#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
DCAF6	55827	broad.mit.edu	37	1	167973820	167973820	+	Silent	SNP	T	T	C			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr1:167973820T>C	ENST00000312263.6	+	10	1371	c.1167T>C	c.(1165-1167)agT>agC	p.S389S	DCAF6_ENST00000367843.3_Silent_p.S389S|DCAF6_ENST00000432587.2_Silent_p.S358S|DCAF6_ENST00000367840.3_Silent_p.S389S	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	389					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						tcccatcaagtcctgatttgg	0.378																																						ENST00000367840.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						c.(1165-1167)agT>agC		DDB1 and CUL4 associated factor 6							56.0	52.0	53.0					1																	167973820		2202	4300	6502	SO:0001819	synonymous_variant	55827				positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity	g.chr1:167973820T>C	AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.1167T>C	1.37:g.167973820T>C						DCAF6_ENST00000312263.6_Silent_p.S389S|DCAF6_ENST00000367843.3_Silent_p.S389S|DCAF6_ENST00000432587.2_Silent_p.S358S	p.S389S	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN			10	1261	+			389					A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Silent	SNP	ENST00000312263.6	37	c.1167T>C	CCDS30933.1																																																																																				0.378	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2	NM_018442		2	14	0	0	0	1	0	2	14				
DNAJC13	23317	broad.mit.edu	37	3	132196839	132196839	+	Missense_Mutation	SNP	A	A	G	rs387907571		TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr3:132196839A>G	ENST00000260818.6	+	24	2812	c.2564A>G	c.(2563-2565)aAt>aGt	p.N855S		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	855					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						GAATTTTTCAATGAGCTTTAT	0.343																																						ENST00000260818.6																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.(2563-2565)aAt>aGt		DnaJ (Hsp40) homolog, subfamily C, member 13							58.0	61.0	60.0					3																	132196839		2203	4300	6503	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132196839A>G	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.2564A>G	3.37:g.132196839A>G	ENSP00000260818:p.Asn855Ser						p.N855S	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN			24	2812	+			855					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.2564A>G	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	A	19.97	3.924742	0.73213	.	.	ENSG00000138246	ENST00000260818	T	0.12361	2.69	5.41	5.41	0.78517	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.34832	0.0911	M	0.64170	1.965	0.80722	D	1	D	0.63880	0.993	D	0.72625	0.978	T	0.02705	-1.1121	10	0.49607	T	0.09	.	15.7331	0.77822	1.0:0.0:0.0:0.0	.	855	O75165	DJC13_HUMAN	S	855	ENSP00000260818:N855S	ENSP00000260818:N855S	N	+	2	0	DNAJC13	133679529	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	8.743000	0.91592	2.169000	0.68431	0.528000	0.53228	AAT		0.343	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		5	25	0	0	0	1	0	5	25				
LRRC66	339977	broad.mit.edu	37	4	52869403	52869403	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr4:52869403G>A	ENST00000343457.3	-	2	658	c.652C>T	c.(652-654)Ctc>Ttc	p.L218F		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	218						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						AATTTTTTGAGGTCCTTGAAG	0.348																																						ENST00000343457.3																			0				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						c.(652-654)Ctc>Ttc		leucine rich repeat containing 66							86.0	80.0	82.0					4																	52869403		1806	4067	5873	SO:0001583	missense	339977					integral to membrane		g.chr4:52869403G>A	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.652C>T	4.37:g.52869403G>A	ENSP00000341944:p.Leu218Phe						p.L218F	NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN			2	658	-			218						Missense_Mutation	SNP	ENST00000343457.3	37	c.652C>T	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.851691	0.32699	.	.	ENSG00000188993	ENST00000343457	T	0.70749	-0.51	5.55	3.81	0.43845	.	0.164203	0.29335	N	0.012456	D	0.83492	0.5266	M	0.87269	2.87	0.29523	N	0.85331	D	0.89917	1.0	D	0.81914	0.995	T	0.79376	-0.1829	10	0.72032	D	0.01	-5.429	8.6605	0.34091	0.0806:0.1521:0.7673:0.0	.	218	Q68CR7	LRC66_HUMAN	F	218	ENSP00000341944:L218F	ENSP00000341944:L218F	L	-	1	0	LRRC66	52564160	1.000000	0.71417	1.000000	0.80357	0.037000	0.13140	2.982000	0.49337	0.883000	0.36040	-0.136000	0.14681	CTC		0.348	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		5	52	0	0	0	1	0	5	52				
OTUD4	54726	broad.mit.edu	37	4	146059006	146059006	+	Missense_Mutation	SNP	G	G	A	rs558808115		TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr4:146059006G>A	ENST00000447906.2	-	21	3108	c.2921C>T	c.(2920-2922)aCt>aTt	p.T974I	OTUD4_ENST00000454497.2_Missense_Mutation_p.T909I|OTUD4_ENST00000455611.2_Intron			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		4	184	0	0	0	1	0	4	184				
FRMD7	90167	broad.mit.edu	37	X	131212858	131212858	+	Missense_Mutation	SNP	G	G	T			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chrX:131212858G>T	ENST00000298542.4	-	12	1362	c.1187C>A	c.(1186-1188)tCc>tAc	p.S396Y	FRMD7_ENST00000370879.1_Missense_Mutation_p.S276Y|FRMD7_ENST00000464296.1_Missense_Mutation_p.S381Y	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	396					regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					CTCTGGTTTGGAatgctccag	0.478																																						ENST00000298542.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(1186-1188)tCc>tAc		FERM domain containing 7							184.0	163.0	170.0					X																	131212858		2203	4300	6503	SO:0001583	missense	90167				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	g.chrX:131212858G>T	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"""nystagmus 1, congenital"""	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.1187C>A	X.37:g.131212858G>T	ENSP00000298542:p.Ser396Tyr					FRMD7_ENST00000370879.1_Missense_Mutation_p.S276Y|FRMD7_ENST00000464296.1_Missense_Mutation_p.S381Y	p.S396Y	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN			12	1362	-	Acute lymphoblastic leukemia(192;0.000127)		396					C0LLJ3|Q5JX99	Missense_Mutation	SNP	ENST00000298542.4	37	c.1187C>A	CCDS35397.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.581116	0.28180	.	.	ENSG00000165694	ENST00000370879;ENST00000298542;ENST00000464296	D;D;D	0.89343	-2.5;-2.12;-2.22	5.83	5.83	0.93111	.	0.081565	0.52532	D	0.000067	D	0.92606	0.7651	M	0.69823	2.125	0.30639	N	0.756654	D;D	0.64830	0.994;0.99	P;P	0.60682	0.878;0.825	D	0.91378	0.5125	10	0.54805	T	0.06	.	13.2594	0.60097	0.0793:0.0:0.9207:0.0	.	381;396	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	Y	276;396;381	ENSP00000359916:S276Y;ENSP00000298542:S396Y;ENSP00000417996:S381Y	ENSP00000298542:S396Y	S	-	2	0	FRMD7	131040539	1.000000	0.71417	0.880000	0.34516	0.066000	0.16364	5.255000	0.65462	2.460000	0.83146	0.600000	0.82982	TCC		0.478	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277		40	100	1	0	5.20006e-24	1	6.14553e-24	40	100				
SLC16A13	201232	broad.mit.edu	37	17	6941915	6941915	+	Missense_Mutation	SNP	T	T	A			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr17:6941915T>A	ENST00000308027.6	+	3	1096	c.788T>A	c.(787-789)cTc>cAc	p.L263H		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	263						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						ATTTCTGACCTCGTGGGGCGT	0.587																																						ENST00000308027.6																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						c.(787-789)cTc>cAc		solute carrier family 16, member 13							120.0	109.0	113.0					17																	6941915		2203	4300	6503	SO:0001583	missense	201232					integral to membrane|plasma membrane	symporter activity	g.chr17:6941915T>A	BN000145	CCDS11085.1	17p13.1	2013-07-18	2013-07-18		ENSG00000174327	ENSG00000174327		"""Solute carriers"""	31037	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 13"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 13"""				Standard	NM_201566		Approved	MCT13	uc002geh.3	Q7RTY0	OTTHUMG00000102089	ENST00000308027.6:c.788T>A	17.37:g.6941915T>A	ENSP00000309751:p.Leu263His						p.L263H	NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN			3	1096	+			263					A3KMG3|A5PKU5|Q2VP92	Missense_Mutation	SNP	ENST00000308027.6	37	c.788T>A	CCDS11085.1	.	.	.	.	.	.	.	.	.	.	T	19.57	3.852844	0.71719	.	.	ENSG00000174327	ENST00000308027	T	0.61274	0.12	5.59	4.51	0.55191	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.376195	0.26761	N	0.022628	T	0.72342	0.3448	M	0.76170	2.325	0.36717	D	0.880962	D	0.76494	0.999	D	0.74674	0.984	T	0.76833	-0.2813	10	0.51188	T	0.08	.	9.9076	0.41386	0.0:0.0812:0.0:0.9188	.	263	Q7RTY0	MOT13_HUMAN	H	263	ENSP00000309751:L263H	ENSP00000309751:L263H	L	+	2	0	SLC16A13	6882639	0.958000	0.32768	0.956000	0.39512	0.980000	0.70556	2.465000	0.45075	0.942000	0.37525	0.455000	0.32223	CTC		0.587	SLC16A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219923.2			12	123	0	0	0	1	0	12	123				
MRPL2	51069	broad.mit.edu	37	6	43023654	43023654	+	Silent	SNP	G	G	A			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr6:43023654G>A	ENST00000388752.3	-	5	1036	c.612C>T	c.(610-612)gcC>gcT	p.A204A	CUL7_ENST00000535468.1_5'Flank|CUL7_ENST00000265348.3_5'Flank|MRPL2_ENST00000489623.1_Intron|MRPL2_ENST00000230413.5_Silent_p.A204A	NM_015950.3	NP_057034.2	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2	204					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		GGATATATTGGGCACCCCGGC	0.557																																						ENST00000388752.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9						c.(610-612)gcC>gcT		mitochondrial ribosomal protein L2							46.0	41.0	43.0					6																	43023654		2203	4300	6503	SO:0001819	synonymous_variant	51069				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr6:43023654G>A	AB051617	CCDS34454.1, CCDS75458.1	6p21.3	2012-09-13			ENSG00000112651	ENSG00000112651		"""Mitochondrial ribosomal proteins / large subunits"""	14056	protein-coding gene	gene with protein product		611822					Standard	XM_005249161		Approved	MRP-L14, RPML14, CGI-22	uc003ots.1	Q5T653	OTTHUMG00000014719	ENST00000388752.3:c.612C>T	6.37:g.43023654G>A						MRPL2_ENST00000230413.5_Silent_p.A204A|MRPL2_ENST00000489623.1_Intron	p.A204A	NM_015950.3	NP_057034.2	Q5T653	RM02_HUMAN	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)	5	1036	-		Ovarian(999;0.0014)	204					B2RC56|Q8WUL1|Q96Q56|Q9Y311	Silent	SNP	ENST00000388752.3	37	c.612C>T	CCDS34454.1																																																																																				0.557	MRPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040577.2			5	50	0	0	0	1	0	5	50				
ZNF208	7757	broad.mit.edu	37	19	22155896	22155896	+	Missense_Mutation	SNP	A	A	C			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr19:22155896A>C	ENST00000397126.4	-	4	2088	c.1940T>G	c.(1939-1941)aTt>aGt	p.I647S	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	647					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGAGACCTTAATAAAGGTTTT	0.398																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(1939-1941)aTt>aGt		zinc finger protein 208							108.0	112.0	110.0					19																	22155896		2126	4263	6389	SO:0001583	missense	7757							g.chr19:22155896A>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1940T>G	19.37:g.22155896A>C	ENSP00000380315:p.Ile647Ser					ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	p.I647S	NM_007153.3	NP_009084.2					4	2088	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.1940T>G	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.852850	0.00004	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.34472	1.36	2.49	-4.98	0.03019	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12987	0.0315	.	.	.	0.09310	N	1	B	0.25441	0.126	B	0.28385	0.089	T	0.08932	-1.0698	8	0.02654	T	1	.	3.9444	0.09343	0.0966:0.28:0.437:0.1864	.	547	O43345	ZN208_HUMAN	S	647;547	ENSP00000380315:I647S	ENSP00000380315:I647S	I	-	2	0	ZNF208	21947736	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-9.082000	0.00014	-4.116000	0.00072	-4.061000	0.00012	ATT		0.398	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		3	100	0	0	0	1	0	3	100				
