#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
PDE5A	8654	broad.mit.edu	37	4	120463753	120463753	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr4:120463753G>C	ENST00000354960.3	-	10	1752	c.1433C>G	c.(1432-1434)aCt>aGt	p.T478S	PDE5A_ENST00000512739.1_5'UTR|PDE5A_ENST00000394439.1_Missense_Mutation_p.T426S|RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000264805.5_Missense_Mutation_p.T436S	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	478	GAF 2.				blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	AACCTTGCCAGTATTCTCCTC	0.388																																						ENST00000354960.3																			0				breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(1432-1434)aCt>aGt		phosphodiesterase 5A, cGMP-specific	Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)						134.0	126.0	129.0					4																	120463753		2203	4300	6503	SO:0001583	missense	8654				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding	g.chr4:120463753G>C	D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"""Phosphodiesterases"""	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.1433C>G	4.37:g.120463753G>C	ENSP00000347046:p.Thr478Ser					RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000264805.5_Missense_Mutation_p.T436S|PDE5A_ENST00000394439.1_Missense_Mutation_p.T426S|PDE5A_ENST00000512739.1_5'UTR	p.T478S	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN			10	1752	-			478			GAF 2.		A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	ENST00000354960.3	37	c.1433C>G	CCDS3713.1	.	.	.	.	.	.	.	.	.	.	G	8.446	0.852067	0.17034	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805	T;T;T	0.62364	0.03;0.08;0.07	5.28	5.28	0.74379	GAF (2);	1.452780	0.03810	N	0.265747	T	0.39410	0.1077	N	0.01410	-0.885	0.26629	N	0.972507	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.10222	-1.0639	10	0.02654	T	1	.	19.2601	0.93964	0.0:0.0:1.0:0.0	.	478;436	O76074;O76074-2	PDE5A_HUMAN;.	S	478;426;436	ENSP00000347046:T478S;ENSP00000377957:T426S;ENSP00000264805:T436S	ENSP00000264805:T436S	T	-	2	0	PDE5A	120683201	0.999000	0.42202	0.027000	0.17364	0.927000	0.56198	7.791000	0.85805	2.641000	0.89580	0.650000	0.86243	ACT		0.388	PDE5A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256529.1	NM_001083		33	56	0	0	0	0.005524	0	33	56				
FRG1B	284802	broad.mit.edu	37	20	29614328	29614328	+	Splice_Site	SNP	G	G	A	rs200267032		TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr20:29614328G>A	ENST00000278882.3	+	2	320		c.e2+1		FRG1B_ENST00000358464.4_Splice_Site|FRG1B_ENST00000439954.2_Splice_Site			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGATACGTTGGTGAGTCAGTT	0.289																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.e2+1																																						SO:0001630	splice_region_variant	0							g.chr20:29614328G>A			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.-61+1G>A	20.37:g.29614328G>A						FRG1B_ENST00000358464.4_Splice_Site|FRG1B_ENST00000439954.2_Splice_Site								2	320	+								C4AME5	Splice_Site	SNP	ENST00000278882.3	37																																																																																						0.289	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	Intron	4	46	0	0	0	0.000602	0	4	46				
SLC9B2	133308	broad.mit.edu	37	4	103988620	103988620	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr4:103988620G>A	ENST00000394785.3	-	2	719	c.88C>T	c.(88-90)Cag>Tag	p.Q30*	SLC9B2_ENST00000362026.3_Nonsense_Mutation_p.Q30*|SLC9B2_ENST00000503230.1_Nonsense_Mutation_p.Q30*|SLC9B2_ENST00000505838.1_5'UTR|SLC9B2_ENST00000339611.4_Nonsense_Mutation_p.Q30*|SLC9B2_ENST00000503103.1_Nonsense_Mutation_p.Q30*	NM_178833.4	NP_849155.2	Q86UD5	SL9B2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	30					ion transmembrane transport (GO:0034220)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	solute:proton antiporter activity (GO:0015299)										AGATTTACCTGTGCTTCTTGA	0.368																																						ENST00000394785.3																			0											c.