#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
TPTE2P2	644623	broad.mit.edu	37	13	52864028	52864028	+	RNA	SNP	C	C	T	rs200454029	byFrequency	TCGA-QT-A5XM-01A-11D-A35D-08	TCGA-QT-A5XM-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b417a8d-25d1-49e0-8de4-d9e58e0af2c0	6e73178e-5d94-4332-b642-74b6c3da2990	g.chr13:52864028C>T	ENST00000451298.1	-	0	141																											TAGAATGATACTCCAAAGGAA	0.313																																						ENST00000451298.1																			0																																																			644623							g.chr13:52864028C>T																													13.37:g.52864028C>T						RP11-64P12.8_ENST00000606031.1_RNA								0	141	-									RNA	SNP	ENST00000451298.1	37																																																																																						0.313	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000471093.1			3	31	0	0	0	1	0	3	31				
ANXA5	308	broad.mit.edu	37	4	122590847	122590847	+	Missense_Mutation	SNP	T	T	G			TCGA-QT-A5XM-01A-11D-A35D-08	TCGA-QT-A5XM-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b417a8d-25d1-49e0-8de4-d9e58e0af2c0	6e73178e-5d94-4332-b642-74b6c3da2990	g.chr4:122590847T>G	ENST00000296511.5	-	12	1098	c.813A>C	c.(811-813)agA>agC	p.R271S	ANXA5_ENST00000501272.2_Missense_Mutation_p.R211S|ANXA5_ENST00000515017.1_Missense_Mutation_p.R171S	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN	annexin A5	271					blood coagulation (GO:0007596)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of coagulation (GO:0050819)|response to organic substance (GO:0010033)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipase inhibitor activity (GO:0004859)|phospholipid binding (GO:0005543)			NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						AAACCATGACTCTGATGAGGG	0.373																																					Pancreas(191;1279 2147 16046 17806 52646)|GBM(88;628 1285 16585 32846 50188)	ENST00000296511.5																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						c.(811-813)agA>agC		annexin A5							104.0	104.0	104.0					4																	122590847		2203	4300	6503	SO:0001583	missense	308				anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity	g.chr4:122590847T>G	U05770	CCDS3720.1	4q27	2008-02-05			ENSG00000164111	ENSG00000164111		"""Annexins"""	543	protein-coding gene	gene with protein product		131230		ENX2, ANX5		2960376	Standard	NM_001154		Approved		uc003idv.4	P08758	OTTHUMG00000133034	ENST00000296511.5:c.813A>C	4.37:g.122590847T>G	ENSP00000296511:p.Arg271Ser					ANXA5_ENST00000515017.1_Missense_Mutation_p.R171S|ANXA5_ENST00000501272.2_Missense_Mutation_p.R211S	p.R271S	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN			12	1098	-			271					D3DNW7|Q6FHB3|Q6FI16|Q8WV69|Q9UDH9	Missense_Mutation	SNP	ENST00000296511.5	37	c.813A>C	CCDS3720.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.311300	0.81358	.	.	ENSG00000164111	ENST00000296511;ENST00000501272;ENST00000515017	T;T;T	0.20200	2.09;2.09;2.09	5.92	2.01	0.26516	Annexin repeat, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.50034	0.1592	M	0.90922	3.16	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.989;0.989	T	0.51919	-0.8644	10	0.87932	D	0	.	9.2519	0.37560	0.0:0.2231:0.0:0.7769	.	171;211;271	D6RBE9;D6RBL5;P08758	.;.;ANXA5_HUMAN	S	271;211;171	ENSP00000296511:R271S;ENSP00000424106:R211S;ENSP00000424199:R171S	ENSP00000296511:R271S	R	-	3	2	ANXA5	122810297	1.000000	0.71417	0.933000	0.37362	0.997000	0.91878	1.840000	0.39230	0.116000	0.18110	0.459000	0.35465	AGA		0.373	ANXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256636.2	NM_001154		32	75	0	0	0	1	0	32	75				
