#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SLC44A5	204962	broad.mit.edu	37	1	75708580	75708580	+	Silent	SNP	C	C	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr1:75708580C>T	ENST00000370855.5	-	8	575	c.462G>A	c.(460-462)aaG>aaA	p.K154K	SLC44A5_ENST00000469525.1_5'Flank|SLC44A5_ENST00000370859.3_Silent_p.K154K|SLC44A5_ENST00000535611.1_Silent_p.K24K	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	154					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CCTTCACAGGCTTAGCAGTGG	0.368																																						ENST00000370855.5																			0				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(460-462)aaG>aaA		solute carrier family 44, member 5							166.0	169.0	168.0					1																	75708580		2203	4300	6503	SO:0001819	synonymous_variant	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75708580C>T	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.462G>A	1.37:g.75708580C>T			Somatic				SLC44A5_ENST00000535611.1_Silent_p.K24K|SLC44A5_ENST00000370859.3_Silent_p.K154K	p.K154K	NM_152697.4	NP_689910.2	WXS	Illumina GAIIx	Phase_I	Q8NCS7	CTL5_HUMAN			8	575	-			154					B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Silent	SNP	ENST00000370855.5	37	c.462G>A	CCDS667.1																																																																																				0.368	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697		16	170	16	170	---	---	---	---
LRRC8B	23507	broad.mit.edu	37	1	90058587	90058587	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr1:90058587C>A	ENST00000330947.2	+	6	2757	c.2397C>A	c.(2395-2397)tgC>tgA	p.C799*	RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000358200.4_Nonsense_Mutation_p.C799*|LRRC8B_ENST00000439853.1_Nonsense_Mutation_p.C799*	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	799					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		TACAGACGTGCTTAGACAAAT	0.433																																						ENST00000330947.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26						c.(2395-2397)tgC>tgA		leucine rich repeat containing 8 family, member B							105.0	99.0	101.0					1																	90058587		2203	4300	6503	SO:0001587	stop_gained	23507					integral to membrane		g.chr1:90058587C>A	AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"""T cell activation leucine repeat rich protein"""	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.2397C>A	1.37:g.90058587C>A	ENSP00000332674:p.Cys799*		Somatic				LRRC8B_ENST00000358200.4_Nonsense_Mutation_p.C799*|LRRC8B_ENST00000439853.1_Nonsense_Mutation_p.C799*|RP5-1007M22.2_ENST00000443562.1_RNA	p.C799*	NM_001134476.1	NP_001127948.1	WXS	Illumina GAIIx	Phase_I	Q6P9F7	LRC8B_HUMAN		all cancers(265;0.00515)|Epithelial(280;0.0241)	6	2757	+		all_lung(203;0.17)	799					D3DT28|Q6UY21|Q8N106|Q92627	Nonsense_Mutation	SNP	ENST00000330947.2	37	c.2397C>A	CCDS724.1	.	.	.	.	.	.	.	.	.	.	C	41	8.944176	0.99012	.	.	ENSG00000197147	ENST00000330947;ENST00000358200;ENST00000439853	.	.	.	6.16	5.22	0.72569	.	0.077718	0.56097	D	0.000029	.	.	.	.	.	.	0.43857	D	0.99645	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3149	0.49386	0.0:0.8493:0.0:0.1507	.	.	.	.	X	799	.	.	C	+	3	2	LRRC8B	89831175	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	0.763000	0.26517	1.539000	0.49286	0.650000	0.86243	TGC		0.433	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028008.1	NM_015350		4	88	4	88	---	---	---	---
CLK2	1196	broad.mit.edu	37	1	155240637	155240637	+	Silent	SNP	C	C	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr1:155240637C>T	ENST00000368361.4	-	2	447	c.132G>A	c.(130-132)cgG>cgA	p.R44R	CLK2_ENST00000497188.1_5'Flank|CLK2_ENST00000355560.4_Silent_p.R44R|CLK2_ENST00000536801.1_Silent_p.R44R|CLK2_ENST00000361168.5_Silent_p.R44R			P49760	CLK2_HUMAN	CDC-like kinase 2	44					negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTCGCCGACGCCGTCGTGTCC	0.552								Other conserved DNA damage response genes																														ENST00000368361.4																			0				endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22						c.(130-132)cgG>cgA	Other conserved DNA damage response genes	CDC-like kinase 2							116.0	107.0	110.0					1																	155240637		2203	4300	6503	SO:0001819	synonymous_variant	1196					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:155240637C>T	L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"""CDC-like kinases"""	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.132G>A	1.37:g.155240637C>T			Somatic				CLK2_ENST00000536801.1_Silent_p.R44R|CLK2_ENST00000355560.4_Silent_p.R44R|CLK2_ENST00000361168.5_Silent_p.R44R	p.R44R			WXS	Illumina GAIIx	Phase_I	P49760	CLK2_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		2	447	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		44					B1AVS9|B5MBX6|Q96CQ0	Silent	SNP	ENST00000368361.4	37	c.132G>A																																																																																					0.552	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000087391.1	NM_003993		16	215	16	215	---	---	---	---
ARHGEF11	9826	broad.mit.edu	37	1	156937915	156937915	+	Splice_Site	SNP	G	G	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr1:156937915G>A	ENST00000361409.2	-	10	1449	c.707C>T	c.(706-708)tCa>tTa	p.S236L	ARHGEF11_ENST00000368194.3_Splice_Site_p.S276L	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	236					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ATTCATCAATGACTAGAGAAA	0.517																																						ENST00000368194.3																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81						c.(826-828)tCa>tTa		Rho guanine nucleotide exchange factor (GEF) 11							38.0	37.0	37.0					1																	156937915		2203	4300	6503	SO:0001630	splice_region_variant	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156937915G>A	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.706-1C>T	1.37:g.156937915G>A			Somatic				ARHGEF11_ENST00000361409.2_Splice_Site_p.S236L	p.S276L	NM_198236.2	NP_937879.1	WXS	Illumina GAIIx	Phase_I	O15085	ARHGB_HUMAN			11	1866	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		236					D3DVD0|Q5VY40|Q6PFW2	Splice_Site	SNP	ENST00000361409.2	37	c.827C>T	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.147573	0.37923	.	.	ENSG00000132694	ENST00000368194;ENST00000361409	T;T	0.68181	-0.31;-0.22	5.23	4.32	0.51571	.	0.662303	0.13366	N	0.393285	T	0.29684	0.0741	N	0.24115	0.695	0.80722	D	1	B;B	0.14012	0.004;0.009	B;B	0.12837	0.006;0.008	T	0.18241	-1.0343	10	0.20046	T	0.44	-3.6729	6.7639	0.23556	0.0879:0.0:0.7383:0.1738	.	236;276	O15085;O15085-2	ARHGB_HUMAN;.	L	276;236	ENSP00000357177:S276L;ENSP00000354644:S236L	ENSP00000354644:S236L	S	-	2	0	ARHGEF11	155204539	0.971000	0.33674	0.875000	0.34327	0.937000	0.57800	1.958000	0.40402	1.421000	0.47157	0.650000	0.86243	TCA		0.517	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236	Missense_Mutation	15	46	15	46	---	---	---	---
CACNA1E	777	broad.mit.edu	37	1	181701995	181701995	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr1:181701995C>A	ENST00000367573.2	+	20	2773	c.2773C>A	c.(2773-2775)Cgc>Agc	p.R925S	CACNA1E_ENST00000357570.5_Missense_Mutation_p.R876S|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R906S|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R906S|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R532S|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R857S|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R925S	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	925					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCGGCATCGCCGCGTCAGGAC	0.652																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(2716-2718)Cgc>Agc		calcium channel, voltage-dependent, R type, alpha 1E subunit							61.0	70.0	67.0					1																	181701995		2143	4257	6400	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181701995C>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.2773C>A	1.37:g.181701995C>A	ENSP00000356545:p.Arg925Ser		Somatic				CACNA1E_ENST00000367570.1_Missense_Mutation_p.R925S|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R906S|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R876S|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R532S|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R857S|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R925S	p.R906S	NM_001205294.1	NP_001192223.1	WXS	Illumina GAIIx	Phase_I	Q15878	CAC1E_HUMAN			19	2881	+			925					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.2716C>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.681349	0.29872	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96200	-3.87;-3.88;-3.86;-3.88;-3.94;-3.87;-3.86	4.13	4.13	0.48395	.	0.384308	0.28371	N	0.015585	D	0.85080	0.5615	N	0.08118	0	0.25170	N	0.990287	B;P;B	0.38827	0.284;0.649;0.415	B;B;B	0.32624	0.072;0.149;0.072	T	0.77000	-0.2750	10	0.09590	T	0.72	.	10.1053	0.42530	0.3298:0.6702:0.0:0.0	.	906;925;925	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	S	925;906;876;857;532;906;925	ENSP00000356542:R925S;ENSP00000434814:R906S;ENSP00000350183:R876S;ENSP00000351101:R857S;ENSP00000356539:R532S;ENSP00000353222:R906S;ENSP00000356545:R925S	ENSP00000350183:R876S	R	+	1	0	CACNA1E	179968618	0.499000	0.26083	0.967000	0.41034	0.928000	0.56348	1.167000	0.31847	2.592000	0.87571	0.555000	0.69702	CGC		0.652	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		5	187	5	187	---	---	---	---
TMEM63A	9725	broad.mit.edu	37	1	226059717	226059717	+	Silent	SNP	G	G	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr1:226059717G>A	ENST00000366835.3	-	5	573	c.303C>T	c.(301-303)tcC>tcT	p.S101S		NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	101					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					GTTGACCTGAGGAGGAAGTCG	0.438																																						ENST00000366835.3																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(301-303)tcC>tcT		transmembrane protein 63A							114.0	94.0	101.0					1																	226059717		2203	4300	6503	SO:0001819	synonymous_variant	9725					integral to membrane|lysosomal membrane	nucleotide binding	g.chr1:226059717G>A		CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"""KIAA0792"""	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.303C>T	1.37:g.226059717G>A			Somatic					p.S101S	NM_014698.2	NP_055513.2	WXS	Illumina GAIIx	Phase_I	O94886	TM63A_HUMAN			5	573	-	Breast(184;0.197)		101					Q53GI7|Q5TE96|Q8N2U2	Silent	SNP	ENST00000366835.3	37	c.303C>T	CCDS31042.1																																																																																				0.438	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2	NM_014698		4	22	4	22	---	---	---	---
SIPA1L2	57568	broad.mit.edu	37	1	232607141	232607141	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr1:232607141G>T	ENST00000366630.1	-	7	2577	c.2219C>A	c.(2218-2220)cCa>cAa	p.P740Q	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.P740Q			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	740	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.P740Q(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTCGGTACATGGATTATGCAC	0.433																																						ENST00000366630.1																			1	Substitution - Missense(1)	p.P740Q(1)	lung(1)	NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(2218-2220)cCa>cAa		signal-induced proliferation-associated 1 like 2							184.0	179.0	180.0					1																	232607141		2047	4227	6274	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232607141G>T	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.2219C>A	1.37:g.232607141G>T	ENSP00000355589:p.Pro740Gln		Somatic				SIPA1L2_ENST00000262861.4_Missense_Mutation_p.P740Q	p.P740Q			WXS	Illumina GAIIx	Phase_I	Q9P2F8	SI1L2_HUMAN			7	2577	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	740			Rap-GAP.		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.2219C>A	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	G	33	5.261452	0.95368	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	D;D	0.93906	-3.31;-3.31	5.68	5.68	0.88126	Rap/ran-GAP (2);	0.000000	0.85682	D	0.000000	D	0.97405	0.9151	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97558	1.0096	10	0.87932	D	0	-24.1884	20.1594	0.98130	0.0:0.0:1.0:0.0	.	740	Q9P2F8	SI1L2_HUMAN	Q	740	ENSP00000355589:P740Q;ENSP00000262861:P740Q	ENSP00000262861:P740Q	P	-	2	0	SIPA1L2	230673764	1.000000	0.71417	0.970000	0.41538	0.998000	0.95712	9.813000	0.99286	2.843000	0.97960	0.650000	0.86243	CCA		0.433	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		5	143	5	143	---	---	---	---