USP37	57695	broad.mit.edu	37	2	219353074	219353074	+	Missense_Mutation	SNP	G	G	T			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr2:219353074G>T	ENST00000258399.3	-	15	1955	c.1543C>A	c.(1543-1545)Cca>Aca	p.P515T	USP37_ENST00000418019.1_Missense_Mutation_p.P515T|USP37_ENST00000454775.1_Missense_Mutation_p.P515T|USP37_ENST00000415516.1_Missense_Mutation_p.P443T|USP37_ENST00000475553.1_5'Flank	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	515	USP.				G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		GGAGGGAGTGGTTTTTTCCTA	0.323																																						ENST00000258399.3																			0				NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35						c.(1543-1545)Cca>Aca		ubiquitin specific peptidase 37							115.0	117.0	116.0					2																	219353074		2203	4300	6503	SO:0001583	missense	57695				ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:219353074G>T	AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"""Ubiquitin-specific peptidases"""	20063	protein-coding gene	gene with protein product			"""ubiquitin specific protease 37"""			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.1543C>A	2.37:g.219353074G>T	ENSP00000258399:p.Pro515Thr					USP37_ENST00000415516.1_Missense_Mutation_p.P443T|USP37_ENST00000418019.1_Missense_Mutation_p.P515T|USP37_ENST00000454775.1_Missense_Mutation_p.P515T	p.P515T	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)	15	1955	-		Renal(207;0.0915)	515					A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP	ENST00000258399.3	37	c.1543C>A	CCDS2418.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.498130	0.26861	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019	T;T;T;T	0.41400	1.0;1.0;1.03;1.0	5.16	5.16	0.70880	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.184108	0.47093	D	0.000249	T	0.23451	0.0567	N	0.04880	-0.145	0.80722	D	1	B;B	0.13594	0.008;0.002	B;B	0.15484	0.013;0.006	T	0.06075	-1.0847	10	0.36615	T	0.2	-10.9939	12.8558	0.57884	0.0855:0.0:0.9145:0.0	.	443;515	Q86T82-2;Q86T82	.;UBP37_HUMAN	T	515;515;443;515	ENSP00000258399:P515T;ENSP00000393662:P515T;ENSP00000400902:P443T;ENSP00000396585:P515T	ENSP00000258399:P515T	P	-	1	0	USP37	219061318	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.501000	0.66950	2.587000	0.87381	0.655000	0.94253	CCA		0.323	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	NM_020935		8	85	1	0	7.48243e-07	1	8.64636e-07	8	85				
GPATCH4	54865	broad.mit.edu	37	1	156565214	156565214	+	Missense_Mutation	SNP	T	T	C			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr1:156565214T>C	ENST00000438976.2	-	8	949	c.919A>G	c.(919-921)Aag>Gag	p.K307E	GPATCH4_ENST00000368232.4_Missense_Mutation_p.K302E|GPATCH4_ENST00000497287.1_5'Flank			Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	302							poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACCCCCATCTTCTCCTCTTCA	0.537																																						ENST00000368232.4																			0				autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17						c.(904-906)Aag>Gag		G patch domain containing 4							241.0	232.0	235.0					1																	156565214		2203	4300	6503	SO:0001583	missense	54865					intracellular	nucleic acid binding	g.chr1:156565214T>C	BC056904	CCDS1146.1, CCDS44245.1	1q22	2013-01-28		2006-12-13	ENSG00000160818	ENSG00000160818		"""G patch domain containing"""	25982	protein-coding gene	gene with protein product				GPATC4		12477932	Standard	NM_015590		Approved	FLJ20249, DKFZP434F1735	uc001fpl.3	Q5T3I0	OTTHUMG00000033203	ENST00000438976.2:c.919A>G	1.37:g.156565214T>C	ENSP00000396441:p.Lys307Glu					GPATCH4_ENST00000438976.2_Missense_Mutation_p.K307E	p.K302E	NM_015590.3|NM_182679.2	NP_056405.2|NP_872620.1	Q5T3I0	GPTC4_HUMAN			8	1036	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		302					Q5T3I1|Q6ZUE7|Q8IWG8|Q9NXH4	Missense_Mutation	SNP	ENST00000438976.2	37	c.904A>G	CCDS44245.1	.	.	.	.	.	.	.	.	.	.	T	9.566	1.119799	0.20877	.	.	ENSG00000160818	ENST00000368232;ENST00000368229;ENST00000438976	T;T	0.43294	0.95;0.95	4.84	0.438	0.16560	.	1.997720	0.02395	N	0.080114	T	0.08403	0.0209	N	0.20807	0.61	0.19775	N	0.999959	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.08371	-1.0725	10	0.11794	T	0.64	.	4.5203	0.11956	0.1524:0.5536:0.0:0.294	.	307;302	E9PAV9;Q5T3I0	.;GPTC4_HUMAN	E	302;302;307	ENSP00000357215:K302E;ENSP00000396441:K307E	ENSP00000357212:K302E	K	-	1	0	GPATCH4	154831838	0.000000	0.05858	0.000000	0.03702	0.510000	0.34073	-0.310000	0.08135	-0.017000	0.14103	0.455000	0.32223	AAG		0.537	GPATCH4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386947.1	NM_017725		25	172	0	0	0	1	0	25	172				
NUP107	57122	broad.mit.edu	37	12	69085781	69085781	+	Missense_Mutation	SNP	G	G	T			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr12:69085781G>T	ENST00000229179.4	+	5	669	c.337G>T	c.(337-339)Gca>Tca	p.A113S	NUP107_ENST00000539906.1_Missense_Mutation_p.A84S|NUP107_ENST00000378905.2_Intron	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	113					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			CTGGGCAGCTGCATTTTCATC	0.393																																						ENST00000229179.4																		NUP107/LGR5(2)	0				breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39						c.(337-339)Gca>Tca		nucleoporin 107kDa							83.0	75.0	78.0					12																	69085781		2203	4300	6503	SO:0001583	missense	57122				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr12:69085781G>T	AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.337G>T	12.37:g.69085781G>T	ENSP00000229179:p.Ala113Ser					NUP107_ENST00000539906.1_Missense_Mutation_p.A84S|NUP107_ENST00000378905.2_Intron	p.A113S	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)		5	669	+	Breast(13;6.25e-06)		113					B4DZ67|Q6PJE1	Missense_Mutation	SNP	ENST00000229179.4	37	c.337G>T	CCDS8985.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.619921	0.28801	.	.	ENSG00000111581	ENST00000229179;ENST00000539906;ENST00000538549	.	.	.	5.5	5.5	0.81552	.	0.205029	0.49916	D	0.000128	T	0.45776	0.1359	L	0.36672	1.1	0.80722	D	1	B;B	0.14012	0.009;0.009	B;B	0.11329	0.006;0.006	T	0.30327	-0.9982	8	.	.	.	-12.6252	11.9696	0.53055	0.0807:0.0:0.9193:0.0	.	84;113	B4DZ67;P57740	.;NU107_HUMAN	S	113;84;13	.	.	A	+	1	0	NUP107	67372048	0.985000	0.35326	1.000000	0.80357	0.934000	0.57294	2.179000	0.42528	2.756000	0.94617	0.563000	0.77884	GCA		0.393	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1	NM_020401		6	42	1	0	0.00198382	1	0.00219486	6	42				
SNRPC	6631	broad.mit.edu	37	6	34738121	34738121	+	Missense_Mutation	SNP	A	A	T			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr6:34738121A>T	ENST00000244520.5	+	5	442	c.304A>T	c.(304-306)Atg>Ttg	p.M102L	SNRPC_ENST00000374017.3_Missense_Mutation_p.M123L|SNRPC_ENST00000374018.1_Missense_Mutation_p.M61L|SNRPC_ENST00000474635.1_3'UTR	NM_003093.2	NP_003084.1			small nuclear ribonucleoprotein polypeptide C											endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	6						GGGCCCTCCCATGATGCCAAT	0.502																																					NSCLC(131;576 1831 5287 11175 13324)	ENST00000374017.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	6						c.(367-369)Atg>Ttg		small nuclear ribonucleoprotein polypeptide C							95.0	99.0	97.0					6																	34738121		2203	4300	6503	SO:0001583	missense	6631				spliceosomal snRNP assembly	Cajal body|U1 snRNP	protein homodimerization activity|single-stranded RNA binding|zinc ion binding	g.chr6:34738121A>T		CCDS34436.1	6p21	2014-03-06			ENSG00000124562	ENSG00000124562			11157	protein-coding gene	gene with protein product		603522				2971157, 8532530	Standard	NR_029472		Approved	U1-C, Yhc1	uc003ojt.2	P09234	OTTHUMG00000014555	ENST00000244520.5:c.304A>T	6.37:g.34738121A>T	ENSP00000244520:p.Met102Leu					SNRPC_ENST00000374018.1_Missense_Mutation_p.M61L|SNRPC_ENST00000474635.1_3'UTR|SNRPC_ENST00000244520.5_Missense_Mutation_p.M102L	p.M123L			P09234	RU1C_HUMAN			4	654	+			102						Missense_Mutation	SNP	ENST00000244520.5	37	c.367A>T	CCDS34436.1	.	.	.	.	.	.	.	.	.	.	A	18.97	3.735629	0.69189	.	.	ENSG00000124562	ENST00000244520;ENST00000374018;ENST00000374017	T;T;T	0.48522	0.81;0.81;0.81	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.30823	0.0777	L	0.49126	1.545	0.58432	D	0.999999	B	0.27068	0.167	B	0.38194	0.267	T	0.18713	-1.0328	10	0.10902	T	0.67	.	14.738	0.69430	1.0:0.0:0.0:0.0	.	102	P09234	RU1C_HUMAN	L	102;61;123	ENSP00000244520:M102L;ENSP00000363130:M61L;ENSP00000363129:M123L	ENSP00000244520:M102L	M	+	1	0	SNRPC	34846099	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.037000	0.93765	1.889000	0.54706	0.523000	0.50628	ATG		0.502	SNRPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040255.1	NM_003093		16	90	0	0	0	1	0	16	90				
SNX31	169166	broad.mit.edu	37	8	101612649	101612649	+	Silent	SNP	T	T	C			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr8:101612649T>C	ENST00000311812.2	-	9	852	c.702A>G	c.(700-702)aaA>aaG	p.K234K	SNX31_ENST00000428383.2_Silent_p.K135K	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	234					protein transport (GO:0015031)	protein complex (GO:0043234)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			TGGCCCATCCTTTTTCAATGT	0.358																																						ENST00000311812.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26						c.(700-702)aaA>aaG		sorting nexin 31							199.0	185.0	189.0					8																	101612649		2203	4300	6503	SO:0001819	synonymous_variant	169166				cell communication|protein transport		phosphatidylinositol binding	g.chr8:101612649T>C		CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226		"""Sorting nexins"""	28605	protein-coding gene	gene with protein product						16782399	Standard	NM_152628		Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.702A>G	8.37:g.101612649T>C						SNX31_ENST00000428383.2_Silent_p.K135K	p.K234K	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)		9	852	-	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		234					C9J6L9|Q8N0U9	Silent	SNP	ENST00000311812.2	37	c.702A>G	CCDS6288.1																																																																																				0.358	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379910.1	NM_152628		3	129	0	0	0	1	0	3	129				
FAM155A	728215	broad.mit.edu	37	13	108518661	108518661	+	Missense_Mutation	SNP	T	T	C			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr13:108518661T>C	ENST00000375915.2	-	1	422	c.284A>G	c.(283-285)cAg>cGg	p.Q95R		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	95	Poly-Gln.					integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						ctgccgccgctgctgctgctg	0.731																																						ENST00000375915.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(283-285)cAg>cGg		family with sequence similarity 155, member A							8.0	11.0	10.0					13																	108518661		1836	3781	5617	SO:0001583	missense	728215					integral to membrane	binding	g.chr13:108518661T>C	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.284A>G	13.37:g.108518661T>C	ENSP00000365080:p.Gln95Arg						p.Q95R	NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN			1	422	-			95			Poly-Gln.		B2RUV1|B7Z334	Missense_Mutation	SNP	ENST00000375915.2	37	c.284A>G	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	T	0.110	-1.140286	0.01728	.	.	ENSG00000204442	ENST00000375915	T	0.57436	0.4	5.23	3.12	0.35913	Armadillo-like helical (1);	0.660669	0.12437	N	0.469027	T	0.30417	0.0764	N	0.25332	0.735	0.19300	N	0.999978	B	0.02656	0.0	B	0.01281	0.0	T	0.27806	-1.0063	10	0.07030	T	0.85	.	3.3913	0.07290	0.0:0.517:0.2156:0.2674	.	95	B1AL88	F155A_HUMAN	R	95	ENSP00000365080:Q95R	ENSP00000365080:Q95R	Q	-	2	0	FAM155A	107316662	0.206000	0.23470	1.000000	0.80357	0.982000	0.71751	0.127000	0.15790	1.195000	0.43115	-0.181000	0.13052	CAG		0.731	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		3	18	0	0	0	1	0	3	18				
NID2	22795	broad.mit.edu	37	14	52520915	52520915	+	Missense_Mutation	SNP	G	G	A	rs147980330		TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr14:52520915G>A	ENST00000216286.5	-	4	891	c.892C>T	c.(892-894)Cgt>Tgt	p.R298C	NID2_ENST00000541773.1_Missense_Mutation_p.R245C	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	298					basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CTGAAGGAACGTCCCAGGGGA	0.517																																						ENST00000216286.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87						c.(892-894)Cgt>Tgt		nidogen 2 (osteonidogen)		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	53.0	51.0	52.0		892	4.6	0.0	14	dbSNP_134	52	4,8596	3.7+/-12.6	0,4,4296	yes	missense	NID2	NM_007361.3	180	0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384	possibly-damaging	298/1376	52520915	5,13001	2203	4300	6503	SO:0001583	missense	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52520915G>A	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.892C>T	14.37:g.52520915G>A	ENSP00000216286:p.Arg298Cys					NID2_ENST00000541773.1_Missense_Mutation_p.R245C	p.R298C	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN			4	891	-	Breast(41;0.0639)|all_epithelial(31;0.123)		298					A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	c.892C>T	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.127347	0.37533	2.27E-4	4.65E-4	ENSG00000087303	ENST00000216286;ENST00000541773;ENST00000395707	D;D	0.83914	-1.78;-1.67	5.52	4.6	0.57074	.	1.355620	0.04247	N	0.338017	T	0.74794	0.3763	N	0.14661	0.345	0.09310	N	1	B;D;D	0.58620	0.004;0.983;0.97	B;B;B	0.43575	0.001;0.424;0.332	T	0.65425	-0.6171	10	0.56958	D	0.05	.	8.9489	0.35776	0.0:0.1435:0.5605:0.2959	.	245;300;298	Q14112-2;Q5CZI2;Q14112	.;.;NID2_HUMAN	C	298;245;300	ENSP00000216286:R298C;ENSP00000443730:R245C	ENSP00000216286:R298C	R	-	1	0	NID2	51590665	0.003000	0.15002	0.002000	0.10522	0.013000	0.08279	1.364000	0.34171	1.394000	0.46624	0.655000	0.94253	CGT		0.517	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			6	26	0	0	0	1	0	6	26				