H2BFWT	158983	broad.mit.edu	37	X	103267771	103267771	+	Silent	SNP	G	G	A	rs139759218		TCGA-QT-A5XM-01A-11D-A35D-08	TCGA-QT-A5XM-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b417a8d-25d1-49e0-8de4-d9e58e0af2c0	6e73178e-5d94-4332-b642-74b6c3da2990	g.chrX:103267771G>A	ENST00000217926.5	-	1	488	c.462C>T	c.(460-462)gcC>gcT	p.A154A	H2BFM_ENST00000243297.5_5'Flank	NM_001002916.3	NP_001002916.3	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	154						membrane (GO:0016020)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						CTTCGGACTCGGCGAGCTTGC	0.662																																						ENST00000217926.5																			0				breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						c.(460-462)gcC>gcT		H2B histone family, member W, testis-specific		G		0,3831		0,0,1631,569	32.0	33.0	32.0		462	-2.4	0.0	X	dbSNP_134	32	1,6720		0,1,2425,1869	no	coding-synonymous	H2BFWT	NM_001002916.3		0,1,4056,2438	AA,AG,GG,G		0.0149,0.0,0.0095		154/176	103267771	1,10551	2200	4295	6495	SO:0001819	synonymous_variant	158983				nucleosome assembly	nuclear membrane|nucleosome	DNA binding	g.chrX:103267771G>A	BC038109	CCDS35362.1	Xq22.2	2011-01-27			ENSG00000123569	ENSG00000123569		"""Histones / Replication-independent"""	27252	protein-coding gene	gene with protein product		300507				12477932	Standard	NM_001002916		Approved		uc004elr.3	Q7Z2G1	OTTHUMG00000022120	ENST00000217926.5:c.462C>T	X.37:g.103267771G>A							p.A154A	NM_001002916.3	NP_001002916.2	Q7Z2G1	H2BWT_HUMAN			1	488	-			154					B1AK72|Q147W3	Silent	SNP	ENST00000217926.5	37	c.462C>T	CCDS35362.1																																																																																				0.662	H2BFWT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057756.2	NM_001002916		9	24	0	0	0	1	0	9	24				
DPY19L2P1	554236	broad.mit.edu	37	7	35130010	35130010	+	RNA	SNP	T	T	C			TCGA-QT-A5XM-01A-11D-A35D-08	TCGA-QT-A5XM-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b417a8d-25d1-49e0-8de4-d9e58e0af2c0	6e73178e-5d94-4332-b642-74b6c3da2990	g.chr7:35130010T>C	ENST00000436258.1	-	0	3359							Q6NXN4	D19P1_HUMAN	DPY19L2 pseudogene 1							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										TCCTACTTCTTTGGCAGATTT	0.289																																						ENST00000436258.1																			0																																																			554236							g.chr7:35130010T>C	BC066987		7p14.2	2014-03-18	2013-09-12		ENSG00000189212	ENSG00000189212			22305	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 1 (C. elegans)"""				Standard	NR_002833		Approved		uc031swy.1	Q6NXN4	OTTHUMG00000155026		7.37:g.35130010T>C														0	3359	-								B4E2E3	RNA	SNP	ENST00000436258.1	37																																																																																						0.289	DPY19L2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338113.1			6	239	0	0	0	1	0	6	239				
MKI67	4288	broad.mit.edu	37	10	129904639	129904639	+	Missense_Mutation	SNP	C	C	T	rs200958563		TCGA-QT-A5XM-01A-11D-A35D-08	TCGA-QT-A5XM-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b417a8d-25d1-49e0-8de4-d9e58e0af2c0	6e73178e-5d94-4332-b642-74b6c3da2990	g.chr10:129904639C>T	ENST00000368654.3	-	13	5840	c.5465G>A	c.(5464-5466)cGt>cAt	p.R1822H	MKI67_ENST00000368653.3_Missense_Mutation_p.R1462H	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1822	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTTTTCCTTACGAGTTTGTAG	0.473																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(5464-5466)cGt>cAt		marker of proliferation Ki-67		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	192.0	186.0	188.0		4385,5465	-0.3	0.0	10		188	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	MKI67	NM_001145966.1,NM_002417.4	29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	1462/2897,1822/3257	129904639	2,13004	2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129904639C>T	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.5465G>A	10.37:g.129904639C>T	ENSP00000357643:p.Arg1822His					MKI67_ENST00000368653.3_Missense_Mutation_p.R1462H	p.R1822H	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	5840	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1822			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.5465G>A	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	7.105	0.574936	0.13623	0.0	2.33E-4	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02140	4.43;4.43	2.9	-0.288	0.12855	.	1.559940	0.04329	N	0.352019	T	0.01558	0.0050	N	0.08118	0	0.09310	N	1	B;D;P	0.55385	0.001;0.971;0.807	B;B;B	0.43575	0.002;0.424;0.261	T	0.33599	-0.9862	10	0.39692	T	0.17	.	2.7888	0.05381	0.1075:0.1809:0.5294:0.1822	.	1821;1462;1822	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	H	1822;1462;1821	ENSP00000357643:R1822H;ENSP00000357642:R1462H	ENSP00000357642:R1462H	R	-	2	0	MKI67	129794629	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.209000	0.09358	-0.195000	0.10382	-1.371000	0.01190	CGT		0.473	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		7	161	0	0	0	1	0	7	161				
