#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
PWWP2A	114825	broad.mit.edu	37	5	159520656	159520656	+	Missense_Mutation	SNP	T	T	C			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr5:159520656T>C	ENST00000307063.7	-	2	1035	c.1001A>G	c.(1000-1002)aAg>aGg	p.K334R	PWWP2A_ENST00000456329.3_Missense_Mutation_p.K334R|PWWP2A_ENST00000523662.1_Missense_Mutation_p.K334R	NM_001130864.1	NP_001124336.1	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A	334										kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTAATTTCCTTTTTTTCAGC	0.333																																						ENST00000456329.3																			0				kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(1000-1002)aAg>aGg		PWWP domain containing 2A							122.0	103.0	109.0					5																	159520656		1822	4092	5914	SO:0001583	missense	114825							g.chr5:159520656T>C		CCDS47331.1, CCDS47332.1, CCDS58990.1	5q33.3	2011-03-23			ENSG00000170234	ENSG00000170234			29406	protein-coding gene	gene with protein product							Standard	NM_052927		Approved	KIAA1935	uc011ded.2	Q96N64	OTTHUMG00000163546	ENST00000307063.7:c.1001A>G	5.37:g.159520656T>C	ENSP00000305151:p.Lys334Arg					PWWP2A_ENST00000523662.1_Missense_Mutation_p.K334R|PWWP2A_ENST00000307063.7_Missense_Mutation_p.K334R	p.K334R	NM_052927.2	NP_443159.1	Q96N64	PWP2A_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	1035	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	334					G5EA07|Q2HJJ2|Q8IYR3|Q96PV3	Missense_Mutation	SNP	ENST00000307063.7	37	c.1001A>G	CCDS47332.1	.	.	.	.	.	.	.	.	.	.	T	8.748	0.920598	0.17982	.	.	ENSG00000170234	ENST00000456329;ENST00000523662;ENST00000307063	T;T;T	0.24723	1.84;1.84;1.84	5.57	4.39	0.52855	.	0.048097	0.85682	D	0.000000	T	0.17408	0.0418	N	0.19112	0.55	0.34025	D	0.653078	P;P;P	0.51933	0.704;0.949;0.949	B;B;B	0.43301	0.236;0.415;0.415	T	0.18808	-1.0325	10	0.33940	T	0.23	-14.8326	11.4822	0.50333	0.0:0.0727:0.0:0.9273	.	334;334;334	Q96N64;G5EA07;Q96N64-2	PWP2A_HUMAN;.;.	R	334	ENSP00000390462:K334R;ENSP00000428143:K334R;ENSP00000305151:K334R	ENSP00000305151:K334R	K	-	2	0	PWWP2A	159453234	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.823000	0.55715	2.123000	0.65237	0.460000	0.39030	AAG		0.333	PWWP2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374092.1			3	63	0	0	0	1	0	3	63				
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C	rs369326402	byFrequency	TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597																																						ENST00000463781.3																			10	Substitution - Missense(10)	p.H4205Q(10)	kidney(4)|prostate(3)|urinary_tract(2)|endometrium(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(12613-12615)caC>caG		mucin 4, cell surface associated							15.0	14.0	14.0					3																	195505836		687	1573	2260	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505836G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12615C>G	3.37:g.195505836G>C	ENSP00000417498:p.His4205Gln					MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000346145.4_Intron	p.H4205Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	13074	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	968					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.12615C>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	0.099	-1.155501	0.01686	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30448	1.55;1.53	.	.	.	.	.	.	.	.	T	0.17619	0.0423	N	0.19112	0.55	0.21950	N	0.999454	P	0.35208	0.49	B	0.40038	0.317	T	0.24368	-1.0162	6	.	.	.	.	.	.	.	.	4077	E7ESK3	.	Q	4205	ENSP00000417498:H4205Q;ENSP00000420243:H4205Q	.	H	-	3	2	MUC4	196990615	.	.	0.016000	0.15963	0.046000	0.14306	.	.	-0.849000	0.04158	0.074000	0.15403	CAC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		2	2	0	0	0	1	0	2	2				
SIRT4	23409	broad.mit.edu	37	12	120741654	120741654	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr12:120741654G>A	ENST00000202967.4	+	2	349	c.290G>A	c.(289-291)cGg>cAg	p.R97Q		NM_012240.2	NP_036372.1			sirtuin 4											haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GATTTTGTCCGGAGTGCCCCA	0.582																																						ENST00000202967.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9						c.(289-291)cGg>cAg		sirtuin 4							51.0	46.0	47.0					12																	120741654		2203	4300	6503	SO:0001583	missense	23409				chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding	g.chr12:120741654G>A	AF083109	CCDS9194.1	12q24.31	2010-06-25	2010-06-25		ENSG00000089163	ENSG00000089163			14932	protein-coding gene	gene with protein product		604482	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 4"", ""sirtuin (silent mating type information regulation 2 homolog) 4 (S. cerevisiae)"""			10381378	Standard	NM_012240		Approved	SIR2L4	uc001tyc.3	Q9Y6E7	OTTHUMG00000169028	ENST00000202967.4:c.290G>A	12.37:g.120741654G>A	ENSP00000202967:p.Arg97Gln						p.R97Q	NM_012240.2	NP_036372.1	Q9Y6E7	SIRT4_HUMAN			2	349	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		97			Deacetylase sirtuin-type.			Missense_Mutation	SNP	ENST00000202967.4	37	c.290G>A	CCDS9194.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.629543	0.28978	.	.	ENSG00000089163	ENST00000536460;ENST00000202967	T;T	0.17054	2.3;2.3	5.39	1.17	0.20885	.	0.274240	0.43110	N	0.000608	T	0.16896	0.0406	L	0.56396	1.775	0.47183	D	0.999343	B	0.25667	0.131	B	0.28232	0.087	T	0.04481	-1.0948	10	0.42905	T	0.14	-7.8856	9.181	0.37141	0.3711:0.0:0.6289:0.0	.	97	Q9Y6E7	SIRT4_HUMAN	Q	38;97	ENSP00000444838:R38Q;ENSP00000202967:R97Q	ENSP00000202967:R97Q	R	+	2	0	SIRT4	119226037	0.987000	0.35691	0.001000	0.08648	0.322000	0.28314	1.866000	0.39489	0.007000	0.14760	-0.365000	0.07479	CGG		0.582	SIRT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402003.1	NM_012240		3	44	0	0	0	1	0	3	44				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537																																						ENST00000567960.1																			2	Substitution - coding silent(2)	p.N415N(2)	prostate(1)|kidney(1)																																																0							g.chr16:90162513T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162513T>C						TUBB8P7_ENST00000564451.1_RNA								0	1249	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		5	216	0	0	0	1	0	5	216				
FAT2	2196	broad.mit.edu	37	5	150925516	150925516	+	Silent	SNP	C	C	T			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr5:150925516C>T	ENST00000261800.5	-	9	5184	c.5172G>A	c.(5170-5172)tcG>tcA	p.S1724S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1724	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTGGTAAGACGAGATTTTCT	0.413																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(5170-5172)tcG>tcA		FAT atypical cadherin 2							120.0	122.0	121.0					5																	150925516		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150925516C>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.5172G>A	5.37:g.150925516C>T							p.S1724S	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	5184	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1724			Cadherin 15.		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.5172G>A	CCDS4317.1																																																																																				0.413	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		28	148	0	0	0	1	0	28	148				
