#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
F11R	50848	broad.mit.edu	37	1	160971131	160971131	+	Missense_Mutation	SNP	A	A	G			TCGA-RW-A68B-01A-11D-A35D-08	TCGA-RW-A68B-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4afc3d13-ad9f-4900-8507-b37de18d0347	dc696df8-0c64-4c3f-9044-7c0156062d78	g.chr1:160971131A>G	ENST00000368026.6	-	2	351	c.77T>C	c.(76-78)tTg>tCg	p.L26S	F11R_ENST00000472573.1_5'Flank|F11R_ENST00000289779.3_3'UTR|F11R_ENST00000537746.1_Missense_Mutation_p.L26S	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	26					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			AACACTGCCCAATGCCAGGGA	0.542																																						ENST00000368026.6																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12						c.(76-78)tTg>tCg		F11 receptor							66.0	62.0	64.0					1																	160971131		2203	4300	6503	SO:0001583	missense	50848				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction		g.chr1:160971131A>G	AF111713	CCDS1213.1	1q21.2-q21.3	2013-01-29	2003-02-07	2003-02-14	ENSG00000158769	ENSG00000158769		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14685	protein-coding gene	gene with protein product		605721	"""junctional adhesion molecule 1"""	JAM1		10395639, 7646439	Standard	NM_016946		Approved	PAM-1, JCAM, JAM-1, JAM-A, JAMA, CD321	uc009wtt.3	Q9Y624	OTTHUMG00000028602	ENST00000368026.6:c.77T>C	1.37:g.160971131A>G	ENSP00000357005:p.Leu26Ser					F11R_ENST00000289779.3_3'UTR|F11R_ENST00000537746.1_Missense_Mutation_p.L26S	p.L26S	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00207)		2	351	-	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		26					B7Z941	Missense_Mutation	SNP	ENST00000368026.6	37	c.77T>C	CCDS1213.1	.	.	.	.	.	.	.	.	.	.	A	8.165	0.790442	0.16258	.	.	ENSG00000158769	ENST00000368026;ENST00000335772;ENST00000289779;ENST00000537746;ENST00000436182	T;T;T	0.58060	1.48;0.36;1.36	4.11	0.284	0.15701	.	0.528490	0.14443	N	0.319293	T	0.14657	0.0354	L	0.47716	1.5	0.09310	N	1	B;B;B;B;B	0.26363	0.024;0.004;0.147;0.004;0.004	B;B;B;B;B	0.14023	0.009;0.006;0.01;0.006;0.006	T	0.16988	-1.0384	10	0.16420	T	0.52	.	2.6768	0.05083	0.5613:0.0:0.2328:0.206	.	30;26;26;26;26	B7Z5W1;B7Z941;Q6FIB4;Q9Y624;D3DVF0	.;.;.;JAM1_HUMAN;.	S	26;26;26;26;30	ENSP00000357005:L26S;ENSP00000440812:L26S;ENSP00000394809:L30S	ENSP00000289779:L26S	L	-	2	0	F11R	159237755	0.000000	0.05858	0.014000	0.15608	0.045000	0.14185	-0.112000	0.10791	0.140000	0.18849	0.460000	0.39030	TTG		0.542	F11R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071458.3	NM_016946		3	39	0	0	0	1	0	3	39				
FASTKD5	60493	broad.mit.edu	37	20	3128950	3128950	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A68B-01A-11D-A35D-08	TCGA-RW-A68B-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4afc3d13-ad9f-4900-8507-b37de18d0347	dc696df8-0c64-4c3f-9044-7c0156062d78	g.chr20:3128950C>T	ENST00000380266.3	-	2	1088	c.767G>A	c.(766-768)cGc>cAc	p.R256H	UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	256			R -> C (in dbSNP:rs3746700).		cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						AGGTACTTTGCGGCCTAAGTA	0.393																																						ENST00000380266.3																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						c.(766-768)cGc>cAc		FAST kinase domains 5							43.0	45.0	44.0					20																	3128950		2197	4300	6497	SO:0001583	missense	60493				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr20:3128950C>T	BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.767G>A	20.37:g.3128950C>T	ENSP00000369618:p.Arg256His					UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron	p.R256H	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN			2	1088	-			256		R -> C (in dbSNP:rs3746700).			Q96JN3|Q9H5D1|Q9H8Y3	Missense_Mutation	SNP	ENST00000380266.3	37	c.767G>A	CCDS13048.1	.	.	.	.	.	.	.	.	.	.	C	2.372	-0.344047	0.05208	.	.	ENSG00000215251	ENST00000380266	T	0.15834	2.39	5.77	-5.54	0.02544	.	0.210965	0.36854	N	0.002379	T	0.07234	0.0183	N	0.20986	0.625	0.09310	N	0.999996	B	0.17268	0.021	B	0.10450	0.005	T	0.35895	-0.9770	10	0.13470	T	0.59	.	7.9106	0.29789	0.0985:0.4191:0.0:0.4824	.	256	Q7L8L6	FAKD5_HUMAN	H	256	ENSP00000369618:R256H	ENSP00000369618:R256H	R	-	2	0	FASTKD5	3076950	0.000000	0.05858	0.084000	0.20598	0.068000	0.16541	-0.182000	0.09726	-1.106000	0.03008	-0.459000	0.05422	CGC		0.393	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077701.2	NM_021826		4	78	0	0	0	1	0	4	78				