EIF3L	51386	broad.mit.edu	37	22	38273774	38273774	+	Missense_Mutation	SNP	C	C	T			TCGA-QT-A5XM-01A-11D-A35D-08	TCGA-QT-A5XM-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b417a8d-25d1-49e0-8de4-d9e58e0af2c0	6e73178e-5d94-4332-b642-74b6c3da2990	g.chr22:38273774C>T	ENST00000412331.2	+	11	1753	c.1171C>T	c.(1171-1173)Cgg>Tgg	p.R391W	EIF3L_ENST00000381683.6_Missense_Mutation_p.R343W|EIF3L_ENST00000406934.1_Missense_Mutation_p.R293W	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L											kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CCTCCAGCTGCGGGAGAAATA	0.512																																						ENST00000412331.2																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1171-1173)Cgg>Tgg		eukaryotic translation initiation factor 3, subunit L							100.0	83.0	89.0					22																	38273774		2203	4300	6503	SO:0001583	missense	51386					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr22:38273774C>T	AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"""eukaryotic translation initiation factor 3, subunit 6 interacting protein"", ""eukaryotic translation initiation factor 3, subunit E interacting protein"""	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.1171C>T	22.37:g.38273774C>T	ENSP00000416892:p.Arg391Trp					EIF3L_ENST00000406934.1_Missense_Mutation_p.R293W|EIF3L_ENST00000381683.6_Missense_Mutation_p.R343W	p.R391W	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN			11	1753	+			391						Missense_Mutation	SNP	ENST00000412331.2	37	c.1171C>T	CCDS13960.1	.	.	.	.	.	.	.	.	.	.	c	18.94	3.730614	0.69074	.	.	ENSG00000100129	ENST00000412331;ENST00000425539;ENST00000381683;ENST00000262832;ENST00000406934	T;T;T	0.47528	0.84;0.84;0.84	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.72187	0.3429	M	0.89414	3.03	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.964;0.939;0.992;0.994	T	0.78001	-0.2375	10	0.87932	D	0	-22.6805	13.5371	0.61652	0.156:0.844:0.0:0.0	.	343;293;391;434	B4DYB2;B0QY90;Q9Y262;B0QY89	.;.;EIF3L_HUMAN;.	W	391;434;343;358;293	ENSP00000416892:R391W;ENSP00000371099:R343W;ENSP00000384634:R293W	ENSP00000262832:R358W	R	+	1	2	EIF3L	36603720	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	2.240000	0.43088	2.436000	0.82500	0.436000	0.28706	CGG		0.512	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319551.2	NM_016091		22	27	0	0	0	1	0	22	27				
RET	5979	broad.mit.edu	37	10	43617416	43617416	+	Missense_Mutation	SNP	T	T	C	rs74799832		TCGA-QT-A5XM-01A-11D-A35D-08	TCGA-QT-A5XM-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b417a8d-25d1-49e0-8de4-d9e58e0af2c0	6e73178e-5d94-4332-b642-74b6c3da2990	g.chr10:43617416T>C	ENST00000355710.3	+	16	2985	c.2753T>C	c.(2752-2754)aTg>aCg	p.M918T	RET_ENST00000340058.5_Missense_Mutation_p.M918T	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	918	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		M -> T (in MEN2B and MTC; sporadic form; somatic mutation; also found in a patient with renal agenesis; dbSNP:rs74799832). {ECO:0000269|PubMed:18252215, ECO:0000269|PubMed:7906417, ECO:0000269|PubMed:7906866, ECO:0000269|PubMed:7911697, ECO:0000269|PubMed:8595427, ECO:0000269|PubMed:8807338}.		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.M918T(247)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	GTTAAATGGATGGCAATTGAA	0.443		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"""T, Mis, N, F"""	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	CCDC6/RET(4)|KIF5B/RET(79)	247	Substitution - Missense(247)	p.M918T(247)	thyroid(231)|adrenal_gland(16)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607	GRCh37	CM941246	RET	M	rs74799832	c.(2752-2754)aTg>aCg		ret proto-oncogene	Sunitinib(DB01268)						262.0	244.0	250.0					10																	43617416		2203	4300	6503	SO:0001583	missense	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43617416T>C	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.2753T>C	10.37:g.43617416T>C	ENSP00000347942:p.Met918Thr					RET_ENST00000340058.5_Missense_Mutation_p.M918T	p.M918T	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			16	2985	+		Ovarian(717;0.0423)	918		M -> T (in RADYS, MEN2B and MTC; sporadic form; somatic mutation).	