MYT1L	23040	broad.mit.edu	37	2	1982977	1982977	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr2:1982977C>A	ENST00000399161.2	-	8	859	c.112G>T	c.(112-114)Ggc>Tgc	p.G38C	MYT1L_ENST00000428368.2_Missense_Mutation_p.G38C	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	38					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGACCACTGCCGTCACAGCCA	0.512																																						ENST00000399161.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(112-114)Ggc>Tgc		myelin transcription factor 1-like							37.0	40.0	39.0					2																	1982977		2196	4298	6494	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1982977C>A	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.112G>T	2.37:g.1982977C>A	ENSP00000382114:p.Gly38Cys		Somatic				MYT1L_ENST00000428368.2_Missense_Mutation_p.G38C	p.G38C	NM_015025.2	NP_055840.2	WXS	Illumina GAIIx	Phase_I	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	8	859	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	38					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.112G>T		.	.	.	.	.	.	.	.	.	.	C	18.57	3.651803	0.67472	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.66995	-0.24;-0.24	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000001	D	0.85208	0.5644	M	0.88241	2.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88204	0.2886	10	0.87932	D	0	-43.8705	18.6852	0.91560	0.0:1.0:0.0:0.0	.	38;38	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	C	38	ENSP00000382114:G38C;ENSP00000396103:G38C	ENSP00000295067:G38C	G	-	1	0	MYT1L	1961984	1.000000	0.71417	0.993000	0.49108	0.992000	0.81027	6.604000	0.74150	2.405000	0.81733	0.655000	0.94253	GGC		0.512	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		3	27	3	27	---	---	---	---
BRE	9577	broad.mit.edu	37	2	28550226	28550226	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr2:28550226C>G	ENST00000344773.2	+	12	1312	c.1174C>G	c.(1174-1176)Cag>Gag	p.Q392E	BRE_ENST00000379624.1_Intron|BRE_ENST00000361704.2_Intron|BRE_ENST00000342045.2_Intron|BRE_ENST00000379632.2_Intron	NM_004899.4	NP_004890.2			brain and reproductive organ-expressed (TNFRSF1A modulator)											NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					CAAGCTGCTCCAGCCCCAGAG	0.557																																						ENST00000344773.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23						c.(1174-1176)Cag>Gag		brain and reproductive organ-expressed (TNFRSF1A modulator)							63.0	73.0	70.0					2																	28550226		2203	4300	6503	SO:0001583	missense	9577				apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding	g.chr2:28550226C>G	AF015767	CCDS1763.1, CCDS1764.1, CCDS1765.1	2p23	2008-02-05			ENSG00000158019	ENSG00000158019			1106	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 4"""	610497				9737713, 7826398	Standard	NM_004899		Approved	BRCC45, BRCC4	uc002rls.3	Q9NXR7	OTTHUMG00000097831	ENST00000344773.2:c.1174C>G	2.37:g.28550226C>G	ENSP00000343412:p.Gln392Glu		Somatic				BRE_ENST00000342045.2_Intron|BRE_ENST00000379632.2_Intron|BRE_ENST00000379624.1_Intron|BRE_ENST00000361704.2_Intron	p.Q392E	NM_004899.4	NP_004890.2	WXS	Illumina GAIIx	Phase_I	Q9NXR7	BRE_HUMAN			12	1312	+	Acute lymphoblastic leukemia(172;0.155)		0						Missense_Mutation	SNP	ENST00000344773.2	37	c.1174C>G	CCDS1764.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.071186	0.36566	.	.	ENSG00000158019	ENST00000344773	.	.	.	3.3	-1.07	0.09968	.	0.908813	0.09354	N	0.813665	T	0.24851	0.0603	.	.	.	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.32640	-0.9899	8	0.87932	D	0	17.7334	0.3808	0.00395	0.2066:0.1546:0.2124:0.4264	.	392	Q9NXR7-1	.	E	392	.	ENSP00000343412:Q392E	Q	+	1	0	BRE	28403730	0.000000	0.05858	0.038000	0.18304	0.956000	0.61745	-0.380000	0.07427	-0.181000	0.10619	0.455000	0.32223	CAG		0.557	BRE-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215111.1			29	182	29	182	---	---	---	---
LOXL3	84695	broad.mit.edu	37	2	74762839	74762839	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr2:74762839T>C	ENST00000264094.3	-	8	1363	c.1292A>G	c.(1291-1293)gAg>gGg	p.E431G	LOXL3_ENST00000393937.2_Missense_Mutation_p.E286G|LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000409549.1_Intron|LOXL3_ENST00000409986.1_Missense_Mutation_p.E286G	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	431	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						TATTTGCACCTCGACTCGCCC	0.622																																						ENST00000264094.3																			0				endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						c.(1291-1293)gAg>gGg		lysyl oxidase-like 3							43.0	51.0	49.0					2																	74762839		2202	4300	6502	SO:0001583	missense	84695					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity	g.chr2:74762839T>C	AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.1292A>G	2.37:g.74762839T>C	ENSP00000264094:p.Glu431Gly		Somatic				LOXL3_ENST00000393937.2_Missense_Mutation_p.E286G|LOXL3_ENST00000409549.1_Intron|LOXL3_ENST00000409986.1_Missense_Mutation_p.E286G|LOXL3_ENST00000409249.1_Intron	p.E431G	NM_032603.2	NP_115992.1	WXS	Illumina GAIIx	Phase_I	P58215	LOXL3_HUMAN			8	1363	-			431			SRCR 4.		D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Missense_Mutation	SNP	ENST00000264094.3	37	c.1292A>G	CCDS1953.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.437443	0.83885	.	.	ENSG00000115318	ENST00000264094;ENST00000393937;ENST00000409986	T;T;T	0.49139	0.79;0.79;0.79	5.11	5.11	0.69529	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.85682	D	0.000000	T	0.80116	0.4564	H	0.98542	4.26	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.998;0.998	D	0.87197	0.2238	10	0.87932	D	0	.	13.1755	0.59624	0.0:0.0:0.0:1.0	.	286;286;431	B9A025;Q6IPL7;P58215	.;.;LOXL3_HUMAN	G	431;286;286	ENSP00000264094:E431G;ENSP00000377512:E286G;ENSP00000386545:E286G	ENSP00000264094:E431G	E	-	2	0	LOXL3	74616347	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	7.868000	0.87116	2.272000	0.75746	0.460000	0.39030	GAG		0.622	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1	NM_032603		3	90	3	90	---	---	---	---
FANCD2OS	115795	broad.mit.edu	37	3	10145972	10145972	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr3:10145972A>G	ENST00000450660.2	-	2	703	c.487T>C	c.(487-489)Tat>Cat	p.Y163H	FANCD2OS_ENST00000524279.1_Missense_Mutation_p.Y163H	NM_001164839.1	NP_001158311.1	Q96PS1	FACOS_HUMAN	FANCD2 opposite strand	163																	TAAGTTGCATACAGCAAGAGG	0.483																																						ENST00000450660.2																			0											c.(487-489)Tat>Cat		FANCD2 opposite strand							113.0	101.0	105.0					3																	10145972		2203	4300	6503	SO:0001583	missense	115795							g.chr3:10145972A>G	AF230334	CCDS2596.1	3p25.3	2012-11-12	2012-11-12	2012-11-12	ENSG00000163705	ENSG00000163705			28623	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 24"""	C3orf24		12477932	Standard	NM_001164839		Approved	MGC40179	uc003buz.3	Q96PS1	OTTHUMG00000128669	ENST00000450660.2:c.487T>C	3.37:g.10145972A>G	ENSP00000429608:p.Tyr163His		Somatic				FANCD2OS_ENST00000524279.1_Missense_Mutation_p.Y163H	p.Y163H	NM_001164839.1	NP_001158311.1	WXS	Illumina GAIIx	Phase_I					2	703	-									Missense_Mutation	SNP	ENST00000450660.2	37	c.487T>C	CCDS2596.1	.	.	.	.	.	.	.	.	.	.	A	18.69	3.677365	0.68042	.	.	ENSG00000163705	ENST00000524279;ENST00000450660	.	.	.	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000004	T	0.64735	0.2625	L	0.29908	0.895	0.45097	D	0.998117	D	0.69078	0.997	D	0.71184	0.972	T	0.68606	-0.5364	9	0.87932	D	0	.	13.604	0.62037	1.0:0.0:0.0:0.0	.	163	Q96PS1	CC024_HUMAN	H	163	.	ENSP00000429608:Y163H	Y	-	1	0	C3orf24	10120972	1.000000	0.71417	0.999000	0.59377	0.834000	0.47266	5.583000	0.67484	2.108000	0.64289	0.529000	0.55759	TAT		0.483	FANCD2OS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339891.2	NM_173472		33	77	33	77	---	---	---	---
GRIP2	80852	broad.mit.edu	37	3	14561979	14561979	+	RNA	SNP	C	C	G			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr3:14561979C>G	ENST00000273083.3	-	0	843							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						AGCGAGATCCCCAGGGCAGAC	0.552																																						ENST00000273083.3																			0				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25								glutamate receptor interacting protein 2							70.0	80.0	77.0					3																	14561979		2122	4238	6360			80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14561979C>G	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14561979C>G			Somatic								WXS	Illumina GAIIx	Phase_I	Q9C0E4	GRIP2_HUMAN			0	843	-								Q8TEH9|Q9H7H3	RNA	SNP	ENST00000273083.3	37																																																																																						0.552	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423		8	37	8	37	---	---	---	---
NEK4	6787	broad.mit.edu	37	3	52802507	52802507	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr3:52802507C>A	ENST00000233027.5	-	2	409	c.207G>T	c.(205-207)aaG>aaT	p.K69N	NEK4_ENST00000383721.4_Missense_Mutation_p.K69N|NEK4_ENST00000535191.1_Intron	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	69	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		CCCATGACTCCTTGTAGGTGA	0.522																																						ENST00000233027.5																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26						c.(205-207)aaG>aaT		NIMA-related kinase 4							162.0	141.0	148.0					3																	52802507		2203	4300	6503	SO:0001583	missense	6787				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:52802507C>A	L20321	CCDS2863.1, CCDS54593.1	3p21.1	2012-11-15	2012-11-15	2002-05-10	ENSG00000114904	ENSG00000114904	2.7.11.1		11399	protein-coding gene	gene with protein product	"""serine/threonine protein kinase-2"""	601959	"""serine/threonine kinase 2"", ""NIMA (never in mitosis gene a)-related kinase 4"""	STK2		8208544	Standard	NM_001193533		Approved	NRK2, pp12301	uc003dfq.4	P51957	OTTHUMG00000158836	ENST00000233027.5:c.207G>T	3.37:g.52802507C>A	ENSP00000233027:p.Lys69Asn		Somatic				NEK4_ENST00000383721.4_Missense_Mutation_p.K69N|NEK4_ENST00000535191.1_Intron	p.K69N	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	WXS	Illumina GAIIx	Phase_I	P51957	NEK4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)	2	409	-			69			Protein kinase.		A5YM70|B2R633|B7Z200|Q6P576	Missense_Mutation	SNP	ENST00000233027.5	37	c.207G>T	CCDS2863.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.673452	0.67928	.	.	ENSG00000114904	ENST00000233027;ENST00000383721	T;T	0.25250	1.81;1.81	5.86	0.21	0.15231	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.063289	0.56097	D	0.000022	T	0.31263	0.0791	L	0.39326	1.205	0.80722	D	1	D;D	0.59767	0.982;0.986	P;P	0.61477	0.823;0.889	T	0.04454	-1.0950	10	0.62326	D	0.03	.	7.0479	0.25056	0.0:0.4825:0.1206:0.3969	.	69;69	P51957-2;P51957	.;NEK4_HUMAN	N	69	ENSP00000233027:K69N;ENSP00000373227:K69N	ENSP00000233027:K69N	K	-	3	2	NEK4	52777547	0.996000	0.38824	1.000000	0.80357	0.871000	0.50021	0.440000	0.21592	0.263000	0.21812	0.655000	0.94253	AAG		0.522	NEK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352386.2	NM_003157		7	206	7	206	---	---	---	---
TRIO	7204	broad.mit.edu	37	5	14474130	14474130	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr5:14474130G>T	ENST00000344204.4	+	40	6031	c.6007G>T	c.(6007-6009)Ggt>Tgt	p.G2003C	TRIO_ENST00000537187.1_Missense_Mutation_p.G2003C	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2003	DH 2. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GAAAGAAGATGGTGTTCCTGA	0.378																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(6007-6009)Ggt>Tgt		trio Rho guanine nucleotide exchange factor							169.0	140.0	149.0					5																	14474130		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14474130G>T	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.6007G>T	5.37:g.14474130G>T	ENSP00000339299:p.Gly2003Cys		Somatic				TRIO_ENST00000537187.1_Missense_Mutation_p.G2003C	p.G2003C	NM_007118.2	NP_009049.2	WXS	Illumina GAIIx	Phase_I	O75962	TRIO_HUMAN			40	6031	+	Lung NSC(4;0.000742)		2003			DH 2.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.6007G>T	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258376	0.80246	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206;ENST00000541447	T;T	0.70282	-0.47;-0.47	5.43	5.43	0.79202	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.85256	0.5655	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.952	D	0.86353	0.1712	10	0.59425	D	0.04	.	19.253	0.93933	0.0:0.0:1.0:0.0	.	2003;2003	O75962-5;O75962	.;TRIO_HUMAN	C	2003;2003;1690;83	ENSP00000339299:G2003C;ENSP00000446348:G2003C	ENSP00000339299:G2003C	G	+	1	0	TRIO	14527130	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.830000	0.86741	2.551000	0.86045	0.563000	0.77884	GGT		0.378	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		4	84	4	84	---	---	---	---
TRIO	7204	broad.mit.edu	37	5	14508079	14508079	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr5:14508079T>C	ENST00000344204.4	+	57	8866	c.8842T>C	c.(8842-8844)Tac>Cac	p.Y2948H	TRIO_ENST00000537187.1_Missense_Mutation_p.Y2772H|TRIO_ENST00000344135.5_Missense_Mutation_p.Y447H	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2948	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CACGACCTACTACATCCACCA	0.517																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(8842-8844)Tac>Cac		trio Rho guanine nucleotide exchange factor							108.0	100.0	103.0					5																	14508079		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14508079T>C	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.8842T>C	5.37:g.14508079T>C	ENSP00000339299:p.Tyr2948His		Somatic				TRIO_ENST00000344135.5_Missense_Mutation_p.Y447H|TRIO_ENST00000537187.1_Missense_Mutation_p.Y2772H	p.Y2948H	NM_007118.2	NP_009049.2	WXS	Illumina GAIIx	Phase_I	O75962	TRIO_HUMAN			57	8866	+	Lung NSC(4;0.000742)		2948			Protein kinase.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.8842T>C	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	T	9.747	1.166374	0.21621	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000344135	T;T;T	0.64618	-0.11;-0.11;-0.11	5.28	1.26	0.21427	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.145200	0.47852	N	0.000208	T	0.50905	0.1643	N	0.21617	0.685	0.24544	N	0.994054	B	0.32968	0.392	B	0.44224	0.444	T	0.45629	-0.9248	10	0.30078	T	0.28	.	8.3679	0.32397	0.0:0.267:0.0:0.733	.	2948	O75962	TRIO_HUMAN	H	2948;2772;447	ENSP00000339299:Y2948H;ENSP00000446348:Y2772H;ENSP00000339291:Y447H	ENSP00000339291:Y447H	Y	+	1	0	TRIO	14561079	1.000000	0.71417	0.996000	0.52242	0.925000	0.55904	1.844000	0.39269	0.022000	0.15160	0.533000	0.62120	TAC		0.517	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		9	65	9	65	---	---	---	---
