#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
SEPT6	23157	broad.mit.edu	37	X	118783981	118783981	+	Silent	SNP	G	G	A	rs143380835		TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chrX:118783981G>A	ENST00000343984.5	-	5	873	c.609C>T	c.(607-609)agC>agT	p.S203S	SEPT6_ENST00000394617.2_Silent_p.S233S|SEPT6_ENST00000394610.1_Silent_p.S203S|SEPT6_ENST00000354228.4_Silent_p.S203S|SEPT6_ENST00000394616.4_Silent_p.S145S|SEPT6_ENST00000489216.1_Silent_p.S203S|SEPT6_ENST00000360156.7_Silent_p.S203S|SEPT6_ENST00000354416.3_Silent_p.S203S	NM_015129.5	NP_055944.2	Q14141	SEPT6_HUMAN	septin 6	203	Septin-type G.				cytokinesis (GO:0000910)|viral process (GO:0016032)	axon terminus (GO:0043679)|kinetochore (GO:0000776)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)	GTP binding (GO:0005525)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						TGACAAGCTCGCTGGTGATTT	0.473			T	MLL	AML																																	ENST00000394610.1				Dom	yes		X	Xq24	23157	T	septin 6			L	MLL		AML		0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						c.(607-609)agC>agT		septin 6		G	,,,	1,3834		0,1,1631,571	247.0	197.0	214.0		609,609,609,609	-4.2	0.8	X	dbSNP_134	214	0,6728		0,0,2428,1872	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SEPT6	NM_015129.5,NM_145799.3,NM_145800.3,NM_145802.3	,,,	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	,,,	203/435,203/428,203/428,203/430	118783981	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	23157				cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding	g.chrX:118783981G>A	D50918	CCDS14583.1, CCDS14584.1, CCDS14585.1	Xq24	2013-01-21			ENSG00000125354	ENSG00000125354		"""Septins"""	15848	protein-coding gene	gene with protein product		300683				8590280, 10744683	Standard	NM_015129		Approved	KIAA0128, SEP2, SEPT2, MGC16619, MGC20339	uc004erv.3	Q14141	OTTHUMG00000022280	ENST00000343984.5:c.609C>T	X.37:g.118783981G>A						SEPT6_ENST00000394616.4_Silent_p.S145S|SEPT6_ENST00000360156.7_Silent_p.S203S|SEPT6_ENST00000354416.3_Silent_p.S203S|SEPT6_ENST00000343984.5_Silent_p.S203S|SEPT6_ENST00000354228.4_Silent_p.S203S|SEPT6_ENST00000489216.1_Silent_p.S203S|SEPT6_ENST00000394617.2_Silent_p.S233S	p.S203S	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN			5	873	-			203					Q5JTK0|Q969W5|Q96A13|Q96GR1|Q96P86|Q96P87	Silent	SNP	ENST00000343984.5	37	c.609C>T	CCDS14584.1																																																																																				0.473	SEPT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058059.1	NM_145802		11	71	0	0	0	1	0	11	71				
CCNF	899	broad.mit.edu	37	16	2506639	2506639	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr16:2506639C>T	ENST00000397066.4	+	17	2067	c.1979C>T	c.(1978-1980)cCa>cTa	p.P660L	RP11-715J22.4_ENST00000566085.1_lincRNA	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	660	PEST.				mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GAGGCTTGTCCAGAGGACAAG	0.632																																						ENST00000397066.4																			0				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20						c.(1978-1980)cCa>cTa		cyclin F							58.0	59.0	59.0					16																	2506639		2198	4300	6498	SO:0001583	missense	899				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding	g.chr16:2506639C>T	Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"""F-boxes /  ""other"""""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.1979C>T	16.37:g.2506639C>T	ENSP00000380256:p.Pro660Leu					RP11-715J22.4_ENST00000566085.1_lincRNA	p.P660L	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN			17	2067	+		Ovarian(90;0.17)	660			PEST.		B2R8H3|Q96EG9	Missense_Mutation	SNP	ENST00000397066.4	37	c.1979C>T	CCDS10467.1	.	.	.	.	.	.	.	.	.	.	C	3.523	-0.097291	0.07010	.	.	ENSG00000162063	ENST00000397066;ENST00000293968	T	0.20332	2.08	5.3	0.217	0.15264	.	0.700716	0.14362	N	0.324374	T	0.11623	0.0283	L	0.31664	0.95	0.20489	N	0.999892	B	0.02656	0.0	B	0.04013	0.001	T	0.28902	-1.0029	10	0.23891	T	0.37	-3.0874	4.2195	0.10551	0.1607:0.4764:0.0:0.3629	.	660	P41002	CCNF_HUMAN	L	660;575	ENSP00000380256:P660L	ENSP00000293968:P575L	P	+	2	0	CCNF	2446640	0.000000	0.05858	0.206000	0.23566	0.348000	0.29142	0.077000	0.14738	0.161000	0.19458	0.462000	0.41574	CCA		0.632	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250801.1	NM_001761		5	38	0	0	0	1	0	5	38				
KCNRG	283518	broad.mit.edu	37	13	50594457	50594457	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr13:50594457G>T	ENST00000312942.1	+	2	926	c.686G>T	c.(685-687)aGa>aTa	p.R229I	KCNRG_ENST00000360473.4_3'UTR|TRIM13_ENST00000478111.1_3'UTR	NM_173605.1	NP_775876.1	Q8N5I3	KCNRG_HUMAN	potassium channel regulator	229					protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		GTCAGCACTAGAACAGTATCT	0.388																																						ENST00000312942.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9						c.(685-687)aGa>aTa		potassium channel regulator							80.0	76.0	77.0					13																	50594457		2203	4300	6503	SO:0001583	missense	0					voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity	g.chr13:50594457G>T		CCDS9424.1, CCDS41889.1	13q14.11	2008-05-02			ENSG00000198553	ENSG00000198553			18893	protein-coding gene	gene with protein product							Standard	NM_173605		Approved		uc001vdu.3	Q8N5I3	OTTHUMG00000140140	ENST00000312942.1:c.686G>T	13.37:g.50594457G>T	ENSP00000324191:p.Arg229Ile					TRIM13_ENST00000478111.1_3'UTR|KCNRG_ENST00000360473.4_3'UTR	p.R229I	NM_173605.1	NP_775876.1	Q8N5I3	KCNRG_HUMAN		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)	2	926	+		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	229					A2A2X9|Q0P6D0|Q8IU75|Q8N3Q9	Missense_Mutation	SNP	ENST00000312942.1	37	c.686G>T	CCDS9424.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.626266	0.87560	.	.	ENSG00000198553	ENST00000312942	T	0.63417	-0.04	5.3	4.46	0.54185	.	0.070774	0.53938	D	0.000054	T	0.68430	0.3000	L	0.34521	1.04	0.48696	D	0.999696	D	0.71674	0.998	D	0.66716	0.946	T	0.71695	-0.4515	10	0.72032	D	0.01	.	13.7244	0.62750	0.0741:0.0:0.9259:0.0	.	229	Q8N5I3	KCNRG_HUMAN	I	229	ENSP00000324191:R229I	ENSP00000324191:R229I	R	+	2	0	KCNRG	49492458	1.000000	0.71417	0.980000	0.43619	0.961000	0.63080	5.615000	0.67702	1.249000	0.43950	0.557000	0.71058	AGA		0.388	KCNRG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276308.1			11	23	1	0	5.01169e-05	1	5.21765e-05	11	23				
C16orf70	80262	broad.mit.edu	37	16	67159901	67159901	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr16:67159901G>T	ENST00000219139.3	+	3	375	c.187G>T	c.(187-189)Gac>Tac	p.D63Y	C16orf70_ENST00000569683.1_3'UTR|C16orf70_ENST00000569600.1_Missense_Mutation_p.D63Y	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	63										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		CCTGACTCAGGACGGGATCAA	0.378																																						ENST00000219139.3																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17						c.(187-189)Gac>Tac		chromosome 16 open reading frame 70							163.0	165.0	165.0					16																	67159901		2200	4300	6500	SO:0001583	missense	80262							g.chr16:67159901G>T	AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 6"""	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510	ENST00000219139.3:c.187G>T	16.37:g.67159901G>T	ENSP00000219139:p.Asp63Tyr					C16orf70_ENST00000569600.1_Missense_Mutation_p.D63Y|C16orf70_ENST00000569683.1_3'UTR	p.D63Y	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)	3	375	+		Ovarian(137;0.192)	63					Q9HA86	Missense_Mutation	SNP	ENST00000219139.3	37	c.187G>T	CCDS10828.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961476	0.53400	.	.	ENSG00000125149	ENST00000219139	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.78755	0.4333	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.72547	-0.4260	9	0.22109	T	0.4	-7.9088	18.3732	0.90420	0.0:0.0:1.0:0.0	.	41;63	Q9BSU1-2;Q9BSU1	.;CP070_HUMAN	Y	63	.	ENSP00000219139:D63Y	D	+	1	0	C16orf70	65717402	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.301000	0.96167	2.941000	0.99782	0.655000	0.94253	GAC		0.378	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187		32	81	1	0	1.96642e-18	1	2.13497e-18	32	81				
C16orf70	80262	broad.mit.edu	37	16	67159903	67159903	+	Silent	SNP	C	C	T	rs376996983		TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr16:67159903C>T	ENST00000219139.3	+	3	377	c.189C>T	c.(187-189)gaC>gaT	p.D63D	C16orf70_ENST00000569683.1_3'UTR|C16orf70_ENST00000569600.1_Silent_p.D63D	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	63										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		TGACTCAGGACGGGATCAAAC	0.378																																						ENST00000219139.3																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17						c.(187-189)gaC>gaT		chromosome 16 open reading frame 70		C		2,4398	4.2+/-10.8	0,2,2198	162.0	164.0	163.0		189	0.7	1.0	16		163	0,8600		0,0,4300	no	coding-synonymous	C16orf70	NM_025187.3		0,2,6498	TT,TC,CC		0.0,0.0455,0.0154		63/423	67159903	2,12998	2200	4300	6500	SO:0001819	synonymous_variant	80262							g.chr16:67159903C>T	AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 6"""	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510	ENST00000219139.3:c.189C>T	16.37:g.67159903C>T						C16orf70_ENST00000569600.1_Silent_p.D63D|C16orf70_ENST00000569683.1_3'UTR	p.D63D	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)	3	377	+		Ovarian(137;0.192)	63					Q9HA86	Silent	SNP	ENST00000219139.3	37	c.189C>T	CCDS10828.1																																																																																				0.378	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187		32	80	0	0	0	1	0	32	80				
SNAI3	333929	broad.mit.edu	37	16	88747582	88747582	+	Missense_Mutation	SNP	G	G	A	rs139790709		TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr16:88747582G>A	ENST00000332281.5	-	2	703	c.617C>T	c.(616-618)aCg>aTg	p.T206M	SNAI3-AS1_ENST00000563261.1_RNA	NM_178310.3	NP_840101.1	Q3KNW1	SNAI3_HUMAN	snail family zinc finger 3	206					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	copper ion binding (GO:0005507)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.048)		GCAGGGCAGCGTGTGAGTGCG	0.612																																					Colon(27;366 710 19748 23199 27567)	ENST00000332281.5																			0				NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6						c.(616-618)aCg>aTg		snail family zinc finger 3		G	MET/THR	0,4396		0,0,2198	116.0	102.0	107.0		617	4.7	1.0	16	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SNAI3	NM_178310.3	81	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	206/293	88747582	1,12995	2198	4300	6498	SO:0001583	missense	333929				oxidation-reduction process		copper ion binding|DNA binding|zinc ion binding	g.chr16:88747582G>A	BC041461	CCDS32505.1	16q24.3	2013-05-23	2013-05-23			ENSG00000185669		"""Snail homologs"", ""Zinc fingers, C2H2-type"""	18411	protein-coding gene	gene with protein product		612741	"""zinc finger protein 293"", ""snail homolog 3 (Drosophila)"""	ZNF293		12579345	Standard	NM_178310		Approved	SMUC, Zfp293	uc002flj.3	Q3KNW1		ENST00000332281.5:c.617C>T	16.37:g.88747582G>A	ENSP00000327968:p.Thr206Met					SNAI3-AS1_ENST00000563261.1_RNA	p.T206M	NM_178310.3	NP_840101.1	Q3KNW1	SNAI3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.048)	2	703	-			206					Q86SU5	Missense_Mutation	SNP	ENST00000332281.5	37	c.617C>T	CCDS32505.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.635765	0.87760	0.0	1.16E-4	ENSG00000185669	ENST00000332281	T	0.36520	1.25	4.73	4.73	0.59995	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.64182	0.2575	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70999	-0.4719	10	0.87932	D	0	-18.018	16.8282	0.85937	0.0:0.0:1.0:0.0	.	206	Q3KNW1	SNAI3_HUMAN	M	206	ENSP00000327968:T206M	ENSP00000327968:T206M	T	-	2	0	SNAI3	87275083	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	6.235000	0.72332	2.337000	0.79520	0.561000	0.74099	ACG		0.612	SNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422582.1			16	168	0	0	0	1	0	16	168				
RING1	6015	broad.mit.edu	37	6	33177793	33177793	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr6:33177793G>A	ENST00000374656.4	+	4	549	c.341G>A	c.(340-342)cGg>cAg	p.R114Q	MIR219-1_ENST00000362166.1_RNA|RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	114	Necessary for transcriptional repression. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|histone H2A monoubiquitination (GO:0035518)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						TATCCTAGCCGGGAGGAATAC	0.567																																						ENST00000374656.4																			0				endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						c.(340-342)cGg>cAg		ring finger protein 1							69.0	61.0	64.0					6																	33177793		2203	4300	6503	SO:0001583	missense	6015				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding	g.chr6:33177793G>A		CCDS34424.1	6p21.3	2013-01-09			ENSG00000204227	ENSG00000204227		"""RING-type (C3HC4) zinc fingers"""	10018	protein-coding gene	gene with protein product		602045				1906426	Standard	NM_002931		Approved	RNF1	uc003odk.3	Q06587	OTTHUMG00000031278	ENST00000374656.4:c.341G>A	6.37:g.33177793G>A	ENSP00000363787:p.Arg114Gln					RING1_ENST00000478431.1_3'UTR	p.R114Q	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN			4	549	+			114			Necessary for transcriptional repression (By similarity).		A8JZZ0|Q5JP96|Q5SQW2|Q86V19	Missense_Mutation	SNP	ENST00000374656.4	37	c.341G>A	CCDS34424.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.877968	0.72294	.	.	ENSG00000204227	ENST00000374656	D	0.84660	-1.88	4.23	3.36	0.38483	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.64402	D	0.000003	D	0.83440	0.5255	M	0.72894	2.215	0.44668	D	0.997657	D	0.67145	0.996	P	0.55508	0.777	T	0.82157	-0.0596	10	0.37606	T	0.19	-13.4213	9.6244	0.39741	0.1033:0.0:0.8967:0.0	.	114	Q06587	RING1_HUMAN	Q	114	ENSP00000363787:R114Q	ENSP00000363787:R114Q	R	+	2	0	RING1	33285771	1.000000	0.71417	0.987000	0.45799	0.756000	0.42949	9.249000	0.95470	0.990000	0.38787	0.542000	0.68232	CGG		0.567	RING1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076609.2			4	50	0	0	0	1	0	4	50				
MRGPRX2	117194	broad.mit.edu	37	11	19077806	19077806	+	Silent	SNP	G	G	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr11:19077806G>A	ENST00000329773.2	-	2	231	c.144C>T	c.(142-144)aaC>aaT	p.N48N		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	48					positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						GCACAAACCCGTTTCCTACCA	0.582																																					GBM(198;1966 2199 4849 37227 49954)	ENST00000329773.2																			0				NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						c.(142-144)aaC>aaT		MAS-related GPR, member X2							94.0	101.0	98.0					11																	19077806		2199	4293	6492	SO:0001819	synonymous_variant	117194				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	g.chr11:19077806G>A		CCDS7847.1	11p15.1	2013-10-10			ENSG00000183695	ENSG00000183695		"""GPCR / Class A : Orphans"""	17983	protein-coding gene	gene with protein product		607228				11551509	Standard	NM_054030		Approved	MRGX2	uc001mph.3	Q96LB1	OTTHUMG00000166098	ENST00000329773.2:c.144C>T	11.37:g.19077806G>A							p.N48N	NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN			2	231	-			48					B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Silent	SNP	ENST00000329773.2	37	c.144C>T	CCDS7847.1																																																																																				0.582	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387819.1	NM_054030		37	71	0	0	0	1	0	37	71				
PSG6	5675	broad.mit.edu	37	19	43411267	43411267	+	Silent	SNP	G	G	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr19:43411267G>A	ENST00000292125.2	-	5	1091	c.1047C>T	c.(1045-1047)ctC>ctT	p.L349L	PSG6_ENST00000402603.4_Silent_p.L256L|PSG6_ENST00000187910.2_Silent_p.L349L	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	349	Ig-like C2-type 3.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				AGGACAAGTCGAGGTTTTCTC	0.463																																						ENST00000187910.2																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(1045-1047)ctC>ctT		pregnancy specific beta-1-glycoprotein 6							172.0	184.0	180.0					19																	43411267		2201	4300	6501	SO:0001819	synonymous_variant	5675							g.chr19:43411267G>A		CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.1047C>T	19.37:g.43411267G>A						PSG6_ENST00000292125.2_Silent_p.L349L|PSG6_ENST00000402603.4_Silent_p.L256L	p.L349L	NM_001031850.3	NP_001027020.1					5	1112	-		Prostate(69;0.00899)						O75244|Q15224|Q15235|Q549K1	Silent	SNP	ENST00000292125.2	37	c.1047C>T	CCDS12613.1																																																																																				0.463	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782		32	175	0	0	0	1	0	32	175				
NRP2	8828	broad.mit.edu	37	2	206562279	206562279	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr2:206562279G>A	ENST00000357785.5	+	2	116	c.85G>A	c.(85-87)Gga>Aga	p.G29R	NRP2_ENST00000360409.3_Missense_Mutation_p.G29R|NRP2_ENST00000540841.1_Missense_Mutation_p.G29R|NRP2_ENST00000357118.4_Missense_Mutation_p.G29R|NRP2_ENST00000412873.2_Missense_Mutation_p.G29R|NRP2_ENST00000272849.3_Missense_Mutation_p.G29R|NRP2_ENST00000417189.1_Missense_Mutation_p.G29R|NRP2_ENST00000355117.4_Missense_Mutation_p.G29R|NRP2_ENST00000540178.1_Missense_Mutation_p.G29R			Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.G29*(4)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CCCACCGTGCGGAGGTCGTTT	0.512																																						ENST00000360409.3																			4	Substitution - Nonsense(4)	p.G29*(4)	lung(4)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						c.(85-87)Gga>Aga		neuropilin 2							294.0	282.0	286.0					2																	206562279		2203	4300	6503	SO:0001583	missense	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206562279G>A	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.85G>A	2.37:g.206562279G>A	ENSP00000350432:p.Gly29Arg					NRP2_ENST00000412873.2_Missense_Mutation_p.G29R|NRP2_ENST00000540841.1_Missense_Mutation_p.G29R|NRP2_ENST00000357118.4_Missense_Mutation_p.G29R|NRP2_ENST00000272849.3_Missense_Mutation_p.G29R|NRP2_ENST00000355117.4_Missense_Mutation_p.G29R|NRP2_ENST00000417189.1_Missense_Mutation_p.G29R|NRP2_ENST00000357785.5_Missense_Mutation_p.G29R|NRP2_ENST00000540178.1_Missense_Mutation_p.G29R	p.G29R	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN			2	876	+			29			CUB 1.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	37	c.85G>A	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.242779	0.79912	.	.	ENSG00000118257	ENST00000340626;ENST00000360409;ENST00000540178;ENST00000540841;ENST00000355117;ENST00000450507;ENST00000417189;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	T;T;T;T;T;T;T;T;T;T	0.38887	1.9;1.9;1.9;1.9;1.11;1.9;1.9;1.9;1.9;1.9	5.37	5.37	0.77165	CUB (5);	0.000000	0.85682	D	0.000000	T	0.77116	0.4083	H	0.96269	3.795	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.85008	0.0904	10	0.87932	D	0	-12.6744	19.1206	0.93362	0.0:0.0:1.0:0.0	.	29;29;29;29;29;29	O60462-2;O60462-3;O60462;O60462-4;O60462-5;E9PF66	.;.;NRP2_HUMAN;.;.;.	R	29	ENSP00000353582:G29R;ENSP00000439658:G29R;ENSP00000439261:G29R;ENSP00000347238:G29R;ENSP00000404279:G29R;ENSP00000387519:G29R;ENSP00000349632:G29R;ENSP00000350432:G29R;ENSP00000407626:G29R;ENSP00000272849:G29R	ENSP00000272849:G29R	G	+	1	0	NRP2	206270524	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	7.628000	0.83189	2.497000	0.84241	0.655000	0.94253	GGA		0.512	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			143	316	0	0	0	1	0	143	316				