(88-90)Cag>Tag		solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2							260.0	221.0	234.0					4																	103988620		2203	4300	6503	SO:0001587	stop_gained	133308				sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity	g.chr4:103988620G>A	AK172823	CCDS3662.1, CCDS75173.1, CCDS75174.1	4q24	2013-05-22	2012-03-22	2011-08-03	ENSG00000164038	ENSG00000164038		"""Solute carriers"""	25143	protein-coding gene	gene with protein product		611789	"""Na+/H+ exchanger domain containing 2"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 2"""	NHEDC2		18600791	Standard	XM_005262758		Approved	FLJ23984, NHA2	uc003hwy.3	Q86UD5	OTTHUMG00000131125	ENST00000394785.3:c.88C>T	4.37:g.103988620G>A	ENSP00000378265:p.Gln30*					SLC9B2_ENST00000362026.3_Nonsense_Mutation_p.Q30*|SLC9B2_ENST00000503103.1_Nonsense_Mutation_p.Q30*|SLC9B2_ENST00000339611.4_Nonsense_Mutation_p.Q30*|SLC9B2_ENST00000503230.1_Nonsense_Mutation_p.Q30*|SLC9B2_ENST00000505838.1_5'UTR	p.Q30*	NM_178833.4	NP_849155.2	Q86UD5	NHDC2_HUMAN			2	719	-			30					B5ME52|Q6ZMD8|Q96D95	Nonsense_Mutation	SNP	ENST00000394785.3	37	c.88C>T	CCDS3662.1	.	.	.	.	.	.	.	.	.	.	G	38	6.709784	0.97780	.	.	ENSG00000164038	ENST00000362026;ENST00000339611;ENST00000394785;ENST00000503103;ENST00000503230;ENST00000503818	.	.	.	3.84	3.84	0.44239	.	0.282038	0.25253	N	0.032019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-2.2493	11.585	0.50912	0.0:0.0:1.0:0.0	.	.	.	.	X	30	.	ENSP00000345241:Q30X	Q	-	1	0	SLC9B2	104208069	0.994000	0.37717	0.869000	0.34112	0.773000	0.43773	3.549000	0.53681	2.438000	0.82558	0.655000	0.94253	CAG		0.368	SLC9B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253805.1	NM_178833		5	85	0	0	0	0.001168	0	5	85				
BCAS3	54828	broad.mit.edu	37	17	59024649	59024649	+	Missense_Mutation	SNP	G	G	C	rs200515922	byFrequency	TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr17:59024649G>C	ENST00000390652.5	+	14	1188	c.1157G>C	c.(1156-1158)tGg>tCg	p.W386S	BCAS3_ENST00000588462.1_Missense_Mutation_p.W386S|BCAS3_ENST00000407086.3_Missense_Mutation_p.W386S|BCAS3_ENST00000585744.1_Missense_Mutation_p.W157S|BCAS3_ENST00000589222.1_Missense_Mutation_p.W386S|BCAS3_ENST00000588874.1_Missense_Mutation_p.W157S|BCAS3_ENST00000408905.3_Missense_Mutation_p.W386S	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3											NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			ACTCATCCTTGGTCCTCATCA	0.413																																						ENST00000589222.1																			0				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1156-1158)tGg>tCg		breast carcinoma amplified sequence 3							205.0	188.0	194.0					17																	59024649		1917	4145	6062	SO:0001583	missense	54828					nucleus		g.chr17:59024649G>C	AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"""WD repeat domain containing"""	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.1157G>C	17.37:g.59024649G>C	ENSP00000375067:p.Trp386Ser					BCAS3_ENST00000407086.3_Missense_Mutation_p.W386S|BCAS3_ENST00000588874.1_Missense_Mutation_p.W157S|BCAS3_ENST00000408905.3_Missense_Mutation_p.W386S|BCAS3_ENST00000585744.1_Missense_Mutation_p.W157S|BCAS3_ENST00000588462.1_Missense_Mutation_p.W386S|BCAS3_ENST00000390652.5_Missense_Mutation_p.W386S	p.W386S			Q9H6U6	BCAS3_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)		14	1225	+			386						Missense_Mutation	SNP	ENST00000390652.5	37	c.1157G>C	CCDS45749.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693408	0.48202	.	.	ENSG00000141376	ENST00000390652;ENST00000407086;ENST00000405070;ENST00000408905;ENST00000360207;ENST00000405217	T;T;T	0.05717	3.4;3.4;3.4	5.78	5.78	0.91487	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.14787	0.0357	N	0.21545	0.675	0.80722	D	1	B;B;D;D;D	0.64830	0.267;0.001;0.994;0.99;0.994	B;B;D;D;D	0.75484	0.116;0.003;0.986;0.969;0.986	T	0.30208	-0.9986	10	0.18710	T	0.47	.	19.9997	0.97405	0.0:0.0:1.0:0.0	.	177;191;386;386;386	B4E3M9;Q70WD9;Q9H6U6-7;Q9H6U6;Q9H6U6-2	.;.;.;BCAS3_HUMAN;.	S	386;386;386;386;178;191	ENSP00000375067:W386S;ENSP00000385323:W386S;ENSP00000386173:W386S	ENSP00000353336:W178S	W	+	2	0	BCAS3	56379431	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.519000	0.81809	2.717000	0.92951	0.585000	0.79938	TGG		0.413	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1	NM_017679		7	209	0	0	0	0.003080	0	7	209				
BCRP7	100133163	broad.mit.edu	37	22	18846025	18846025	+	3'UTR	SNP	G	G	C	rs5993363		TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr22:18846025G>C	ENST00000412938.1	+	0	3383																											GACGTTGAAGGCTGCCTTCAG	0.647																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18846025G>C																												ENST00000412938.1:c.*3380G>C	22.37:g.18846025G>C														0	3383	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.647	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			4	79	0	0	0	0.000248	0	4	79				