ZCCHC5	203430	broad.mit.edu	37	X	77912899	77912899	+	Missense_Mutation	SNP	G	G	T			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chrX:77912899G>T	ENST00000321110.1	-	2	1314	c.1019C>A	c.(1018-1020)gCa>gAa	p.A340E		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	340							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GAAGTGGGTTGCTACATGACC	0.453																																						ENST00000321110.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						c.(1018-1020)gCa>gAa		zinc finger, CCHC domain containing 5							89.0	73.0	78.0					X																	77912899		2203	4300	6503	SO:0001583	missense	203430						nucleic acid binding|zinc ion binding	g.chrX:77912899G>T	AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"""Zinc fingers, CCHC domain containing"""	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.1019C>A	X.37:g.77912899G>T	ENSP00000316794:p.Ala340Glu						p.A340E	NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN			2	1314	-			340					B2RMZ0|Q5JQE9	Missense_Mutation	SNP	ENST00000321110.1	37	c.1019C>A	CCDS14440.1	.	.	.	.	.	.	.	.	.	.	G	1.113	-0.657472	0.03480	.	.	ENSG00000179300	ENST00000321110	T	0.22134	1.97	3.2	-0.938	0.10412	.	3.060580	0.02042	U	0.049366	T	0.16811	0.0404	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27571	-1.0070	10	0.48119	T	0.1	.	6.58	0.22588	0.6116:0.0:0.3884:0.0	.	340	Q8N8U3	ZCHC5_HUMAN	E	340	ENSP00000316794:A340E	ENSP00000316794:A340E	A	-	2	0	ZCCHC5	77799555	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.361000	0.20267	-0.405000	0.07599	-0.322000	0.08575	GCA		0.453	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694		8	43	1	0	1	1	1	8	43				
KRTAP10-7	386675	broad.mit.edu	37	21	46021268	46021268	+	Silent	SNP	T	T	G			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr21:46021268T>G	ENST00000380102.2	+	1	772	c.747T>G	c.(745-747)tcT>tcG	p.S249S	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	249	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						CCACCTGCTCTGATGATTCCG	0.642																																						ENST00000380102.2																			0				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(745-747)tcT>tcG		keratin associated protein 10-7							153.0	152.0	152.0					21																	46021268		2203	4300	6503	SO:0001819	synonymous_variant	386675					keratin filament		g.chr21:46021268T>G	AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.747T>G	21.37:g.46021268T>G						TSPEAR_ENST00000323084.4_Intron	p.S249S	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN			1	772	+			249			30 X 5 AA repeats of C-C-X(3).		Q0VDJ8|Q70LJ2	Silent	SNP	ENST00000380102.2	37	c.747T>G																																																																																					0.642	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689		52	243	0	0	0	1	0	52	243				
A2ML1	144568	broad.mit.edu	37	12	8988135	8988135	+	Silent	SNP	G	G	A			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr12:8988135G>A	ENST00000299698.7	+	6	696	c.516G>A	c.(514-516)ctG>ctA	p.L172L		NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CACAGTGGCTGGAAGTGGTAC	0.532																																						ENST00000299698.7																			0				NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						c.(514-516)ctG>ctA		alpha-2-macroglobulin-like 1							111.0	116.0	115.0					12																	8988135		2059	4210	6269	SO:0001819	synonymous_variant	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:8988135G>A	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.516G>A	12.37:g.8988135G>A							p.L172L	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN			6	696	+			16						Silent	SNP	ENST00000299698.7	37	c.516G>A	CCDS8596.2																																																																																				0.532	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		4	166	0	0	0	1	0	4	166				
TSSC2	650368	broad.mit.edu	37	11	3427759	3427759	+	RNA	SNP	C	C	T			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr11:3427759C>T	ENST00000529482.1	+	0	876									tumor suppressing subtransferable candidate 2 pseudogene																		TGTCTGCACACGTCCTGCAGT	0.612																																						ENST00000529482.1																			0																																																			0							g.chr11:3427759C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427759C>T														0	876	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.612	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			3	80	0	0	0	1	0	3	80				
LETM1	3954	broad.mit.edu	37	4	1838262	1838262	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr4:1838262G>A	ENST00000302787.2	-	4	928	c.632C>T	c.(631-633)cCg>cTg	p.P211L		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	211	LETM1.				cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			CACAAGGAACGGCACCAGGCG	0.562																																						ENST00000302787.2																			0				breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(631-633)cCg>cTg		leucine zipper-EF-hand containing transmembrane protein 1							147.0	121.0	130.0					4																	1838262		2203	4300	6503	SO:0001583	missense	3954				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr4:1838262G>A	AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"""EF-hand domain containing"""	6556	protein-coding gene	gene with protein product	"""Mdm38 homolog (yeast)"""	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.632C>T	4.37:g.1838262G>A	ENSP00000305653:p.Pro211Leu						p.P211L	NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)		4	928	-			211			LETM1.		B4DED2|Q9UF65	Missense_Mutation	SNP	ENST00000302787.2	37	c.632C>T	CCDS3355.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.660898	0.88154	.	.	ENSG00000168924	ENST00000302787;ENST00000417150	T	0.57273	0.41	4.01	4.01	0.46588	LETM1-like (1);	0.000000	0.85682	D	0.000000	T	0.76608	0.4011	M	0.88512	2.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.83082	-0.0137	10	0.87932	D	0	-30.3223	16.3116	0.82873	0.0:0.0:1.0:0.0	.	211;211	O95202-3;O95202	.;LETM1_HUMAN	L	211;171	ENSP00000305653:P211L	ENSP00000305653:P211L	P	-	2	0	LETM1	1808060	1.000000	0.71417	0.723000	0.30687	0.801000	0.45260	9.506000	0.97992	2.077000	0.62373	0.563000	0.77884	CCG		0.562	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1			31	125	0	0	0	1	0	31	125				