ZFYVE16	9765	broad.mit.edu	37	5	79732904	79732904	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr5:79732904G>T	ENST00000338008.5	+	3	580	c.400G>T	c.(400-402)Ggt>Tgt	p.G134C	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.G134C|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.G134C	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	134					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		AAGTGACATGGGTAACTTAGT	0.353																																					Melanoma(150;1452 1854 16018 17851 37292)	ENST00000338008.5																			0				breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(400-402)Ggt>Tgt		zinc finger, FYVE domain containing 16							135.0	146.0	142.0					5																	79732904		2203	4300	6503	SO:0001583	missense	9765				BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity	g.chr5:79732904G>T	AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"""Zinc fingers, FYVE domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20756	protein-coding gene	gene with protein product	"""endofin"", ""protein phosphatase 1, regulatory subunit 69"""	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.400G>T	5.37:g.79732904G>T	ENSP00000337159:p.Gly134Cys		Somatic				ZFYVE16_ENST00000510158.1_Missense_Mutation_p.G134C|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.G134C	p.G134C	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	WXS	Illumina GAIIx	Phase_I	Q7Z3T8	ZFY16_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)	3	580	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	134					O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	37	c.400G>T	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.043693	0.55003	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.53206	0.63;0.63;0.63	5.01	4.14	0.48551	.	0.106892	0.41938	D	0.000794	T	0.63462	0.2513	M	0.64997	1.995	0.38341	D	0.944062	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.995	T	0.69143	-0.5223	10	0.87932	D	0	-3.4977	10.9408	0.47273	0.158:0.0:0.842:0.0	.	134;134	Q7Z3T8-3;Q7Z3T8	.;ZFY16_HUMAN	C	134	ENSP00000337159:G134C;ENSP00000423663:G134C;ENSP00000426848:G134C	ENSP00000337159:G134C	G	+	1	0	ZFYVE16	79768660	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.742000	0.55097	1.236000	0.43740	0.467000	0.42956	GGT		0.353	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733		6	144	6	144	---	---	---	---
P4HA2	8974	broad.mit.edu	37	5	131544991	131544991	+	Missense_Mutation	SNP	C	C	A	rs200144298		TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr5:131544991C>A	ENST00000401867.1	-	8	1311	c.743G>T	c.(742-744)cGg>cTg	p.R248L	P4HA2_ENST00000379100.2_Missense_Mutation_p.R248L|P4HA2_ENST00000379104.2_Missense_Mutation_p.R248L|P4HA2_ENST00000379086.1_Missense_Mutation_p.R248L|P4HA2_ENST00000166534.4_Missense_Mutation_p.R248L|P4HA2_ENST00000360568.3_Missense_Mutation_p.R248L			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	248					peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222)	electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	CTCAAAGTACCGCAGATTCCC	0.443																																					Esophageal Squamous(68;117 1135 17362 19256 34242)	ENST00000401867.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(742-744)cGg>cTg		prolyl 4-hydroxylase, alpha polypeptide II	L-Proline(DB00172)|Succinic acid(DB00139)						185.0	183.0	184.0					5																	131544991		2203	4300	6503	SO:0001583	missense	8974					endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding	g.chr5:131544991C>A	U90441	CCDS4151.1, CCDS34230.1	5q31	2008-12-09	2008-12-09		ENSG00000072682	ENSG00000072682	1.14.11.2		8547	protein-coding gene	gene with protein product	"""4-PH alpha 2"", ""collagen prolyl 4-hydroxylase alpha(II)"""	600608	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II"""			9211872, 9149945	Standard	NM_001142598		Approved	C-P4Halpha(II)	uc003kwl.3	O15460	OTTHUMG00000059647	ENST00000401867.1:c.743G>T	5.37:g.131544991C>A	ENSP00000384999:p.Arg248Leu		Somatic				P4HA2_ENST00000360568.3_Missense_Mutation_p.R248L|P4HA2_ENST00000379086.1_Missense_Mutation_p.R248L|P4HA2_ENST00000379104.2_Missense_Mutation_p.R248L|P4HA2_ENST00000166534.4_Missense_Mutation_p.R248L|P4HA2_ENST00000379100.2_Missense_Mutation_p.R248L	p.R248L			WXS	Illumina GAIIx	Phase_I	O15460	P4HA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		8	1311	-		all_cancers(142;0.103)|Breast(839;0.198)	248					D3DQ85|D3DQ86|Q8WWN0	Missense_Mutation	SNP	ENST00000401867.1	37	c.743G>T	CCDS4151.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419085	0.62622	.	.	ENSG00000072682	ENST00000401867;ENST00000379086;ENST00000166534;ENST00000360568;ENST00000379104;ENST00000379100	T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9	5.5	4.64	0.57946	Tetratricopeptide-like helical (1);	0.174192	0.51477	D	0.000085	T	0.34890	0.0913	L	0.41710	1.295	0.80722	D	1	B;B	0.19706	0.022;0.038	B;B	0.26310	0.049;0.068	T	0.21314	-1.0249	10	0.62326	D	0.03	-8.7793	9.1249	0.36810	0.0:0.7808:0.0:0.2192	.	248;248	O15460;O15460-2	P4HA2_HUMAN;.	L	248	ENSP00000384999:R248L;ENSP00000368379:R248L;ENSP00000166534:R248L;ENSP00000353772:R248L;ENSP00000368398:R248L;ENSP00000368394:R248L	ENSP00000166534:R248L	R	-	2	0	P4HA2	131572890	0.814000	0.29104	1.000000	0.80357	0.998000	0.95712	1.540000	0.36115	1.466000	0.48025	0.655000	0.94253	CGG		0.443	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132653.4	NM_004199		5	276	5	276	---	---	---	---
PCDHA12	56137	broad.mit.edu	37	5	140256229	140256229	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr5:140256229C>T	ENST00000398631.2	+	1	1172	c.1172C>T	c.(1171-1173)cCt>cTt	p.P391L	PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	391	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACTGACACCTCATGTTCCC	0.567																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			0				NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(1171-1173)cCt>cTt									159.0	153.0	155.0					5																	140256229		2203	4300	6503	SO:0001583	missense	56137							g.chr5:140256229C>T	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1172C>T	5.37:g.140256229C>T	ENSP00000381628:p.Pro391Leu		Somatic				PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron	p.P391L	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1172	+								O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.1172C>T	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	C	9.672	1.146869	0.21288	.	.	ENSG00000251664	ENST00000398631	T	0.60040	0.22	4.96	3.13	0.36017	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.73305	0.3570	M	0.86502	2.82	0.09310	N	1	B;B	0.34313	0.146;0.448	B;P	0.48795	0.089;0.59	T	0.66376	-0.5939	9	0.59425	D	0.04	.	12.1043	0.53803	0.1358:0.7336:0.1306:0.0	.	391;391	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	L	391	ENSP00000381628:P391L	ENSP00000381628:P391L	P	+	2	0	PCDHA12	140236413	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-2.629000	0.00872	0.575000	0.29434	0.655000	0.94253	CCT		0.567	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		21	135	21	135	---	---	---	---
SGCD	6444	broad.mit.edu	37	5	155935636	155935636	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr5:155935636C>G	ENST00000435422.3	+	3	702	c.215C>G	c.(214-216)aCa>aGa	p.T72R	SGCD_ENST00000517913.1_Missense_Mutation_p.T73R|SGCD_ENST00000337851.4_Missense_Mutation_p.T73R|SGCD_ENST00000447401.1_Missense_Mutation_p.T73R	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	72					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGAGGATCACAGAAAAAGGT	0.413																																						ENST00000435422.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24						c.(214-216)aCa>aGa		sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)							92.0	84.0	86.0					5																	155935636		1835	4095	5930	SO:0001583	missense	6444				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		g.chr5:155935636C>G	BX537948	CCDS47325.1, CCDS47326.1, CCDS47327.1	5q33-q34	2014-09-17	2002-08-29						10807	protein-coding gene	gene with protein product		601411	"""sarcoglycan, delta (35kD dystrophin-associated glycoprotein)"""			8776597, 8841194, 10974018	Standard	NM_000337		Approved	DAGD, LGMD2F, CMD1L	uc003lwd.4	Q92629		ENST00000435422.3:c.215C>G	5.37:g.155935636C>G	ENSP00000403003:p.Thr72Arg		Somatic				SGCD_ENST00000517913.1_Missense_Mutation_p.T73R|SGCD_ENST00000337851.4_Missense_Mutation_p.T73R|SGCD_ENST00000447401.1_Missense_Mutation_p.T73R	p.T72R	NM_001128209.1	NP_001121681.1	WXS	Illumina GAIIx	Phase_I	Q92629	SGCD_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	702	+	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	72					A8K9S9|Q53XA5|Q99644	Missense_Mutation	SNP	ENST00000435422.3	37	c.215C>G	CCDS47327.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.750218	0.89753	.	.	ENSG00000170624	ENST00000517913;ENST00000435422;ENST00000337851;ENST00000447401	D;D;D;D	0.94897	-3.55;-3.55;-3.55;-3.55	5.49	5.49	0.81192	.	0.050562	0.85682	D	0.000000	D	0.96685	0.8918	M	0.73598	2.24	0.80722	D	1	D;D;D	0.89917	0.997;0.997;1.0	D;D;D	0.85130	0.992;0.986;0.997	D	0.94763	0.7938	10	0.15066	T	0.55	-21.7325	17.9142	0.88944	0.0:1.0:0.0:0.0	.	72;73;73	Q92629;Q92629-2;Q92629-3	SGCD_HUMAN;.;.	R	73;72;73;73	ENSP00000429378:T73R;ENSP00000403003:T72R;ENSP00000338343:T73R;ENSP00000408324:T73R	ENSP00000338343:T73R	T	+	2	0	SGCD	155868214	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.380000	0.79704	2.732000	0.93576	0.585000	0.79938	ACA		0.413	SGCD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000373469.3			13	45	13	45	---	---	---	---
SPATS1	221409	broad.mit.edu	37	6	44337822	44337822	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr6:44337822C>A	ENST00000288390.2	+	6	1077	c.730C>A	c.(730-732)Cca>Aca	p.P244T	RP11-444E17.6_ENST00000505802.1_3'UTR|SPATS1_ENST00000323108.8_Missense_Mutation_p.P244T			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	244										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TACATTTATTCCACTTGAGCC	0.323																																						ENST00000288390.2																			0				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14						c.(730-732)Cca>Aca		spermatogenesis associated, serine-rich 1							168.0	165.0	166.0					6																	44337822		2202	4299	6501	SO:0001583	missense	221409							g.chr6:44337822C>A	AK058171	CCDS4911.1	6p21.1	2003-08-08			ENSG00000249481	ENSG00000249481			22957	protein-coding gene	gene with protein product							Standard	NM_145026		Approved	SPATA8, FLJ25442, SRSP1	uc021yzz.1	Q496A3	OTTHUMG00000014764	ENST00000288390.2:c.730C>A	6.37:g.44337822C>A	ENSP00000424400:p.Pro244Thr		Somatic				SPATS1_ENST00000323108.8_Missense_Mutation_p.P244T|RP11-444E17.6_ENST00000505802.1_3'UTR	p.P244T			WXS	Illumina GAIIx	Phase_I	Q496A3	SPAS1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		6	1077	+	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		244					Q496A2|Q496A5|Q96LJ0	Missense_Mutation	SNP	ENST00000288390.2	37	c.730C>A	CCDS4911.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952851	0.73787	.	.	ENSG00000249481	ENST00000323108;ENST00000288390	T;T	0.72835	-0.69;-0.69	5.62	5.62	0.85841	.	0.000000	0.56097	D	0.000037	T	0.78194	0.4245	M	0.63843	1.955	0.41513	D	0.988359	D	0.89917	1.0	D	0.91635	0.999	T	0.77848	-0.2435	10	0.46703	T	0.11	.	15.1651	0.72818	0.0:1.0:0.0:0.0	.	244	Q496A3	SPAS1_HUMAN	T	244	ENSP00000437552:P244T;ENSP00000424400:P244T	ENSP00000424400:P244T	P	+	1	0	SPATS1	44445800	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.942000	0.56614	2.654000	0.90174	0.655000	0.94253	CCA		0.323	SPATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040738.2	NM_145026		8	107	8	107	---	---	---	---