FBXO27	126433	broad.mit.edu	37	19	39522616	39522616	+	Silent	SNP	G	G	A	rs201987206	byFrequency	TCGA-RW-A68B-01A-11D-A35D-08	TCGA-RW-A68B-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4afc3d13-ad9f-4900-8507-b37de18d0347	dc696df8-0c64-4c3f-9044-7c0156062d78	g.chr19:39522616G>A	ENST00000292853.4	-	2	371	c.252C>T	c.(250-252)caC>caT	p.H84H	FBXO27_ENST00000600828.1_Silent_p.H84H|FBXO27_ENST00000509137.2_Silent_p.H84H|CTB-189B5.3_ENST00000597303.1_RNA	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	84						SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TGCGGGCGAGGTGCAGCAGCG	0.736													G|||	4	0.000798722	0.0008	0.0	5008	,	,		8313	0.0		0.003	False		,,,				2504	0.0					ENST00000292853.4																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17						c.(250-252)caC>caT		F-box protein 27		G		1,4301		0,1,2150	8.0	9.0	9.0		252	-5.4	0.0	19		9	6,8340		0,6,4167	no	coding-synonymous	FBXO27	NM_178820.3		0,7,6317	AA,AG,GG		0.0719,0.0232,0.0553		84/284	39522616	7,12641	2151	4173	6324	SO:0001819	synonymous_variant	126433				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding	g.chr19:39522616G>A	AF436061	CCDS12527.1	19q13.2	2008-02-05	2004-06-15			ENSG00000161243		"""F-boxes /  ""other"""""	18753	protein-coding gene	gene with protein product		609099	"""F-box only protein 27"""			126433	Standard	NM_178820		Approved	Fbg5, Fbx27	uc002okh.3	Q8NI29		ENST00000292853.4:c.252C>T	19.37:g.39522616G>A						FBXO27_ENST00000600828.1_Silent_p.H84H|FBXO27_ENST00000509137.2_Silent_p.H84H	p.H84H	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		2	371	-	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		84					Q96C87	Silent	SNP	ENST00000292853.4	37	c.252C>T	CCDS12527.1																																																																																				0.736	FBXO27-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463281.1			3	4	0	0	0	1	0	3	4				
LILRB5	10990	broad.mit.edu	37	19	54754843	54754843	+	Intron	SNP	A	A	G			TCGA-RW-A68B-01A-11D-A35D-08	TCGA-RW-A68B-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4afc3d13-ad9f-4900-8507-b37de18d0347	dc696df8-0c64-4c3f-9044-7c0156062d78	g.chr19:54754843A>G	ENST00000316219.5	-	13	1734				LILRB5_ENST00000450632.1_Missense_Mutation_p.S598P|CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Intron	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5						cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTGGGGAGGCCTGGGGG	0.607																																						ENST00000450632.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1792-1794)Tcc>Ccc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5							43.0	42.0	42.0					19																	54754843		2191	4270	6461	SO:0001627	intron_variant	10990				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54754843A>G	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1627-47T>C	19.37:g.54754843A>G						LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000316219.5_Intron	p.S598P			O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	13	1869	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		423					Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.1792T>C	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	A	10.02	1.237390	0.22711	.	.	ENSG00000105609	ENST00000450632	T	0.00497	6.98	1.74	-0.656	0.11436	.	.	.	.	.	T	0.00328	0.0010	.	.	.	0.09310	N	1	B	0.24576	0.106	B	0.17433	0.018	T	0.45702	-0.9243	8	0.87932	D	0	.	1.6956	0.02861	0.475:0.0:0.2022:0.3228	.	598	C9JMK7	.	P	598	ENSP00000414225:S598P	ENSP00000414225:S598P	S	-	1	0	LILRB5	59446655	0.000000	0.05858	0.043000	0.18650	0.608000	0.37181	-0.873000	0.04214	-0.256000	0.09473	0.332000	0.21555	TCC		0.607	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			5	19	0	0	0	1	0	5	19				
