#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
DSCR10	259234	broad.mit.edu	37	21	39580548	39580548	+	lincRNA	SNP	C	C	T			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr21:39580548C>T	ENST00000432141.1	+	0	670					NR_027695.1		P59022	DSC10_HUMAN	Down syndrome critical region gene 10 (non-protein coding)																		TGTGGGTTTGCCATCGAAGGA	0.413																																						ENST00000432141.1																			0																				259.0	253.0	255.0					21																	39580548		2203	4300	6503			0							g.chr21:39580548C>T	AB066291		21q22.13	2012-10-16	2011-02-24		ENSG00000233316	ENSG00000233316		"""Long non-coding RNAs"""	16302	non-coding RNA	RNA, long non-coding			"""Down syndrome critical region gene 10"""			12168953	Standard	NR_027695		Approved		uc010gnt.2	P59022	OTTHUMG00000090611		21.37:g.39580548C>T								NR_027695.1						0	670	+								Q52LN2	RNA	SNP	ENST00000432141.1	37																																																																																						0.413	DSCR10-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000207199.1	NR_027695.1		4	149	0	0	0	1	0	4	149				
DLG2	1740	broad.mit.edu	37	11	84245658	84245658	+	Silent	SNP	T	T	C			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr11:84245658T>C	ENST00000532653.1	-	2	461	c.159A>G	c.(157-159)gaA>gaG	p.E53E	DLG2_ENST00000543673.1_Silent_p.E158E|DLG2_ENST00000398309.2_Silent_p.E53E|DLG2_ENST00000524982.1_Silent_p.E53E|DLG2_ENST00000376104.2_Silent_p.E158E			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0	L27 1. {ECO:0000255|PROSITE- ProRule:PRU00365}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CATGGACATTTTCTATTTGAG	0.418																																						ENST00000398309.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(157-159)gaA>gaG		discs, large homolog 2 (Drosophila)							180.0	170.0	173.0					11																	84245658		1878	4100	5978	SO:0001819	synonymous_variant	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	g.chr11:84245658T>C	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.159A>G	11.37:g.84245658T>C						DLG2_ENST00000376104.2_Silent_p.E158E|DLG2_ENST00000532653.1_Silent_p.E53E|DLG2_ENST00000524982.1_Silent_p.E53E|DLG2_ENST00000543673.1_Silent_p.E158E	p.E53E	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN			2	629	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	53					B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Silent	SNP	ENST00000532653.1	37	c.159A>G																																																																																					0.418	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		4	81	0	0	0	1	0	4	81				
USP24	23358	broad.mit.edu	37	1	55572934	55572934	+	Missense_Mutation	SNP	A	A	C			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr1:55572934A>C	ENST00000294383.6	-	40	4739	c.4740T>G	c.(4738-4740)tgT>tgG	p.C1580W	USP24_ENST00000407756.1_Missense_Mutation_p.C1420W	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1580					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TTTCTGCCCCACAGAGTGAAA	0.453																																						ENST00000294383.6																			0				breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(4738-4740)tgT>tgG		ubiquitin specific peptidase 24							132.0	129.0	130.0					1																	55572934		1972	4153	6125	SO:0001583	missense	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55572934A>C	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.4740T>G	1.37:g.55572934A>C	ENSP00000294383:p.Cys1580Trp					USP24_ENST00000407756.1_Missense_Mutation_p.C1420W	p.C1580W	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN			40	4739	-			1580					Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	c.4740T>G	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	A	18.53	3.643550	0.67244	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.66815	-0.23;-0.23	5.92	2.37	0.29283	.	0.000000	0.85682	D	0.000000	T	0.66684	0.2814	L	0.36672	1.1	0.80722	D	1	D	0.67145	0.996	P	0.58077	0.832	T	0.64795	-0.6323	10	0.62326	D	0.03	.	9.4829	0.38911	0.8008:0.0:0.1992:0.0	.	1420	B7WPF4	.	W	1580;1420	ENSP00000294383:C1580W;ENSP00000385700:C1420W	ENSP00000294383:C1580W	C	-	3	2	USP24	55345522	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.363000	0.44178	0.156000	0.19299	0.533000	0.62120	TGT		0.453	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			5	49	0	0	0	1	0	5	49				
SLC6A6	6533	broad.mit.edu	37	3	14508027	14508027	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr3:14508027G>A	ENST00000454876.2	+	7	1065	c.736G>A	c.(736-738)Gtc>Atc	p.V246I	SLC6A6_ENST00000360861.3_Missense_Mutation_p.V246I			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	246					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						CTTGCAGGTCGTCTACTTCAC	0.602																																						ENST00000454876.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						c.(736-738)Gtc>Atc		solute carrier family 6 (neurotransmitter transporter), member 6							120.0	95.0	103.0					3																	14508027		2203	4300	6503	SO:0001583	missense	6533				cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity	g.chr3:14508027G>A		CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"""Solute carriers"""	11052	protein-coding gene	gene with protein product	"""taurine transporter"""	186854	"""solute carrier family 6 (neurotransmitter transporter, taurine), member 6"""			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.736G>A	3.37:g.14508027G>A	ENSP00000398063:p.Val246Ile					SLC6A6_ENST00000360861.3_Missense_Mutation_p.V246I	p.V246I			P31641	SC6A6_HUMAN			7	1065	+			246					B2RNU7|Q9BRI2|Q9BXB0	Missense_Mutation	SNP	ENST00000454876.2	37	c.736G>A	CCDS33705.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854885	0.71719	.	.	ENSG00000131389	ENST00000454876;ENST00000360861	T;T	0.77489	-1.1;-1.1	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.80613	0.4656	M	0.74881	2.28	0.80722	D	1	P	0.50710	0.938	P	0.44696	0.458	D	0.84993	0.0895	10	0.72032	D	0.01	.	17.6676	0.88207	0.0:0.0:1.0:0.0	.	246	P31641	SC6A6_HUMAN	I	246	ENSP00000398063:V246I;ENSP00000354107:V246I	ENSP00000354107:V246I	V	+	1	0	SLC6A6	14483031	1.000000	0.71417	0.933000	0.37362	0.232000	0.25224	9.862000	0.99564	2.241000	0.73720	0.491000	0.48974	GTC		0.602	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	NM_003043		8	49	0	0	0	1	0	8	49				
TMPRSS15	5651	broad.mit.edu	37	21	19715874	19715874	+	Silent	SNP	T	T	C			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr21:19715874T>C	ENST00000284885.3	-	12	1410	c.1377A>G	c.(1375-1377)ggA>ggG	p.G459G		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	459	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TCCAATTGTCTCCATAATTTC	0.294																																						ENST00000284885.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(1375-1377)ggA>ggG		transmembrane protease, serine 15							91.0	78.0	82.0					21																	19715874		2201	4293	6494	SO:0001819	synonymous_variant	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19715874T>C		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1377A>G	21.37:g.19715874T>C							p.G459G	NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN			12	1410	-			459			MAM.		Q2NKL7	Silent	SNP	ENST00000284885.3	37	c.1377A>G	CCDS13571.1																																																																																				0.294	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		7	91	0	0	0	1	0	7	91				
MX2	4600	broad.mit.edu	37	21	42748856	42748856	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr21:42748856G>A	ENST00000330714.3	+	2	207	c.23G>A	c.(22-24)tGg>tAg	p.W8*	MX2_ENST00000543692.1_Nonsense_Mutation_p.W8*	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	8					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				CACAAGCCTTGGCCCTACCGG	0.512																																						ENST00000330714.3																			0				breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34						c.(22-24)tGg>tAg		myxovirus (influenza virus) resistance 2 (mouse)							67.0	70.0	69.0					21																	42748856		2203	4300	6503	SO:0001587	stop_gained	4600				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	g.chr21:42748856G>A		CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"""interferon-regulated resistance GTP-binding protein MXB"", ""second interferon-induced protein p78"""	147890	"""myxovirus (influenza) resistance 2, homolog of murine"", ""myxovirus (influenza virus) resistance 2 (mouse)"""			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.23G>A	21.37:g.42748856G>A	ENSP00000333657:p.Trp8*					MX2_ENST00000543692.1_Nonsense_Mutation_p.W8*	p.W8*	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN			2	207	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)	8					B7Z5D3|D3DSI7	Nonsense_Mutation	SNP	ENST00000330714.3	37	c.23G>A	CCDS13672.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.498905	0.26861	.	.	ENSG00000183486	ENST00000330714;ENST00000436410;ENST00000435611;ENST00000543692;ENST00000416447;ENST00000418103	.	.	.	2.25	-0.919	0.10478	.	3.168470	0.01204	N	0.007669	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.9839	0.05962	0.1552:0.0:0.3708:0.474	.	.	.	.	X	8	.	ENSP00000333657:W8X	W	+	2	0	MX2	41670726	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.434000	0.06939	-0.239000	0.09710	0.313000	0.20887	TGG		0.512	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463		4	51	0	0	0	1	0	4	51				