KIAA0226L	80183	broad.mit.edu	37	13	46918950	46918950	+	Missense_Mutation	SNP	C	C	A	rs530267659	byFrequency	TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr13:46918950C>A	ENST00000429979.1	-	14	2406	c.1802G>T	c.(1801-1803)gGc>gTc	p.G601V	KIAA0226L_ENST00000322896.6_Missense_Mutation_p.G444V|KIAA0226L_ENST00000409879.2_Missense_Mutation_p.G444V|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.A550S|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.G601V|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.G534V|KIAA0226L_ENST00000378781.3_3'UTR|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.G466V|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.A550S	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	601										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						ACAAATAAAGCCCTTTCCTTG	0.338													C|||	2	0.000399361	0.0	0.0	5008	,	,		19741	0.0		0.0	False		,,,				2504	0.002					ENST00000429979.1																			0				NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						c.(1801-1803)gGc>gTc		KIAA0226-like							81.0	72.0	75.0					13																	46918950		2203	4300	6503	SO:0001583	missense	80183							g.chr13:46918950C>A	AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 18"""	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.1802G>T	13.37:g.46918950C>A	ENSP00000396935:p.Gly601Val					KIAA0226L_ENST00000409879.2_Missense_Mutation_p.G444V|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.A550S|KIAA0226L_ENST00000378781.3_3'UTR|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.G601V|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.A550S|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.G466V|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.G534V|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.G444V	p.G601V	NM_025113.2	NP_079389.2	Q9H714	CM018_HUMAN			14	2406	-			601					A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Missense_Mutation	SNP	ENST00000429979.1	37	c.1802G>T	CCDS31970.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.5|25.5	4.643059|4.643059	0.87859|0.87859	.|.	.|.	ENSG00000102445|ENSG00000102445	ENST00000378797;ENST00000378787|ENST00000429979;ENST00000378784;ENST00000389908;ENST00000409879;ENST00000322896;ENST00000534925	T;T|T;T;T;T	0.42131|0.69175	0.98;0.98|-0.38;-0.36;-0.38;-0.29	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	1.003200|.	0.08035|.	N|.	0.994137|.	D|D	0.86443|0.86443	0.5934|0.5934	M|M	0.91920|0.91920	3.255|3.255	0.80722|0.80722	D|D	1|1	D|D;D;D;D;D	0.61697|0.89917	0.99|1.0;1.0;1.0;1.0;1.0	P|D;D;D;D;D	0.55749|0.97110	0.783|1.0;1.0;0.999;0.999;0.999	D|D	0.88461|0.88461	0.3055|0.3055	10|9	0.14656|0.87932	T|D	0.56|0	-20.6098|-20.6098	19.3377|19.3377	0.94326|0.94326	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	550|444;444;601;466;534	Q9H714-4|B7ZBN5;B7Z6E4;Q9H714;A8KAG9;Q9H714-3	.|.;.;K226L_HUMAN;.;.	S|V	550|601;534;601;444;444;466	ENSP00000368074:A550S;ENSP00000368064:A550S|ENSP00000396935:G601V;ENSP00000368061:G534V;ENSP00000374558:G601V;ENSP00000437501:G466V	ENSP00000368064:A550S|ENSP00000315633:G444V	A|G	-|-	1|2	0|0	KIAA0226L|KIAA0226L	45816951|45816951	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.380000|7.380000	0.79704|0.79704	2.814000|2.814000	0.96858|0.96858	0.591000|0.591000	0.81541|0.81541	GCT|GGC		0.338	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044809.2	NM_025113		3	25	1	0	0.00909568	1	0.00965256	3	25				
KRT85	3891	broad.mit.edu	37	12	52756045	52756045	+	Missense_Mutation	SNP	C	C	T	rs529091727		TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr12:52756045C>T	ENST00000257901.3	-	7	1363	c.1288G>A	c.(1288-1290)Gag>Aag	p.E430K	KRT85_ENST00000544265.1_Missense_Mutation_p.E218K	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	430	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGTGTTCCTCGCCCTCCAGC	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		16892	0.0		0.001	False		,,,				2504	0.0					ENST00000257901.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1288-1290)Gag>Aag		keratin 85							63.0	67.0	66.0					12																	52756045		2203	4300	6503	SO:0001583	missense	3891				epidermis development	keratin filament	protein binding|structural molecule activity	g.chr12:52756045C>T	X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6462	protein-coding gene	gene with protein product	"""hard keratin type II"""	602767	"""keratin, hair, basic, 5"""	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.1288G>A	12.37:g.52756045C>T	ENSP00000257901:p.Glu430Lys					KRT85_ENST00000544265.1_Missense_Mutation_p.E218K	p.E430K	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	7	1363	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		430			Coil 2.|Rod.		Q9NSB1	Missense_Mutation	SNP	ENST00000257901.3	37	c.1288G>A	CCDS8824.1	.	.	.	.	.	.	.	.	.	.	C	36	5.664649	0.96745	.	.	ENSG00000135443	ENST00000257901;ENST00000544265	D;D	0.93366	-3.21;-3.21	5.06	5.06	0.68205	Filament (1);	0.265160	0.28425	N	0.015397	D	0.97139	0.9065	M	0.88979	2.995	0.46798	D	0.999207	D	0.76494	0.999	D	0.69142	0.962	D	0.97976	1.0346	10	0.87932	D	0	.	18.434	0.90638	0.0:1.0:0.0:0.0	.	430	P78386	KRT85_HUMAN	K	430;218	ENSP00000257901:E430K;ENSP00000440240:E218K	ENSP00000257901:E430K	E	-	1	0	KRT85	51042312	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	6.090000	0.71397	2.363000	0.80096	0.561000	0.74099	GAG		0.582	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283		19	70	0	0	0	1	0	19	70				
HECTD4	283450	broad.mit.edu	37	12	112673539	112673539	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr12:112673539G>A	ENST00000430131.2	-	35	5373	c.4228C>T	c.(4228-4230)Ctc>Ttc	p.L1410F	HECTD4_ENST00000550722.1_Missense_Mutation_p.L1686F|HECTD4_ENST00000377560.5_Missense_Mutation_p.L1660F			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1410					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										AGGGAGAGGAGTTTGGACACA	0.522																																						ENST00000550722.1																			0											c.(5056-5058)Ctc>Ttc		HECT domain containing E3 ubiquitin protein ligase 4							34.0	35.0	35.0					12																	112673539		2026	4191	6217	SO:0001583	missense	283450							g.chr12:112673539G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.4228C>T	12.37:g.112673539G>A	ENSP00000404379:p.Leu1410Phe					HECTD4_ENST00000430131.2_Missense_Mutation_p.L1410F|HECTD4_ENST00000377560.5_Missense_Mutation_p.L1660F	p.L1686F	NM_001109662.3	NP_001103132.3					36	5451	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.5056C>T		.	.	.	.	.	.	.	.	.	.	G	36	5.705855	0.96812	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.67171	-0.25;-0.23;-0.25	6.03	6.03	0.97812	.	.	.	.	.	T	0.75012	0.3792	L	0.27053	0.805	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.76629	-0.2889	9	0.87932	D	0	.	20.5666	0.99351	0.0:0.0:1.0:0.0	.	1410	Q9Y4D8	K0614_HUMAN	F	1660;1410;1686	ENSP00000366783:L1660F;ENSP00000404379:L1410F;ENSP00000449784:L1686F	ENSP00000366783:L1660F	L	-	1	0	C12orf51	111157922	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.363000	0.97131	2.854000	0.98071	0.655000	0.94253	CTC		0.522	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		4	20	0	0	0	1	0	4	20				
TRAF5	7188	broad.mit.edu	37	1	211534503	211534503	+	Splice_Site	SNP	C	C	T	rs113925874	byFrequency	TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr1:211534503C>T	ENST00000261464.5	+	7	749	c.695C>T	c.(694-696)aCg>aTg	p.T232M	TRAF5_ENST00000336184.2_Splice_Site_p.T232M|TRAF5_ENST00000367004.3_Splice_Site_p.T232M|TRAF5_ENST00000427925.2_Intron|TRAF5_ENST00000462410.1_3'UTR	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	232					apoptotic process (GO:0006915)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	CD40 receptor complex (GO:0035631)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)	signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		TGTGCTGTAACGGTATGGAAT	0.413																																						ENST00000336184.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.e7+1		TNF receptor-associated factor 5		C	MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	173.0	141.0	152.0		695,695,695	0.5	0.5	1	dbSNP_132	152	2,8598	2.2+/-6.3	0,2,4298	no	missense-near-splice,missense-near-splice,missense-near-splice	TRAF5	NM_001033910.2,NM_004619.3,NM_145759.2	81,81,81	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,benign	232/558,232/558,232/558	211534503	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	7188				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:211534503C>T	AB000509	CCDS1497.1	1q32	2008-02-05			ENSG00000082512	ENSG00000082512		"""RING-type (C3HC4) zinc fingers"""	12035	protein-coding gene	gene with protein product		602356				9126477	Standard	NM_001033910		Approved	RNF84	uc001hii.3	O00463	OTTHUMG00000036997	ENST00000261464.5:c.696+1C>T	1.37:g.211534503C>T						TRAF5_ENST00000367004.3_Splice_Site_p.T232_splice|TRAF5_ENST00000427925.2_Intron|TRAF5_ENST00000261464.5_Splice_Site_p.T232_splice|TRAF5_ENST00000462410.1_3'UTR	p.T232_splice	NM_004619.3	NP_004610.1	O00463	TRAF5_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)	7	755	+			232					B4DIS9|B4E0A2|Q6FHY1	Splice_Site	SNP	ENST00000261464.5	37	c.696_splice	CCDS1497.1	.	.	.	.	.	.	.	.	.	.	C	7.032	0.560895	0.13498	0.0	2.33E-4	ENSG00000082512	ENST00000336184;ENST00000261464;ENST00000367004	T;T;T	0.31510	1.49;1.49;1.49	5.54	0.505	0.16953	Zinc finger, TRAF-type (1);TRAF-like (1);	0.119659	0.56097	D	0.000035	T	0.13157	0.0319	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.08269	-1.0730	10	0.40728	T	0.16	-9.8049	6.7201	0.23325	0.4155:0.2435:0.0:0.341	.	243;232	B4E0A2;O00463	.;TRAF5_HUMAN	M	232	ENSP00000336825:T232M;ENSP00000261464:T232M;ENSP00000355971:T232M	ENSP00000261464:T232M	T	+	2	0	TRAF5	209601126	0.994000	0.37717	0.475000	0.27278	0.169000	0.22640	1.101000	0.31037	-0.162000	0.10964	-1.072000	0.02254	ACG		0.413	TRAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089825.1	NM_004619	Missense_Mutation	10	55	0	0	0	1	0	10	55				
ZNF99	7652	broad.mit.edu	37	19	22939400	22939400	+	IGR	SNP	G	G	C	rs561180336		TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr19:22939400G>C	ENST00000596209.1	-	0	2686				ZNF99_ENST00000397104.3_Missense_Mutation_p.A924G|CTC-451A6.4_ENST00000442497.2_lincRNA	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTGCTTAAAAGCTTTGCCACA	0.368																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(2770-2772)gCt>gGt		zinc finger protein 99							37.0	50.0	46.0					19																	22939400		1990	4259	6249	SO:0001628	intergenic_variant	7652							g.chr19:22939400G>C	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22939400G>C							p.A924G							7	2770	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.2771C>G	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	12.32	1.902513	0.33628	.	.	ENSG00000213973	ENST00000397104	T	0.01043	5.41	1.26	1.26	0.21427	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01905	0.0060	.	.	.	0.09310	N	1	B	0.34103	0.437	B	0.43251	0.413	T	0.46289	-0.9202	8	0.66056	D	0.02	.	6.7624	0.23548	0.0:0.528:0.472:0.0	.	924	A8MXY4	ZNF99_HUMAN	G	924	ENSP00000380293:A924G	ENSP00000380293:A924G	A	-	2	0	ZNF99	22731240	0.000000	0.05858	0.004000	0.12327	0.157000	0.22087	-4.529000	0.00220	0.663000	0.31027	0.380000	0.24917	GCT		0.368	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		3	51	0	0	0	1	0	3	51				