Protein kinase.		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.2753T>C	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.427864	0.83667	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	D;D	0.90504	-2.68;-2.68	5.43	5.43	0.79202	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93719	0.7993	L	0.52126	1.63	0.80722	A	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.94557	0.7759	9	0.87932	D	0	.	15.7766	0.78224	0.0:0.0:0.0:1.0	.	664;918;918	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	T	918	ENSP00000347942:M918T;ENSP00000344798:M918T	ENSP00000344798:M918T	M	+	2	0	RET	42937422	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.986000	0.88173	2.198000	0.70561	0.533000	0.62120	ATG		0.443	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		39	109	0	0	0	1	0	39	109				
FRG1B	284802	broad.mit.edu	37	20	29633900	29633900	+	Missense_Mutation	SNP	A	A	G	rs60081496		TCGA-QT-A5XM-01A-11D-A35D-08	TCGA-QT-A5XM-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b417a8d-25d1-49e0-8de4-d9e58e0af2c0	6e73178e-5d94-4332-b642-74b6c3da2990	g.chr20:29633900A>G	ENST00000278882.3	+	9	919	c.539A>G	c.(538-540)gAa>gGa	p.E180G	FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	180								p.E180G(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAAACAAGAGAACCAAATTGA	0.264																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.E180G(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(538-540)gAa>gGa																																						SO:0001583	missense	284802							g.chr20:29633900A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.539A>G	20.37:g.29633900A>G	ENSP00000278882:p.Glu180Gly					FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G	p.E180G							9	919	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.539A>G		.	.	.	.	.	.	.	.	.	.	a	9.128	1.010735	0.19277	.	.	ENSG00000149531	ENST00000278882;ENST00000358464	.	.	.	1.62	1.62	0.23740	.	.	.	.	.	T	0.41351	0.1155	.	.	.	0.21697	N	0.999586	.	.	.	.	.	.	T	0.36625	-0.9740	5	0.87932	D	0	.	7.2988	0.26408	1.0:0.0:0.0:0.0	rs60081496	.	.	.	G	180	.	ENSP00000278882:E180G	E	+	2	0	FRG1B	28247561	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	4.560000	0.60802	0.995000	0.38917	0.411000	0.27672	GAA		0.264	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	73	0	0	0	1	0	6	73				
C19orf43	79002	broad.mit.edu	37	19	12842217	12842217	+	Missense_Mutation	SNP	C	C	T	rs186539758		TCGA-QT-A5XM-01A-11D-A35D-08	TCGA-QT-A5XM-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b417a8d-25d1-49e0-8de4-d9e58e0af2c0	6e73178e-5d94-4332-b642-74b6c3da2990	g.chr19:12842217C>T	ENST00000242784.4	-	2	481	c.364G>A	c.(364-366)Ggg>Agg	p.G122R	C19orf43_ENST00000588213.1_Missense_Mutation_p.R114Q|C19orf43_ENST00000592273.1_Intron	NM_024038.2	NP_076943.1	Q9BQ61	CS043_HUMAN	chromosome 19 open reading frame 43	122										endometrium(2)|large_intestine(2)	4						AGTTTGTTCCCGCCTCTGCGT	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		16684	0.001		0.0	False		,,,				2504	0.0					ENST00000242784.4																			0				endometrium(2)|large_intestine(2)	4						c.(364-366)Ggg>Agg		chromosome 19 open reading frame 43							151.0	123.0	133.0					19																	12842217		2203	4300	6503	SO:0001583	missense	79002							g.chr19:12842217C>T	AK027588	CCDS12279.1	19p13.2	2011-11-24			ENSG00000123144	ENSG00000123144			28424	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 18"""					12477932	Standard	NM_024038		Approved	MGC2803, fSAP18	uc002muu.3	Q9BQ61		ENST00000242784.4:c.364G>A	19.37:g.12842217C>T	ENSP00000242784:p.Gly122Arg					C19orf43_ENST00000588213.1_Missense_Mutation_p.R114Q|C19orf43_ENST00000592273.1_Intron	p.G122R	NM_024038.2	NP_076943.1	Q9BQ61	CS043_HUMAN			2	481	-			122						Missense_Mutation	SNP	ENST00000242784.4	37	c.364G>A	CCDS12279.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	27.1	4.799070	0.90538	.	.	ENSG00000123144	ENST00000242784	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.78591	0.4307	M	0.66297	2.02	0.37342	D	0.910419	D	0.89917	1.0	D	0.97110	1.0	T	0.82853	-0.0252	9	0.87932	D	0	-13.0597	18.0139	0.89232	0.0:1.0:0.0:0.0	.	122	Q9BQ61	CS043_HUMAN	R	122	.	ENSP00000242784:G122R	G	-	1	0	C19orf43	12703217	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.122000	0.77169	2.534000	0.85438	0.655000	0.94253	GGG		0.597	C19orf43-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450856.1	NM_024038		4	46	0	0	0	1	0	4	46				