CD248	57124	broad.mit.edu	37	11	66084240	66084240	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr11:66084240G>T	ENST00000311330.3	-	1	275	c.259C>A	c.(259-261)Ctg>Atg	p.L87M	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	87	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				anatomical structure regression (GO:0060033)|cell migration (GO:0016477)|lymph node development (GO:0048535)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|extracellular matrix binding (GO:0050840)	p.L87M(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						TGCCGCTGCAGCCCGATCCAC	0.731																																						ENST00000311330.3																			1	Substitution - Missense(1)	p.L87M(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						c.(259-261)Ctg>Atg		CD248 molecule, endosialin	Cefalotin(DB00456)						13.0	14.0	13.0					11																	66084240		1835	3713	5548	SO:0001583	missense	57124					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	g.chr11:66084240G>T	AF279142	CCDS8134.1	11q13	2006-04-12	2006-03-28	2005-02-11	ENSG00000174807	ENSG00000174807		"""CD molecules"""	18219	protein-coding gene	gene with protein product	"""endosialin"", ""tumor endothelial marker 1"""	606064	"""CD164 sialomucin-like 1"", ""CD248 antigen, endosialin"""	CD164L1		10947988, 11084048	Standard	NM_020404		Approved	TEM1	uc001ohm.1	Q9HCU0	OTTHUMG00000167073	ENST00000311330.3:c.259C>A	11.37:g.66084240G>T	ENSP00000308117:p.Leu87Met					RP11-867G23.13_ENST00000534065.1_RNA	p.L87M	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN			1	275	-			87			C-type lectin.		Q2M2V5|Q3SX55|Q96KB6	Missense_Mutation	SNP	ENST00000311330.3	37	c.259C>A	CCDS8134.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.320393	0.60634	.	.	ENSG00000174807	ENST00000311330	T	0.28255	1.62	4.05	2.14	0.27477	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.56097	D	0.000024	T	0.53867	0.1823	M	0.85373	2.75	0.38215	D	0.940583	D	0.89917	1.0	D	0.91635	0.999	T	0.57545	-0.7793	10	0.87932	D	0	-9.4322	7.5709	0.27907	0.2228:0.0:0.7772:0.0	.	87	Q9HCU0	CD248_HUMAN	M	87	ENSP00000308117:L87M	ENSP00000308117:L87M	L	-	1	2	CD248	65840816	0.998000	0.40836	0.999000	0.59377	0.990000	0.78478	2.509000	0.45459	0.350000	0.24002	-0.224000	0.12420	CTG		0.731	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392922.2	NM_020404		7	21	1	0	0.00198382	1	0.00203743	7	21				
FAM72B	653820	broad.mit.edu	37	1	120846050	120846050	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr1:120846050T>A	ENST00000369390.3	+	3	1115	c.286T>A	c.(286-288)Tgc>Agc	p.C96S	FAM72B_ENST00000355228.4_Missense_Mutation_p.C56S|FAM72B_ENST00000471903.2_3'UTR	NM_001100910.1	NP_001094380.1	Q86X60	FA72B_HUMAN	family with sequence similarity 72, member B	96										large_intestine(1)|lung(2)	3	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)		TCTTCCTTCCTGCAACAACGG	0.388																																						ENST00000369390.3																			0				large_intestine(1)|lung(2)	3						c.(286-288)Tgc>Agc		family with sequence similarity 72, member B							407.0	369.0	380.0					1																	120846050		1878	4116	5994	SO:0001583	missense	653820							g.chr1:120846050T>A	AL357493	CCDS72848.1	1p12	2014-05-06			ENSG00000188610	ENSG00000188610			24805	protein-coding gene	gene with protein product		614711					Standard	NM_001100910		Approved	RP11-439A17.6	uc009whp.3	Q86X60	OTTHUMG00000185025	ENST00000369390.3:c.286T>A	1.37:g.120846050T>A	ENSP00000358397:p.Cys96Ser					FAM72B_ENST00000471903.2_3'UTR|FAM72B_ENST00000355228.4_Missense_Mutation_p.C56S	p.C96S	NM_001100910.1	NP_001094380.1	Q86X60	FA72B_HUMAN		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)	3	1115	+	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)	96					B2RPQ5|Q5QP15	Missense_Mutation	SNP	ENST00000369390.3	37	c.286T>A	CCDS41374.1	.	.	.	.	.	.	.	.	.	.	T	14.45	2.537846	0.45176	.	.	ENSG00000188610	ENST00000369392;ENST00000369390;ENST00000452190;ENST00000355228	T;T;T	0.52526	0.66;0.66;0.66	2.54	2.54	0.30619	.	0.000000	0.85682	U	0.000000	T	0.56746	0.2006	M	0.80183	2.485	0.52099	D	0.999949	D;B	0.76494	0.999;0.208	D;B	0.83275	0.996;0.04	T	0.61282	-0.7094	10	0.62326	D	0.03	.	8.5796	0.33621	0.0:0.0:0.0:1.0	.	96;56	Q86X60;Q86X60-2	FA72B_HUMAN;.	S	67;96;67;56	ENSP00000358397:C96S;ENSP00000392882:C67S;ENSP00000347368:C56S	ENSP00000347368:C56S	C	+	1	0	FAM72B	120647573	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.554000	0.67294	1.173000	0.42796	0.327000	0.21459	TGC		0.388	FAM72B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098437.1			4	328	0	0	0	1	0	4	328				
ITGAE	3682	broad.mit.edu	37	17	3649106	3649106	+	Silent	SNP	G	G	A	rs551577998		TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr17:3649106G>A	ENST00000263087.4	-	18	2369	c.2271C>T	c.(2269-2271)agC>agT	p.S757S		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	757					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GCTGGGATCCGCTGCTCCACT	0.557																																					NSCLC(182;635 2928 8995 38788)	ENST00000263087.4																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(2269-2271)agC>agT		integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)							111.0	86.0	95.0					17																	3649106		2203	4300	6503	SO:0001819	synonymous_variant	3682				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr17:3649106G>A	L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.2271C>T	17.37:g.3649106G>A							p.S757S	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)	18	2369	-			757					Q17RS6|Q9NZU9	Silent	SNP	ENST00000263087.4	37	c.2271C>T	CCDS32531.1																																																																																				0.557	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		38	51	0	0	0	1	0	38	51				
PRDM9	56979	broad.mit.edu	37	5	23527693	23527693	+	Silent	SNP	T	T	C			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr5:23527693T>C	ENST00000296682.3	+	11	2678	c.2496T>C	c.(2494-2496)taT>taC	p.Y832Y		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	832					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.Y832Y(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGAAGCCCTATGTCTGCAGGG	0.587										HNSCC(3;0.000094)																												ENST00000296682.3																			1	Substitution - coding silent(1)	p.Y832Y(1)	endometrium(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(2494-2496)taT>taC		PR domain containing 9							48.0	60.0	56.0					5																	23527693		2166	4285	6451	SO:0001819	synonymous_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23527693T>C	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2496T>C	5.37:g.23527693T>C		HNSCC(3;0.000094)					p.Y832Y	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			11	2678	+			832					B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.2496T>C	CCDS43307.1																																																																																				0.587	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		5	195	0	0	0	1	0	5	195				
STAC2	342667	broad.mit.edu	37	17	37369333	37369333	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr17:37369333A>T	ENST00000333461.5	-	10	1415	c.1046T>A	c.(1045-1047)gTg>gAg	p.V349E		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	349	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						GCCTGGCCTCACCCGTTGCAC	0.602																																						ENST00000333461.5																			0				NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						c.(1045-1047)gTg>gAg		SH3 and cysteine rich domain 2							63.0	64.0	64.0					17																	37369333		2203	4300	6503	SO:0001583	missense	342667				intracellular signal transduction		metal ion binding	g.chr17:37369333A>T	AJ608762	CCDS11335.1	17q21.2	2012-11-19			ENSG00000141750	ENSG00000141750			23990	protein-coding gene	gene with protein product							Standard	NM_198993		Approved	24b2	uc002hrs.3	Q6ZMT1	OTTHUMG00000179039	ENST00000333461.5:c.1046T>A	17.37:g.37369333A>T	ENSP00000327509:p.Val349Glu						p.V349E	NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN			10	1415	-			349			SH3.		Q32MA3	Missense_Mutation	SNP	ENST00000333461.5	37	c.1046T>A	CCDS11335.1	.	.	.	.	.	.	.	.	.	.	a	15.50	2.853190	0.51270	.	.	ENSG00000141750	ENST00000333461	D	0.83335	-1.71	5.15	4.07	0.47477	Src homology-3 domain (4);	0.128315	0.51477	D	0.000088	D	0.89694	0.6789	M	0.76838	2.35	0.53688	D	0.999976	D	0.76494	0.999	D	0.83275	0.996	D	0.89320	0.3639	10	0.87932	D	0	-0.4801	9.9201	0.41459	0.9177:0.0:0.0823:0.0	.	349	Q6ZMT1	STAC2_HUMAN	E	349	ENSP00000327509:V349E	ENSP00000327509:V349E	V	-	2	0	STAC2	34622859	1.000000	0.71417	1.000000	0.80357	0.099000	0.18886	8.119000	0.89579	0.813000	0.34350	-0.464000	0.05259	GTG		0.602	STAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444533.2	NM_198993		4	85	0	0	0	1	0	4	85				
MLC1	23209	broad.mit.edu	37	22	50512646	50512646	+	Splice_Site	SNP	G	G	A	rs568289086		TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr22:50512646G>A	ENST00000311597.5	-	8	1319	c.713C>T	c.(712-714)gCc>gTc	p.A238V	MLC1_ENST00000450140.2_Splice_Site_p.A186V|MLC1_ENST00000535444.1_Splice_Site_p.A159V|MLC1_ENST00000538737.1_Splice_Site_p.A204V|MLC1_ENST00000395876.2_Splice_Site_p.A238V|MLC1_ENST00000431262.2_Splice_Site_p.A208V|MLC1_ENST00000483836.1_5'Flank	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	238					caveolin-mediated endocytosis (GO:0072584)|cellular response to cholesterol (GO:0071397)|ion transport (GO:0006811)|positive regulation of intracellular transport (GO:0032388)|protein oligomerization (GO:0051259)|regulation of response to osmotic stress (GO:0047484)|transport (GO:0006810)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		GTTACTCACGGCCACTAGGAT	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		12751	0.0		0.0	False		,,,				2504	0.001					ENST00000311597.5																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18						c.e8+1		megalencephalic leukoencephalopathy with subcortical cysts 1							78.0	61.0	67.0					22																	50512646		2202	4299	6501	SO:0001630	splice_region_variant	23209					basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity	g.chr22:50512646G>A	D25217	CCDS14083.1	22q13.33	2007-03-20			ENSG00000100427	ENSG00000100427			17082	protein-coding gene	gene with protein product		605908				7584026, 7584028	Standard	XR_430476		Approved	MLC, KIAA0027, LVM, VL	uc003bjg.1	Q15049	OTTHUMG00000150236	ENST00000311597.5:c.714+1C>T	22.37:g.50512646G>A						MLC1_ENST00000431262.2_Splice_Site_p.A208_splice|MLC1_ENST00000538737.1_Splice_Site_p.A204_splice|MLC1_ENST00000395876.2_Splice_Site_p.A238_splice|MLC1_ENST00000450140.2_Splice_Site_p.A186_splice|MLC1_ENST00000535444.1_Splice_Site_p.A159_splice	p.A238_splice	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)	8	1319	-		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)	238					B3KW61|B7Z659|Q5JZ83|Q8TAG4|Q96RP5|Q9UGY8	Splice_Site	SNP	ENST00000311597.5	37	c.714_splice	CCDS14083.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075761	0.76415	.	.	ENSG00000100427	ENST00000395876;ENST00000311597;ENST00000538737;ENST00000431262;ENST00000535444;ENST00000450140;ENST00000442311	D;D;D;D;D;D;D	0.95980	-3.87;-3.87;-3.66;-3.49;-3.62;-3.72;-3.82	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.97222	0.9092	M	0.70275	2.135	0.80722	D	1	D;D;D;D	0.71674	0.998;0.998;0.974;0.998	D;D;P;D	0.80764	0.994;0.994;0.613;0.994	D	0.97787	1.0236	10	0.87932	D	0	-8.8097	15.4479	0.75248	0.0:0.0:1.0:0.0	.	204;208;186;238	F5H1B9;B7Z659;B7Z1X1;Q15049	.;.;.;MLC1_HUMAN	V	238;238;204;208;159;186;208	ENSP00000379216:A238V;ENSP00000310375:A238V;ENSP00000445805:A204V;ENSP00000415877:A208V;ENSP00000438910:A159V;ENSP00000412448:A186V;ENSP00000401385:A208V	ENSP00000310375:A238V	A	-	2	0	MLC1	48854773	1.000000	0.71417	0.976000	0.42696	0.052000	0.14988	8.237000	0.89807	2.431000	0.82371	0.655000	0.94253	GCC		0.622	MLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316979.2	NM_015166	Missense_Mutation	12	16	0	0	0	1	0	12	16				
C4orf19	55286	broad.mit.edu	37	4	37592096	37592096	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr4:37592096G>T	ENST00000284437.6	+	3	597	c.419G>T	c.(418-420)gGg>gTg	p.G140V	C4orf19_ENST00000508175.1_Intron|C4orf19_ENST00000381980.4_Missense_Mutation_p.G140V|RP11-36B15.1_ENST00000503034.1_RNA	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	140										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						CTGGAAGGAGGGGGCACCAGG	0.577																																						ENST00000284437.6																			0				large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						c.(418-420)gGg>gTg		chromosome 4 open reading frame 19							74.0	75.0	75.0					4																	37592096		2203	4300	6503	SO:0001583	missense	55286							g.chr4:37592096G>T	BC037906	CCDS3442.1	4p14	2008-02-05			ENSG00000154274	ENSG00000154274			25618	protein-coding gene	gene with protein product						12477932	Standard	NM_001104629		Approved	FLJ11017	uc003gsw.4	Q8IY42	OTTHUMG00000128580	ENST00000284437.6:c.419G>T	4.37:g.37592096G>T	ENSP00000284437:p.Gly140Val					C4orf19_ENST00000508175.1_Intron|C4orf19_ENST00000381980.4_Missense_Mutation_p.G140V	p.G140V	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN			3	597	+			140					Q9NV03	Missense_Mutation	SNP	ENST00000284437.6	37	c.419G>T	CCDS3442.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.516733	0.44763	.	.	ENSG00000154274	ENST00000381980;ENST00000284437	T;T	0.33438	1.41;1.41	5.24	0.904	0.19302	.	0.715362	0.13056	N	0.417282	T	0.28797	0.0714	L	0.47716	1.5	0.09310	N	0.999998	P	0.41188	0.741	P	0.45343	0.477	T	0.13282	-1.0515	10	0.46703	T	0.11	-4.7763	5.1444	0.14977	0.3632:0.1388:0.498:0.0	.	140	Q8IY42	CD019_HUMAN	V	140	ENSP00000371408:G140V;ENSP00000284437:G140V	ENSP00000284437:G140V	G	+	2	0	C4orf19	37268491	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.057000	0.11768	0.017000	0.15025	0.655000	0.94253	GGG		0.577	C4orf19-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250432.1	NM_018302		3	88	1	0	0.014758	1	0.014758	3	88				
EPX	8288	broad.mit.edu	37	17	56274484	56274484	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr17:56274484C>T	ENST00000225371.5	+	7	1096	c.986C>T	c.(985-987)aCc>aTc	p.T329I		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	329					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	CGCAACCGGACCAACTACCTG	0.622																																						ENST00000225371.5																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						c.(985-987)aCc>aTc		eosinophil peroxidase							114.0	108.0	110.0					17																	56274484		2203	4300	6503	SO:0001583	missense	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56274484C>T	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.986C>T	17.37:g.56274484C>T	ENSP00000225371:p.Thr329Ile						p.T329I	NM_000502.4	NP_000493.1	P11678	PERE_HUMAN			7	1096	+			329					Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	37	c.986C>T	CCDS11602.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.244859	0.39697	.	.	ENSG00000121053	ENST00000225371	T	0.73897	-0.79	4.86	4.86	0.63082	.	0.207707	0.51477	D	0.000086	D	0.83746	0.5321	M	0.68952	2.095	0.44685	D	0.997676	D	0.61697	0.99	D	0.65140	0.932	D	0.85825	0.1388	10	0.87932	D	0	-44.2663	15.8515	0.78934	0.0:1.0:0.0:0.0	.	329	P11678	PERE_HUMAN	I	329	ENSP00000225371:T329I	ENSP00000225371:T329I	T	+	2	0	EPX	53629483	0.395000	0.25254	0.996000	0.52242	0.059000	0.15707	1.995000	0.40767	2.408000	0.81797	0.462000	0.41574	ACC		0.622	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502		51	87	0	0	0	1	0	51	87				
KCNG1	3755	broad.mit.edu	37	20	49626294	49626294	+	Silent	SNP	G	G	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr20:49626294G>A	ENST00000371571.4	-	2	867	c.582C>T	c.(580-582)cgC>cgT	p.R194R	KCNG1_ENST00000506387.1_5'Flank|RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000396017.3_Silent_p.R194R	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	194					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CCTCGCTGTCGCGGCCCTCGC	0.716																																						ENST00000371571.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(580-582)cgC>cgT		potassium voltage-gated channel, subfamily G, member 1							18.0	20.0	19.0					20																	49626294		2199	4282	6481	SO:0001819	synonymous_variant	3755					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:49626294G>A	AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.582C>T	20.37:g.49626294G>A						KCNG1_ENST00000396017.3_Silent_p.R194R|RP5-955M13.4_ENST00000424566.1_RNA	p.R194R	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN			2	867	-			194					A8K3S4|O43528|Q5JXL5|Q9BRC1	Silent	SNP	ENST00000371571.4	37	c.582C>T	CCDS13436.1																																																																																				0.716	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079726.4	NM_002237		3	34	0	0	0	1	0	3	34				
ZNF761	388561	broad.mit.edu	37	19	53958879	53958879	+	RNA	SNP	A	A	G	rs543658141		TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr19:53958879A>G	ENST00000454407.1	+	0	1571							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ACATGCCATCATAGACTTCAT	0.428													N|||	1	0.000199681	0.0	0.0	5008	,	,		23718	0.0		0.0	False		,,,				2504	0.001					ENST00000454407.1																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761							165.0	164.0	164.0					19																	53958879		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53958879A>G	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53958879A>G										Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	1571	+								Q6ZNB9	RNA	SNP	ENST00000454407.1	37																																																																																						0.428	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		5	215	0	0	0	1	0	5	215				