ITPKB	3707	broad.mit.edu	37	1	226924561	226924561	+	Missense_Mutation	SNP	C	C	A			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr1:226924561C>A	ENST00000272117.3	-	1	598	c.599G>T	c.(598-600)cGg>cTg	p.R200L	ITPKB_ENST00000429204.1_Missense_Mutation_p.R200L|ITPKB_ENST00000366784.1_Missense_Mutation_p.R200L			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	200					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CTTTGTCCTCCGTTCCTCGCT	0.662																																					Colon(84;110 1851 5306 33547)	ENST00000429204.1																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30						c.(598-600)cGg>cTg		inositol-trisphosphate 3-kinase B							30.0	36.0	34.0					1																	226924561		2199	4281	6480	SO:0001583	missense	3707						ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr1:226924561C>A	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.599G>T	1.37:g.226924561C>A	ENSP00000272117:p.Arg200Leu					ITPKB_ENST00000366784.1_Missense_Mutation_p.R200L|ITPKB_ENST00000272117.3_Missense_Mutation_p.R200L	p.R200L	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN			2	926	-		Prostate(94;0.0773)	200					Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	ENST00000272117.3	37	c.599G>T	CCDS1555.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.055678	0.75960	.	.	ENSG00000143772	ENST00000272117;ENST00000429204;ENST00000366784	T;T;T	0.37411	1.26;1.26;1.2	4.6	4.6	0.57074	.	0.000000	0.47455	D	0.000224	T	0.39733	0.1089	L	0.27053	0.805	0.31771	N	0.632077	D	0.69078	0.997	P	0.60117	0.869	T	0.35325	-0.9793	10	0.27785	T	0.31	.	12.3982	0.55397	0.0:0.8301:0.1699:0.0	.	200	P27987	IP3KB_HUMAN	L	200	ENSP00000272117:R200L;ENSP00000411152:R200L;ENSP00000355748:R200L	ENSP00000272117:R200L	R	-	2	0	ITPKB	224991184	0.947000	0.32204	0.988000	0.46212	0.985000	0.73830	2.977000	0.49297	2.374000	0.81015	0.561000	0.74099	CGG		0.662	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		3	71	1	0	1	1	1	3	71				
OTUD4	54726	broad.mit.edu	37	4	146059041	146059041	+	Silent	SNP	A	A	G			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr4:146059041A>G	ENST00000447906.2	-	21	3073	c.2886T>C	c.(2884-2886)caT>caC	p.H962H	OTUD4_ENST00000454497.2_Silent_p.H897H|OTUD4_ENST00000455611.2_Intron			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	962					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)					GAGTGGGAGGATGAGCCTTTC	0.478																																						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.(2689-2691)caT>caC		OTU domain containing 4							118.0	118.0	118.0					4																	146059041		2203	4300	6503	SO:0001819	synonymous_variant	54726						protein binding	g.chr4:146059041A>G		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.2886T>C	4.37:g.146059041A>G						OTUD4_ENST00000447906.2_Silent_p.H962H|OTUD4_ENST00000455611.2_Intron	p.H897H	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			21	2828	-	all_hematologic(180;0.151)		961					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Silent	SNP	ENST00000447906.2	37	c.2691T>C																																																																																					0.478	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		3	180	0	0	0	1	0	3	180				
CASC5	57082	broad.mit.edu	37	15	40915989	40915989	+	Missense_Mutation	SNP	G	G	A	rs377752647		TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr15:40915989G>A	ENST00000346991.5	+	11	3995	c.3605G>A	c.(3604-3606)tGt>tAt	p.C1202Y	CASC5_ENST00000399668.2_Missense_Mutation_p.C1176Y			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1202					acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TTCATTGACTGTCAAGCCACA	0.373																																						ENST00000346991.5																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(3604-3606)tGt>tAt		cancer susceptibility candidate 5							52.0	50.0	50.0					15																	40915989		1830	4089	5919	SO:0001583	missense	57082				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr15:40915989G>A	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.3605G>A	15.37:g.40915989G>A	ENSP00000335463:p.Cys1202Tyr					CASC5_ENST00000399668.2_Missense_Mutation_p.C1176Y	p.C1202Y			Q8NG31	CASC5_HUMAN		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	11	3995	+		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	1202					Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	c.3605G>A	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	G	2.178	-0.388296	0.04932	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.27557	1.66;1.66	5.38	2.0	0.26442	.	0.252063	0.28796	N	0.014106	T	0.20941	0.0504	L	0.39397	1.21	0.21325	N	0.999722	B;B;B	0.25667	0.091;0.037;0.131	B;B;B	0.21151	0.032;0.022;0.033	T	0.17806	-1.0357	10	0.66056	D	0.02	.	5.8494	0.18683	0.1451:0.0:0.5599:0.295	.	1176;1202;1176	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	Y	1202;1176;1176	ENSP00000335463:C1202Y;ENSP00000382576:C1176Y	ENSP00000260369:C1176Y	C	+	2	0	CASC5	38703281	1.000000	0.71417	1.000000	0.80357	0.628000	0.37860	1.016000	0.29976	1.230000	0.43646	0.650000	0.86243	TGT		0.373	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		9	40	0	0	0	1	0	9	40				
EPB41L5	57669	broad.mit.edu	37	2	120918486	120918486	+	Missense_Mutation	SNP	T	T	C			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr2:120918486T>C	ENST00000263713.5	+	21	2037	c.1823T>C	c.(1822-1824)cTc>cCc	p.L608P	EPB41L5_ENST00000443902.2_Missense_Mutation_p.L608P|EPB41L5_ENST00000488691.1_3'UTR|EPB41L5_ENST00000452780.1_Missense_Mutation_p.L608P	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	608					actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						AATGTGCCCCTCCCCAAAGAG	0.393																																						ENST00000263713.5																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						c.(1822-1824)cTc>cCc		erythrocyte membrane protein band 4.1 like 5							137.0	143.0	141.0					2																	120918486		2203	4300	6503	SO:0001583	missense	57669					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr2:120918486T>C	AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.1823T>C	2.37:g.120918486T>C	ENSP00000263713:p.Leu608Pro					EPB41L5_ENST00000452780.1_Missense_Mutation_p.L608P|EPB41L5_ENST00000443902.2_Missense_Mutation_p.L608P|EPB41L5_ENST00000488691.1_3'UTR	p.L608P	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN			21	2037	+			608					Q7Z5S1|Q8IZ12|Q9H975	Missense_Mutation	SNP	ENST00000263713.5	37	c.1823T>C	CCDS2130.1	.	.	.	.	.	.	.	.	.	.	T	14.29	2.492300	0.44352	.	.	ENSG00000115109	ENST00000263713;ENST00000443902;ENST00000452780	D;D;D	0.82433	-1.59;-1.61;-1.6	5.4	4.24	0.50183	.	0.824612	0.10499	N	0.667479	T	0.70098	0.3185	L	0.27053	0.805	0.19575	N	0.999969	P;B;B	0.34757	0.467;0.34;0.229	B;B;B	0.30495	0.116;0.116;0.04	T	0.58429	-0.7638	10	0.29301	T	0.29	.	7.4194	0.27063	0.0:0.0962:0.0:0.9038	.	608;608;608	Q9HCM4-3;Q9HCM4-4;Q9HCM4	.;.;E41L5_HUMAN	P	608	ENSP00000263713:L608P;ENSP00000393856:L608P;ENSP00000390439:L608P	ENSP00000263713:L608P	L	+	2	0	EPB41L5	120634956	0.009000	0.17119	0.010000	0.14722	0.551000	0.35334	0.899000	0.28417	2.160000	0.67779	0.533000	0.62120	CTC		0.393	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254230.2	NM_020909		3	167	0	0	0	1	0	3	167				
DTX3	196403	broad.mit.edu	37	12	58002362	58002362	+	Silent	SNP	G	G	A	rs368303983	byFrequency	TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr12:58002362G>A	ENST00000548198.1	+	4	2314	c.810G>A	c.(808-810)ccG>ccA	p.P270P	DTX3_ENST00000548804.1_Silent_p.P270P|DTX3_ENST00000337737.3_Silent_p.P270P|ARHGEF25_ENST00000286494.4_5'Flank|ARHGEF25_ENST00000333972.7_5'Flank|DTX3_ENST00000551632.1_Silent_p.P273P			Q8N9I9	DTX3_HUMAN	deltex 3, E3 ubiquitin ligase	270					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					CCTACCTCCCGGACTGCCCTG	0.617													G|||	2	0.000399361	0.0	0.0	5008	,	,		21884	0.0		0.0	False		,,,				2504	0.002					ENST00000548198.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12						c.(808-810)ccG>ccA		deltex homolog 3 (Drosophila)		G		0,4206		0,0,2103	71.0	75.0	74.0		810	-4.2	1.0	12		74	2,8466		0,2,4232	no	coding-synonymous	DTX3	NM_178502.2		0,2,6335	AA,AG,GG		0.0236,0.0,0.0158		270/348	58002362	2,12672	2103	4234	6337	SO:0001819	synonymous_variant	196403				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr12:58002362G>A	AK094385	CCDS41800.1, CCDS66410.1	12q13.2	2014-01-28	2014-01-28			ENSG00000178498		"""RING-type (C3HC4) zinc fingers"""	24457	protein-coding gene	gene with protein product		613142	"""deltex 3 homolog (Drosophila)"", ""deltex homolog 3 (Drosophila)"""			12670957	Standard	XM_005268697		Approved	FLJ34766, RNF154	uc001sow.1	Q8N9I9		ENST00000548198.1:c.810G>A	12.37:g.58002362G>A						DTX3_ENST00000548804.1_Silent_p.P270P|DTX3_ENST00000551632.1_Silent_p.P273P|DTX3_ENST00000337737.3_Silent_p.P270P	p.P270P			Q8N9I9	DTX3_HUMAN			4	2314	+	Melanoma(17;0.122)		270					Q53ZZ2|Q8NAU6|Q8NDS8	Silent	SNP	ENST00000548198.1	37	c.810G>A	CCDS41800.1																																																																																				0.617	DTX3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407848.1	NM_178502		3	56	0	0	0	1	0	3	56				
SLC7A8	23428	broad.mit.edu	37	14	23652104	23652104	+	Missense_Mutation	SNP	T	T	C			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr14:23652104T>C	ENST00000316902.7	-	1	745	c.20A>G	c.(19-21)cAc>cGc	p.H7R	C14orf164_ENST00000399910.1_5'Flank|SLC7A8_ENST00000469263.1_Missense_Mutation_p.H7R	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	7					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	GTTGTTTCGGTGCCTGGCTCC	0.537																																						ENST00000316902.7																			0				autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24						c.(19-21)cAc>cGc		solute carrier family 7 (amino acid transporter light chain, L system), member 8	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)						140.0	150.0	147.0					14																	23652104		2203	4300	6503	SO:0001583	missense	23428				blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity	g.chr14:23652104T>C	Y18483	CCDS9590.1, CCDS41924.1, CCDS58304.1, CCDS58305.1	14q11.2	2013-05-22	2011-07-12		ENSG00000092068	ENSG00000092068		"""Solute carriers"""	11066	protein-coding gene	gene with protein product		604235				10080183, 10391915	Standard	NM_001267036		Approved	LPI-PC1, LAT2	uc001wiz.4	Q9UHI5	OTTHUMG00000028720	ENST00000316902.7:c.20A>G	14.37:g.23652104T>C	ENSP00000320378:p.His7Arg					SLC7A8_ENST00000469263.1_Missense_Mutation_p.H7R	p.H7R	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN		GBM - Glioblastoma multiforme(265;0.00809)	1	745	-	all_cancers(95;4.6e-05)		7					B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Missense_Mutation	SNP	ENST00000316902.7	37	c.20A>G	CCDS9590.1	.	.	.	.	.	.	.	.	.	.	T	10.92	1.486217	0.26686	.	.	ENSG00000092068	ENST00000316902;ENST00000469263;ENST00000524758;ENST00000525062	D;D;D;D	0.93906	-2.56;-2.89;-2.69;-3.31	5.58	5.58	0.84498	.	1.742010	0.02748	N	0.117153	D	0.86389	0.5921	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.65471	-0.6160	10	0.15066	T	0.55	.	9.0661	0.36465	0.1637:0.0:0.0:0.8362	.	7;7	E9PLV9;Q9UHI5	.;LAT2_HUMAN	R	7	ENSP00000320378:H7R;ENSP00000435114:H7R;ENSP00000434352:H7R;ENSP00000436665:H7R	ENSP00000320378:H7R	H	-	2	0	SLC7A8	22721944	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	2.031000	0.41117	2.118000	0.64928	0.459000	0.35465	CAC		0.537	SLC7A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071718.3			6	186	0	0	0	1	0	6	186				