LRRC43	254050	broad.mit.edu	37	12	122674895	122674895	+	Missense_Mutation	SNP	G	G	A	rs372232440		TCGA-RW-A68B-01A-11D-A35D-08	TCGA-RW-A68B-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4afc3d13-ad9f-4900-8507-b37de18d0347	dc696df8-0c64-4c3f-9044-7c0156062d78	g.chr12:122674895G>A	ENST00000339777.4	+	5	909	c.881G>A	c.(880-882)cGg>cAg	p.R294Q	LRRC43_ENST00000425921.1_Missense_Mutation_p.R109Q	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	294	LRRCT.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CATCTCTTCCGGGGGCTCAGC	0.667																																						ENST00000339777.4																			0				NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19						c.(880-882)cGg>cAg		leucine rich repeat containing 43		G	GLN/ARG,GLN/ARG	0,4176		0,0,2088	56.0	59.0	58.0		881,326	3.0	1.0	12		58	1,8411		0,1,4205	no	missense,missense	LRRC43	NM_001098519.1,NM_152759.4	43,43	0,1,6293	AA,AG,GG		0.0119,0.0,0.0079	possibly-damaging,possibly-damaging	294/657,109/472	122674895	1,12587	2088	4206	6294	SO:0001583	missense	254050							g.chr12:122674895G>A	AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.881G>A	12.37:g.122674895G>A	ENSP00000344233:p.Arg294Gln					LRRC43_ENST00000425921.1_Missense_Mutation_p.R109Q	p.R294Q	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)	5	909	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		294			LRRCT.		Q6ZVT9	Missense_Mutation	SNP	ENST00000339777.4	37	c.881G>A	CCDS45001.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.937277	0.52972	0.0	1.19E-4	ENSG00000158113	ENST00000537729;ENST00000339777;ENST00000289014;ENST00000425921	T;T;T	0.57436	0.89;0.4;0.83	5.22	3.03	0.35002	.	0.288246	0.31685	N	0.007235	T	0.35451	0.0932	L	0.35723	1.085	0.29873	N	0.826688	P	0.43314	0.803	B	0.32724	0.151	T	0.32955	-0.9887	10	0.31617	T	0.26	-39.0798	11.6084	0.51045	0.1772:0.0:0.8228:0.0	.	294	Q8N309	LRC43_HUMAN	Q	109;294;165;109	ENSP00000438751:R109Q;ENSP00000344233:R294Q;ENSP00000416628:R109Q	ENSP00000289014:R165Q	R	+	2	0	LRRC43	121240848	0.996000	0.38824	0.998000	0.56505	0.974000	0.67602	0.724000	0.25954	1.218000	0.43458	0.561000	0.74099	CGG		0.667	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		4	58	0	0	0	1	0	4	58				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-RW-A68B-01A-11D-A35D-08	TCGA-RW-A68B-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4afc3d13-ad9f-4900-8507-b37de18d0347	dc696df8-0c64-4c3f-9044-7c0156062d78	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																																						ENST00000564451.1																			2	Substitution - coding silent(2)	p.N415N(2)	prostate(1)|kidney(1)																																																197331							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_ENST00000567960.1_RNA								0	1866	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		5	107	0	0	0	1	0	5	107				
POM121L9P	29774	broad.mit.edu	37	22	24659734	24659734	+	RNA	SNP	T	T	C			TCGA-RW-A68B-01A-11D-A35D-08	TCGA-RW-A68B-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4afc3d13-ad9f-4900-8507-b37de18d0347	dc696df8-0c64-4c3f-9044-7c0156062d78	g.chr22:24659734T>C	ENST00000414583.2	+	0	3259					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		CTCTCTCCTGTGGGAGGGGGG	0.632																																						ENST00000414583.2																			0																																																			29774							g.chr22:24659734T>C	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659734T>C								NR_003714.1						0	3259	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.632	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		3	12	0	0	0	1	0	3	12				