DGKZ	8525	broad.mit.edu	37	11	46397012	46397012	+	Missense_Mutation	SNP	C	C	T			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr11:46397012C>T	ENST00000454345.1	+	21	2430	c.2305C>T	c.(2305-2307)Cgg>Tgg	p.R769W	DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000343674.6_Missense_Mutation_p.R597W|DGKZ_ENST00000456247.2_Missense_Mutation_p.R580W|DGKZ_ENST00000527911.1_Missense_Mutation_p.R581W|MIR4688_ENST00000577966.1_RNA|DGKZ_ENST00000532868.2_Missense_Mutation_p.R585W|DGKZ_ENST00000421244.2_Missense_Mutation_p.R581W|DGKZ_ENST00000395574.3_Missense_Mutation_p.R547W|DGKZ_ENST00000528615.1_Missense_Mutation_p.R359W|DGKZ_ENST00000318201.8_Missense_Mutation_p.R558W	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	769					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		ACACGGCGAGCGGCTGACGCA	0.682																																						ENST00000454345.1																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25						c.(2305-2307)Cgg>Tgg		diacylglycerol kinase, zeta																																				SO:0001583	missense	8525				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	g.chr11:46397012C>T	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.2305C>T	11.37:g.46397012C>T	ENSP00000412178:p.Arg769Trp					DGKZ_ENST00000532868.2_Missense_Mutation_p.R585W|DGKZ_ENST00000318201.8_Missense_Mutation_p.R558W|DGKZ_ENST00000528615.1_Missense_Mutation_p.R359W|DGKZ_ENST00000527911.1_Missense_Mutation_p.R581W|DGKZ_ENST00000343674.6_Missense_Mutation_p.R597W|DGKZ_ENST00000456247.2_Missense_Mutation_p.R580W|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000421244.2_Missense_Mutation_p.R581W|DGKZ_ENST00000395574.3_Missense_Mutation_p.R547W	p.R769W	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN		GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)	21	2430	+			769					B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	ENST00000454345.1	37	c.2305C>T	CCDS41640.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.390795	0.62066	.	.	ENSG00000149091	ENST00000343674;ENST00000528615;ENST00000395574;ENST00000532868;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345	T;T;T;T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09	4.34	3.41	0.39046	Diacylglycerol kinase, accessory domain (2);	0.000000	0.85682	D	0.000000	T	0.71230	0.3315	M	0.94101	3.495	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.999;0.999;1.0;1.0;0.999;0.998;1.0;1.0;0.999	T	0.79181	-0.1909	10	0.66056	D	0.02	.	13.147	0.59467	0.2888:0.7112:0.0:0.0	.	558;546;524;581;769;580;581;547;597	B7Z2M9;B7Z6M3;B7Z8F6;E9PPW4;Q13574;Q13574-2;G3V0F6;A8MVN1;Q6ZVG7	.;.;.;.;DGKZ_HUMAN;.;.;.;.	W	597;359;547;546;581;580;581;558;769	ENSP00000343065:R597W;ENSP00000434719:R359W;ENSP00000378941:R547W;ENSP00000436273:R546W;ENSP00000436291:R581W;ENSP00000395684:R580W;ENSP00000391021:R581W;ENSP00000320340:R558W;ENSP00000412178:R769W	ENSP00000320340:R558W	R	+	1	2	DGKZ	46353588	1.000000	0.71417	1.000000	0.80357	0.502000	0.33828	1.317000	0.33631	1.170000	0.42753	0.462000	0.41574	CGG		0.682	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540		3	2	0	0	0	1	0	3	2				
CROCCP2	84809	broad.mit.edu	37	1	16946407	16946407	+	lincRNA	SNP	T	T	G	rs10796418		TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr1:16946407T>G	ENST00000412962.1	-	0	1112				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGCAATCTCCTCACTCAGCTG	0.672																																						ENST00000412962.1																			0																																																			0							g.chr1:16946407T>G	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946407T>G														0	1112	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		3	37	0	0	0	1	0	3	37				
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr11:3427765G>C	ENST00000529482.1	+	0	882									tumor suppressing subtransferable candidate 2 pseudogene																		CACACGTCCTGCAGTGGCCTG	0.602																																						ENST00000529482.1																			0																																																			0							g.chr11:3427765G>C			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427765G>C														0	882	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.602	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			3	81	0	0	0	1	0	3	81				
GLYCTK	132158	broad.mit.edu	37	3	52326848	52326848	+	Silent	SNP	G	G	C			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr3:52326848G>C	ENST00000436784.2	+	5	1338	c.1278G>C	c.(1276-1278)ctG>ctC	p.L426L	GLYCTK_ENST00000354773.4_3'UTR|GLYCTK_ENST00000305690.8_Intron|GLYCTK_ENST00000461183.1_Intron|GLYCTK_ENST00000473032.1_Intron|GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000471180.1_Intron|GLYCTK_ENST00000477382.1_3'UTR|MIR135A1_ENST00000385191.1_RNA			Q8IVS8	GLCTK_HUMAN	glycerate kinase	426					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glycerate kinase activity (GO:0008887)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		ACCAGGAACTGGCCCTGCGTG	0.657																																						ENST00000436784.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9						c.(1276-1278)ctG>ctC		glycerate kinase							75.0	72.0	73.0					3																	52326848		2203	4300	6503	SO:0001819	synonymous_variant	132158				protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding	g.chr3:52326848G>C		CCDS2852.1, CCDS46841.1	3p21.1	2008-01-22			ENSG00000168237	ENSG00000168237	2.7.1.31		24247	protein-coding gene	gene with protein product		610516				16753811	Standard	NM_145262		Approved	HBEBP4, HBEBP2	uc003ddo.3	Q8IVS8	OTTHUMG00000158380	ENST00000436784.2:c.1278G>C	3.37:g.52326848G>C						GLYCTK_ENST00000473032.1_Intron|GLYCTK_ENST00000471180.1_Intron|GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000354773.4_3'UTR|GLYCTK_ENST00000305690.8_Intron|GLYCTK_ENST00000477382.1_3'UTR|GLYCTK_ENST00000461183.1_Intron	p.L426L			Q8IVS8	GLCTK_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)	5	1338	+			426					Q0P630|Q2EZ43|Q6Y2K6|Q7Z6G5|Q86YR8|Q8TED2|Q8WTY2	Silent	SNP	ENST00000436784.2	37	c.1278G>C	CCDS2852.1																																																																																				0.657	GLYCTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350835.1	NM_145262		30	87	0	0	0	1	0	30	87				