LYPD6B	130576	broad.mit.edu	37	2	150071135	150071135	+	Missense_Mutation	SNP	G	G	A	rs373317284		TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr2:150071135G>A	ENST00000409029.1	+	7	665	c.463G>A	c.(463-465)Gta>Ata	p.V155I	LYPD6B_ENST00000409876.1_Missense_Mutation_p.V155I|LYPD6B_ENST00000280115.7_Missense_Mutation_p.V179I|LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000409642.3_Missense_Mutation_p.V179I			Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B	155						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						AGTGTTTGCCGTAATGCACGC	0.483																																						ENST00000409642.3																			0				endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(535-537)Gta>Ata		LY6/PLAUR domain containing 6B		G	ILE/VAL	0,4126		0,0,2063	176.0	176.0	176.0		535	0.9	0.0	2		176	1,8403		0,1,4201	no	missense	LYPD6B	NM_177964.3	29	0,1,6264	AA,AG,GG		0.0119,0.0,0.0080	benign	179/208	150071135	1,12529	2063	4202	6265	SO:0001583	missense	130576					anchored to membrane|plasma membrane		g.chr2:150071135G>A		CCDS46423.1	2q23.2	2012-07-20			ENSG00000150556	ENSG00000150556			27018	protein-coding gene	gene with protein product	"""cancer/testis antigen 116"""					18360792	Standard	NM_177964		Approved	CT116, LYPD7	uc002twv.1	Q8NI32	OTTHUMG00000153743	ENST00000409029.1:c.463G>A	2.37:g.150071135G>A	ENSP00000386650:p.Val155Ile					LYPD6B_ENST00000409029.1_Missense_Mutation_p.V155I|LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000409876.1_Missense_Mutation_p.V155I|LYPD6B_ENST00000280115.7_Missense_Mutation_p.V179I	p.V179I	NM_177964.3	NP_808879.2	Q8NI32	LPD6B_HUMAN			7	936	+			155					D3DP90|Q53TK0|Q7Z747|Q8IXK7	Missense_Mutation	SNP	ENST00000409029.1	37	c.535G>A		.	.	.	.	.	.	.	.	.	.	G	10.06	1.245572	0.22796	0.0	1.19E-4	ENSG00000150556	ENST00000409642;ENST00000409876;ENST00000409029;ENST00000280115	T;T;T;T	0.16597	2.33;2.33;2.33;2.33	5.78	0.937	0.19494	.	0.357652	0.26983	N	0.021502	T	0.11922	0.0290	L	0.35723	1.085	0.09310	N	1	B;B	0.21821	0.035;0.061	B;B	0.16722	0.01;0.016	T	0.28586	-1.0039	9	.	.	.	-22.7644	10.208	0.43124	0.3397:0.0:0.6603:0.0	.	155;179	Q8NI32;Q8NI32-2	LPD6B_HUMAN;.	I	179;155;155;179	ENSP00000387077:V179I;ENSP00000386479:V155I;ENSP00000386650:V155I;ENSP00000280115:V179I	.	V	+	1	0	LYPD6B	149779381	0.832000	0.29368	0.002000	0.10522	0.186000	0.23388	1.506000	0.35747	0.113000	0.18004	-1.871000	0.00553	GTA		0.483	LYPD6B-003	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000332299.2	NM_177964		4	189	0	0	0	1	0	4	189				
OTUD4	54726	broad.mit.edu	37	4	146058891	146058891	+	Silent	SNP	A	A	C			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr4:146058891A>C	ENST00000447906.2	-	21	3223	c.3036T>G	c.(3034-3036)gtT>gtG	p.V1012V	OTUD4_ENST00000454497.2_Silent_p.V947V|OTUD4_ENST00000455611.2_Intron			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	1012					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)					CTCTGCTATCAACAGAGTTGG	0.388																																						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.(2839-2841)gtT>gtG		OTU domain containing 4							142.0	149.0	146.0					4																	146058891		2203	4299	6502	SO:0001819	synonymous_variant	54726						protein binding	g.chr4:146058891A>C		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.3036T>G	4.37:g.146058891A>C						OTUD4_ENST00000447906.2_Silent_p.V1012V|OTUD4_ENST00000455611.2_Intron	p.V947V	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			21	2978	-	all_hematologic(180;0.151)		1011					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Silent	SNP	ENST00000447906.2	37	c.2841T>G																																																																																					0.388	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		3	166	0	0	0	1	0	3	166				
CHD7	55636	broad.mit.edu	37	8	61777895	61777895	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr8:61777895G>A	ENST00000423902.2	+	38	8876	c.8397G>A	c.(8395-8397)atG>atA	p.M2799I	CHD7_ENST00000524602.1_Missense_Mutation_p.M750I	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2799					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)			TGCCCCTGATGCTGCCAGGAA	0.622																																						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.(8395-8397)atG>atA		chromodomain helicase DNA binding protein 7							27.0	28.0	28.0					8																	61777895		2022	4189	6211	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.chr8:61777895G>A	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.8397G>A	8.37:g.61777895G>A	ENSP00000392028:p.Met2799Ile					CHD7_ENST00000524602.1_Missense_Mutation_p.M750I	p.M2799I	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		38	8876	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	2799					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.8397G>A	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.823468	0.71143	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000524602	D;T	0.82711	-1.64;1.93	5.14	5.14	0.70334	.	0.112500	0.64402	D	0.000018	T	0.81964	0.4934	L	0.61218	1.895	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.77566	-0.2540	10	0.36615	T	0.2	-7.9773	18.5845	0.91183	0.0:0.0:1.0:0.0	.	2799	Q9P2D1	CHD7_HUMAN	I	2799;2799;750	ENSP00000392028:M2799I;ENSP00000437061:M750I	ENSP00000307304:M2799I	M	+	3	0	CHD7	61940449	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.205000	0.95048	2.373000	0.80994	0.591000	0.81541	ATG		0.622	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		3	14	0	0	0	1	0	3	14				
CUL3	8452	broad.mit.edu	37	2	225370686	225370686	+	Missense_Mutation	SNP	T	T	C			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr2:225370686T>C	ENST00000264414.4	-	8	1531	c.1193A>G	c.(1192-1194)aAg>aGg	p.K398R	CUL3_ENST00000409777.1_Missense_Mutation_p.K374R|CUL3_ENST00000344951.4_Missense_Mutation_p.K332R|CUL3_ENST00000409096.1_Missense_Mutation_p.K374R	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	398					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TTTGACTCCCTTTTTCAGCTT	0.294																																						ENST00000264414.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46						c.(1192-1194)aAg>aGg		cullin 3							69.0	69.0	69.0					2																	225370686		2203	4300	6503	SO:0001583	missense	8452				cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	g.chr2:225370686T>C	U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.1193A>G	2.37:g.225370686T>C	ENSP00000264414:p.Lys398Arg					CUL3_ENST00000409096.1_Missense_Mutation_p.K374R|CUL3_ENST00000344951.4_Missense_Mutation_p.K332R|CUL3_ENST00000409777.1_Missense_Mutation_p.K374R	p.K398R	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)	8	1531	-		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)	398					A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	ENST00000264414.4	37	c.1193A>G	CCDS2462.1	.	.	.	.	.	.	.	.	.	.	T	17.44	3.390529	0.62066	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	5.63	5.63	0.86233	Cullin, N-terminal (1);Cullin homology (2);	0.000000	0.85682	D	0.000000	T	0.77968	0.4210	L	0.58925	1.835	0.80722	D	1	P;P;P	0.39131	0.661;0.579;0.579	B;B;B	0.42593	0.2;0.392;0.392	T	0.76852	-0.2806	10	0.34782	T	0.22	.	16.1413	0.81528	0.0:0.0:0.0:1.0	.	332;376;398	Q13618-3;Q53S54;Q13618	.;.;CUL3_HUMAN	R	398;332;374;374	ENSP00000264414:K398R;ENSP00000343601:K332R;ENSP00000387200:K374R;ENSP00000386525:K374R	ENSP00000264414:K398R	K	-	2	0	CUL3	225078930	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.655000	0.83696	2.270000	0.75569	0.482000	0.46254	AAG		0.294	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			3	63	0	0	0	1	0	3	63				
PSAP	5660	broad.mit.edu	37	10	73574941	73574941	+	IGR	SNP	A	A	C			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr10:73574941A>C	ENST00000394936.3	-	0	2866				CDH23_ENST00000398788.3_Missense_Mutation_p.E1084A|CDH23_ENST00000224721.6_Missense_Mutation_p.E3329A|CDH23_ENST00000475158.1_3'UTR			P07602	SAP_HUMAN	prosaposin						blood coagulation (GO:0007596)|cellular response to organic substance (GO:0071310)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|glycosphingolipid metabolic process (GO:0006687)|lipid transport (GO:0006869)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catalytic activity (GO:0043085)|prostate gland growth (GO:0060736)|regulation of lipid metabolic process (GO:0019216)|regulation of MAPK cascade (GO:0043408)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|lipid binding (GO:0008289)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						ACTGCCTTCGAGCGCAACGCC	0.642																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(9985-9987)gAg>gCg		cadherin-related 23							20.0	27.0	25.0					10																	73574941		2162	4248	6410	SO:0001628	intergenic_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73574941A>C	BC004275	CCDS7311.1	10q21-q22	2014-01-30	2008-07-31		ENSG00000197746	ENSG00000197746		"""Endogenous ligands"""	9498	protein-coding gene	gene with protein product	"""variant Gaucher disease and variant metachromatic leukodystrophy"""	176801	"""sphingolipid activator protein-1"""	SAP1, GLBA		2717620	Standard	NM_001042465		Approved		uc001jsm.3	P07602	OTTHUMG00000018429		10.37:g.73574941A>C						CDH23_ENST00000398788.3_Missense_Mutation_p.E1084A|CDH23_ENST00000475158.1_3'UTR	p.E3329A	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			69	9991	+			3324					P07292|P15793|P78538|P78541|P78546|P78547|P78558|Q53Y86|Q6IBQ6|Q92739|Q92740|Q92741|Q92742	Missense_Mutation	SNP	ENST00000394936.3	37	c.9986A>C	CCDS7311.1	.	.	.	.	.	.	.	.	.	.	A	19.03	3.748419	0.69533	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.80304	-1.36	5.14	5.14	0.70334	.	0.065602	0.64402	D	0.000012	D	0.83862	0.5346	L	0.29908	0.895	0.52099	D	0.999947	B;D;P;P	0.61697	0.323;0.99;0.792;0.792	B;D;B;B	0.72982	0.073;0.979;0.257;0.257	D	0.86036	0.1516	10	0.72032	D	0.01	.	14.9831	0.71327	1.0:0.0:0.0:0.0	.	186;221;3289;3324	Q5QGS5;Q5QGS6;E9PEX1;Q9H251	.;.;.;CAD23_HUMAN	A	3329;3289;3327;1084	ENSP00000381768:E1084A	ENSP00000224721:E3329A	E	+	2	0	CDH23	73244947	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.580000	0.90784	1.954000	0.56735	0.533000	0.62120	GAG		0.642	PSAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048553.1	NM_002778		4	16	0	0	0	1	0	4	16				
FCGR2A	2212	broad.mit.edu	37	1	161479821	161479821	+	Silent	SNP	C	C	A	rs368752463		TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr1:161479821C>A	ENST00000271450.6	+	4	614	c.576C>A	c.(574-576)ggC>ggA	p.G192G	FCGR2A_ENST00000367972.4_Silent_p.G191G	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	192	Ig-like C2-type 2.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GAAACATAGGCTACACGCTGT	0.512																																						ENST00000271450.6																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19						c.(574-576)ggC>ggA		Fc fragment of IgG, low affinity IIa, receptor (CD32)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						118.0	101.0	107.0					1																	161479821		2203	4300	6503	SO:0001819	synonymous_variant	2212					integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161479821C>A	J03619	CCDS30922.1, CCDS44264.1	1q23	2013-01-11	2005-02-02		ENSG00000143226	ENSG00000143226		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3616	protein-coding gene	gene with protein product	"""Immunoglobulin G Fc receptor II"""	146790	"""Fc fragment of IgG, low affinity IIa, receptor for (CD32)"""	FCG2, FCGR2A1, FCGR2		2139735	Standard	NM_021642		Approved	CD32, CD32A, IGFR2, CDw32	uc001gan.3	P12318	OTTHUMG00000034469	ENST00000271450.6:c.576C>A	1.37:g.161479821C>A						FCGR2A_ENST00000367972.4_Silent_p.G191G|FCGR2A_ENST00000467525.1_3'UTR	p.G192G	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		4	614	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		192			Ig-like C2-type 2.		Q8WUN1|Q8WW64	Silent	SNP	ENST00000271450.6	37	c.576C>A	CCDS44264.1																																																																																				0.512	FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083318.3	NM_021642		12	89	1	0	7.93312e-07	1	8.96788e-07	12	89				
ZAP70	7535	broad.mit.edu	37	2	98351131	98351131	+	Silent	SNP	C	C	T			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr2:98351131C>T	ENST00000264972.5	+	9	1253	c.1038C>T	c.(1036-1038)tgC>tgT	p.C346C	ZAP70_ENST00000442208.1_Silent_p.C220C|ZAP70_ENST00000451498.2_Silent_p.C39C|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	346	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						AACTTGGCTGCGGCAACTTTG	0.627																																						ENST00000264972.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						c.(1036-1038)tgC>tgT		zeta-chain (TCR) associated protein kinase 70kDa							150.0	127.0	135.0					2																	98351131		2203	4300	6503	SO:0001819	synonymous_variant	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98351131C>T	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1038C>T	2.37:g.98351131C>T						ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Silent_p.C39C|ZAP70_ENST00000442208.1_Silent_p.C220C	p.C346C	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN			9	1253	+			346			Protein kinase.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Silent	SNP	ENST00000264972.5	37	c.1038C>T	CCDS33254.1																																																																																				0.627	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			35	136	0	0	0	1	0	35	136				