LAIR1	3903	broad.mit.edu	37	19	54872628	54872628	+	Missense_Mutation	SNP	G	G	A	rs371498223		TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr19:54872628G>A	ENST00000391742.2	-	3	411	c.259C>T	c.(259-261)Cgc>Tgc	p.R87C	LAIR1_ENST00000474878.1_Missense_Mutation_p.R86C|LAIR1_ENST00000391743.3_Missense_Mutation_p.R69C|LAIR1_ENST00000434277.2_Missense_Mutation_p.R86C|LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000313038.6_Missense_Mutation_p.R80C|LAIR1_ENST00000348231.4_Missense_Mutation_p.R87C			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	87	Ig-like C2-type.				immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		GAGTCAATGCGGAATCTGGCC	0.493																																						ENST00000391743.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26						c.(205-207)Cgc>Tgc		leukocyte-associated immunoglobulin-like receptor 1		G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	200.0	188.0	192.0		259,259	-4.5	0.0	19		192	1,8599		0,1,4299	no	missense,missense	LAIR1	NM_002287.3,NM_021706.2	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	87/288,87/271	54872628	1,13005	2203	4300	6503	SO:0001583	missense	3903					integral to membrane|plasma membrane	protein binding|receptor activity	g.chr19:54872628G>A	AF013249	CCDS12891.1, CCDS12892.1, CCDS74448.1, CCDS74449.1, CCDS74450.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167613	ENSG00000167613		"""Leukocyte-associated Ig like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6477	protein-coding gene	gene with protein product		602992	"""leukocyte-associated Ig-like receptor 1"""			9285412	Standard	XM_005258924		Approved	CD305	uc002qfk.1	Q6GTX8	OTTHUMG00000065545	ENST00000391742.2:c.259C>T	19.37:g.54872628G>A	ENSP00000375622:p.Arg87Cys					LAIR1_ENST00000434277.2_Missense_Mutation_p.R86C|LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000348231.4_Missense_Mutation_p.R87C|LAIR1_ENST00000313038.6_Missense_Mutation_p.R80C|LAIR1_ENST00000391742.2_Missense_Mutation_p.R87C|LAIR1_ENST00000474878.1_Missense_Mutation_p.R86C	p.R69C			Q6GTX8	LAIR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0573)	2	485	-	Ovarian(34;0.19)		87			Ig-like C2-type.			Missense_Mutation	SNP	ENST00000391742.2	37	c.205C>T	CCDS12891.1	.	.	.	.	.	.	.	.	.	.	.	13.26	2.183415	0.38609	0.0	1.16E-4	ENSG00000167613	ENST00000391743;ENST00000391742;ENST00000434277;ENST00000348231;ENST00000313038;ENST00000474878;ENST00000438193	T;T;T;T;T;T;T	0.12147	2.71;2.71;2.71;2.71;2.71;2.71;5.73	2.92	-4.47	0.03525	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	3.150370	0.01046	N	0.004395	T	0.27489	0.0675	L	0.55481	1.735	0.09310	N	1	D;D;D;D;D;D	0.89917	0.998;1.0;0.999;0.997;0.991;1.0	D;D;D;D;P;D	0.67725	0.921;0.953;0.922;0.953;0.57;0.953	T	0.44802	-0.9304	10	0.72032	D	0.01	.	5.6323	0.17518	0.2099:0.4646:0.3255:0.0	.	87;69;86;86;87;87	Q6GTX8-4;A8MZ84;Q6GTX8-3;D3YTC8;Q6GTX8-2;Q6GTX8	.;.;.;.;.;LAIR1_HUMAN	C	69;87;86;87;80;86;81	ENSP00000375623:R69C;ENSP00000375622:R87C;ENSP00000391003:R86C;ENSP00000301193:R87C;ENSP00000319204:R80C;ENSP00000418998:R86C;ENSP00000392058:R81C	ENSP00000319204:R80C	R	-	1	0	LAIR1	59564440	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-1.375000	0.02563	-0.728000	0.04882	0.580000	0.79431	CGC		0.493	LAIR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140506.1			77	154	0	0	0	1	0	77	154				
FAM13A	10144	broad.mit.edu	37	4	89671667	89671667	+	Silent	SNP	G	G	C			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr4:89671667G>C	ENST00000264344.5	-	15	2055	c.1848C>G	c.(1846-1848)ctC>ctG	p.L616L	FAM13A_ENST00000395002.2_Silent_p.L290L|FAM13A_ENST00000503556.1_Silent_p.L276L|FAM13A_ENST00000511976.1_Silent_p.L202L|FAM13A_ENST00000513837.1_Silent_p.L262L|FAM13A_ENST00000508369.1_Silent_p.L290L	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	616					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						ACCGAGGAGAGAGCATGGGGT	0.577																																						ENST00000264344.5																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						c.(1846-1848)ctC>ctG		family with sequence similarity 13, member A							113.0	110.0	111.0					4																	89671667		2203	4300	6503	SO:0001819	synonymous_variant	10144				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr4:89671667G>C	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.1848C>G	4.37:g.89671667G>C						FAM13A_ENST00000513837.1_Silent_p.L262L|FAM13A_ENST00000508369.1_Silent_p.L290L|FAM13A_ENST00000395002.2_Silent_p.L290L|FAM13A_ENST00000511976.1_Silent_p.L202L|FAM13A_ENST00000503556.1_Silent_p.L276L	p.L616L	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN			15	2055	-			616					B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Silent	SNP	ENST00000264344.5	37	c.1848C>G	CCDS34029.1																																																																																				0.577	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1			31	51	0	0	0	1	0	31	51				
DUS2	54920	broad.mit.edu	37	16	68104843	68104843	+	Splice_Site	SNP	C	C	T	rs563502920		TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr16:68104843C>T	ENST00000565263.1	+	12	1136	c.642C>T	c.(640-642)aaC>aaT	p.N214N	DUS2_ENST00000432752.1_Splice_Site_p.N179N|DUS2_ENST00000358896.6_Splice_Site_p.N214N	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN	dihydrouridine synthase 2	214					negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	double-stranded RNA binding (GO:0003725)|flavin adenine dinucleotide binding (GO:0050660)|protein kinase inhibitor activity (GO:0004860)|tRNA dihydrouridine synthase activity (GO:0017150)										TGCTTTTTAGCGGAGGATCTC	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		19120	0.0		0.001	False		,,,				2504	0.0					ENST00000565263.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						c.e12-1									71.0	66.0	67.0					16																	68104843		2198	4300	6498	SO:0001630	splice_region_variant	0				tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr16:68104843C>T		CCDS10859.1, CCDS61970.1	16q22.1	2013-07-23	2013-07-23	2013-07-23	ENSG00000167264	ENSG00000167264			26014	protein-coding gene	gene with protein product	"""SMM1 homolog (S. cerevisiae)"""	609707	"""dihydrouridine synthase 2-like (SMM1, S. cerevisiae)"", ""dihydrouridine synthase 2-like, SMM1 homolog (S. cerevisiae)"", ""dihydrouridine synthase 2-like"""	DUS2L		15994936, 22741570	Standard	NM_017803		Approved	FLJ20399, SMM1	uc002evj.4	Q9NX74	OTTHUMG00000137538	ENST00000565263.1:c.642-1C>T	16.37:g.68104843C>T						DUS2L_ENST00000432752.1_Splice_Site_p.N179_splice|DUS2L_ENST00000358896.6_Splice_Site_p.N214_splice	p.N214_splice	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)	12	1136	+		Ovarian(137;0.192)	214					A8K3G3|Q4H4D9	Splice_Site	SNP	ENST00000565263.1	37	c.641_splice	CCDS10859.1																																																																																				0.507	DUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268869.2	NM_017803	Silent	17	41	0	0	0	1	0	17	41				
OBSCN	84033	broad.mit.edu	37	1	228452055	228452055	+	Silent	SNP	C	C	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr1:228452055C>T	ENST00000422127.1	+	16	4868	c.4824C>T	c.(4822-4824)gcC>gcT	p.A1608A	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000570156.2_Silent_p.A1792A|OBSCN_ENST00000284548.11_Silent_p.A1608A|OBSCN_ENST00000359599.6_Silent_p.A264A|OBSCN_ENST00000366707.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1608	Ig-like 16.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCTGCAAGGCCGGGGATCAGC	0.657																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(5374-5376)gcC>gcT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							34.0	44.0	41.0					1																	228452055		2129	4234	6363	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228452055C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.4824C>T	1.37:g.228452055C>T						OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Silent_p.A264A|OBSCN_ENST00000284548.11_Silent_p.A1608A|OBSCN_ENST00000422127.1_Silent_p.A1608A	p.A1792A	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			18	5450	+		Prostate(94;0.0405)	780		R -> H (in a colorectal cancer sample; somatic mutation).	Fibronectin type-III 2.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.5376C>T	CCDS58065.1																																																																																				0.657	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		4	50	0	0	0	1	0	4	50				
IGHG4	3503	broad.mit.edu	37	14	106090832	106090832	+	RNA	SNP	G	G	C			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr14:106090832G>C	ENST00000390543.2	-	0	964							P01861	IGHG4_HUMAN	immunoglobulin heavy constant gamma 4 (G4m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										CAGAGACAGGGAGAGGCTCTT	0.612																																						ENST00000390543.2																			0																				84.0	127.0	113.0					14																	106090832		1942	4156	6098			0							g.chr14:106090832G>C	K01316		14q32.33	2012-10-02			ENSG00000211892	ENSG00000211892		"""Immunoglobulins / IGH locus"""	5528	other	immunoglobulin gene		147130					Standard	NG_001019		Approved			P01861	OTTHUMG00000152481		14.37:g.106090832G>C														0	964	-									RNA	SNP	ENST00000390543.2	37																																																																																						0.612	IGHG4-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326390.1	NG_001019		29	59	0	0	0	1	0	29	59				
PTPRC	5788	broad.mit.edu	37	1	198719701	198719701	+	Silent	SNP	C	C	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr1:198719701C>T	ENST00000367376.2	+	29	3318	c.3147C>T	c.(3145-3147)ttC>ttT	p.F1049F	PTPRC_ENST00000348564.6_Silent_p.F890F|PTPRC_ENST00000352140.3_Silent_p.F1001F|PTPRC_ENST00000594404.1_Silent_p.F888F|PTPRC_ENST00000442510.2_Silent_p.F1051F	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1049	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AGATGATCTTCCAAAGAAAAG	0.393																																						ENST00000367376.2																			0				breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						c.(3145-3147)ttC>ttT		protein tyrosine phosphatase, receptor type, C							147.0	144.0	145.0					1																	198719701		2203	4300	6503	SO:0001819	synonymous_variant	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198719701C>T	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.3147C>T	1.37:g.198719701C>T						PTPRC_ENST00000594404.1_Silent_p.F888F|PTPRC_ENST00000352140.3_Silent_p.F1001F|PTPRC_ENST00000348564.6_Silent_p.F890F|PTPRC_ENST00000442510.2_Silent_p.F1051F	p.F1049F	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN			29	3318	+			1049			Tyrosine-protein phosphatase 2.		A8K7W6|Q16614|Q9H0Y6	Silent	SNP	ENST00000367376.2	37	c.3147C>T																																																																																					0.393	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				13	83	0	0	0	1	0	13	83				
SLC2A9	56606	broad.mit.edu	37	4	9982304	9982304	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr4:9982304C>T	ENST00000264784.3	-	5	646	c.593G>A	c.(592-594)cGt>cAt	p.R198H	SLC2A9_ENST00000506583.1_Missense_Mutation_p.R169H|SLC2A9_ENST00000309065.3_Missense_Mutation_p.R169H	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	198			R -> C (in RHUC2; markedly reduced urate transport activity). {ECO:0000269|PubMed:19026395}.		glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	CAGAGAGCCACGGATCTCCTT	0.572																																						ENST00000506583.1																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						c.(505-507)cGt>cAt		solute carrier family 2 (facilitated glucose transporter), member 9							68.0	62.0	64.0					4																	9982304		2203	4300	6503	SO:0001583	missense	56606				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	g.chr4:9982304C>T	AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"""Solute carriers"""	13446	protein-coding gene	gene with protein product	"""urate voltage-driven efflux transporter 1"""	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.593G>A	4.37:g.9982304C>T	ENSP00000264784:p.Arg198His					SLC2A9_ENST00000264784.3_Missense_Mutation_p.R198H|SLC2A9_ENST00000309065.3_Missense_Mutation_p.R169H	p.R169H			Q9NRM0	GTR9_HUMAN			7	723	-			198					Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Missense_Mutation	SNP	ENST00000264784.3	37	c.506G>A	CCDS3407.1	.	.	.	.	.	.	.	.	.	.	C	32	5.140778	0.94560	.	.	ENSG00000109667	ENST00000506583;ENST00000264784;ENST00000309065;ENST00000513129	D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61	4.77	4.77	0.60923	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.071616	0.52532	D	0.000075	D	0.92264	0.7546	M	0.90252	3.1	0.45216	D	0.998222	D;D	0.89917	1.0;1.0	D;D	0.76575	0.972;0.988	D	0.93650	0.6972	9	.	.	.	.	15.3103	0.74026	0.0:1.0:0.0:0.0	.	169;198	Q9NRM0-2;Q9NRM0	.;GTR9_HUMAN	H	169;198;169;169	ENSP00000422209:R169H;ENSP00000264784:R198H;ENSP00000311383:R169H;ENSP00000426800:R169H	.	R	-	2	0	SLC2A9	9591402	1.000000	0.71417	0.973000	0.42090	0.949000	0.60115	7.142000	0.77339	2.182000	0.69389	0.650000	0.86243	CGT		0.572	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1			4	44	0	0	0	1	0	4	44				
ZNF385D	79750	broad.mit.edu	37	3	21606147	21606147	+	Missense_Mutation	SNP	G	G	T	rs370927931		TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr3:21606147G>T	ENST00000281523.2	-	3	713	c.195C>A	c.(193-195)aaC>aaA	p.N65K	ZNF385D-AS1_ENST00000412369.1_RNA|ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	65						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CGAATGTATGGTTTATTACAG	0.348																																						ENST00000281523.2																			0				NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						c.(193-195)aaC>aaA		zinc finger protein 385D		G	LYS/ASN	1,4405	2.1+/-5.4	0,1,2202	138.0	136.0	137.0		195	2.2	1.0	3		137	0,8600		0,0,4300	no	missense	ZNF385D	NM_024697.2	94	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	probably-damaging	65/396	21606147	1,13005	2203	4300	6503	SO:0001583	missense	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21606147G>T	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.195C>A	3.37:g.21606147G>T	ENSP00000281523:p.Asn65Lys					ZNF385D-AS1_ENST00000412369.1_RNA|ZNF385D_ENST00000494118.1_5'UTR	p.N65K	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN			3	713	-			65						Missense_Mutation	SNP	ENST00000281523.2	37	c.195C>A	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985898	0.74589	2.27E-4	0.0	ENSG00000151789	ENST00000281523	T	0.39997	1.05	5.94	2.18	0.27775	.	0.046814	0.85682	D	0.000000	T	0.54464	0.1860	L	0.54323	1.7	0.37094	D	0.899571	D	0.71674	0.998	D	0.78314	0.991	T	0.58451	-0.7634	10	0.52906	T	0.07	-7.9282	9.8349	0.40963	0.7963:0.0:0.2037:0.0	.	65	Q9H6B1	Z385D_HUMAN	K	65	ENSP00000281523:N65K	ENSP00000281523:N65K	N	-	3	2	ZNF385D	21581151	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.745000	0.38278	0.486000	0.27676	-0.367000	0.07326	AAC		0.348	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		26	65	1	0	3.03874e-20	1	3.34702e-20	26	65				
SNRPN	6638	broad.mit.edu	37	15	25221557	25221557	+	Silent	SNP	C	C	A	rs200650114	byFrequency	TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr15:25221557C>A	ENST00000400100.1	+	9	1151	c.261C>A	c.(259-261)ccC>ccA	p.P87P	SNRPN_ENST00000346403.6_Silent_p.P87P|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000400098.1_Silent_p.P87P|SNRPN_ENST00000577565.1_Silent_p.P87P|SNRPN_ENST00000554227.2_Silent_p.P91P|SNRPN_ENST00000400097.1_Silent_p.P87P|SNRPN_ENST00000390687.4_Silent_p.P87P|SNURF_ENST00000551312.2_Intron|SNRPN_ENST00000444203.2_Silent_p.P91P	NM_022807.2	NP_073718.1	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	87					response to hormone (GO:0009725)|RNA splicing (GO:0008380)	small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U2 snRNP (GO:0005686)	RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		GGCCACCCCCCAAAGATGTAA	0.488									Prader-Willi syndrome																													ENST00000444203.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24						c.(271-273)ccC>ccA		small nuclear ribonucleoprotein polypeptide N							67.0	72.0	71.0					15																	25221557		1924	4132	6056	SO:0001819	synonymous_variant	6638	Prader-Willi syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding	g.chr15:25221557C>A	L80005	CCDS10017.1	15q11.2	2013-07-16			ENSG00000128739	ENSG00000128739			11164	protein-coding gene	gene with protein product	"""tissue-specific splicing protein"", ""SM protein N"", ""small nuclear ribonucleoprotein N"""	182279	"""Prader-Willi syndrome chromosome region"""	PWCR		1533223	Standard	NM_022805		Approved	SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI	uc001ywt.1	P63162	OTTHUMG00000129180	ENST00000400100.1:c.261C>A	15.37:g.25221557C>A						SNRPN_ENST00000554227.2_Silent_p.P91P|SNRPN_ENST00000577565.1_Silent_p.P87P|SNRPN_ENST00000400097.1_Silent_p.P87P|SNRPN_ENST00000390687.4_Silent_p.P87P|SNRPN_ENST00000346403.6_Silent_p.P87P|SNRPN_ENST00000400098.1_Silent_p.P87P|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000400100.1_Silent_p.P87P	p.P91P			P63162	RSMN_HUMAN		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)	4	1312	+		all_cancers(20;9.33e-22)|Breast(32;0.000625)	87					B3KVR1|P14648|P17135|Q0D2Q5	Silent	SNP	ENST00000400100.1	37	c.273C>A	CCDS10017.1																																																																																				0.488	SNRPN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413849.10	NM_003097		23	27	1	0	1.10923e-09	1	1.18735e-09	23	27				
AKAP8	10270	broad.mit.edu	37	19	15471682	15471682	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr19:15471682C>T	ENST00000269701.2	-	12	1564	c.1504G>A	c.(1504-1506)Gtg>Atg	p.V502M		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	502					mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						TTGTGGTCCACGGAGTGCAGG	0.607																																					GBM(190;1671 2163 3274 27186 30476)	ENST00000269701.2																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						c.(1504-1506)Gtg>Atg		A kinase (PRKA) anchor protein 8							80.0	61.0	68.0					19																	15471682		2203	4300	6503	SO:0001583	missense	10270				signal transduction	nuclear matrix		g.chr19:15471682C>T	Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"""A-kinase anchor proteins"""	378	protein-coding gene	gene with protein product	"""A-kinase anchor protein, 95kDa"""	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.1504G>A	19.37:g.15471682C>T	ENSP00000269701:p.Val502Met						p.V502M	NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN			12	1564	-			502						Missense_Mutation	SNP	ENST00000269701.2	37	c.1504G>A	CCDS12329.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.775505	0.31411	.	.	ENSG00000105127	ENST00000269701	T	0.42900	0.96	5.73	3.53	0.40419	.	1.201320	0.06219	N	0.686501	T	0.37461	0.1004	N	0.02539	-0.55	0.09310	N	0.999998	D	0.71674	0.998	D	0.65773	0.938	T	0.48658	-0.9016	10	0.25751	T	0.34	-10.5632	10.0797	0.42381	0.1353:0.5503:0.3144:0.0	.	502	O43823	AKAP8_HUMAN	M	502	ENSP00000269701:V502M	ENSP00000269701:V502M	V	-	1	0	AKAP8	15332682	0.340000	0.24792	0.001000	0.08648	0.657000	0.38888	1.799000	0.38824	0.706000	0.31912	0.655000	0.94253	GTG		0.607	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461293.3	NM_005858		9	22	0	0	0	1	0	9	22				