RNF186	54546	broad.mit.edu	37	1	20141106	20141106	+	Silent	SNP	G	G	A			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr1:20141106G>A	ENST00000375121.2	-	1	665	c.489C>T	c.(487-489)gcC>gcT	p.A163A	RP11-91K11.2_ENST00000454736.1_RNA	NM_019062.1	NP_061935.1	Q9NXI6	RN186_HUMAN	ring finger protein 186	163						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			kidney(1)|lung(3)|urinary_tract(1)	5		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TAATGAGCAAGGCCAGCAGGA	0.607																																						ENST00000375121.2																			0				kidney(1)|lung(3)|urinary_tract(1)	5						c.(487-489)gcC>gcT		ring finger protein 186							95.0	108.0	104.0					1																	20141106		2203	4300	6503	SO:0001819	synonymous_variant	54546					integral to membrane	zinc ion binding	g.chr1:20141106G>A		CCDS199.1	1p36.13	2008-02-05			ENSG00000178828	ENSG00000178828		"""RING-type (C3HC4) zinc fingers"""	25978	protein-coding gene	gene with protein product	"""hypothetical protein FLJ20225"""					12477932	Standard	NM_019062		Approved	FLJ20225	uc001bcr.3	Q9NXI6	OTTHUMG00000002709	ENST00000375121.2:c.489C>T	1.37:g.20141106G>A						RP11-91K11.2_ENST00000454736.1_RNA	p.A163A	NM_019062.1	NP_061935.1	Q9NXI6	RN186_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	665	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	163					Q53GE0	Silent	SNP	ENST00000375121.2	37	c.489C>T	CCDS199.1																																																																																				0.607	RNF186-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007694.1	NM_019062		6	161	0	0	0	1	0	6	161				
CARD10	29775	broad.mit.edu	37	22	37888680	37888680	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr22:37888680G>A	ENST00000403299.1	-	18	2822	c.2606C>T	c.(2605-2607)tCc>tTc	p.S869F	CARD10_ENST00000406271.3_Missense_Mutation_p.S583F|CARD10_ENST00000251973.5_Missense_Mutation_p.S869F			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	869					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					GTCCAGCCGGGAGCTGGGCAG	0.682																																						ENST00000403299.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(2605-2607)tCc>tTc		caspase recruitment domain family, member 10							26.0	25.0	26.0					22																	37888680		2201	4296	6497	SO:0001583	missense	29775				activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity	g.chr22:37888680G>A	AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.2606C>T	22.37:g.37888680G>A	ENSP00000384570:p.Ser869Phe					CARD10_ENST00000406271.3_Missense_Mutation_p.S583F|CARD10_ENST00000251973.5_Missense_Mutation_p.S869F	p.S869F			Q9BWT7	CAR10_HUMAN			18	2822	-	Melanoma(58;0.0574)		869					Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Missense_Mutation	SNP	ENST00000403299.1	37	c.2606C>T	CCDS13948.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003758	0.74932	.	.	ENSG00000100065	ENST00000403299;ENST00000406271;ENST00000251973	T;T;T	0.48836	0.8;2.49;0.8	4.81	4.81	0.61882	.	0.000000	0.64402	D	0.000001	T	0.64800	0.2631	L	0.59436	1.845	0.35435	D	0.794386	D;D	0.89917	0.999;1.0	D;D	0.83275	0.996;0.984	T	0.73754	-0.3883	10	0.62326	D	0.03	-28.352	15.1863	0.73006	0.0:0.0:1.0:0.0	.	869;583	Q9BWT7;Q8NC81	CAR10_HUMAN;.	F	869;583;869	ENSP00000384570:S869F;ENSP00000385799:S583F;ENSP00000251973:S869F	ENSP00000251973:S869F	S	-	2	0	CARD10	36218626	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	4.414000	0.59802	2.516000	0.84829	0.655000	0.94253	TCC		0.682	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318997.1	NM_014550		6	32	0	0	0	1	0	6	32				
EIF4H	7458	broad.mit.edu	37	7	73609165	73609165	+	Silent	SNP	T	T	C			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr7:73609165T>C	ENST00000265753.8	+	6	703	c.564T>C	c.(562-564)ccT>ccC	p.P188P	EIF4H_ENST00000353999.6_Silent_p.P168P	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	188					cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|sexual reproduction (GO:0019953)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(1)|lung(2)|prostate(1)	4						GAGATGGCCCTCCCCTCCGTG	0.617																																						ENST00000265753.8																			0				endometrium(1)|lung(2)|prostate(1)	4						c.(562-564)ccT>ccC		eukaryotic translation initiation factor 4H							42.0	47.0	46.0					7																	73609165		2203	4300	6503	SO:0001819	synonymous_variant	7458				interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity	g.chr7:73609165T>C		CCDS5564.1, CCDS5565.1	7q11.23	2013-02-12	2006-11-27	2006-11-27	ENSG00000106682	ENSG00000106682		"""RNA binding motif (RRM) containing"""	12741	protein-coding gene	gene with protein product		603431	"""Williams-Beuren syndrome chromosome region 1"""	WBSCR1		9516461, 15078951	Standard	NM_022170		Approved	WSCR1, KIAA0038	uc003uad.1	Q15056	OTTHUMG00000023025	ENST00000265753.8:c.564T>C	7.37:g.73609165T>C						EIF4H_ENST00000353999.6_Silent_p.P168P	p.P188P	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN			6	703	+			188					A8K3R1|D3DXF6|D3DXF8	Silent	SNP	ENST00000265753.8	37	c.564T>C	CCDS5564.1																																																																																				0.617	EIF4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252375.2	NM_022170		3	76	0	0	0	1	0	3	76				
C11orf87	399947	broad.mit.edu	37	11	109294541	109294541	+	Missense_Mutation	SNP	C	C	T	rs187108020	byFrequency	TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr11:109294541C>T	ENST00000327419.6	+	2	585	c.182C>T	c.(181-183)aCg>aTg	p.T61M	RP11-708B6.2_ENST00000532929.1_RNA|RP11-708B6.2_ENST00000532992.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	61						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						TTCTCCTCCACGCTGGTGCTG	0.612													C|||	2	0.000399361	0.0	0.0	5008	,	,		19410	0.001		0.001	False		,,,				2504	0.0					ENST00000327419.6																			0				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(181-183)aCg>aTg		chromosome 11 open reading frame 87							165.0	134.0	145.0					11																	109294541		2201	4298	6499	SO:0001583	missense	399947					integral to membrane		g.chr11:109294541C>T	AB096240, BC035798	CCDS31672.1	11q22.3	2013-12-13	2013-12-13	2013-12-13	ENSG00000185742	ENSG00000185742			33788	protein-coding gene	gene with protein product	"""neuronal integral membrane protein 1"""					12477932	Standard	NM_207645		Approved	LOH11CR1A, LOC399947, NEURIM1	uc010rwb.2	Q6NUJ2		ENST00000327419.6:c.182C>T	11.37:g.109294541C>T	ENSP00000331581:p.Thr61Met					RP11-708B6.2_ENST00000532929.1_RNA|RP11-708B6.2_ENST00000532992.1_RNA	p.T61M	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN			2	585	+			61					B4E169	Missense_Mutation	SNP	ENST00000327419.6	37	c.182C>T	CCDS31672.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	C	19.69	3.875003	0.72180	.	.	ENSG00000185742	ENST00000327419	.	.	.	5.13	5.13	0.70059	.	0.000000	0.53938	U	0.000045	T	0.66655	0.2811	L	0.29908	0.895	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	T	0.70223	-0.4931	9	0.87932	D	0	.	16.4561	0.84015	0.0:1.0:0.0:0.0	.	61	Q6NUJ2	CK087_HUMAN	M	61	.	ENSP00000331581:T61M	T	+	2	0	C11orf87	108799751	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.868000	0.75516	2.556000	0.86216	0.655000	0.94253	ACG		0.612	C11orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390403.1	NM_207645		13	66	0	0	0	1	0	13	66				