VARS2	57176	broad.mit.edu	37	6	30893361	30893361	+	Silent	SNP	C	C	T			TCGA-QT-A5XM-01A-11D-A35D-08	TCGA-QT-A5XM-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b417a8d-25d1-49e0-8de4-d9e58e0af2c0	6e73178e-5d94-4332-b642-74b6c3da2990	g.chr6:30893361C>T	ENST00000321897.5	+	27	3458	c.2826C>T	c.(2824-2826)ttC>ttT	p.F942F	VARS2_ENST00000541562.1_Silent_p.F972F|VARS2_ENST00000542001.1_Silent_p.F802F|VARS2_ENST00000416670.2_Silent_p.F942F|VARS2_ENST00000476162.1_3'UTR			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	942					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						AGGGCCTCTTCGAGGCCTTCT	0.667																																						ENST00000321897.5																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						c.(2824-2826)ttC>ttT		valyl-tRNA synthetase 2, mitochondrial							22.0	27.0	25.0					6																	30893361		1486	2696	4182	SO:0001819	synonymous_variant	57176				valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	g.chr6:30893361C>T	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	21642	protein-coding gene	gene with protein product	"""valine tRNA ligase 2, mitochondrial"""	612802	"""valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)"""	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.2826C>T	6.37:g.30893361C>T						VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000541562.1_Silent_p.F972F|VARS2_ENST00000416670.2_Silent_p.F942F|VARS2_ENST00000542001.1_Silent_p.F802F	p.F942F			Q5ST30	SYVM_HUMAN			27	3458	+			942					A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Silent	SNP	ENST00000321897.5	37	c.2826C>T	CCDS34387.1																																																																																				0.667	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442		13	33	0	0	0	1	0	13	33				
GLUD1P2	100381203	broad.mit.edu	37	10	48968566	48968566	+	RNA	SNP	A	A	G	rs201727873		TCGA-QT-A5XM-01A-11D-A35D-08	TCGA-QT-A5XM-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b417a8d-25d1-49e0-8de4-d9e58e0af2c0	6e73178e-5d94-4332-b642-74b6c3da2990	g.chr10:48968566A>G	ENST00000594520.1	+	0	723									glutamate dehydrogenase 1 pseudogene 2																		ACAGGATAACAAACTGGAAAA	0.318																																						ENST00000594520.1																			0																																																			414212							g.chr10:48968566A>G	X66313, X66315, X66319		10q11.22	2013-02-15	2010-01-18	2010-01-18	ENSG00000227781				4337	pseudogene	pseudogene			"""glutamate dehydrogenase pseudogene 2"""	GLUDP2		8486350	Standard			Approved				OTTHUMG00000018156		10.37:g.48968566A>G														0	723	+									RNA	SNP	ENST00000594520.1	37																																																																																						0.318	GLUD1P2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000461126.1	NG_016765		4	26	0	0	0	1	0	4	26				
GIPC2	54810	broad.mit.edu	37	1	78546456	78546456	+	Missense_Mutation	SNP	G	G	A			TCGA-QT-A5XM-01A-11D-A35D-08	TCGA-QT-A5XM-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b417a8d-25d1-49e0-8de4-d9e58e0af2c0	6e73178e-5d94-4332-b642-74b6c3da2990	g.chr1:78546456G>A	ENST00000370759.3	+	2	531	c.338G>A	c.(337-339)gGa>gAa	p.G113E	GIPC2_ENST00000476882.1_3'UTR	NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN	GIPC PDZ domain containing family, member 2	113						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						CATGTGAAAGGAATCGAAAAA	0.343																																						ENST00000370759.3																			0				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						c.