ZNF219	51222	broad.mit.edu	37	14	21559179	21559179	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr14:21559179G>A	ENST00000360947.3	-	5	2096	c.1685C>T	c.(1684-1686)cCg>cTg	p.P562L	RP11-998D10.7_ENST00000554733.2_lincRNA|ZNF219_ENST00000451119.2_Missense_Mutation_p.P562L|ZNF219_ENST00000556101.1_5'Flank|ZNF219_ENST00000421093.2_Missense_Mutation_p.P562L	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	562					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurotransmitter levels (GO:0001505)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histamine receptor activity (GO:0004969)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CGGTGGCTCCGGGGGTGGCCC	0.736																																						ENST00000360947.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8						c.(1684-1686)cCg>cTg		zinc finger protein 219							3.0	4.0	4.0					14																	21559179		1918	3832	5750	SO:0001583	missense	0				negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21559179G>A	AB015427	CCDS9568.1	14q11	2013-01-08			ENSG00000165804	ENSG00000165804		"""Zinc fingers, C2H2-type"""	13011	protein-coding gene	gene with protein product		605036				10819330	Standard	NM_016423		Approved		uc001vzs.2	Q9P2Y4	OTTHUMG00000029647	ENST00000360947.3:c.1685C>T	14.37:g.21559179G>A	ENSP00000354206:p.Pro562Leu					RP11-998D10.7_ENST00000554733.2_lincRNA|ZNF219_ENST00000421093.2_Missense_Mutation_p.P562L|ZNF219_ENST00000451119.2_Missense_Mutation_p.P562L	p.P562L	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)	5	2096	-	all_cancers(95;0.00185)		562					D3DS16|Q53Y57|Q8IYC1|Q9BW28	Missense_Mutation	SNP	ENST00000360947.3	37	c.1685C>T	CCDS9568.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.838594	0.51057	.	.	ENSG00000165804	ENST00000360947;ENST00000451119;ENST00000421093	T;T;T	0.08896	3.04;3.04;3.04	4.96	4.01	0.46588	.	0.382752	0.26847	N	0.022189	T	0.04634	0.0126	N	0.24115	0.695	0.50039	D	0.999846	P	0.40107	0.703	B	0.26614	0.071	T	0.51332	-0.8719	10	0.30078	T	0.28	-15.5633	11.7954	0.52098	0.0:0.0:0.8239:0.1761	.	562	Q9P2Y4	ZN219_HUMAN	L	562	ENSP00000354206:P562L;ENSP00000388558:P562L;ENSP00000392401:P562L	ENSP00000354206:P562L	P	-	2	0	ZNF219	20629019	0.977000	0.34250	0.951000	0.38953	0.851000	0.48451	1.837000	0.39201	2.306000	0.77630	0.561000	0.74099	CCG		0.736	ZNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073931.2			7	6	0	0	0	1	0	7	6				
PRX	57716	broad.mit.edu	37	19	40902612	40902612	+	Silent	SNP	C	C	G	rs202113722		TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr19:40902612C>G	ENST00000324001.7	-	7	1917	c.1647G>C	c.(1645-1647)ccG>ccC	p.P549P	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	549	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P549P(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGACACTTTCGGCAGCTGTA	0.577																																						ENST00000324001.7																			1	Substitution - coding silent(1)	p.P549P(1)	ovary(1)	breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(1645-1647)ccG>ccC		periaxin							89.0	102.0	97.0					19																	40902612		2202	4297	6499	SO:0001819	synonymous_variant	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40902612C>G	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.1647G>C	19.37:g.40902612C>G						PRX_ENST00000291825.7_3'UTR	p.P549P	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	1917	-			549			55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].		Q9BXL9|Q9HCF2	Silent	SNP	ENST00000324001.7	37	c.1647G>C	CCDS33028.1																																																																																				0.577	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		3	186	0	0	0	1	0	3	186				
C9orf84	158401	broad.mit.edu	37	9	114468873	114468873	+	Silent	SNP	C	C	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr9:114468873C>A	ENST00000318737.4	-	18	2648	c.2520G>T	c.(2518-2520)gtG>gtT	p.V840V	C9orf84_ENST00000394777.4_Silent_p.V766V|C9orf84_ENST00000374287.3_Silent_p.V840V|C9orf84_ENST00000394779.3_Silent_p.V801V	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	840										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CTGGAAGAATCACTTTAAAGG	0.299																																						ENST00000394779.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(2401-2403)gtG>gtT		chromosome 9 open reading frame 84							104.0	114.0	110.0					9																	114468873		2203	4299	6502	SO:0001819	synonymous_variant	158401							g.chr9:114468873C>A	AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.2520G>T	9.37:g.114468873C>A						C9orf84_ENST00000374287.3_Silent_p.V840V|C9orf84_ENST00000394777.4_Silent_p.V766V|C9orf84_ENST00000318737.4_Silent_p.V840V	p.V801V	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN			16	2647	-			840					A2A2V3|Q2M1H8|Q96M73	Silent	SNP	ENST00000318737.4	37	c.2403G>T	CCDS6781.3																																																																																				0.299	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521		39	71	1	0	6.68952e-21	1	7.47652e-21	39	71				
VWA8	23078	broad.mit.edu	37	13	42259307	42259307	+	Silent	SNP	G	G	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr13:42259307G>A	ENST00000379310.3	-	35	4271	c.4203C>T	c.(4201-4203)ttC>ttT	p.F1401F		NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1401						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										TTCCTCTATAGAATGATGTAT	0.393																																						ENST00000379310.3																			0											c.(4201-4203)ttC>ttT		von Willebrand factor A domain containing 8							159.0	141.0	147.0					13																	42259307		1845	4088	5933	SO:0001819	synonymous_variant	23078							g.chr13:42259307G>A	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.4203C>T	13.37:g.42259307G>A							p.F1401F	NM_015058.1	NP_055873.1					35	4271	-								O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Silent	SNP	ENST00000379310.3	37	c.4203C>T	CCDS41881.1																																																																																				0.393	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		7	28	0	0	0	1	0	7	28				
VCAN	1462	broad.mit.edu	37	5	82849251	82849251	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr5:82849251C>T	ENST00000265077.3	+	11	10127	c.9562C>T	c.(9562-9564)Cgc>Tgc	p.R3188C	VCAN_ENST00000343200.5_Missense_Mutation_p.R2201C|VCAN_ENST00000502527.2_Missense_Mutation_p.R447C|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Missense_Mutation_p.R1434C|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Missense_Mutation_p.R1386C	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3188	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TGCCCATCGACGCACATGGGA	0.483																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(9562-9564)Cgc>Tgc		versican							156.0	135.0	142.0					5																	82849251		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82849251C>T	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.9562C>T	5.37:g.82849251C>T	ENSP00000265077:p.Arg3188Cys					VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Missense_Mutation_p.R1434C|VCAN_ENST00000343200.5_Missense_Mutation_p.R2201C|VCAN-AS1_ENST00000512090.1_RNA|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000512590.2_Missense_Mutation_p.R1386C|VCAN_ENST00000502527.2_Missense_Mutation_p.R447C	p.R3188C	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	11	10127	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	3188			C-type lectin.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.9562C>T	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.821375	0.90873	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000502527	T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12	6.06	5.16	0.70880	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.64402	D	0.000014	T	0.52058	0.1711	M	0.84846	2.72	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.966;0.994;1.0	T	0.56860	-0.7909	10	0.87932	D	0	.	16.7717	0.85539	0.1296:0.8704:0.0:0.0	.	1434;447;2201;3188	P13611-3;P13611-4;P13611-2;P13611	.;.;.;CSPG2_HUMAN	C	3188;2201;1434;1386;447	ENSP00000265077:R3188C;ENSP00000340062:R2201C;ENSP00000342768:R1434C;ENSP00000425959:R1386C;ENSP00000421362:R447C	ENSP00000265077:R3188C	R	+	1	0	VCAN	82885007	0.994000	0.37717	0.998000	0.56505	0.996000	0.88848	3.213000	0.51153	2.882000	0.98803	0.655000	0.94253	CGC		0.483	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		31	174	0	0	0	1	0	31	174				
ARSK	153642	broad.mit.edu	37	5	94927205	94927205	+	Silent	SNP	T	T	C			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr5:94927205T>C	ENST00000380009.4	+	6	1177	c.972T>C	c.(970-972)ttT>ttC	p.F324F		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	324					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		ATCGACAGTTTTATAAAATGA	0.413																																						ENST00000380009.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16						c.(970-972)ttT>ttC		arylsulfatase family, member K							205.0	211.0	209.0					5																	94927205		2203	4300	6503	SO:0001819	synonymous_variant	153642					extracellular region	arylsulfatase activity|metal ion binding	g.chr5:94927205T>C		CCDS4073.1	5q15	2013-02-14	2006-03-07		ENSG00000164291	ENSG00000164291		"""Arylsulfatase family"""	25239	protein-coding gene	gene with protein product		610011	"""arylsulfatase K"""			12975309, 16174644	Standard	NM_198150		Approved	DKFZp313G1735, TSULF	uc003kld.3	Q6UWY0	OTTHUMG00000121166	ENST00000380009.4:c.972T>C	5.37:g.94927205T>C							p.F324F	NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN		all cancers(79;6.5e-16)	6	1177	+		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)	324					A2BDE3|B4E1I4|Q3ZCW3|Q8N3Q8	Silent	SNP	ENST00000380009.4	37	c.972T>C	CCDS4073.1																																																																																				0.413	ARSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241652.2	NM_198150		3	191	0	0	0	1	0	3	191				
ST8SIA4	7903	broad.mit.edu	37	5	100231395	100231395	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr5:100231395C>G	ENST00000231461.5	-	2	518	c.208G>C	c.(208-210)Ggt>Cgt	p.G70R	ST8SIA4_ENST00000451528.2_Missense_Mutation_p.G70R	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	70					axon guidance (GO:0007411)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		ATTTTCCAACCTTCTACATTG	0.388																																						ENST00000231461.5																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(208-210)Ggt>Cgt		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4							122.0	117.0	119.0					5																	100231395		2203	4299	6502	SO:0001583	missense	7903				axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr5:100231395C>G	L41680	CCDS4091.1, CCDS47252.1	5q21	2013-03-01	2003-01-14	2005-02-07	ENSG00000113532	ENSG00000113532		"""Sialyltransferases"""	10871	protein-coding gene	gene with protein product	"""ST8Sia IV"""	602547	"""sialyltransferase 8 (alpha-2, 8-polysialytransferase) D"""	SIAT8D		7624364	Standard	NM_005668		Approved	PST, PST1	uc003knk.3	Q92187	OTTHUMG00000128727	ENST00000231461.5:c.208G>C	5.37:g.100231395C>G	ENSP00000231461:p.Gly70Arg					ST8SIA4_ENST00000451528.2_Missense_Mutation_p.G70R	p.G70R	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN		COAD - Colon adenocarcinoma(37;0.00402)	2	518	-		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)	70					A8KA07|G3V104|Q8N1F4|Q92693	Missense_Mutation	SNP	ENST00000231461.5	37	c.208G>C	CCDS4091.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.280283	0.59758	.	.	ENSG00000113532	ENST00000231461;ENST00000451528	T;T	0.31510	2.27;1.49	5.95	5.95	0.96441	.	0.079395	0.53938	D	0.000046	T	0.26448	0.0646	L	0.29908	0.895	0.58432	D	0.999999	B	0.32968	0.392	B	0.31191	0.125	T	0.02042	-1.1224	10	0.32370	T	0.25	.	19.3629	0.94448	0.0:1.0:0.0:0.0	.	70	Q92187	SIA8D_HUMAN	R	70	ENSP00000231461:G70R;ENSP00000428914:G70R	ENSP00000231461:G70R	G	-	1	0	ST8SIA4	100259294	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.005000	0.57075	2.817000	0.96982	0.563000	0.77884	GGT		0.388	ST8SIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250632.3	NM_005668		17	42	0	0	0	1	0	17	42				
USP9X	8239	broad.mit.edu	37	X	40999970	40999970	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chrX:40999970A>G	ENST00000324545.8	+	7	1349	c.716A>G	c.(715-717)gAt>gGt	p.D239G	USP9X_ENST00000378308.2_Missense_Mutation_p.D239G	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	239					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						ATTTTGCATGATCGTTTTATT	0.328																																					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.(715-717)gAt>gGt		ubiquitin specific peptidase 9, X-linked							108.0	96.0	100.0					X																	40999970		2203	4300	6503	SO:0001583	missense	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:40999970A>G	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.716A>G	X.37:g.40999970A>G	ENSP00000316357:p.Asp239Gly					USP9X_ENST00000378308.2_Missense_Mutation_p.D239G	p.D239G	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			7	1349	+			239					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.716A>G	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	A	15.79	2.937498	0.52972	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.03065	4.06;4.06	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.05273	0.0140	L	0.43152	1.355	0.80722	D	1	B;B	0.18310	0.027;0.016	B;B	0.15484	0.013;0.006	T	0.42032	-0.9475	10	0.30078	T	0.28	.	15.4917	0.75611	1.0:0.0:0.0:0.0	.	239;239	Q93008-1;Q93008	.;USP9X_HUMAN	G	239	ENSP00000367558:D239G;ENSP00000316357:D239G	ENSP00000316357:D239G	D	+	2	0	USP9X	40884914	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.962000	0.93254	2.043000	0.60533	0.481000	0.45027	GAT		0.328	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		5	31	0	0	0	1	0	5	31				
EXTL1	2134	broad.mit.edu	37	1	26349783	26349783	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr1:26349783C>T	ENST00000374280.3	+	1	1513	c.646C>T	c.(646-648)Cgg>Tgg	p.R216W	EXTL1_ENST00000484339.1_3'UTR	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	216					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCCAGCTGCGGCAACACAG	0.697																																						ENST00000374280.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23						c.(646-648)Cgg>Tgg		exostosin-like glycosyltransferase 1							12.0	13.0	13.0					1																	26349783		2197	4296	6493	SO:0001583	missense	2134				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	g.chr1:26349783C>T	U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"""Exostosin glycosyltransferase family"""	3515	protein-coding gene	gene with protein product	"""glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""alpha-N-acetylglucosaminyltransferase II"", ""glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase"", ""exostosin-L"""	601738	"""exostoses (multiple)-like 1"""			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.646C>T	1.37:g.26349783C>T	ENSP00000363398:p.Arg216Trp					EXTL1_ENST00000484339.1_3'UTR	p.R216W	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)	1	1513	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	216					Q6GSC1	Missense_Mutation	SNP	ENST00000374280.3	37	c.646C>T	CCDS271.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.706422	0.68615	.	.	ENSG00000158008	ENST00000374280	D	0.97598	-4.45	5.38	4.44	0.53790	.	0.770595	0.11987	N	0.510213	D	0.97126	0.9061	L	0.46157	1.445	0.25303	N	0.989269	D	0.76494	0.999	P	0.61658	0.892	D	0.91986	0.5599	10	0.72032	D	0.01	-7.3382	12.0374	0.53433	0.1258:0.7383:0.1359:0.0	.	216	Q92935	EXTL1_HUMAN	W	216	ENSP00000363398:R216W	ENSP00000363398:R216W	R	+	1	2	EXTL1	26222370	0.000000	0.05858	0.984000	0.44739	0.989000	0.77384	-0.454000	0.06770	2.802000	0.96397	0.655000	0.94253	CGG		0.697	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455		4	20	0	0	0	1	0	4	20				
CMYA5	202333	broad.mit.edu	37	5	79028525	79028525	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr5:79028525C>T	ENST00000446378.2	+	2	3968	c.3937C>T	c.(3937-3939)Cct>Tct	p.P1313S		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1313					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AACAACTACACCTATAGTGCT	0.378																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(3937-3939)Cct>Tct		cardiomyopathy associated 5							56.0	55.0	55.0					5																	79028525		1893	4108	6001	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79028525C>T	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.3937C>T	5.37:g.79028525C>T	ENSP00000394770:p.Pro1313Ser						p.P1313S	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	3968	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	1313					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.3937C>T	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	C	3.097	-0.185682	0.06340	.	.	ENSG00000164309	ENST00000446378	T	0.59364	0.27	5.76	1.93	0.25924	.	1.140400	0.06581	N	0.750355	T	0.42944	0.1225	N	0.17674	0.51	0.09310	N	1	B	0.19445	0.036	B	0.18263	0.021	T	0.33292	-0.9874	10	0.46703	T	0.11	.	7.9172	0.29825	0.0:0.5686:0.0:0.4314	.	1313	Q8N3K9	CMYA5_HUMAN	S	1313	ENSP00000394770:P1313S	ENSP00000394770:P1313S	P	+	1	0	CMYA5	79064281	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	-0.658000	0.05329	0.062000	0.16340	-0.140000	0.14226	CCT		0.378	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		4	11	0	0	0	1	0	4	11				