KCNG2	26251	broad.mit.edu	37	18	77659600	77659600	+	Silent	SNP	G	G	A			TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr18:77659600G>A	ENST00000316249.3	+	2	1185	c.1185G>A	c.(1183-1185)ctG>ctA	p.L395L	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	395					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		GCGGCATCCTGCTCATGGCCT	0.692																																						ENST00000316249.3																			0				breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18						c.(1183-1185)ctG>ctA		potassium voltage-gated channel, subfamily G, member 2							63.0	58.0	59.0					18																	77659600		2203	4300	6503	SO:0001819	synonymous_variant	26251				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr18:77659600G>A	AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.1185G>A	18.37:g.77659600G>A						KCNG2_ENST00000590307.1_3'UTR	p.L395L	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)	2	1185	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	395						Silent	SNP	ENST00000316249.3	37	c.1185G>A	CCDS12019.1																																																																																				0.692	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283		7	73	0	0	0	0.001984	0	7	73				
DLGAP2	9228	broad.mit.edu	37	8	1497638	1497638	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr8:1497638T>C	ENST00000421627.2	+	2	913	c.779T>C	c.(778-780)cTc>cCc	p.L260P		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	339					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GACCTGTCCCTCAAGACCTCC	0.667																																						ENST00000421627.2																			0				breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.(778-780)cTc>cCc		discs, large (Drosophila) homolog-associated protein 2							50.0	57.0	55.0					8																	1497638		2115	4247	6362	SO:0001583	missense	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1497638T>C	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.779T>C	8.37:g.1497638T>C	ENSP00000400258:p.Leu260Pro						p.L260P	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	2	913	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	339					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	c.779T>C	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.85|18.85	3.711050|3.711050	0.68730|0.68730	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000356067;ENST00000421627|ENST00000520901	T|.	0.19250|.	2.16|.	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80481|0.80481	0.4631|0.4631	M|M	0.88450|0.88450	2.955|2.955	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.999|.	D|D	0.84080|0.84080	0.0384|0.0384	10|5	0.87932|.	D|.	0|.	-12.3503|-12.3503	15.2356|15.2356	0.73427|0.73427	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	339;339|.	Q9P1A6-2;Q9P1A6|.	.;DLGP2_HUMAN|.	P|P	305;260|277	ENSP00000400258:L260P|.	ENSP00000348366:L305P|.	L|S	+|+	2|1	0|0	DLGAP2|DLGAP2	1485045|1485045	1.000000|1.000000	0.71417|0.71417	0.142000|0.142000	0.22268|0.22268	0.603000|0.603000	0.37013|0.37013	7.262000|7.262000	0.78410|0.78410	1.992000|1.992000	0.58205|0.58205	0.533000|0.533000	0.62120|0.62120	CTC|TCA		0.667	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		3	127	0	0	0	0.004672	0	3	127				
PDPN	10630	broad.mit.edu	37	1	13936955	13936955	+	Missense_Mutation	SNP	C	C	T	rs189019995		TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr1:13936955C>T	ENST00000509009.1	+	3	304	c.260C>T	c.(259-261)gCg>gTg	p.A87V	PDPN_ENST00000294489.6_Missense_Mutation_p.A168V|PDPN_ENST00000513143.1_Missense_Mutation_p.A50V|PDPN_ENST00000487038.1_Missense_Mutation_p.A50V|PDPN_ENST00000475043.1_Missense_Mutation_p.A50V|PDPN_ENST00000376057.4_Missense_Mutation_p.A168V|PDPN_ENST00000376061.4_Missense_Mutation_p.A50V					podoplanin									p.A168V(1)		endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		ACAGTCCACGCGCAAGAACAA	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		18779	0.001		0.0	False		,,,				2504	0.0					ENST00000294489.6																			1	Substitution - Missense(1)	p.A168V(1)	kidney(1)	endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16						c.