RBM34	23029	broad.mit.edu	37	1	235295210	235295210	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr1:235295210G>T	ENST00000408888.3	-	11	1341	c.1111C>A	c.(1111-1113)Caa>Aaa	p.Q371K	TOMM20_ENST00000366607.4_5'Flank|RBM34_ENST00000366606.3_Missense_Mutation_p.Q366K|RBM34_ENST00000495224.1_5'UTR			P42696	RBM34_HUMAN	RNA binding motif protein 34	371						nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			TTTGAATTTTGTTGTTTAAAT	0.328																																						ENST00000408888.3																			0				central_nervous_system(1)	1						c.(1111-1113)Caa>Aaa		RNA binding motif protein 34							88.0	81.0	83.0					1																	235295210		1809	4070	5879	SO:0001583	missense	23029					nucleolus	nucleotide binding|RNA binding	g.chr1:235295210G>T		CCDS41477.1, CCDS41477.2	1q42.3	2013-02-12			ENSG00000188739	ENSG00000188739		"""RNA binding motif (RRM) containing"""	28965	protein-coding gene	gene with protein product						7788527, 15134903	Standard	NM_015014		Approved	KIAA0117	uc001hwn.3	P42696	OTTHUMG00000039620	ENST00000408888.3:c.1111C>A	1.37:g.235295210G>T	ENSP00000386226:p.Gln371Lys					RBM34_ENST00000366606.3_Missense_Mutation_p.Q366K|RBM34_ENST00000495224.1_5'UTR	p.Q371K			P42696	RBM34_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)		11	1341	-	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	371					A8K8J7|Q8N2Z8|Q9H5A1	Missense_Mutation	SNP	ENST00000408888.3	37	c.1111C>A	CCDS41477.2	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.102239	0.00360	.	.	ENSG00000188739	ENST00000408888;ENST00000366606;ENST00000447801	T;T;T	0.74209	2.52;-0.82;2.67	3.1	2.12	0.27331	.	0.795718	0.10960	N	0.615084	T	0.66086	0.2754	M	0.68317	2.08	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.51529	-0.8694	10	0.05959	T	0.93	-8.5012	8.5115	0.33220	0.0:0.0:0.405:0.595	.	371	P42696	RBM34_HUMAN	K	371;366;349	ENSP00000386226:Q371K;ENSP00000355565:Q366K;ENSP00000400000:Q349K	ENSP00000355565:Q366K	Q	-	1	0	RBM34	233361833	0.220000	0.23631	0.794000	0.32065	0.578000	0.36192	0.358000	0.20216	0.409000	0.25649	0.514000	0.50259	CAA		0.328	RBM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100146.1	NM_015014		7	55	1	0	0.00448238	1	0.00458425	7	55				
RALGAPB	57148	broad.mit.edu	37	20	37153536	37153536	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr20:37153536G>A	ENST00000262879.6	+	11	2019	c.1735G>A	c.(1735-1737)Gat>Aat	p.D579N	RALGAPB_ENST00000397040.1_Missense_Mutation_p.D579N|RALGAPB_ENST00000397042.3_Missense_Mutation_p.D579N|RALGAPB_ENST00000397038.1_Missense_Mutation_p.D357N			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	579					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GAAAGGGATTGATGTTGTGGT	0.403																																						ENST00000262879.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(1735-1737)Gat>Aat		Ral GTPase activating protein, beta subunit (non-catalytic)							304.0	279.0	288.0					20																	37153536		2203	4300	6503	SO:0001583	missense	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37153536G>A	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1735G>A	20.37:g.37153536G>A	ENSP00000262879:p.Asp579Asn					RALGAPB_ENST00000397040.1_Missense_Mutation_p.D579N|RALGAPB_ENST00000397038.1_Missense_Mutation_p.D357N|RALGAPB_ENST00000397042.3_Missense_Mutation_p.D579N	p.D579N			Q86X10	RLGPB_HUMAN			11	2019	+			579					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	c.1735G>A	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	G	9.999	1.233048	0.22626	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000397040;ENST00000438490	T;T	0.65732	-0.17;-0.17	5.51	5.51	0.81932	.	0.047212	0.85682	D	0.000000	T	0.31765	0.0807	N	0.01352	-0.895	0.50171	D	0.99985	B;B;B;B	0.06786	0.0;0.001;0.001;0.001	B;B;B;B	0.08055	0.002;0.003;0.003;0.003	T	0.30909	-0.9962	10	0.16896	T	0.51	.	12.7286	0.57185	0.0753:0.0:0.9247:0.0	.	407;579;579;579	A2A2F0;Q86X10-4;A2A2E9;Q86X10	.;.;.;RLGPB_HUMAN	N	579;579;579;357;579;407	ENSP00000262879:D579N;ENSP00000380233:D579N	ENSP00000262879:D579N	D	+	1	0	RALGAPB	36586950	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.457000	0.66672	2.587000	0.87381	0.561000	0.74099	GAT		0.403	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		24	130	0	0	0	1	0	24	130				
CROCCP2	84809	broad.mit.edu	37	1	16945452	16945452	+	lincRNA	SNP	C	C	T	rs11260834	byFrequency	TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr1:16945452C>T	ENST00000412962.1	-	0	2067				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CTCCCTACGACGGCAGGCCTA	0.647																																						ENST00000412962.1																			0																																																			0							g.chr1:16945452C>T	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16945452C>T														0	2067	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.647	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		4	64	0	0	0	1	0	4	64				
FBP1	2203	broad.mit.edu	37	9	97365824	97365824	+	Missense_Mutation	SNP	C	C	G			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr9:97365824C>G	ENST00000375326.4	-	7	1052	c.856G>C	c.(856-858)Gcc>Ccc	p.A286P	FBP1_ENST00000415431.1_Missense_Mutation_p.A286P	NM_000507.3	NP_000498.2	P09467	F16P1_HUMAN	fructose-1,6-bisphosphatase 1	286					carbohydrate metabolic process (GO:0005975)|cellular response to drug (GO:0035690)|cellular response to magnesium ion (GO:0071286)|dephosphorylation (GO:0016311)|fructose 6-phosphate metabolic process (GO:0006002)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|negative regulation of cell growth (GO:0030308)|negative regulation of glycolytic process (GO:0045820)|negative regulation of Ras protein signal transduction (GO:0046580)|protein homotetramerization (GO:0051289)|regulation of gluconeogenesis (GO:0006111)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	AMP binding (GO:0016208)|fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|monosaccharide binding (GO:0048029)			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	ATGACGTAGGCCATGGGGTTG	0.537											OREG0019330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Ovarian(142;590 2466 25593 44496)	ENST00000415431.1																			0				kidney(1)|liver(1)|lung(1)	3						c.(856-858)Gcc>Ccc		fructose-1,6-bisphosphatase 1	Adenosine monophosphate(DB00131)						82.0	81.0	81.0					9																	97365824		2203	4300	6503	SO:0001583	missense	2203				gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding	g.chr9:97365824C>G	M19922	CCDS6712.1	9q22.3	2012-08-13			ENSG00000165140	ENSG00000165140	3.1.3.11		3606	protein-coding gene	gene with protein product		611570		FBP		8387495	Standard	NM_000507		Approved		uc004auw.4	P09467	OTTHUMG00000020268	ENST00000375326.4:c.856G>C	9.37:g.97365824C>G	ENSP00000364475:p.Ala286Pro		OREG0019330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1327	FBP1_ENST00000375326.4_Missense_Mutation_p.A286P	p.A286P	NM_001127628.1	NP_001121100.1	P09467	F16P1_HUMAN			8	1085	-		Acute lymphoblastic leukemia(62;0.136)	286					O75571|Q53F94|Q96E46	Missense_Mutation	SNP	ENST00000375326.4	37	c.856G>C	CCDS6712.1	.	.	.	.	.	.	.	.	.	.	C	35	5.424825	0.96111	.	.	ENSG00000165140	ENST00000375326;ENST00000415431	D;D	0.81499	-1.5;-1.5	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.94430	0.8208	H	0.98951	4.38	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.96312	0.9229	10	0.87932	D	0	-34.643	19.3331	0.94299	0.0:1.0:0.0:0.0	.	286	P09467	F16P1_HUMAN	P	286	ENSP00000364475:A286P;ENSP00000408025:A286P	ENSP00000364475:A286P	A	-	1	0	FBP1	96405645	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.607000	0.82883	2.802000	0.96397	0.655000	0.94253	GCC		0.537	FBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053187.1	NM_000507		3	28	0	0	0	1	0	3	28				