ACOXL	55289	broad.mit.edu	37	2	111562876	111562876	+	Silent	SNP	G	G	A	rs139248421		TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr2:111562876G>A	ENST00000389811.4	+	9	881	c.657G>A	c.(655-657)tcG>tcA	p.S219S	ACOXL_ENST00000439055.1_Silent_p.S219S|ACOXL_ENST00000340561.4_Silent_p.S219S			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	219				S -> L (in Ref. 3; AAH22268). {ECO:0000305}.	fatty acid beta-oxidation (GO:0006635)	peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)	p.S219S(1)		kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						AGTACCATTCGCCTATTAGGA	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		20797	0.0		0.001	False		,,,				2504	0.0					ENST00000389811.4																			1	Substitution - coding silent(1)	p.S219S(1)	large_intestine(1)	kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						c.(655-657)tcG>tcA		acyl-CoA oxidase-like		G		2,4404	4.2+/-10.8	0,2,2201	152.0	137.0	142.0		657	-8.6	0.0	2	dbSNP_134	142	15,8585	11.2+/-40.8	0,15,4285	no	coding-synonymous	ACOXL	NM_001142807.1		0,17,6486	AA,AG,GG		0.1744,0.0454,0.1307		219/581	111562876	17,12989	2203	4300	6503	SO:0001819	synonymous_variant	55289				fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity	g.chr2:111562876G>A		CCDS46389.1	2q13	2010-06-30	2010-04-30		ENSG00000153093	ENSG00000153093			25621	protein-coding gene	gene with protein product			"""acyl-Coenzyme A oxidase-like"""				Standard	NM_001142807		Approved	FLJ11042	uc010yxk.1	Q9NUZ1	OTTHUMG00000131257	ENST00000389811.4:c.657G>A	2.37:g.111562876G>A						ACOXL_ENST00000340561.4_Silent_p.S219S|ACOXL_ENST00000439055.1_Silent_p.S219S	p.S219S			Q9NUZ1	ACOXL_HUMAN			9	881	+			219	S -> L (in Ref. 3; AAH22268).				A2RRB7|B7WPB3|B7WPP7|E9PB20|Q53R27|Q53R31|Q53SC6|Q8TCE7	Silent	SNP	ENST00000389811.4	37	c.657G>A																																																																																					0.493	ACOXL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000254024.2	NM_018308		3	88	0	0	0	1	0	3	88				
DNHD1	144132	broad.mit.edu	37	11	6592175	6592175	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr11:6592175G>A	ENST00000527990.2	+	40	13433	c.13433G>A	c.(13432-13434)cGg>cAg	p.R4478Q	DNHD1_ENST00000254579.6_Missense_Mutation_p.R4478Q			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4478					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)	p.R4478Q(1)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCAAATGCACGGCGGCCTCTG	0.612																																						ENST00000254579.6																			1	Substitution - Missense(1)	p.R4478Q(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55						c.(13432-13434)cGg>cAg		dynein heavy chain domain 1							44.0	51.0	48.0					11																	6592175		2045	4174	6219	SO:0001583	missense	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6592175G>A	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.13433G>A	11.37:g.6592175G>A	ENSP00000436180:p.Arg4478Gln					DNHD1_ENST00000527990.2_Missense_Mutation_p.R4478Q	p.R4478Q	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	42	13997	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	4478					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	c.13433G>A	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	G	11.11	1.542933	0.27563	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000530197	T;T	0.08720	3.06;3.06	4.48	-4.67	0.03319	Dynein heavy chain (1);	1.410220	0.04375	N	0.359794	T	0.05273	0.0140	L	0.41236	1.265	0.09310	N	1	B;B;B	0.17465	0.022;0.022;0.022	B;B;B	0.13407	0.004;0.004;0.009	T	0.40590	-0.9555	10	0.13108	T	0.6	-0.4014	0.1984	0.00142	0.2954:0.2692:0.1814:0.2541	.	3566;531;4478	B0I1S4;Q9NSW8;Q96M86	.;.;DNHD1_HUMAN	Q	4478;4478;746	ENSP00000254579:R4478Q;ENSP00000436180:R4478Q	ENSP00000254579:R4478Q	R	+	2	0	DNHD1	6548751	0.000000	0.05858	0.000000	0.03702	0.142000	0.21351	-1.945000	0.01537	-0.659000	0.05359	0.563000	0.77884	CGG		0.612	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		17	41	0	0	0	1	0	17	41				
ARAP1	116985	broad.mit.edu	37	11	72420926	72420926	+	Silent	SNP	G	G	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr11:72420926G>A	ENST00000393609.3	-	11	1714	c.1512C>T	c.(1510-1512)taC>taT	p.Y504Y	ARAP1_ENST00000429686.1_Silent_p.Y259Y|ARAP1_ENST00000455638.2_Silent_p.Y504Y|ARAP1_ENST00000334211.8_Silent_p.Y259Y|ARAP1_ENST00000393605.3_Silent_p.Y264Y|ARAP1_ENST00000426523.1_Silent_p.Y259Y|ARAP1_ENST00000359373.5_Silent_p.Y504Y	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	504	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TGAAGATGCGGTAGGGCGTGG	0.577																																					Ovarian(102;1198 1520 13195 17913 37529)	ENST00000359373.5																			0				cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						c.(1510-1512)taC>taT		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1							263.0	187.0	213.0					11																	72420926		2200	4293	6493	SO:0001819	synonymous_variant	116985				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72420926G>A	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.1512C>T	11.37:g.72420926G>A						ARAP1_ENST00000455638.2_Silent_p.Y504Y|ARAP1_ENST00000429686.1_Silent_p.Y259Y|ARAP1_ENST00000426523.1_Silent_p.Y259Y|ARAP1_ENST00000393605.3_Silent_p.Y264Y|ARAP1_ENST00000393609.3_Silent_p.Y504Y|ARAP1_ENST00000334211.8_Silent_p.Y259Y	p.Y504Y			Q96P48	ARAP1_HUMAN			11	2363	-			504			PH 2.		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Silent	SNP	ENST00000393609.3	37	c.1512C>T	CCDS41687.1																																																																																				0.577	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		4	174	0	0	0	1	0	4	174				
C17orf70	80233	broad.mit.edu	37	17	79514376	79514376	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr17:79514376G>A	ENST00000327787.8	-	5	1778	c.1732C>T	c.(1732-1734)Cgg>Tgg	p.R578W	C17orf70_ENST00000425898.2_Missense_Mutation_p.R227W|C17orf70_ENST00000537152.1_Missense_Mutation_p.R427W			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	578					DNA repair (GO:0006281)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GTCACCTCCCGCCGAGCACCG	0.682																																						ENST00000537152.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19						c.(1279-1281)Cgg>Tgg		chromosome 17 open reading frame 70							38.0	38.0	38.0					17																	79514376		2202	4291	6493	SO:0001583	missense	80233				DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding	g.chr17:79514376G>A	BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"""Fanconi anemia-associated protein, 100kDa"""	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.1732C>T	17.37:g.79514376G>A	ENSP00000333283:p.Arg578Trp					C17orf70_ENST00000327787.8_Missense_Mutation_p.R578W|C17orf70_ENST00000425898.2_Missense_Mutation_p.R227W	p.R427W	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)		5	1804	-	all_neural(118;0.0878)|Melanoma(429;0.242)		578					A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Missense_Mutation	SNP	ENST00000327787.8	37	c.1279C>T	CCDS32765.2	.	.	.	.	.	.	.	.	.	.	G	13.19	2.163019	0.38217	.	.	ENSG00000185504	ENST00000327787;ENST00000425898;ENST00000537152	T;T;T	0.34667	1.35;1.35;1.35	4.49	2.35	0.29111	.	0.179092	0.33591	N	0.004752	T	0.47893	0.1470	M	0.63428	1.95	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.66196	0.942;0.942	T	0.21861	-1.0233	10	0.66056	D	0.02	.	5.286	0.15702	0.1065:0.0:0.5421:0.3514	.	578;227	Q0VG06;E7EVV8	FP100_HUMAN;.	W	578;227;427	ENSP00000333283:R578W;ENSP00000399674:R227W;ENSP00000440151:R427W	ENSP00000333283:R578W	R	-	1	2	C17orf70	77124829	0.000000	0.05858	0.260000	0.24451	0.204000	0.24138	-0.046000	0.11983	1.119000	0.41883	0.561000	0.74099	CGG		0.682	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396170.1	NM_025161		3	76	0	0	0	1	0	3	76				
KIF16B	55614	broad.mit.edu	37	20	16409611	16409611	+	Silent	SNP	C	C	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr20:16409611C>T	ENST00000354981.2	-	14	1618	c.1461G>A	c.(1459-1461)acG>acA	p.T487T	KIF16B_ENST00000408042.1_Silent_p.T487T|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Silent_p.T487T	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	487	FHA.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TATCTTGCTCCGTGGAAGCAT	0.378																																						ENST00000354981.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(1459-1461)acG>acA		kinesin family member 16B							123.0	109.0	114.0					20																	16409611		2203	4300	6503	SO:0001819	synonymous_variant	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16409611C>T	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.1461G>A	20.37:g.16409611C>T						KIF16B_ENST00000408042.1_Silent_p.T487T|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Silent_p.T487T	p.T487T	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			14	1618	-			487			FHA.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Silent	SNP	ENST00000354981.2	37	c.1461G>A	CCDS13122.1																																																																																				0.378	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		6	91	0	0	0	1	0	6	91				
IFI16	3428	broad.mit.edu	37	1	158988436	158988436	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr1:158988436C>T	ENST00000295809.7	+	5	1222	c.967C>T	c.(967-969)Cat>Tat	p.H323Y	IFI16_ENST00000368131.4_Missense_Mutation_p.H323Y|IFI16_ENST00000448393.2_Missense_Mutation_p.H323Y|IFI16_ENST00000340979.6_Missense_Mutation_p.H323Y|IFI16_ENST00000359709.3_Missense_Mutation_p.H267Y|IFI16_ENST00000368132.3_Missense_Mutation_p.H323Y|IFI16_ENST00000430894.2_Missense_Mutation_p.H271Y			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	323	HIN-200 1. {ECO:0000255|PROSITE- ProRule:PRU00106}.|Interaction with TP53 C-terminus.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					ATTTATGCTACATAAGGTAAG	0.338																																						ENST00000295809.7																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(967-969)Cat>Tat		interferon, gamma-inducible protein 16							72.0	80.0	77.0					1																	158988436		2203	4299	6502	SO:0001583	missense	3428				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	g.chr1:158988436C>T	M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.967C>T	1.37:g.158988436C>T	ENSP00000295809:p.His323Tyr					IFI16_ENST00000340979.6_Missense_Mutation_p.H323Y|IFI16_ENST00000359709.3_Missense_Mutation_p.H267Y|IFI16_ENST00000368131.4_Missense_Mutation_p.H323Y|IFI16_ENST00000368132.3_Missense_Mutation_p.H323Y|IFI16_ENST00000430894.2_Missense_Mutation_p.H271Y|IFI16_ENST00000448393.2_Missense_Mutation_p.H323Y	p.H323Y			Q16666	IF16_HUMAN			5	1222	+	all_hematologic(112;0.0429)		323			HIN-200 1.		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	ENST00000295809.7	37	c.967C>T		.	.	.	.	.	.	.	.	.	.	C	1.674	-0.508216	0.04231	.	.	ENSG00000163565	ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894	T;T;T;T;T	0.13901	2.55;2.55;2.55;2.55;2.55	3.09	-1.63	0.08345	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.05868	0.0153	L	0.54323	1.7	0.09310	N	1	P;P;P	0.46277	0.875;0.849;0.875	B;B;B	0.43867	0.434;0.308;0.434	T	0.30268	-0.9984	8	.	.	.	.	8.7712	0.34733	0.7112:0.2888:0.0:0.0	.	271;323;323	E7EPR3;Q16666-2;Q16666	.;.;IF16_HUMAN	Y	323;323;323;323;271	ENSP00000295809:H323Y;ENSP00000342741:H323Y;ENSP00000357113:H323Y;ENSP00000357114:H323Y;ENSP00000394935:H271Y	.	H	+	1	0	IFI16	157255060	0.000000	0.05858	0.001000	0.08648	0.165000	0.22458	-1.250000	0.02885	-0.034000	0.13713	0.555000	0.69702	CAT		0.338	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531		16	15	0	0	0	1	0	16	15				
ATXN1	6310	broad.mit.edu	37	6	16328224	16328224	+	Silent	SNP	G	G	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr6:16328224G>A	ENST00000244769.4	-	8	1254	c.318C>T	c.(316-318)taC>taT	p.Y106Y	ATXN1_ENST00000436367.1_Silent_p.Y106Y	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	106					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GCGGGGTGGCGTACGCGGCAG	0.637																																						ENST00000244769.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44						c.(316-318)taC>taT		ataxin 1							58.0	61.0	60.0					6																	16328224		2203	4299	6502	SO:0001819	synonymous_variant	6310				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16328224G>A	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.318C>T	6.37:g.16328224G>A						ATXN1_ENST00000436367.1_Silent_p.Y106Y	p.Y106Y	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN			8	1254	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	106					Q17S02|Q9UJG2|Q9Y4J1	Silent	SNP	ENST00000244769.4	37	c.318C>T	CCDS34342.1																																																																																				0.637	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		4	82	0	0	0	1	0	4	82				
PCBP4	57060	broad.mit.edu	37	3	51992215	51992215	+	Silent	SNP	G	G	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr3:51992215G>A	ENST00000461554.1	-	14	1405	c.1074C>T	c.(1072-1074)atC>atT	p.I358I	PCBP4_ENST00000428823.2_Silent_p.I315I|PCBP4_ENST00000471622.1_Intron|PCBP4_ENST00000395014.2_Silent_p.I379I|PCBP4_ENST00000355852.2_Silent_p.I358I|PCBP4_ENST00000484633.1_Silent_p.I315I|PCBP4_ENST00000322099.7_Silent_p.I358I|PCBP4_ENST00000395013.3_Silent_p.I198I	NM_001174100.1	NP_001167571.1	P57723	PCBP4_HUMAN	poly(rC) binding protein 4	358						cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCTTGAGGCCGATGAAGTTGG	0.662																																						ENST00000461554.1																			0				endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8						c.(1072-1074)atC>atT		poly(rC) binding protein 4							84.0	96.0	92.0					3																	51992215		2203	4300	6503	SO:0001819	synonymous_variant	57060					cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding	g.chr3:51992215G>A	AF176330	CCDS2839.1, CCDS2840.1, CCDS2840.2	3p21	2013-07-16	2001-11-28		ENSG00000090097	ENSG00000090097			8652	protein-coding gene	gene with protein product	"""RNA binding protein MCG10"", ""LYST-interacting protein"", ""alphaCP-4 protein"""	608503	"""poly(rC)-binding protein 4"""			10936052	Standard	NM_033008		Approved	MCG10, LIP4	uc003dch.2	P57723	OTTHUMG00000157366	ENST00000461554.1:c.1074C>T	3.37:g.51992215G>A						PCBP4_ENST00000484633.1_Silent_p.I315I|PCBP4_ENST00000428823.2_Silent_p.I315I|PCBP4_ENST00000395013.3_Silent_p.I198I|PCBP4_ENST00000355852.2_Silent_p.I358I|PCBP4_ENST00000322099.7_Silent_p.I358I|PCBP4_ENST00000395014.2_Silent_p.I379I|PCBP4_ENST00000471622.1_Intron	p.I358I	NM_001174100.1	NP_001167571.1	P57723	PCBP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	14	1405	-			358					Q96AH7	Silent	SNP	ENST00000461554.1	37	c.1074C>T	CCDS2839.1	.	.	.	.	.	.	.	.	.	.	G	9.889	1.203701	0.22121	.	.	ENSG00000090097	ENST00000294192	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	T	0.66790	0.2825	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69117	-0.5230	5	0.59425	D	0.04	-15.417	10.9552	0.47354	0.0867:0.0:0.9133:0.0	.	.	.	.	L	357	.	ENSP00000294192:S357L	S	-	2	0	PCBP4	51967255	0.827000	0.29292	1.000000	0.80357	0.993000	0.82548	-0.053000	0.11846	2.403000	0.81681	0.467000	0.42956	TCG		0.662	PCBP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348597.1	NM_020418		3	137	0	0	0	1	0	3	137				
TG	7038	broad.mit.edu	37	8	134026000	134026000	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr8:134026000C>T	ENST00000220616.4	+	37	6593	c.6553C>T	c.(6553-6555)Cgg>Tgg	p.R2185W	TG_ENST00000542445.1_Missense_Mutation_p.R555W|TG_ENST00000522523.1_3'UTR|TG_ENST00000519543.1_Missense_Mutation_p.R318W|TG_ENST00000377869.1_Missense_Mutation_p.R2128W	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2185					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCACATCTACCGGAAGCCAGG	0.517																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(6553-6555)Cgg>Tgg		thyroglobulin							60.0	45.0	50.0					8																	134026000		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134026000C>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.6553C>T	8.37:g.134026000C>T	ENSP00000220616:p.Arg2185Trp					TG_ENST00000522523.1_3'UTR|TG_ENST00000519543.1_Missense_Mutation_p.R318W|TG_ENST00000542445.1_Missense_Mutation_p.R555W|TG_ENST00000377869.1_Missense_Mutation_p.R2128W	p.R2185W	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	37	6593	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	2185					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.6553C>T	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.58|17.58	3.425170|3.425170	0.62733|0.62733	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000519178|ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543	.|T;T;T;T	.|0.70045	.|-0.23;-0.24;-0.45;-0.43	5.07|5.07	4.14|4.14	0.48551|0.48551	.|.	.|0.000000	.|0.56097	.|D	.|0.000022	T|T	0.78773|0.78773	0.4336|0.4336	M|M	0.74881|0.74881	2.28|2.28	0.27970|0.27970	N|N	0.93643|0.93643	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.70935	.|0.958;0.971;0.928	T|T	0.71639|0.71639	-0.4532|-0.4532	5|10	.|0.72032	.|D	.|0.01	.|.	11.3403|11.3403	0.49529|0.49529	0.1809:0.8191:0.0:0.0|0.1809:0.8191:0.0:0.0	.|.	.|318;555;2185	.|E7EVM0;F5GWW5;P01266	.|.;.;THYG_HUMAN	L|W	640|2128;991;2185;555;318	.|ENSP00000367100:R2128W;ENSP00000220616:R2185W;ENSP00000441693:R555W;ENSP00000430430:R318W	.|ENSP00000220616:R2185W	P|R	+|+	2|1	0|2	TG|TG	134095182|134095182	0.969000|0.969000	0.33509|0.33509	1.000000|1.000000	0.80357|0.80357	0.659000|0.659000	0.38960|0.38960	-0.035000|-0.035000	0.12205|0.12205	2.524000|2.524000	0.85096|0.85096	0.561000|0.561000	0.74099|0.74099	CCG|CGG		0.517	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		6	22	0	0	0	1	0	6	22				
MTERF2	80298	broad.mit.edu	37	12	107371603	107371603	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr12:107371603G>A	ENST00000552029.1	-	2	2958	c.890C>T	c.(889-891)cCa>cTa	p.P297L	MTERFD3_ENST00000392830.2_Missense_Mutation_p.P297L|MTERFD3_ENST00000240050.4_Missense_Mutation_p.P297L|C12orf23_ENST00000551237.1_Intron			Q49AM1	MTEF2_HUMAN		297					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	transcription regulatory region DNA binding (GO:0044212)			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						TTCTAAAACTGGAACAGAATA	0.348																																						ENST00000552029.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(889-891)cCa>cTa		MTERF domain containing 3							102.0	109.0	107.0					12																	107371603		2203	4300	6503	SO:0001583	missense	80298				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding	g.chr12:107371603G>A																												ENST00000552029.1:c.890C>T	12.37:g.107371603G>A	ENSP00000447651:p.Pro297Leu					C12orf23_ENST00000551237.1_Intron|MTERFD3_ENST00000240050.4_Missense_Mutation_p.P297L|MTERFD3_ENST00000392830.2_Missense_Mutation_p.P297L	p.P297L			Q49AM1	MTER3_HUMAN			2	2958	-			297					Q53HM2|Q9H4L6|Q9H7Y9	Missense_Mutation	SNP	ENST00000552029.1	37	c.890C>T	CCDS9111.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.650771	0.67472	.	.	ENSG00000120832	ENST00000392830;ENST00000240050;ENST00000552029	T;T;T	0.10960	2.82;2.82;2.82	5.81	4.9	0.64082	.	0.205994	0.51477	D	0.000081	T	0.18383	0.0441	L	0.56769	1.78	0.58432	D	0.999997	P	0.36683	0.565	B	0.43413	0.419	T	0.01500	-1.1339	10	0.32370	T	0.25	-8.0E-4	16.0208	0.80486	0.0:0.0:0.8645:0.1355	.	297	Q49AM1	MTER3_HUMAN	L	297	ENSP00000376575:P297L;ENSP00000240050:P297L;ENSP00000447651:P297L	ENSP00000240050:P297L	P	-	2	0	MTERFD3	105895733	1.000000	0.71417	0.938000	0.37757	0.982000	0.71751	5.374000	0.66167	1.396000	0.46663	0.460000	0.39030	CCA		0.348	MTERFD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406835.1			23	49	0	0	0	1	0	23	49				