(502-504)gCg>gTg		podoplanin		C	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	124.0	113.0	116.0		503,503,149,149	-1.6	0.0	1		116	0,8600		0,0,4300	yes	missense,missense,missense,missense	PDPN	NM_198389.2,NM_006474.4,NM_001006625.1,NM_001006624.1	64,64,64,64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign	168/237,168/239,50/119,50/121	13936955	1,13005	2203	4300	6503	SO:0001583	missense	10630				cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane		g.chr1:13936955C>T	AB127958, AY194238	CCDS30602.1, CCDS41266.1, CCDS44060.1, CCDS53270.1	1p36.21	2008-02-05			ENSG00000162493	ENSG00000162493			29602	protein-coding gene	gene with protein product	"""lung type I cell membrane associated glycoprotein"""	608863				10393083, 9651190	Standard	NM_006474		Approved	T1A-2, Gp38, aggrus, GP40, PA2.26	uc001avd.3	Q86YL7	OTTHUMG00000007912	ENST00000509009.1:c.260C>T	1.37:g.13936955C>T	ENSP00000422977:p.Ala87Val					PDPN_ENST00000376061.4_Missense_Mutation_p.A50V|PDPN_ENST00000376057.4_Missense_Mutation_p.A168V|PDPN_ENST00000509009.1_Missense_Mutation_p.A87V|PDPN_ENST00000513143.1_Missense_Mutation_p.A50V|PDPN_ENST00000475043.1_Missense_Mutation_p.A50V|PDPN_ENST00000487038.1_Missense_Mutation_p.A50V	p.A168V			Q86YL7	PDPN_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)	3	844	+	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	92						Missense_Mutation	SNP	ENST00000509009.1	37	c.503C>T		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.51	1.959758	0.34565	2.27E-4	0.0	ENSG00000162493	ENST00000294489;ENST00000376057;ENST00000510906;ENST00000509009;ENST00000376061;ENST00000513143;ENST00000487038;ENST00000475043	T;T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46	4.28	-1.63	0.08345	.	0.819946	0.10720	N	0.641896	T	0.18718	0.0449	L	0.40543	1.245	0.09310	N	1	B;B;B;B	0.24675	0.109;0.109;0.089;0.089	B;B;B;B	0.19148	0.01;0.01;0.024;0.024	T	0.22730	-1.0208	10	0.42905	T	0.14	0.5252	2.2239	0.03979	0.3274:0.2558:0.318:0.0988	.	92;50;168;168	Q86YL7;E9PB68;Q86YL7-3;Q86YL7-4	PDPN_HUMAN;.;.;.	V	168;168;159;87;50;50;50;50	ENSP00000294489:A168V;ENSP00000365225:A168V;ENSP00000426302:A159V;ENSP00000422977:A87V;ENSP00000365229:A50V;ENSP00000425304:A50V;ENSP00000427537:A50V;ENSP00000426063:A50V	ENSP00000294489:A168V	A	+	2	0	PDPN	13809542	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.378000	0.01068	-0.250000	0.09555	0.650000	0.86243	GCG		0.507	PDPN-009	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367736.1	NM_006474		5	121	0	0	0	0.001984	0	5	121				
CFAP44	55779	broad.mit.edu	37	3	113115480	113115480	+	Missense_Mutation	SNP	G	G	A	rs145391746		TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr3:113115480G>A	ENST00000295868.2	-	14	1826	c.1664C>T	c.(1663-1665)gCg>gTg	p.A555V	WDR52_ENST00000393845.2_Missense_Mutation_p.A555V|WDR52_ENST00000475568.1_5'UTR	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						CTTCCGTCCCGCAAAAATCGT	0.398													G|||	1	0.000199681	0.0	0.0	5008	,	,		17612	0.0		0.001	False		,,,				2504	0.0					ENST00000393845.2																			0				breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						c.(1663-1665)gCg>gTg		WD repeat domain 52		G	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	94.0	97.0	96.0		1664,1664	3.5	0.5	3	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	WDR52	NM_001164496.1,NM_018338.3	64,64	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign,benign	555/1855,555/983	113115480	2,13004	2203	4300	6503	SO:0001583	missense	55779							g.chr3:113115480G>A																												ENST00000295868.2:c.1664C>T	3.37:g.113115480G>A	ENSP00000295868:p.Ala555Val					WDR52_ENST00000475568.1_5'UTR|WDR52_ENST00000295868.2_Missense_Mutation_p.A555V	p.A555V	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN			14	1730	-			555						Missense_Mutation	SNP	ENST00000295868.2	37	c.1664C>T	CCDS2972.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	7.112	0.576189	0.13623	2.27E-4	1.16E-4	ENSG00000206530	ENST00000393845;ENST00000295868	T;T	0.65732	-0.17;0.79	5.39	3.55	0.40652	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.	.	.	.	T	0.53802	0.1819	L	0.44542	1.39	0.30702	N	0.750186	B	0.14012	0.009	B	0.08055	0.003	T	0.49194	-0.8965	9	0.28530	T	0.3	.	13.7098	0.62661	0.1466:0.0:0.8534:0.0	.	555	Q96MT7	WDR52_HUMAN	V	555	ENSP00000377428:A555V;ENSP00000295868:A555V	ENSP00000295868:A555V	A	-	2	0	WDR52	114598170	1.000000	0.71417	0.459000	0.27081	0.019000	0.09904	4.380000	0.59581	0.331000	0.23511	-0.797000	0.03246	GCG		0.398	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3			4	78	0	0	0	0.000248	0	4	78				
