#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
CRAMP1L	57585	broad.mit.edu	37	16	1715128	1715128	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr16:1715128C>G	ENST00000397412.3	+	14	2840	c.2741C>G	c.(2740-2742)tCt>tGt	p.S914C	CRAMP1L_ENST00000436138.3_Missense_Mutation_p.S911C|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.S914C|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.S292C			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	914						nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CTGTCTAACTCTTCCGTAACT	0.507																																						ENST00000397412.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						c.(2740-2742)tCt>tGt		Crm, cramped-like (Drosophila)							126.0	119.0	121.0					16																	1715128		1959	4149	6108	SO:0001583	missense	57585					nucleus	DNA binding	g.chr16:1715128C>G	AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"""Crm (Cramped Drosophila)-like"""				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.2741C>G	16.37:g.1715128C>G	ENSP00000380559:p.Ser914Cys					LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.S292C|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.S914C|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.S911C	p.S914C			Q96RY5	CRML_HUMAN			14	2840	+			914					A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Missense_Mutation	SNP	ENST00000397412.3	37	c.2741C>G	CCDS10440.2	.	.	.	.	.	.	.	.	.	.	C	18.80	3.701067	0.68501	.	.	ENSG00000007545	ENST00000397412;ENST00000293925;ENST00000436138;ENST00000262317	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.74137	0.3677	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74630	-0.3601	9	0.72032	D	0.01	-30.2415	20.428	0.99075	0.0:1.0:0.0:0.0	.	914	Q96RY5	CRML_HUMAN	C	914;914;911;292	.	ENSP00000262317:S292C	S	+	2	0	CRAMP1L	1655129	1.000000	0.71417	0.416000	0.26546	0.197000	0.23852	7.225000	0.78051	2.837000	0.97791	0.655000	0.94253	TCT		0.507	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4			13	25	0	0	0	1	0	13	25				
MCM6	4175	broad.mit.edu	37	2	136622582	136622582	+	Splice_Site	SNP	C	C	G			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr2:136622582C>G	ENST00000264156.2	-	7	1139		c.e7+1		MCM6_ENST00000492091.1_Splice_Site	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6						DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		GGAATTCTTACCATGTATAGT	0.343																																					Ovarian(196;141 2104 8848 24991 25939)	ENST00000264156.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29						c.e7+1		minichromosome maintenance complex component 6	Atorvastatin(DB01076)						122.0	118.0	119.0					2																	136622582		2203	4300	6503	SO:0001630	splice_region_variant	4175				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	g.chr2:136622582C>G		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"""MIS5 homolog (S.pombe)"""	601806	"""minichromosome maintenance deficient (mis5, S. pombe) 6"", ""MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)"", ""minichromosome maintenance deficient 6 homolog (S. cerevisiae)"""				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.1078+1G>C	2.37:g.136622582C>G						MCM6_ENST00000492091.1_Splice_Site		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	7	1139	-								B2R6H2|Q13504|Q99859	Splice_Site	SNP	ENST00000264156.2	37		CCDS2179.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.056653	0.76074	.	.	ENSG00000076003	ENST00000264156	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9145	0.97053	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MCM6	136339052	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	7.435000	0.80391	2.707000	0.92482	0.557000	0.71058	.		0.343	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915	Intron	40	76	0	0	0	1	0	40	76				
OR9G4	283189	broad.mit.edu	37	11	56510346	56510346	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr11:56510346C>A	ENST00000302957.3	-	1	941	c.942G>T	c.(940-942)gaG>gaT	p.E314D		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	314						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TCCTGAAGGCCTCTTTGATAT	0.408																																						ENST00000302957.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(940-942)gaG>gaT		olfactory receptor, family 9, subfamily G, member 4							186.0	164.0	171.0					11																	56510346		2201	4296	6497	SO:0001583	missense	283189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56510346C>A	BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"""GPCR / Class A : Olfactory receptors"""	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.942G>T	11.37:g.56510346C>A	ENSP00000307515:p.Glu314Asp						p.E314D	NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN			1	941	-			314					Q6IF62|Q96RA9	Missense_Mutation	SNP	ENST00000302957.3	37	c.942G>T	CCDS31537.1	.	.	.	.	.	.	.	.	.	.	C	6.761	0.509285	0.12883	.	.	ENSG00000172457	ENST00000302957	T	0.37584	1.19	5.07	-2.57	0.06248	.	0.185988	0.25897	N	0.027598	T	0.16300	0.0392	N	0.25485	0.75	0.21627	N	0.99962	B	0.09022	0.002	B	0.06405	0.002	T	0.22243	-1.0222	10	0.12103	T	0.63	-7.2121	4.6649	0.12660	0.3055:0.2548:0.0:0.4397	.	314	Q8NGQ1	OR9G4_HUMAN	D	314	ENSP00000307515:E314D	ENSP00000307515:E314D	E	-	3	2	OR9G4	56266922	0.000000	0.05858	0.946000	0.38457	0.892000	0.51952	-4.109000	0.00293	-0.403000	0.07622	-0.152000	0.13540	GAG		0.408	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391945.1	NM_001005284		52	71	1	0	2.64514e-33	1	3.065e-33	52	71				
MTUS2	23281	broad.mit.edu	37	13	29600875	29600875	+	Silent	SNP	C	C	T	rs201916985		TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr13:29600875C>T	ENST00000431530.3	+	1	2128	c.2070C>T	c.(2068-2070)caC>caT	p.H690H		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	680	Mediates interaction with MAPRE1.					cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CTCTTCCCCACGAAGAGAAGG	0.582																																						ENST00000431530.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(2068-2070)caC>caT		microtubule associated tumor suppressor candidate 2		C		0,3914		0,0,1957	52.0	55.0	54.0		2070	-10.5	0.2	13		54	1,8267		0,1,4133	no	coding-synonymous	MTUS2	NM_001033602.2		0,1,6090	TT,TC,CC		0.0121,0.0,0.0082		690/1380	29600875	1,12181	1957	4134	6091	SO:0001819	synonymous_variant	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29600875C>T	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.2070C>T	13.37:g.29600875C>T							p.H690H	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			1	2128	+			680			Mediates interaction with MAPRE1.		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP	ENST00000431530.3	37	c.2070C>T	CCDS45022.1																																																																																				0.582	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		13	18	0	0	0	1	0	13	18				
ARHGAP27	201176	broad.mit.edu	37	17	43475375	43475375	+	Silent	SNP	G	G	A	rs138914274	byFrequency	TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr17:43475375G>A	ENST00000428638.1	-	10	1781	c.1782C>T	c.(1780-1782)caC>caT	p.H594H	ARHGAP27_ENST00000532038.1_Silent_p.H372H|ARHGAP27_ENST00000455881.1_Silent_p.H253H|ARHGAP27_ENST00000532891.2_Silent_p.H572H|ARHGAP27_ENST00000528384.1_Silent_p.H226H|CTB-39G8.3_ENST00000592389.1_RNA|ARHGAP27_ENST00000376922.2_Silent_p.H253H|ARHGAP27_ENST00000582826.1_5'UTR|ARHGAP27_ENST00000442348.1_Silent_p.H567H			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	594	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of Rac GTPase activity (GO:0032855)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|SH3 domain binding (GO:0017124)			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					CCTCCGAGTCGTGCTGGATCA	0.632													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20908	0.0		0.0	False		,,,				2504	0.0					ENST00000532038.1																			0				endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17						c.(1114-1116)caC>caT		Rho GTPase activating protein 27		G		1,4405	2.1+/-5.4	0,1,2202	109.0	93.0	99.0		759	-5.8	0.7	17	dbSNP_134	99	0,8600		0,0,4300	no	coding-synonymous	ARHGAP27	NM_199282.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		253/549	43475375	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	201176				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding	g.chr17:43475375G>A	AK125535	CCDS11498.1, CCDS74082.1	17q21.31	2013-01-10			ENSG00000159314	ENSG00000159314		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	31813	protein-coding gene	gene with protein product		610591	"""SH3 domain containing 20"""	SH3D20		15147912	Standard	NM_199282		Approved	CAMGAP1, FLJ43547, SH3P20	uc002iix.3	Q6ZUM4	OTTHUMG00000166982	ENST00000428638.1:c.1782C>T	17.37:g.43475375G>A						ARHGAP27_ENST00000532891.2_Silent_p.H572H|ARHGAP27_ENST00000582826.1_5'UTR|ARHGAP27_ENST00000455881.1_Silent_p.H253H|ARHGAP27_ENST00000442348.1_Silent_p.H567H|ARHGAP27_ENST00000528384.1_Silent_p.H226H|ARHGAP27_ENST00000428638.1_Silent_p.H594H|ARHGAP27_ENST00000376922.2_Silent_p.H253H	p.H372H			Q6ZUM4	RHG27_HUMAN			9	1251	-	Renal(3;0.0405)		594					A4FU35|A8K3N5|C9JTF3|Q494U0|Q6NWZ8|Q8WY58	Silent	SNP	ENST00000428638.1	37	c.1116C>T																																																																																					0.632	ARHGAP27-202	KNOWN	basic	protein_coding	protein_coding		NM_199282		32	41	0	0	0	1	0	32	41				
USP36	57602	broad.mit.edu	37	17	76803536	76803536	+	Silent	SNP	G	G	A			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr17:76803536G>A	ENST00000542802.3	-	14	2033	c.1590C>T	c.(1588-1590)gaC>gaT	p.D530D	USP36_ENST00000449938.2_Silent_p.D230D|USP36_ENST00000588467.1_5'Flank|USP36_ENST00000312010.6_Silent_p.D530D			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	530					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TTCCAGGGTCGTCTAGGATGG	0.587																																						ENST00000312010.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34						c.(1588-1590)gaC>gaT		ubiquitin specific peptidase 36							64.0	63.0	63.0					17																	76803536		2203	4300	6503	SO:0001819	synonymous_variant	57602				ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:76803536G>A	AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.1590C>T	17.37:g.76803536G>A						USP36_ENST00000542802.2_Silent_p.D530D|USP36_ENST00000449938.2_Silent_p.D230D	p.D530D	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)		14	1914	-			530					Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Silent	SNP	ENST00000542802.3	37	c.1590C>T	CCDS32755.1																																																																																				0.587	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090		14	16	0	0	0	1	0	14	16				
SIGLEC16	400709	broad.mit.edu	37	19	50473580	50473580	+	RNA	SNP	C	C	T			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr19:50473580C>T	ENST00000602139.1	+	0	450							A6NMB1	SIG16_HUMAN	sialic acid binding Ig-like lectin 16 (gene/pseudogene)						cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|lung(6)	10						TCTGCCCCAGCCCTGACTCAG	0.607																																						ENST00000602139.1																			0				endometrium(2)|kidney(2)|lung(6)	10								sialic acid binding Ig-like lectin 16 (gene/pseudogene)																																						400709							g.chr19:50473580C>T	BC030222		19q13.33	2014-03-20	2008-08-04	2008-08-04	ENSG00000161643	ENSG00000161643		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24851	protein-coding gene	gene with protein product			"""sialic acid binding Ig-like lectin, pseudogene 16"""	SIGLECP16		11986327, 18629938	Standard	NR_002825		Approved	Siglec-P16	uc002prf.3	A6NMB1	OTTHUMG00000183074		19.37:g.50473580C>T														0	450	+									RNA	SNP	ENST00000602139.1	37			.	.	.	.	.	.	.	.	.	.	C	11.54	1.670266	0.29693	.	.	ENSG00000161643	ENST00000417280;ENST00000456956	.	.	.	1.92	-3.85	0.04243	.	0.519092	0.17987	N	0.155322	T	0.35537	0.0935	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37686	-0.9695	6	0.87932	D	0	.	5.1653	0.15082	0.5624:0.2513:0.1863:0.0	.	.	.	.	V	154;142	.	ENSP00000396157:A154V	A	+	2	0	SIGLEC16	55165392	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-1.975000	0.01498	-1.077000	0.03121	-0.745000	0.03516	GCC		0.607	SIGLEC16-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000464979.1	NR_002825		32	135	0	0	0	1	0	32	135				