FAM83B	222584	broad.mit.edu	37	6	54735047	54735047	+	Start_Codon_SNP	SNP	G	G	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr6:54735047G>T	ENST00000306858.7	+	2	119	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	1										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTGCAAGCATGGAGACCTCAT	0.383																																						ENST00000306858.7																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71						c.(1-3)atG>atT		family with sequence similarity 83, member B							125.0	105.0	112.0					6																	54735047		2203	4300	6503	SO:0001582	initiator_codon_variant	222584							g.chr6:54735047G>T	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.3G>T	6.37:g.54735047G>T	ENSP00000304078:p.Met1Ile		Somatic					p.M1I	NM_001010872.1	NP_001010872.1	WXS	Illumina GAIIx	Phase_I	Q5T0W9	FA83B_HUMAN			2	119	+	Lung NSC(77;0.0178)|Renal(3;0.122)		1					Q2M1P3|Q96DQ2	Translation_Start_Site	SNP	ENST00000306858.7	37	c.3G>T	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.548697	0.86127	.	.	ENSG00000168143	ENST00000306858	T	0.10005	2.92	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.29223	0.0727	.	.	.	0.40588	D	0.981466	D	0.69078	0.997	D	0.75484	0.986	T	0.05750	-1.0866	9	0.87932	D	0	-25.1178	19.1944	0.93681	0.0:0.0:1.0:0.0	.	1	Q5T0W9	FA83B_HUMAN	I	1	ENSP00000304078:M1I	ENSP00000304078:M1I	M	+	3	0	FAM83B	54843006	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	8.993000	0.93524	2.610000	0.88304	0.591000	0.81541	ATG		0.383	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139	Missense_Mutation	4	76	4	76	---	---	---	---
PHF3	23469	broad.mit.edu	37	6	64412495	64412495	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr6:64412495C>A	ENST00000262043.3	+	10	3537	c.3197C>A	c.(3196-3198)cCa>cAa	p.P1066Q	PHF3_ENST00000393387.1_Missense_Mutation_p.P1066Q			Q92576	PHF3_HUMAN	PHD finger protein 3	1066					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AGTGATGCCCCAATGAAAGAA	0.383																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(3196-3198)cCa>cAa		PHD finger protein 3							111.0	107.0	108.0					6																	64412495		2203	4300	6503	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64412495C>A	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.3197C>A	6.37:g.64412495C>A	ENSP00000262043:p.Pro1066Gln		Somatic				PHF3_ENST00000393387.1_Missense_Mutation_p.P1066Q	p.P1066Q			WXS	Illumina GAIIx	Phase_I	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		10	3537	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		1066					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.3197C>A	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.418704	0.62622	.	.	ENSG00000118482	ENST00000506783;ENST00000515594;ENST00000262043;ENST00000393387	T;T;T;T	0.50001	2.02;0.76;2.1;2.1	5.63	5.63	0.86233	.	0.000000	0.39274	N	0.001403	T	0.63745	0.2537	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63567	-0.6608	10	0.54805	T	0.06	-12.5291	19.6727	0.95916	0.0:1.0:0.0:0.0	.	1066	Q92576	PHF3_HUMAN	Q	880;335;1066;1066	ENSP00000424694:P880Q;ENSP00000425338:P335Q;ENSP00000262043:P1066Q;ENSP00000377048:P1066Q	ENSP00000262043:P1066Q	P	+	2	0	PHF3	64470454	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	5.898000	0.69838	2.656000	0.90262	0.591000	0.81541	CCA		0.383	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			5	102	5	102	---	---	---	---
GABRR1	2569	broad.mit.edu	37	6	89888605	89888605	+	Silent	SNP	T	T	G			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr6:89888605T>G	ENST00000454853.2	-	10	1434	c.1324A>C	c.(1324-1326)Aga>Cga	p.R442R	GABRR1_ENST00000369451.3_Silent_p.R355R|GABRR1_ENST00000435811.1_Silent_p.R425R	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	442					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	TAGCTGCTTCTCTGACTTTTC	0.478																																						ENST00000435811.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35						c.(1273-1275)Aga>Cga		gamma-aminobutyric acid (GABA) A receptor, rho 1	Picrotoxin(DB00466)						197.0	187.0	190.0					6																	89888605		2203	4300	6503	SO:0001819	synonymous_variant	2569				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr6:89888605T>G		CCDS5019.2, CCDS59028.1, CCDS59029.1	6q15	2012-06-22	2012-02-03		ENSG00000146276	ENSG00000146276		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4090	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 1"""	137161	"""gamma-aminobutyric acid (GABA) receptor, rho 1"""			1849271, 1315307	Standard	NM_002042		Approved		uc003pna.2	P24046	OTTHUMG00000015195	ENST00000454853.2:c.1324A>C	6.37:g.89888605T>G			Somatic				GABRR1_ENST00000454853.2_Silent_p.R442R|GABRR1_ENST00000369451.3_Silent_p.R355R	p.R425R	NM_001256703.1	NP_001243632.1	WXS	Illumina GAIIx	Phase_I	P24046	GBRR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00917)	9	1727	-		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)	442					A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Silent	SNP	ENST00000454853.2	37	c.1273A>C	CCDS5019.2																																																																																				0.478	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041479.2			14	100	14	100	---	---	---	---
CDK13	8621	broad.mit.edu	37	7	40132728	40132728	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr7:40132728C>G	ENST00000181839.4	+	13	4185	c.3580C>G	c.(3580-3582)Cag>Gag	p.Q1194E	CDK13_ENST00000340829.5_Missense_Mutation_p.Q1134E	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1194					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AATAAAGGCTCAGCAGTCAAA	0.502																																						ENST00000181839.4																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						c.(3580-3582)Cag>Gag		cyclin-dependent kinase 13							95.0	93.0	94.0					7																	40132728		2203	4300	6503	SO:0001583	missense	8621				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr7:40132728C>G	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.3580C>G	7.37:g.40132728C>G	ENSP00000181839:p.Gln1194Glu		Somatic				CDK13_ENST00000340829.5_Missense_Mutation_p.Q1134E	p.Q1194E	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	WXS	Illumina GAIIx	Phase_I	Q14004	CDK13_HUMAN			13	4185	+			1194					Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	ENST00000181839.4	37	c.3580C>G	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870084	0.91587	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.42131	0.98;0.98	5.68	5.68	0.88126	.	.	.	.	.	T	0.63838	0.2545	L	0.61218	1.895	0.49299	D	0.999779	D;D	0.61697	0.99;0.979	D;D	0.74348	0.979;0.983	T	0.58446	-0.7635	8	.	.	.	-10.5476	20.1615	0.98135	0.0:1.0:0.0:0.0	.	1134;1194	Q14004-2;Q14004	.;CDK13_HUMAN	E	1194;1134	ENSP00000181839:Q1194E;ENSP00000340557:Q1134E	.	Q	+	1	0	CDK13	40099253	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.343000	0.72986	2.835000	0.97688	0.650000	0.86243	CAG		0.502	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		32	165	32	165	---	---	---	---
TYW1	55253	broad.mit.edu	37	7	66489943	66489943	+	Silent	SNP	G	G	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr7:66489943G>A	ENST00000359626.5	+	7	1082	c.918G>A	c.(916-918)caG>caA	p.Q306Q		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	306					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				AGGACCATCAGAGCCTAAATT	0.418																																						ENST00000359626.5																			0				breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46						c.(916-918)caG>caA		tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)							97.0	95.0	96.0					7																	66489943		2203	4298	6501	SO:0001819	synonymous_variant	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66489943G>A	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"""	611243	"""radical S-adenosyl methionine and flavodoxin domains 1"""	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.918G>A	7.37:g.66489943G>A			Somatic					p.Q306Q	NM_018264.2	NP_060734.2	WXS	Illumina GAIIx	Phase_I	Q9NV66	TYW1_HUMAN			7	1082	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	306					Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Silent	SNP	ENST00000359626.5	37	c.918G>A	CCDS5538.1																																																																																				0.418	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		6	120	6	120	---	---	---	---
ZC3H3	23144	broad.mit.edu	37	8	144620720	144620720	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr8:144620720G>T	ENST00000262577.5	-	2	848	c.817C>A	c.(817-819)Cca>Aca	p.P273T		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	273					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GACGGAACTGGCTGATCTGTG	0.652																																						ENST00000262577.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(817-819)Cca>Aca		zinc finger CCCH-type containing 3							35.0	41.0	39.0					8																	144620720		2203	4299	6502	SO:0001583	missense	23144				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	g.chr8:144620720G>T	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"""Zinc fingers, CCCH-type domain containing"""	28972	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 3"""	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.817C>A	8.37:g.144620720G>T	ENSP00000262577:p.Pro273Thr		Somatic					p.P273T	NM_015117.2	NP_055932.2	WXS	Illumina GAIIx	Phase_I	Q8IXZ2	ZC3H3_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)		2	848	-	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		273					Q14163|Q8N4E2|Q9BUS4	Missense_Mutation	SNP	ENST00000262577.5	37	c.817C>A	CCDS6402.1	.	.	.	.	.	.	.	.	.	.	G	2.492	-0.317207	0.05386	.	.	ENSG00000014164	ENST00000262577	T	0.03358	3.96	5.49	1.32	0.21799	.	1.038790	0.07614	N	0.925870	T	0.04272	0.0118	L	0.54323	1.7	0.09310	N	1	B	0.17852	0.024	B	0.17433	0.018	T	0.48186	-0.9057	10	0.21014	T	0.42	0.0621	3.4495	0.07493	0.1527:0.1123:0.5063:0.2287	.	273	Q8IXZ2	ZC3H3_HUMAN	T	273	ENSP00000262577:P273T	ENSP00000262577:P273T	P	-	1	0	ZC3H3	144691863	0.010000	0.17322	0.008000	0.14137	0.162000	0.22319	0.573000	0.23699	0.636000	0.30508	0.655000	0.94253	CCA		0.652	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117		18	144	18	144	---	---	---	---
C8orf82	414919	broad.mit.edu	37	8	145753101	145753101	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr8:145753101G>T	ENST00000524821.1	-	3	491	c.276C>A	c.(274-276)ttC>ttA	p.F92L	LRRC24_ENST00000529415.2_5'Flank|LRRC24_ENST00000533758.1_5'Flank|C8orf82_ENST00000313465.5_3'UTR			Q6P1X6	CH082_HUMAN	chromosome 8 open reading frame 82	92										endometrium(1)|urinary_tract(1)	2						AGAGGAAGGGGAAAGCGGCCT	0.687																																						ENST00000524821.1																			0				endometrium(1)|urinary_tract(1)	2						c.(274-276)ttC>ttA		chromosome 8 open reading frame 82							36.0	45.0	42.0					8																	145753101		2176	4289	6465	SO:0001583	missense	414919							g.chr8:145753101G>T		CCDS34970.1	8q24	2012-04-18			ENSG00000213563	ENSG00000213563			33826	protein-coding gene	gene with protein product						12477932	Standard	NM_001001795		Approved	MGC70857	uc003zdp.1	Q6P1X6	OTTHUMG00000165181	ENST00000524821.1:c.276C>A	8.37:g.145753101G>T	ENSP00000436621:p.Phe92Leu		Somatic				C8orf82_ENST00000313465.5_3'UTR	p.F92L			WXS	Illumina GAIIx	Phase_I	Q6P1X6	CH082_HUMAN			3	491	-			92					Q6GMR2|Q6P2Q7	Missense_Mutation	SNP	ENST00000524821.1	37	c.276C>A	CCDS34970.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.4|23.4	4.413822|4.413822	0.83449|0.83449	.|.	.|.	ENSG00000213563|ENSG00000213563	ENST00000524821|ENST00000532827	.|.	.|.	.|.	3.97|3.97	2.99|2.99	0.34606|0.34606	.|.	0.000000|.	0.56097|.	U|.	0.000023|.	T|T	0.68540|0.68540	0.3012|0.3012	M|M	0.84948|0.84948	2.725|2.725	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.996|.	D;D|.	0.83275|.	0.996;0.99|.	T|T	0.70396|0.70396	-0.4883|-0.4883	9|5	0.87932|.	D|.	0|.	-16.4116|-16.4116	5.7771|5.7771	0.18285|0.18285	0.153:0.0:0.847:0.0|0.153:0.0:0.847:0.0	.|.	84;92|.	Q6P1X6-2;Q6P1X6|.	.;CH082_HUMAN|.	L|T	92|137	.|.	ENSP00000436621:F92L|.	F|P	-|-	3|1	2|0	C8orf82|C8orf82	145723909|145723909	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.909000|0.909000	0.53808|0.53808	4.569000|4.569000	0.60865|0.60865	2.049000|2.049000	0.60858|0.60858	0.563000|0.563000	0.77884|0.77884	TTC|CCC		0.687	C8orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382503.1	NM_001001795		4	21	4	21	---	---	---	---
ADAMTSL2	9719	broad.mit.edu	37	9	136405789	136405789	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr9:136405789T>A	ENST00000354484.4	+	6	1039	c.482T>A	c.(481-483)cTc>cAc	p.L161H	ADAMTSL2_ENST00000393061.3_Missense_Mutation_p.L270H|ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.L161H	NM_001145320.1	NP_001138792.1	Q86TH1	ATL2_HUMAN	ADAMTS-like 2	161					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		CAGCGGCAGCTCATGGTCCCC	0.557																																						ENST00000393061.3																			0				kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14						c.(808-810)cTc>cAc		ADAMTS-like 2							56.0	45.0	49.0					9																	136405789		2203	4300	6503	SO:0001583	missense	9719				negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr9:136405789T>A	AB011177	CCDS6976.1	9q34.3	2005-01-12			ENSG00000197859	ENSG00000197859			14631	protein-coding gene	gene with protein product		612277				9628581, 14667842	Standard	NM_014694		Approved	KIAA0605	uc004cei.3	Q86TH1	OTTHUMG00000131706	ENST00000354484.4:c.482T>A	9.37:g.136405789T>A	ENSP00000346478:p.Leu161His		Somatic				ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.L161H|ADAMTSL2_ENST00000354484.4_Missense_Mutation_p.L161H	p.L270H			WXS	Illumina GAIIx	Phase_I	Q86TH1	ATL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)	6	1241	+			161					B1B0D5|O60345	Missense_Mutation	SNP	ENST00000354484.4	37	c.809T>A	CCDS6976.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.592613	0.86953	.	.	ENSG00000197859	ENST00000354484;ENST00000393061;ENST00000393060	T;T;T	0.59906	0.23;0.23;0.23	4.58	4.58	0.56647	.	0.000000	0.53938	U	0.000052	T	0.75781	0.3896	M	0.80332	2.49	0.53005	D	0.99996	D	0.89917	1.0	D	0.97110	1.0	T	0.77856	-0.2432	10	0.45353	T	0.12	.	13.9549	0.64142	0.0:0.0:0.0:1.0	.	161	Q86TH1	ATL2_HUMAN	H	161;270;161	ENSP00000346478:L161H;ENSP00000376781:L270H;ENSP00000376780:L161H	ENSP00000346478:L161H	L	+	2	0	ADAMTSL2	135395610	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.640000	0.83355	1.701000	0.51217	0.379000	0.24179	CTC		0.557	ADAMTSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254619.1	NM_014694		18	54	18	54	---	---	---	---