(337-339)gGa>gAa		GIPC PDZ domain containing family, member 2							122.0	125.0	124.0					1																	78546456		2203	4299	6502	SO:0001583	missense	54810					cytoplasm		g.chr1:78546456G>A	AB073737	CCDS685.1	1p31.1	2010-05-28			ENSG00000137960	ENSG00000137960			18177	protein-coding gene	gene with protein product	"""semaphorin cytoplasmic domain associated protein 2"""					11836570	Standard	NM_017655		Approved	FLJ20075, SEMCAP-2	uc001dik.3	Q8TF65	OTTHUMG00000041145	ENST00000370759.3:c.338G>A	1.37:g.78546456G>A	ENSP00000359795:p.Gly113Glu					GIPC2_ENST00000476882.1_3'UTR	p.G113E	NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN			2	531	+			113					Q8IYD3|Q9NXS7	Missense_Mutation	SNP	ENST00000370759.3	37	c.338G>A	CCDS685.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.134228	0.77662	.	.	ENSG00000137960	ENST00000370759	T	0.39229	1.09	6.16	6.16	0.99307	PDZ/DHR/GLGF (1);	0.000000	0.85682	D	0.000000	T	0.67411	0.2890	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69723	-0.5068	10	0.87932	D	0	-0.4158	20.8598	0.99761	0.0:0.0:1.0:0.0	.	113	Q8TF65	GIPC2_HUMAN	E	113	ENSP00000359795:G113E	ENSP00000359795:G113E	G	+	2	0	GIPC2	78319044	1.000000	0.71417	0.991000	0.47740	0.312000	0.27988	9.476000	0.97823	2.937000	0.99478	0.650000	0.86243	GGA		0.343	GIPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098629.1	NM_017655		3	36	0	0	0	1	0	3	36				
DAZAP2	9802	broad.mit.edu	37	12	51636117	51636117	+	Missense_Mutation	SNP	C	C	T			TCGA-QT-A5XM-01A-11D-A35D-08	TCGA-QT-A5XM-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b417a8d-25d1-49e0-8de4-d9e58e0af2c0	6e73178e-5d94-4332-b642-74b6c3da2990	g.chr12:51636117C>T	ENST00000412716.3	+	4	998	c.382C>T	c.(382-384)Cca>Tca	p.P128S	DAZAP2_ENST00000549555.1_Missense_Mutation_p.S102F|DAZAP2_ENST00000549732.2_Missense_Mutation_p.P96S|DAZAP2_ENST00000551313.1_Missense_Mutation_p.P68S|DAZAP2_ENST00000449723.3_Missense_Mutation_p.P106S|DAZAP2_ENST00000425012.2_Intron|DAZAP2_ENST00000551534.1_3'UTR|DAZAP2_ENST00000439799.2_Missense_Mutation_p.P46S|DAZAP2_ENST00000604900.1_Intron			Q15038	DAZP2_HUMAN	DAZ associated protein 2	128	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	WW domain binding (GO:0050699)			haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)	6						CTTTCAGCCTCCACCTCCTGG	0.542																																						ENST00000412716.3																			0				haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)	6						c.(382-384)Cca>Tca		DAZ associated protein 2							332.0	329.0	330.0					12																	51636117		2203	4300	6503	SO:0001583	missense	9802						WW domain binding	g.chr12:51636117C>T	D31767	CCDS8809.1, CCDS44884.1, CCDS44885.1, CCDS44886.1, CCDS44887.1, CCDS44888.1	12q13.13	2012-04-04			ENSG00000183283	ENSG00000183283			2684	protein-coding gene	gene with protein product		607431				10857750, 7584044	Standard	NM_014764		Approved	KIAA0058	uc010snd.2	Q15038	OTTHUMG00000169649	ENST00000412716.3:c.382C>T	12.37:g.51636117C>T	ENSP00000394699:p.Pro128Ser					DAZAP2_ENST00000604900.1_Intron|DAZAP2_ENST00000425012.2_Intron|DAZAP2_ENST00000549732.2_Missense_Mutation_p.P96S|DAZAP2_ENST00000549555.1_Missense_Mutation_p.S102F|DAZAP2_ENST00000551534.1_3'UTR|DAZAP2_ENST00000439799.2_Missense_Mutation_p.P46S|DAZAP2_ENST00000551313.1_Missense_Mutation_p.P68S|DAZAP2_ENST00000449723.3_Missense_Mutation_p.P106S	p.P128S			Q15038	DAZP2_HUMAN			4	998	+			128			Pro-rich.		A8K254|B4DDT5|B4E1G3|C9JA96|C9JP84|E9PB45|F8VU62	Missense_Mutation	SNP	ENST00000412716.3	37	c.382C>T	CCDS8809.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.967881|3.967881	0.74131|0.74131	.|.	.|.	ENSG00000183283|ENSG00000183283	ENST00000412716;ENST00000439799;ENST00000549732;ENST00000449723;ENST00000551313|ENST00000549555	T;T;T;T;T|T	0.66815|0.51325	-0.23;-0.23;-0.23;-0.23;-0.23|0.71	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59851|0.59851	0.2224|0.2224	M|M	0.77486|0.77486	2.375|2.375	0.80722|0.80722	D|D	1|1	D;D;D|D	0.76494|0.54207	0.999;0.991;0.997|0.965	D;D;D|P	0.87578|0.47981	0.998;0.96;0.992|0.563	T|T	0.66878|0.66878	-0.5812|-0.5812	10|9	0.41790|0.87932	T|D	0.15|0	-2.6768|-2.6768	18.4195|18.4195	0.90584|0.90584	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	96;46;128|102	C9JP84;C9JA96;Q15038|F8VU62	.;.;DAZP2_HUMAN|.	S|F	128;46;96;106;68|102	ENSP00000394699:P128S;ENSP00000398804:P46S;ENSP00000446554:P96S;ENSP00000412812:P106S;ENSP00000447842:P68S|ENSP00000448051:S102F	ENSP00000394699:P128S|ENSP00000448051:S102F	P|S	+|+	1|2	0|0	DAZAP2|DAZAP2	49922384|49922384	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.969000|6.969000	0.76092|0.76092	2.726000|2.726000	0.93360|0.93360	0.655000|0.655000	0.94253|0.94253	CCA|TCC		0.542	DAZAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405259.2	NM_014764		88	235	0	0	0	1	0	88	235				