GSTM4	2948	broad.mit.edu	37	1	110201727	110201727	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr1:110201727T>C	ENST00000369836.4	+	7	871	c.562T>C	c.(562-564)Ttt>Ctt	p.F188L	GSTM4_ENST00000326729.5_Missense_Mutation_p.F188L|GSTM4_ENST00000369833.1_Missense_Mutation_p.F147L|GSTM4_ENST00000495742.1_3'UTR|GSTM4_ENST00000336075.5_Missense_Mutation_p.F127L	NM_000850.4	NP_000841.1	Q03013	GSTM4_HUMAN	glutathione S-transferase mu 4	188	GST C-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)			endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	CATCTCCCGCTTTGAGGTGAT	0.478																																						ENST00000369833.1																			0				endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12						c.(439-441)Ttt>Ctt		glutathione S-transferase mu 4	Glutathione(DB00143)						273.0	253.0	260.0					1																	110201727		2203	4297	6500	SO:0001583	missense	2948				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity	g.chr1:110201727T>C	M96234	CCDS806.1, CCDS807.1	1p13.3	2012-06-22	2008-11-26		ENSG00000168765	ENSG00000168765	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4636	protein-coding gene	gene with protein product		138333	"""glutathione S-transferase M4"""			8276420	Standard	NM_000850		Approved		uc001dyf.3	Q03013	OTTHUMG00000011642	ENST00000369836.4:c.562T>C	1.37:g.110201727T>C	ENSP00000358851:p.Phe188Leu					GSTM4_ENST00000495742.1_3'UTR|GSTM4_ENST00000336075.5_Missense_Mutation_p.F127L|GSTM4_ENST00000326729.5_Missense_Mutation_p.F188L|GSTM4_ENST00000369836.4_Missense_Mutation_p.F188L	p.F147L			Q03013	GSTM4_HUMAN		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	5	1353	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	188			GST C-terminal.		A8K765|Q05465|Q32NC1|Q4JNT8|Q6FH87	Missense_Mutation	SNP	ENST00000369836.4	37	c.439T>C	CCDS807.1	.	.	.	.	.	.	.	.	.	.	T	15.73	2.920483	0.52653	.	.	ENSG00000168765	ENST00000369836;ENST00000336075;ENST00000326729;ENST00000369833	T;T;T;T	0.02944	4.1;4.1;4.1;4.1	4.01	-0.159	0.13379	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.065614	0.64402	D	0.000008	T	0.02083	0.0065	M	0.78637	2.42	0.53005	D	0.999969	B;B;B	0.32010	0.351;0.298;0.283	B;B;B	0.38616	0.277;0.167;0.177	T	0.37314	-0.9711	10	0.54805	T	0.06	-14.3345	5.6158	0.17430	0.1637:0.0:0.3395:0.4968	.	127;188;188	Q4JNT8;Q03013-2;Q03013	.;.;GSTM4_HUMAN	L	188;127;188;147	ENSP00000358851:F188L;ENSP00000336744:F127L;ENSP00000316471:F188L;ENSP00000358848:F147L	ENSP00000316471:F188L	F	+	1	0	GSTM4	110003250	0.918000	0.31147	0.220000	0.23810	0.052000	0.14988	1.301000	0.33447	-0.110000	0.12022	0.254000	0.18369	TTT		0.478	GSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032187.1	NM_000850		6	221	0	0	0	1	0	6	221				
OR4K13	390433	broad.mit.edu	37	14	20502653	20502653	+	Missense_Mutation	SNP	G	G	A	rs149397731	byFrequency	TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr14:20502653G>A	ENST00000315693.2	-	1	266	c.265C>T	c.(265-267)Cgt>Tgt	p.R89C	AL359218.1_ENST00000580563.1_RNA	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		ATGGTCTTACGTTCTCGGAGG	0.453																																						ENST00000315693.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24						c.(265-267)Cgt>Tgt		olfactory receptor, family 4, subfamily K, member 13		G	CYS/ARG	2,4404		0,2,2201	94.0	91.0	92.0		265	1.6	0.0	14	dbSNP_134	92	0,8600		0,0,4300	yes	missense	OR4K13	NM_001004714.1	180	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	89/305	20502653	2,13004	2203	4300	6503	SO:0001583	missense	390433				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20502653G>A		CCDS32028.1	14q11.2	2013-09-23			ENSG00000176253	ENSG00000176253		"""GPCR / Class A : Olfactory receptors"""	15351	protein-coding gene	gene with protein product							Standard	NM_001004714		Approved		uc010tkz.2	Q8NH42	OTTHUMG00000170781	ENST00000315693.2:c.265C>T	14.37:g.20502653G>A	ENSP00000319322:p.Arg89Cys						p.R89C	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	266	-	all_cancers(95;0.00108)		89					Q6IF13	Missense_Mutation	SNP	ENST00000315693.2	37	c.265C>T	CCDS32028.1	.	.	.	.	.	.	.	.	.	.	.	2.126	-0.400253	0.04865	4.54E-4	0.0	ENSG00000176253	ENST00000315693	T	0.03124	4.04	3.64	1.59	0.23543	GPCR, rhodopsin-like superfamily (1);	1.682960	0.04042	U	0.303275	T	0.05777	0.0151	L	0.55017	1.72	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.42189	-0.9466	10	0.49607	T	0.09	.	5.8491	0.18683	0.1151:0.0:0.6979:0.187	.	89	Q8NH42	OR4KD_HUMAN	C	89	ENSP00000319322:R89C	ENSP00000319322:R89C	R	-	1	0	OR4K13	19572493	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.962000	0.03841	0.151000	0.19162	0.536000	0.68110	CGT		0.453	OR4K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410344.1			21	27	0	0	0	1	0	21	27				
EID2B	126272	broad.mit.edu	37	19	40023046	40023046	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr19:40023046C>G	ENST00000326282.4	-	1	448	c.397G>C	c.(397-399)Gac>Cac	p.D133H	EID2B_ENST00000601837.1_Intron|CTB-60E11.9_ENST00000594676.1_RNA	NM_152361.1	NP_689574.1			EP300 interacting inhibitor of differentiation 2B											endometrium(1)|lung(1)|urinary_tract(1)	3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGATCCGCGTCAAAGGCTGCT	0.602																																						ENST00000326282.4																			0				endometrium(1)|lung(1)|urinary_tract(1)	3						c.(397-399)Gac>Cac		EP300 interacting inhibitor of differentiation 2B							57.0	52.0	54.0					19																	40023046		2203	4300	6503	SO:0001583	missense	126272				cell differentiation|muscle organ development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr19:40023046C>G	AK096263	CCDS12539.1	19q13.2	2008-02-05				ENSG00000176401			26796	protein-coding gene	gene with protein product						15970276	Standard	NM_152361		Approved	EID-3, FLJ38944	uc002olz.1	Q96D98		ENST00000326282.4:c.397G>C	19.37:g.40023046C>G	ENSP00000317564:p.Asp133His					EID2B_ENST00000601837.1_Intron	p.D133H	NM_152361.1	NP_689574.1	Q96D98	EID2B_HUMAN	Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		1	448	-	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		133						Missense_Mutation	SNP	ENST00000326282.4	37	c.397G>C	CCDS12539.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.381015	0.82792	.	.	ENSG00000176401	ENST00000326282	T	0.55052	0.54	2.37	2.37	0.29283	.	.	.	.	.	T	0.54935	0.1889	N	0.24115	0.695	0.33661	D	0.609685	D	0.89917	1.0	D	0.91635	0.999	T	0.64398	-0.6417	9	0.87932	D	0	.	8.3959	0.32557	0.0:1.0:0.0:0.0	.	133	Q96D98	EID2B_HUMAN	H	133	ENSP00000317564:D133H	ENSP00000317564:D133H	D	-	1	0	EID2B	44714886	0.049000	0.20398	0.970000	0.41538	0.592000	0.36648	2.283000	0.43470	1.651000	0.50673	0.460000	0.39030	GAC		0.602	EID2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464961.1	NM_152361		20	55	0	0	0	1	0	20	55				
MYO7B	4648	broad.mit.edu	37	2	128341727	128341727	+	Silent	SNP	C	C	T	rs374298824		TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr2:128341727C>T	ENST00000409816.2	+	12	1406	c.1374C>T	c.(1372-1374)aaC>aaT	p.N458N	MYO7B_ENST00000428314.1_Silent_p.N458N|MYO7B_ENST00000389524.4_Silent_p.N458N			Q6PIF6	MYO7B_HUMAN	myosin VIIB	458	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		ACTTCGCCAACGAGCACCTGC	0.597																																						ENST00000389524.4																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(1372-1374)aaC>aaT		myosin VIIB		C		0,4406		0,0,2203	63.0	65.0	64.0		1374	-9.4	0.1	2		64	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	MYO7B	NM_001080527.1		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		458/2117	128341727	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128341727C>T		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.1374C>T	2.37:g.128341727C>T						MYO7B_ENST00000428314.1_Silent_p.N458N|MYO7B_ENST00000409816.2_Silent_p.N458N	p.N458N			Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	13	1427	+	Colorectal(110;0.1)		458			Myosin head-like.		Q14786|Q8TEE1	Silent	SNP	ENST00000409816.2	37	c.1374C>T	CCDS46405.1																																																																																				0.597	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		13	20	0	0	0	1	0	13	20				
TMEM130	222865	broad.mit.edu	37	7	98453658	98453658	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr7:98453658C>T	ENST00000416379.2	-	4	704	c.700G>A	c.(700-702)Gcc>Acc	p.A234T	TMEM130_ENST00000345589.4_Missense_Mutation_p.A132T|TMEM130_ENST00000546258.1_Missense_Mutation_p.A215T|TMEM130_ENST00000339375.4_Missense_Mutation_p.A234T|TMEM130_ENST00000450876.1_Missense_Mutation_p.A150T			Q8N3G9	TM130_HUMAN	transmembrane protein 130	234						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TTCAGCGAGGCGGAGAAGTCC	0.632																																						ENST00000450876.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25						c.(448-450)Gcc>Acc		transmembrane protein 130							74.0	63.0	67.0					7																	98453658		2203	4300	6503	SO:0001583	missense	222865					Golgi membrane|integral to membrane		g.chr7:98453658C>T		CCDS5658.1, CCDS47649.1, CCDS47650.1	7q22.1	2006-03-09			ENSG00000166448	ENSG00000166448			25429	protein-coding gene	gene with protein product						12975309	Standard	NM_152913		Approved	DKFZp761L1417, FLJ42643	uc003upo.3	Q8N3G9	OTTHUMG00000154419	ENST00000416379.2:c.700G>A	7.37:g.98453658C>T	ENSP00000413163:p.Ala234Thr					TMEM130_ENST00000546258.1_Missense_Mutation_p.A215T|TMEM130_ENST00000345589.4_Missense_Mutation_p.A132T|TMEM130_ENST00000416379.2_Missense_Mutation_p.A234T|TMEM130_ENST00000339375.4_Missense_Mutation_p.A234T	p.A150T			Q8N3G9	TM130_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		4	1763	-	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		234			PKD.		A4D266|B7Z364|Q8IY46|Q8N0W9|Q8N3R2	Missense_Mutation	SNP	ENST00000416379.2	37	c.448G>A	CCDS47650.1	.	.	.	.	.	.	.	.	.	.	C	2.634	-0.285699	0.05605	.	.	ENSG00000166448	ENST00000416379;ENST00000339375;ENST00000450876;ENST00000345589;ENST00000546258	T;T;T;T;T	0.13307	2.6;2.6;2.6;2.6;2.6	4.16	2.3	0.28687	.	0.284833	0.29438	N	0.012152	T	0.05868	0.0153	N	0.22421	0.69	0.20638	N	0.999871	B;B;B;P	0.34462	0.265;0.265;0.002;0.454	B;B;B;B	0.21151	0.02;0.02;0.002;0.033	T	0.38090	-0.9677	10	0.06757	T	0.87	-13.3145	9.0515	0.36378	0.0:0.806:0.0:0.194	.	234;215;234;132	Q8N3G9-2;B7Z2F1;Q8N3G9;Q8N3G9-3	.;.;TM130_HUMAN;.	T	234;234;150;132;215	ENSP00000413163:A234T;ENSP00000341256:A234T;ENSP00000390200:A150T;ENSP00000330262:A132T;ENSP00000445869:A215T	ENSP00000341256:A234T	A	-	1	0	TMEM130	98291594	0.000000	0.05858	0.286000	0.24833	0.109000	0.19521	-0.472000	0.06623	0.458000	0.26988	0.655000	0.94253	GCC		0.632	TMEM130-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380713.1	NM_152913		8	23	0	0	0	1	0	8	23				
MEIS2	4212	broad.mit.edu	37	15	37186973	37186973	+	Intron	SNP	C	C	T			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr15:37186973C>T	ENST00000561208.1	-	11	1566				MEIS2_ENST00000444725.1_Silent_p.G389G|MEIS2_ENST00000557796.2_Silent_p.G376G|MEIS2_ENST00000382766.2_Intron|MEIS2_ENST00000340545.5_Silent_p.G376G|MEIS2_ENST00000397624.3_Silent_p.G301G|MEIS2_ENST00000338564.5_Intron|MEIS2_ENST00000559085.1_Silent_p.G383G|MEIS2_ENST00000559561.1_Silent_p.G389G|MEIS2_ENST00000559408.1_5'Flank|MEIS2_ENST00000424352.2_Silent_p.G396G|MEIS2_ENST00000397620.2_Silent_p.G301G|MEIS2_ENST00000219869.9_Silent_p.G250G			O14770	MEIS2_HUMAN	Meis homeobox 2						eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		AGTGCCATTGCCCATCCATGC	0.438																																						ENST00000444725.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(1165-1167)ggG>ggA		Meis homeobox 2							221.0	203.0	209.0					15																	37186973		1936	4151	6087	SO:0001627	intron_variant	4212				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr15:37186973C>T	AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"""Homeoboxes / TALE class"""	7001	protein-coding gene	gene with protein product		601740	"""Meis (mouse) homolog 2"", ""Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"""			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.1147+378G>A	15.37:g.37186973C>T						MEIS2_ENST00000559561.1_Silent_p.G389G|MEIS2_ENST00000397624.3_Silent_p.G301G|MEIS2_ENST00000557796.2_Silent_p.G376G|MEIS2_ENST00000424352.2_Silent_p.G396G|MEIS2_ENST00000382766.2_Intron|MEIS2_ENST00000397620.2_Silent_p.G301G|MEIS2_ENST00000340545.5_Silent_p.G376G|MEIS2_ENST00000338564.5_Intron|MEIS2_ENST00000219869.9_Silent_p.G250G|MEIS2_ENST00000561208.1_Intron|MEIS2_ENST00000559085.1_Silent_p.G383G	p.G389G	NM_170674.4|NM_170677.4	NP_733774.1|NP_733777.1	O14770	MEIS2_HUMAN		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)	12	2203	-		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)	396					A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Silent	SNP	ENST00000561208.1	37	c.1167G>A	CCDS10044.1																																																																																				0.438	MEIS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252003.2	NM_170677		4	131	0	0	0	1	0	4	131				
IGLV3-22	28795	broad.mit.edu	37	22	23047120	23047120	+	RNA	SNP	G	G	T			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr22:23047120G>T	ENST00000390307.2	+	0	222									immunoglobulin lambda variable 3-22 (gene/pseudogene)																		TATGCTGACTGGTACCAGCAG	0.557																																						ENST00000390307.2																			0																				64.0	71.0	68.0					22																	23047120		1916	4115	6031			0							g.chr22:23047120G>T	Z73666		22q11.2	2012-02-08	2008-09-12		ENSG00000211661	ENSG00000211661		"""Immunoglobulins / IGL locus"""	5906	other	immunoglobulin gene			"""immunoglobulin lambda variable 3-22"""				Standard	NG_000002		Approved				OTTHUMG00000151229		22.37:g.23047120G>T														0	222	+									RNA	SNP	ENST00000390307.2	37																																																																																						0.557	IGLV3-22-001	KNOWN	not_best_in_genome_evidence|mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321833.2	NG_000002		39	55	1	0	1.96642e-18	1	2.20844e-18	39	55				
OR5C1	392391	broad.mit.edu	37	9	125551964	125551964	+	Silent	SNP	C	C	T	rs374393066		TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr9:125551964C>T	ENST00000373680.2	+	1	815	c.753C>T	c.(751-753)gcC>gcT	p.A251A		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						ACCTCACAGCCGTGGCCATGA	0.597																																						ENST00000373680.2																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						c.(751-753)gcC>gcT		olfactory receptor, family 5, subfamily C, member 1		C		1,4405	2.1+/-5.4	0,1,2202	85.0	73.0	77.0		753	-3.3	0.7	9		77	0,8600		0,0,4300	no	coding-synonymous	OR5C1	NM_001001923.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		251/321	125551964	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	392391				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125551964C>T	AF399514	CCDS35131.1	9q34.2	2012-08-09			ENSG00000148215	ENSG00000148215		"""GPCR / Class A : Olfactory receptors"""	8331	protein-coding gene	gene with protein product				OR5C2P			Standard	NM_001001923		Approved	OR9-F, hRPK-465_F_21	uc011lzd.2	Q8NGR4	OTTHUMG00000020622	ENST00000373680.2:c.753C>T	9.37:g.125551964C>T							p.A251A	NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN			1	815	+			251					B2RN54|B9EGT0|Q96RC4	Silent	SNP	ENST00000373680.2	37	c.753C>T	CCDS35131.1																																																																																				0.597	OR5C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053953.1			34	50	0	0	0	1	0	34	50				