HNRNPF	3185	broad.mit.edu	37	10	43883242	43883242	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr10:43883242G>T	ENST00000544000.1	-	4	498	c.91C>A	c.(91-93)Ctc>Atc	p.L31I	HNRNPF_ENST00000357065.4_Missense_Mutation_p.L31I|HNRNPF_ENST00000337970.3_Missense_Mutation_p.L31I|HNRNPF_ENST00000498176.1_5'UTR|HNRNPF_ENST00000443950.2_Missense_Mutation_p.L31I|HNRNPF_ENST00000356053.3_Missense_Mutation_p.L31I	NM_001098207.1	NP_001091677.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	31	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						CAGTCAGAGAGGAAGTTCTGC	0.552																																						ENST00000443950.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						c.(91-93)Ctc>Atc		heterogeneous nuclear ribonucleoprotein F							69.0	67.0	68.0					10																	43883242		2203	4300	6503	SO:0001583	missense	3185				regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:43883242G>T		CCDS7204.1	10q11.21	2013-02-12		2008-04-18	ENSG00000169813	ENSG00000169813		"""RNA binding motif (RRM) containing"""	5039	protein-coding gene	gene with protein product		601037		HNRPF		7499401	Standard	NM_001098208		Approved		uc001jas.2	P52597	OTTHUMG00000018029	ENST00000544000.1:c.91C>A	10.37:g.43883242G>T	ENSP00000438061:p.Leu31Ile		Somatic				HNRNPF_ENST00000356053.3_Missense_Mutation_p.L31I|HNRNPF_ENST00000544000.1_Missense_Mutation_p.L31I|HNRNPF_ENST00000337970.3_Missense_Mutation_p.L31I|HNRNPF_ENST00000498176.1_5'UTR|HNRNPF_ENST00000357065.4_Missense_Mutation_p.L31I	p.L31I	NM_001098208.1	NP_001091678.1	WXS	Illumina GAIIx	Phase_I	P52597	HNRPF_HUMAN			3	577	-			31			RRM 1.		B3KM84|Q5T0N2|Q96AU2	Missense_Mutation	SNP	ENST00000544000.1	37	c.91C>A	CCDS7204.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.779602	0.31502	.	.	ENSG00000169813	ENST00000544000;ENST00000443950;ENST00000356053;ENST00000357065;ENST00000337970	T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45	4.17	4.17	0.49024	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.050562	0.85682	D	0.000000	T	0.44808	0.1311	M	0.77103	2.36	0.29448	N	0.858653	B	0.24317	0.101	B	0.43331	0.416	T	0.50857	-0.8778	10	0.87932	D	0	-13.1845	8.1057	0.30885	0.1065:0.0:0.8935:0.0	.	31	P52597	HNRPF_HUMAN	I	31	ENSP00000438061:L31I;ENSP00000400433:L31I;ENSP00000348345:L31I;ENSP00000349573:L31I;ENSP00000338477:L31I	ENSP00000338477:L31I	L	-	1	0	HNRNPF	43203248	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	2.503000	0.45407	2.615000	0.88500	0.650000	0.86243	CTC		0.552	HNRNPF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047705.2			5	57	5	57	---	---	---	---
SPTY2D1	144108	broad.mit.edu	37	11	18655745	18655745	+	Splice_Site	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr11:18655745C>A	ENST00000336349.5	-	1	295	c.60G>T	c.(58-60)ccG>ccT	p.P20P	SPTY2D1_ENST00000543776.1_Intron	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	20										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						TGCTACTTACCGGCACATTGT	0.562																																						ENST00000336349.5																			0				breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						c.(58-60)ccG>ccT		SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)							200.0	181.0	187.0					11																	18655745		2199	4293	6492	SO:0001630	splice_region_variant	144108							g.chr11:18655745C>A	BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.60+1G>T	11.37:g.18655745C>A			Somatic				SPTY2D1_ENST00000543776.1_Intron	p.P20P	NM_194285.2	NP_919261.2	WXS	Illumina GAIIx	Phase_I	Q68D10	SPT2_HUMAN			1	295	-			20					Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Splice_Site	SNP	ENST00000336349.5	37	c.60G>T	CCDS31441.1																																																																																				0.562	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395941.1	NM_194285	Silent	6	214	6	214	---	---	---	---
OR6T1	219874	broad.mit.edu	37	11	123813655	123813655	+	Silent	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr11:123813655C>A	ENST00000321252.2	-	1	925	c.891G>T	c.(889-891)gtG>gtT	p.V297V		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	297						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GTGCTTGCTGCACCTTGTCAT	0.502																																						ENST00000321252.2																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(889-891)gtG>gtT		olfactory receptor, family 6, subfamily T, member 1							200.0	182.0	188.0					11																	123813655		2202	4299	6501	SO:0001819	synonymous_variant	219874				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123813655C>A	AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"""GPCR / Class A : Olfactory receptors"""	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.891G>T	11.37:g.123813655C>A			Somatic					p.V297V	NM_001005187.1	NP_001005187.1	WXS	Illumina GAIIx	Phase_I	Q8NGN1	OR6T1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	925	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	297					Q6IFE7	Silent	SNP	ENST00000321252.2	37	c.891G>T	CCDS31700.1																																																																																				0.502	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387264.1	NM_001005187		26	295	26	295	---	---	---	---
ATP6V0A2	23545	broad.mit.edu	37	12	124212379	124212379	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr12:124212379A>C	ENST00000330342.3	+	6	819	c.571A>C	c.(571-573)Atg>Ctg	p.M191L		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	191					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		ATTTGAAAAAATGTTGTGGAG	0.408																																						ENST00000330342.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(571-573)Atg>Ctg		ATPase, H+ transporting, lysosomal V0 subunit a2							132.0	126.0	128.0					12																	124212379		2203	4300	6503	SO:0001583	missense	23545				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding	g.chr12:124212379A>C	AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"""ATPases / V-type"""	18481	protein-coding gene	gene with protein product	"""infantile malignant osteopetrosis"""	611716	"""infantile malignant osteopetrosis"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 2"", ""ATPase, H+ transporting, lysosomal V0 subunit A2"""			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.571A>C	12.37:g.124212379A>C	ENSP00000332247:p.Met191Leu		Somatic					p.M191L	NM_012463.3	NP_036595.2	WXS	Illumina GAIIx	Phase_I	Q9Y487	VPP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)	6	819	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		191					A8K026|Q6NUM0	Missense_Mutation	SNP	ENST00000330342.3	37	c.571A>C	CCDS9254.1	.	.	.	.	.	.	.	.	.	.	A	13.18	2.160915	0.38119	.	.	ENSG00000185344	ENST00000330342;ENST00000541854;ENST00000504192	D;D	0.84589	-1.87;-1.87	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.85792	0.5779	N	0.17764	0.52	0.80722	D	1	B;P	0.49696	0.003;0.927	B;D	0.66602	0.007;0.945	D	0.83580	0.0117	10	0.21014	T	0.42	-44.7046	16.2483	0.82460	1.0:0.0:0.0:0.0	.	191;191	Q9Y487;Q8TBM3	VPP2_HUMAN;.	L	191;191;61	ENSP00000332247:M191L;ENSP00000443441:M61L	ENSP00000332247:M191L	M	+	1	0	ATP6V0A2	122778332	1.000000	0.71417	0.750000	0.31169	0.990000	0.78478	9.263000	0.95617	2.237000	0.73441	0.459000	0.35465	ATG		0.408	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400765.2	NM_012463		23	61	23	61	---	---	---	---
MMP17	4326	broad.mit.edu	37	12	132335621	132335621	+	Silent	SNP	G	G	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr12:132335621G>T	ENST00000360564.1	+	10	1716	c.1614G>T	c.(1612-1614)gcG>gcT	p.A538A	MMP17_ENST00000535004.1_Silent_p.A78A|MMP17_ENST00000535291.1_Silent_p.A454A	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	538					positive regulation of catalytic activity (GO:0043085)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	Marimastat(DB00786)	GCGTGGACGCGGCAGAGGGGC	0.692																																						ENST00000360564.1																			0				endometrium(1)|large_intestine(3)|lung(1)	5						c.(1612-1614)gcG>gcT		matrix metallopeptidase 17 (membrane-inserted)							24.0	24.0	24.0					12																	132335621		2192	4295	6487	SO:0001819	synonymous_variant	4326				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr12:132335621G>T	X89576	CCDS31927.1	12q24.3	2005-08-08	2005-08-08		ENSG00000198598	ENSG00000198598			7163	protein-coding gene	gene with protein product		602285	"""matrix metalloproteinase 17 (membrane-inserted)"""			9878265	Standard	NM_016155		Approved	MT4-MMP	uc001ujc.1	Q9ULZ9	OTTHUMG00000168050	ENST00000360564.1:c.1614G>T	12.37:g.132335621G>T			Somatic				MMP17_ENST00000535004.1_Silent_p.A78A|MMP17_ENST00000535291.1_Silent_p.A454A	p.A538A	NM_016155.4	NP_057239.4	WXS	Illumina GAIIx	Phase_I	Q9ULZ9	MMP17_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	10	1716	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		538					Q14850	Silent	SNP	ENST00000360564.1	37	c.1614G>T	CCDS31927.1																																																																																				0.692	MMP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397757.1	NM_016155		3	21	3	21	---	---	---	---
FRY	10129	broad.mit.edu	37	13	32676131	32676131	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr13:32676131G>T	ENST00000380250.3	+	3	798	c.302G>T	c.(301-303)gGa>gTa	p.G101V		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	101						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CTGCAACGTGGAGAAGACCCC	0.333																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(301-303)gGa>gTa		furry homolog (Drosophila)							109.0	110.0	110.0					13																	32676131		1848	4092	5940	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32676131G>T	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.302G>T	13.37:g.32676131G>T	ENSP00000369600:p.Gly101Val		Somatic					p.G101V	NM_023037.2	NP_075463.2	WXS	Illumina GAIIx	Phase_I	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	3	798	+		Lung SC(185;0.0271)	101					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.302G>T	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785067	0.70222	.	.	ENSG00000073910	ENST00000380250;ENST00000436046;ENST00000267067	T	0.51574	0.7	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.72003	0.3407	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76992	-0.2753	10	0.87932	D	0	.	15.6974	0.77512	0.0:0.0:1.0:0.0	.	101	Q5TBA9	FRY_HUMAN	V	101;98;67	ENSP00000369600:G101V	ENSP00000267067:G67V	G	+	2	0	FRY	31574131	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.595000	0.74109	2.547000	0.85894	0.655000	0.94253	GGA		0.333	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		5	78	5	78	---	---	---	---
SERPINA13P	388007	broad.mit.edu	37	14	95109845	95109845	+	RNA	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr14:95109845C>A	ENST00000469935.1	+	0	882					NR_015340.1		Q6UXR4	SPA13_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13, pseudogene						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)										GCCACCAGCCCAAAGGAGTTC	0.577																																						ENST00000469935.1																			0																				80.0	65.0	70.0					14																	95109845		2203	4300	6503			388007							g.chr14:95109845C>A	AY358238		14q32.13	2014-02-18	2012-10-03	2012-10-03	ENSG00000187483	ENSG00000187483		"""Serine (or cysteine) peptidase inhibitors"""	30909	pseudogene	pseudogene			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13"", ""serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13"""	SERPINA13		15014966, 16395595, 24172014	Standard	NR_015340		Approved	UNQ6121	uc001ydt.3	Q6UXR4	OTTHUMG00000150191		14.37:g.95109845C>A			Somatic						NR_015340.1		WXS	Illumina GAIIx	Phase_I					0	882	+									RNA	SNP	ENST00000469935.1	37																																																																																						0.577	SERPINA13P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000316754.1	NR_015340		4	61	4	61	---	---	---	---