EPB41L3	23136	broad.mit.edu	37	18	5395089	5395089	+	Missense_Mutation	SNP	C	C	T			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr18:5395089C>T	ENST00000341928.2	-	21	3470	c.3130G>A	c.(3130-3132)Gat>Aat	p.D1044N	EPB41L3_ENST00000342933.3_Missense_Mutation_p.D1044N|EPB41L3_ENST00000540638.2_Missense_Mutation_p.D822N|EPB41L3_ENST00000542146.1_Missense_Mutation_p.D349N|EPB41L3_ENST00000427684.2_Missense_Mutation_p.D341N|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000400111.3_Missense_Mutation_p.D822N|EPB41L3_ENST00000544123.1_Missense_Mutation_p.D875N	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	1044	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						ATGTCTGCATCCCCCGTGATG	0.443																																						ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(3130-3132)Gat>Aat		erythrocyte membrane protein band 4.1-like 3							154.0	132.0	139.0					18																	5395089		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5395089C>T	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.3130G>A	18.37:g.5395089C>T	ENSP00000343158:p.Asp1044Asn					EPB41L3_ENST00000400111.3_Missense_Mutation_p.D822N|EPB41L3_ENST00000542146.1_Missense_Mutation_p.D349N|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000427684.2_Missense_Mutation_p.D341N|EPB41L3_ENST00000544123.1_Missense_Mutation_p.D875N|EPB41L3_ENST00000540638.2_Missense_Mutation_p.D822N|EPB41L3_ENST00000342933.3_Missense_Mutation_p.D1044N	p.D1044N	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			21	3470	-			1044			Carboxyl-terminal (CTD).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.3130G>A	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	36	5.821022	0.96989	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	D;D;D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99;-1.99;-1.99	5.93	5.93	0.95920	Band 4.1, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94282	0.8163	M	0.90542	3.125	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.999;0.998;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.994;0.995;0.999;1.0;0.999;0.991;1.0;1.0	D	0.94480	0.7692	10	0.87932	D	0	.	20.3539	0.98825	0.0:1.0:0.0:0.0	.	875;341;349;436;713;822;1044;279	F5GX05;E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;.;E41L3_HUMAN;.	N	1044;713;875;713;341;349;1044;822	ENSP00000343158:D1044N;ENSP00000441174:D875N;ENSP00000392195:D341N;ENSP00000442233:D349N;ENSP00000341138:D1044N;ENSP00000382981:D822N	ENSP00000343158:D1044N	D	-	1	0	EPB41L3	5385089	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	7.770000	0.85390	2.826000	0.97356	0.655000	0.94253	GAT		0.443	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		21	100	0	0	0	1	0	21	100				
ADAMTS6	11174	broad.mit.edu	37	5	64629869	64629869	+	Splice_Site	SNP	C	C	T			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr5:64629869C>T	ENST00000536360.1	-	8	1930	c.1117G>A	c.(1117-1119)Ggc>Agc	p.G373S				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	373	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		aaaaaCTTACCCAGTGTTCCA	0.259																																						ENST00000536360.1																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18						c.e8+1		ADAM metallopeptidase with thrombospondin type 1 motif, 6							38.0	42.0	41.0					5																	64629869		2196	4295	6491	SO:0001630	splice_region_variant	11174				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:64629869C>T	AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	222	protein-coding gene	gene with protein product	"""a disintegrin and metalloproteinase with thrombospondin motifs 6"""	605008	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"""			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000536360.1:c.1117+1G>A	5.37:g.64629869C>T							p.G373_splice			Q9UKP5	ATS6_HUMAN		Lung(70;0.00942)	8	1930	-		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)	373			Peptidase M12B.		Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Splice_Site	SNP	ENST00000536360.1	37	c.1117_splice		.	.	.	.	.	.	.	.	.	.	C	27.6	4.850515	0.91277	.	.	ENSG00000049192	ENST00000381055;ENST00000261306;ENST00000464680;ENST00000536360	D;D;D	0.95272	-3.66;-3.66;-3.66	5.16	5.16	0.70880	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.97955	0.9327	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98962	1.0798	9	.	.	.	.	18.2467	0.89988	0.0:1.0:0.0:0.0	.	373	Q9UKP5	ATS6_HUMAN	S	373	ENSP00000370443:G373S;ENSP00000423551:G373S;ENSP00000440995:G373S	.	G	-	1	0	ADAMTS6	64665625	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.224000	0.78042	2.408000	0.81797	0.561000	0.74099	GGC		0.259	ADAMTS6-201	KNOWN	basic	protein_coding	protein_coding		NM_197941	Missense_Mutation	17	47	0	0	0	1	0	17	47				
TLDC1	57707	broad.mit.edu	37	16	84520509	84520509	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr16:84520509G>A	ENST00000343629.6	-	5	868	c.686C>T	c.(685-687)aCc>aTc	p.T229I	TLDC1_ENST00000561807.1_5'Flank|TLDC1_ENST00000535580.1_Missense_Mutation_p.T202I	NM_020947.3	NP_065998.3	Q6P9B6	TLDC1_HUMAN	TBC/LysM-associated domain containing 1	229						lysosomal membrane (GO:0005765)											AGGGACCAGGGTAGTCAGATC	0.562																																						ENST00000343629.6																			0											c.(685-687)aCc>aTc		TBC/LysM-associated domain containing 1							51.0	47.0	49.0					16																	84520509		2200	4300	6500	SO:0001583	missense	57707							g.chr16:84520509G>A	AB046829	CCDS32498.1	16q24.1	2013-03-14	2013-03-14	2013-03-14	ENSG00000140950	ENSG00000140950			29325	protein-coding gene	gene with protein product	"""TLD domain containing 1"""		"""KIAA1609"""	KIAA1609		10997877	Standard	NM_020947		Approved		uc002fib.3	Q6P9B6	OTTHUMG00000176739	ENST00000343629.6:c.686C>T	16.37:g.84520509G>A	ENSP00000343635:p.Thr229Ile					TLDC1_ENST00000535580.1_Missense_Mutation_p.T202I	p.T229I	NM_020947.3	NP_065998.3					5	868	-								Q8IZ64|Q9HCG3|Q9NTE8	Missense_Mutation	SNP	ENST00000343629.6	37	c.686C>T	CCDS32498.1	.	.	.	.	.	.	.	.	.	.	G	3.573	-0.087123	0.07097	.	.	ENSG00000140950	ENST00000343629;ENST00000535580	T;T	0.10573	3.04;2.86	4.98	1.32	0.21799	.	1.125910	0.06602	N	0.754030	T	0.13798	0.0334	M	0.68952	2.095	0.09310	N	1	P;B	0.45078	0.85;0.126	B;B	0.40285	0.325;0.055	T	0.31916	-0.9926	10	0.32370	T	0.25	-14.9371	8.152	0.31145	0.0:0.2401:0.5333:0.2266	.	202;229	F5GWS3;Q6P9B6	.;K1609_HUMAN	I	229;202	ENSP00000343635:T229I;ENSP00000441997:T202I	ENSP00000343635:T229I	T	-	2	0	KIAA1609	83078010	0.095000	0.21747	0.219000	0.23793	0.011000	0.07611	0.404000	0.20999	1.067000	0.40740	0.563000	0.77884	ACC		0.562	TLDC1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433421.1	NM_020947		3	69	0	0	0	1	0	3	69				