GABRB1	2560	broad.mit.edu	37	4	47427856	47427856	+	Missense_Mutation	SNP	C	C	T			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr4:47427856C>T	ENST00000295454.3	+	9	1538	c.1246C>T	c.(1246-1248)Cgc>Tgc	p.R416C	GABRB1_ENST00000538619.1_Missense_Mutation_p.R346C	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	416					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGCCTACGGGCGCGCCCTGGA	0.642																																						ENST00000295454.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1246-1248)Cgc>Tgc		gamma-aminobutyric acid (GABA) A receptor, beta 1	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						40.0	46.0	44.0					4																	47427856		2203	4299	6502	SO:0001583	missense	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47427856C>T		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.1246C>T	4.37:g.47427856C>T	ENSP00000295454:p.Arg416Cys					GABRB1_ENST00000538619.1_Missense_Mutation_p.R346C	p.R416C	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN			9	1538	+			416					B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	c.1246C>T	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.593133	0.28357	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	D;D	0.85861	-2.04;-2.04	5.38	5.38	0.77491	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.222175	0.37715	N	0.001962	D	0.90212	0.6940	M	0.81802	2.56	0.58432	D	0.999999	D;D	0.71674	0.998;0.996	P;P	0.57776	0.827;0.567	D	0.90597	0.4541	10	0.62326	D	0.03	-8.6877	11.9948	0.53196	0.287:0.713:0.0:0.0	.	346;416	F5GXV5;P18505	.;GBRB1_HUMAN	C	416;346	ENSP00000295454:R416C;ENSP00000440330:R346C	ENSP00000295454:R416C	R	+	1	0	GABRB1	47122613	0.999000	0.42202	0.993000	0.49108	0.039000	0.13416	2.371000	0.44248	2.803000	0.96430	0.650000	0.86243	CGC		0.642	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			8	28	0	0	0	1	0	8	28				
TMEFF2	23671	broad.mit.edu	37	2	192863886	192863886	+	Silent	SNP	G	G	A			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr2:192863886G>A	ENST00000272771.5	-	6	1769	c.585C>T	c.(583-585)tgC>tgT	p.C195C	TMEFF2_ENST00000487771.1_5'UTR|TMEFF2_ENST00000392314.1_Silent_p.C195C|AC098617.1_ENST00000424116.2_RNA|AC098617.1_ENST00000428980.2_RNA	NM_016192.2	NP_057276.2	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	195	Kazal-like 2. {ECO:0000255|PROSITE- ProRule:PRU00798}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			CATCAGAAGCGCAGAGGGGAT	0.373																																					Pancreas(50;1277 1381 28487 47072)	ENST00000392314.1																			0				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(583-585)tgC>tgT		transmembrane protein with EGF-like and two follistatin-like domains 2							124.0	116.0	119.0					2																	192863886		2203	4299	6502	SO:0001819	synonymous_variant	23671					extracellular region|integral to membrane		g.chr2:192863886G>A	AB017269	CCDS2314.1	2q32.3	2010-05-04			ENSG00000144339	ENSG00000144339			11867	protein-coding gene	gene with protein product	"""transmembrane protein TENB2"", ""tomoregulin"", ""cancer/testis antigen family 120, member 2"""	605734				10903839	Standard	NM_016192		Approved	TENB2, HPP1, TR, TPEF, CT120.2	uc002utc.3	Q9UIK5	OTTHUMG00000132723	ENST00000272771.5:c.585C>T	2.37:g.192863886G>A						AC098617.1_ENST00000428980.2_RNA|TMEFF2_ENST00000272771.5_Silent_p.C195C|TMEFF2_ENST00000487771.1_5'UTR|AC098617.1_ENST00000424116.2_RNA	p.C195C			Q9UIK5	TEFF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0835)		6	976	-			195			Kazal-like 2.		Q2FA44|Q4ZFW4|Q53H90|Q53RE1|Q8N2R5|Q9NR15|Q9NSS5|Q9P2Y9|Q9UK65	Silent	SNP	ENST00000272771.5	37	c.585C>T	CCDS2314.1																																																																																				0.373	TMEFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256065.2	NM_016192		14	72	0	0	0	1	0	14	72				
FLG2	388698	broad.mit.edu	37	1	152324407	152324407	+	Missense_Mutation	SNP	C	C	G			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr1:152324407C>G	ENST00000388718.5	-	3	5927	c.5855G>C	c.(5854-5856)gGa>gCa	p.G1952A	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1952					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGGCCAGATCCCCTTCTTCC	0.527																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(5854-5856)gGa>gCa		filaggrin family member 2							326.0	307.0	313.0					1																	152324407		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152324407C>G	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5855G>C	1.37:g.152324407C>G	ENSP00000373370:p.Gly1952Ala					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.G1952A	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5927	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1952					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.5855G>C	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	c	1.767	-0.485355	0.04352	.	.	ENSG00000143520	ENST00000388718	T	0.04360	3.64	3.91	-3.47	0.04753	.	.	.	.	.	T	0.01222	0.0040	L	0.59436	1.845	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48305	-0.9047	9	0.10377	T	0.69	0.2959	6.2752	0.20977	0.0:0.2193:0.4883:0.2924	.	1952	Q5D862	FILA2_HUMAN	A	1952	ENSP00000373370:G1952A	ENSP00000373370:G1952A	G	-	2	0	FLG2	150591031	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-1.819000	0.01716	-0.486000	0.06744	-0.371000	0.07208	GGA		0.527	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		4	347	0	0	0	1	0	4	347				
CFTR	1080	broad.mit.edu	37	7	117243692	117243692	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr7:117243692G>A	ENST00000003084.6	+	17	2896	c.2764G>A	c.(2764-2766)Gta>Ata	p.V922I	AC000111.6_ENST00000456270.1_RNA|CFTR_ENST00000454343.1_Missense_Mutation_p.V861I	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	922	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	TTACGTGGGAGTAGCCGACAC	0.393									Cystic Fibrosis																													ENST00000003084.6																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	GRCh37	CI972572	CFTR	I		c.(2764-2766)Gta>Ata		cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	Bumetanide(DB00887)|Glibenclamide(DB01016)						213.0	183.0	194.0					7																	117243692		2203	4300	6503	SO:0001583	missense	1080	Cystic Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117243692G>A	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.2764G>A	7.37:g.117243692G>A	ENSP00000003084:p.Val922Ile					CFTR_ENST00000454343.1_Missense_Mutation_p.V861I	p.V922I	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		17	2896	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		922			ABC transmembrane type-1 2.		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	c.2764G>A	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.881113	0.33255	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.94232	-3.38;-3.38;-3.38	5.64	3.84	0.44239	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.415672	0.29106	N	0.013140	D	0.82829	0.5122	N	0.10733	0.035	0.31616	N	0.650951	B	0.02656	0.0	B	0.12837	0.008	T	0.72603	-0.4243	10	0.08179	T	0.78	-12.32	11.4187	0.49967	0.2028:0.0:0.7972:0.0	.	922	P13569	CFTR_HUMAN	I	922;861;892	ENSP00000003084:V922I;ENSP00000403677:V861I;ENSP00000389119:V892I	ENSP00000003084:V922I	V	+	1	0	CFTR	117030928	1.000000	0.71417	0.996000	0.52242	0.940000	0.58332	1.517000	0.35867	0.746000	0.32786	0.585000	0.79938	GTA		0.393	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		3	109	0	0	0	1	0	3	109				
VPS13C	54832	broad.mit.edu	37	15	62320582	62320582	+	Silent	SNP	G	G	A			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr15:62320582G>A	ENST00000261517.5	-	6	496	c.423C>T	c.(421-423)aaC>aaT	p.N141N	VPS13C_ENST00000249837.3_Intron|VPS13C_ENST00000395896.4_Silent_p.N141N|VPS13C_ENST00000395898.3_Intron	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TGTAAACAAAGTTCTCCAAGC	0.388																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(421-423)aaC>aaT		vacuolar protein sorting 13 homolog C (S. cerevisiae)							87.0	82.0	84.0					15																	62320582		2203	4300	6503	SO:0001819	synonymous_variant	54832				protein localization			g.chr15:62320582G>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.423C>T	15.37:g.62320582G>A						VPS13C_ENST00000395896.4_Silent_p.N141N|VPS13C_ENST00000249837.3_Intron|VPS13C_ENST00000395898.3_Intron	p.N141N	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			6	496	-			141						Silent	SNP	ENST00000261517.5	37	c.423C>T	CCDS32257.1																																																																																				0.388	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		13	105	0	0	0	1	0	13	105				
EPHA7	2045	broad.mit.edu	37	6	94120325	94120325	+	Silent	SNP	C	C	T	rs148725762		TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr6:94120325C>T	ENST00000369303.4	-	3	910	c.726G>A	c.(724-726)gcG>gcA	p.A242A	EPHA7_ENST00000369297.1_Silent_p.A242A	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	242	Cys-rich.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GGGCGTTTTCCGCTTCTTCCT	0.473																																						ENST00000369303.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112						c.(724-726)gcG>gcA		EPH receptor A7		C		0,4406		0,0,2203	91.0	90.0	90.0		726	-4.1	1.0	6	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	EPHA7	NM_004440.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		242/999	94120325	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:94120325C>T	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.726G>A	6.37:g.94120325C>T						EPHA7_ENST00000369297.1_Silent_p.A242A	p.A242A	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	3	910	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	242			Cys-rich.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Silent	SNP	ENST00000369303.4	37	c.726G>A	CCDS5031.1																																																																																				0.473	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			6	45	0	0	0	1	0	6	45				
ZNF146	7705	broad.mit.edu	37	19	36728180	36728180	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr19:36728180A>T	ENST00000443387.2	+	4	1830	c.838A>T	c.(838-840)Aag>Tag	p.K280*	ZNF565_ENST00000355114.5_Intron|ZNF146_ENST00000456324.1_Nonsense_Mutation_p.K280*	NM_007145.2	NP_009076.2	Q15072	OZF_HUMAN	zinc finger protein 146	280	Interaction with TERF2IP.				regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					TTTCAGCCAGAAGTCACACCA	0.413																																						ENST00000456324.1																			0				kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(838-840)Aag>Tag		zinc finger protein 146							63.0	58.0	60.0					19																	36728180		2203	4300	6503	SO:0001587	stop_gained	7705				regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding	g.chr19:36728180A>T	X70394	CCDS12492.1	19q13.1	2013-01-08				ENSG00000167635		"""Zinc fingers, C2H2-type"""	12931	protein-coding gene	gene with protein product		601505				10449921, 8641144	Standard	NM_001099639		Approved	OZF	uc010eeu.3	Q15072		ENST00000443387.2:c.838A>T	19.37:g.36728180A>T	ENSP00000392095:p.Lys280*					ZNF146_ENST00000443387.2_Nonsense_Mutation_p.K280*|ZNF565_ENST00000355114.5_Intron	p.K280*	NM_001099638.1|NM_001099639.1	NP_001093108.1|NP_001093109.1	Q15072	OZF_HUMAN			3	2287	+	Esophageal squamous(110;0.162)		280			Interaction with TERF2IP.		Q2TB94	Nonsense_Mutation	SNP	ENST00000443387.2	37	c.838A>T	CCDS12492.1	.	.	.	.	.	.	.	.	.	.	A	48	14.576353	0.99801	.	.	ENSG00000167635	ENST00000443387;ENST00000456324	.	.	.	4.48	4.48	0.54585	.	0.000000	0.42053	D	0.000779	.	.	.	.	.	.	0.37684	D	0.923604	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-10.969	8.5933	0.33701	0.9088:0.0:0.0911:0.0	.	.	.	.	X	280	.	ENSP00000392095:K280X	K	+	1	0	ZNF146	41420020	0.001000	0.12720	1.000000	0.80357	0.989000	0.77384	1.706000	0.37878	2.242000	0.73789	0.459000	0.35465	AAG		0.413	ZNF146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451706.1	NM_007145		5	44	0	0	0	1	0	5	44				
ZNF578	147660	broad.mit.edu	37	19	53014710	53014710	+	Missense_Mutation	SNP	G	G	C			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr19:53014710G>C	ENST00000421239.2	+	6	1320	c.1076G>C	c.(1075-1077)aGa>aCa	p.R359T	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	359					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TCATCCCTTAGATGCCATCGT	0.388																																						ENST00000421239.2																			0											c.(1075-1077)aGa>aCa		zinc finger protein 578							111.0	116.0	115.0					19																	53014710		2203	4299	6502	SO:0001583	missense	147660				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53014710G>C	AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.1076G>C	19.37:g.53014710G>C	ENSP00000459216:p.Arg359Thr					CTD-3099C6.5_ENST00000599143.1_RNA	p.R359T	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN		GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)	6	1320	+			134					B4DR51|I3L1Y6	Missense_Mutation	SNP	ENST00000421239.2	37	c.1076G>C	CCDS54310.1	.	.	.	.	.	.	.	.	.	.	-	0.004	-2.245049	0.00271	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.48	-2.97	0.05530	.	.	.	.	.	T	0.22820	0.0551	N	0.20807	0.61	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.24835	-1.0149	7	.	.	.	.	8.39	0.32522	0.0:0.5274:0.4726:0.0	.	359	G3V4F6	.	T	359	.	.	R	+	2	0	ZNF578	57706522	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-4.880000	0.00174	-0.575000	0.05982	-0.989000	0.02550	AGA		0.388	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	NM_152472		3	126	0	0	0	1	0	3	126				