PPP4C	5531	broad.mit.edu	37	16	30093814	30093814	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr16:30093814G>A	ENST00000279387.7	+	4	328	c.160G>A	c.(160-162)Gac>Aac	p.D54N	PPP4C_ENST00000561610.1_Missense_Mutation_p.D54N	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	54					dephosphorylation (GO:0016311)|NIK/NF-kappaB signaling (GO:0038061)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein phosphatase 4 complex (GO:0030289)	metal ion binding (GO:0046872)|NF-kappaB-inducing kinase activity (GO:0004704)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						GGTGTGCGGCGACATCCATGG	0.522																																						ENST00000279387.7																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						c.(160-162)Gac>Aac		protein phosphatase 4, catalytic subunit							104.0	89.0	94.0					16																	30093814		2197	4300	6497	SO:0001583	missense	5531				microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity	g.chr16:30093814G>A		CCDS10669.1	16p11.2	2010-03-17	2010-03-05		ENSG00000149923	ENSG00000149923	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9319	protein-coding gene	gene with protein product	"""protein phosphatase X, catalytic subunit"""	602035	"""protein phosphatase 4 (formerly X), catalytic subunit"""			9177794	Standard	NM_002720		Approved	PP4, PPX	uc002dwf.3	P60510	OTTHUMG00000132113	ENST00000279387.7:c.160G>A	16.37:g.30093814G>A	ENSP00000279387:p.Asp54Asn					PPP4C_ENST00000561610.1_Missense_Mutation_p.D54N	p.D54N	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN			4	328	+			54					P33172	Missense_Mutation	SNP	ENST00000279387.7	37	c.160G>A	CCDS10669.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.450968	0.63290	.	.	ENSG00000149923	ENST00000279387	D	0.99842	-7.1	5.88	4.93	0.64822	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.99837	0.9926	H	0.97783	4.075	0.80722	D	1	D	0.55385	0.971	P	0.51657	0.676	D	0.96754	0.9556	10	0.66056	D	0.02	-1.226	15.362	0.74483	0.0:0.0:0.8591:0.1409	.	54	P60510	PP4C_HUMAN	N	54	ENSP00000279387:D54N	ENSP00000279387:D54N	D	+	1	0	PPP4C	30001315	1.000000	0.71417	0.849000	0.33467	0.366000	0.29705	9.363000	0.97131	1.489000	0.48450	0.561000	0.74099	GAC		0.522	PPP4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255155.2	NM_002720		6	62	0	0	0	1	0	6	62				
KCNT1	57582	broad.mit.edu	37	9	138641963	138641963	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr9:138641963G>A	ENST00000263604.3	+	3	217	c.217G>A	c.(217-219)Gtc>Atc	p.V73I	KCNT1_ENST00000487664.1_Missense_Mutation_p.V44I|KCNT1_ENST00000298480.5_Missense_Mutation_p.V92I|KCNT1_ENST00000488444.2_Missense_Mutation_p.V73I|KCNT1_ENST00000371757.2_Missense_Mutation_p.V92I|KCNT1_ENST00000490355.2_Missense_Mutation_p.V73I|KCNT1_ENST00000491806.2_Missense_Mutation_p.V59I|KCNT1_ENST00000486577.2_Missense_Mutation_p.V53I			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	73					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GGAGTTCTACGTCAACGAGAA	0.607																																						ENST00000298480.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(274-276)Gtc>Atc		potassium channel, subfamily T, member 1							82.0	68.0	73.0					9																	138641963		2203	4300	6503	SO:0001583	missense	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138641963G>A	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.217G>A	9.37:g.138641963G>A	ENSP00000263604:p.Val73Ile					KCNT1_ENST00000490355.2_Missense_Mutation_p.V73I|KCNT1_ENST00000486577.2_Missense_Mutation_p.V53I|KCNT1_ENST00000487664.1_Missense_Mutation_p.V44I|KCNT1_ENST00000263604.3_Missense_Mutation_p.V73I|KCNT1_ENST00000488444.2_Missense_Mutation_p.V73I|KCNT1_ENST00000371757.2_Missense_Mutation_p.V92I|KCNT1_ENST00000491806.2_Missense_Mutation_p.V59I	p.V92I			B7ZVY4	B7ZVY4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	3	348	+		Myeloproliferative disorder(178;0.0821)	92					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37	c.274G>A		.	.	.	.	.	.	.	.	.	.	g	22.2	4.255822	0.80135	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000473941;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T;T	0.50548	1.75;1.66;1.66;0.74;1.72	4.18	4.18	0.49190	.	0.000000	0.64402	D	0.000002	T	0.59622	0.2207	M	0.72353	2.195	0.80722	D	1	D;D	0.58268	0.97;0.982	P;P	0.53006	0.522;0.715	T	0.66630	-0.5875	10	0.59425	D	0.04	-9.5267	15.8483	0.78907	0.0:0.0:1.0:0.0	.	92;44	B9EGP2;G5E9V0	.;.	I	44;92;92;39;53;59;73;73;73	ENSP00000417851:V44I;ENSP00000298480:V92I;ENSP00000360822:V92I;ENSP00000420764:V39I;ENSP00000263604:V73I	ENSP00000263604:V73I	V	+	1	0	KCNT1	137781784	1.000000	0.71417	0.951000	0.38953	0.904000	0.53231	9.449000	0.97603	2.053000	0.61076	0.561000	0.74099	GTC		0.607	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		4	45	0	0	0	1	0	4	45				
VPS18	57617	broad.mit.edu	37	15	41192034	41192034	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr15:41192034G>A	ENST00000220509.5	+	4	1357	c.1018G>A	c.(1018-1020)Gca>Aca	p.A340T	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	340					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GCTGCTACTGGCAGACCGGGT	0.632																																						ENST00000220509.5																			0				autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28						c.(1018-1020)Gca>Aca		vacuolar protein sorting 18 homolog (S. cerevisiae)							60.0	62.0	61.0					15																	41192034		2203	4300	6503	SO:0001583	missense	57617				endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding	g.chr15:41192034G>A	AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"""vacuolar protein sorting protein 18"""			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.1018G>A	15.37:g.41192034G>A	ENSP00000220509:p.Ala340Thr					VPS18_ENST00000558474.1_Intron	p.A340T	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	4	1357	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	340					Q8TCG0|Q96DI3|Q9H268	Missense_Mutation	SNP	ENST00000220509.5	37	c.1018G>A	CCDS10069.1	.	.	.	.	.	.	.	.	.	.	G	8.649	0.897878	0.17686	.	.	ENSG00000104142	ENST00000220509	T	0.43688	0.94	5.44	5.44	0.79542	Pep3/Vps18/deep orange (1);	0.271361	0.41500	D	0.000875	T	0.23249	0.0562	N	0.14661	0.345	0.80722	D	1	B	0.28258	0.205	B	0.25759	0.063	T	0.10823	-1.0613	10	0.14656	T	0.56	-14.0557	10.3582	0.43977	0.0:0.2876:0.5879:0.1244	.	340	Q9P253	VPS18_HUMAN	T	340	ENSP00000220509:A340T	ENSP00000220509:A340T	A	+	1	0	VPS18	38979326	1.000000	0.71417	0.991000	0.47740	0.947000	0.59692	3.291000	0.51764	2.702000	0.92279	0.655000	0.94253	GCA		0.632	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2			4	63	0	0	0	1	0	4	63				
CCP110	9738	broad.mit.edu	37	16	19547945	19547945	+	Silent	SNP	T	T	G			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr16:19547945T>G	ENST00000381396.5	+	4	1201	c.954T>G	c.(952-954)gcT>gcG	p.A318A	CCP110_ENST00000396208.2_Silent_p.A318A|CCP110_ENST00000396212.2_Silent_p.A318A	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	318					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cytokinesis (GO:0032465)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						CAGTTTTAGCTAGCTTTTCGA	0.393																																						ENST00000396212.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						c.(952-954)gcT>gcG		centriolar coiled coil protein 110kDa							63.0	60.0	61.0					16																	19547945		2197	4300	6497	SO:0001819	synonymous_variant	9738				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding	g.chr16:19547945T>G	AB007879	CCDS10579.1, CCDS55992.1	16p12.3	2014-02-20	2011-05-27		ENSG00000103540	ENSG00000103540			24342	protein-coding gene	gene with protein product		609544				9455477, 12361598, 16760425	Standard	NM_014711		Approved	KIAA0419, CP110	uc002dgl.4	O43303	OTTHUMG00000131459	ENST00000381396.5:c.954T>G	16.37:g.19547945T>G						CCP110_ENST00000396208.2_Silent_p.A318A|CCP110_ENST00000381396.5_Silent_p.A318A	p.A318A	NM_014711.4	NP_055526.3	O43303	CP110_HUMAN			5	1390	+			318					B7WP23|O43335|Q68DV9|Q8NE13	Silent	SNP	ENST00000381396.5	37	c.954T>G	CCDS55992.1																																																																																				0.393	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254284.2	NM_014711		5	70	0	0	0	1	0	5	70				