CCDC37	348807	broad.mit.edu	37	3	126137511	126137511	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr3:126137511G>C	ENST00000352312.1	+	7	643	c.544G>C	c.(544-546)Gag>Cag	p.E182Q	CCDC37_ENST00000505024.1_Missense_Mutation_p.E183Q|CCDC37_ENST00000393425.1_Missense_Mutation_p.E183Q	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	182										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		GGCGACCAAAGAGGAGGCCAG	0.647																																						ENST00000393425.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23						c.(547-549)Gag>Cag		coiled-coil domain containing 37							32.0	36.0	34.0					3																	126137511		2198	4294	6492	SO:0001583	missense	348807							g.chr3:126137511G>C	AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.544G>C	3.37:g.126137511G>C	ENSP00000344749:p.Glu182Gln					CCDC37_ENST00000352312.1_Missense_Mutation_p.E182Q|CCDC37_ENST00000505024.1_Missense_Mutation_p.E183Q	p.E183Q			Q494V2	CCD37_HUMAN		GBM - Glioblastoma multiforme(114;0.166)	7	646	+			182					D3DNA8|Q494V1|Q494V4|Q8N838	Missense_Mutation	SNP	ENST00000352312.1	37	c.547G>C	CCDS3037.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.273095	0.59649	.	.	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000505024	T;T;T	0.18657	2.2;2.2;2.2	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.50103	0.1596	M	0.85542	2.76	0.58432	D	0.999994	D;D	0.76494	0.999;0.999	D;D	0.75020	0.974;0.985	T	0.54912	-0.8222	10	0.46703	T	0.11	-32.4345	15.58	0.76425	0.0:0.0:1.0:0.0	.	183;182	Q494V2-2;Q494V2	.;CCD37_HUMAN	Q	182;183;183	ENSP00000344749:E182Q;ENSP00000377076:E183Q;ENSP00000423046:E183Q	ENSP00000344749:E182Q	E	+	1	0	CCDC37	127620201	1.000000	0.71417	0.782000	0.31804	0.049000	0.14656	8.202000	0.89737	2.276000	0.75962	0.491000	0.48974	GAG		0.647	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	NM_182628		5	2	0	0	0	1	0	5	2				
GPC3	2719	broad.mit.edu	37	X	132888183	132888183	+	Missense_Mutation	SNP	G	G	A	rs587778392		TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chrX:132888183G>A	ENST00000370818.3	-	3	803	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C	GPC3_ENST00000543339.1_Missense_Mutation_p.R66C|GPC3_ENST00000394299.2_Missense_Mutation_p.R120C	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	120					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					TTGGCATGGCGAACAACAATT	0.363			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome				G|||	2	0.000529801	0.0	0.0	3775	,	,		11154	0.001		0.0	False		,,,				2504	0.001					ENST00000370818.3			yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	"""T, D, Mis, N, F, S"""	glypican 3			O		Wilms tumour			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36						c.(358-360)Cgc>Tgc		glypican 3							250.0	200.0	217.0					X																	132888183		2203	4300	6503	SO:0001583	missense	2719	Simpson-Golabi-Behmel syndrome	Familial Cancer Database	SGBS		extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity	g.chrX:132888183G>A	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"""Proteoglycans / Cell Surface : Glypicans"""	4451	protein-coding gene	gene with protein product	"""glypican proteoglycan 3"""	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.358C>T	X.37:g.132888183G>A	ENSP00000359854:p.Arg120Cys					GPC3_ENST00000394299.2_Missense_Mutation_p.R120C|GPC3_ENST00000543339.1_Missense_Mutation_p.R66C	p.R120C	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN			3	803	-	Acute lymphoblastic leukemia(192;0.000127)		120					C9JLE3|G3V1R0|Q2L880|Q2L882	Missense_Mutation	SNP	ENST00000370818.3	37	c.358C>T	CCDS14638.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.172221	0.57584	.	.	ENSG00000147257	ENST00000370818;ENST00000394299;ENST00000543339	T;T;T	0.52295	0.67;0.67;0.67	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.66877	0.2834	M	0.64404	1.975	0.53688	D	0.999976	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.985;0.992;0.985;0.985	T	0.70490	-0.4857	10	0.87932	D	0	.	16.8526	0.85998	0.0:0.0:1.0:0.0	.	104;66;120;120	B4DTD8;G3V1R0;C9JLE3;P51654	.;.;.;GPC3_HUMAN	C	120;120;66	ENSP00000359854:R120C;ENSP00000377836:R120C;ENSP00000444222:R66C	ENSP00000359854:R120C	R	-	1	0	GPC3	132715849	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.146000	0.58072	2.185000	0.69588	0.538000	0.68166	CGC		0.363	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058356.1	NM_004484		76	4	0	0	0	1	0	76	4				
PTGFRN	5738	broad.mit.edu	37	1	117487662	117487662	+	Silent	SNP	G	G	A			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr1:117487662G>A	ENST00000393203.2	+	3	927	c.780G>A	c.(778-780)caG>caA	p.Q260Q		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	260	Ig-like C2-type 2.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GCAACTGGCAGGAAATCCAAG	0.567																																						ENST00000393203.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(778-780)caG>caA		prostaglandin F2 receptor inhibitor							33.0	37.0	35.0					1																	117487662		2203	4300	6503	SO:0001819	synonymous_variant	5738					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	g.chr1:117487662G>A	AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9601	protein-coding gene	gene with protein product		601204	"""prostaglandin F2 receptor negative regulator"""			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.780G>A	1.37:g.117487662G>A							p.Q260Q	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)	3	927	+	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)	260			Ig-like C2-type 2.		Q5VVU9|Q8N2K6	Silent	SNP	ENST00000393203.2	37	c.780G>A	CCDS890.1																																																																																				0.567	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440		17	21	0	0	0	1	0	17	21				
MROH2B	133558	broad.mit.edu	37	5	41004898	41004898	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr5:41004898G>C	ENST00000399564.4	-	36	4439	c.3989C>G	c.(3988-3990)aCa>aGa	p.T1330R	MROH2B_ENST00000506092.2_Missense_Mutation_p.T885R	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1330																	CCCGGATGCTGTGTTGCCGAG	0.478																																						ENST00000399564.4																			0											c.(3988-3990)aCa>aGa		maestro heat-like repeat family member 2B							85.0	82.0	83.0					5																	41004898		1916	4132	6048	SO:0001583	missense	133558							g.chr5:41004898G>C		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.3989C>G	5.37:g.41004898G>C	ENSP00000382476:p.Thr1330Arg					MROH2B_ENST00000506092.2_Missense_Mutation_p.T885R	p.T1330R	NM_173489.4	NP_775760.3					36	4439	-								Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.3989C>G	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.045309	0.36085	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.65178	-0.14;-0.14	6.0	3.91	0.45181	Armadillo-like helical (1);Armadillo-type fold (1);	0.331219	0.26642	N	0.023243	T	0.51007	0.1649	L	0.44542	1.39	0.19300	N	0.999976	P	0.35468	0.503	B	0.34452	0.183	T	0.52419	-0.8578	10	0.72032	D	0.01	.	8.5192	0.33264	0.0908:0.1592:0.75:0.0	.	1330	Q7Z745	HTRB2_HUMAN	R	885;1035;1330	ENSP00000441504:T885R;ENSP00000382476:T1330R	ENSP00000296803:T1035R	T	-	2	0	HEATR7B2	41040655	0.005000	0.15991	0.856000	0.33681	0.743000	0.42351	1.206000	0.32321	1.550000	0.49438	0.643000	0.83706	ACA		0.478	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		30	44	0	0	0	1	0	30	44				
SPEN	23013	broad.mit.edu	37	1	16261678	16261678	+	Silent	SNP	G	G	A	rs554633241		TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr1:16261678G>A	ENST00000375759.3	+	11	9147	c.8943G>A	c.(8941-8943)acG>acA	p.T2981T		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2981					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGGGGTCCACGCTCACGCCCC	0.597																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(8941-8943)acG>acA		spen family transcriptional repressor							66.0	70.0	69.0					1																	16261678		2203	4300	6503	SO:0001819	synonymous_variant	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16261678G>A		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.8943G>A	1.37:g.16261678G>A							p.T2981T	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	9147	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	2981					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	ENST00000375759.3	37	c.8943G>A	CCDS164.1																																																																																				0.597	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		3	43	0	0	0	1	0	3	43				
OR1N1	138883	broad.mit.edu	37	9	125289050	125289050	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr9:125289050A>G	ENST00000304880.2	-	1	522	c.523T>C	c.(523-525)Ttt>Ctt	p.F175L		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TCACAGAAAAAGTGAGCAATT	0.502																																						ENST00000304880.2																			0				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(523-525)Ttt>Ctt		olfactory receptor, family 1, subfamily N, member 1							93.0	82.0	86.0					9																	125289050		2203	4300	6503	SO:0001583	missense	138883				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125289050A>G	U86216	CCDS6844.1	9q34.11	2012-08-09			ENSG00000171505	ENSG00000171505		"""GPCR / Class A : Olfactory receptors"""	8221	protein-coding gene	gene with protein product				OR1N3		9500546	Standard	NM_012363		Approved	OR1-26	uc004bmn.1	Q8NGS0	OTTHUMG00000020608	ENST00000304880.2:c.523T>C	9.37:g.125289050A>G	ENSP00000306974:p.Phe175Leu						p.F175L	NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN			1	522	-			175					A3KFM1|O43870|Q6IF16|Q96R93	Missense_Mutation	SNP	ENST00000304880.2	37	c.523T>C	CCDS6844.1	.	.	.	.	.	.	.	.	.	.	A	16.15	3.042894	0.55003	.	.	ENSG00000171505	ENST00000304880	T	0.00346	8.01	3.75	3.75	0.43078	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36665	U	0.002472	T	0.00845	0.0028	M	0.85099	2.735	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.26360	-1.0105	10	0.87932	D	0	.	11.7371	0.51771	1.0:0.0:0.0:0.0	.	175	Q8NGS0	OR1N1_HUMAN	L	175	ENSP00000306974:F175L	ENSP00000306974:F175L	F	-	1	0	OR1N1	124328871	0.003000	0.15002	0.137000	0.22149	0.064000	0.16182	1.811000	0.38942	1.612000	0.50221	0.445000	0.29226	TTT		0.502	OR1N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053938.1			20	19	0	0	0	1	0	20	19				
ZSCAN22	342945	broad.mit.edu	37	19	58846117	58846117	+	Splice_Site	SNP	G	G	T			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr19:58846117G>T	ENST00000329665.4	+	2	96		c.e2-1			NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		CATTCCTGCAGGCCCAGTTCC	0.597																																						ENST00000329665.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16						c.e2-1		zinc finger and SCAN domain containing 22							11.0	10.0	10.0					19																	58846117		872	1991	2863	SO:0001630	splice_region_variant	342945				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58846117G>T	M20675	CCDS12975.1	19q13.43	2013-01-08	2006-09-20	2006-09-20				"""-"", ""Zinc fingers, C2H2-type"""	4929	protein-coding gene	gene with protein product	"""oncogene HKR2"""	165260	"""zinc finger protein 50"", ""GLI-Kruppel family member HKR2"""	ZNF50, HKR2		2850480, 1505991	Standard	NM_181846		Approved		uc002qsc.2	P10073		ENST00000329665.4:c.-51-1G>T	19.37:g.58846117G>T								NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)	2	96	+		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)						Q15922|Q7Z3L8	Splice_Site	SNP	ENST00000329665.4	37		CCDS12975.1																																																																																				0.597	ZSCAN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466765.1	NM_181846	Intron	4	10	1	0	0.150653	1	0.154897	4	10				
TTN	7273	broad.mit.edu	37	2	179453326	179453326	+	Silent	SNP	A	A	G			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr2:179453326A>G	ENST00000591111.1	-	254	58427	c.58203T>C	c.(58201-58203)aaT>aaC	p.N19401N	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.N12102N|TTN_ENST00000460472.2_Silent_p.N11977N|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.N21042N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Silent_p.N18474N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.N12169N			Q8WZ42	TITIN_HUMAN	titin	19401	Fibronectin type-III 40. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCAATTTCATTTTCTGCCT	0.453																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(63124-63126)aaT>aaC		titin							230.0	216.0	220.0					2																	179453326		1907	4121	6028	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179453326A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.58203T>C	2.37:g.179453326A>G						TTN_ENST00000359218.5_Silent_p.N12102N|TTN_ENST00000342992.6_Silent_p.N18474N|TTN_ENST00000342175.6_Silent_p.N12169N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.N19401N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Silent_p.N11977N|TTN-AS1_ENST00000419746.1_RNA	p.N21042N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		304	63350	-			19401			Fibronectin type-III 52.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.63126T>C																																																																																					0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		13	248	0	0	0	1	0	13	248				