LINC00969	440993	broad.mit.edu	37	3	195410687	195410687	+	lincRNA	SNP	T	T	A	rs6583274	byFrequency	TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr3:195410687T>A	ENST00000445430.1	+	0	1884									long intergenic non-protein coding RNA 969																		CCCTTTGAGGTGCACTGGAGG	0.567													.|||	701	0.139976	0.0552	0.1571	5008	,	,		36746	0.1855		0.16	False		,,,				2504	0.1748					ENST00000445430.1																			0																																																			0							g.chr3:195410687T>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195410687T>A														0	1884	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.567	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			3	27	0	0	0	0.000602	0	3	27				
LRRN4	164312	broad.mit.edu	37	20	6022440	6022440	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr20:6022440C>T	ENST00000378858.4	-	5	1675	c.1451G>A	c.(1450-1452)gGc>gAc	p.G484D		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	484					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						AGGGAAGGGGCCCAGGAGCTT	0.657																																						ENST00000378858.4																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						c.(1450-1452)gGc>gAc		leucine rich repeat neuronal 4							105.0	112.0	109.0					20																	6022440		2203	4300	6503	SO:0001583	missense	164312					integral to membrane		g.chr20:6022440C>T	AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"""Fibronectin type III domain containing"""	16208	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 75"""	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.1451G>A	20.37:g.6022440C>T	ENSP00000368135:p.Gly484Asp						p.G484D	NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN			5	1675	-			484					A8K258|Q5JWV6|Q9H419	Missense_Mutation	SNP	ENST00000378858.4	37	c.1451G>A	CCDS13097.1	.	.	.	.	.	.	.	.	.	.	C	5.027	0.190693	0.09547	.	.	ENSG00000125872	ENST00000378858	T	0.57273	0.41	4.87	-1.82	0.07857	.	1.523810	0.03764	N	0.258592	T	0.31765	0.0807	L	0.27053	0.805	0.09310	N	1	B	0.15473	0.013	B	0.14023	0.01	T	0.06197	-1.0840	10	0.09084	T	0.74	-0.0398	1.3776	0.02224	0.337:0.3209:0.0927:0.2494	.	484	Q8WUT4	LRRN4_HUMAN	D	484	ENSP00000368135:G484D	ENSP00000368135:G484D	G	-	2	0	LRRN4	5970440	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.871000	0.04223	-0.577000	0.05967	-1.134000	0.01955	GGC		0.657	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	NM_152611		45	115	0	0	0	0.002222	0	45	115				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			5	51	0	0	0	0.000602	0	5	51				
TG	7038	broad.mit.edu	37	8	133883736	133883736	+	Missense_Mutation	SNP	T	T	G			TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr8:133883736T>G	ENST00000220616.4	+	4	458	c.418T>G	c.(418-420)Tgt>Ggt	p.C140G	TG_ENST00000377869.1_Missense_Mutation_p.C140G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	140	Thyroglobulin type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCAGTGCTGGTGTGTGGACGC	0.597																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(418-420)Tgt>Ggt		thyroglobulin							146.0	107.0	120.0					8																	133883736		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133883736T>G	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.418T>G	8.37:g.133883736T>G	ENSP00000220616:p.Cys140Gly					TG_ENST00000377869.1_Missense_Mutation_p.C140G	p.C140G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	4	458	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	140			Thyroglobulin type-1 2.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.418T>G	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	T	17.85	3.489231	0.64074	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	D;D	0.87412	-2.25;-2.25	5.58	5.58	0.84498	Thyroglobulin type-1 (6);	0.000000	0.64402	D	0.000001	D	0.95778	0.8626	H	0.97682	4.055	0.53688	D	0.999977	D	0.89917	1.0	D	0.97110	1.0	D	0.97027	0.9747	10	0.87932	D	0	.	13.4922	0.61402	0.0:0.0:0.0:1.0	.	140	P01266	THYG_HUMAN	G	140	ENSP00000367100:C140G;ENSP00000220616:C140G	ENSP00000220616:C140G	C	+	1	0	TG	133952918	1.000000	0.71417	1.000000	0.80357	0.346000	0.29079	7.304000	0.78882	2.125000	0.65367	0.377000	0.23210	TGT		0.597	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		27	50	0	0	0	0.005443	0	27	50				