PNLIP	5406	broad.mit.edu	37	10	118315007	118315007	+	Missense_Mutation	SNP	G	G	A	rs62623373		TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr10:118315007G>A	ENST00000369221.2	+	8	827	c.799G>A	c.(799-801)Gga>Aga	p.G267R		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	267					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	GGACATAGACGGAATCTGGGA	0.398																																						ENST00000369221.2																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43						c.(799-801)Gga>Aga		pancreatic lipase	Bentiromide(DB00522)|Orlistat(DB01083)						150.0	154.0	153.0					10																	118315007		2203	4300	6503	SO:0001583	missense	5406				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	g.chr10:118315007G>A	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.799G>A	10.37:g.118315007G>A	ENSP00000358223:p.Gly267Arg						p.G267R	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN		all cancers(201;0.0131)	8	827	+			267					Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	37	c.799G>A	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.633522	0.29068	.	.	ENSG00000175535	ENST00000369221	D	0.90900	-2.75	6.16	5.26	0.73747	Lipase, N-terminal (1);	0.000000	0.64402	D	0.000001	D	0.90923	0.7147	M	0.84846	2.72	0.58432	D	0.999992	P	0.44946	0.846	B	0.38562	0.276	D	0.91652	0.5335	10	0.62326	D	0.03	.	14.4868	0.67622	0.0709:0.0:0.9291:0.0	rs62623373	267	P16233	LIPP_HUMAN	R	267	ENSP00000358223:G267R	ENSP00000358223:G267R	G	+	1	0	PNLIP	118304997	1.000000	0.71417	0.176000	0.23000	0.413000	0.31143	4.838000	0.62803	1.628000	0.50416	0.650000	0.86243	GGA		0.398	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936		7	118	0	0	0	1	0	7	118				
USP9X	8239	broad.mit.edu	37	X	40988337	40988337	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chrX:40988337G>T	ENST00000324545.8	+	3	814	c.181G>T	c.(181-183)Gaa>Taa	p.E61*	USP9X_ENST00000378308.2_Nonsense_Mutation_p.E61*	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	61					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ACCACAGCTTGAAGATGAGGA	0.458																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(181-183)Gaa>Taa		ubiquitin specific peptidase 9, X-linked							106.0	97.0	100.0					X																	40988337		2203	4300	6503	SO:0001587	stop_gained	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:40988337G>T	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.181G>T	X.37:g.40988337G>T	ENSP00000316357:p.Glu61*					USP9X_ENST00000378308.2_Nonsense_Mutation_p.E61*	p.E61*	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			3	814	+			61					O75550|Q8WWT3|Q8WX12	Nonsense_Mutation	SNP	ENST00000324545.8	37	c.181G>T	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	G	38	6.730175	0.97796	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.195	0.89818	0.0:0.0:1.0:0.0	.	.	.	.	X	61	.	ENSP00000316357:E61X	E	+	1	0	USP9X	40873281	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.444000	0.97578	2.234000	0.73211	0.600000	0.82982	GAA		0.458	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		6	27	1	0	8.12818e-05	1	8.50624e-05	6	27				
VSTM2A	222008	broad.mit.edu	37	7	54617693	54617693	+	Missense_Mutation	SNP	G	G	A	rs376525790		TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr7:54617693G>A	ENST00000407838.3	+	4	870	c.464G>A	c.(463-465)cGc>cAc	p.R155H	VSTM2A_ENST00000404951.1_Missense_Mutation_p.R155H|VSTM2A_ENST00000302287.3_Missense_Mutation_p.R155H|VSTM2A_ENST00000402613.3_Missense_Mutation_p.R155H|VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000402026.2_Missense_Mutation_p.R154H	NM_182546.2	NP_872352.2	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	155						extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			AGCCATGCCCGCAGAATGCAG	0.582																																						ENST00000302287.3																			0				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16						c.(463-465)cGc>cAc		V-set and transmembrane domain containing 2A		G	HIS/ARG	0,4406		0,0,2203	56.0	54.0	55.0		464	5.1	0.9	7		55	1,8597	1.2+/-3.3	0,1,4298	no	missense	VSTM2A	NM_182546.2	29	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	155/237	54617693	1,13003	2203	4299	6502	SO:0001583	missense	222008					extracellular region		g.chr7:54617693G>A	BC028404	CCDS5512.2, CCDS75604.1	7p11.2	2013-01-11	2007-08-10	2007-08-10	ENSG00000170419	ENSG00000170419		"""Immunoglobulin superfamily / V-set domain containing"""	28499	protein-coding gene	gene with protein product			"""V-set and transmembrane domain containing 2"""	VSTM2		12477932	Standard	XM_006715663		Approved	MGC33530	uc010kzf.3	Q8TAG5	OTTHUMG00000129271	ENST00000407838.3:c.464G>A	7.37:g.54617693G>A	ENSP00000384967:p.Arg155His					VSTM2A_ENST00000402613.3_Missense_Mutation_p.R155H|VSTM2A_ENST00000407838.3_Missense_Mutation_p.R155H|VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000404951.1_Missense_Mutation_p.R155H|VSTM2A_ENST00000402026.2_Missense_Mutation_p.R154H	p.R155H			Q8TAG5	VTM2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.0525)		4	870	+			155					A4D2E9|B5MC94	Missense_Mutation	SNP	ENST00000407838.3	37	c.464G>A	CCDS5512.2	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333205	0.81801	0.0	1.16E-4	ENSG00000170419	ENST00000302287;ENST00000407838;ENST00000404951;ENST00000402026;ENST00000402613	T;T;T;T;T	0.49432	0.78;0.81;0.78;0.78;0.81	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.64571	0.2610	M	0.68952	2.095	0.42271	D	0.992052	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.991	T	0.64778	-0.6327	10	0.45353	T	0.12	-25.8697	12.0823	0.53677	0.0:0.1737:0.8263:0.0	.	155;155;155	Q8TAG5;Q8TAG5-2;B5MCX6	VTM2A_HUMAN;.;.	H	155;155;155;154;155	ENSP00000303108:R155H;ENSP00000384967:R155H;ENSP00000384701:R155H;ENSP00000385933:R154H;ENSP00000384103:R155H	ENSP00000303108:R155H	R	+	2	0	VSTM2A	54585187	0.722000	0.28017	0.877000	0.34402	0.985000	0.73830	4.215000	0.58534	2.501000	0.84356	0.655000	0.94253	CGC		0.582	VSTM2A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318694.1	NM_182546		5	15	0	0	0	1	0	5	15				
ZNF841	284371	broad.mit.edu	37	19	52569155	52569155	+	Silent	SNP	T	T	C			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr19:52569155T>C	ENST00000426391.2	-	5	2183	c.1632A>G	c.(1630-1632)aaA>aaG	p.K544K	CTC-471J1.2_ENST00000569091.1_RNA|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000594295.1_Silent_p.K660K|ZNF841_ENST00000389534.4_Silent_p.K660K|ZNF841_ENST00000359973.2_Intron			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	544					regulation of transcription, DNA-templated (GO:0006355)|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)			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						GAGTATAGGCTTTGCCACAAT	0.413																																						ENST00000389534.4																			0				breast(1)|endometrium(4)|kidney(3)|lung(3)	11						c.(1978-1980)aaA>aaG		zinc finger protein 841							115.0	106.0	108.0					19																	52569155		692	1591	2283	SO:0001819	synonymous_variant	284371				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52569155T>C	AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"""Zinc fingers, C2H2-type"", ""-"""	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.1632A>G	19.37:g.52569155T>C						ZNF841_ENST00000594295.1_Silent_p.K660K|ZNF841_ENST00000359973.2_Intron|ZNF841_ENST00000426391.2_Silent_p.K544K|ZNF432_ENST00000598446.1_Intron	p.K660K	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN			7	2439	-			544					B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Silent	SNP	ENST00000426391.2	37	c.1980A>G																																																																																					0.413	ZNF841-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000462435.1	XM_209155		12	66	0	0	0	1	0	12	66				