MAGOH	4116	broad.mit.edu	37	1	53692717	53692717	+	Silent	SNP	C	C	T	rs200084732	byFrequency	TCGA-RW-A68B-01A-11D-A35D-08	TCGA-RW-A68B-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4afc3d13-ad9f-4900-8507-b37de18d0347	dc696df8-0c64-4c3f-9044-7c0156062d78	g.chr1:53692717C>T	ENST00000371470.3	-	5	602	c.441G>A	c.(439-441)taG>taA	p.*147*	RP5-1024G6.7_ENST00000569869.1_RNA|MAGOH_ENST00000371466.4_Silent_p.*110*	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN	mago-nashi homolog, proliferation-associated (Drosophila)	0					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						AATATTCAGTCTAGATTGGTT	0.368																																					Colon(150;521 2416 7674 18129)	ENST00000371470.3																			0				haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						c.(439-441)taG>taA		mago-nashi homolog, proliferation-associated (Drosophila)																																				SO:0001819	synonymous_variant	4116				mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	protein binding|RNA binding	g.chr1:53692717C>T	AF035940	CCDS577.1	1p32.3	2010-04-16	2001-11-28		ENSG00000162385	ENSG00000162385			6815	protein-coding gene	gene with protein product		602603	"""mago-nashi (Drosophila) homolog, proliferation-associated"""			9479507	Standard	NM_002370		Approved	MAGOHA, MAGOH1	uc001cvf.2	P61326	OTTHUMG00000008932	ENST00000371470.3:c.441G>A	1.37:g.53692717C>T						MAGOH_ENST00000371466.4_Silent_p.*110*	p.*147*	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN			5	602	-			0					B1ARP8|B2R5A2|O35169|P50606|Q5SW69	Silent	SNP	ENST00000371470.3	37	c.441G>A	CCDS577.1																																																																																				0.368	MAGOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024730.1	NM_002370		3	26	0	0	0	1	0	3	26				
GABBR1	2550	broad.mit.edu	37	6	29574694	29574694	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A68B-01A-11D-A35D-08	TCGA-RW-A68B-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4afc3d13-ad9f-4900-8507-b37de18d0347	dc696df8-0c64-4c3f-9044-7c0156062d78	g.chr6:29574694G>A	ENST00000377034.4	-	18	2532	c.2197C>T	c.(2197-2199)Cct>Tct	p.P733S	GABBR1_ENST00000377012.4_Missense_Mutation_p.P616S|GABBR1_ENST00000355973.3_Missense_Mutation_p.P616S|GABBR1_ENST00000377016.4_Missense_Mutation_p.P671S|GABBR1_ENST00000376977.3_3'UTR	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	733					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	CGGTGCAGAGGGTCCACGATC	0.587																																						ENST00000377034.4																			0				endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2197-2199)Cct>Tct		gamma-aminobutyric acid (GABA) B receptor, 1	Baclofen(DB00181)|Progabide(DB00837)						81.0	69.0	73.0					6																	29574694		1511	2709	4220	SO:0001583	missense	2550				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29574694G>A	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.2197C>T	6.37:g.29574694G>A	ENSP00000366233:p.Pro733Ser					GABBR1_ENST00000377012.4_Missense_Mutation_p.P616S|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000377016.4_Missense_Mutation_p.P671S|GABBR1_ENST00000355973.3_Missense_Mutation_p.P616S	p.P733S	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN			18	2532	-			733					B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	ENST00000377034.4	37	c.2197C>T	CCDS4663.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.59|18.59	3.657559|3.657559	0.67586|0.67586	.|.	.|.	ENSG00000204681|ENSG00000204681	ENST00000485026|ENST00000355973;ENST00000377016;ENST00000377012;ENST00000377034	.|D;D;D;D	.|0.90261	.|-2.64;-2.64;-2.64;-2.64	4.35|4.35	4.35|4.35	0.52113|0.52113	.|GPCR, family 3, C-terminal (2);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.94142|0.94142	0.8121|0.8121	M|M	0.78456|0.78456	2.415|2.415	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.999;0.999	D|D	0.94948|0.94948	0.8097|0.8097	6|10	.