FAM122A	116224	broad.mit.edu	37	9	71395167	71395167	+	Silent	SNP	C	C	G			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr9:71395167C>G	ENST00000394264.3	+	1	204	c.87C>G	c.(85-87)ggC>ggG	p.G29G	PIP5K1B_ENST00000541509.1_Intron|PIP5K1B_ENST00000265382.3_Intron	NM_138333.3	NP_612206.3	Q96E09	F122A_HUMAN	family with sequence similarity 122A	29	Poly-Gly.									endometrium(1)|lung(2)	3						GCGGCGGCGGCGGGGGCCTCA	0.721																																						ENST00000394264.3																			0				endometrium(1)|lung(2)	3						c.(85-87)ggC>ggG		family with sequence similarity 122A							6.0	9.0	8.0					9																	71395167		1947	3946	5893	SO:0001819	synonymous_variant	116224							g.chr9:71395167C>G	AK126379	CCDS6623.1	9q21.13	2011-02-10	2006-07-11	2006-07-11	ENSG00000187866	ENSG00000187866			23490	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 42"""	C9orf42		12477932	Standard	NM_138333		Approved	MGC17347	uc004agw.1	Q96E09	OTTHUMG00000019971	ENST00000394264.3:c.87C>G	9.37:g.71395167C>G						PIP5K1B_ENST00000265382.3_Intron|PIP5K1B_ENST00000541509.1_Intron	p.G29G	NM_138333.3	NP_612206.3	Q96E09	F122A_HUMAN			1	204	+			29			Poly-Gly.			Silent	SNP	ENST00000394264.3	37	c.87C>G	CCDS6623.1																																																																																				0.721	FAM122A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052556.1	NM_138333		2	11	0	0	0	1	0	2	11				
DST	667	broad.mit.edu	37	6	56470845	56470845	+	Missense_Mutation	SNP	C	C	G			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr6:56470845C>G	ENST00000361203.3	-	36	7955	c.7948G>C	c.(7948-7950)Gat>Cat	p.D2650H	DST_ENST00000370754.5_Missense_Mutation_p.D2828H|DST_ENST00000312431.6_Missense_Mutation_p.D2650H|DST_ENST00000370769.4_Missense_Mutation_p.D2650H|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Missense_Mutation_p.D2324H			Q03001	DYST_HUMAN	dystonin	2650					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGCATTTTATCCAGAAGAATC	0.328																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(8482-8484)Gat>Cat		dystonin							118.0	114.0	115.0					6																	56470845		1823	4080	5903	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56470845C>G	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.7948G>C	6.37:g.56470845C>G	ENSP00000354508:p.Asp2650His					DST_ENST00000312431.6_Missense_Mutation_p.D2650H|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.D2324H|DST_ENST00000361203.3_Missense_Mutation_p.D2650H|DST_ENST00000370769.4_Missense_Mutation_p.D2650H	p.D2828H			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		39	8481	-	Lung NSC(77;0.103)		2650					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.8482G>C		.	.	.	.	.	.	.	.	.	.	C	13.50	2.256704	0.39896	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	T;T;T;D;T;T	0.82711	-0.15;-0.16;0.79;-1.64;-0.16;-0.45	5.39	1.4	0.22301	.	1.008340	0.07967	N	0.983421	T	0.72684	0.3491	.	.	.	0.29614	N	0.846731	D	0.58268	0.982	P	0.50378	0.639	T	0.60131	-0.7323	8	0.56958	D	0.05	.	4.9388	0.13954	0.147:0.6091:0.0:0.2439	.	2324	Q03001-9	.	H	2828;2650;2324;2650;2650;2324	ENSP00000359790:D2828H;ENSP00000359805:D2650H;ENSP00000393645:D2324H;ENSP00000307959:D2650H;ENSP00000354508:D2650H;ENSP00000404924:D2324H	ENSP00000307959:D2650H	D	-	1	0	DST	56578804	0.000000	0.05858	0.000000	0.03702	0.209000	0.24338	0.376000	0.20535	0.356000	0.24157	0.400000	0.26472	GAT		0.328	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		7	64	0	0	0	1	0	7	64				
SCN10A	6336	broad.mit.edu	37	3	38766807	38766807	+	Splice_Site	SNP	T	T	C			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr3:38766807T>C	ENST00000449082.2	-	17	3087		c.e17-2			NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit						AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CTGCTCCTGCTAGTGAGAGAG	0.582																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.e17-2		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						47.0	42.0	44.0					3																	38766807		2203	4300	6503	SO:0001630	splice_region_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38766807T>C	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.3088-2A>G	3.37:g.38766807T>C								NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	17	3087	-								A6NDQ1	Splice_Site	SNP	ENST00000449082.2	37		CCDS33736.1	.	.	.	.	.	.	.	.	.	.	T	11.88	1.771639	0.31320	.	.	ENSG00000185313	ENST00000449082	.	.	.	4.38	1.83	0.25207	.	.	.	.	.	.	.	.	.	.	.	0.49299	D	0.999778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.2116	0.25937	0.3578:0.0:0.0:0.6422	.	.	.	.	.	-1	.	.	.	-	.	.	SCN10A	38741811	0.002000	0.14202	0.303000	0.25071	0.650000	0.38633	0.158000	0.16422	0.261000	0.21753	0.454000	0.30748	.		0.582	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514	Intron	7	28	0	0	0	1	0	7	28				
CMYA5	202333	broad.mit.edu	37	5	79058905	79058905	+	Missense_Mutation	SNP	C	C	A			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr5:79058905C>A	ENST00000446378.2	+	9	11459	c.11428C>A	c.(11428-11430)Cgc>Agc	p.R3810S	CMYA5_ENST00000505466.1_3'UTR	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3810	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.			APSTPVIRAEDCTVCWNTAT -> GKEMDAKGALEDNAQFF TDS (in Ref. 2; CAD91143). {ECO:0000305}.	negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CCCTGTGATCCGCGCTGAGGA	0.587																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(11428-11430)Cgc>Agc		cardiomyopathy associated 5							52.0	54.0	54.0					5																	79058905		2101	4230	6331	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79058905C>A	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.11428C>A	5.37:g.79058905C>A	ENSP00000394770:p.Arg3810Ser					CMYA5_ENST00000505466.1_3'UTR	p.R3810S	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	9	11459	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	3810	APSTPVIRAEDCTVCWNTAT -> GKEMDAKGALEDNAQFF TDS (in Ref. 2; CAD91143).		Fibronectin type-III 2.		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.11428C>A	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	C	7.853	0.724432	0.15439	.	.	ENSG00000164309	ENST00000446378	T	0.51817	0.69	5.64	1.46	0.22682	Fibronectin, type III (3);	.	.	.	.	T	0.30727	0.0774	L	0.27053	0.805	0.09310	N	1	B	0.25809	0.135	B	0.22601	0.04	T	0.19451	-1.0305	9	0.46703	T	0.11	.	5.776	0.18279	0.2369:0.6367:0.0:0.1264	.	3810	Q8N3K9	CMYA5_HUMAN	S	3810	ENSP00000394770:R3810S	ENSP00000394770:R3810S	R	+	1	0	CMYA5	79094661	0.434000	0.25570	0.001000	0.08648	0.045000	0.14185	1.669000	0.37492	0.324000	0.23333	0.655000	0.94253	CGC		0.587	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		3	82	1	0	1	1	1	3	82				
ANKRD36	375248	broad.mit.edu	37	2	97847365	97847368	+	Splice_Site	DEL	TAAT	TAAT	-	rs375413411		TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr2:97847365_97847368delTAAT	ENST00000461153.2	+	25	2008		c.e25+2		ANKRD36_ENST00000420699.2_Splice_Site			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36											endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GCTGAGAAGGTAATTAAAGTCTCA	0.314																																						ENST00000420699.2																			0				endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.e25+2		ankyrin repeat domain 36																																				SO:0001630	splice_region_variant	375248							g.chr2:97847365_97847368delTAAT	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.1764+2TAAT>-	2.37:g.97847365_97847368delTAAT						ANKRD36_ENST00000461153.2_Splice_Site		NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN			25	2008	+								B4E3I8|Q6UX02|Q86X62|Q9HCD1	Splice_Site	DEL	ENST00000461153.2	37		CCDS54379.1																																																																																				0.314	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5		Intron	6	13						6	13	---	---	---	---
FGF10	2255	broad.mit.edu	37	5	44388715	44388717	+	In_Frame_Del	DEL	AGC	AGC	-	rs576181814		TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr5:44388715_44388717delAGC	ENST00000264664.4	-	1	182_184	c.68_70delGCT	c.(67-72)tgcttt>ttt	p.C23del	RP11-473L15.2_ENST00000502457.1_RNA	NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	23					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchiole morphogenesis (GO:0060436)|bud elongation involved in lung branching (GO:0060449)|bud outgrowth involved in lung branching (GO:0060447)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell migration (GO:0010631)|epithelial cell proliferation (GO:0050673)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|ERK1 and ERK2 cascade (GO:0070371)|establishment of mitotic spindle orientation (GO:0000132)|Fc-epsilon receptor signaling pathway (GO:0038095)|female genitalia morphogenesis (GO:0048807)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|hair follicle morphogenesis (GO:0031069)|Harderian gland development (GO:0070384)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte proliferation (GO:0043616)|lacrimal gland development (GO:0032808)|limb bud formation (GO:0060174)|lung epithelium development (GO:0060428)|lung proximal/distal axis specification (GO:0061115)|lung saccule development (GO:0060430)|male genitalia morphogenesis (GO:0048808)|mammary gland bud formation (GO:0060615)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal-epithelial cell signaling involved in lung development (GO:0060496)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|metanephros morphogenesis (GO:0003338)|muscle cell fate commitment (GO:0042693)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|pancreas development (GO:0031016)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of ATPase activity (GO:0032781)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urothelial cell proliferation (GO:0050677)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of white fat cell proliferation (GO:0070352)|prostatic bud formation (GO:0060513)|protein localization to cell surface (GO:0034394)|radial glial cell differentiation (GO:0060019)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of saliva secretion (GO:0046877)|regulation of smoothened signaling pathway (GO:0008589)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|salivary gland development (GO:0007431)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|semicircular canal fusion (GO:0060879)|smooth muscle cell differentiation (GO:0051145)|somatic stem cell maintenance (GO:0035019)|spleen development (GO:0048536)|submandibular salivary gland formation (GO:0060661)|tear secretion (GO:0070075)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tissue regeneration (GO:0042246)|Type II pneumocyte differentiation (GO:0060510)|urothelial cell proliferation (GO:0050674)|white fat cell differentiation (GO:0050872)|wound healing (GO:0042060)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chemoattractant activity (GO:0042056)|fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|type 2 fibroblast growth factor receptor binding (GO:0005111)			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					AGCAACAAAAAGCAGCAGCAGCA	0.537																																						ENST00000264664.4																			0				haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13						c.(67-72)ttt>t		fibroblast growth factor 10																																				SO:0001651	inframe_deletion	2255				actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding	g.chr5:44388715_44388717delAGC		CCDS3950.1	5p13-p12	2008-02-05			ENSG00000070193	ENSG00000070193			3666	protein-coding gene	gene with protein product		602115				9287324	Standard	NM_004465		Approved		uc003jog.1	O15520	OTTHUMG00000131153	ENST00000264664.4:c.68_70delGCT	5.37:g.44388724_44388726delAGC	ENSP00000264664:p.Cys23del						p.CF23del	NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN			1	182_184	-	Lung NSC(6;1.12e-06)		23					C7FDY0|Q6FHR3|Q6FHT6|Q96P59	In_Frame_Del	DEL	ENST00000264664.4	37	c.68_70delGCT	CCDS3950.1																																																																																				0.537	FGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253845.2	NM_004465		7	102						7	102	---	---	---	---