TRAPPC12	51112	broad.mit.edu	37	2	3391659	3391659	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr2:3391659C>T	ENST00000324266.5	+	2	460	c.265C>T	c.(265-267)Cgg>Tgg	p.R89W	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.R89W	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	89					vesicle-mediated transport (GO:0016192)												GGGCCGAGTGCGGGACGAAGC	0.711																																						ENST00000324266.5																			0											c.(265-267)Cgg>Tgg		trafficking protein particle complex 12							21.0	19.0	20.0					2																	3391659		2197	4290	6487	SO:0001583	missense	51112						binding	g.chr2:3391659C>T	BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"""Trafficking protein particle complex"", ""Tetratricopeptide (TTC) repeat domain containing"""	24284	protein-coding gene	gene with protein product		614139	"""tetratricopeptide repeat domain 15"""	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.265C>T	2.37:g.3391659C>T	ENSP00000324318:p.Arg89Trp					TRAPPC12_ENST00000382110.2_Missense_Mutation_p.R89W	p.R89W	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN			2	460	+			89					B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Missense_Mutation	SNP	ENST00000324266.5	37	c.265C>T	CCDS1652.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.828161	0.32329	.	.	ENSG00000171853	ENST00000382110;ENST00000304601;ENST00000324266	T;T	0.56275	0.47;0.47	5.21	5.21	0.72293	.	0.500306	0.21370	N	0.075645	T	0.55545	0.1927	N	0.22421	0.69	0.23758	N	0.99692	D;D;D	0.76494	0.997;0.996;0.999	B;B;P	0.57776	0.424;0.424;0.827	T	0.53443	-0.8438	10	0.72032	D	0.01	.	16.057	0.80814	0.0:1.0:0.0:0.0	.	72;89;89	E7ENL7;Q8WVT3;Q53S18	.;TPC12_HUMAN;.	W	89;72;89	ENSP00000371544:R89W;ENSP00000324318:R89W	ENSP00000303612:R72W	R	+	1	2	TTC15	3370666	1.000000	0.71417	0.989000	0.46669	0.009000	0.06853	3.149000	0.50655	2.697000	0.92050	0.563000	0.77884	CGG		0.711	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2	NM_016030		2	2	0	0	0	1	0	2	2				
MUC16	94025	broad.mit.edu	37	19	9057373	9057373	+	Silent	SNP	A	A	G			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr19:9057373A>G	ENST00000397910.4	-	3	30276	c.30073T>C	c.(30073-30075)Ttg>Ctg	p.L10025L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10027	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTAAGGACAACAGAGAAGAT	0.448																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(30073-30075)Ttg>Ctg		mucin 16, cell surface associated							69.0	66.0	67.0					19																	9057373		1977	4151	6128	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9057373A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.30073T>C	19.37:g.9057373A>G							p.L10025L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	30276	-			10027			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.30073T>C	CCDS54212.1																																																																																				0.448	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		9	30	0	0	0	1	0	9	30				
PDE4DIP	9659	broad.mit.edu	37	1	144930870	144930870	+	Intron	SNP	G	G	A			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr1:144930870G>A	ENST00000369354.3	-	6	826				PDE4DIP_ENST00000529945.1_Missense_Mutation_p.P280L|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.P280L|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369356.4_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCCATGCTGCGGAGCCTGATC	0.498			T	PDGFRB	MPD																																	ENST00000529945.1				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(838-840)cCg>cTg		phosphodiesterase 4D interacting protein							154.0	150.0	151.0					1																	144930870		2203	4300	6503	SO:0001627	intron_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144930870G>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.637-7049C>T	1.37:g.144930870G>A						PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.P280L|PDE4DIP_ENST00000530740.1_Intron	p.P280L			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	1	1278	-			0					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.839C>T	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.542558	0.45280	.	.	ENSG00000178104	ENST00000369353;ENST00000313431;ENST00000529945	T;T	0.11385	2.78;2.78	5.49	4.56	0.56223	.	.	.	.	.	T	0.02304	0.0071	N	0.11427	0.14	0.80722	D	1	P	0.35774	0.519	B	0.20767	0.031	T	0.43814	-0.9368	9	0.72032	D	0.01	.	12.6128	0.56560	0.0831:0.0:0.9169:0.0	.	280	Q5VU43-2	.	L	280	ENSP00000316434:P280L;ENSP00000433392:P280L	ENSP00000316434:P280L	P	-	2	0	PDE4DIP	143642227	0.784000	0.28713	0.994000	0.49952	0.192000	0.23643	3.146000	0.50631	2.594000	0.87642	0.586000	0.80456	CCG		0.498	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		7	135	0	0	0	1	0	7	135				
DCDC1	341019	broad.mit.edu	37	11	30902775	30902775	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr11:30902775C>A	ENST00000597505.1	-	35	5153	c.5154G>T	c.(5152-5154)caG>caT	p.Q1718H				P59894	DCDC1_HUMAN	doublecortin domain containing 1	224					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CGTCCCAGGACTGAATTGGCT	0.498																																						ENST00000597505.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31						c.(5152-5154)caG>caT		doublecortin domain containing 1							113.0	112.0	112.0					11																	30902775		1990	4169	6159	SO:0001583	missense	341019				intracellular signal transduction			g.chr11:30902775C>A	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.5154G>T	11.37:g.30902775C>A	ENSP00000472625:p.Gln1718His						p.Q1718H			P59894	DCDC1_HUMAN			35	5153	-	Lung SC(675;0.225)		224					A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000597505.1	37	c.5154G>T																																																																																					0.498	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807		3	37	1	0	0.115264	1	0.115264	3	37				
SVEP1	79987	broad.mit.edu	37	9	113231326	113231326	+	Silent	SNP	G	G	A			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr9:113231326G>A	ENST00000401783.2	-	17	3390	c.3054C>T	c.(3052-3054)tgC>tgT	p.C1018C	SVEP1_ENST00000302728.8_Silent_p.C1018C|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Silent_p.C995C	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1018					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATCCGATCCGGCAGCTTTCAC	0.423																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(3052-3054)tgC>tgT		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							87.0	83.0	85.0					9																	113231326		1838	4076	5914	SO:0001819	synonymous_variant	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113231326G>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.3054C>T	9.37:g.113231326G>A						SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Silent_p.C1018C|SVEP1_ENST00000374469.1_Silent_p.C995C	p.C1018C	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			17	3390	-			1018					Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	c.3054C>T	CCDS48004.1																																																																																				0.423	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				3	47	0	0	0	1	0	3	47				
THUMPD3	25917	broad.mit.edu	37	3	9426287	9426287	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr3:9426287A>G	ENST00000345094.3	+	10	1773	c.1439A>G	c.(1438-1440)tAc>tGc	p.Y480C	THUMPD3_ENST00000452837.2_Missense_Mutation_p.Y480C|SETD5-AS1_ENST00000468186.1_RNA|SETD5-AS1_ENST00000523354.1_RNA|SETD5-AS1_ENST00000519043.1_RNA|SETD5-AS1_ENST00000521609.1_RNA|SETD5-AS1_ENST00000520629.1_RNA|THUMPD3_ENST00000515662.2_Missense_Mutation_p.Y480C	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	480						cytoplasm (GO:0005737)|nucleolus (GO:0005730)	methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		GCTGCAGTTTACGTTCTGATA	0.433																																						ENST00000345094.3																			0				NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19						c.(1438-1440)tAc>tGc		THUMP domain containing 3							424.0	350.0	375.0					3																	9426287		2203	4300	6503	SO:0001583	missense	25917						methyltransferase activity|protein binding|RNA binding	g.chr3:9426287A>G	AL117483	CCDS2573.1	3p25.3	2004-06-04			ENSG00000134077	ENSG00000134077			24493	protein-coding gene	gene with protein product						12477932	Standard	NM_015453		Approved	DKFZP434F091	uc003brn.4	Q9BV44	OTTHUMG00000097031	ENST00000345094.3:c.1439A>G	3.37:g.9426287A>G	ENSP00000339532:p.Tyr480Cys					THUMPD3_ENST00000452837.2_Missense_Mutation_p.Y480C|THUMPD3_ENST00000515662.2_Missense_Mutation_p.Y480C|SETD5-AS1_ENST00000468186.1_RNA	p.Y480C	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.101)	10	1773	+	Medulloblastoma(99;0.227)		480					Q9H8V6|Q9NVC1|Q9UFS3	Missense_Mutation	SNP	ENST00000345094.3	37	c.1439A>G	CCDS2573.1	.	.	.	.	.	.	.	.	.	.	A	16.37	3.104818	0.56291	.	.	ENSG00000134077	ENST00000452837;ENST00000345094;ENST00000515662	T;T;T	0.61859	0.07;0.07;0.07	5.67	5.67	0.87782	.	0.109894	0.64402	D	0.000005	T	0.74137	0.3677	M	0.66939	2.045	0.53005	D	0.999962	D	0.89917	1.0	D	0.74674	0.984	T	0.77156	-0.2691	10	0.87932	D	0	-15.0485	15.5808	0.76439	1.0:0.0:0.0:0.0	.	480	Q9BV44	THUM3_HUMAN	C	480	ENSP00000395893:Y480C;ENSP00000339532:Y480C;ENSP00000424064:Y480C	ENSP00000339532:Y480C	Y	+	2	0	THUMPD3	9401287	1.000000	0.71417	0.999000	0.59377	0.373000	0.29922	4.665000	0.61547	2.176000	0.68965	0.454000	0.30748	TAC		0.433	THUMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214127.1	NM_015453		4	135	0	0	0	1	0	4	135				