VPS13C	54832	broad.mit.edu	37	15	62204152	62204152	+	Missense_Mutation	SNP	G	G	C	rs192667052		TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr15:62204152G>C	ENST00000261517.5	-	63	8675	c.8602C>G	c.(8602-8604)Ctg>Gtg	p.L2868V	RN7SL613P_ENST00000584412.1_RNA|VPS13C_ENST00000395898.3_Missense_Mutation_p.L2825V|VPS13C_ENST00000395896.4_Missense_Mutation_p.L2868V|VPS13C_ENST00000249837.3_Missense_Mutation_p.L2825V	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AAGGGAGTCAGGGTAACTATT	0.368																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(8602-8604)Ctg>Gtg		vacuolar protein sorting 13 homolog C (S. cerevisiae)							121.0	115.0	117.0					15																	62204152		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62204152G>C	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.8602C>G	15.37:g.62204152G>C	ENSP00000261517:p.Leu2868Val		Somatic				VPS13C_ENST00000395896.4_Missense_Mutation_p.L2868V|VPS13C_ENST00000395898.3_Missense_Mutation_p.L2825V|VPS13C_ENST00000249837.3_Missense_Mutation_p.L2825V	p.L2868V	NM_020821.2	NP_065872.1	WXS	Illumina GAIIx	Phase_I	Q709C8	VP13C_HUMAN			63	8675	-			2868						Missense_Mutation	SNP	ENST00000261517.5	37	c.8602C>G	CCDS32257.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	16.68	3.189727	0.57909	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.35605	1.3;1.3;1.3	5.71	3.74	0.42951	Vacuolar protein sorting-associated protein (1);	0.192926	0.45606	D	0.000349	T	0.36054	0.0953	L	0.59436	1.845	0.37134	D	0.901406	B;B;B;P;P	0.41524	0.185;0.393;0.321;0.753;0.571	B;B;B;B;B	0.42959	0.281;0.281;0.281;0.281;0.403	T	0.34004	-0.9846	10	0.46703	T	0.11	.	8.5526	0.33460	0.3299:0.0:0.6701:0.0	.	2868;2825;2868;2825;2868	F5GZG8;Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;.;VP13C_HUMAN	V	2825;2868;2868;2868	ENSP00000249837:L2825V;ENSP00000261517:L2868V;ENSP00000379233:L2868V	ENSP00000249837:L2825V	L	-	1	2	VPS13C	59991444	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	2.368000	0.44222	0.672000	0.31204	0.491000	0.48974	CTG		0.368	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		12	53	12	53	---	---	---	---
SMAD6	4091	broad.mit.edu	37	15	67073658	67073658	+	Missense_Mutation	SNP	G	G	T	rs376580255		TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr15:67073658G>T	ENST00000288840.5	+	4	2307	c.1276G>T	c.(1276-1278)Gtc>Ttc	p.V426F	SMAD6_ENST00000338426.4_Missense_Mutation_p.V165F	NM_005585.4	NP_005576.3	O43541	SMAD6_HUMAN	SMAD family member 6	426	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				BMP signaling pathway (GO:0030509)|cell-substrate adhesion (GO:0031589)|fat cell differentiation (GO:0045444)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|response to estrogen (GO:0043627)|response to laminar fluid shear stress (GO:0034616)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity (GO:0030617)|type I activin receptor binding (GO:0070698)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			lung(1)|skin(1)	2						CCGCGCCCTGGTCGTGCGCAA	0.731																																					Esophageal Squamous(179;72 2004 22333 39628 47290)	ENST00000288840.5																			0				lung(1)|skin(1)	2						c.(1276-1278)Gtc>Ttc		SMAD family member 6							10.0	15.0	13.0					15																	67073658		2141	4153	6294	SO:0001583	missense	4091				BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	g.chr15:67073658G>T	BC012986	CCDS10221.1	15q22.31	2014-09-11	2006-11-06	2004-05-26	ENSG00000137834	ENSG00000137834		"""SMADs"""	6772	protein-coding gene	gene with protein product		602931	"""MAD, mothers against decapentaplegic homolog 6 (Drosophila)"", ""SMAD, mothers against DPP homolog 6 (Drosophila)"""	MADH7, MADH6		9256479	Standard	NR_027654		Approved	HsT17432	uc002aqf.3	O43541	OTTHUMG00000133218	ENST00000288840.5:c.1276G>T	15.37:g.67073658G>T	ENSP00000288840:p.Val426Phe		Somatic				SMAD6_ENST00000338426.4_Missense_Mutation_p.V165F	p.V426F	NM_005585.4	NP_005576.3	WXS	Illumina GAIIx	Phase_I	O43541	SMAD6_HUMAN			4	2307	+			426			MH2.		A9J6M5|O43654|Q15799|Q7Z7L4|Q96E31|Q9UKZ3	Missense_Mutation	SNP	ENST00000288840.5	37	c.1276G>T	CCDS10221.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.693744	0.68386	.	.	ENSG00000137834	ENST00000288840;ENST00000338426	D;D	0.98807	-4.98;-5.15	5.62	3.5	0.40072	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.120276	0.56097	D	0.000022	D	0.97102	0.9053	L	0.54323	1.7	0.58432	D	0.999993	P;P	0.46952	0.887;0.459	P;B	0.45794	0.493;0.232	D	0.95965	0.8965	10	0.66056	D	0.02	.	7.8775	0.29603	0.1289:0.1752:0.6959:0.0	.	165;426	O43541-2;O43541	.;SMAD6_HUMAN	F	426;165	ENSP00000288840:V426F;ENSP00000345054:V165F	ENSP00000288840:V426F	V	+	1	0	SMAD6	64860712	1.000000	0.71417	0.946000	0.38457	0.994000	0.84299	3.335000	0.52105	1.367000	0.46095	0.491000	0.48974	GTC		0.731	SMAD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256953.2	NM_005585		9	42	9	42	---	---	---	---
PCSK6	5046	broad.mit.edu	37	15	101983834	101983834	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr15:101983834T>C	ENST00000348070.1	-	3	325	c.326A>G	c.(325-327)tAt>tGt	p.Y109C	PCSK6_ENST00000398181.2_Missense_Mutation_p.Y109C|PCSK6_ENST00000344273.2_Missense_Mutation_p.Y109C|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Missense_Mutation_p.Y109C	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	110					determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTTGCTGTGATAAAAATGGTA	0.443																																						ENST00000348070.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(325-327)tAt>tGt		proprotein convertase subtilisin/kexin type 6							147.0	151.0	150.0					15																	101983834		1890	4093	5983	SO:0001583	missense	5046				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	g.chr15:101983834T>C		CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"""subtilisin-like protease"", ""subtilisin-like proprotein convertase 4"", ""subtilisin/kexin-like protease PACE4"""	167405	"""paired basic amino acid cleaving system 4"""	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.326A>G	15.37:g.101983834T>C	ENSP00000305056:p.Tyr109Cys		Somatic				PCSK6_ENST00000398181.2_Missense_Mutation_p.Y109C|PCSK6_ENST00000344273.2_Missense_Mutation_p.Y109C|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Missense_Mutation_p.Y109C	p.Y109C	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	WXS	Illumina GAIIx	Phase_I	P29122	PCSK6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		3	325	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		110					Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Missense_Mutation	SNP	ENST00000348070.1	37	c.326A>G		.	.	.	.	.	.	.	.	.	.	T	18.01	3.526823	0.64860	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185;ENST00000344273;ENST00000398181	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.92	5.92	0.95590	Proteinase inhibitor, propeptide (1);	0.193942	0.45361	D	0.000371	T	0.58552	0.2130	L	0.57536	1.79	0.42570	D	0.993171	D;D;D;D;D;D;D;D	0.76494	0.994;0.983;0.995;0.991;0.991;0.999;0.995;0.97	P;P;P;P;P;D;D;P	0.65874	0.707;0.662;0.818;0.662;0.662;0.939;0.917;0.765	T	0.57894	-0.7732	10	0.41790	T	0.15	-26.2029	14.3302	0.66550	0.0:0.0:0.0:1.0	.	110;109;110;109;109;110;110;109	P29122;E7EUC8;P29122-4;E7EWH5;E7EQ62;P29122-8;P29122-7;E7EM82	PCSK6_HUMAN;.;.;.;.;.;.;.	C	109;109;14;109;109	ENSP00000305056:Y109C;ENSP00000351193:Y109C;ENSP00000344410:Y109C;ENSP00000381243:Y109C	ENSP00000344410:Y109C	Y	-	2	0	PCSK6	99801357	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	1.953000	0.40352	2.277000	0.76020	0.528000	0.53228	TAT		0.443	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570		26	169	26	169	---	---	---	---
IRF8	3394	broad.mit.edu	37	16	85936654	85936654	+	Silent	SNP	A	A	C			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr16:85936654A>C	ENST00000268638.5	+	2	455	c.33A>C	c.(31-33)cgA>cgC	p.R11R	IRF8_ENST00000563180.1_Silent_p.R11R	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	11					cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GGCGGCTTCGACAGTGGCTGA	0.488																																						ENST00000268638.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24						c.(31-33)cgA>cgC		interferon regulatory factor 8							167.0	167.0	167.0					16																	85936654		2198	4300	6498	SO:0001819	synonymous_variant	3394				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:85936654A>C	M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"""interferon consensus sequence binding protein 1"""	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.33A>C	16.37:g.85936654A>C			Somatic				IRF8_ENST00000563180.1_Silent_p.R11R	p.R11R	NM_002163.2	NP_002154.1	WXS	Illumina GAIIx	Phase_I	Q02556	IRF8_HUMAN			2	455	+		Prostate(104;0.0771)	11					A0AV82	Silent	SNP	ENST00000268638.5	37	c.33A>C	CCDS10956.1																																																																																				0.488	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	NM_002163		27	167	27	167	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578404	7578404	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr17:7578404A>G	ENST00000269305.4	-	5	715	c.526T>C	c.(526-528)Tgc>Cgc	p.C176R	TP53_ENST00000455263.2_Missense_Mutation_p.C176R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.C176R|TP53_ENST00000413465.2_Missense_Mutation_p.C176R|TP53_ENST00000445888.2_Missense_Mutation_p.C176R|TP53_ENST00000420246.2_Missense_Mutation_p.C176R	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	176	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:8829627, ECO:0000269|PubMed:9450901}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|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)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C176S(10)|p.C176R(8)|p.0?(8)|p.C176fs*71(7)|p.C176G(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C176fs*5(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.C44G(1)|p.R42fs*24(1)|p.C176fs*72(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.C83G(1)|p.C176fs*6(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGGTGGGGGCAGCGCCTCACA	0.647		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		80	Substitution - Missense(26)|Deletion - Frameshift(25)|Deletion - In frame(13)|Whole gene deletion(8)|Insertion - Frameshift(5)|Complex - deletion inframe(3)	p.C176S(10)|p.C176R(8)|p.0?(8)|p.C176fs*71(7)|p.C176G(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C176fs*5(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.C44G(1)|p.R42fs*24(1)|p.C176fs*72(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.C83G(1)|p.C176fs*6(1)|p.R174fs*3(1)	breast(18)|haematopoietic_and_lymphoid_tissue(13)|oesophagus(10)|upper_aerodigestive_tract(8)|large_intestine(8)|stomach(4)|lung(4)|liver(4)|bone(4)|central_nervous_system(3)|ovary(2)|biliary_tract(1)|prostate(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(526-528)Tgc>Cgc	Other conserved DNA damage response genes	tumor protein p53							49.0	49.0	49.0					17																	7578404		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578404A>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.526T>C	17.37:g.7578404A>G	ENSP00000269305:p.Cys176Arg	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	Somatic				TP53_ENST00000359597.4_Missense_Mutation_p.C176R|TP53_ENST00000413465.2_Missense_Mutation_p.C176R|TP53_ENST00000445888.2_Missense_Mutation_p.C176R|TP53_ENST00000269305.4_Missense_Mutation_p.C176R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.C176R	p.C176R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina GAIIx	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	658	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	176		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.526T>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.656019	0.88056	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99982	-10.62;-10.62;-10.62;-10.62;-10.62;-10.62;-10.62;-10.62	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.092184	0.85682	D	0.000000	D	0.99981	0.9994	M	0.92923	3.36	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.992;0.994;1.0;0.996;0.994;0.999	D	0.96412	0.9305	10	0.87932	D	0	-18.1821	14.037	0.64651	1.0:0.0:0.0:0.0	.	137;176;176;83;176;176;176	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	176;176;176;176;176;176;165;83;44;83;44	ENSP00000410739:C176R;ENSP00000352610:C176R;ENSP00000269305:C176R;ENSP00000398846:C176R;ENSP00000391127:C176R;ENSP00000391478:C176R;ENSP00000425104:C44R;ENSP00000423862:C83R	ENSP00000269305:C176R	C	-	1	0	TP53	7519129	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	9.287000	0.95975	2.263000	0.75096	0.533000	0.62120	TGC		0.647	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		22	56	22	56	---	---	---	---
TNS4	84951	broad.mit.edu	37	17	38638448	38638448	+	Silent	SNP	A	A	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr17:38638448A>T	ENST00000254051.6	-	8	1763	c.1605T>A	c.(1603-1605)tcT>tcA	p.S535S		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	535	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic process (GO:0006915)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			ACACGAAGGCAGAGAGGCTCC	0.622																																						ENST00000254051.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30						c.(1603-1605)tcT>tcA		tensin 4							57.0	53.0	54.0					17																	38638448		2203	4300	6503	SO:0001819	synonymous_variant	84951				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr17:38638448A>T	AF417488	CCDS11368.1	17q21.2	2013-02-14			ENSG00000131746	ENSG00000131746		"""SH2 domain containing"""	24352	protein-coding gene	gene with protein product	"""C terminal tensin like"""	608385				12154022, 12711115	Standard	NM_032865		Approved	CTEN	uc010cxb.3	Q8IZW8	OTTHUMG00000133330	ENST00000254051.6:c.1605T>A	17.37:g.38638448A>T			Somatic					p.S535S	NM_032865.5	NP_116254.4	WXS	Illumina GAIIx	Phase_I	Q8IZW8	TENS4_HUMAN	STAD - Stomach adenocarcinoma(5;5.91e-05)		8	1763	-		Breast(137;0.000496)	535			SH2.		A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Silent	SNP	ENST00000254051.6	37	c.1605T>A	CCDS11368.1																																																																																				0.622	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257154.3	NM_032865		4	47	4	47	---	---	---	---