ESPN	83715	broad.mit.edu	37	1	6512081	6512081	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QT-A5XM-01A-11D-A35D-08	TCGA-QT-A5XM-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b417a8d-25d1-49e0-8de4-d9e58e0af2c0	6e73178e-5d94-4332-b642-74b6c3da2990	g.chr1:6512081delC	ENST00000377828.1	+	10	2418	c.2250delC	c.(2248-2250)atcfs	p.I750fs	ESPN_ENST00000475228.1_3'UTR|ESPN_ENST00000416731.1_Frame_Shift_Del_p.I184fs|ESPN_ENST00000461727.1_Frame_Shift_Del_p.I184fs	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	750					locomotory behavior (GO:0007626)|negative regulation of cytoskeleton organization (GO:0051494)|parallel actin filament bundle assembly (GO:0030046)|positive regulation of filopodium assembly (GO:0051491)|sensory perception of sound (GO:0007605)	brush border (GO:0005903)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|microvillus (GO:0005902)|stereocilium bundle tip (GO:0032426)	actin filament binding (GO:0051015)|SH3 domain binding (GO:0017124)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		GCCGGCCCATCCCCGAGTGGA	0.672																																						ENST00000377828.1																			0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17						c.(2248-2250)atfs		espin							17.0	20.0	19.0					1																	6512081		2200	4298	6498	SO:0001589	frameshift_variant	83715				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding	g.chr1:6512081delC	AF134401	CCDS70.1	1p36.31	2013-01-10			ENSG00000187017	ENSG00000187017		"""Ankyrin repeat domain containing"""	13281	protein-coding gene	gene with protein product		606351	"""deafness, autosomal recessive 36"""	DFNB36		10975527, 15286153	Standard	NM_031475		Approved		uc001amy.3	B1AK53	OTTHUMG00000000753	ENST00000377828.1:c.2250delC	1.37:g.6512081delC	ENSP00000367059:p.Ile750fs					ESPN_ENST00000416731.1_Frame_Shift_Del_p.I184fs|ESPN_ENST00000461727.1_Frame_Shift_Del_p.I184fs|ESPN_ENST00000475228.1_3'UTR	p.I750fs	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)	10	2418	+	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)	750					Q6XYB2|Q9H0A2|Q9Y329	Frame_Shift_Del	DEL	ENST00000377828.1	37	c.2250delC	CCDS70.1																																																																																				0.672	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001887.3	NM_031475		2	4						2	4	---	---	---	---
ECHDC2	55268	broad.mit.edu	37	1	53387326	53387326	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QT-A5XM-01A-11D-A35D-08	TCGA-QT-A5XM-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b417a8d-25d1-49e0-8de4-d9e58e0af2c0	6e73178e-5d94-4332-b642-74b6c3da2990	g.chr1:53387326delA	ENST00000371522.4	-	1	113	c.20delT	c.(19-21)ctcfs	p.L8fs	ECHDC2_ENST00000541281.1_5'UTR|ECHDC2_ENST00000358358.5_Frame_Shift_Del_p.L8fs|ECHDC2_ENST00000480312.2_5'Flank|ECHDC2_ENST00000536120.1_5'UTR	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	8					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	lyase activity (GO:0016829)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						GGGGCGCAGGAGGCACAGAAC	0.736																																						ENST00000371522.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						c.(19-21)ccfs		enoyl CoA hydratase domain containing 2							4.0	6.0	5.0					1																	53387326		2066	4157	6223	SO:0001589	frameshift_variant	55268				fatty acid metabolic process	mitochondrion	lyase activity	g.chr1:53387326delA	AF258590	CCDS571.1, CCDS55600.1, CCDS72794.1	1p32.3	2010-04-30	2010-04-30		ENSG00000121310	ENSG00000121310			23408	protein-coding gene	gene with protein product			"""enoyl Coenzyme A hydratase domain containing 2"""				Standard	NM_018281		Approved	FLJ10948	uc001cup.4	Q86YB7	OTTHUMG00000008927	ENST00000371522.4:c.20delT	1.37:g.53387326delA	ENSP00000360577:p.Leu8fs					ECHDC2_ENST00000541281.1_5'UTR|ECHDC2_ENST00000536120.1_5'UTR|ECHDC2_ENST00000358358.5_Frame_Shift_Del_p.L8fs	p.L8fs	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN			1	113	-			8					D3DQ36|Q9NV38	Frame_Shift_Del	DEL	ENST00000371522.4	37	c.20delT	CCDS55600.1																																																																																				0.736	ECHDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024712.3	NM_018281		2	4						2	4	---	---	---	---
