase activity	g.chr3:111705808A>C	AL713726	CCDS2963.1, CCDS63718.1	3q13.2	2012-03-26			ENSG00000144827	ENSG00000144827		"""Abhydrolase domain containing"""	25656	protein-coding gene	gene with protein product						22294686	Standard	NM_018394		Approved	FLJ11342	uc003dyk.5	Q9NUJ1	OTTHUMG00000159280	ENST00000273359.3:c.486A>C	3.37:g.111705808A>C						ABHD10_ENST00000534857.1_Silent_p.A5A|ABHD10_ENST00000494817.1_Silent_p.A162A	p.A162A	NM_018394.2	NP_060864.1	Q9NUJ1	ABHDA_HUMAN			4	513	+			162					B7Z6A8|C9IZX5|D3DN63|Q8TCF9	Silent	SNP	ENST00000273359.3	37	c.486A>C	CCDS2963.1																																																																																				0.383	ABHD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354326.1	NM_018394		34	61	0	0	0	1	0	34	61				
AHDC1	27245	broad.mit.edu	37	1	27875353	27875355	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:27875353_27875355delAGG	ENST00000247087.5	-	5	3868_3870	c.3272_3274delCCT	c.(3271-3276)tccttc>ttc	p.S1091del	AHDC1_ENST00000374011.2_In_Frame_Del_p.S1091del			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1091							DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GAGGGCTGGAaggaggaggagga	0.665																																						ENST00000374011.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(3271-3276)ttc>t		AT hook, DNA binding motif, containing 1																																				SO:0001651	inframe_deletion	27245						DNA binding	g.chr1:27875353_27875355delAGG	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.3272_3274delCCT	1.37:g.27875362_27875364delAGG	ENSP00000247087:p.Ser1091del					AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_In_Frame_Del_p.SF1091del	p.SF1091del	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	4240_4242	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1091					Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	In_Frame_Del	DEL	ENST00000247087.5	37	c.3272_3274delCCT	CCDS30652.1																																																																																				0.665	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			7	49						7	49	---	---	---	---
CNTN4	152330	broad.mit.edu	37	3	3078909	3078909	+	Frame_Shift_Del	DEL	T	T	-	rs561339404		TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr3:3078909delT	ENST00000397461.1	+	17	2373	c.1989delT	c.(1987-1989)ggtfs	p.G663fs	CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000397459.2_Frame_Shift_Del_p.G335fs|CNTN4_ENST00000448906.2_Frame_Shift_Del_p.G335fs|CNTN4_ENST00000358480.3_Frame_Shift_Del_p.G444fs|CNTN4_ENST00000418658.1_Frame_Shift_Del_p.G663fs|CNTN4_ENST00000427331.1_Frame_Shift_Del_p.G663fs	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	663	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CCGTGGTGGGTTTGAACCCTT	0.502																																						ENST00000397461.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1987-1989)ggfs		contactin 4							168.0	168.0	168.0					3																	3078909		2203	4300	6503	SO:0001589	frameshift_variant	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:3078909delT	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.1989delT	3.37:g.3078909delT	ENSP00000380602:p.Gly663fs					CNTN4_ENST00000418658.1_Frame_Shift_Del_p.G663fs|CNTN4_ENST00000427331.1_Frame_Shift_Del_p.G663fs|CNTN4_ENST00000358480.3_Frame_Shift_Del_p.G444fs|CNTN4_ENST00000397459.2_Frame_Shift_Del_p.G335fs|CNTN4_ENST00000448906.2_Frame_Shift_Del_p.G335fs	p.G663fs	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	17	2373	+		Ovarian(110;0.156)	663			Fibronectin type-III 1.		B2RAX3|Q8IX14|Q8TC35	Frame_Shift_Del	DEL	ENST00000397461.1	37	c.1989delT	CCDS43041.1																																																																																				0.502	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			12	319						12	319	---	---	---	---
NIPBL	25836	broad.mit.edu	37	5	36986119	36986120	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr5:36986119_36986120insG	ENST00000282516.8	+	10	3336_3337	c.2837_2838insG	c.(2836-2841)ttggggfs	p.LG946fs	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Frame_Shift_Ins_p.LG946fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	946					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGTTATTTGTTGGGGGGCAGGT	0.391																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(2836-2838)tggfs		Nipped-B homolog (Drosophila)																																				SO:0001589	frameshift_variant	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36986119_36986120insG	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.2843dupG	5.37:g.36986125_36986125dupG	ENSP00000282516:p.Leu946fs					NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Frame_Shift_Ins_p.W946fs	p.W946fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		10	3336_3337	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		946					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Frame_Shift_Ins	INS	ENST00000282516.8	37	c.2837_2838insG	CCDS3920.1																																																																																				0.391	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		60	119						60	119	---	---	---	---