PRMT2	3275	broad.mit.edu	37	21	48069639	48069639	+	Silent	SNP	G	G	A			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr21:48069639G>A	ENST00000397637.1	+	6	1596	c.642G>A	c.(640-642)ggG>ggA	p.G214G	PRMT2_ENST00000451211.2_Silent_p.G214G|PRMT2_ENST00000440086.1_Silent_p.G214G|PRMT2_ENST00000397638.2_Silent_p.G214G|PRMT2_ENST00000491389.1_3'UTR|PRMT2_ENST00000334494.4_Silent_p.G214G|PRMT2_ENST00000291705.6_Silent_p.G214G|PRMT2_ENST00000397628.1_Silent_p.G214G|PRMT2_ENST00000355680.3_Silent_p.G214G|PRMT2_ENST00000458387.2_Silent_p.G214G			P55345	ANM2_HUMAN	protein arginine methyltransferase 2	214	Interaction with ESR1.|SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				developmental cell growth (GO:0048588)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|protein methylation (GO:0006479)|regulation of androgen receptor signaling pathway (GO:0060765)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (GO:0042054)|histone-arginine N-methyltransferase activity (GO:0008469)|peroxisome proliferator activated receptor binding (GO:0042975)|progesterone receptor binding (GO:0033142)|protein homodimerization activity (GO:0042803)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|retinoic acid receptor binding (GO:0042974)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		AGTGGATGGGGACCTGCCTGC	0.657																																						ENST00000397637.1																			0				NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(640-642)ggG>ggA		protein arginine methyltransferase 2							86.0	57.0	66.0					21																	48069639		2203	4300	6503	SO:0001819	synonymous_variant	3275				developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway	cytosol|nucleus	androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity	g.chr21:48069639G>A	U80213	CCDS13737.1, CCDS56219.1, CCDS56220.1, CCDS68230.1, CCDS68231.1, CCDS74806.1	21q22.3	2014-06-12	2006-02-16	2006-02-16	ENSG00000160310	ENSG00000160310	2.1.1.125	"""Protein arginine methyltransferases"""	5186	protein-coding gene	gene with protein product		601961	"""HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 1"", ""HMT1 hnRNP methyltransferase-like 1 (S. cerevisiae)"""	HRMT1L1		9545638	Standard	XM_005261111		Approved	MGC111373	uc002zjy.3	P55345	OTTHUMG00000048806	ENST00000397637.1:c.642G>A	21.37:g.48069639G>A						PRMT2_ENST00000458387.2_Silent_p.G214G|PRMT2_ENST00000440086.1_Silent_p.G214G|PRMT2_ENST00000397638.2_Silent_p.G214G|PRMT2_ENST00000397628.1_Silent_p.G214G|PRMT2_ENST00000291705.6_Silent_p.G214G|PRMT2_ENST00000355680.3_Silent_p.G214G|PRMT2_ENST00000491389.1_3'UTR|PRMT2_ENST00000334494.4_Silent_p.G214G|PRMT2_ENST00000451211.2_Silent_p.G214G	p.G214G			P55345	ANM2_HUMAN		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)	6	1596	+	Breast(49;0.247)	Lung NSC(3;0.245)	214			Interaction with ESR1.		B7U630|B7U631|B7U632|P78350|Q498Y5|Q5U7D4|Q6FHF0|Q99781|Q9BW15|Q9UMC2	Silent	SNP	ENST00000397637.1	37	c.642G>A	CCDS13737.1	.	.	.	.	.	.	.	.	.	.	.	10.82	1.459335	0.26248	.	.	ENSG00000160310	ENST00000455177	T	0.23950	1.88	4.97	-1.28	0.09318	.	0.000000	0.85682	D	0.000000	T	0.39682	0.1087	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47686	-0.9098	7	0.87932	D	0	-15.4336	12.9639	0.58473	0.082:0.6963:0.2218:0.0	.	.	.	.	E	154	ENSP00000406127:G154E	ENSP00000406127:G154E	G	+	2	0	PRMT2	46894067	0.931000	0.31567	0.998000	0.56505	0.994000	0.84299	-0.231000	0.09069	-0.034000	0.13713	-0.176000	0.13171	GGA		0.657	PRMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207401.1	NM_001535		3	37	0	0	0	1	0	3	37				
USP20	10868	broad.mit.edu	37	9	132631703	132631703	+	Splice_Site	SNP	G	G	A			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr9:132631703G>A	ENST00000315480.4	+	13	1549	c.1391G>A	c.(1390-1392)cGg>cAg	p.R464Q	USP20_ENST00000372429.3_Splice_Site_p.R464Q|USP20_ENST00000358355.1_Splice_Site_p.R464Q			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	464	USP.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				ACCTGTGACCGGGTGGGTGCC	0.667																																						ENST00000315480.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11						c.e13+1		ubiquitin specific peptidase 20							46.0	52.0	50.0					9																	132631703		2057	4202	6259	SO:0001630	splice_region_variant	0				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr9:132631703G>A	AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"""Ubiquitin-specific peptidases"""	12619	protein-coding gene	gene with protein product		615143	"""ubiquitin specific protease 20"""			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.1392+1G>A	9.37:g.132631703G>A						USP20_ENST00000358355.1_Splice_Site_p.R464_splice|USP20_ENST00000372429.3_Splice_Site_p.R464_splice	p.R464_splice			Q9Y2K6	UBP20_HUMAN			13	1549	+		Ovarian(14;0.00556)	464					Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Splice_Site	SNP	ENST00000315480.4	37	c.1392_splice	CCDS43892.1	.	.	.	.	.	.	.	.	.	.	G	36	5.637014	0.96693	.	.	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.30714	1.52;1.52;1.52	5.34	5.34	0.76211	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.213702	0.46442	D	0.000296	T	0.49253	0.1546	L	0.46670	1.46	0.80722	D	1	D	0.76494	0.999	D	0.65573	0.936	T	0.48387	-0.9040	10	0.72032	D	0.01	.	18.0352	0.89298	0.0:0.0:1.0:0.0	.	464	Q9Y2K6	UBP20_HUMAN	Q	464	ENSP00000361506:R464Q;ENSP00000313811:R464Q;ENSP00000351122:R464Q	ENSP00000313811:R464Q	R	+	2	0	USP20	131671524	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.405000	0.97313	2.497000	0.84241	0.655000	0.94253	CGG		0.667	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2		Missense_Mutation	3	94	0	0	0	1	0	3	94				
LOC100288069	100288069	broad.mit.edu	37	1	700532	700532	+	lincRNA	DEL	T	T	-			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr1:700532delT	ENST00000428504.1	-	0	1021				RP11-206L10.5_ENST00000417659.1_lincRNA	NR_033908.1																						aaaaaaaaaaTTCCTTTGGGA	0.453																																						ENST00000428504.1																			0																																																			0							g.chr1:700532delT																													1.37:g.700532delT								NR_033908.1						0	1021	-									RNA	DEL	ENST00000428504.1	37																																																																																						0.453	RP11-206L10.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000006889.1			3	5						3	5	---	---	---	---
LOC101927209	101927209	broad.mit.edu	37	1	142699941	142699942	+	lincRNA	DEL	TA	TA	-	rs376314079|rs376520780		TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr1:142699941_142699942delTA	ENST00000610091.1	-	0	3130																											GAGGAAACACtatatatatata	0.248																																						ENST00000369381.2																			0																																																			0							g.chr1:142699941_142699942delTA																													1.37:g.142699951_142699952delTA														0	2077	-									RNA	DEL	ENST00000610091.1	37																																																																																						0.248	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			3	5						3	5	---	---	---	---