HIST1H2BG	8339	broad.mit.edu	37	6	26216686	26216706	+	In_Frame_Del	DEL	GATGCCCATGGCCTTGGATGA	GATGCCCATGGCCTTGGATGA	-	rs140919872|rs372917727|rs200965546	byFrequency	TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr6:26216686_26216706delGATGCCCATGGCCTTGGATGA	ENST00000244601.3	-	1	166_186	c.166_186delTCATCCAAGGCCATGGGCATC	c.(166-186)tcatccaaggccatgggcatcdel	p.SSKAMGI56del	HIST1H2AE_ENST00000303910.2_5'Flank	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	56					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				AGGAATTCATGATGCCCATGGCCTTGGATGAGATGCCAGTA	0.538																																						ENST00000244601.3																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(166-186)del		histone cluster 1, H2bg																																				SO:0001651	inframe_deletion	8339				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26216686_26216706delGATGCCCATGGCCTTGGATGA	M60750	CCDS4594.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000187990	ENSG00000273802		"""Histones / Replication-dependent"""	4746	protein-coding gene	gene with protein product		602798	"""H2B histone family, member A"", ""histone 1, H2bg"""	H2BFA		1916825, 12408966	Standard	NM_003518		Approved	H2B/a, H2B.1A	uc003ngz.2	P62807	OTTHUMG00000014446	ENST00000244601.3:c.166_186delTCATCCAAGGCCATGGGCATC	6.37:g.26216686_26216706delGATGCCCATGGCCTTGGATGA	ENSP00000244601:p.Ser56_Ile62del						p.SSKAMGI56del	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN			1	166_186	-		all_hematologic(11;0.196)	56					P02278|Q3B872|Q4VB69|Q93078|Q93080	In_Frame_Del	DEL	ENST00000244601.3	37	c.166_186delTCATCCAAGGCCATGGGCATC	CCDS4594.1																																																																																				0.538	HIST1H2BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040109.2	NM_003518		12	228						12	228	---	---	---	---
CCT6P3	643180	broad.mit.edu	37	7	64528813	64528814	+	RNA	INS	-	-	T			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr7:64528813_64528814insT	ENST00000426828.1	+	0	621				SNORA22_ENST00000384614.1_RNA|SNORA15_ENST00000384334.1_RNA	NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		CTTTCTGTAACTTTTTTTTTTT	0.317																																						ENST00000426828.1																			0																																																			0							g.chr7:64528813_64528814insT			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64528824_64528824dupT								NR_033416.1						0	621	+									RNA	INS	ENST00000426828.1	37																																																																																						0.317	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			4	6						4	6	---	---	---	---
PCID2	55795	broad.mit.edu	37	13	113854766	113854766	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr13:113854766delG	ENST00000337344.4	-	2	177	c.101delC	c.(100-102)cctfs	p.P34fs	PCID2_ENST00000375479.2_Frame_Shift_Del_p.P34fs|PCID2_ENST00000375477.1_Frame_Shift_Del_p.P34fs|PCID2_ENST00000375457.2_Frame_Shift_Del_p.P32fs|PCID2_ENST00000246505.5_Frame_Shift_Del_p.P34fs|PCID2_ENST00000375459.1_Frame_Shift_Del_p.P32fs	NM_001127202.2	NP_001120674.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	34					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mRNA stability (GO:0043488)|spleen development (GO:0048536)					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			TGCAACATGAGGATGTTTAAA	0.443																																						ENST00000375457.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20						c.(94-96)ctfs		PCI domain containing 2							117.0	117.0	117.0					13																	113854766		2203	4300	6503	SO:0001589	frameshift_variant	55795				negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding	g.chr13:113854766delG	AK002167	CCDS9532.2, CCDS58301.1, CCDS58302.1	13q34	2006-03-31			ENSG00000126226	ENSG00000126226			25653	protein-coding gene	gene with protein product		613713				12477932	Standard	NM_001127203		Approved	FLJ11305	uc031qnm.1	Q5JVF3	OTTHUMG00000017385	ENST00000337344.4:c.101delC	13.37:g.113854766delG	ENSP00000337405:p.Pro34fs					PCID2_ENST00000337344.4_Frame_Shift_Del_p.P34fs|PCID2_ENST00000246505.5_Frame_Shift_Del_p.P34fs|PCID2_ENST00000375479.2_Frame_Shift_Del_p.P34fs|PCID2_ENST00000351317.3_Frame_Shift_Del_p.P34fs|PCID2_ENST00000375477.1_Frame_Shift_Del_p.P34fs|PCID2_ENST00000375459.1_Frame_Shift_Del_p.P32fs	p.P32fs	NM_001258213.1	NP_001245142.1	Q5JVF3	PCID2_HUMAN	all cancers(43;0.104)		2	691	-	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	34					A6NK09|Q3ZCX1|Q5TC57|Q5TC58|Q9H7K1|Q9HBZ7|Q9NUK6|Q9NVY1|Q9NW44|Q9NWH3	Frame_Shift_Del	DEL	ENST00000337344.4	37	c.95delC	CCDS9532.2																																																																																				0.443	PCID2-002	KNOWN	alternative_3_UTR|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045897.1	NM_018386		35	93						35	93	---	---	---	---
RNF31	55072	broad.mit.edu	37	14	24619808	24619809	+	Splice_Site	INS	-	-	G			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr14:24619808_24619809insG	ENST00000324103.6	+	8	1519_1520	c.1199_1200insG	c.(1198-1203)cagggg>caGgggg	p.QG400fs	RNF31_ENST00000382687.3_Splice_Site_p.QG249fs|RNF31_ENST00000559275.1_Splice_Site_p.QG249fs|RP11-468E2.4_ENST00000558468.1_5'Flank	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	400	Polyubiquitin-binding.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		CCTTCCCAGCAGGGGGATGCTT	0.52																																						ENST00000324103.6																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39						c.e8-1		ring finger protein 31																																				SO:0001630	splice_region_variant	55072				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:24619808_24619809insG	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.1198-1->G	14.37:g.24619813_24619813dupG						RNF31_ENST00000559275.1_Splice_Site_p.R249_splice|RNF31_ENST00000382687.3_Splice_Site_p.R249_splice	p.R400_splice	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN		GBM - Glioblastoma multiforme(265;0.00861)	8	1519_1520	+			400			Polyubiquitin-binding.		A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Splice_Site	INS	ENST00000324103.6	37	c.1197_splice	CCDS41931.1																																																																																				0.520	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999	Frame_Shift_Ins	51	382						51	382	---	---	---	---
WDR81	124997	broad.mit.edu	37	17	1631341	1631343	+	In_Frame_Del	DEL	GAG	GAG	-	rs577690948|rs200758098|rs35048651	byFrequency	TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr17:1631341_1631343delGAG	ENST00000409644.1	+	1	3088_3090	c.3088_3090delGAG	c.(3088-3090)gagdel	p.E1033del	WDR81_ENST00000545662.1_5'Flank|WDR81_ENST00000437219.2_Intron|WDR81_ENST00000309182.5_5'UTR|WDR81_ENST00000419248.1_Intron|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000446363.1_Intron	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1033				Missing (in Ref. 1; BAB84937). {ECO:0000305}.	negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGGGGCTGCTGAGGAGGAGGAGA	0.695														1061	0.211861	0.115	0.196	5008	,	,		16982	0.1835		0.1948	False		,,,				2504	0.4008					ENST00000409644.1																			0				cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16						c.(3088-3090)del		WD repeat domain 81			,,,	549,3367		98,353,1507					,,,	-11.3	0.0		dbSNP_130	17	1642,6232		262,1118,2557	no	utr-5,intron,coding,intron	WDR81	NM_152348.3,NM_001163811.1,NM_001163809.1,NM_001163673.1	,,,	360,1471,4064	A1A1,A1R,RR		20.8534,14.0194,18.5835	,,,	,,,		2191,9599				SO:0001651	inframe_deletion	124997							g.chr17:1631341_1631343delGAG	AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.3088_3090delGAG	17.37:g.1631350_1631352delGAG	ENSP00000386609:p.Glu1033del					WDR81_ENST00000419248.1_Intron|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000309182.5_5'UTR|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000437219.2_Intron	p.E1033del	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	1	3088_3090	+			305					B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	In_Frame_Del	DEL	ENST00000409644.1	37	c.3088_3090delGAG	CCDS54062.1																																																																																				0.695	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		9	4						9	4	---	---	---	---
GHDC	84514	broad.mit.edu	37	17	40345560	40345562	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr17:40345560_40345562delGCA	ENST00000301671.8	-	2	479_481	c.38_40delTGC	c.(37-42)ctgcca>cca	p.L13del	GHDC_ENST00000414034.3_In_Frame_Del_p.L13del|GHDC_ENST00000593209.1_In_Frame_Del_p.L13del|GHDC_ENST00000436923.2_In_Frame_Del_p.L13del|GHDC_ENST00000428494.2_In_Frame_Del_p.L13del|GHDC_ENST00000587427.1_In_Frame_Del_p.L13del|GHDC_ENST00000590520.1_5'UTR			Q8N2G8	GHDC_HUMAN	GH3 domain containing	13						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		GCCAATGTTGgcagcagcagcag	0.631																																						ENST00000301671.8																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(37-42)cca>c		GH3 domain containing			,,	153,2,2875		20,0,113,1,0,1381					,,	-3.0	0.0			4	312,7,5755		37,0,238,1,5,2756	no	codingComplex,codingComplex,codingComplex	GHDC	NM_032484.4,NM_001142623.1,NM_001142622.1	,,	57,0,351,2,5,4137	A1A1,A1A2,A1R,A2A2,A2R,RR		5.2519,5.1155,5.2065	,,	,,		465,9,8630				SO:0001651	inframe_deletion	84514					endoplasmic reticulum|nuclear envelope		g.chr17:40345560_40345562delGCA	AF316997, BC011056	CCDS11422.1, CCDS45682.1	17q21.2	2006-08-02				ENSG00000167925			24438	protein-coding gene	gene with protein product		608587				11161808, 11735219	Standard	NR_024573		Approved	LGP1	uc002hzf.4	Q8N2G8		ENST00000301671.8:c.38_40delTGC	17.37:g.40345569_40345571delGCA	ENSP00000301671:p.Leu13del					GHDC_ENST00000593209.1_In_Frame_Del_p.LP13del|GHDC_ENST00000590520.1_5'UTR|GHDC_ENST00000587427.1_In_Frame_Del_p.LP13del|GHDC_ENST00000428494.2_In_Frame_Del_p.LP13del|GHDC_ENST00000414034.3_In_Frame_Del_p.LP13del|GHDC_ENST00000436923.2_In_Frame_Del_p.LP13del	p.LP13del			Q8N2G8	GHDC_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.124)	2	479_481	-		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)	13					B4DQS4|E9PDB5|Q9BXM6	In_Frame_Del	DEL	ENST00000301671.8	37	c.38_40delTGC	CCDS11422.1																																																																																				0.631	GHDC-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449794.1	NM_032484		2	4						2	4	---	---	---	---
ARFGAP3	26286	broad.mit.edu	37	22	43213780	43213780	+	Frame_Shift_Del	DEL	T	T	-	rs552164906		TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr22:43213780delT	ENST00000263245.5	-	10	1115	c.896delA	c.(895-897)aatfs	p.N299fs	ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.N255fs|ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.N227fs	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	299					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|protein secretion (GO:0009306)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						TGAGTCAACATTTTTTTTGCC	0.363																																					GBM(58;544 1030 21460 27159 48838)	ENST00000263245.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						c.(895-897)atfs		ADP-ribosylation factor GTPase activating protein 3							317.0	285.0	296.0					22																	43213780		2203	4300	6503	SO:0001589	frameshift_variant	26286				intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding	g.chr22:43213780delT	AK002083	CCDS14042.1, CCDS46722.1	22q13.2	2009-11-30	2002-08-20	2002-08-23	ENSG00000242247	ENSG00000242247		"""ADP-ribosylation factor GTPase activating proteins"""	661	protein-coding gene	gene with protein product		612439	"""ADP-ribosylation factor GTPase activating protein 1"""	ARFGAP1		10704287, 11172815	Standard	NM_014570		Approved		uc003bdd.2	Q9NP61	OTTHUMG00000150718	ENST00000263245.5:c.896delA	22.37:g.43213780delT	ENSP00000263245:p.Asn299fs					ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.N255fs|ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.N227fs	p.N299fs	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN			10	1115	-			299					E9PB03|Q9BSC6|Q9H9J0|Q9NT10|Q9NUP5|Q9Y4V3|Q9Y4V4	Frame_Shift_Del	DEL	ENST00000263245.5	37	c.896delA	CCDS14042.1																																																																																				0.363	ARFGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319747.2	NM_014570		9	239						9	239	---	---	---	---