LINC00957	255031	broad.mit.edu	37	7	44080549	44080549	+	lincRNA	DEL	C	C	-			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr7:44080549delC	ENST00000441052.1	+	0	1234				RASA4CP_ENST00000446874.1_RNA					long intergenic non-protein coding RNA 957																		GCGCCCCGCACCCCCCCGGAG	0.612																																						ENST00000441052.1																			0																																																			0							g.chr7:44080549delC	BC014556		7p13	2013-06-04			ENSG00000235314	ENSG00000235314		"""Long non-coding RNAs"""	22332	non-coding RNA	RNA, long non-coding							Standard	NR_015401		Approved				OTTHUMG00000155351		7.37:g.44080549delC														0	1234	+									RNA	DEL	ENST00000441052.1	37																																																																																						0.612	LINC00957-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000339589.1			9	81						9	81	---	---	---	---
ZNF462	58499	broad.mit.edu	37	9	109690957	109690957	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr9:109690957delT	ENST00000277225.5	+	3	5053	c.4764delT	c.(4762-4764)actfs	p.T1588fs	ZNF462_ENST00000441147.2_Frame_Shift_Del_p.T433fs|ZNF462_ENST00000457913.1_Frame_Shift_Del_p.T1588fs			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1588					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CACACGGCACTTTGGAGAAAC	0.532																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(4762-4764)acfs		zinc finger protein 462							80.0	74.0	76.0					9																	109690957		2203	4300	6503	SO:0001589	frameshift_variant	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109690957delT	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.4764delT	9.37:g.109690957delT	ENSP00000277225:p.Thr1588fs					ZNF462_ENST00000441147.2_Frame_Shift_Del_p.T433fs|ZNF462_ENST00000457913.1_Frame_Shift_Del_p.T1588fs	p.T1588fs			Q96JM2	ZN462_HUMAN			3	5053	+			1588					Q5T0T4|Q8N408	Frame_Shift_Del	DEL	ENST00000277225.5	37	c.4764delT	CCDS35096.1																																																																																				0.532	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		46	69						46	69	---	---	---	---
ZNF492	57615	broad.mit.edu	37	19	22847842	22847842	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr19:22847842delT	ENST00000456783.2	+	4	1615	c.1371delT	c.(1369-1371)gctfs	p.A457fs	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	457					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				GTGGCAAAGCTTTTAACCAGT	0.388																																						ENST00000456783.2																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1369-1371)gcfs		zinc finger protein 492							34.0	48.0	44.0					19																	22847842		2023	4243	6266	SO:0001589	frameshift_variant	57615				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22847842delT	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.1371delT	19.37:g.22847842delT	ENSP00000413660:p.Ala457fs						p.A457fs	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN			4	1615	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	457					Q08EI7|Q08EI8	Frame_Shift_Del	DEL	ENST00000456783.2	37	c.1371delT	CCDS46032.1																																																																																				0.388	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		106	25						106	25	---	---	---	---
KIZ-AS1	101929591	broad.mit.edu	37	20	21142441	21142442	+	RNA	INS	-	-	A	rs377451007|rs113752643|rs570165711	byFrequency	TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr20:21142441_21142442insA	ENST00000591761.1	-	0	5142				RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA																							TTCATTTCTGGAAAAAAAAAAA	0.366																																						ENST00000591761.1																			0																																																			0							g.chr20:21142441_21142442insA																													20.37:g.21142452_21142452dupA						PLK1S1_ENST00000457464.1_RNA|RP5-872K7.7_ENST00000425746.2_RNA								0	5142	-									RNA	INS	ENST00000591761.1	37																																																																																						0.366	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2			4	6						4	6	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76814303	76814306	+	Frame_Shift_Del	DEL	ATAA	ATAA	-			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chrX:76814303_76814306delATAA	ENST00000373344.5	-	29	6552_6555	c.6338_6341delTTAT	c.(6337-6342)tttatcfs	p.FI2113fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.FI2075fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2113	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with MECP2.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.F2113fs*9(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AGTAGAAATGATAAATAATCGTCC	0.289			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		2	Unknown(1)|Deletion - Frameshift(1)	p.F2113fs*9(1)|p.?(1)	bone(1)|pancreas(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(6337-6342)tcfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76814303_76814306delATAA	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6338_6341delTTAT	X.37:g.76814307_76814310delATAA	ENSP00000362441:p.Phe2113fs					ATRX_ENST00000395603.3_Frame_Shift_Del_p.FI2075fs|ATRX_ENST00000480283.1_5'UTR	p.FI2113fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			29	6552_6555	-			2113			Helicase C-terminal.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.6338_6341delTTAT	CCDS14434.1																																																																																				0.289	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		32	9						32	9	---	---	---	---