ZBTB47	92999	broad.mit.edu	37	3	42700747	42700749	+	In_Frame_Del	DEL	GGA	GGA	-	rs558162168		TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr3:42700747_42700749delGGA	ENST00000232974.6	+	2	1181_1183	c.900_902delGGA	c.(898-903)cgggag>cgg	p.E307del	ZBTB47_ENST00000457842.3_5'UTR|ZBTB47_ENST00000505904.1_Intron			Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47	307	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		gcagtggacgggaggaggaggag	0.626																																						ENST00000232974.6																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13						c.(898-903)cgg>cg		zinc finger and BTB domain containing 47				143,3833		3,137,1848						1.8	1.0			11	293,7279		9,275,3502	no	coding	ZBTB47	NM_145166.3		12,412,5350	A1A1,A1R,RR		3.8695,3.5966,3.7755				436,11112				SO:0001651	inframe_deletion	92999				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:42700747_42700749delGGA	AB033016	CCDS46805.1, CCDS46805.2	3p22.1	2013-01-08	2006-09-19	2006-09-19	ENSG00000114853	ENSG00000114853		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26955	protein-coding gene	gene with protein product			"""zinc finger protein 651"""	ZNF651		10574461	Standard	NM_145166		Approved	KIAA1190, DKFZp434N0615	uc003clu.2	Q9UFB7	OTTHUMG00000156207	ENST00000232974.6:c.900_902delGGA	3.37:g.42700756_42700758delGGA	ENSP00000232974:p.Glu307del					ZBTB47_ENST00000505904.1_Intron|ZBTB47_ENST00000457842.3_5'UTR	p.RE300del			Q9UFB7	ZBT47_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.216)	2	1181_1183	+			26					H7BXD3|Q6ZSY6|Q8WTY8|Q9ULN0	In_Frame_Del	DEL	ENST00000232974.6	37	c.900_902delGGA	CCDS46805.2																																																																																				0.626	ZBTB47-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343485.3	NM_145166		3	5						3	5	---	---	---	---
TNK2	10188	broad.mit.edu	37	3	195597006	195597006	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr3:195597006delG	ENST00000333602.6	-	11	2139	c.1522delC	c.(1522-1524)cagfs	p.Q508fs	TNK2_ENST00000392400.1_Frame_Shift_Del_p.Q508fs|TNK2_ENST00000381916.2_Frame_Shift_Del_p.Q571fs|TNK2_ENST00000428187.1_Frame_Shift_Del_p.Q540fs	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	508				Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CCTAGATGCTGGGGGGGCCGG	0.612																																						ENST00000333602.6																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(1522-1524)agfs		tyrosine kinase, non-receptor, 2	Adenosine triphosphate(DB00171)		,	38,4126		6,26,2050	15.0	17.0	16.0		,	4.2	1.0	3		17	50,8054		8,34,4010	no	frameshift,frameshift	TNK2	NM_005781.4,NM_001010938.1	,	14,60,6060	A1A1,A1R,RR		0.617,0.9126,0.7173	,	,	195597006	88,12180	2169	4245	6414	SO:0001589	frameshift_variant	10188				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr3:195597006delG	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.1522delC	3.37:g.195597006delG	ENSP00000329425:p.Gln508fs					TNK2_ENST00000428187.1_Frame_Shift_Del_p.Q540fs|TNK2_ENST00000381916.2_Frame_Shift_Del_p.Q571fs|TNK2_ENST00000392400.1_Frame_Shift_Del_p.Q508fs	p.Q508fs	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	11	2139	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	508	Missing (in Ref. 4; AAH08884).				Q6ZMQ0|Q8N6U7|Q96H59	Frame_Shift_Del	DEL	ENST00000333602.6	37	c.1522delC	CCDS33928.1																																																																																				0.612	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		3	6						3	6	---	---	---	---
TNRC18	84629	broad.mit.edu	37	7	5352528	5352530	+	In_Frame_Del	DEL	GAG	GAG	-	rs376153797		TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr7:5352528_5352530delGAG	ENST00000430969.1	-	27	8340_8342	c.7992_7994delCTC	c.(7990-7995)tcctct>tct	p.2664_2665SS>S	TNRC18_ENST00000399537.4_In_Frame_Del_p.2664_2665SS>S	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2664	Ser-rich.						chromatin binding (GO:0003682)	p.S2671delS(2)|p.P1177delP(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		agaggaggaagaggaggaggagg	0.64																																						ENST00000399537.4																			3	Deletion - In frame(3)	p.S2671delS(2)|p.P1177delP(1)	prostate(3)	central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(7990-7995)tct>tc		trinucleotide repeat containing 18				64,3888		3,58,1915						-4.8	0.9			7	110,7474		3,104,3685	no	coding	TNRC18	NM_001080495.2		6,162,5600	A1A1,A1R,RR		1.4504,1.6194,1.5083				174,11362				SO:0001651	inframe_deletion	84629						DNA binding	g.chr7:5352528_5352530delGAG	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.7992_7994delCTC	7.37:g.5352537_5352539delGAG	ENSP00000395538:p.Ser2671del					TNRC18_ENST00000430969.1_In_Frame_Del_p.SS2670del	p.SS2670del			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	27	8340_8342	-		Ovarian(82;0.142)	2670			Ser-rich.		A8MX41|Q96JH1|Q96K91	In_Frame_Del	DEL	ENST00000430969.1	37	c.7992_7994delCTC	CCDS47534.1																																																																																				0.640	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				2	4						2	4	---	---	---	---
SALL2	6297	broad.mit.edu	37	14	21991334	21991336	+	In_Frame_Del	DEL	GGT	GGT	-	rs113881459|rs569568436		TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr14:21991334_21991336delGGT	ENST00000327430.3	-	2	2820_2822	c.2526_2528delACC	c.(2524-2529)ccacct>cct	p.842_843PP>P	SALL2_ENST00000450879.2_In_Frame_Del_p.705_706PP>P|SALL2_ENST00000317492.5_Intron|AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000538754.1_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	842	Poly-Pro.				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(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CAGGCTGTCAGGTGGTGGTGGTG	0.571																																						ENST00000327430.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43						c.(2524-2529)cct>cc		spalt-like transcription factor 2				1,4263		0,1,2131						1.2	0.7			58	6,8248		0,6,4121	no	coding	SALL2	NM_005407.1		0,7,6252	A1A1,A1R,RR		0.0727,0.0235,0.0559				7,12511				SO:0001651	inframe_deletion	6297						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21991334_21991336delGGT	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"""Zinc fingers, C2H2-type"""	10526	protein-coding gene	gene with protein product		602219	"""sal (Drosophila)-like 2"", ""sal-like 2 (Drosophila)"""			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.2526_2528delACC	14.37:g.21991343_21991345delGGT	ENSP00000333537:p.Pro843del					SALL2_ENST00000450879.2_In_Frame_Del_p.PP705del|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron	p.PP842del	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN		GBM - Glioblastoma multiforme(265;0.0151)	2	2820_2822	-	all_cancers(95;0.000662)		842			Poly-Pro.		B2RMX6|B9EGK8|Q8N656|Q9Y4G1	In_Frame_Del	DEL	ENST00000327430.3	37	c.2526_2528delACC	CCDS32045.1																																																																																				0.571	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		7	119						7	119	---	---	---	---