CCDC66	285331	broad.mit.edu	37	3	56651182	56651182	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr3:56651182G>A	ENST00000394672.3	+	14	1956	c.1886G>A	c.(1885-1887)tGt>tAt	p.C629Y	CCDC66_ENST00000436465.2_Missense_Mutation_p.C629Y|CCDC66_ENST00000326595.7_Missense_Mutation_p.C595Y	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	629					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		GAATCACATTGTGGATCATTA	0.299																																						ENST00000394672.3																			0				breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12						c.(1885-1887)tGt>tAt		coiled-coil domain containing 66							74.0	68.0	70.0					3																	56651182		2203	4300	6503	SO:0001583	missense	285331							g.chr3:56651182G>A	AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.1886G>A	3.37:g.56651182G>A	ENSP00000378167:p.Cys629Tyr					CCDC66_ENST00000436465.2_Missense_Mutation_p.C629Y|CCDC66_ENST00000326595.7_Missense_Mutation_p.C595Y	p.C629Y	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)	14	1956	+			629					B3KWL8|Q4VC34|Q8N949	Missense_Mutation	SNP	ENST00000394672.3	37	c.1886G>A	CCDS46852.1	.	.	.	.	.	.	.	.	.	.	G	1.599	-0.527136	0.04141	.	.	ENSG00000180376	ENST00000422222;ENST00000394672;ENST00000326595;ENST00000436465	T;T;T;T	0.24350	1.86;1.89;1.89;1.89	5.58	1.42	0.22433	.	0.642824	0.15801	N	0.243967	T	0.17109	0.0411	L	0.35723	1.085	0.09310	N	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.18147	-1.0346	10	0.52906	T	0.07	-0.9718	4.8681	0.13618	0.2667:0.1911:0.5422:0.0	.	629	A2RUB6	CCD66_HUMAN	Y	585;629;595;629	ENSP00000401451:C585Y;ENSP00000378167:C629Y;ENSP00000326050:C595Y;ENSP00000404320:C629Y	ENSP00000326050:C595Y	C	+	2	0	CCDC66	56626222	0.879000	0.30193	0.075000	0.20258	0.004000	0.04260	0.961000	0.29267	0.415000	0.25817	-0.880000	0.02959	TGT		0.299	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506		9	37	0	0	0	1	0	9	37				
TTN	7273	broad.mit.edu	37	2	179516426	179516426	+	Missense_Mutation	SNP	C	C	T	rs374394719	byFrequency	TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr2:179516426C>T	ENST00000591111.1	-	161	35133	c.34909G>A	c.(34909-34911)Gtt>Att	p.V11637I	TTN_ENST00000342992.6_Missense_Mutation_p.V10710I|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V13144I|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11637	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTTGGCAACGACAGCAGGT	0.398													C|||	4	0.000798722	0.003	0.0	5008	,	,		18858	0.0		0.0	False		,,,				2504	0.0					ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(39430-39432)Gtt>Att		titin		C	,,,ILE/VAL	2,3746		0,2,1872	125.0	117.0	120.0		,,,32128	-3.8	0.0	2		120	0,8214		0,0,4107	no	intron,intron,intron,missense	TTN	NM_003319.4,NM_133432.3,NM_133437.3,NM_133378.4	,,,29	0,2,5979	TT,TC,CC		0.0,0.0534,0.0167	,,,benign	,,,10710/33424	179516426	2,11960	1874	4107	5981	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179516426C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34909G>A	2.37:g.179516426C>T	ENSP00000465570:p.Val11637Ile					TTN_ENST00000342992.6_Missense_Mutation_p.V10710I|TTN_ENST00000591111.1_Missense_Mutation_p.V11637I|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA	p.V13144I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		206	39654	-			11497			Ig-like 87.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.39430G>A		.	.	.	.	.	.	.	.	.	.	C	11.52	1.662597	0.29515	5.34E-4	0.0	ENSG00000155657	ENST00000342992	T	0.64260	-0.09	5.13	-3.79	0.04320	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.49115	0.1538	L	0.33485	1.01	0.09310	N	0.999993	B	0.02656	0.0	B	0.01281	0.0	T	0.40720	-0.9548	9	0.87932	D	0	.	13.1812	0.59655	0.0:0.4354:0.0:0.5645	.	11637	Q8WZ42	TITIN_HUMAN	I	10710	ENSP00000343764:V10710I	ENSP00000343764:V10710I	V	-	1	0	TTN	179224671	0.000000	0.05858	0.002000	0.10522	0.904000	0.53231	-3.768000	0.00371	-0.939000	0.03709	0.650000	0.86243	GTT		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	12	0	0	0	1	0	9	12				
PDZK1IP1	10158	broad.mit.edu	37	1	47650744	47650744	+	Missense_Mutation	SNP	C	C	T	rs35912227	byFrequency	TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr1:47650744C>T	ENST00000294338.2	-	3	324	c.202G>A	c.(202-204)Gtc>Atc	p.V68I	PDZK1IP1_ENST00000491793.1_5'UTR|PDZK1IP1_ENST00000371885.1_Missense_Mutation_p.V68I	NM_005764.3	NP_005755.1	Q13113	PDZ1I_HUMAN	PDZK1 interacting protein 1	68						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(1)|lung(1)|prostate(1)	3						TTGTTTCCGACGGTCAGGATC	0.617													C|||	9	0.00179712	0.0	0.0029	5008	,	,		18987	0.0		0.004	False		,,,				2504	0.0031					ENST00000294338.2																			0				endometrium(1)|lung(1)|prostate(1)	3						c.(202-204)Gtc>Atc		PDZK1 interacting protein 1		C	ILE/VAL	3,4403	6.2+/-15.9	0,3,2200	173.0	134.0	147.0		202	-5.9	0.0	1	dbSNP_126	147	14,8586	11.2+/-40.8	0,14,4286	yes	missense	PDZK1IP1	NM_005764.3	29	0,17,6486	TT,TC,CC		0.1628,0.0681,0.1307	benign	68/115	47650744	17,12989	2203	4300	6503	SO:0001583	missense	10158					integral to membrane		g.chr1:47650744C>T	U21049	CCDS546.1	1p33	2008-02-05			ENSG00000162366	ENSG00000162366			16887	protein-coding gene	gene with protein product		607178				9815914, 8701988, 12754212, 12837682	Standard	NM_005764		Approved	DD96, MAP17, SPAP	uc001cqw.3	Q13113	OTTHUMG00000007852	ENST00000294338.2:c.202G>A	1.37:g.47650744C>T	ENSP00000294338:p.Val68Ile					PDZK1IP1_ENST00000491793.1_5'UTR|PDZK1IP1_ENST00000371885.1_Missense_Mutation_p.V68I	p.V68I	NM_005764.3	NP_005755.1	Q13113	PDZ1I_HUMAN			3	324	-			68					Q6ICT9|Q96EI1	Missense_Mutation	SNP	ENST00000294338.2	37	c.202G>A	CCDS546.1	4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	C	0.370	-0.934356	0.02340	6.81E-4	0.001628	ENSG00000162366	ENST00000294338;ENST00000371885	.	.	.	3.51	-5.89	0.02282	.	1.705140	0.04032	N	0.301548	T	0.07188	0.0182	N	0.01576	-0.805	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.31251	-0.9950	9	0.02654	T	1	0.0265	6.9494	0.24536	0.0:0.19:0.1465:0.6635	rs35912227	68	Q13113	PDZ1I_HUMAN	I	68	.	ENSP00000294338:V68I	V	-	1	0	PDZK1IP1	47423331	0.000000	0.05858	0.000000	0.03702	0.085000	0.17905	-2.105000	0.01339	-1.268000	0.02439	-0.369000	0.07265	GTC		0.617	PDZK1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021655.1	NM_005764		3	89	0	0	0	1	0	3	89				
MTBP	27085	broad.mit.edu	37	8	121519023	121519023	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr8:121519023A>T	ENST00000305949.1	+	16	1850	c.1805A>T	c.(1804-1806)gAt>gTt	p.D602V		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	602	Interaction with MDM2. {ECO:0000250}.				cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			ACATTGTTGGATGCTAAAGAA	0.398																																						ENST00000305949.1																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30						c.(1804-1806)gAt>gTt		Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa							92.0	87.0	89.0					8																	121519023		2203	4300	6503	SO:0001583	missense	27085				cell cycle arrest			g.chr8:121519023A>T		CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"""MDM2 (mouse double minute 2)-binding protein, 104kD"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"""			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.1805A>T	8.37:g.121519023A>T	ENSP00000303398:p.Asp602Val						p.D602V	NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		16	1850	+	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		602			Interaction with MDM2 (By similarity).		B4DUR5|Q9HA89	Missense_Mutation	SNP	ENST00000305949.1	37	c.1805A>T	CCDS6333.1	.	.	.	.	.	.	.	.	.	.	A	16.70	3.195118	0.58017	.	.	ENSG00000172167	ENST00000305949	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.79003	0.4373	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81876	-0.0731	9	0.87932	D	0	-24.3127	15.4856	0.75564	1.0:0.0:0.0:0.0	.	602	Q96DY7	MTBP_HUMAN	V	602	.	ENSP00000303398:D602V	D	+	2	0	MTBP	121588204	1.000000	0.71417	1.000000	0.80357	0.144000	0.21451	8.345000	0.90057	2.073000	0.62155	0.460000	0.39030	GAT		0.398	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045		18	56	0	0	0	1	0	18	56				
TMEM102	284114	broad.mit.edu	37	17	7340329	7340329	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr17:7340329C>T	ENST00000323206.1	+	3	1304	c.1031C>T	c.(1030-1032)tCg>tTg	p.S344L	RP11-104H15.10_ENST00000575331.1_RNA|FGF11_ENST00000575235.1_5'Flank|RP11-104H15.9_ENST00000570444.1_RNA|FGF11_ENST00000572907.1_5'Flank|TMEM102_ENST00000396568.1_Missense_Mutation_p.S344L|RP11-104H15.8_ENST00000576615.1_RNA|FGF11_ENST00000293829.4_5'Flank|RP11-104H15.7_ENST00000575310.1_RNA	NM_178518.2	NP_848613.1	Q8N9M5	TM102_HUMAN	transmembrane protein 102	344					apoptotic process (GO:0006915)|positive regulation of cell adhesion (GO:0045785)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell migration (GO:2000406)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|protein complex (GO:0043234)				kidney(1)|lung(3)|skin(1)	5		Prostate(122;0.173)				GCCTCTGAGTCGGCTTCCTTC	0.726																																						ENST00000323206.1																			0				kidney(1)|lung(3)|skin(1)	5						c.(1030-1032)tCg>tTg		transmembrane protein 102							6.0	8.0	7.0					17																	7340329		1721	3555	5276	SO:0001583	missense	284114				regulation of apoptosis|response to cytokine stimulus|signal transduction	cell surface|integral to membrane|intracellular	protein binding	g.chr17:7340329C>T	AK094197	CCDS11104.1	17p13.1	2008-04-21			ENSG00000181284	ENSG00000181284			26722	protein-coding gene	gene with protein product		613936				12477932	Standard	NM_178518		Approved	FLJ36878	uc002ggx.1	Q8N9M5	OTTHUMG00000132901	ENST00000323206.1:c.1031C>T	17.37:g.7340329C>T	ENSP00000315387:p.Ser344Leu					RP11-104H15.7_ENST00000575310.1_RNA|RP11-104H15.9_ENST00000570444.1_RNA|TMEM102_ENST00000396568.1_Missense_Mutation_p.S344L	p.S344L	NM_178518.2	NP_848613.1	Q8N9M5	TM102_HUMAN			3	1304	+		Prostate(122;0.173)	344					D3DTP8	Missense_Mutation	SNP	ENST00000323206.1	37	c.1031C>T	CCDS11104.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.036061	0.54896	.	.	ENSG00000181284	ENST00000323206;ENST00000396568	T;T	0.09445	2.98;2.98	5.18	5.18	0.71444	.	0.167110	0.28841	N	0.013967	T	0.07818	0.0196	N	0.22421	0.69	0.37717	D	0.924783	P	0.40144	0.704	B	0.32677	0.15	T	0.24548	-1.0157	10	0.56958	D	0.05	-18.2653	14.1772	0.65549	0.0:1.0:0.0:0.0	.	344	Q8N9M5	TM102_HUMAN	L	344	ENSP00000315387:S344L;ENSP00000379815:S344L	ENSP00000315387:S344L	S	+	2	0	TMEM102	7281053	0.983000	0.35010	0.439000	0.26833	0.153000	0.21895	2.838000	0.48199	2.412000	0.81896	0.462000	0.41574	TCG		0.726	TMEM102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256405.1	NM_178518		6	6	0	0	0	1	0	6	6				
FAM8A1	51439	broad.mit.edu	37	6	17608511	17608511	+	Nonsense_Mutation	SNP	C	C	T	rs200041366		TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr6:17608511C>T	ENST00000259963.3	+	5	1238	c.1183C>T	c.(1183-1185)Cga>Tga	p.R395*		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	395	RDD.					integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			TCAGCATAATCGAACAGCTTA	0.383																																						ENST00000259963.3																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(1183-1185)Cga>Tga		family with sequence similarity 8, member A1							109.0	104.0	106.0					6																	17608511		2203	4300	6503	SO:0001587	stop_gained	51439					integral to membrane		g.chr6:17608511C>T	AF097027	CCDS4540.1	6p23	2010-11-22			ENSG00000137414	ENSG00000137414			16372	protein-coding gene	gene with protein product						11707071	Standard	NM_016255		Approved	AHCP	uc003ncc.3	Q9UBU6	OTTHUMG00000014309	ENST00000259963.3:c.1183C>T	6.37:g.17608511C>T	ENSP00000259963:p.Arg395*						p.R395*	NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	all cancers(50;0.176)|Epithelial(50;0.204)		5	1238	+	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	395			RDD.		B2R725	Nonsense_Mutation	SNP	ENST00000259963.3	37	c.1183C>T	CCDS4540.1	.	.	.	.	.	.	.	.	.	.	C	36	5.927702	0.97110	.	.	ENSG00000137414	ENST00000542476;ENST00000259963	.	.	.	5.63	4.76	0.60689	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.0172	8.5079	0.33199	0.2528:0.6721:0.0:0.0751	.	.	.	.	X	145;395	.	ENSP00000259963:R395X	R	+	1	2	FAM8A1	17716490	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.235000	0.51328	1.373000	0.46208	0.557000	0.71058	CGA		0.383	FAM8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039950.1			5	76	0	0	0	1	0	5	76				
FKTN	2218	broad.mit.edu	37	9	108397472	108397472	+	Missense_Mutation	SNP	G	G	A	rs139291792		TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr9:108397472G>A	ENST00000223528.2	+	10	1437	c.1313G>A	c.(1312-1314)cGc>cAc	p.R438H	FKTN_ENST00000602661.1_Missense_Mutation_p.R438H|FKTN_ENST00000540160.1_3'UTR|FKTN_ENST00000357998.5_Intron|FKTN_ENST00000448551.2_Intron	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	438					muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|nervous system development (GO:0007399)|regulation of protein glycosylation (GO:0060049)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transferase activity (GO:0016740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						GACTGGAAGCGCTCTCCTCCC	0.453																																						ENST00000223528.2																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						c.(1312-1314)cGc>cAc		fukutin							177.0	158.0	164.0					9																	108397472		2203	4300	6503	SO:0001583	missense	2218				muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity	g.chr9:108397472G>A		CCDS6766.1	9q31-q33	2014-09-17	2007-11-21	2007-11-21	ENSG00000106692	ENSG00000106692			3622	protein-coding gene	gene with protein product		607440	"""Fukuyama type congenital muscular dystrophy (fukutin)"""	FCMD		8275093, 17036286, 17044012	Standard	NM_001079802		Approved	LGMD2M	uc004bcs.3	O75072	OTTHUMG00000020425	ENST00000223528.2:c.1313G>A	9.37:g.108397472G>A	ENSP00000223528:p.Arg438His					FKTN_ENST00000448551.2_Intron|FKTN_ENST00000602661.1_Missense_Mutation_p.R438H|FKTN_ENST00000357998.5_Intron|FKTN_ENST00000540160.1_3'UTR	p.R438H	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN			10	1437	+			438					B4DUX9|J3KP13|Q3MIJ1|Q96TE1|Q9P295	Missense_Mutation	SNP	ENST00000223528.2	37	c.1313G>A	CCDS6766.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.441701	0.43326	.	.	ENSG00000106692	ENST00000223528	T	0.41758	0.99	6.04	0.409	0.16382	.	0.877645	0.10470	N	0.670928	T	0.24699	0.0599	N	0.08118	0	0.80722	D	1	B	0.21071	0.051	B	0.20184	0.028	T	0.05257	-1.0896	10	0.46703	T	0.11	-15.6612	12.5319	0.56120	0.3653:0.0:0.6347:0.0	.	438	O75072	FKTN_HUMAN	H	438	ENSP00000223528:R438H	ENSP00000223528:R438H	R	+	2	0	FKTN	107437293	0.804000	0.28969	0.993000	0.49108	0.866000	0.49608	-0.023000	0.12456	0.107000	0.17824	-0.471000	0.05019	CGC		0.453	FKTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053505.1	NM_006731		31	53	0	0	0	1	0	31	53				
CDH23	64072	broad.mit.edu	37	10	73553231	73553231	+	Silent	SNP	C	C	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr10:73553231C>T	ENST00000224721.6	+	47	6566	c.6561C>T	c.(6559-6561)agC>agT	p.S2187S	CDH23_ENST00000398788.3_5'Flank	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2182	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.			EFLNPIQTVSVLESAEPGTVIANITAIDHDLNPKLEYHIVG IVAKDDTDRLVPNQEDAFAVNIN -> ASWEGQSHVTQAYE EAVGPPQPQVPDSTGDRHPLWGLGGFGQEHPWEGQILGGSS QAEPGLVWS (in Ref. 8; BAB61902). {ECO:0000305}.	calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						AGACAGTGAGCGTGCTGGAGT	0.567																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(6559-6561)agC>agT		cadherin-related 23							68.0	75.0	73.0					10																	73553231		2178	4275	6453	SO:0001819	synonymous_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73553231C>T	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.6561C>T	10.37:g.73553231C>T							p.S2187S	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			47	6566	+			2182	EFLNPIQTVSVLESAEPGTVIANITAIDHDLNPKLEYHIVG IVAKDDTDRLVPNQEDAFAVNIN -> ASWEGQSHVTQAYE EAVGPPQPQVPDSTGDRHPLWGLGGFGQEHPWEGQILGGSS QAEPGLVWS (in Ref. 6; BAB61902).		Cadherin 21.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37	c.6561C>T																																																																																					0.567	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		9	124	0	0	0	1	0	9	124				
FUT2	2524	broad.mit.edu	37	19	49207086	49207086	+	Silent	SNP	C	C	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr19:49207086C>T	ENST00000425340.2	+	2	990	c.873C>T	c.(871-873)ttC>ttT	p.F291F	FUT2_ENST00000391876.4_Silent_p.F291F	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	291					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		TTGGGACGTTCGGGATCTGGG	0.542																																						ENST00000425340.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7						c.(871-873)ttC>ttT		fucosyltransferase 2 (secretor status included)							255.0	207.0	224.0					19																	49207086		2203	4300	6503	SO:0001819	synonymous_variant	2524				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity	g.chr19:49207086C>T		CCDS33069.1	19q13.33	2014-07-19			ENSG00000176920	ENSG00000176920		"""Fucosyltransferases"""	4013	protein-coding gene	gene with protein product	"""alpha (1,2) fucosyltransferase"", ""galactoside 2-alpha-L-fucosyltransferase 2"", ""GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2"", ""alpha(1,2)FT2"", ""secretor factor"", ""secretor blood group alpha-2-fucosyltransferase"""	182100		SE		1763885	Standard	NM_000511		Approved	sej, Se2, SEC2	uc010emc.3	Q10981	OTTHUMG00000164427	ENST00000425340.2:c.873C>T	19.37:g.49207086C>T						FUT2_ENST00000391876.4_Silent_p.F291F	p.F291F	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)	2	990	+		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	291					Q0VAG5|Q14338|Q5D0G2	Silent	SNP	ENST00000425340.2	37	c.873C>T	CCDS33069.1																																																																																				0.542	FUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378731.2	NM_000511		25	184	0	0	0	1	0	25	184				