TNKS1BP1	85456	broad.mit.edu	37	11	57075943	57075943	+	Silent	SNP	G	G	A			TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr11:57075943G>A	ENST00000532437.1	-	5	4553	c.4242C>T	c.(4240-4242)taC>taT	p.Y1414Y	TNKS1BP1_ENST00000358252.3_Silent_p.Y1414Y|TNKS1BP1_ENST00000530920.1_5'Flank			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1414	Acidic.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				AAGACGAGGAGTAATCTTCAC	0.602																																						ENST00000532437.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(4240-4242)taC>taT		tankyrase 1 binding protein 1, 182kDa							194.0	202.0	199.0					11																	57075943		2201	4296	6497	SO:0001819	synonymous_variant	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57075943G>A	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.4242C>T	11.37:g.57075943G>A						TNKS1BP1_ENST00000358252.3_Silent_p.Y1414Y	p.Y1414Y			Q9C0C2	TB182_HUMAN			5	4553	-		all_epithelial(135;0.21)	1414			Acidic.		A7E2F8|Q6PJ35|Q6ZV74	Silent	SNP	ENST00000532437.1	37	c.4242C>T	CCDS7951.1																																																																																				0.602	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		130	287	0	0	0	0.003610	0	130	287				
HLA-DQB2	3120	broad.mit.edu	37	6	32725653	32725653	+	Silent	SNP	C	C	T	rs144961216		TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr6:32725653C>T	ENST00000437316.2	-	4	717	c.654G>A	c.(652-654)caG>caA	p.Q218Q	HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000435145.2_Silent_p.Q218Q			P05538	DQB2_HUMAN	major histocompatibility complex, class II, DQ beta 2	222	Beta-2.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|B cell affinity maturation (GO:0002344)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of alpha-beta T cell activation (GO:0046635)|positive regulation of antigen processing and presentation (GO:0002579)|positive regulation of T-helper 1 type immune response (GO:0002827)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome (GO:0005769)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)|toxic substance binding (GO:0015643)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CAGATTCAGACTGAGCCCCTA	0.557																																						ENST00000435145.2																			0				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						c.(652-654)caG>caA		major histocompatibility complex, class II, DQ beta 2																																				SO:0001819	synonymous_variant	3120				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex		g.chr6:32725653C>T	M83890	CCDS56419.1	6p21.3	2013-01-11			ENSG00000232629	ENSG00000232629		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4945	protein-coding gene	gene with protein product		615161		HLA-DXB		2564844	Standard	NM_001198858		Approved		uc003oby.4	P05538	OTTHUMG00000031125	ENST00000437316.2:c.654G>A	6.37:g.32725653C>T						HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Silent_p.Q218Q	p.Q218Q			Q5SR06	Q5SR06_HUMAN			4	715	-			216					A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06	Silent	SNP	ENST00000437316.2	37	c.654G>A																																																																																					0.557	HLA-DQB2-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076216.2			4	22	0	0	0	0.000602	0	4	22				
MYH6	4624	broad.mit.edu	37	14	23866411	23866411	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr14:23866411C>T	ENST00000356287.3	-	16	2047	c.2018G>A	c.(2017-2019)cGt>cAt	p.R673H	MYH6_ENST00000405093.3_Missense_Mutation_p.R673H			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	673	Actin-binding.|Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)	p.R673H(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GATGATGCAACGCACAAAGTG	0.542																																						ENST00000405093.3																			1	Substitution - Missense(1)	p.R673H(1)	prostate(1)	breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(2017-2019)cGt>cAt		myosin, heavy chain 6, cardiac muscle, alpha							167.0	159.0	161.0					14																	23866411		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23866411C>T	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.2018G>A	14.37:g.23866411C>T	ENSP00000348634:p.Arg673His					MYH6_ENST00000356287.3_Missense_Mutation_p.R673H	p.R673H	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	17	2088	-	all_cancers(95;2.54e-05)		673			Actin-binding.|Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.2018G>A	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	27.8	4.865066	0.91511	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.90620	-2.7;-2.7	4.26	4.26	0.50523	Myosin head, motor domain (2);	.	.	.	.	D	0.97813	0.9282	H	0.99825	4.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99705	1.1005	9	0.87932	D	0	.	17.2018	0.86908	0.0:1.0:0.0:0.0	.	673	P13533	MYH6_HUMAN	H	673	ENSP00000386041:R673H;ENSP00000348634:R673H	ENSP00000348634:R673H	R	-	2	0	MYH6	22936251	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.219000	0.78000	2.382000	0.81193	0.650000	0.86243	CGT		0.542	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			64	138	0	0	0	0.003610	0	64	138				
NBPF10	100132406	broad.mit.edu	37	1	145327548	145327548	+	Missense_Mutation	SNP	A	A	G	rs202019968		TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr1:145327548A>G	ENST00000342960.5	+	32	4140	c.4105A>G	c.(4105-4107)Aat>Gat	p.N1369D	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	712						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GGACTCACTGAATAGATGTTA	0.473																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(4105-4107)Aat>Gat		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145327548A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.4105A>G	1.37:g.145327548A>G	ENSP00000345684:p.Asn1369Asp					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.N1369D	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	32	4140	+	all_hematologic(923;0.032)		1369					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.4105A>G	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.005	-2.181510	0.00308	.	.	ENSG00000163386	ENST00000342960	T	0.03301	3.98	1.5	-0.755	0.11061	.	.	.	.	.	T	0.00210	0.0006	N	0.00179	-1.91	0.09310	N	1	.	.	.	.	.	.	T	0.40608	-0.9554	7	0.02654	T	1	.	5.1791	0.15150	0.6356:0.0:0.3644:0.0	.	.	.	.	D	1369	ENSP00000345684:N1369D	ENSP00000345684:N1369D	N	+	1	0	NBPF10	144038905	0.003000	0.15002	0.004000	0.12327	0.050000	0.14768	-0.536000	0.06135	-0.488000	0.06726	-1.353000	0.01230	AAT		0.473	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		5	56	0	0	0	0.000602	0	5	56				
NEK8	284086	broad.mit.edu	37	17	27068491	27068491	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr17:27068491A>G	ENST00000268766.6	+	14	1986	c.1952A>G	c.(1951-1953)gAt>gGt	p.D651G	TRAF4_ENST00000262396.6_5'Flank|AC010761.6_ENST00000584779.1_RNA|AC010761.6_ENST00000582536.1_RNA|TRAF4_ENST00000444415.3_5'Flank|TRAF4_ENST00000262395.5_5'Flank	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	651					organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					AGGGATGAGGATGCCGGACTC	0.592																																					NSCLC(6;19 293 14866 25253 49845)	ENST00000268766.6																			0				breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1951-1953)gAt>gGt		NIMA-related kinase 8							141.0	109.0	120.0					17																	27068491		2203	4300	6503	SO:0001583	missense	284086					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:27068491A>G	AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"""NIMA (never in mitosis gene a)- related kinase 8"""			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.1952A>G	17.37:g.27068491A>G	ENSP00000268766:p.Asp651Gly					AC010761.6_ENST00000584779.1_RNA	p.D651G	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN			14	1986	+	Lung NSC(42;0.0158)		651					A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Missense_Mutation	SNP	ENST00000268766.6	37	c.1952A>G	CCDS32597.1	.	.	.	.	.	.	.	.	.	.	A	10.90	1.482019	0.26598	.	.	ENSG00000160602	ENST00000268766	D	0.81579	-1.51	5.61	5.61	0.85477	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.111165	0.64402	D	0.000008	T	0.70996	0.3288	L	0.38175	1.15	0.58432	D	0.999997	B	0.13145	0.007	B	0.12156	0.007	T	0.66563	-0.5892	10	0.39692	T	0.17	.	9.4751	0.38867	0.9213:0.0:0.0787:0.0	.	651	Q86SG6	NEK8_HUMAN	G	651	ENSP00000268766:D651G	ENSP00000268766:D651G	D	+	2	0	NEK8	24092618	1.000000	0.71417	0.997000	0.53966	0.895000	0.52256	7.554000	0.82212	2.127000	0.65507	0.533000	0.62120	GAT		0.592	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2			26	52	0	0	0	0.003954	0	26	52				