LTB4R2	56413	broad.mit.edu	37	14	24780427	24780428	+	Frame_Shift_Del	DEL	CT	CT	-	rs374257326	byFrequency	TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr14:24780427_24780428delCT	ENST00000528054.1	+	1	2267_2268	c.650_651delCT	c.(649-651)actfs	p.T217fs	CIDEB_ENST00000555817.1_Intron|LTB4R_ENST00000345363.3_5'Flank|CIDEB_ENST00000554411.1_5'Flank|LTB4R2_ENST00000543919.1_Frame_Shift_Del_p.T186fs|CIDEB_ENST00000258807.5_5'UTR|CIDEB_ENST00000336557.5_5'UTR|LTB4R2_ENST00000533293.1_Frame_Shift_Del_p.T186fs|LTB4R_ENST00000396789.4_5'Flank			Q9NPC1	LT4R2_HUMAN	leukotriene B4 receptor 2	217					chemotaxis (GO:0006935)|keratinocyte migration (GO:0051546)|negative regulation of adenylate cyclase activity (GO:0007194)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene B4 receptor activity (GO:0001632)|leukotriene receptor activity (GO:0004974)			endometrium(1)|lung(1)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.018)		AGCCTGGAGACTCTGACCGCTT	0.738														9	0.00179712	0.0	0.0	5008	,	,		13697	0.0079		0.0	False		,,,				2504	0.001					ENST00000528054.1																			0				endometrium(1)|lung(1)|ovary(1)	3						c.(649-651)afs		leukotriene B4 receptor 2			,,	1,4243		0,1,2121					,,	4.5	1.0			21	0,8166		0,0,4083	no	frameshift,utr-5,frameshift	CIDEB,LTB4R2	NM_019839.4,NM_014430.2,NM_001164692.2	,,	0,1,6204	A1A1,A1R,RR		0.0,0.0236,0.0081	,,	,,		1,12409				SO:0001589	frameshift_variant	56413				chemotaxis|negative regulation of adenylate cyclase activity	integral to plasma membrane		g.chr14:24780427_24780428delCT	AB008193	CCDS9625.1, CCDS9625.2	14q12	2014-04-11			ENSG00000213906	ENSG00000213906		"""GPCR / Class A : Leukotriene receptors"""	19260	protein-coding gene	gene with protein product		605773				11006272, 10934229	Standard	NM_001164692		Approved	BLTR2, BLT2, JULF2, NOP9	uc001wor.3	Q9NPC1	OTTHUMG00000186500	ENST00000528054.1:c.650_651delCT	14.37:g.24780429_24780430delCT	ENSP00000432146:p.Thr217fs					CIDEB_ENST00000336557.5_5'UTR|CIDEB_ENST00000258807.5_5'UTR|LTB4R2_ENST00000543919.1_Frame_Shift_Del_p.T186fs|LTB4R2_ENST00000533293.1_Frame_Shift_Del_p.T186fs|CIDEB_ENST00000555817.1_Intron	p.T217fs			Q9NPC1	LT4R2_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	1	2267_2268	+			217					Q5KU28|Q9NPE5	Frame_Shift_Del	DEL	ENST00000528054.1	37	c.650_651delCT																																																																																					0.738	LTB4R2-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000073194.4			7	17						7	17	---	---	---	---
MED9	55090	broad.mit.edu	37	17	17394705	17394707	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr17:17394705_17394707delCAG	ENST00000268711.3	+	2	393_395	c.337_339delCAG	c.(337-339)cagdel	p.Q117del		NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	117						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GAGCCCCGAACAGCAGCAGCAGC	0.581																																						ENST00000268711.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(337-339)del		mediator complex subunit 9																																				SO:0001651	inframe_deletion	55090				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding	g.chr17:17394705_17394707delCAG	BC000647	CCDS11184.1	17p11.2	2007-07-30	2007-07-30		ENSG00000141026	ENSG00000141026			25487	protein-coding gene	gene with protein product		609878	"""mediator of RNA polymerase II transcription, subunit 9 homolog (S. cerevisiae)"""			11997338	Standard	NM_018019		Approved	FLJ10193, MED25	uc002grh.1	Q9NWA0	OTTHUMG00000059293	ENST00000268711.3:c.337_339delCAG	17.37:g.17394714_17394716delCAG	ENSP00000268711:p.Gln117del						p.Q117del	NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN			2	393_395	+			117						In_Frame_Del	DEL	ENST00000268711.3	37	c.337_339delCAG	CCDS11184.1																																																																																				0.581	MED9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131669.2	NM_018019		7	172						7	172	---	---	---	---
CTD-2033D24.2	0	broad.mit.edu	37	17	53627632	53627633	+	RNA	INS	-	-	T			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr17:53627632_53627633insT	ENST00000455347.1	-	0	135				RNU6-1249P_ENST00000363237.1_RNA																							TTGATTGTCTCTTTTTTTTACC	0.376																																						ENST00000455347.1																			0																																																			0							g.chr17:53627632_53627633insT																													17.37:g.53627640_53627640dupT														0	135	-									RNA	INS	ENST00000455347.1	37																																																																																						0.376	CTD-2033D24.2-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000439262.1			2	4						2	4	---	---	---	---
COL5A3	50509	broad.mit.edu	37	19	10108779	10108779	+	Splice_Site	DEL	T	T	-			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr19:10108779delT	ENST00000264828.3	-	9	1242	c.1157delA	c.(1156-1158)aag>ag	p.K386fs	CTD-2553C6.1_ENST00000592332.1_RNA	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	386	Nonhelical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			ACCCCTCACCTTTTCAATCAC	0.552																																						ENST00000264828.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.e9+1		collagen, type V, alpha 3							273.0	254.0	260.0					19																	10108779		2203	4300	6503	SO:0001630	splice_region_variant	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10108779delT	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.1158+1A>-	19.37:g.10108779delT							p.K386_splice	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		9	1242	-			386			Nonhelical region.		Q9NZQ6	Splice_Site	DEL	ENST00000264828.3	37	c.1158_splice	CCDS12222.1																																																																																				0.552	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719	Frame_Shift_Del	7	664						7	664	---	---	---	---
RP1-154K9.2	0	broad.mit.edu	37	X	42384501	42384501	+	lincRNA	DEL	A	A	-	rs58099801		TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chrX:42384501delA	ENST00000411879.1	+	0	523																											ttgtctcaggaaaaaaaaaaa	0.418													|||unknown(HR)	465	0.123179	0.1483	0.0807	3775	,	,		9566	0.0506		0.0398	False		,,,				2504	0.1247					ENST00000411879.1																			0																																																			0							g.chrX:42384501delA																													X.37:g.42384501delA														0	523	+									RNA	DEL	ENST00000411879.1	37																																																																																						0.418	RP1-154K9.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000056295.1			3	2						3	2	---	---	---	---