LTBP1	4052	broad.mit.edu	37	2	33567955	33567955	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr2:33567955G>A	ENST00000404816.2	+	25	4134	c.3781G>A	c.(3781-3783)Gac>Aac	p.D1261N	LTBP1_ENST00000407925.1_Missense_Mutation_p.D935N|LTBP1_ENST00000390003.4_Missense_Mutation_p.D936N|LTBP1_ENST00000402934.1_Missense_Mutation_p.D882N|LTBP1_ENST00000404525.1_Missense_Mutation_p.D882N|LTBP1_ENST00000272273.5_Intron|LTBP1_ENST00000354476.3_Missense_Mutation_p.D1262N|LTBP1_ENST00000418533.2_Intron			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1261	EGF-like 13; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CGGGTTTTGTGACAATACAGC	0.448																																						ENST00000404816.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108						c.(3781-3783)Gac>Aac		latent transforming growth factor beta binding protein 1							150.0	127.0	135.0					2																	33567955		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33567955G>A		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.3781G>A	2.37:g.33567955G>A	ENSP00000386043:p.Asp1261Asn					LTBP1_ENST00000272273.5_Intron|LTBP1_ENST00000407925.1_Missense_Mutation_p.D935N|LTBP1_ENST00000402934.1_Missense_Mutation_p.D882N|LTBP1_ENST00000418533.2_Intron|LTBP1_ENST00000354476.3_Missense_Mutation_p.D1262N|LTBP1_ENST00000404525.1_Missense_Mutation_p.D882N|LTBP1_ENST00000390003.4_Missense_Mutation_p.D936N	p.D1261N			Q14766	LTBP1_HUMAN			25	4134	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	1261			EGF-like 13; calcium-binding (Potential).		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.3781G>A	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	G	33	5.226177	0.95173	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000402934;ENST00000404525;ENST00000407925	D;D;D;D;D;D	0.95447	-3.71;-3.71;-3.71;-3.71;-3.71;-3.71	5.91	5.91	0.95273	.	.	.	.	.	D	0.92280	0.7551	N	0.02721	-0.515	0.80722	D	1	P;P;P;P	0.52061	0.837;0.95;0.95;0.915	P;P;P;P	0.53185	0.642;0.72;0.72;0.72	D	0.93169	0.6564	9	0.40728	T	0.16	.	20.3045	0.98621	0.0:0.0:1.0:0.0	.	882;935;936;1262	Q14766-3;Q14766-2;Q14766-5;Q14766-4	.;.;.;.	N	1261;1262;936;882;882;935	ENSP00000386043:D1261N;ENSP00000346467:D1262N;ENSP00000374653:D936N;ENSP00000384373:D882N;ENSP00000385359:D882N;ENSP00000384091:D935N	ENSP00000346467:D1262N	D	+	1	0	LTBP1	33421459	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.240000	0.78192	2.807000	0.96579	0.557000	0.71058	GAC		0.448	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		5	75	0	0	0	1	0	5	75				
NCKAP5	344148	broad.mit.edu	37	2	133489328	133489328	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr2:133489328G>A	ENST00000409261.1	-	17	5798	c.5425C>T	c.(5425-5427)Ccc>Tcc	p.P1809S	NCKAP5_ENST00000317721.6_Missense_Mutation_p.P1809S|NCKAP5_ENST00000405974.3_Missense_Mutation_p.P490S|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000409213.1_Missense_Mutation_p.P490S	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1809										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GCTGGTTTGGGGAGGCGGCTC	0.512																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(5425-5427)Ccc>Tcc		NCK-associated protein 5							56.0	58.0	57.0					2																	133489328		1931	4136	6067	SO:0001583	missense	344148						protein binding	g.chr2:133489328G>A	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.5425C>T	2.37:g.133489328G>A	ENSP00000387128:p.Pro1809Ser					NCKAP5_ENST00000409213.1_Missense_Mutation_p.P490S|NCKAP5_ENST00000405974.3_Missense_Mutation_p.P490S|NCKAP5_ENST00000317721.6_Missense_Mutation_p.P1809S	p.P1809S	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			17	5798	-			1809					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.5425C>T	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335771	0.81801	.	.	ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661	T;T;T;T	0.58210	2.37;0.35;2.37;0.35	5.43	5.43	0.79202	.	0.000000	0.32134	U	0.006527	T	0.63450	0.2512	L	0.29908	0.895	0.37243	D	0.906192	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.69072	-0.5242	10	0.87932	D	0	.	17.6062	0.88039	0.0:0.0:1.0:0.0	.	490;1809	O14513-2;O14513	.;NCKP5_HUMAN	S	1809;490;1809;490;490	ENSP00000387128:P1809S;ENSP00000386952:P490S;ENSP00000380603:P1809S;ENSP00000385692:P490S	ENSP00000380603:P1809S	P	-	1	0	NCKAP5	133205798	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	5.940000	0.70187	2.827000	0.97445	0.650000	0.86243	CCC		0.512	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		3	32	0	0	0	1	0	3	32				
ADCY4	196883	broad.mit.edu	37	14	24795366	24795366	+	Missense_Mutation	SNP	C	C	T	rs199640938		TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr14:24795366C>T	ENST00000310677.4	-	13	1687	c.1574G>A	c.(1573-1575)cGt>cAt	p.R525H	ADCY4_ENST00000396747.3_Missense_Mutation_p.R218H|ADCY4_ENST00000418030.2_Missense_Mutation_p.R525H|ADCY4_ENST00000554068.2_Missense_Mutation_p.R525H	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	525					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CCGGGGGGTACGGCTCCTGCA	0.592																																						ENST00000310677.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1573-1575)cGt>cAt		adenylate cyclase 4							65.0	62.0	63.0					14																	24795366		2203	4300	6503	SO:0001583	missense	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24795366C>T	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.1574G>A	14.37:g.24795366C>T	ENSP00000312126:p.Arg525His					ADCY4_ENST00000418030.2_Missense_Mutation_p.R525H|ADCY4_ENST00000396747.3_Missense_Mutation_p.R218H|ADCY4_ENST00000554068.2_Missense_Mutation_p.R525H	p.R525H	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	13	1687	-			525					B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	ENST00000310677.4	37	c.1574G>A	CCDS9627.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.30|19.30	3.801497|3.801497	0.70682|0.70682	.|.	.|.	ENSG00000129467|ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030;ENST00000396747|ENST00000556932	T;T;T;T|.	0.77620|.	-1.11;-1.11;-1.11;-1.11|.	4.58|4.58	4.58|4.58	0.56647|0.56647	.|.	0.188295|.	0.26907|.	N|.	0.021898|.	T|T	0.52709|0.52709	0.1751|0.1751	L|L	0.29908|0.29908	0.895|0.895	0.38500|0.38500	D|D	0.948201|0.948201	B|.	0.09022|.	0.002|.	B|.	0.13407|.	0.009|.	T|T	0.52320|0.52320	-0.8591|-0.8591	10|5	0.56958|.	D|.	0.05|.	.|.	12.7327|12.7327	0.57206|0.57206	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	525|.	Q8NFM4|.	ADCY4_HUMAN|.	H|I	525;525;525;218|98	ENSP00000312126:R525H;ENSP00000452250:R525H;ENSP00000393177:R525H;ENSP00000379971:R218H|.	ENSP00000312126:R525H|.	R|V	-|-	2|1	0|0	ADCY4|ADCY4	23865206|23865206	0.999000|0.999000	0.42202|0.42202	0.997000|0.997000	0.53966|0.53966	0.734000|0.734000	0.41952|0.41952	2.412000|2.412000	0.44609|0.44609	2.393000|2.393000	0.81446|0.81446	0.591000|0.591000	0.81541|0.81541	CGT|GTA		0.592	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			3	47	0	0	0	1	0	3	47				
OR2T2	401992	broad.mit.edu	37	1	248616338	248616338	+	Silent	SNP	C	C	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr1:248616338C>T	ENST00000342927.3	+	1	262	c.240C>T	c.(238-240)ccC>ccT	p.P80P		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	80						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(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCACTGTCCCCAAGATGCTCC	0.522																																						ENST00000342927.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37						c.(238-240)ccC>ccT		olfactory receptor, family 2, subfamily T, member 2							135.0	159.0	151.0					1																	248616338		2203	4297	6500	SO:0001819	synonymous_variant	401992				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248616338C>T	BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.240C>T	1.37:g.248616338C>T							p.P80P	NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	262	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		80					B2RNM1|B9EH01	Silent	SNP	ENST00000342927.3	37	c.240C>T	CCDS31116.1																																																																																				0.522	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136		6	174	0	0	0	1	0	6	174				
HOGA1	112817	broad.mit.edu	37	10	99344570	99344570	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr10:99344570G>C	ENST00000370646.4	+	1	471	c.110G>C	c.(109-111)gGt>gCt	p.G37A	PI4K2A_ENST00000370649.3_Missense_Mutation_p.G37A|HOGA1_ENST00000370647.4_Missense_Mutation_p.G37A|PI4K2A_ENST00000555577.1_Missense_Mutation_p.G37A	NM_138413.3	NP_612422.2	Q86XE5	HOGA1_HUMAN	4-hydroxy-2-oxoglutarate aldolase 1	37					4-hydroxyproline catabolic process (GO:0019470)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|oxalate metabolic process (GO:0033609)|pyruvate biosynthetic process (GO:0042866)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	4-hydroxy-2-oxoglutarate aldolase activity (GO:0008700)|protein homodimerization activity (GO:0042803)	p.G37V(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						GACATTGCGGGTATCTACCCC	0.597																																						ENST00000370646.4																			2	Substitution - Missense(2)	p.G37V(2)	prostate(2)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						c.(109-111)gGt>gCt		4-hydroxy-2-oxoglutarate aldolase 1							97.0	101.0	99.0					10																	99344570		2203	4300	6503	SO:0001583	missense	112817							g.chr10:99344570G>C	BC011916	CCDS7467.1, CCDS44469.1	10q24.1	2010-12-19	2010-12-19	2010-12-19	ENSG00000241935	ENSG00000241935			25155	protein-coding gene	gene with protein product	"""dihydrodipicolinate synthetase homolog 2 (E. coli)"", ""N-acetylneuraminate pyruvate lyase 2 (putative)"""	613597	"""chromosome 10 open reading frame 65"", ""dihydrodipicolinate synthase-like, mitochondrial"""	C10orf65, DHDPSL		20797690	Standard	NM_001134670		Approved	FLJ37472, DHDPS2, NPL2		Q86XE5	OTTHUMG00000018859	ENST00000370646.4:c.110G>C	10.37:g.99344570G>C	ENSP00000359680:p.Gly37Ala					PI4K2A_ENST00000370649.3_Missense_Mutation_p.G37A|PI4K2A_ENST00000555577.1_Missense_Mutation_p.G37A|HOGA1_ENST00000370647.4_Missense_Mutation_p.G37A	p.G37A	NM_138413.3	NP_612422.2					1	471	+								A8K075|Q5T680|Q5T684|Q711P0|Q8N9F2|Q96EV5	Missense_Mutation	SNP	ENST00000370646.4	37	c.110G>C	CCDS7467.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.836798	0.50951	.	.	ENSG00000241935;ENSG00000241935;ENSG00000155252;ENSG00000249967	ENST00000370647;ENST00000370646;ENST00000555577;ENST00000370649	D;D;D;D	0.99537	-4.24;-6.11;-3.44;-3.44	4.96	4.96	0.65561	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.99760	0.9903	H	0.95780	3.72	0.58432	D	0.999995	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.97110	0.981;0.998;1.0	D	0.97155	0.9834	10	0.87932	D	0	-23.801	18.0048	0.89207	0.0:0.0:1.0:0.0	.	37;37;37	E9PAM4;Q86XE5-3;Q86XE5	.;.;HOGA1_HUMAN	A	37	ENSP00000359681:G37A;ENSP00000359680:G37A;ENSP00000452243:G37A;ENSP00000359683:G37A	ENSP00000359680:G37A	G	+	2	0	PI4K2A;HOGA1;RP11-548K23.11	99334560	1.000000	0.71417	0.986000	0.45419	0.490000	0.33462	7.078000	0.76821	2.577000	0.86979	0.655000	0.94253	GGT		0.597	HOGA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049726.1	NM_138413		11	123	0	0	0	1	0	11	123				
JUP	3728	broad.mit.edu	37	17	39914695	39914695	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr17:39914695G>A	ENST00000393931.3	-	10	1847	c.1729C>T	c.(1729-1731)Cgc>Tgc	p.R577C	JUP_ENST00000310706.5_Missense_Mutation_p.R577C|JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Missense_Mutation_p.R577C	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	577	Interaction with DSC1.				adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		ATCTCCATGCGGTTCATGGGG	0.617																																					Colon(16;42 520 6044 17852 28530)	ENST00000393931.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23						c.(1729-1731)Cgc>Tgc		junction plakoglobin							88.0	69.0	75.0					17																	39914695		2203	4300	6503	SO:0001583	missense	3728				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr17:39914695G>A	AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"""Armadillo repeat containing"""	6207	protein-coding gene	gene with protein product		173325	"""catenin (cadherin-associated protein), gamma 80kDa"""	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.1729C>T	17.37:g.39914695G>A	ENSP00000377508:p.Arg577Cys					JUP_ENST00000310706.5_Missense_Mutation_p.R577C|JUP_ENST00000393930.1_Missense_Mutation_p.R577C|JUP_ENST00000540235.1_Intron	p.R577C	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	10	1847	-		Breast(137;0.000162)	577					Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Missense_Mutation	SNP	ENST00000393931.3	37	c.1729C>T	CCDS11407.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.394003	0.83011	.	.	ENSG00000173801	ENST00000393930;ENST00000310706;ENST00000393931	T;T;T	0.71817	-0.6;-0.6;-0.6	5.41	4.42	0.53409	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.82185	0.4982	M	0.65677	2.01	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84567	0.0653	10	0.87932	D	0	-33.3945	14.6042	0.68466	0.0:0.0:0.8531:0.1469	.	577	P14923	PLAK_HUMAN	C	577	ENSP00000377507:R577C;ENSP00000311113:R577C;ENSP00000377508:R577C	ENSP00000311113:R577C	R	-	1	0	JUP	37168221	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.534000	0.60622	1.482000	0.48325	0.561000	0.74099	CGC		0.617	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1			4	116	0	0	0	1	0	4	116				
SH3BP5L	80851	broad.mit.edu	37	1	249118997	249118997	+	Silent	SNP	G	G	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr1:249118997G>T	ENST00000366472.5	-	2	1367	c.138C>A	c.(136-138)gcC>gcA	p.A46A	SH3BP5L_ENST00000475978.1_5'UTR|MIR3124_ENST00000582636.1_RNA	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	46										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GGGACAATTTGGCCTCACTGC	0.577																																						ENST00000366472.5																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(136-138)gcC>gcA		SH3-binding domain protein 5-like							192.0	191.0	191.0					1																	249118997		2203	4300	6503	SO:0001819	synonymous_variant	80851							g.chr1:249118997G>T	AB051507	CCDS31126.1	1q44	2008-02-05			ENSG00000175137	ENSG00000175137			29360	protein-coding gene	gene with protein product							Standard	NM_030645		Approved	KIAA1720	uc001iew.1	Q7L8J4	OTTHUMG00000040389	ENST00000366472.5:c.138C>A	1.37:g.249118997G>T						SH3BP5L_ENST00000475978.1_5'UTR	p.A46A	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		2	1367	-	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	46					B4DQ94|Q96FI5|Q9BQH8|Q9C0E3	Silent	SNP	ENST00000366472.5	37	c.138C>A	CCDS31126.1																																																																																				0.577	SH3BP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097140.1	NM_030645		64	131	1	0	8.70598e-44	1	9.87545e-44	64	131				
GNL1	2794	broad.mit.edu	37	6	30520936	30520936	+	Silent	SNP	G	G	T	rs368925664		TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr6:30520936G>T	ENST00000376621.3	-	7	1799	c.829C>A	c.(829-831)Cgg>Agg	p.R277R		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	277	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				cellular response to DNA damage stimulus (GO:0006974)|GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)|signal transduction (GO:0007165)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						CCTCTCCCCCGCCTCCGACTC	0.602																																						ENST00000376621.3																			0				cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						c.(829-831)Cgg>Agg		guanine nucleotide binding protein-like 1							94.0	98.0	97.0					6																	30520936		2203	4300	6503	SO:0001819	synonymous_variant	2794				response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity	g.chr6:30520936G>T		CCDS4680.1	6p21.3	2010-02-17			ENSG00000204590	ENSG00000204590			4413	protein-coding gene	gene with protein product		143024				8180467	Standard	NM_005275		Approved	HSR1	uc003nqh.3	P36915	OTTHUMG00000031137	ENST00000376621.3:c.829C>A	6.37:g.30520936G>T							p.R277R	NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN			7	1799	-			277					B0S838|Q96CT5	Silent	SNP	ENST00000376621.3	37	c.829C>A	CCDS4680.1																																																																																				0.602	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076241.2			7	150	1	0	0.00307968	1	0.00312074	7	150				
ATG13	9776	broad.mit.edu	37	11	46690391	46690391	+	Silent	SNP	C	C	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr11:46690391C>T	ENST00000434074.1	+	15	1967	c.1278C>T	c.(1276-1278)agC>agT	p.S426S	ATG13_ENST00000526508.1_Silent_p.S426S|ATG13_ENST00000530500.1_Silent_p.S310S|ATG13_ENST00000312040.4_Silent_p.S426S|ATG13_ENST00000359513.4_Silent_p.S426S|ATG13_ENST00000529655.1_Silent_p.S389S|ATG13_ENST00000524625.1_Silent_p.S389S|ATG13_ENST00000528494.1_Silent_p.S459S|ATG13_ENST00000451945.1_Silent_p.S389S	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	426					autophagic vacuole assembly (GO:0000045)	ATG1/UKL1 signaling complex (GO:0034273)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)|ULK1-ATG13-FIP200 complex (GO:0070969)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						TCCAGGGCAGCCTGCACTCAG	0.517																																						ENST00000434074.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						c.(1276-1278)agC>agT		autophagy related 13							126.0	113.0	117.0					11																	46690391		2201	4299	6500	SO:0001819	synonymous_variant	9776				autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr11:46690391C>T	AB014552	CCDS7921.1, CCDS44582.1, CCDS55760.1, CCDS55761.1	11p11.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000175224	ENSG00000175224			29091	protein-coding gene	gene with protein product		615088	"""KIAA0652"", ""ATG13 autophagy related 13 homolog (S. cerevisiae)"""	KIAA0652		15169610, 18339812, 17204848	Standard	NM_001205120		Approved		uc001nda.3	O75143	OTTHUMG00000166538	ENST00000434074.1:c.1278C>T	11.37:g.46690391C>T						ATG13_ENST00000528494.1_Silent_p.S459S|ATG13_ENST00000312040.4_Silent_p.S426S|ATG13_ENST00000359513.4_Silent_p.S426S|ATG13_ENST00000526508.1_Silent_p.S426S|ATG13_ENST00000530500.1_Silent_p.S310S|ATG13_ENST00000529655.1_Silent_p.S389S|ATG13_ENST00000524625.1_Silent_p.S389S|ATG13_ENST00000451945.1_Silent_p.S389S	p.S426S	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN			15	1967	+			426					B4DFI4|D3DQQ1|D3DQQ2|E9PQZ8|Q53EN6|Q9BRL3|Q9H8B0	Silent	SNP	ENST00000434074.1	37	c.1278C>T	CCDS44582.1	.	.	.	.	.	.	.	.	.	.	C	10.06	1.245685	0.22796	.	.	ENSG00000175224	ENST00000395549	.	.	.	5.95	4.07	0.47477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8337	0.57761	0.0:0.8668:0.0:0.1332	.	.	.	.	.	-1	.	.	.	+	.	.	ATG13	46646967	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.621000	0.54210	0.831000	0.34780	0.655000	0.94253	.		0.517	ATG13-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390300.2	NM_014741		3	38	0	0	0	1	0	3	38				