HERC2P2	400322	broad.mit.edu	37	15	23331163	23331163	+	RNA	DEL	A	A	-			TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr15:23331163delA	ENST00000560464.1	-	0	908									hect domain and RLD 2 pseudogene 2																		AATAAATACTAAAAAAAAAAA	0.368																																						ENST00000560464.1																			0																																																			0							g.chr15:23331163delA	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23331163delA														0	908	-									RNA	DEL	ENST00000560464.1	37																																																																																						0.368	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			4	9						4	9	---	---	---	---
ITGAL	3683	broad.mit.edu	37	16	30495432	30495432	+	Splice_Site	DEL	A	A	-			TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr16:30495432delA	ENST00000356798.6	+	9	1035		c.e9-1		RNU7-61P_ENST00000515897.1_RNA|RP11-297C4.3_ENST00000562525.1_RNA|ITGAL_ENST00000454514.2_Splice_Site|ITGAL_ENST00000358164.5_Splice_Site|ITGAL_ENST00000433423.2_Intron|RP11-297C4.2_ENST00000569459.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)						activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	ACTCCCTCACAGATTGGAAAG	0.488																																					NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.e9-1		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)						114.0	111.0	112.0					16																	30495432		2197	4300	6497	SO:0001630	splice_region_variant	0				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30495432delA		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.856-1A>-	16.37:g.30495432delA						ITGAL_ENST00000454514.2_Splice_Site|ITGAL_ENST00000358164.5_Splice_Site|RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000433423.2_Intron		NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN			9	1035	+								O43746|Q45H73|Q96HB1|Q9UBC8	Splice_Site	DEL	ENST00000356798.6	37		CCDS32433.1																																																																																				0.488	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2		Intron	82	147						82	147	---	---	---	---
IGHV3OR16-9	28307	broad.mit.edu	37	16	32077916	32077917	+	RNA	INS	-	-	TTT	rs139112308		TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr16:32077916_32077917insTTT	ENST00000354689.6	+	0	294				RP11-1166P10.6_ENST00000566806.1_RNA					immunoglobulin heavy variable 3/OR16-9 (non-functional)																		ATGGAAAACGGTTATTTTTTTG	0.421																																						ENST00000566806.1																			0																																																			0							g.chr16:32077916_32077917insTTT	Z29606		16p11.2	2013-12-06	2008-09-11		ENSG00000270472	ENSG00000270472		"""Immunoglobulins / IGH orphons"""	5644	other	immunoglobulin gene			"""immunoglobulin heavy variable 3/OR16-9"""				Standard			Approved	IGHV3/OR16-9			OTTHUMG00000184753		16.37:g.32077916_32077917insTTT														0	499	-									RNA	INS	ENST00000354689.6	37																																																																																						0.421	IGHV3OR16-9-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000432530.2			3	5						3	5	---	---	---	---
TBC1D3P1-DHX40P1	653645	broad.mit.edu	37	17	58090681	58090681	+	lincRNA	DEL	T	T	-	rs201638373		TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr17:58090681delT	ENST00000407042.3	-	0	609									TBC1D3P1-DHX40P1 readthrough transcribed pseudogene																		CTCTGAATGATTTTTTTTTTT	0.458																																						ENST00000407042.3																			0																																																			0							g.chr17:58090681delT			17q23.1	2014-09-10	2012-12-07		ENSG00000267104	ENSG00000267104			42362	other	readthrough			"""TBC1D3P1-DHX40P1 readthrough (non-protein coding)"""				Standard	NR_002924		Approved		uc002iyf.2		OTTHUMG00000179977		17.37:g.58090681delT														0	609	-									RNA	DEL	ENST00000407042.3	37																																																																																						0.458	TBC1D3P1-DHX40P1-201	KNOWN	basic	lincRNA	lincRNA		NR_002924		2	4						2	4	---	---	---	---