|0.87932	.|D	.|0	-18.3535|-18.3535	14.7425|14.7425	0.69467|0.69467	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|671;733;616	.|Q9UBS5-3;Q9UBS5;Q5SUJ9	.|.;GABR1_HUMAN;.	L|S	113|616;671;616;733	.|ENSP00000348248:P616S;ENSP00000366215:P671S;ENSP00000366211:P616S;ENSP00000366233:P733S	.|ENSP00000348248:P616S	P|P	-|-	2|1	0|0	GABBR1|GABBR1	29682673|29682673	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.344000|0.344000	0.29017|0.29017	9.240000|9.240000	0.95396|0.95396	2.121000|2.121000	0.65114|0.65114	0.563000|0.563000	0.77884|0.77884	CCC|CCT		0.587	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			15	33	0	0	0	1	0	15	33				
TUBA3E	112714	broad.mit.edu	37	2	130951512	130951512	+	Silent	SNP	C	C	T			TCGA-RW-A68B-01A-11D-A35D-08	TCGA-RW-A68B-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4afc3d13-ad9f-4900-8507-b37de18d0347	dc696df8-0c64-4c3f-9044-7c0156062d78	g.chr2:130951512C>T	ENST00000312988.7	-	4	1003	c.903G>A	c.(901-903)caG>caA	p.Q301Q		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	301					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					ACTTGACCATCTGATTGGCTG	0.602																																						ENST00000312988.7																			0				endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28						c.(901-903)caG>caA		tubulin, alpha 3e							154.0	130.0	138.0					2																	130951512		2203	4300	6503	SO:0001819	synonymous_variant	112714				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr2:130951512C>T	BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"""Tubulins"""	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.903G>A	2.37:g.130951512C>T							p.Q301Q	NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN			4	1003	-	Colorectal(110;0.1)		301						Silent	SNP	ENST00000312988.7	37	c.903G>A	CCDS2158.1																																																																																				0.602	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254519.1	NM_207312		5	126	0	0	0	1	0	5	126				
MAGOH	4116	broad.mit.edu	37	1	53692748	53692748	+	Missense_Mutation	SNP	A	A	G			TCGA-RW-A68B-01A-11D-A35D-08	TCGA-RW-A68B-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4afc3d13-ad9f-4900-8507-b37de18d0347	dc696df8-0c64-4c3f-9044-7c0156062d78	g.chr1:53692748A>G	ENST00000371470.3	-	5	571	c.410T>C	c.(409-411)aTt>aCt	p.I137T	RP5-1024G6.7_ENST00000569869.1_RNA|MAGOH_ENST00000371466.4_Missense_Mutation_p.I100T	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN	mago-nashi homolog, proliferation-associated (Drosophila)	137					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.I137T(1)		haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						GTGTAATCCAATAAGACTGAA	0.378																																					Colon(150;521 2416 7674 18129)	ENST00000371470.3																			1	Substitution - Missense(1)	p.I137T(1)	lung(1)	haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						c.(409-411)aTt>aCt		mago-nashi homolog, proliferation-associated (Drosophila)							58.0	56.0	57.0					1																	53692748		2203	4300	6503	SO:0001583	missense	4116				mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	protein binding|RNA binding	g.chr1:53692748A>G	AF035940	CCDS577.1	1p32.3	2010-04-16	2001-11-28		ENSG00000162385	ENSG00000162385			6815	protein-coding gene	gene with protein product		602603	"""mago-nashi (Drosophila) homolog, proliferation-associated"""			9479507	Standard	NM_002370		Approved	MAGOHA, MAGOH1	uc001cvf.2	P61326	OTTHUMG00000008932	ENST00000371470.3:c.410T>C	1.37:g.53692748A>G	ENSP00000360525:p.Ile137Thr					MAGOH_ENST00000371466.4_Missense_Mutation_p.I100T	p.I137T	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN			5	571	-			137					B1ARP8|B2R5A2|O35169|P50606|Q5SW69	Missense_Mutation	SNP	ENST00000371470.3	37	c.410T>C	CCDS577.1	.	.	.	.	.	.	.	.	.	.	A	16.94	3.259752	0.59321	.	.	ENSG00000162385	ENST00000371470;ENST00000371466	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.86410	0.5926	M	0.80028	2.48	0.80722	D	1	B;B	0.32717	0.051;0.381	B;P	0.61003	0.12;0.882	D	0.84407	0.0563	9	0.42905	T	0.14	-19.5899	16.8222	0.85835	1.0:0.0:0.0:0.0	.	100;137	B1ARP8;P61326	.;MGN_HUMAN	T	137;100	.	ENSP00000360521:I100T	I	-	2	0	MAGOH	53465336	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.802000	0.91910	2.371000	0.80710	0.533000	0.62120	ATT		0.378	MAGOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024730.1	NM_002370		3	29	0	0	0	1	0	3	29				