OR10G8	219869	broad.mit.edu	37	11	123901065	123901065	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr11:123901065G>A	ENST00000431524.1	+	1	769	c.736G>A	c.(736-738)Gtg>Atg	p.V246M		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	246						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CCACTGTATCGTGGTCCTTTG	0.542																																						ENST00000431524.1																			0				breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(736-738)Gtg>Atg		olfactory receptor, family 10, subfamily G, member 8							152.0	130.0	137.0					11																	123901065		2201	4299	6500	SO:0001583	missense	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123901065G>A	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.736G>A	11.37:g.123901065G>A	ENSP00000389072:p.Val246Met						p.V246M	NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	769	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	246					B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	c.736G>A	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	G	2.180	-0.387797	0.04932	.	.	ENSG00000234560	ENST00000431524	T	0.00277	8.34	2.91	0.983	0.19767	GPCR, rhodopsin-like superfamily (1);	0.191999	0.25442	N	0.030651	T	0.00356	0.0011	M	0.91249	3.19	0.09310	N	1	P	0.38455	0.632	B	0.38106	0.265	T	0.33111	-0.9881	10	0.72032	D	0.01	.	8.3844	0.32491	0.2048:0.0:0.7952:0.0	.	246	Q8NGN5	O10G8_HUMAN	M	246	ENSP00000389072:V246M	ENSP00000389072:V246M	V	+	1	0	OR10G8	123406275	0.002000	0.14202	0.281000	0.24762	0.007000	0.05969	1.171000	0.31896	0.111000	0.17947	-1.019000	0.02448	GTG		0.542	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		57	64	0	0	0	1	0	57	64				
PXMP4	11264	broad.mit.edu	37	20	32308005	32308005	+	Silent	SNP	G	G	C			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr20:32308005G>C	ENST00000409299.3	-	1	101	c.9C>G	c.(7-9)gcC>gcG	p.A3A	PXMP4_ENST00000217398.3_Silent_p.A3A|PXMP4_ENST00000344022.3_Silent_p.A3A	NM_007238.4	NP_009169.3	Q9Y6I8	PXMP4_HUMAN	peroxisomal membrane protein 4, 24kDa	3						integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)				NS(1)|endometrium(2)|large_intestine(2)|lung(8)	13						GCTGCGGCGGGGCTGCCATAG	0.682																																						ENST00000409299.3																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(8)	13						c.(7-9)gcC>gcG		peroxisomal membrane protein 4, 24kDa							14.0	15.0	15.0					20																	32308005		2147	4217	6364	SO:0001819	synonymous_variant	11264					integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane	protein transporter activity	g.chr20:32308005G>C	AF072864	CCDS13225.1, CCDS13226.1	20q11.22	2008-07-02	2002-08-29		ENSG00000101417	ENSG00000101417			15920	protein-coding gene	gene with protein product	"""24 kDa peroxisomal intrinsic membrane protein"""		"""peroxisomal membrane protein 4 (24kD)"""			10366717	Standard	NM_183397		Approved	PMP24	uc002wzv.3	Q9Y6I8	OTTHUMG00000032273	ENST00000409299.3:c.9C>G	20.37:g.32308005G>C						PXMP4_ENST00000217398.3_Silent_p.A3A|PXMP4_ENST00000344022.3_Silent_p.A3A	p.A3A	NM_007238.4	NP_009169.3	Q9Y6I8	PXMP4_HUMAN			1	101	-			3					A2A2I7|Q9H0T4	Silent	SNP	ENST00000409299.3	37	c.9C>G	CCDS13225.1																																																																																				0.682	PXMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078739.2	NM_007238		10	19	0	0	0	1	0	10	19				
SLC26A3	1811	broad.mit.edu	37	7	107427813	107427813	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr7:107427813C>T	ENST00000340010.5	-	7	1061	c.877G>A	c.(877-879)Gaa>Aaa	p.E293K	SLC26A3_ENST00000422236.2_Missense_Mutation_p.E258K	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	293					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ATAATGAATTCGATTGGAATG	0.378																																						ENST00000340010.5																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(877-879)Gaa>Aaa		solute carrier family 26 (anion exchanger), member 3							170.0	162.0	165.0					7																	107427813		2203	4300	6503	SO:0001583	missense	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107427813C>T	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.877G>A	7.37:g.107427813C>T	ENSP00000345873:p.Glu293Lys					SLC26A3_ENST00000422236.2_Missense_Mutation_p.E258K	p.E293K	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN			7	1061	-			293						Missense_Mutation	SNP	ENST00000340010.5	37	c.877G>A	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345137	0.82022	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	D;D	0.93247	-3.19;-3.19	5.4	5.4	0.78164	Sulphate transporter (1);	0.000000	0.85682	D	0.000000	D	0.97996	0.9340	H	0.95917	3.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98900	1.0776	10	0.87932	D	0	.	19.5444	0.95285	0.0:1.0:0.0:0.0	.	258;293	G5E9U3;P40879	.;S26A3_HUMAN	K	258;293	ENSP00000415817:E258K;ENSP00000345873:E293K	ENSP00000345873:E293K	E	-	1	0	SLC26A3	107215049	1.000000	0.71417	0.992000	0.48379	0.392000	0.30506	6.838000	0.75359	2.683000	0.91414	0.655000	0.94253	GAA		0.378	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		72	142	0	0	0	1	0	72	142				
TRIM15	89870	broad.mit.edu	37	6	30136149	30136149	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr6:30136149C>T	ENST00000376694.4	+	3	1019	c.550C>T	c.(550-552)Cga>Tga	p.R184*	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	184					innate immune response (GO:0045087)|mesodermal cell fate determination (GO:0007500)|negative regulation of intracellular transport of viral material (GO:1901253)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						GGAGCAGCAGCGATGTCTCCT	0.527																																						ENST00000376694.4																			0				large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						c.(550-552)Cga>Tga		tripartite motif containing 15							45.0	46.0	46.0					6																	30136149		1510	2707	4217	SO:0001587	stop_gained	89870				mesodermal cell fate determination	intracellular	zinc ion binding	g.chr6:30136149C>T	AF220132, U34249	CCDS4677.1	6p21.33	2013-01-09	2011-01-25		ENSG00000204610	ENSG00000204610		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16284	protein-coding gene	gene with protein product			"""zinc finger protein 178"", ""tripartite motif-containing 15"""	ZNF178		11331580, 8304341, 8812418	Standard	NM_033229		Approved	ZNFB7, RNF93	uc010jrx.3	Q9C019	OTTHUMG00000031031	ENST00000376694.4:c.550C>T	6.37:g.30136149C>T	ENSP00000365884:p.Arg184*					TRIM15_ENST00000376688.1_Intron	p.R184*	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN			3	1019	+			184					A2BEC9|O95604|Q8IUX9|Q9C018	Nonsense_Mutation	SNP	ENST00000376694.4	37	c.550C>T	CCDS4677.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138795	0.77775	.	.	ENSG00000204610	ENST00000376695;ENST00000376694	.	.	.	5.92	4.1	0.47936	.	0.291166	0.25192	N	0.032452	.	.	.	.	.	.	0.18873	N	0.999982	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	4.6397	0.12543	0.1623:0.6096:0.1467:0.0814	.	.	.	.	X	115;184	.	ENSP00000365884:R184X	R	+	1	2	TRIM15	30244128	0.001000	0.12720	0.025000	0.17156	0.351000	0.29236	0.610000	0.24253	0.791000	0.33826	0.643000	0.83706	CGA		0.527	TRIM15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076026.2	NM_033229		19	27	0	0	0	1	0	19	27				
TUBB8P7	197331	broad.mit.edu	37	16	90162172	90162172	+	RNA	SNP	T	T	C	rs201872132		TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr16:90162172T>C	ENST00000564451.1	+	0	1525				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		GATGGCTGCCTGTGACCCCCG	0.567																																						ENST00000567960.1																			0																																																			0							g.chr16:90162172T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162172T>C						TUBB8P7_ENST00000564451.1_RNA								0	908	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.567	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	115	0	0	0	1	0	4	115				
IGKV1-6	28943	broad.mit.edu	37	2	89266236	89266236	+	RNA	SNP	G	G	T			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr2:89266236G>T	ENST00000464162.1	-	0	50									immunoglobulin kappa variable 1-6																		CCCAGGAGCTGAGCGGGGACC	0.577																																						ENST00000464162.1																			0																				121.0	116.0	118.0					2																	89266236		1912	4111	6023			0							g.chr2:89266236G>T	M64858		2p11.2	2012-02-10			ENSG00000239855	ENSG00000239855		"""Immunoglobulins / IGK locus"""	5742	other	immunoglobulin gene							Standard	NG_000834		Approved				OTTHUMG00000151559		2.37:g.89266236G>T														0	50	-									RNA	SNP	ENST00000464162.1	37																																																																																						0.577	IGKV1-6-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323134.2	NG_000834		63	145	1	0	1.02487e-32	1	1.16899e-32	63	145				
TNFSF13B	10673	broad.mit.edu	37	13	108922745	108922745	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr13:108922745C>T	ENST00000375887.4	+	2	575	c.397C>T	c.(397-399)Cgt>Tgt	p.R133C	TNFSF13B_ENST00000430559.1_Missense_Mutation_p.R133C|TNFSF13B_ENST00000542136.1_Missense_Mutation_p.R133C|TNFSF13B_ENST00000479435.1_3'UTR	NM_006573.4	NP_006564.1	Q9Y275	TN13B_HUMAN	tumor necrosis factor (ligand) superfamily, member 13b	133		Cleavage.			B cell costimulation (GO:0031296)|B cell homeostasis (GO:0001782)|cell proliferation (GO:0008283)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of germinal center formation (GO:0002636)|positive regulation of T cell proliferation (GO:0042102)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)		Belimumab(DB08879)	CAGAAATAAGCGTGCCGTTCA	0.463																																						ENST00000375887.4																			0				large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10						c.(397-399)Cgt>Tgt		tumor necrosis factor (ligand) superfamily, member 13b							96.0	97.0	97.0					13																	108922745		2203	4300	6503	SO:0001583	missense	10673				cell proliferation|immune response|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity|tumor necrosis factor receptor binding	g.chr13:108922745C>T	AF136293	CCDS9509.1, CCDS45067.1	13q32-q34	2008-05-14			ENSG00000102524	ENSG00000102524		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11929	protein-coding gene	gene with protein product		603969		TNFSF20		10331498, 10359578	Standard	NM_006573		Approved	BAFF, THANK, BLYS, TALL-1, TALL1, CD257	uc001vqr.3	Q9Y275	OTTHUMG00000017329	ENST00000375887.4:c.397C>T	13.37:g.108922745C>T	ENSP00000365048:p.Arg133Cys					TNFSF13B_ENST00000542136.1_Missense_Mutation_p.R133C|TNFSF13B_ENST00000479435.1_3'UTR|TNFSF13B_ENST00000430559.1_Missense_Mutation_p.R133C	p.R133C	NM_006573.4	NP_006564.1	Q9Y275	TN13B_HUMAN	all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)		2	575	+	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		133				Cleavage.	E0ADT7|Q6FHD6|Q7Z5J2	Missense_Mutation	SNP	ENST00000375887.4	37	c.397C>T	CCDS9509.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.090526	0.55968	.	.	ENSG00000102524	ENST00000430559;ENST00000375887;ENST00000542136	T;T;T	0.51817	0.69;0.69;0.69	5.02	4.08	0.47627	.	0.994888	0.08161	N	0.988452	T	0.58509	0.2127	L	0.31476	0.935	0.51233	D	0.999913	D;P	0.89917	1.0;0.733	D;B	0.91635	0.999;0.134	T	0.53961	-0.8364	10	0.87932	D	0	-10.7098	11.7911	0.52070	0.2505:0.7495:0.0:0.0	.	133;133	Q9Y275-2;Q9Y275	.;TN13B_HUMAN	C	133	ENSP00000389540:R133C;ENSP00000365048:R133C;ENSP00000445334:R133C	ENSP00000365048:R133C	R	+	1	0	TNFSF13B	107720746	0.892000	0.30473	0.594000	0.28785	0.037000	0.13140	1.491000	0.35583	2.327000	0.79052	0.655000	0.94253	CGT		0.463	TNFSF13B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045739.3			23	48	0	0	0	1	0	23	48				
GABRA4	2557	broad.mit.edu	37	4	46967202	46967202	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr4:46967202G>A	ENST00000264318.3	-	8	1901	c.919C>T	c.(919-921)Cga>Tga	p.R307*		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	307					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	AAAGAATGTCGTGCACTGATG	0.433																																					Ovarian(6;283 369 8234 12290 33402)	ENST00000264318.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(919-921)Cga>Tga		gamma-aminobutyric acid (GABA) A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						174.0	138.0	150.0					4																	46967202		2203	4300	6503	SO:0001587	stop_gained	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46967202G>A		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.919C>T	4.37:g.46967202G>A	ENSP00000264318:p.Arg307*						p.R307*	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN			8	1901	-			307					Q8IYR7	Nonsense_Mutation	SNP	ENST00000264318.3	37	c.919C>T	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	G	46	12.531977	0.99675	.	.	ENSG00000109158	ENST00000264318	.	.	.	4.66	1.45	0.22620	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.5104	0.56003	0.0:0.0:0.4209:0.5791	.	.	.	.	X	307	.	ENSP00000264318:R307X	R	-	1	2	GABRA4	46661959	0.995000	0.38212	0.907000	0.35723	0.962000	0.63368	2.045000	0.41250	0.104000	0.17725	0.591000	0.81541	CGA		0.433	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			45	77	0	0	0	1	0	45	77				