AC027612.3	0	broad.mit.edu	37	2	91887905	91887906	+	RNA	INS	-	-	T	rs374250838|rs369805878|rs199562278	byFrequency	TCGA-QT-A5XM-01A-11D-A35D-08	TCGA-QT-A5XM-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b417a8d-25d1-49e0-8de4-d9e58e0af2c0	6e73178e-5d94-4332-b642-74b6c3da2990	g.chr2:91887905_91887906insT	ENST00000436174.1	-	0	540																											GCTATTTTCCATTTTTTTTTTT	0.292														393	0.0784744	0.1354	0.0533	5008	,	,		61150	0.0546		0.0567	False		,,,				2504	0.0665					ENST00000436174.1																			0																																																			0							g.chr2:91887905_91887906insT																													2.37:g.91887916_91887916dupT														0	540	-									RNA	INS	ENST00000436174.1	37																																																																																						0.292	AC027612.3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338339.1			9	39						9	39	---	---	---	---
TNS1	7145	broad.mit.edu	37	2	218712887	218712889	+	In_Frame_Del	DEL	GCT	GCT	-	rs375721540|rs574153391		TCGA-QT-A5XM-01A-11D-A35D-08	TCGA-QT-A5XM-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b417a8d-25d1-49e0-8de4-d9e58e0af2c0	6e73178e-5d94-4332-b642-74b6c3da2990	g.chr2:218712887_218712889delGCT	ENST00000171887.4	-	17	2428_2430	c.1976_1978delAGC	c.(1975-1980)cagcct>cct	p.Q659del	TNS1_ENST00000419504.1_In_Frame_Del_p.Q659del|TNS1_ENST00000480665.1_5'Flank|TNS1_ENST00000430930.1_In_Frame_Del_p.Q659del	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	659	Gln-rich.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGTGGGCGAGgctgctgctgctg	0.66																																						ENST00000171887.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(1975-1980)cct>c		tensin 1																																				SO:0001651	inframe_deletion	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218712887_218712889delGCT	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.1976_1978delAGC	2.37:g.218712896_218712898delGCT	ENSP00000171887:p.Gln659del					TNS1_ENST00000419504.1_In_Frame_Del_p.QP659del|TNS1_ENST00000430930.1_In_Frame_Del_p.QP659del	p.QP659del	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	17	2428_2430	-		Renal(207;0.0483)|Lung NSC(271;0.213)	659			Gln-rich.		Q4ZG71|Q6IPI5	In_Frame_Del	DEL	ENST00000171887.4	37	c.1976_1978delAGC	CCDS2407.1																																																																																				0.660	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		4	6						4	6	---	---	---	---
RP11-254I22.1	0	broad.mit.edu	37	5	95414786	95414787	+	lincRNA	INS	-	-	TAAAA	rs34328926|rs80243332|rs60523167|rs5869706	byFrequency	TCGA-QT-A5XM-01A-11D-A35D-08	TCGA-QT-A5XM-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b417a8d-25d1-49e0-8de4-d9e58e0af2c0	6e73178e-5d94-4332-b642-74b6c3da2990	g.chr5:95414786_95414787insTAAAA	ENST00000507997.1	+	0	87				MIR583_ENST00000384846.1_RNA|CTD-2337A12.1_ENST00000502645.2_RNA|CTD-2337A12.1_ENST00000511775.1_RNA																							acccatgcacttaaagttaaaa	0.361														2975	0.59405	0.7156	0.4813	5008	,	,		22499	0.495		0.6362	False		,,,				2504	0.5685					ENST00000507997.1																			0																	2353,1165		895,563,301						0.2	0.1		dbSNP_114	36	3841,2837		1367,1107,865	no	intergenic				2262,1670,1166	A1A1,A1R,RR		42.4828,33.1154,39.2507				6194,4002						0							g.chr5:95414786_95414787insTAAAA																													5.37:g.95414786_95414787insTAAAA						CTD-2337A12.1_ENST00000502645.2_RNA|CTD-2337A12.1_ENST00000511775.1_RNA								0	87	+									RNA	INS	ENST00000507997.1	37																																																																																						0.361	RP11-254I22.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000370578.1			5	4						5	4	---	---	---	---