PCSK1	5122	broad.mit.edu	37	5	95728927	95728927	+	Silent	SNP	C	C	T			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr5:95728927C>T	ENST00000311106.3	-	14	2277	c.2040G>A	c.(2038-2040)ccG>ccA	p.P680P	PCSK1_ENST00000513085.1_5'UTR|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Silent_p.P633P	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	680					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	ATTGCTTTGGCGGTGAGTTTT	0.532																																						ENST00000311106.3																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36						c.(2038-2040)ccG>ccA		proprotein convertase subtilisin/kexin type 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						110.0	115.0	113.0					5																	95728927		2203	4300	6503	SO:0001819	synonymous_variant	5122				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	g.chr5:95728927C>T		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"""prohormone convertase 3"", ""prohormone convertase 1"", ""neuroendocrine convertase 1"", ""proprotein convertase 1"""	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.2040G>A	5.37:g.95728927C>T						PCSK1_ENST00000513085.1_5'UTR|PCSK1_ENST00000508626.1_Silent_p.P633P|CTD-2337A12.1_ENST00000502645.2_RNA	p.P680P	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN		all cancers(79;3.44e-16)	14	2277	-		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)	680					B7Z8T7|E9PHA1|P78478|Q92532	Silent	SNP	ENST00000311106.3	37	c.2040G>A	CCDS4081.1																																																																																				0.532	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		5	65	0	0	0	1	0	5	65				
PSG8	440533	broad.mit.edu	37	19	43258479	43258479	+	Missense_Mutation	SNP	G	G	A	rs146638942		TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr19:43258479G>A	ENST00000306511.4	-	5	1346	c.1249C>T	c.(1249-1251)Cgg>Tgg	p.R417W	PSG8_ENST00000404209.4_Intron|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000406636.3_Intron|PSG8_ENST00000401467.2_Intron	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	417						extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				ACTGGGATCCGCTTACCAGAG	0.478													.|||	1	0.000199681	0.0	0.0	5008	,	,		18406	0.001		0.0	False		,,,				2504	0.0					ENST00000306511.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(1249-1251)Cgg>Tgg		pregnancy specific beta-1-glycoprotein 8							192.0	204.0	200.0					19																	43258479		2203	4299	6502	SO:0001583	missense	0					extracellular region		g.chr19:43258479G>A	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.1249C>T	19.37:g.43258479G>A	ENSP00000305005:p.Arg417Trp					PSG8_ENST00000401467.2_Intron|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000406636.3_Intron|PSG8_ENST00000404209.4_Intron	p.R417W	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN			5	1346	-		Prostate(69;0.00899)	417					A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.1249C>T	CCDS33037.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	N	3.322	-0.138548	0.06669	.	.	ENSG00000124467	ENST00000407488;ENST00000306511	T	0.20463	2.07	1.55	0.408	0.16377	.	.	.	.	.	T	0.05686	0.0149	N	0.00707	-1.245	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35025	-0.9805	9	0.51188	T	0.08	.	4.5273	0.11988	0.5853:0.0:0.4147:0.0	.	324;417	B5MCQ0;Q9UQ74	.;PSG8_HUMAN	W	324;417	ENSP00000305005:R417W	ENSP00000305005:R417W	R	-	1	2	PSG8	47950319	0.019000	0.18553	0.002000	0.10522	0.004000	0.04260	0.244000	0.18124	-0.768000	0.04626	-1.451000	0.01035	CGG		0.478	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			5	185	0	0	0	1	0	5	185				
TCF4	6925	broad.mit.edu	37	18	52896292	52896292	+	Silent	SNP	C	C	T			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr18:52896292C>T	ENST00000356073.4	-	18	2264	c.1653G>A	c.(1651-1653)gaG>gaA	p.E551E	TCF4_ENST00000568740.1_Silent_p.E526E|TCF4_ENST00000354452.3_Silent_p.E555E|TCF4_ENST00000564403.2_Silent_p.E561E|TCF4_ENST00000568673.1_Silent_p.E531E|TCF4_ENST00000566279.1_Silent_p.E495E|TCF4_ENST00000543082.1_Silent_p.E509E|TCF4_ENST00000565018.2_Silent_p.E555E|TCF4_ENST00000567880.1_Silent_p.E491E|TCF4_ENST00000570177.2_Silent_p.E421E|TCF4_ENST00000566286.1_Silent_p.E548E|TCF4_ENST00000398339.1_Silent_p.E657E|TCF4_ENST00000564999.1_Silent_p.E551E|TCF4_ENST00000540999.1_Silent_p.E527E|TCF4_ENST00000544241.2_Silent_p.E484E|TCF4_ENST00000537578.1_Silent_p.E531E|TCF4_ENST00000457482.3_Silent_p.E395E|TCF4_ENST00000561992.1_Silent_p.E421E|TCF4_ENST00000564228.1_Silent_p.E480E|TCF4_ENST00000537856.3_Silent_p.E421E|TCF4_ENST00000570287.2_Silent_p.E391E|TCF4_ENST00000561831.3_Silent_p.E391E	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	551					DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|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 RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GTGTCAGGTCCTCATCGTCAT	0.493																																						ENST00000354452.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41						c.(1663-1665)gaG>gaA		transcription factor 4							153.0	136.0	142.0					18																	52896292		2203	4300	6503	SO:0001819	synonymous_variant	6925				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding	g.chr18:52896292C>T	M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"""Basic helix-loop-helix proteins"""	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.1653G>A	18.37:g.52896292C>T						TCF4_ENST00000564999.1_Silent_p.E551E|TCF4_ENST00000540999.1_Silent_p.E527E|TCF4_ENST00000544241.2_Silent_p.E484E|TCF4_ENST00000537856.3_Silent_p.E421E|TCF4_ENST00000457482.3_Silent_p.E395E|TCF4_ENST00000564228.1_Silent_p.E480E|TCF4_ENST00000567880.1_Silent_p.E491E|TCF4_ENST00000356073.4_Silent_p.E551E|TCF4_ENST00000566279.1_Silent_p.E495E|TCF4_ENST00000543082.1_Silent_p.E509E|TCF4_ENST00000564403.2_Silent_p.E561E|TCF4_ENST00000561831.3_Silent_p.E391E|TCF4_ENST00000568673.1_Silent_p.E531E|TCF4_ENST00000565018.2_Silent_p.E555E|TCF4_ENST00000561992.1_Silent_p.E421E|TCF4_ENST00000398339.1_Silent_p.E657E|TCF4_ENST00000568740.1_Silent_p.E526E|TCF4_ENST00000537578.1_Silent_p.E531E|TCF4_ENST00000570287.2_Silent_p.E391E|TCF4_ENST00000570177.2_Silent_p.E421E|TCF4_ENST00000566286.1_Silent_p.E548E	p.E555E	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN		Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)	18	2276	-			551					B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Silent	SNP	ENST00000356073.4	37	c.1665G>A	CCDS11960.1																																																																																				0.493	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	NM_003199		4	93	0	0	0	1	0	4	93				
DUSP27	92235	broad.mit.edu	37	1	167088583	167088583	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr1:167088583T>C	ENST00000361200.2	+	5	701	c.535T>C	c.(535-537)Tac>Cac	p.Y179H	DUSP27_ENST00000443333.1_Missense_Mutation_p.Y179H|DUSP27_ENST00000271385.5_Missense_Mutation_p.Y179H			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	179					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CCCCGAATTCTACACTGGCCT	0.557																																						ENST00000361200.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						c.(535-537)Tac>Cac		dual specificity phosphatase 27 (putative)							128.0	116.0	120.0					1																	167088583		2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167088583T>C	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.535T>C	1.37:g.167088583T>C	ENSP00000354483:p.Tyr179His					DUSP27_ENST00000271385.5_Missense_Mutation_p.Y179H|DUSP27_ENST00000443333.1_Missense_Mutation_p.Y179H	p.Y179H			Q5VZP5	DUS27_HUMAN			5	701	+			179					A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.535T>C	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.693821	0.88735	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.61158	0.13;0.13;0.13	5.18	5.18	0.71444	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.68320	0.2988	M	0.68317	2.08	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.73773	-0.3877	10	0.87932	D	0	-23.5185	15.0182	0.71605	0.0:0.0:0.0:1.0	.	179	Q5VZP5	DUS27_HUMAN	H	179	ENSP00000354483:Y179H;ENSP00000271385:Y179H;ENSP00000404874:Y179H	ENSP00000271385:Y179H	Y	+	1	0	DUSP27	165355207	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.698000	0.84413	1.936000	0.56123	0.482000	0.46254	TAC		0.557	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		5	36	0	0	0	1	0	5	36				