CRCT1	54544	broad.mit.edu	37	1	152487972	152487972	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr1:152487972C>G	ENST00000368790.3	+	2	186	c.113C>G	c.(112-114)tCc>tGc	p.S38C		NM_019060.2	NP_061933.1	Q9UGL9	CRCT1_HUMAN	cysteine-rich C-terminal 1	38										lung(1)|ovary(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			tcctcctcctccTGCTGCGGC	0.736																																						ENST00000368790.3																			0				lung(1)|ovary(1)	2						c.(112-114)tCc>tGc		cysteine-rich C-terminal 1							6.0	7.0	7.0					1																	152487972		1916	3956	5872	SO:0001583	missense	54544							g.chr1:152487972C>G	AJ243662	CCDS1012.1	1q21	2008-02-05	2006-12-18	2006-12-18	ENSG00000169509	ENSG00000169509			29875	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 42"""	C1orf42		11230159	Standard	NM_019060		Approved	NICE-1	uc001ezz.3	Q9UGL9	OTTHUMG00000012391	ENST00000368790.3:c.113C>G	1.37:g.152487972C>G	ENSP00000357779:p.Ser38Cys						p.S38C	NM_019060.2	NP_061933.1	Q9UGL9	CRCT1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	186	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		38					A4QN00|Q6IAD7	Missense_Mutation	SNP	ENST00000368790.3	37	c.113C>G	CCDS1012.1	.	.	.	.	.	.	.	.	.	.	C	7.755	0.704208	0.15172	.	.	ENSG00000169509	ENST00000368790	T	0.55760	0.5	4.14	1.96	0.26148	.	0.868211	0.09605	N	0.779746	T	0.24314	0.0589	.	.	.	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.41805	-0.9488	9	0.87932	D	0	-5.0502	11.0423	0.47838	0.0:0.5362:0.4638:0.0	.	38	Q9UGL9	CRCT1_HUMAN	C	38	ENSP00000357779:S38C	ENSP00000357779:S38C	S	+	2	0	CRCT1	150754596	0.172000	0.23043	0.004000	0.12327	0.789000	0.44602	1.791000	0.38744	0.449000	0.26747	0.650000	0.86243	TCC		0.736	CRCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034511.1	NM_019060		3	27	0	0	0	1	0	3	27				
SPEF1	25876	broad.mit.edu	37	20	3760357	3760357	+	Missense_Mutation	SNP	C	C	T	rs201214511		TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr20:3760357C>T	ENST00000379756.3	-	2	335	c.175G>A	c.(175-177)Gcc>Acc	p.A59T	SPEF1_ENST00000463490.1_5'UTR	NM_015417.4	NP_056232.2	Q9Y4P9	SPEF1_HUMAN	sperm flagellar 1	59						axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						AGAGAGTTGGCGGGGACATAA	0.537																																						ENST00000379756.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						c.(175-177)Gcc>Acc		sperm flagellar 1							95.0	99.0	98.0					20																	3760357		2010	4159	6169	SO:0001583	missense	25876					cilium axoneme|cytoplasm|cytoskeleton		g.chr20:3760357C>T	AL080154	CCDS13063.2	20p13	2013-09-23	2007-08-20	2007-08-20	ENSG00000101222	ENSG00000101222			15874	protein-coding gene	gene with protein product		610674	"""chromosome 20 open reading frame 28"""	C20orf28		15979255	Standard	NM_015417		Approved	DKFZP434I114, SPEF1A	uc002wjj.3	Q9Y4P9	OTTHUMG00000031756	ENST00000379756.3:c.175G>A	20.37:g.3760357C>T	ENSP00000369080:p.Ala59Thr					SPEF1_ENST00000463490.1_5'UTR	p.A59T	NM_015417.4	NP_056232.2	Q9Y4P9	SPEF1_HUMAN			2	335	-			59					A5YM71|D3DVY0|Q5JX78	Missense_Mutation	SNP	ENST00000379756.3	37	c.175G>A	CCDS13063.2	.	.	.	.	.	.	.	.	.	.	C	32	5.116876	0.94385	.	.	ENSG00000101222	ENST00000379756	T	0.23552	1.9	5.14	5.14	0.70334	Calponin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.48804	0.1520	M	0.67569	2.06	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.35276	-0.9795	10	0.31617	T	0.26	-23.6276	16.0858	0.81049	0.0:1.0:0.0:0.0	.	59	Q9Y4P9	SPEF1_HUMAN	T	59	ENSP00000369080:A59T	ENSP00000369080:A59T	A	-	1	0	SPEF1	3708357	0.999000	0.42202	1.000000	0.80357	0.966000	0.64601	4.209000	0.58493	2.395000	0.81488	0.555000	0.69702	GCC		0.537	SPEF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077760.2			21	40	0	0	0	1	0	21	40				
KLRC4	8302	broad.mit.edu	37	12	10562063	10562063	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr12:10562063T>C	ENST00000309384.1	-	1	293	c.112A>G	c.(112-114)Ata>Gta	p.I38V	KLRC4-KLRK1_ENST00000539300.1_Missense_Mutation_p.N29S	NM_013431.2	NP_038459.1	O43908	NKG2F_HUMAN	killer cell lectin-like receptor subfamily C, member 4	38					cellular defense response (GO:0006968)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						ACTTGGAATATTTCCTGTTTG	0.388																																						ENST00000539300.1																			0											c.(85-87)aAt>aGt									219.0	211.0	214.0					12																	10562063		2202	4300	6502	SO:0001583	missense	0							g.chr12:10562063T>C	U96846	CCDS8624.1	12p13.2-p12.3	2008-08-05			ENSG00000183542	ENSG00000183542		"""Killer cell lectin-like receptors"""	6377	protein-coding gene	gene with protein product		602893				9598306	Standard	NM_013431		Approved	NKG2-F	uc001qye.3	O43908	OTTHUMG00000168575	ENST00000309384.1:c.112A>G	12.37:g.10562063T>C	ENSP00000310216:p.Ile38Val					KLRC4_ENST00000309384.1_Missense_Mutation_p.I38V	p.N29S							1	85	-								O60851	Missense_Mutation	SNP	ENST00000309384.1	37	c.86A>G	CCDS8624.1	.	.	.	.	.	.	.	.	.	.	T	13.12	2.140872	0.37825	.	.	ENSG00000183542	ENST00000309384	T	0.05717	3.4	3.78	1.01	0.19927	.	0.107484	0.41938	D	0.000785	T	0.08891	0.0220	L	0.53249	1.67	0.09310	N	1	D	0.56521	0.976	P	0.52672	0.706	T	0.19844	-1.0293	10	0.24483	T	0.36	.	3.8186	0.08825	0.2187:0.0:0.2259:0.5554	.	38	O43908	NKG2F_HUMAN	V	38	ENSP00000310216:I38V	ENSP00000310216:I38V	I	-	1	0	KLRC4	10453330	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.105000	0.15333	0.556000	0.29098	0.377000	0.23210	ATA		0.388	KLRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400108.1	NM_013431		66	89	0	0	0	1	0	66	89				
CACNA1B	774	broad.mit.edu	37	9	140964211	140964211	+	Splice_Site	SNP	A	A	T			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr9:140964211A>T	ENST00000371372.1	+	32	4815	c.4670A>T	c.(4669-4671)gAa>gTa	p.E1557V	CACNA1B_ENST00000371355.4_Intron|CACNA1B_ENST00000371357.1_Intron|CACNA1B_ENST00000277549.5_Intron|CACNA1B_ENST00000371363.1_Intron|CACNA1B_ENST00000277551.2_Splice_Site_p.E1557V	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1557					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CACATGTAGGAAACGGTTGGT	0.488																																						ENST00000371372.1																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.e32-1		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						141.0	138.0	139.0					9																	140964211		2053	4210	6263	SO:0001630	splice_region_variant	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140964211A>T	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.4669-1A>T	9.37:g.140964211A>T						CACNA1B_ENST00000371355.4_Intron|CACNA1B_ENST00000371357.1_Intron|CACNA1B_ENST00000277549.5_Intron|CACNA1B_ENST00000371363.1_Intron|CACNA1B_ENST00000277551.2_Splice_Site_p.E1557_splice	p.E1557_splice	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	32	4815	+	all_cancers(76;0.166)		1557					B1AQK5	Splice_Site	SNP	ENST00000371372.1	37	c.4668_splice	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	A	14.21	2.466033	0.43839	.	.	ENSG00000148408	ENST00000371372;ENST00000277551	D;D	0.98493	-4.96;-4.96	5.11	5.11	0.69529	.	.	.	.	.	D	0.96291	0.8790	N	0.16478	0.41	0.80722	D	1	.	.	.	.	.	.	D	0.96611	0.9452	7	0.48119	T	0.1	.	14.9102	0.70752	1.0:0.0:0.0:0.0	.	.	.	.	V	1557	ENSP00000360423:E1557V;ENSP00000277551:E1557V	ENSP00000277551:E1557V	E	+	2	0	CACNA1B	140084032	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.277000	0.72608	1.929000	0.55896	0.533000	0.62120	GAA		0.488	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718	Missense_Mutation	4	6	0	0	0	1	0	4	6				
ADH1C	126	broad.mit.edu	37	4	100257916	100257916	+	RNA	SNP	G	G	A	rs572227882	byFrequency	TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr4:100257916G>A	ENST00000515683.1	-	0	1472					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|zinc ion binding (GO:0008270)								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	GTTTCAAAACGTCAGGACGGT	0.423																																						ENST00000515683.1																			0													alcohol dehydrogenase 1C (class I), gamma polypeptide	Fomepizole(DB01213)|NADH(DB00157)						178.0	167.0	171.0					4																	100257916		2203	4300	6503			126				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding	g.chr4:100257916G>A	M12272		4q23	2010-03-16			ENSG00000248144	ENSG00000248144	1.1.1.1	"""Alcohol dehydrogenases"""	251	protein-coding gene	gene with protein product		103730		ADH3		3006456	Standard	NM_000669		Approved		uc031sgp.1	P00326	OTTHUMG00000161422		4.37:g.100257916G>A								NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	0	1472	-								Q4PJ18|Q5WRV0|Q6LBW4|Q6NWV0|Q6NZA7	RNA	SNP	ENST00000515683.1	37																																																																																						0.423	ADH1C-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000364877.2	NM_000669		27	25	0	0	0	1	0	27	25				
LPIN2	9663	broad.mit.edu	37	18	2951271	2951271	+	Silent	SNP	T	T	C			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr18:2951271T>C	ENST00000261596.4	-	4	610	c.372A>G	c.(370-372)aaA>aaG	p.K124K	RP11-737O24.2_ENST00000581488.1_RNA|RP11-737O24.2_ENST00000584431.1_RNA	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	124					cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		CTCCACCCGATTTCACCAAAG	0.413																																						ENST00000261596.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29						c.(370-372)aaA>aaG		lipin 2							88.0	84.0	86.0					18																	2951271		2203	4300	6503	SO:0001819	synonymous_variant	9663				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity	g.chr18:2951271T>C	D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.372A>G	18.37:g.2951271T>C						RP11-737O24.2_ENST00000584431.1_RNA	p.K124K	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN		READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)	4	610	-			124					A7MD25|D3DUH3	Silent	SNP	ENST00000261596.4	37	c.372A>G	CCDS11829.1																																																																																				0.413	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2	NM_014646		54	60	0	0	0	1	0	54	60				
PPIL2	23759	broad.mit.edu	37	22	22024879	22024879	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr22:22024879G>A	ENST00000335025.8	+	3	198	c.107G>A	c.(106-108)cGt>cAt	p.R36H	PPIL2_ENST00000492445.2_Missense_Mutation_p.R36H|PPIL2_ENST00000398831.3_Missense_Mutation_p.R36H|PPIL2_ENST00000412327.1_Missense_Mutation_p.R36H|PPIL2_ENST00000456792.2_Missense_Mutation_p.R36H|PPIL2_ENST00000406385.1_Missense_Mutation_p.R36H					peptidylprolyl isomerase (cyclophilin)-like 2											endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					AATTTTCGTCGTTTACCTTTT	0.373																																						ENST00000406385.1																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17						c.(106-108)cGt>cAt		peptidylprolyl isomerase (cyclophilin)-like 2							182.0	170.0	174.0					22																	22024879		2202	4300	6502	SO:0001583	missense	23759				blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity	g.chr22:22024879G>A		CCDS13793.1	22q11.21	2013-01-29			ENSG00000100023	ENSG00000100023		"""U-box domain containing"""	9261	protein-coding gene	gene with protein product	"""U-box domain containing 7"""	607588				10591208	Standard	NM_014337		Approved	UBOX7, CYC4, Cyp-60	uc002zvh.4	Q13356	OTTHUMG00000030174	ENST00000335025.8:c.107G>A	22.37:g.22024879G>A	ENSP00000334553:p.Arg36His					PPIL2_ENST00000492445.2_Missense_Mutation_p.R36H|PPIL2_ENST00000335025.7_Missense_Mutation_p.R36H|PPIL2_ENST00000456792.2_Missense_Mutation_p.R36H|PPIL2_ENST00000398831.3_Missense_Mutation_p.R36H|PPIL2_ENST00000412327.1_Missense_Mutation_p.R36H	p.R36H			Q13356	PPIL2_HUMAN			3	167	+	Colorectal(54;0.105)		36						Missense_Mutation	SNP	ENST00000335025.8	37	c.107G>A	CCDS13793.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.603416	0.87157	.	.	ENSG00000100023	ENST00000412327;ENST00000335025;ENST00000398831;ENST00000492445;ENST00000458567;ENST00000406385;ENST00000456792	T;T;T;T;T;T	0.31247	1.5;1.53;1.53;1.53;1.53;1.51	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.64360	0.2591	M	0.93462	3.42	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.991;0.975;0.998	T	0.73525	-0.3955	10	0.87932	D	0	.	13.3043	0.60342	0.0:0.0:1.0:0.0	.	36;36;36	E7EW80;Q13356-2;Q13356	.;.;PPIL2_HUMAN	H	36;36;36;36;67;36;36	ENSP00000390427:R36H;ENSP00000334553:R36H;ENSP00000381812:R36H;ENSP00000445312:R36H;ENSP00000384299:R36H;ENSP00000396228:R36H	ENSP00000334553:R36H	R	+	2	0	PPIL2	20354879	1.000000	0.71417	0.989000	0.46669	0.998000	0.95712	6.159000	0.71856	2.598000	0.87819	0.563000	0.77884	CGT		0.373	PPIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075028.4			81	122	0	0	0	1	0	81	122				
ETNK1	55500	broad.mit.edu	37	12	22778194	22778194	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr12:22778194A>G	ENST00000266517.4	+	1	186	c.97A>G	c.(97-99)Aac>Gac	p.N33D	ETNK1_ENST00000335148.3_Missense_Mutation_p.N33D|RP11-268P4.4_ENST00000542076.1_RNA	NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	33					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCGGATCGGCAACAGTGCCGC	0.711																																					Esophageal Squamous(42;87 913 3224 6226 43339)	ENST00000266517.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(97-99)Aac>Gac		ethanolamine kinase 1							11.0	14.0	13.0					12																	22778194		2190	4284	6474	SO:0001583	missense	55500				phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity	g.chr12:22778194A>G	BC006111	CCDS8698.1, CCDS41760.1	12p12.2	2004-07-09			ENSG00000139163	ENSG00000139163			24649	protein-coding gene	gene with protein product		609858				11912161, 11044454	Standard	XM_005253420		Approved	EKI1, EKI	uc001rft.3	Q9HBU6	OTTHUMG00000169008	ENST00000266517.4:c.97A>G	12.37:g.22778194A>G	ENSP00000266517:p.Asn33Asp					ETNK1_ENST00000335148.3_Missense_Mutation_p.N33D	p.N33D	NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN			1	186	+			33					G5E969	Missense_Mutation	SNP	ENST00000266517.4	37	c.97A>G	CCDS8698.1	.	.	.	.	.	.	.	.	.	.	A	9.385	1.074105	0.20227	.	.	ENSG00000139163	ENST00000266517;ENST00000381409;ENST00000335148;ENST00000541247	T	0.57907	0.37	4.62	-5.01	0.02991	.	3.712380	0.00888	N	0.002208	T	0.25195	0.0612	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.11690	-1.0577	10	0.11485	T	0.65	12.2873	2.9656	0.05907	0.2206:0.4094:0.2587:0.1113	.	33;33;33	E9PD44;Q9HBU6;G5E969	.;EKI1_HUMAN;.	D	33;33;33;11	ENSP00000266517:N33D	ENSP00000266517:N33D	N	+	1	0	ETNK1	22669461	0.000000	0.05858	0.004000	0.12327	0.032000	0.12392	-0.499000	0.06413	-0.810000	0.04375	-1.328000	0.01277	AAC		0.711	ETNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401926.2	NM_018638		5	12	0	0	0	1	0	5	12				