ITGB4	3691	broad.mit.edu	37	17	73725380	73725380	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr17:73725380T>G	ENST00000200181.3	+	7	788	c.601T>G	c.(601-603)Ttc>Gtc	p.F201V	ITGB4_ENST00000339591.3_Missense_Mutation_p.F201V|ITGB4_ENST00000579662.1_Missense_Mutation_p.F201V|ITGB4_ENST00000450894.3_Missense_Mutation_p.F201V|ITGB4_ENST00000449880.2_Missense_Mutation_p.F201V|ITGB4_ENST00000584558.1_3'UTR	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	201	VWFA.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGACCCCCCCTTCTCCTTCAA	0.607																																						ENST00000200181.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43						c.(601-603)Ttc>Gtc		integrin, beta 4							94.0	84.0	87.0					17																	73725380		2203	4300	6503	SO:0001583	missense	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73725380T>G		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.601T>G	17.37:g.73725380T>G	ENSP00000200181:p.Phe201Val		Somatic				ITGB4_ENST00000579662.1_Missense_Mutation_p.F201V|ITGB4_ENST00000450894.3_Missense_Mutation_p.F201V|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000449880.2_Missense_Mutation_p.F201V|ITGB4_ENST00000339591.3_Missense_Mutation_p.F201V	p.F201V	NM_000213.3	NP_000204.3	WXS	Illumina GAIIx	Phase_I	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		7	788	+	all_cancers(13;1.5e-07)		201			VWFA.		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	c.601T>G	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	T	16.14	3.038506	0.55003	.	.	ENSG00000132470	ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880	D;D;D	0.95103	-3.61;-3.61;-3.61	5.58	5.58	0.84498	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.97879	0.9303	H	0.94620	3.56	0.80722	D	1	D;D;D;D	0.67145	0.958;0.995;0.996;0.996	P;P;D;D	0.66196	0.73;0.904;0.942;0.942	D	0.99047	1.0826	10	0.87932	D	0	.	15.7406	0.77891	0.0:0.0:0.0:1.0	.	201;201;201;201	P16144-5;P16144-3;A0AVL6;P16144	.;.;.;ITB4_HUMAN	V	117;201;201;201	ENSP00000200181:F201V;ENSP00000344079:F201V;ENSP00000400217:F201V	ENSP00000200181:F201V	F	+	1	0	ITGB4	71236975	1.000000	0.71417	0.934000	0.37439	0.993000	0.82548	7.979000	0.88103	2.121000	0.65114	0.533000	0.62120	TTC		0.607	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			11	71	11	71	---	---	---	---
PYCR1	5831	broad.mit.edu	37	17	79892256	79892256	+	Missense_Mutation	SNP	C	C	A	rs281875319		TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr17:79892256C>A	ENST00000329875.8	-	6	807	c.743G>T	c.(742-744)gGg>gTg	p.G248V	PYCR1_ENST00000402252.2_Missense_Mutation_p.G275V|RP11-498C9.13_ENST00000583521.1_RNA|PYCR1_ENST00000577756.1_Intron|PYCR1_ENST00000337943.5_Missense_Mutation_p.G248V|PYCR1_ENST00000403172.4_Missense_Mutation_p.G217V	NM_001282280.1|NM_001282281.1|NM_006907.2	NP_001269209.1|NP_001269210.1|NP_008838.2	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1	248			G -> E (in ARCL3B; results in a reduction of protein expression in skin fibroblasts from the patient; dbSNP:rs281875319). {ECO:0000269|PubMed:22052856}.		cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to oxidative stress (GO:0034599)|L-proline biosynthetic process (GO:0055129)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|proline biosynthetic process (GO:0006561)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|pyrroline-5-carboxylate reductase activity (GO:0004735)			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)	GCGGAAGCCCCCACTCTCCAG	0.642																																						ENST00000337943.5																			0				endometrium(2)|kidney(1)|lung(1)|prostate(1)	5						c.(742-744)gGg>gTg		pyrroline-5-carboxylate reductase 1	L-Proline(DB00172)|NADH(DB00157)						53.0	46.0	49.0					17																	79892256		2202	4298	6500	SO:0001583	missense	5831				cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity	g.chr17:79892256C>A		CCDS11794.1, CCDS11795.1, CCDS62365.1, CCDS62366.1	17q25.3	2013-09-23			ENSG00000183010	ENSG00000183010	1.5.1.2		9721	protein-coding gene	gene with protein product		179035				1730675	Standard	XM_005256381		Approved	P5C	uc002kcr.1	P32322	OTTHUMG00000178436	ENST00000329875.8:c.743G>T	17.37:g.79892256C>A	ENSP00000328858:p.Gly248Val		Somatic				PYCR1_ENST00000329875.8_Missense_Mutation_p.G248V|PYCR1_ENST00000577756.1_Intron|PYCR1_ENST00000402252.2_Missense_Mutation_p.G275V|PYCR1_ENST00000403172.4_Missense_Mutation_p.G217V	p.G248V	NM_153824.1	NP_722546.1	WXS	Illumina GAIIx	Phase_I	P32322	P5CR1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		6	1185	-	all_neural(118;0.0878)|Ovarian(332;0.12)		248					A6NFM2|B4DMU0|Q6FHI4|Q96DI6|Q9HBQ4	Missense_Mutation	SNP	ENST00000329875.8	37	c.743G>T	CCDS11795.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.6|22.6	4.312435|4.312435	0.81358|0.81358	.|.	.|.	ENSG00000183010|ENSG00000183010	ENST00000337943;ENST00000329875;ENST00000402252;ENST00000405481|ENST00000403172	D;D;D|.	0.85258|.	-1.96;-1.96;-1.96|.	3.47|3.47	3.47|3.47	0.39725|0.39725	6-phosphogluconate dehydrogenase, C-terminal-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79747|0.79747	0.4499|0.4499	M|M	0.88031|0.88031	2.925|2.925	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	0.996;0.999;1.0;1.0;1.0|.	D;D;D;D;D|.	0.68943|.	0.921;0.939;0.939;0.939;0.961|.	D|D	0.84749|0.84749	0.0755|0.0755	10|6	0.62326|0.62326	D|D	0.03|0.03	.|.	15.159|15.159	0.72767|0.72767	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	189;275;248;248;248|.	B7Z8T1;B4DMU0;E7D7X9;P32322;A6NFM2|.	.;.;.;P5CR1_HUMAN;.|.	V|C	248;248;275;189|248	ENSP00000336579:G248V;ENSP00000328858:G248V;ENSP00000384949:G275V|.	ENSP00000328858:G248V|ENSP00000385483:W248C	G|W	-|-	2|3	0|0	PYCR1|PYCR1	77485547|77485547	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.925000|0.925000	0.55904|0.55904	7.427000|7.427000	0.80284|0.80284	1.780000|1.780000	0.52325|0.52325	0.561000|0.561000	0.74099|0.74099	GGG|TGG		0.642	PYCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441953.1			4	38	4	38	---	---	---	---
CEP76	79959	broad.mit.edu	37	18	12678245	12678245	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr18:12678245T>C	ENST00000262127.2	-	10	1711	c.1486A>G	c.(1486-1488)Att>Gtt	p.I496V	PSMG2_ENST00000589405.1_Intron|PSMG2_ENST00000585331.2_Intron|CEP76_ENST00000423709.2_Missense_Mutation_p.I421V	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	496					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ACAGATTTAATTGCTTCCTCA	0.433																																						ENST00000262127.2																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1486-1488)Att>Gtt		centrosomal protein 76kDa							259.0	241.0	247.0					18																	12678245		2203	4300	6503	SO:0001583	missense	79959				G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding	g.chr18:12678245T>C	BC026307	CCDS11861.1, CCDS62390.1	18p11.21	2014-02-20	2005-12-01	2005-12-01	ENSG00000101624	ENSG00000101624			25727	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 9"""	C18orf9		14654843	Standard	NM_024899		Approved	HsT1705, FLJ12542	uc002kri.4	Q8TAP6	OTTHUMG00000131701	ENST00000262127.2:c.1486A>G	18.37:g.12678245T>C	ENSP00000262127:p.Ile496Val		Somatic				CEP76_ENST00000423709.2_Missense_Mutation_p.I421V|PSMG2_ENST00000589405.1_Intron|PSMG2_ENST00000585331.2_Intron	p.I496V	NM_024899.2	NP_079175.2	WXS	Illumina GAIIx	Phase_I	Q8TAP6	CEP76_HUMAN			10	1711	-			496					B0YJB2|B4DXG5|B4DZW1|Q658N5|Q9H9U7	Missense_Mutation	SNP	ENST00000262127.2	37	c.1486A>G	CCDS11861.1	.	.	.	.	.	.	.	.	.	.	T	12.51	1.958231	0.34565	.	.	ENSG00000101624	ENST00000262127;ENST00000423709	D;D	0.91011	-2.77;-2.77	5.65	4.49	0.54785	.	0.166001	0.53938	N	0.000054	D	0.84238	0.5428	L	0.35414	1.06	0.42701	D	0.993614	B;B	0.20887	0.049;0.018	B;B	0.20184	0.028;0.016	T	0.77360	-0.2617	10	0.22706	T	0.39	-13.7675	11.5277	0.50591	0.0:0.0701:0.0:0.9299	.	421;496	Q8TAP6-2;Q8TAP6	.;CEP76_HUMAN	V	496;421	ENSP00000262127:I496V;ENSP00000403074:I421V	ENSP00000262127:I496V	I	-	1	0	CEP76	12668245	1.000000	0.71417	0.991000	0.47740	0.963000	0.63663	3.408000	0.52651	0.974000	0.38366	0.482000	0.46254	ATT		0.433	CEP76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254611.1	NM_024899		40	122	40	122	---	---	---	---
ZNF236	7776	broad.mit.edu	37	18	74587566	74587566	+	Silent	SNP	C	C	A	rs190039167		TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr18:74587566C>A	ENST00000253159.8	+	6	978	c.780C>A	c.(778-780)gcC>gcA	p.A260A	ZNF236_ENST00000320610.9_Silent_p.A262A	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	260					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TCTGTCCTGCCGCCTTCTCTC	0.532											OREG0025069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000253159.8																			0				NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94						c.(778-780)gcC>gcA		zinc finger protein 236							122.0	124.0	123.0					18																	74587566		2026	4179	6205	SO:0001819	synonymous_variant	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74587566C>A	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.780C>A	18.37:g.74587566C>A			Somatic	OREG0025069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1154	ZNF236_ENST00000320610.9_Silent_p.A262A	p.A260A	NM_007345.3	NP_031371.3	WXS	Illumina GAIIx	Phase_I	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	6	978	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	260					B2RTX9|Q9UL37	Silent	SNP	ENST00000253159.8	37	c.780C>A	CCDS42447.1																																																																																				0.532	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			4	137	4	137	---	---	---	---
NWD1	284434	broad.mit.edu	37	19	16902377	16902377	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr19:16902377T>G	ENST00000552788.1	+	12	3157	c.3157T>G	c.(3157-3159)Tca>Gca	p.S1053A	NWD1_ENST00000523826.1_Missense_Mutation_p.S847A|NWD1_ENST00000549814.1_Missense_Mutation_p.S1053A|NWD1_ENST00000524140.2_Missense_Mutation_p.S1053A|NWD1_ENST00000339803.6_Missense_Mutation_p.S918A|NWD1_ENST00000379808.3_Missense_Mutation_p.S1053A			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1053							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTGTGCCGTCTCAGTCCAGAA	0.478																																						ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(3157-3159)Tca>Gca		NACHT and WD repeat domain containing 1							127.0	102.0	110.0					19																	16902377		2203	4300	6503	SO:0001583	missense	284434						ATP binding	g.chr19:16902377T>G	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.3157T>G	19.37:g.16902377T>G	ENSP00000447224:p.Ser1053Ala		Somatic				NWD1_ENST00000549814.1_Missense_Mutation_p.S1053A|NWD1_ENST00000523826.1_Missense_Mutation_p.S847A|NWD1_ENST00000339803.6_Missense_Mutation_p.S918A|NWD1_ENST00000379808.3_Missense_Mutation_p.S1053A|NWD1_ENST00000552788.1_Missense_Mutation_p.S1053A	p.S1053A	NM_001007525.3	NP_001007526.3	WXS	Illumina GAIIx	Phase_I	Q149M9	NWD1_HUMAN			14	3575	+			1053					C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.3157T>G		.	.	.	.	.	.	.	.	.	.	T	10.29	1.310173	0.23821	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.70045	1.62;-0.45;1.62;3.61;3.61;3.61	5.34	-2.06	0.07298	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.935674	0.09035	N	0.858091	T	0.41442	0.1159	L	0.29908	0.895	0.09310	N	1	B;B;B	0.19817	0.023;0.026;0.039	B;B;B	0.19391	0.007;0.025;0.016	T	0.33137	-0.9880	10	0.02654	T	1	0.0603	1.2489	0.01978	0.1304:0.2513:0.2938:0.3245	.	1053;1053;918	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	A	918;1053;1053;1053;847;1053;918	ENSP00000428579:S1053A;ENSP00000447548:S1053A;ENSP00000369136:S1053A;ENSP00000428955:S847A;ENSP00000447224:S1053A;ENSP00000340159:S918A	ENSP00000340159:S918A	S	+	1	0	NWD1	16763377	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.175000	0.09825	-0.855000	0.04125	-0.316000	0.08728	TCA		0.478	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		13	141	13	141	---	---	---	---