RP11-377D9.3	0	broad.mit.edu	37	12	13174142	13174144	+	lincRNA	DEL	AAC	AAC	-			TCGA-RW-A68B-01A-11D-A35D-08	TCGA-RW-A68B-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4afc3d13-ad9f-4900-8507-b37de18d0347	dc696df8-0c64-4c3f-9044-7c0156062d78	g.chr12:13174142_13174144delAAC	ENST00000543321.1	+	0	1025																											ctgtctcaaaaacaacaacaaca	0.552																																						ENST00000543321.1																			0																																																			0							g.chr12:13174142_13174144delAAC																													12.37:g.13174151_13174153delAAC														0	1025	+									RNA	DEL	ENST00000543321.1	37																																																																																						0.552	RP11-377D9.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000401005.1			4	8						4	8	---	---	---	---
SNX29P2	440352	broad.mit.edu	37	16	29439785	29439786	+	lincRNA	INS	-	-	A			TCGA-RW-A68B-01A-11D-A35D-08	TCGA-RW-A68B-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4afc3d13-ad9f-4900-8507-b37de18d0347	dc696df8-0c64-4c3f-9044-7c0156062d78	g.chr16:29439785_29439786insA	ENST00000398878.3	+	0	5991							Q8IUI4	S29P2_HUMAN	sorting nexin 29 pseudogene 2																		GTGGAACCATTAAAAAAAAACA	0.351																																						ENST00000398878.3																			0																																																			440352							g.chr16:29439785_29439786insA	BX648280		16p11.2	2014-03-21	2011-08-16	2011-08-16	ENSG00000198106	ENSG00000198106			31914	pseudogene	pseudogene			"""RUN domain containing 2C"""	RUNDC2C			Standard	NR_002939		Approved		uc021tfw.1	Q8IUI4			16.37:g.29439794_29439794dupA														0	5991	+									RNA	INS	ENST00000398878.3	37																																																																																						0.351	SNX29P2-202	KNOWN	basic	lincRNA	lincRNA		NR_002939		2	4						2	4	---	---	---	---
FAM83D	81610	broad.mit.edu	37	20	37555202	37555202	+	Frame_Shift_Del	DEL	G	G	-			TCGA-RW-A68B-01A-11D-A35D-08	TCGA-RW-A68B-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4afc3d13-ad9f-4900-8507-b37de18d0347	dc696df8-0c64-4c3f-9044-7c0156062d78	g.chr20:37555202delG	ENST00000217429.4	+	1	248	c.207delG	c.(205-207)ctgfs	p.L69fs		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	39					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				TGGAGGAGCTGGTGGCGGGCG	0.736																																						ENST00000217429.4																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28						c.(205-207)ctfs		family with sequence similarity 83, member D							4.0	5.0	5.0					20																	37555202		1733	3802	5535	SO:0001589	frameshift_variant	81610				cell division|mitosis	cytoplasm|spindle pole		g.chr20:37555202delG	AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 129"""	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.207delG	20.37:g.37555202delG	ENSP00000217429:p.Leu69fs						p.L69fs	NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN			1	248	+		Myeloproliferative disorder(115;0.00878)	39					B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Frame_Shift_Del	DEL	ENST00000217429.4	37	c.207delG	CCDS42872.1																																																																																				0.736	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1			2	4						2	4	---	---	---	---