PFKL	5211	broad.mit.edu	37	21	45732145	45732145	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr21:45732145G>A	ENST00000349048.4	+	4	450	c.395G>A	c.(394-396)tGg>tAg	p.W132*	PFKL_ENST00000496824.1_3'UTR|PFKL_ENST00000403390.1_Nonsense_Mutation_p.W179*	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	132	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		CGCAGCGAGTGGGGCAGCCTG	0.662																																						ENST00000403390.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(535-537)tGg>tAg		phosphofructokinase, liver							26.0	22.0	23.0					21																	45732145		2196	4294	6490	SO:0001587	stop_gained	5211				fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding	g.chr21:45732145G>A		CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.395G>A	21.37:g.45732145G>A	ENSP00000269848:p.Trp132*					PFKL_ENST00000496824.1_3'UTR|PFKL_ENST00000349048.4_Nonsense_Mutation_p.W132*	p.W179*			P17858	K6PL_HUMAN		Colorectal(79;0.0811)	5	536	+			132					Q96A64|Q96IH4|Q9BR91	Nonsense_Mutation	SNP	ENST00000349048.4	37	c.536G>A	CCDS33582.1	.	.	.	.	.	.	.	.	.	.	G	35	5.452087	0.96223	.	.	ENSG00000141959	ENST00000349048;ENST00000381188;ENST00000403390	.	.	.	4.17	4.17	0.49024	.	0.065063	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.5809	15.6238	0.76833	0.0:0.0:1.0:0.0	.	.	.	.	X	132;182;179	.	ENSP00000269848:W132X	W	+	2	0	PFKL	44556573	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.543000	0.82106	2.040000	0.60383	0.313000	0.20887	TGG		0.662	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1			5	15	0	0	0	1	0	5	15				
KIAA0408	9729	broad.mit.edu	37	6	127771491	127771491	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr6:127771491G>A	ENST00000483725.3	-	3	478	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W	SOGA3_ENST00000368268.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	48										endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TTTACTTCCCGGCAAAGCTGT	0.338																																						ENST00000483725.3																			0				endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28						c.(142-144)Cgg>Tgg		KIAA0408							38.0	38.0	38.0					6																	127771491		2178	4289	6467	SO:0001583	missense	9729						protein binding	g.chr6:127771491G>A	AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.142C>T	6.37:g.127771491G>A	ENSP00000435150:p.Arg48Trp					SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000368268.2_3'UTR	p.R48W	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN		GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)	3	478	-			48					B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Missense_Mutation	SNP	ENST00000483725.3	37	c.142C>T	CCDS34531.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.168040	0.57476	.	.	ENSG00000189367	ENST00000483725;ENST00000487331	T;T	0.48201	0.82;0.82	5.7	4.83	0.62350	.	0.498329	0.14468	U	0.317773	T	0.18923	0.0454	N	0.22421	0.69	0.25392	N	0.988516	P	0.42078	0.77	B	0.36885	0.235	T	0.07635	-1.0762	10	0.87932	D	0	0.0175	13.4267	0.61030	0.0745:0.0:0.9255:0.0	.	48	Q6ZU52	K0408_HUMAN	W	48;60	ENSP00000435150:R48W;ENSP00000434384:R60W	ENSP00000435150:R48W	R	-	1	2	KIAA0408	127813184	1.000000	0.71417	0.984000	0.44739	0.989000	0.77384	4.808000	0.62583	1.408000	0.46895	0.650000	0.86243	CGG		0.338	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	NM_014702		4	65	0	0	0	1	0	4	65				
PCSK5	5125	broad.mit.edu	37	9	78943064	78943064	+	Silent	SNP	C	C	T			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr9:78943064C>T	ENST00000545128.1	+	32	4936	c.4398C>T	c.(4396-4398)ccC>ccT	p.P1466P		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	1466	CRM (Cys-rich motif).				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						AGGATGCTCCCGGGTGCAAGC	0.582																																						ENST00000545128.1																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(4396-4398)ccC>ccT		proprotein convertase subtilisin/kexin type 5							243.0	218.0	226.0					9																	78943064		876	1991	2867	SO:0001819	synonymous_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78943064C>T		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.4398C>T	9.37:g.78943064C>T							p.P1466P	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN			32	4936	+			633					F5H2G7|Q13527|Q96EP4	Silent	SNP	ENST00000545128.1	37	c.4398C>T	CCDS55320.1																																																																																				0.582	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				61	75	0	0	0	1	0	61	75				
BAGE2	85319	broad.mit.edu	37	21	11098794	11098794	+	RNA	SNP	C	C	T	rs369855713		TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr21:11098794C>T	ENST00000470054.1	-	0	131							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		actccagctgcgctgccatct	0.627																																						ENST00000470054.1																			0													B melanoma antigen family, member 2		C		33,1351		1,31,660	61.0	79.0	73.0				0.0	21		73	0,3182		0,0,1591	no	intergenic				1,31,2251	TT,TC,CC		0.0,2.3844,0.7227			11098794	33,4533	692	1591	2283			85319							g.chr21:11098794C>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11098794C>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	131	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.627	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		8	66	0	0	0	1	0	8	66				
SPATA31E1	286234	broad.mit.edu	37	9	90500708	90500708	+	Missense_Mutation	SNP	C	C	T	rs150988108		TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr9:90500708C>T	ENST00000325643.5	+	4	1372	c.1306C>T	c.(1306-1308)Cgc>Tgc	p.R436C		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	436					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											ACAGCAGAAACGCAGCCAGCT	0.562													.|||	1	0.000199681	0.0	0.0014	5008	,	,		17552	0.0		0.0	False		,,,				2504	0.0					ENST00000325643.5																			0											c.(1306-1308)Cgc>Tgc		SPATA31 subfamily E, member 1		C	CYS/ARG	0,4406		0,0,2203	120.0	112.0	114.0		1306	-1.6	0.0	9	dbSNP_134	114	11,8589	7.7+/-29.5	0,11,4289	yes	missense	C9orf79	NM_178828.4	180	0,11,6492	TT,TC,CC		0.1279,0.0,0.0846	benign	436/1446	90500708	11,12995	2203	4300	6503	SO:0001583	missense	286234							g.chr9:90500708C>T	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.1306C>T	9.37:g.90500708C>T	ENSP00000322640:p.Arg436Cys						p.R436C	NM_178828.4	NP_849150.3					4	1372	+								B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	c.1306C>T	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	c	2.457	-0.324925	0.05350	0.0	0.001279	ENSG00000177992	ENST00000325643;ENST00000539327	T	0.05649	3.41	2.71	-1.59	0.08453	.	0.896444	0.09515	N	0.791791	T	0.01222	0.0040	N	0.00217	-1.83	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.44236	-0.9341	10	0.35671	T	0.21	.	0.4133	0.00444	0.2178:0.1387:0.2236:0.4199	.	436;88	Q6ZUB1;Q8NA33	CI079_HUMAN;.	C	436;88	ENSP00000322640:R436C	ENSP00000322640:R436C	R	+	1	0	C9orf79	89690528	0.235000	0.23794	0.001000	0.08648	0.042000	0.13812	0.253000	0.18296	-0.303000	0.08856	-1.153000	0.01818	CGC		0.562	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		54	64	0	0	0	1	0	54	64				
CHIA	27159	broad.mit.edu	37	1	111861169	111861169	+	Missense_Mutation	SNP	G	G	A	rs367730751		TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr1:111861169G>A	ENST00000369740.1	+	9	887	c.784G>A	c.(784-786)Gtt>Att	p.V262I	CHIA_ENST00000353665.6_Missense_Mutation_p.V101I|CHIA_ENST00000483391.1_Missense_Mutation_p.V101I|CHIA_ENST00000451398.2_Missense_Mutation_p.V101I|CHIA_ENST00000430615.1_Missense_Mutation_p.V154I|RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000343320.6_Missense_Mutation_p.V262I	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	262					apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)	p.V154I(1)|p.V262I(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		GAAGCTCATCGTTGGATTCCC	0.537																																						ENST00000369740.1																			2	Substitution - Missense(2)	p.V154I(1)|p.V262I(1)	lung(2)	central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23						c.(784-786)Gtt>Att		chitinase, acidic		G	ILE/VAL,ILE/VAL	0,4406		0,0,2203	144.0	131.0	135.0		460,784	1.9	1.0	1		135	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CHIA	NM_021797.2,NM_201653.2	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	154/369,262/477	111861169	1,13005	2203	4300	6503	SO:0001583	missense	27159				apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding	g.chr1:111861169G>A	AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.784G>A	1.37:g.111861169G>A	ENSP00000358755:p.Val262Ile					CHIA_ENST00000430615.1_Missense_Mutation_p.V154I|CHIA_ENST00000353665.6_Missense_Mutation_p.V101I|CHIA_ENST00000483391.1_Missense_Mutation_p.V101I|CHIA_ENST00000343320.6_Missense_Mutation_p.V262I|RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000451398.2_Missense_Mutation_p.V101I	p.V262I	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)	9	887	+		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)	262					Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Missense_Mutation	SNP	ENST00000369740.1	37	c.784G>A	CCDS41368.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.259509	0.23051	0.0	1.16E-4	ENSG00000134216	ENST00000422815;ENST00000483391;ENST00000369740;ENST00000343320;ENST00000451398;ENST00000353665;ENST00000489524;ENST00000430615	T;T;T;T;T;T;T;T	0.06068	3.35;3.35;3.35;3.35;3.35;3.35;3.35;3.35	4.84	1.92	0.25849	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.099031	0.38778	U	0.001566	T	0.02156	0.0067	L	0.33189	0.99	0.34985	D	0.75441	B	0.25772	0.134	B	0.34991	0.193	T	0.42189	-0.9466	10	0.30078	T	0.28	-11.3615	8.0908	0.30799	0.2727:0.0:0.7273:0.0	.	262	Q9BZP6	CHIA_HUMAN	I	206;101;262;262;101;101;101;154	ENSP00000387671:V206I;ENSP00000436946:V101I;ENSP00000358755:V262I;ENSP00000341828:V262I;ENSP00000390476:V101I;ENSP00000338970:V101I;ENSP00000433309:V101I;ENSP00000391132:V154I	ENSP00000341828:V262I	V	+	1	0	CHIA	111662692	0.326000	0.24669	0.986000	0.45419	0.455000	0.32408	0.637000	0.24659	0.581000	0.29539	0.563000	0.77884	GTT		0.537	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1			40	53	0	0	0	1	0	40	53				
NOTCH4	4855	broad.mit.edu	37	6	32181593	32181593	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr6:32181593G>T	ENST00000375023.3	-	14	2330	c.2192C>A	c.(2191-2193)aCa>aAa	p.T731K	NOTCH4_ENST00000465528.1_5'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	731	EGF-like 19. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GTGACAAGCTGTCATCTCCTC	0.597																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(2191-2193)aCa>aAa		notch 4							79.0	62.0	68.0					6																	32181593		1511	2708	4219	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32181593G>T		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.2192C>A	6.37:g.32181593G>T	ENSP00000364163:p.Thr731Lys					NOTCH4_ENST00000465528.1_5'UTR	p.T731K	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			14	2330	-			731			EGF-like 19.		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.2192C>A	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.004477	0.54254	.	.	ENSG00000204301	ENST00000375023	T	0.61392	0.11	3.88	3.88	0.44766	Epidermal growth factor-like, type 3 (1);	0.000000	0.43919	D	0.000517	T	0.40791	0.1131	N	0.16656	0.425	0.80722	D	1	D	0.63046	0.992	P	0.56612	0.802	T	0.46289	-0.9202	10	0.54805	T	0.06	.	9.0205	0.36198	0.0:0.0:0.7797:0.2202	.	731	Q99466	NOTC4_HUMAN	K	731	ENSP00000364163:T731K	ENSP00000364163:T731K	T	-	2	0	NOTCH4	32289571	0.833000	0.29383	0.980000	0.43619	0.520000	0.34377	2.171000	0.42453	2.169000	0.68431	0.561000	0.74099	ACA		0.597	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			3	41	1	0	1	1	1	3	41				
ACTBL2	345651	broad.mit.edu	37	5	56777838	56777838	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr5:56777838C>T	ENST00000423391.1	-	1	798	c.697G>A	c.(697-699)Gca>Aca	p.A233T	CTD-2023N9.1_ENST00000506106.1_RNA|AC025470.1_ENST00000584598.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	233						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.A233T(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		GAGGAGGATGCGGCTGCCCTG	0.547																																						ENST00000423391.1																			1	Substitution - Missense(1)	p.A233T(1)	pancreas(1)	breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28						c.(697-699)Gca>Aca		actin, beta-like 2							89.0	77.0	81.0					5																	56777838		2203	4300	6503	SO:0001583	missense	345651					cytoplasm|cytoskeleton	ATP binding	g.chr5:56777838C>T		CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.697G>A	5.37:g.56777838C>T	ENSP00000416706:p.Ala233Thr					CTD-2023N9.1_ENST00000506106.1_RNA	p.A233T	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)	1	798	-		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)	233					B2RPJ1|Q562R2|Q562S9|Q562X8	Missense_Mutation	SNP	ENST00000423391.1	37	c.697G>A	CCDS34163.1	.	.	.	.	.	.	.	.	.	.	C	4.258	0.046847	0.08243	.	.	ENSG00000169067	ENST00000423391	D	0.94793	-3.52	4.91	-0.149	0.13420	.	0.282498	0.29073	N	0.013222	T	0.80491	0.4633	N	0.01705	-0.755	0.36418	D	0.864125	B	0.11235	0.004	B	0.11329	0.006	T	0.70691	-0.4802	10	0.87932	D	0	.	3.4896	0.07633	0.4165:0.3231:0.0:0.2605	.	233	Q562R1	ACTBL_HUMAN	T	233	ENSP00000416706:A233T	ENSP00000416706:A233T	A	-	1	0	ACTBL2	56813595	1.000000	0.71417	0.505000	0.27651	0.222000	0.24845	2.523000	0.45580	0.272000	0.22027	0.655000	0.94253	GCA		0.547	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368579.1	NM_001017992		22	41	0	0	0	1	0	22	41				