GPR98	84059	broad.mit.edu	37	5	89990012	89990012	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr5:89990012G>A	ENST00000405460.2	+	33	7535	c.7439G>A	c.(7438-7440)tGg>tAg	p.W2480*		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2480	Calx-beta 17. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCAGACTTCTGGACCTACAGG	0.488																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(7438-7440)tGg>tAg		G protein-coupled receptor 98							69.0	68.0	68.0					5																	89990012		1941	4139	6080	SO:0001587	stop_gained	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89990012G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.7439G>A	5.37:g.89990012G>A	ENSP00000384582:p.Trp2480*						p.W2480*	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	33	7535	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	2480					O75171|Q8TF58|Q9H0X5|Q9UL61	Nonsense_Mutation	SNP	ENST00000405460.2	37	c.7439G>A	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	49|49	16.038647|16.038647	0.99852|0.99852	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000509621|ENST00000405460;ENST00000296619	.|.	.|.	.|.	5.92|5.92	4.13|4.13	0.48395|0.48395	.|.	.|0.700618	.|0.15746	.|N	.|0.246664	T|.	0.28067|.	0.0692|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.10894|.	-1.0610|.	4|.	.|0.02654	.|T	.|1	.|.	6.9208|6.9208	0.24387|0.24387	0.145:0.0:0.7142:0.1407|0.145:0.0:0.7142:0.1407	.|.	.|.	.|.	.|.	R|X	46|2480	.|.	.|ENSP00000296619:W2480X	G|W	+|+	1|2	0|0	GPR98|GPR98	90025768|90025768	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	4.040000|4.040000	0.57333|0.57333	0.820000|0.820000	0.34516|0.34516	0.655000|0.655000	0.94253|0.94253	GGA|TGG		0.488	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		3	28	0	0	0	1	0	3	28				
ZNF609	23060	broad.mit.edu	37	15	64967480	64967480	+	Silent	SNP	C	C	T			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr15:64967480C>T	ENST00000326648.3	+	4	2555	c.2427C>T	c.(2425-2427)ggC>ggT	p.G809G		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	809						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCATTGGAGGCAGTAGCCGCC	0.557																																						ENST00000326648.3																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2425-2427)ggC>ggT		zinc finger protein 609							71.0	68.0	69.0					15																	64967480		2203	4297	6500	SO:0001819	synonymous_variant	23060					nucleus	zinc ion binding	g.chr15:64967480C>T	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.2427C>T	15.37:g.64967480C>T							p.G809G	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN			4	2555	+			809					Q0D2I2	Silent	SNP	ENST00000326648.3	37	c.2427C>T	CCDS32270.1																																																																																				0.557	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		4	67	0	0	0	1	0	4	67				
SORCS1	114815	broad.mit.edu	37	10	108434877	108434877	+	Missense_Mutation	SNP	T	T	A			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr10:108434877T>A	ENST00000263054.6	-	14	1877	c.1870A>T	c.(1870-1872)Agt>Tgt	p.S624C	SORCS1_ENST00000369698.1_Missense_Mutation_p.S159C|SORCS1_ENST00000344440.6_Missense_Mutation_p.S624C	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	624					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GATGTGAAACTGTATTTGCTC	0.388																																						ENST00000263054.6																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.(1870-1872)Agt>Tgt		sortilin-related VPS10 domain containing receptor 1							124.0	117.0	119.0					10																	108434877		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108434877T>A	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.1870A>T	10.37:g.108434877T>A	ENSP00000263054:p.Ser624Cys					SORCS1_ENST00000344440.6_Missense_Mutation_p.S624C|SORCS1_ENST00000369698.1_Missense_Mutation_p.S159C	p.S624C	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	14	1877	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	624					A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.1870A>T	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.235190	0.79800	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.31510	1.49;1.49;1.49	5.92	5.92	0.95590	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.49729	0.1574	M	0.64997	1.995	0.42578	D	0.993202	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.72075	0.947;0.976;0.976;0.947;0.976	T	0.49360	-0.8948	9	.	.	.	-17.8461	10.6656	0.45728	0.0:0.071:0.0:0.929	.	624;624;624;624;624	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	C	159;624;624	ENSP00000358712:S159C;ENSP00000263054:S624C;ENSP00000345964:S624C	.	S	-	1	0	SORCS1	108424867	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.971000	0.70440	2.266000	0.75297	0.533000	0.62120	AGT		0.388	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		3	62	0	0	0	1	0	3	62				
MUC16	94025	broad.mit.edu	37	19	9057380	9057380	+	Silent	SNP	A	A	T			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr19:9057380A>T	ENST00000397910.4	-	3	30269	c.30066T>A	c.(30064-30066)tcT>tcA	p.S10022S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10024	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACAACAGAGAAGATGAAGAGC	0.438																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(30064-30066)tcT>tcA		mucin 16, cell surface associated							67.0	65.0	66.0					19																	9057380		1965	4150	6115	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9057380A>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.30066T>A	19.37:g.9057380A>T							p.S10022S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	30269	-			10024			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.30066T>A	CCDS54212.1																																																																																				0.438	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		9	29	0	0	0	1	0	9	29				
CARD11	84433	broad.mit.edu	37	7	2953048	2953048	+	Silent	SNP	G	G	A			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr7:2953048G>A	ENST00000396946.4	-	22	3295	c.2892C>T	c.(2890-2892)agC>agT	p.S964S		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	964					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CGCGTACCAGGCTGTAGGGGA	0.677			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(2890-2892)agC>agT		caspase recruitment domain family, member 11							72.0	62.0	65.0					7																	2953048		2203	4300	6503	SO:0001819	synonymous_variant	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2953048G>A	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.2892C>T	7.37:g.2953048G>A							p.S964S	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	22	3295	-		Ovarian(82;0.0115)	964					A4D1Z7|Q2NKN7|Q548H3	Silent	SNP	ENST00000396946.4	37	c.2892C>T	CCDS5336.2																																																																																				0.677	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		5	42	0	0	0	1	0	5	42				
SIRPB2	284759	broad.mit.edu	37	20	1460495	1460495	+	Missense_Mutation	SNP	G	G	A	rs200805923		TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr20:1460495G>A	ENST00000359801.3	-	2	337	c.301C>T	c.(301-303)Cgg>Tgg	p.R101W	SIRPB2_ENST00000444444.2_Intron|SIRPB2_ENST00000537284.1_Intron|SIRPB2_ENST00000608747.1_Intron	NM_001122962.1	NP_001116434.1	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein beta 2	94	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCTGATGTCCGTTGGATCATG	0.448													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22234	0.0		0.0	False		,,,				2504	0.0					ENST00000359801.3																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(301-303)Cgg>Tgg		signal-regulatory protein beta 2							142.0	126.0	131.0					20																	1460495		1568	3582	5150	SO:0001583	missense	284759					integral to membrane		g.chr20:1460495G>A	AL109658	CCDS42849.1, CCDS46570.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000196209	ENSG00000196209		"""Signal-regulatory proteins"", ""Immunoglobulin superfamily / V-set domain containing"""	16247	protein-coding gene	gene with protein product			"""protein tyrosine phosphatase, non-receptor type 1-like"", ""protein tyrosine phosphatase, non-receptor type substrate 1-like 3"""	PTPN1L, PTPNS1L3		16339511	Standard	NM_001122962		Approved	dJ776F14.2	uc002wfg.2	Q5JXA9	OTTHUMG00000031670	ENST00000359801.3:c.301C>T	20.37:g.1460495G>A	ENSP00000352849:p.Arg101Trp					SIRPB2_ENST00000537284.1_Intron|SIRPB2_ENST00000444444.1_Intron|SIRPB2_ENST00000381630.1_Intron	p.R101W	NM_001122962.1	NP_001116434.1	Q5JXA9	SIRB2_HUMAN			2	337	-			101			Ig-like V-type 1.		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000359801.3	37	c.301C>T	CCDS42849.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	11.57	1.679471	0.29783	.	.	ENSG00000196209	ENST00000359801	T	0.41758	0.99	3.57	-0.931	0.10438	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.624730	0.01279	N	0.009679	T	0.28300	0.0699	N	0.22421	0.69	0.09310	N	1	B	0.28552	0.215	B	0.18561	0.022	T	0.24799	-1.0150	10	0.66056	D	0.02	-17.5426	5.2271	0.15401	0.109:0.0:0.3251:0.566	.	101	Q5JXA9	SIRB2_HUMAN	W	101	ENSP00000352849:R101W	ENSP00000352849:R101W	R	-	1	2	SIRPB2	1408495	0.000000	0.05858	0.001000	0.08648	0.367000	0.29736	-1.324000	0.02690	-0.117000	0.11872	-0.136000	0.14681	CGG		0.448	SIRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077544.1	NM_178459		7	49	0	0	0	1	0	7	49				