FLRT2	23768	broad.mit.edu	37	14	86089672	86089672	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr14:86089672C>A	ENST00000330753.4	+	2	2581	c.1814C>A	c.(1813-1815)aCc>aAc	p.T605N	FLRT2_ENST00000554746.1_Missense_Mutation_p.T605N	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	605					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		ATGACAGAAACCAGTTTTCAG	0.473																																						ENST00000330753.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73						c.(1813-1815)aCc>aAc		fibronectin leucine rich transmembrane protein 2							122.0	130.0	127.0					14																	86089672		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86089672C>A	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1814C>A	14.37:g.86089672C>A	ENSP00000332879:p.Thr605Asn					FLRT2_ENST00000554746.1_Missense_Mutation_p.T605N	p.T605N	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	2581	+			605					A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.1814C>A	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452675	0.63290	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.58060	0.36;0.36	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.50429	0.1615	L	0.53249	1.67	0.80722	D	1	P	0.37015	0.578	B	0.30782	0.12	T	0.48514	-0.9029	10	0.41790	T	0.15	-22.6859	20.8794	0.99867	0.0:1.0:0.0:0.0	.	605	O43155	FLRT2_HUMAN	N	605;605;258	ENSP00000332879:T605N;ENSP00000451050:T605N	ENSP00000332879:T605N	T	+	2	0	FLRT2	85159425	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.919000	0.70005	2.941000	0.99782	0.655000	0.94253	ACC		0.473	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			4	160	1	0	1.23904e-05	1	1.30788e-05	4	160				
MUC3A	4584	broad.mit.edu	37	7	100609803	100609803	+	Splice_Site	SNP	A	A	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr7:100609803A>T	ENST00000319509.7	+	9	2444		c.e9-1		RP11-395B7.2_ENST00000434775.1_RNA|RP11-395B7.2_ENST00000420080.1_RNA			Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated						cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GGCCCCACCTAGGTCCTGGGA	0.692																																						ENST00000319509.7																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						c.e9-1		mucin 3A, cell surface associated							98.0	94.0	95.0					7																	100609803		876	1991	2867	SO:0001630	splice_region_variant	4584							g.chr7:100609803A>T	AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000319509.7:c.2445-1A>T	7.37:g.100609803A>T						RP11-395B7.2_ENST00000420080.1_RNA								9	2444	+								O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	Splice_Site	SNP	ENST00000319509.7	37			.	.	.	.	.	.	.	.	.	.	a	8.335	0.827283	0.16749	.	.	ENSG00000169894	ENST00000319509;ENST00000422757	.	.	.	2.51	1.34	0.21922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.3387	0.11099	0.8313:0.0:0.1687:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MUC3A	100396523	0.915000	0.31059	0.007000	0.13788	0.042000	0.13812	3.709000	0.54853	0.382000	0.24878	-0.473000	0.04963	.		0.692	MUC3A-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347215.1	XM_001725354	Intron	7	91	0	0	0	1	0	7	91				
GAD2	2572	broad.mit.edu	37	10	26506583	26506583	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr10:26506583G>A	ENST00000376261.3	+	2	624	c.121G>A	c.(121-123)Gga>Aga	p.G41R	GAD2_ENST00000259271.3_Missense_Mutation_p.G41R|GAD2_ENST00000376248.1_5'Flank	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	41					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GGGCGGCATCGGAAACAAACT	0.632																																						ENST00000376261.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(121-123)Gga>Aga		glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	L-Glutamic Acid(DB00142)						49.0	41.0	44.0					10																	26506583		2203	4300	6503	SO:0001583	missense	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26506583G>A	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.121G>A	10.37:g.26506583G>A	ENSP00000365437:p.Gly41Arg					GAD2_ENST00000259271.3_Missense_Mutation_p.G41R	p.G41R	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN			2	624	+			41					Q9UD87	Missense_Mutation	SNP	ENST00000376261.3	37	c.121G>A	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874150	0.72180	.	.	ENSG00000136750	ENST00000376261;ENST00000259271;ENST00000428517	T;T;T	0.58060	0.36;0.36;0.36	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.66557	0.2801	M	0.72894	2.215	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.65233	0.929;0.933	T	0.69442	-0.5144	10	0.72032	D	0.01	-17.1906	8.6639	0.34110	0.076:0.0:0.7715:0.1524	.	41;41	Q4G154;Q05329	.;DCE2_HUMAN	R	41	ENSP00000365437:G41R;ENSP00000259271:G41R;ENSP00000390434:G41R	ENSP00000259271:G41R	G	+	1	0	GAD2	26546589	1.000000	0.71417	1.000000	0.80357	0.403000	0.30841	4.882000	0.63121	2.711000	0.92665	0.561000	0.74099	GGA		0.632	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		3	27	0	0	0	1	0	3	27				
BCRP7	100133163	broad.mit.edu	37	22	18844771	18844771	+	3'UTR	SNP	G	G	A			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr22:18844771G>A	ENST00000412938.1	+	0	3021																											TCTGAGGGCAGCAGTGCACGT	0.567																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18844771G>A																												ENST00000412938.1:c.*3018G>A	22.37:g.18844771G>A														0	3021	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.567	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			3	8	0	0	0	1	0	3	8				
ZNF407	55628	broad.mit.edu	37	18	72343683	72343683	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr18:72343683A>T	ENST00000299687.5	+	1	708	c.708A>T	c.(706-708)caA>caT	p.Q236H	ZNF407_ENST00000309902.6_Missense_Mutation_p.Q236H|ZNF407_ENST00000582337.1_Missense_Mutation_p.Q236H|ZNF407_ENST00000577538.1_Missense_Mutation_p.Q236H	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	236					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		ATATCAAACAAGCACATGGGC	0.443																																						ENST00000299687.5																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(706-708)caA>caT		zinc finger protein 407							148.0	151.0	150.0					18																	72343683		2078	4223	6301	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72343683A>T	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.708A>T	18.37:g.72343683A>T	ENSP00000299687:p.Gln236His					ZNF407_ENST00000577538.1_Missense_Mutation_p.Q236H|ZNF407_ENST00000309902.6_Missense_Mutation_p.Q236H|ZNF407_ENST00000582337.1_Missense_Mutation_p.Q236H	p.Q236H	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	708	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	236					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.708A>T	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	A	9.434	1.086268	0.20390	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.15139	2.45;2.45	4.94	-7.44	0.01379	Zinc finger, C2H2-like (1);	0.406062	0.15857	N	0.241213	T	0.08179	0.0204	L	0.41415	1.275	0.09310	N	1	B;B;B	0.14438	0.004;0.01;0.002	B;B;B	0.14578	0.011;0.006;0.002	T	0.31971	-0.9924	10	0.39692	T	0.17	.	1.5931	0.02658	0.4865:0.155:0.0974:0.2611	.	236;236;236	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	H	236	ENSP00000299687:Q236H;ENSP00000310359:Q236H	ENSP00000299687:Q236H	Q	+	3	2	ZNF407	70472671	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.527000	0.06200	0.210000	0.20664	-0.345000	0.07892	CAA		0.443	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		31	76	0	0	0	1	0	31	76				
CHRNB2	1141	broad.mit.edu	37	1	154542011	154542011	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr1:154542011delC	ENST00000368476.3	+	2	402	c.138delC	c.(136-138)atcfs	p.I46fs		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	46					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	ACAAGCTTATCCGCCCAGCCA	0.597																																						ENST00000368476.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28						c.(136-138)atfs		cholinergic receptor, nicotinic, beta 2 (neuronal)	Nicotine(DB00184)						63.0	56.0	58.0					1																	154542011		2203	4300	6503	SO:0001589	frameshift_variant	1141				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr1:154542011delC	U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1962	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 2 (neuronal)"""	118507	"""cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"""			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.138delC	1.37:g.154542011delC	ENSP00000357461:p.Ile46fs						p.I46fs	NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		2	402	+	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		46					Q9UEH9	Frame_Shift_Del	DEL	ENST00000368476.3	37	c.138delC	CCDS1070.1																																																																																				0.597	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090697.1	NM_000748		17	34						17	34	---	---	---	---
LINC01250	101927554	broad.mit.edu	37	2	2910722	2910723	+	lincRNA	INS	-	-	T	rs373675312		TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr2:2910722_2910723insT	ENST00000457478.1	-	0	594																											tccaccccctctccccagccca	0.708																																						ENST00000457478.1																			0																																																			0							g.chr2:2910722_2910723insT																													2.37:g.2910723_2910723dupT														0	594	-									RNA	INS	ENST00000457478.1	37																																																																																						0.708	AC019118.2-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000322597.1			3	4						3	4	---	---	---	---
HLA-F-AS1	285830	broad.mit.edu	37	6	29709414	29709414	+	RNA	DEL	A	A	-	rs147024472		TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr6:29709414delA	ENST00000458236.1	-	0	349									HLA-F antisense RNA 1																		tagtttccccatttcatagat	0.458																																						ENST00000458236.1																			0																																																			0							g.chr6:29709414delA	AK092748		6p22.1	2013-06-03	2012-08-15		ENSG00000214922	ENSG00000214922		"""Long non-coding RNAs"""	26645	non-coding RNA	RNA, long non-coding			"""HLA-F antisense RNA 1 (non-protein coding)"""				Standard	NR_026972		Approved		uc003nnp.2		OTTHUMG00000185970		6.37:g.29709414delA														0	349	-									RNA	DEL	ENST00000458236.1	37																																																																																						0.458	HLA-F-AS1-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000471862.1	NR_026972		4	2						4	2	---	---	---	---
FNBP4	23360	broad.mit.edu	37	11	47744589	47744591	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr11:47744589_47744591delGGA	ENST00000263773.5	-	15	2754_2756	c.2742_2744delTCC	c.(2740-2745)cctcca>cca	p.914_915PP>P		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	914	Pro-rich.					nucleus (GO:0005634)		p.P914P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						tggtggtggtggaggaggaggag	0.458																																						ENST00000263773.5																			1	Substitution - coding silent(1)	p.P914P(1)	endometrium(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						c.(2740-2745)cca>cc		formin binding protein 4				3,75,3660		0,0,3,5,65,1796						-0.3	0.9			14	11,190,7695		0,0,11,2,186,3749	no	codingComplex	FNBP4	NM_015308.2		0,0,14,7,251,5545	A1A1,A1A2,A1R,A2A2,A2R,RR		2.5456,2.0867,2.3981				14,265,11355				SO:0001651	inframe_deletion	23360							g.chr11:47744589_47744591delGGA	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.2742_2744delTCC	11.37:g.47744598_47744600delGGA	ENSP00000263773:p.Pro918del						p.PP916del	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN			15	2754_2756	-			916			Pro-rich.		Q9H985|Q9NT81|Q9Y2L7	In_Frame_Del	DEL	ENST00000263773.5	37	c.2742_2744delTCC	CCDS41644.1																																																																																				0.458	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			2	4						2	4	---	---	---	---
MESP2	145873	broad.mit.edu	37	15	90320121	90320144	+	In_Frame_Del	DEL	AGGGGCAGGGGCAAGGGCAGGGGC	AGGGGCAGGGGCAAGGGCAGGGGC	-	rs56192595|rs200021459|rs199821487	byFrequency	TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC	ENST00000341735.3	+	1	533_556	c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	c.(532-558)gaggggcaggggcaagggcaggggcag>gag	p.GQGQGQGQ195del	MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 2	195	13 X 2 AA tandem repeats of G-Q.				mesodermal cell migration (GO:0008078)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q198_G205delQGQGQGQG(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg	0.777														3487	0.696286	0.4168	0.7824	5008	,	,		13432	0.8879		0.7654	False		,,,				2504	0.7444					ENST00000341735.3																			1	Deletion - In frame(1)	p.Q198_G205delQGQGQGQG(1)	upper_aerodigestive_tract(1)	kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(532-558)gag>g		mesoderm posterior 2 homolog (mouse)				995,777		385,225,276						0.1	0.0		dbSNP_129	3	3389,1453		1404,581,436	no	coding	MESP2	NM_001039958.1		1789,806,712	A1A1,A1R,RR		30.0083,43.8488,33.7164				4384,2230				SO:0001651	inframe_deletion	145873				Notch signaling pathway	nucleus	DNA binding	g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC		CCDS42078.1	15q26.1	2014-06-30	2014-06-30			ENSG00000188095		"""Basic helix-loop-helix proteins"""	29659	protein-coding gene	gene with protein product		605195	"""mesoderm posterior 2 homolog (mouse)"""			11578861	Standard	NM_001039958		Approved	SCDO2, bHLHc6	uc002bon.3	Q0VG99		ENST00000341735.3:c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	15.37:g.90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC	ENSP00000342392:p.Gly195_Gln202del					MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron	p.EGQGQGQGQ178del	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)		1	533_556	+	Lung NSC(78;0.0221)|all_lung(78;0.0448)		178					Q7RTU2	In_Frame_Del	DEL	ENST00000341735.3	37	c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	CCDS42078.1																																																																																				0.777	MESP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416421.1	XM_085261		3	5						3	5	---	---	---	---
CHD3	1107	broad.mit.edu	37	17	7788212	7788214	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr17:7788212_7788214delGAG	ENST00000380358.4	+	1	89_91	c.88_90delGAG	c.(88-90)gagdel	p.E35del	LSMD1_ENST00000576861.1_Intron|LSMD1_ENST00000570555.1_Intron	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	0					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				agagggcgacgaggaggaggagg	0.685																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(88-90)del		chromodomain helicase DNA binding protein 3				66,3690		5,56,1817						1.5	1.0			14	102,7350		5,92,3629	no	coding	CHD3	NM_001005271.2		10,148,5446	A1A1,A1R,RR		1.3688,1.7572,1.4989				168,11040				SO:0001651	inframe_deletion	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7788212_7788214delGAG	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000380358.4:c.88_90delGAG	17.37:g.7788221_7788223delGAG	ENSP00000369716:p.Glu35del					LSMD1_ENST00000570555.1_Intron|LSMD1_ENST00000576861.1_Intron	p.E35del	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			1	89_91	+		Prostate(122;0.202)	450					D3DTQ9|E9PG89|Q9Y4I0	In_Frame_Del	DEL	ENST00000380358.4	37	c.88_90delGAG	CCDS32553.2																																																																																				0.685	CHD3-003	NOVEL	not_organism_supported|basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000318052.1	NM_001005273		3	5						3	5	---	---	---	---
TRPM4	54795	broad.mit.edu	37	19	49713988	49713988	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr19:49713988delC	ENST00000252826.5	+	22	3476	c.3350delC	c.(3349-3351)gccfs	p.A1117fs	TRPM4_ENST00000355712.5_Frame_Shift_Del_p.A763fs|TRPM4_ENST00000427978.2_Frame_Shift_Del_p.A972fs	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	1117	Calmodulin-binding.				calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TCTAAGGAAGCCGAGCGGAAG	0.622																																						ENST00000252826.5																			0				breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49						c.(3349-3351)gcfs		transient receptor potential cation channel, subfamily M, member 4							35.0	42.0	40.0					19																	49713988		2203	4300	6503	SO:0001589	frameshift_variant	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49713988delC	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.3350delC	19.37:g.49713988delC	ENSP00000252826:p.Ala1117fs					TRPM4_ENST00000355712.5_Frame_Shift_Del_p.A763fs|TRPM4_ENST00000427978.2_Frame_Shift_Del_p.A972fs	p.A1117fs	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	22	3476	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	1117			Calmodulin-binding.		A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Frame_Shift_Del	DEL	ENST00000252826.5	37	c.3350delC	CCDS33073.1																																																																																				0.622	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		23	41						23	41	---	---	---	---
RNA5-8SP6	100873336	broad.mit.edu	37	Y	10037863	10037863	+	RNA	DEL	C	C	-	rs373540942		TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chrY:10037863delC	ENST00000515896.1	+	0	100									RNA, 5.8S ribosomal pseudogene 6																		ATCGACACTTCGAACGCACTT	0.552																																						ENST00000515896.1																			0																																																			0							g.chrY:10037863delC			Yp11.2	2012-08-07	2012-08-07	2012-08-07	ENSG00000251705	ENSG00000251705			41960	pseudogene	RNA, pseudogene			"""RNA, 5.8S ribosomal 6"""	RN5-8S6			Standard	NG_033474		Approved						Y.37:g.10037863delC														0	100	+									RNA	DEL	ENST00000515896.1	37																																																																																						0.552	RNA5-8SP6-201	KNOWN	basic	rRNA	rRNA				8	55						8	55	---	---	---	---