NCOA3	8202	broad.mit.edu	37	20	46279833	46279833	+	Silent	SNP	G	G	A			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr20:46279833G>A	ENST00000371998.3	+	20	3950	c.3759G>A	c.(3757-3759)caG>caA	p.Q1253Q	NCOA3_ENST00000372004.3_Silent_p.Q1249Q|NCOA3_ENST00000371997.3_Silent_p.Q1244Q|NCOA3_ENST00000341724.6_Silent_p.Q1179Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcagc	0.547																																						ENST00000372004.3																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3745-3747)caG>caA		nuclear receptor coactivator 3							46.0	53.0	50.0					20																	46279833		2202	4300	6502	SO:0001819	synonymous_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279833G>A	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3759G>A	20.37:g.46279833G>A						NCOA3_ENST00000371997.3_Silent_p.Q1244Q|NCOA3_ENST00000371998.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1179Q	p.Q1249Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			20	3963	+			1253		Missing.	Acetyltransferase.|Poly-Gln.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	c.3747G>A	CCDS13407.1																																																																																				0.547	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		4	92	0	0	0	1	0	4	92				
RPL5	6125	broad.mit.edu	37	1	93300378	93300378	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr1:93300378G>C	ENST00000370321.3	+	4	322	c.232G>C	c.(232-234)Gcg>Ccg	p.A78P	SNORD21_ENST00000383953.1_RNA	NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	78				A -> R (in Ref. 1; AAA85654). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	5S rRNA binding (GO:0008097)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		AGTCTGCGCAGCGTATGCACA	0.458																																						ENST00000370321.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(232-234)Gcg>Ccg		ribosomal protein L5							118.0	119.0	118.0					1																	93300378		2203	4300	6503	SO:0001583	missense	6125				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome	g.chr1:93300378G>C	U14966	CCDS741.1	1p22.1	2014-06-13			ENSG00000122406	ENSG00000122406		"""L ribosomal proteins"""	10360	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 135"""	603634				7937132, 7772601	Standard	NM_000969		Approved	L5, PPP1R135	uc001doz.3	P46777	OTTHUMG00000010899	ENST00000370321.3:c.232G>C	1.37:g.93300378G>C	ENSP00000359345:p.Ala78Pro						p.A78P	NM_000969.3	NP_000960.2	P46777	RL5_HUMAN		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)	4	322	+		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)	78	A -> R (in Ref. 1; AAA85654).				Q32LZ3|Q53HH6|Q9H3F4	Missense_Mutation	SNP	ENST00000370321.3	37	c.232G>C	CCDS741.1	.	.	.	.	.	.	.	.	.	.	G	34	5.356300	0.95854	.	.	ENSG00000122406	ENST00000432788;ENST00000370321;ENST00000315741	D	0.81821	-1.54	5.14	5.14	0.70334	.	0.105692	0.64402	D	0.000005	D	0.94318	0.8174	H	0.99379	4.54	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.96537	0.9397	10	0.59425	D	0.04	.	18.626	0.91338	0.0:0.0:1.0:0.0	.	78	P46777	RL5_HUMAN	P	28;78;28	ENSP00000359345:A78P	ENSP00000359338:A28P	A	+	1	0	RPL5	93072966	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.849000	0.99510	2.398000	0.81561	0.655000	0.94253	GCG		0.458	RPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030058.2	NM_000969		56	81	0	0	0	1	0	56	81				
TRIM17	51127	broad.mit.edu	37	1	228602614	228602614	+	Missense_Mutation	SNP	G	G	A	rs369849895		TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr1:228602614G>A	ENST00000366697.2	-	1	1116	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W	TRIM17_ENST00000295033.3_Missense_Mutation_p.R54W|TRIM17_ENST00000366698.2_Missense_Mutation_p.R54W|TRIM17_ENST00000456946.2_Missense_Mutation_p.R54W			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	54					protein autoubiquitination (GO:0051865)	intracellular (GO:0005622)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				TTCCGCTTCCGCCTCCCCTTC	0.632																																						ENST00000366697.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10						c.(160-162)Cgg>Tgg		tripartite motif containing 17		G	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	42.0	37.0	39.0		160,160,160	-0.3	0.0	1		39	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	TRIM17	NM_001024940.2,NM_001134855.1,NM_016102.3	101,101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	54/478,54/344,54/478	228602614	1,13005	2203	4300	6503	SO:0001583	missense	51127				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:228602614G>A	AF156271	CCDS1571.1, CCDS44327.1	1q42	2013-01-09	2011-01-25	2001-11-30	ENSG00000162931	ENSG00000162931		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13430	protein-coding gene	gene with protein product	"""ring finger protein 16"", ""RING finger protein terf"", ""testis RING finger protein"""	606123	"""tripartite motif-containing 17"""	RNF16		9792805, 10894938	Standard	NM_016102		Approved	terf, RBCC	uc001hsv.3	Q9Y577	OTTHUMG00000039974	ENST00000366697.2:c.160C>T	1.37:g.228602614G>A	ENSP00000355658:p.Arg54Trp					TRIM17_ENST00000295033.3_Missense_Mutation_p.R54W|TRIM17_ENST00000456946.2_Missense_Mutation_p.R54W|TRIM17_ENST00000366698.2_Missense_Mutation_p.R54W	p.R54W			Q9Y577	TRI17_HUMAN			1	1116	-		Prostate(94;0.0724)	54					B4DVJ2|Q5VST8	Missense_Mutation	SNP	ENST00000366697.2	37	c.160C>T	CCDS1571.1	.	.	.	.	.	.	.	.	.	.	G	9.931	1.214834	0.22373	0.0	1.16E-4	ENSG00000162931	ENST00000366697;ENST00000366698;ENST00000295033;ENST00000456946;ENST00000479800;ENST00000355586;ENST00000457345	T;T;T;T;T;T	0.54866	0.55;0.55;0.55;1.18;0.99;2.02	3.5	-0.26	0.12967	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.216229	0.23640	N	0.046022	T	0.61664	0.2365	L	0.49126	1.545	0.09310	N	1	D;D	0.89917	1.0;0.999	D;P	0.72338	0.977;0.875	T	0.56661	-0.7942	10	0.66056	D	0.02	.	11.2665	0.49114	0.0:0.0:0.5994:0.4005	.	54;54	Q9Y577-2;Q9Y577	.;TRI17_HUMAN	W	54;54;54;54;27;54;27	ENSP00000355658:R54W;ENSP00000355659:R54W;ENSP00000295033:R54W;ENSP00000403312:R54W;ENSP00000430468:R27W;ENSP00000347794:R54W	ENSP00000295033:R54W	R	-	1	2	TRIM17	226669237	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.514000	0.22786	-0.049000	0.13379	-0.182000	0.12963	CGG		0.632	TRIM17-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096439.2	NM_016102		13	19	0	0	0	1	0	13	19				
C9orf3	84909	broad.mit.edu	37	9	97844955	97844955	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr9:97844955G>A	ENST00000375315.2	+	15	2418	c.2418G>A	c.(2416-2418)atG>atA	p.M806I	C9orf3_ENST00000433691.2_Missense_Mutation_p.M147I|MIR27B_ENST00000385129.1_RNA|C9orf3_ENST00000425634.2_Missense_Mutation_p.M168I|C9orf3_ENST00000297979.5_Missense_Mutation_p.M707I|MIR23B_ENST00000384832.1_RNA	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	806					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		AGGAGCAGATGGATAGGTCCT	0.527																																						ENST00000375315.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(2416-2418)atG>atA		chromosome 9 open reading frame 3							147.0	122.0	131.0					9																	97844955		2203	4300	6503	SO:0001583	missense	84909				leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr9:97844955G>A	AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.2418G>A	9.37:g.97844955G>A	ENSP00000364464:p.Met806Ile					C9orf3_ENST00000425634.2_Missense_Mutation_p.M168I|C9orf3_ENST00000433691.2_Missense_Mutation_p.M147I|C9orf3_ENST00000297979.5_Missense_Mutation_p.M707I	p.M806I	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.000275)	15	2418	+			806					Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	ENST00000375315.2	37	c.2418G>A	CCDS55328.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.37|17.37	3.372506|3.372506	0.61624|0.61624	.|.	.|.	ENSG00000148120|ENSG00000148120	ENST00000445181|ENST00000297979;ENST00000375315;ENST00000428313;ENST00000425634;ENST00000433691;ENST00000375314	.|T;T;T;T;T	.|0.47528	.|0.84;0.84;0.84;0.84;0.84	5.33|5.33	5.33|5.33	0.75918|0.75918	.|Peptidase M1, leukotriene A4 hydrolase, aminopeptidase C-terminal (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.69477|0.69477	0.3115|0.3115	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	.|B;D;D;P	.|0.63880	.|0.327;0.985;0.993;0.669	.|B;D;D;B	.|0.72338	.|0.134;0.977;0.941;0.348	T|T	0.71771|0.71771	-0.4492|-0.4492	5|10	.|0.72032	.|D	.|0.01	-20.1957|-20.1957	19.3858|19.3858	0.94555|0.94555	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|147;168;806;707	.|B4DU39;B4DQU3;Q8N6M6;Q8N6M6-2	.|.;.;AMPO_HUMAN;.	R|I	171|707;806;588;168;147;170	.|ENSP00000297979:M707I;ENSP00000364464:M806I;ENSP00000401854:M588I;ENSP00000411815:M168I;ENSP00000399365:M147I	.|ENSP00000297979:M707I	G|M	+|+	1|3	0|0	C9orf3|C9orf3	96884776|96884776	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.269000|0.269000	0.26545|0.26545	9.378000|9.378000	0.97191|0.97191	2.659000|2.659000	0.90383|0.90383	0.561000|0.561000	0.74099|0.74099	GGA|ATG		0.527	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032823		24	32	0	0	0	1	0	24	32				
CHRNG	1146	broad.mit.edu	37	2	233409542	233409542	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr2:233409542C>A	ENST00000389494.3	+	11	1331	c.1310C>A	c.(1309-1311)gCc>gAc	p.A437D	CHRNG_ENST00000389492.3_Missense_Mutation_p.A385D	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	437					muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	Galantamine(DB00674)	GCTGCCCCAGCCATCCAGGCC	0.572																																						ENST00000389494.3																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22						c.(1309-1311)gCc>gAc		cholinergic receptor, nicotinic, gamma (muscle)							29.0	32.0	31.0					2																	233409542		2203	4300	6503	SO:0001583	missense	1146				muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity	g.chr2:233409542C>A	X01715	CCDS33400.1	2q37.1	2012-10-02	2012-02-07		ENSG00000196811	ENSG00000196811		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1967	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, gamma (muscle)"""	100730	"""cholinergic receptor, nicotinic, gamma"""	ACHRG			Standard	NM_005199		Approved		uc002vsx.1	P07510	OTTHUMG00000153327	ENST00000389494.3:c.1310C>A	2.37:g.233409542C>A	ENSP00000374145:p.Ala437Asp					CHRNG_ENST00000389492.3_Missense_Mutation_p.A385D	p.A437D	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	11	1331	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	437					B3KWM8|Q14DU4|Q53RG2	Missense_Mutation	SNP	ENST00000389494.3	37	c.1310C>A	CCDS33400.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.219206	0.58560	.	.	ENSG00000196811	ENST00000389494;ENST00000541596;ENST00000389492	D;D	0.86164	-2.08;-2.08	5.02	5.02	0.67125	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.561754	0.18109	N	0.151401	T	0.80127	0.4566	N	0.10945	0.07	0.42246	D	0.991956	P;P	0.51057	0.941;0.629	P;B	0.48425	0.577;0.439	T	0.81536	-0.0888	10	0.49607	T	0.09	.	11.5146	0.50513	0.3051:0.6949:0.0:0.0	.	385;437	Q14DU4;P07510	.;ACHG_HUMAN	D	437;437;385	ENSP00000374145:A437D;ENSP00000374143:A385D	ENSP00000374143:A385D	A	+	2	0	CHRNG	233117786	1.000000	0.71417	0.996000	0.52242	0.809000	0.45718	4.499000	0.60380	2.311000	0.77944	0.462000	0.41574	GCC		0.572	CHRNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330743.1	NM_005199		35	38	1	0	1.45844e-13	1	1.61312e-13	35	38				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		4	46	0	0	0	1	0	4	46				
GON4L	54856	broad.mit.edu	37	1	155721974	155721974	+	Silent	SNP	G	G	T	rs539016195		TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr1:155721974G>T	ENST00000368331.1	-	30	6298	c.6250C>A	c.(6250-6252)Cgg>Agg	p.R2084R	GON4L_ENST00000271883.5_Silent_p.R2083R|GON4L_ENST00000437809.1_Silent_p.R2083R	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	2084					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R2083W(1)		NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GTCTTCACCCGAGCTCTGCTT	0.532																																						ENST00000437809.1																			1	Substitution - Missense(1)	p.R2083W(1)	skin(1)	NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.(6247-6249)Cgg>Agg		gon-4-like (C. elegans)							87.0	85.0	86.0					1																	155721974		1930	4123	6053	SO:0001819	synonymous_variant	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155721974G>T	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.6250C>A	1.37:g.155721974G>T						GON4L_ENST00000271883.5_Silent_p.R2083R|GON4L_ENST00000368331.1_Silent_p.R2084R	p.R2083R			Q3T8J9	GON4L_HUMAN			30	6369	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		2084					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Silent	SNP	ENST00000368331.1	37	c.6247C>A																																																																																					0.532	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		4	123	1	0	3.59834e-05	1	3.75255e-05	4	123				