ANKRD20A8P	729171	broad.mit.edu	37	2	95514945	95514945	+	RNA	SNP	C	C	T			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr2:95514945C>T	ENST00000432432.2	-	0	712				RNU6-1320P_ENST00000390838.1_RNA	NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		AACTACTGTACCGTCTCAGCC	0.308																																						ENST00000432432.2																			0																																																			0							g.chr2:95514945C>T			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95514945C>T								NR_040113.1						0	712	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.308	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			4	204	0	0	0	1	0	4	204				
OR8B8	26493	broad.mit.edu	37	11	124310141	124310141	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr11:124310141C>T	ENST00000328064.2	-	1	913	c.841G>A	c.(841-843)Gtg>Atg	p.V281M		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	281					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		ATGGGCACCACAGTGGTATAG	0.408																																						ENST00000328064.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(841-843)Gtg>Atg		olfactory receptor, family 8, subfamily B, member 8							101.0	92.0	95.0					11																	124310141		2201	4299	6500	SO:0001583	missense	26493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124310141C>T	AF238488	CCDS8446.1	11q24.2	2012-08-09			ENSG00000197125	ENSG00000197125		"""GPCR / Class A : Olfactory receptors"""	8477	protein-coding gene	gene with protein product						9119360	Standard	NM_012378		Approved	TPCR85	uc010sal.2	Q15620	OTTHUMG00000165917	ENST00000328064.2:c.841G>A	11.37:g.124310141C>T	ENSP00000330280:p.Val281Met						p.V281M	NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	913	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	281					A1L446|Q96RC8	Missense_Mutation	SNP	ENST00000328064.2	37	c.841G>A	CCDS8446.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.081226	0.36758	.	.	ENSG00000197125	ENST00000328064	T	0.00297	8.23	3.81	2.9	0.33743	GPCR, rhodopsin-like superfamily (1);	0.171089	0.27411	N	0.019483	T	0.00468	0.0015	M	0.84326	2.69	0.25203	N	0.990039	P	0.46706	0.883	P	0.50162	0.633	T	0.30707	-0.9969	10	0.66056	D	0.02	.	14.088	0.64971	0.0:0.8474:0.1526:0.0	.	281	Q15620	OR8B8_HUMAN	M	281	ENSP00000330280:V281M	ENSP00000330280:V281M	V	-	1	0	OR8B8	123815351	0.000000	0.05858	0.879000	0.34478	0.697000	0.40408	-0.285000	0.08410	1.195000	0.43115	-0.122000	0.15005	GTG		0.408	OR8B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387056.1	NM_012378		8	77	0	0	0	1	0	8	77				
RP11-526P5.2	0	broad.mit.edu	37	10	2561169	2561170	+	lincRNA	INS	-	-	G	rs559394381		TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr10:2561169_2561170insG	ENST00000438753.1	+	0	207																											aagaagaagaagGGGGGGGGAG	0.386																																						ENST00000438753.1																			0																																																			0							g.chr10:2561169_2561170insG																													10.37:g.2561178_2561178dupG														0	207	+									RNA	INS	ENST00000438753.1	37																																																																																						0.386	RP11-526P5.2-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000046447.1			3	3						3	3	---	---	---	---
PDS5B	23047	broad.mit.edu	37	13	33344887	33344888	+	Frame_Shift_Ins	INS	-	-	A			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr13:33344887_33344888insA	ENST00000315596.10	+	33	4346_4347	c.4160_4161insA	c.(4159-4164)ccaaaafs	p.PK1387fs		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	1387					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.N1390fs*4(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		CCATCACAACCAAAAAAAAATG	0.337																																						ENST00000315596.10																			1	Deletion - Frameshift(1)	p.N1390fs*4(1)	ovary(1)	NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62						c.(4159-4161)caafs		PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)																																				SO:0001589	frameshift_variant	23047				cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	g.chr13:33344887_33344888insA	AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.4169dupA	13.37:g.33344896_33344896dupA	ENSP00000313851:p.Pro1387fs						p.Q1387fs	NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)	33	4346_4347	+		Lung SC(185;0.0367)	1387					Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Frame_Shift_Ins	INS	ENST00000315596.10	37	c.4160_4161insA	CCDS41878.1																																																																																				0.337	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		2	4						2	4	---	---	---	---
IGHV3OR16-9	28307	broad.mit.edu	37	16	32077919	32077920	+	RNA	INS	-	-	T	rs4026454|rs2359137	byFrequency	TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chr16:32077919_32077920insT	ENST00000354689.6	+	0	294				RP11-1166P10.6_ENST00000566806.1_RNA					immunoglobulin heavy variable 3/OR16-9 (non-functional)																		GAAAACGGTTATTTTTTTGTTC	0.426																																						ENST00000566806.1																			0																																																			0							g.chr16:32077919_32077920insT	Z29606		16p11.2	2013-12-06	2008-09-11		ENSG00000270472	ENSG00000270472		"""Immunoglobulins / IGH orphons"""	5644	other	immunoglobulin gene			"""immunoglobulin heavy variable 3/OR16-9"""				Standard			Approved	IGHV3/OR16-9			OTTHUMG00000184753		16.37:g.32077926_32077926dupT														0	499	-									RNA	INS	ENST00000354689.6	37																																																																																						0.426	IGHV3OR16-9-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000432530.2			2	4						2	4	---	---	---	---
NHS	4810	broad.mit.edu	37	X	17750109	17750115	+	Frame_Shift_Del	DEL	CCAACAG	CCAACAG	-			TCGA-ZG-A9LU-01A-11D-A41K-08	TCGA-ZG-A9LU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbf7010e-343e-4a33-bf1f-91e5fa93eb6b	c3644dc8-4a3a-4db5-868a-ac65f2772be0	g.chrX:17750109_17750115delCCAACAG	ENST00000380060.3	+	8	4756_4762	c.4418_4424delCCAACAG	c.(4417-4425)cccaacagcfs	p.PNS1473fs	NHS_ENST00000398097.3_Frame_Shift_Del_p.PNS1317fs	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1494					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.P1317P(1)|p.P1473P(1)		breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GTGACAACCCCCAACAGCCAGAGGTCT	0.507																																						ENST00000380060.3																			2	Substitution - coding silent(2)	p.P1317P(1)|p.P1473P(1)	lung(2)	breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71						c.(4417-4425)ccfs		Nance-Horan syndrome (congenital cataracts and dental anomalies)																																				SO:0001589	frameshift_variant	4810					nucleus		g.chrX:17750109_17750115delCCAACAG		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.4418_4424delCCAACAG	X.37:g.17750109_17750115delCCAACAG	ENSP00000369400:p.Pro1473fs					NHS_ENST00000398097.3_Frame_Shift_Del_p.PNS1317fs	p.PNS1473fs	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN			8	4756_4762	+	Hepatocellular(33;0.183)		1473					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Frame_Shift_Del	DEL	ENST00000380060.3	37	c.4418_4424delCCAACAG	CCDS14181.1																																																																																				0.507	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		9	56						9	56	---	---	---	---