LILRA1	11024	broad.mit.edu	37	19	55106382	55106382	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr19:55106382C>T	ENST00000251372.3	+	4	505	c.323C>T	c.(322-324)tCa>tTa	p.S108L	LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000453777.1_Missense_Mutation_p.S108L|LILRA1_ENST00000473156.1_3'UTR	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	108	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GCAGGCTGGTCAGAGCCCAGT	0.612																																						ENST00000453777.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47						c.(322-324)tCa>tTa		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1							75.0	74.0	74.0					19																	55106382		2203	4300	6503	SO:0001583	missense	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55106382C>T	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.323C>T	19.37:g.55106382C>T	ENSP00000251372:p.Ser108Leu		Somatic				LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000251372.3_Missense_Mutation_p.S108L|LILRB1_ENST00000396321.2_Intron	p.S108L	NM_001278318.1	NP_001265247.1	WXS	Illumina GAIIx	Phase_I	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	4	493	+			108			Ig-like C2-type 1.		O75018|Q3MJA6	Missense_Mutation	SNP	ENST00000251372.3	37	c.323C>T	CCDS12901.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.069462	0.36470	.	.	ENSG00000104974	ENST00000251372;ENST00000453777	T;T	0.01145	5.27;5.27	1.58	0.493	0.16878	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.412660	0.17854	N	0.159743	T	0.10594	0.0259	H	0.99325	4.515	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.13308	-1.0514	10	0.87932	D	0	.	3.9146	0.09217	0.0:0.7618:0.0:0.2382	.	108;108	O75019-2;O75019	.;LIRA1_HUMAN	L	108	ENSP00000251372:S108L;ENSP00000413715:S108L	ENSP00000251372:S108L	S	+	2	0	LILRA1	59798194	0.262000	0.24073	0.005000	0.12908	0.007000	0.05969	0.914000	0.28624	0.226000	0.20979	0.194000	0.17425	TCA		0.612	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		28	72	28	72	---	---	---	---
ZNF551	90233	broad.mit.edu	37	19	58198616	58198616	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr19:58198616C>A	ENST00000282296.5	+	3	1158	c.973C>A	c.(973-975)Cac>Aac	p.H325N	AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.H309N|AC003006.7_ENST00000599221.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	325					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(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ATTCATTCACCACCAGAGACG	0.428																																						ENST00000282296.5																			0				endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15						c.(973-975)Cac>Aac		zinc finger protein 551							88.0	85.0	86.0					19																	58198616		2203	4300	6503	SO:0001583	missense	90233				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58198616C>A	BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"""Zinc fingers, C2H2-type"", ""-"""	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.973C>A	19.37:g.58198616C>A	ENSP00000282296:p.His325Asn		Somatic				AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.H309N	p.H325N			WXS	Illumina GAIIx	Phase_I	Q7Z340	ZN551_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	1158	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	325					B4DU22|P17034|Q8N246|Q9BRY1	Missense_Mutation	SNP	ENST00000282296.5	37	c.973C>A	CCDS12959.2	.	.	.	.	.	.	.	.	.	.	C	14.49	2.551180	0.45383	.	.	ENSG00000204519	ENST00000356715;ENST00000282296	.	.	.	2.57	1.5	0.22942	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.77287	0.4108	H	0.95884	3.735	0.09310	N	1	D	0.76494	0.999	D	0.69654	0.965	T	0.65187	-0.6229	8	0.87932	D	0	.	8.4206	0.32698	0.0:0.8729:0.0:0.1271	.	325	Q7Z340	ZN551_HUMAN	N	325;309	.	ENSP00000282296:H309N	H	+	1	0	ZNF551	62890428	0.968000	0.33430	0.000000	0.03702	0.005000	0.04900	4.768000	0.62293	0.424000	0.26061	0.561000	0.74099	CAC		0.428	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466803.2	NM_138347		4	91	4	91	---	---	---	---
TUBGCP6	85378	broad.mit.edu	37	22	50658944	50658944	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr22:50658944G>C	ENST00000248846.5	-	16	3948	c.3844C>G	c.(3844-3846)Ctc>Gtc	p.L1282V	TUBGCP6_ENST00000439308.2_Missense_Mutation_p.L1282V|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1282					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TCTGGTGAGAGAGCCCCCAGC	0.652																																						ENST00000439308.2																			0				breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45						c.(3844-3846)Ctc>Gtc		tubulin, gamma complex associated protein 6							28.0	29.0	29.0					22																	50658944		2203	4300	6503	SO:0001583	missense	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50658944G>C	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.3844C>G	22.37:g.50658944G>C	ENSP00000248846:p.Leu1282Val		Somatic				TUBGCP6_ENST00000248846.5_Missense_Mutation_p.L1282V|TUBGCP6_ENST00000491449.1_5'UTR	p.L1282V	NM_020461.3	NP_065194.2	WXS	Illumina GAIIx	Phase_I	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	16	4336	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1282					Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	c.3844C>G	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	G	3.820	-0.037857	0.07497	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.18016	3.07;2.24	4.65	1.22	0.21188	.	23.731100	0.00166	N	0.000000	T	0.13329	0.0323	N	0.11927	0.2	0.09310	N	1	B;B;B	0.23128	0.037;0.08;0.065	B;B;B	0.28305	0.088;0.088;0.079	T	0.36696	-0.9737	10	0.22706	T	0.39	.	11.9397	0.52894	0.0699:0.2309:0.6993:0.0	.	1274;1282;1282	B2RWN4;Q96RT7;Q96RT7-3	.;GCP6_HUMAN;.	V	1282	ENSP00000248846:L1282V;ENSP00000397387:L1282V	ENSP00000248846:L1282V	L	-	1	0	TUBGCP6	49001071	0.013000	0.17824	0.000000	0.03702	0.000000	0.00434	1.896000	0.39789	0.211000	0.20683	-1.872000	0.00552	CTC		0.652	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		6	27	6	27	---	---	---	---
ZNF449	203523	broad.mit.edu	37	X	134494270	134494270	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chrX:134494270C>A	ENST00000339249.4	+	5	966	c.826C>A	c.(826-828)Ccc>Acc	p.P276T		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	276					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ATGGGAAACCCCCCCAGAGGA	0.438																																						ENST00000339249.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23						c.(826-828)Ccc>Acc		zinc finger protein 449							55.0	58.0	57.0					X																	134494270		2183	4286	6469	SO:0001583	missense	203523				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134494270C>A	AY280801	CCDS14649.1	Xq26.3	2013-01-09			ENSG00000173275	ENSG00000173275		"""-"", ""Zinc fingers, C2H2-type"""	21039	protein-coding gene	gene with protein product		300627					Standard	NM_152695		Approved	ZSCAN19, FLJ23614	uc004eys.3	Q6P9G9	OTTHUMG00000022478	ENST00000339249.4:c.826C>A	X.37:g.134494270C>A	ENSP00000339585:p.Pro276Thr		Somatic					p.P276T	NM_152695.5	NP_689908.3	WXS	Illumina GAIIx	Phase_I	Q6P9G9	ZN449_HUMAN			5	966	+	Acute lymphoblastic leukemia(192;6.56e-05)		276					Q5JRZ7|Q5JRZ8|Q6NZX2|Q8N3Q1|Q8TED7	Missense_Mutation	SNP	ENST00000339249.4	37	c.826C>A	CCDS14649.1	.	.	.	.	.	.	.	.	.	.	C	0.111	-1.139048	0.01742	.	.	ENSG00000173275	ENST00000339249	T	0.06068	3.35	4.85	3.08	0.35506	.	0.337949	0.21786	N	0.069128	T	0.04815	0.0130	N	0.24115	0.695	0.21386	N	0.999704	B	0.15141	0.012	B	0.16289	0.015	T	0.35375	-0.9791	10	0.48119	T	0.1	.	8.4247	0.32723	0.0:0.803:0.0:0.197	.	276	Q6P9G9	ZN449_HUMAN	T	276	ENSP00000339585:P276T	ENSP00000339585:P276T	P	+	1	0	ZNF449	134321936	0.000000	0.05858	0.031000	0.17742	0.095000	0.18619	0.414000	0.21164	0.588000	0.29660	-0.306000	0.09157	CCC		0.438	ZNF449-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058411.1	NM_152695		4	76	4	76	---	---	---	---
CD63	967	broad.mit.edu	37	12	56119956	56119956	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr12:56119956delA	ENST00000549117.1	-	6	952	c.516delT	c.(514-516)aatfs	p.N172fs	CD63_ENST00000257857.4_Frame_Shift_Del_p.N172fs|CD63_ENST00000548160.1_Frame_Shift_Del_p.N79fs|RP11-644F5.11_ENST00000552576.1_RNA|CD63_ENST00000420846.3_Frame_Shift_Del_p.N172fs|CD63_ENST00000552692.1_Frame_Shift_Del_p.N172fs|CD63_ENST00000550776.1_Frame_Shift_Del_p.N90fs|CD63_ENST00000546939.1_Frame_Shift_Del_p.N90fs|CD63_ENST00000552067.1_Frame_Shift_Del_p.N79fs|CD63_ENST00000548898.1_Frame_Shift_Del_p.N79fs|CD63_ENST00000552754.1_Frame_Shift_Del_p.N149fs	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN	CD63 molecule	172					blood coagulation (GO:0007596)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular protein localization (GO:0034613)|endosome to melanosome transport (GO:0035646)|pigment granule maturation (GO:0048757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of receptor internalization (GO:0002092)|protein transport (GO:0015031)|regulation of rubidium ion transport (GO:2000680)|regulation of vascular endothelial growth factor signaling pathway (GO:1900746)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|multivesicular body, internal vesicle (GO:0097487)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						CCACAGTAACATTAATGCAGC	0.498																																					Pancreas(123;1459 1747 6717 18841 37380)	ENST00000549117.1																			0				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						c.(514-516)aatfs		CD63 molecule							100.0	99.0	99.0					12																	56119956		2203	4300	6503	SO:0001589	frameshift_variant	967				platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane		g.chr12:56119956delA	M58485	CCDS8890.1, CCDS58242.1, CCDS58243.1	12q12-q13	2013-02-14	2006-03-28					"""CD molecules"", ""Tetraspanins"""	1692	protein-coding gene	gene with protein product		155740	"""CD63 antigen (melanoma 1 antigen)"""	MLA1			Standard	NM_001780		Approved	ME491, TSPAN30	uc031qhv.1	P08962		ENST00000549117.1:c.516delT	12.37:g.56119956delA	ENSP00000447730:p.Asn172fs		Somatic				CD63_ENST00000552754.1_Frame_Shift_Del_p.N149fs|CD63_ENST00000552692.1_Frame_Shift_Del_p.N172fs|CD63_ENST00000420846.3_Frame_Shift_Del_p.N172fs|CD63_ENST00000548160.1_Frame_Shift_Del_p.N79fs|CD63_ENST00000546939.1_Frame_Shift_Del_p.N90fs|CD63_ENST00000552067.1_Frame_Shift_Del_p.N79fs|CD63_ENST00000548898.1_Frame_Shift_Del_p.N79fs|CD63_ENST00000257857.4_Frame_Shift_Del_p.N172fs|CD63_ENST00000550776.1_Frame_Shift_Del_p.N90fs	p.N172fs	NM_001257389.1	NP_001244318.1	WXS	Illumina GAIIx	Phase_I	P08962	CD63_HUMAN			6	952	-			172					F8VZE2|Q5TZP3|Q8N6Z9|Q9UCG6	Frame_Shift_Del	DEL	ENST00000549117.1	37	c.516delT	CCDS8890.1																																																																																				0.498	CD63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409234.1			13	99	13	99	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72831219	72831223	+	Frame_Shift_Del	DEL	GCAGG	GCAGG	-			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr16:72831219_72831223delGCAGG	ENST00000268489.5	-	9	6030_6034	c.5358_5362delCCTGC	c.(5356-5364)accctgctgfs	p.LL1787fs	ZFHX3_ENST00000397992.5_Frame_Shift_Del_p.LL873fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1787					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TGTAGTTGCAGCAGGGTCTCAGTTG	0.58																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(5356-5364)accctgctgfs		zinc finger homeobox 3																																				SO:0001589	frameshift_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72831219_72831223delGCAGG	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.5358_5362delCCTGC	16.37:g.72831219_72831223delGCAGG	ENSP00000268489:p.Leu1787fs		Somatic				ZFHX3_ENST00000397992.5_Frame_Shift_Del_p.LL873fs	p.LL1787fs	NM_006885.3	NP_008816.3	WXS	Illumina GAIIx	Phase_I	Q15911	ZFHX3_HUMAN			9	6030_6034	-		Ovarian(137;0.13)	1787					D3DWS8|O15101|Q13719	Frame_Shift_Del	DEL	ENST00000268489.5	37	c.5358_5362delCCTGC	CCDS10908.1																																																																																				0.580	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		7	146	7	146	---	---	---	---
TSPAN7	7102	broad.mit.edu	37	X	38525456	38525456	+	Frame_Shift_Del	DEL	T	T	-			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chrX:38525456delT	ENST00000378482.2	+	2	340	c.163delT	c.(163-165)tccfs	p.S55fs	TSPAN7_ENST00000488893.1_3'UTR|TSPAN7_ENST00000545599.1_Frame_Shift_Del_p.S29fs|TSPAN7_ENST00000422612.2_Frame_Shift_Del_p.S81fs|TSPAN7_ENST00000286824.6_Frame_Shift_Del_p.S72fs|TM4SF2_ENST00000465127.1_Frame_Shift_Del_p.S85fs	NM_004615.3	NP_004606.2	P41732	TSN7_HUMAN	tetraspanin 7	55					viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	11						TGCCGAGAACTCCACAAATGC	0.512																																						ENST00000378482.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(163-165)tccfs		tetraspanin 7							227.0	158.0	182.0					X																	38525456		2202	4300	6502	SO:0001589	frameshift_variant	7102				interspecies interaction between organisms	integral to plasma membrane		g.chrX:38525456delT	D29808	CCDS14248.1	Xp11.4	2013-02-14	2005-03-21	2005-03-21	ENSG00000156298	ENSG00000156298		"""CD molecules"", ""Tetraspanins"""	11854	protein-coding gene	gene with protein product		300096	"""transmembrane 4 superfamily member 2"", ""mental retardation, X-linked 58"""	MXS1, TM4SF2, MRX58		12070254	Standard	NM_004615		Approved	DXS1692E, TALLA-1, A15, CD231	uc004deg.4	P41732	OTTHUMG00000024090	ENST00000378482.2:c.163delT	X.37:g.38525456delT	ENSP00000367743:p.Ser55fs		Somatic				TM4SF2_ENST00000465127.1_Frame_Shift_Del_p.S85fs|TSPAN7_ENST00000488893.1_3'UTR|TSPAN7_ENST00000422612.2_Frame_Shift_Del_p.S81fs|TSPAN7_ENST00000545599.1_Frame_Shift_Del_p.S29fs|TSPAN7_ENST00000286824.6_Frame_Shift_Del_p.S72fs	p.S55fs	NM_004615.3	NP_004606.2	WXS	Illumina GAIIx	Phase_I	P41732	TSN7_HUMAN			2	340	+			55					B2R5W7|D3DWB1|Q8WVG5|Q9UEY9	Frame_Shift_Del	DEL	ENST00000378482.2	37	c.163delT	CCDS14248.1																																																																																				0.512	TSPAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356412.1			17	38	17	38	---	---	---	---