IGF2BP1	10642	broad.mit.edu	37	17	47120867	47120867	+	Silent	SNP	G	G	A	rs369774252		TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr17:47120867G>A	ENST00000290341.3	+	10	1489	c.1155G>A	c.(1153-1155)ccG>ccA	p.P385P	IGF2BP1_ENST00000431824.2_Silent_p.P246P	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	385	Necessary for interaction with ELAVL4 and binding to TAU mRNA. {ECO:0000250}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CAGTCCCGCCGCCTCCCAGCA	0.572																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)	ENST00000290341.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(1153-1155)ccG>ccA		insulin-like growth factor 2 mRNA binding protein 1		G	,	0,4406		0,0,2203	55.0	51.0	52.0		738,1155	-4.6	0.6	17		52	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	IGF2BP1	NM_001160423.1,NM_006546.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	246/439,385/578	47120867	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10642				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr17:47120867G>A	AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"""RNA binding motif (RRM) containing"""	28866	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 1"""	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.1155G>A	17.37:g.47120867G>A						IGF2BP1_ENST00000431824.2_Silent_p.P246P	p.P385P	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN			10	1489	+			385			Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).		C9JT33	Silent	SNP	ENST00000290341.3	37	c.1155G>A	CCDS11543.1																																																																																				0.572	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546		25	28	0	0	0	1	0	25	28				
PTPN18	26469	broad.mit.edu	37	2	131129929	131129934	+	In_Frame_Del	DEL	GACGGG	GACGGG	-	rs112040677	byFrequency	TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr2:131129929_131129934delGACGGG	ENST00000175756.5	+	13	1214_1219	c.1113_1118delGACGGG	c.(1111-1119)cagacgggg>cag	p.TG378del	PTPN18_ENST00000347849.3_In_Frame_Del_p.TG271del	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	378				Missing (in Ref. 1; CAA56105). {ECO:0000305}.	peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.T378_G379delTG(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					gtgggacgcagacggggacggggacg	0.777														1724	0.344249	0.6324	0.2349	5008	,	,		12983	0.3214		0.2008	False		,,,				2504	0.2035					ENST00000175756.5																			1	Deletion - In frame(1)	p.T378_G379delTG(1)	prostate(1)	endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15						c.(1111-1119)cag>ca		protein tyrosine phosphatase, non-receptor type 18 (brain-derived)			,	1068,966		446,176,395					,	-3.8	0.0		dbSNP_132	3	951,4205		280,391,1907	no	coding,coding	PTPN18	NM_014369.3,NM_001142370.1	,	726,567,2302	A1A1,A1R,RR		18.4445,47.4926,28.0807	,	,		2019,5171				SO:0001651	inframe_deletion	26469					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	g.chr2:131129929_131129934delGACGGG	X79568	CCDS2161.1, CCDS46410.1	2q21	2011-06-09			ENSG00000072135	ENSG00000072135		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9649	protein-coding gene	gene with protein product		606587				8950995	Standard	NM_014369		Approved	BDP1	uc002trc.3	Q99952	OTTHUMG00000131630	ENST00000175756.5:c.1113_1118delGACGGG	2.37:g.131129935_131129940delGACGGG	ENSP00000175756:p.Thr378_Gly379del					PTPN18_ENST00000347849.3_In_Frame_Del_p.QTG264del	p.QTG371del	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN			13	1214_1219	+	Colorectal(110;0.1)		371					B4E1E6|Q53P42	In_Frame_Del	DEL	ENST00000175756.5	37	c.1113_1118delGACGGG	CCDS2161.1																																																																																				0.777	PTPN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254523.2			5	3						5	3	---	---	---	---
PIK3R1	5295	broad.mit.edu	37	5	67591150	67591151	+	Splice_Site	DEL	GA	GA	-			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr5:67591150_67591151delGA	ENST00000521381.1	+	13	2359_2360	c.1743_1744delGA	c.(1741-1746)ttgatg>tttg	p.LM581fs	PIK3R1_ENST00000274335.5_Splice_Site_p.LM581fs|PIK3R1_ENST00000336483.5_Splice_Site_p.LM311fs|PIK3R1_ENST00000523872.1_Splice_Site_p.LM218fs|PIK3R1_ENST00000396611.1_Splice_Site_p.LM581fs|PIK3R1_ENST00000521657.1_Splice_Site_p.LM581fs|PIK3R1_ENST00000320694.8_Splice_Site_p.LM281fs	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	581					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.R577_M582>K(1)|p.Y580fs*1(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	ACCAATACTTGATGTAAGTATT	0.376			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"""Mis, F, O"""	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			"""gliobastoma, ovarian, colorectal"""		4	Whole gene deletion(1)|Complex - deletion inframe(1)|Deletion - Frameshift(1)|Unknown(1)	p.R577_M582>K(1)|p.Y580fs*1(1)|p.0?(1)|p.?(1)	large_intestine(1)|lung(1)|central_nervous_system(1)|endometrium(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.e13+1		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)																																			SO:0001630	splice_region_variant	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67591150_67591151delGA	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1745+1GA>-	5.37:g.67591150_67591151delGA		TCGA GBM(4;<1E-08)				PIK3R1_ENST00000523872.1_Splice_Site_p.LM218_splice|PIK3R1_ENST00000274335.5_Splice_Site_p.LM581_splice|PIK3R1_ENST00000336483.5_Splice_Site_p.LM311_splice|PIK3R1_ENST00000320694.8_Splice_Site_p.LM281_splice|PIK3R1_ENST00000521657.1_Splice_Site_p.LM581_splice|PIK3R1_ENST00000396611.1_Splice_Site_p.LM581_splice	p.LM581_splice	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	13	2359_2360	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	581					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Splice_Site	DEL	ENST00000521381.1	37	c.1745_splice	CCDS3993.1																																																																																				0.376	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504	Frame_Shift_Del	18	48						18	48	---	---	---	---
PIK3R1	5295	broad.mit.edu	37	5	67591153	67591153	+	Splice_Site	DEL	G	G	-			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr5:67591153delG	ENST00000521381.1	+	13	2361		c.e13+1		PIK3R1_ENST00000274335.5_Splice_Site|PIK3R1_ENST00000336483.5_Splice_Site|PIK3R1_ENST00000523872.1_Splice_Site|PIK3R1_ENST00000396611.1_Splice_Site|PIK3R1_ENST00000521657.1_Splice_Site|PIK3R1_ENST00000320694.8_Splice_Site	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)						B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.R577_M582>K(1)|p.Y580fs*1(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	AATACTTGATGTAAGTATTTG	0.373			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"""Mis, F, O"""	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			"""gliobastoma, ovarian, colorectal"""		4	Whole gene deletion(1)|Complex - deletion inframe(1)|Deletion - Frameshift(1)|Unknown(1)	p.R577_M582>K(1)|p.Y580fs*1(1)|p.0?(1)|p.?(1)	large_intestine(1)|lung(1)|central_nervous_system(1)|endometrium(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.e13+1		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)						134.0	134.0	134.0					5																	67591153		2203	4300	6503	SO:0001630	splice_region_variant	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67591153delG	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1745+1G>-	5.37:g.67591153delG		TCGA GBM(4;<1E-08)				PIK3R1_ENST00000523872.1_Splice_Site|PIK3R1_ENST00000274335.5_Splice_Site|PIK3R1_ENST00000336483.5_Splice_Site|PIK3R1_ENST00000320694.8_Splice_Site|PIK3R1_ENST00000521657.1_Splice_Site|PIK3R1_ENST00000396611.1_Splice_Site		NM_181523.2	NP_852664.1	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	13	2361	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)						B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Splice_Site	DEL	ENST00000521381.1	37		CCDS3993.1																																																																																				0.373	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504	Intron	35	28						35	28	---	---	---	---
TRBV29-1	28558	broad.mit.edu	37	7	142448200	142448207	+	RNA	DEL	GGTGGAAA	GGTGGAAA	-	rs56831387|rs112413030|rs76614416	byFrequency	TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr7:142448200_142448207delGGTGGAAA	ENST00000422143.2	+	0	101									T cell receptor beta variable 29-1																		GTTAACACTGGGTGGAAAGGTGGAAAGA	0.457														1983	0.395966	0.3812	0.5187	5008	,	,		21381	0.2222		0.5974	False		,,,				2504	0.3006					ENST00000422143.2																			0																	1374,2160		346,682,739						1.6	0.0		dbSNP_129	48	4141,3571		1278,1585,993	no	intergenic				1624,2267,1732	A1A1,A1R,RR		46.3045,38.8795,49.0397				5515,5731						0							g.chr7:142448200_142448207delGGTGGAAA	L36092		7q34	2012-02-07			ENSG00000232869	ENSG00000232869		"""T cell receptors / TRB locus"""	12210	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV291, TCRBV29S1, TCRBV4S1A1T			OTTHUMG00000158898		7.37:g.142448208_142448215delGGTGGAAA														0	101	+									RNA	DEL	ENST00000422143.2	37																																																																																						0.457	TRBV29-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352510.1	NG_001333		6	12						6	12	---	---	---	---
ZNF618	114991	broad.mit.edu	37	9	116798603	116798603	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr9:116798603delG	ENST00000374126.5	+	13	1291	c.1192delG	c.(1192-1194)gggfs	p.G398fs	ZNF618_ENST00000288466.7_Frame_Shift_Del_p.G305fs|ZNF618_ENST00000470105.1_3'UTR			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	398					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CGGCGCCTGTGGGATCCAGTT	0.587																																						ENST00000288466.7																			0				breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						c.(913-915)ggfs		zinc finger protein 618							57.0	63.0	61.0					9																	116798603		1957	4142	6099	SO:0001589	frameshift_variant	114991				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:116798603delG	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.1192delG	9.37:g.116798603delG	ENSP00000363241:p.Gly398fs					ZNF618_ENST00000374126.5_Frame_Shift_Del_p.G398fs|ZNF618_ENST00000470105.1_3'UTR	p.G305fs	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN			12	1012	+			398					B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Frame_Shift_Del	DEL	ENST00000374126.5	37	c.913delG																																																																																					0.587	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983		2	4						2	4	---	---	---	---
MIR7162	102466227	broad.mit.edu	37	15	62539153	62539154	+	RNA	INS	-	-	GG	rs397702430|rs59880159	byFrequency	TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr15:62539153_62539154insGG	ENST00000570077.1	-	0	362																											TCCACCTCTCTGGCATTCTAAG	0.569														4876	0.973642	0.9047	0.9914	5008	,	,		17811	1.0		1.0	False		,,,				2504	1.0					ENST00000570077.1																			0																																																			0							g.chr15:62539153_62539154insGG																													15.37:g.62539154_62539155dupGG														0	362	-									RNA	INS	ENST00000570077.1	37																																																																																						0.569	hsa-mir-7162.1-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000422143.1			2	4						2	4	---	---	---	---
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)ctafs	p.L454fs	CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(1360-1362)cafs		cell division cycle 27							30.0	30.0	30.0					17																	45219612		2201	4295	6496	SO:0001589	frameshift_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45219612delA	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1361delT	17.37:g.45219612delA	ENSP00000066544:p.Leu454fs					CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs	p.L454fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			11	1454	-			454					G3V1C4|Q16349|Q96F35	Frame_Shift_Del	DEL	ENST00000066544.3	37	c.1361delT	CCDS11509.1																																																																																				0.308	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			7	48						7	48	---	---	---	---
GAGE2D	729408	broad.mit.edu	37	X	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT	rs372553636		TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(25-27)tat>TATtat	p.9_9Y>YY		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1	Q9UEU5	GGE2D_HUMAN	G antigen 2D	9					cellular defense response (GO:0006968)												GAAGATCGACCTATCGGCCTAG	0.465														477	0.126358	0.031	0.098	3775	,	,		26951	0.0972		0.1441	False		,,,				2504	0.1278					ENST00000404720.2																			0											c.(22-27)acatcg>acTATatcg		G antigen 2D				10,505,1500		1,1,3,4,46,330,82,490,187						-1.1	0.0			8	27,1244,2482		1,3,16,6,128,539,446,675,577	no	codingComplex	GAGE2D	NM_001098407.1		2,4,19,10,174,869,528,1165,764	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		33.8662,25.5583,30.9639				37,1749,3982				SO:0001652	inframe_insertion	729408							g.chrX:49208295_49208296insTAT			Xp11.23	2012-10-02			ENSG00000240257				31959	protein-coding gene	gene with protein product		300735					Standard	NM_001098407		Approved	GAGE8		Q9UEU5	OTTHUMG00000067393	ENST00000404720.2:c.25_27dupTAT	X.37:g.49208296_49208298dupTAT	ENSP00000386110:p.Tyr9dup						p.8_9TS>TIS	NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1					2	96_97	+								A6NG46|A6NNR8|B7ZL76|Q4V325	In_Frame_Ins	INS	ENST00000404720.2	37	c.24_25insTAT	CCDS43941.1																																																																																				0.465	GAGE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144212.1	NM_001098407		3	5						3	5	---	---	---	---
