#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MYO9A	4649	broad.mit.edu	37	15	72193592	72193592	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr15:72193592G>T	ENST00000356056.5	-	23	3562	c.3090C>A	c.(3088-3090)ttC>ttA	p.F1030L	MYO9A_ENST00000444904.1_Missense_Mutation_p.F1011L|MYO9A_ENST00000564571.1_Missense_Mutation_p.F1030L|MYO9A_ENST00000424560.1_Missense_Mutation_p.F1030L|MYO9A_ENST00000566885.1_Missense_Mutation_p.F650L|MYO9A_ENST00000563542.1_5'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1030	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.|Neck or regulatory domain.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)	p.F1030L(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GCAAGACCCTGAACCATCGCT	0.453																																						ENST00000356056.5																			1	Substitution - Missense(1)	p.F1030L(1)	prostate(1)	NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(3088-3090)ttC>ttA		myosin IXA							127.0	106.0	113.0					15																	72193592		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72193592G>T	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.3090C>A	15.37:g.72193592G>T	ENSP00000348349:p.Phe1030Leu					MYO9A_ENST00000566885.1_Missense_Mutation_p.F650L|MYO9A_ENST00000564571.1_Missense_Mutation_p.F1030L|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.F1030L|MYO9A_ENST00000444904.1_Missense_Mutation_p.F1011L	p.F1030L	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			23	3562	-			1030			IQ 1.|Neck or regulatory domain.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.3090C>A	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.536032	0.64972	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864	T;T;T	0.71579	-0.58;-0.58;-0.58	6.07	3.14	0.36123	.	.	.	.	.	T	0.64483	0.2602	L	0.58810	1.83	0.47547	D	0.999455	P;B;P	0.40230	0.708;0.033;0.589	B;B;B	0.40534	0.332;0.036;0.145	T	0.62383	-0.6866	9	0.48119	T	0.1	.	7.0965	0.25313	0.1928:0.0:0.6877:0.1195	.	1011;1011;1030	B2RTY4-2;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	L	1030;1030;1011;1011	ENSP00000348349:F1030L;ENSP00000399162:F1030L;ENSP00000398250:F1011L	ENSP00000261864:F1011L	F	-	3	2	MYO9A	69980646	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	3.677000	0.54619	0.877000	0.35895	0.655000	0.94253	TTC		0.453	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		42	75	1	0	4.01765e-15	0.847076	4.7746e-15	42	75				
SUMF1	285362	broad.mit.edu	37	3	4458835	4458835	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr3:4458835C>T	ENST00000272902.5	-	6	852	c.817G>A	c.(817-819)Gat>Aat	p.D273N	SUMF1_ENST00000458465.2_Intron|SUMF1_ENST00000405420.2_Missense_Mutation_p.D273N|SUMF1_ENST00000383843.5_Missense_Mutation_p.D248N|SUMF1_ENST00000534863.1_Missense_Mutation_p.D273N	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1	273					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)	metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		TGGAAGCCATCCTCACCAGTG	0.552																																						ENST00000272902.5																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13						c.(817-819)Gat>Aat		sulfatase modifying factor 1							204.0	180.0	188.0					3																	4458835		2203	4300	6503	SO:0001583	missense	285362					endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity	g.chr3:4458835C>T	BC017005	CCDS2564.1, CCDS54548.1, CCDS54549.1	3p26.1	2009-07-23			ENSG00000144455	ENSG00000144455			20376	protein-coding gene	gene with protein product		607939				12757705, 12757706	Standard	NM_182760		Approved	FGE, UNQ3037	uc003bpz.2	Q8NBK3	OTTHUMG00000090269	ENST00000272902.5:c.817G>A	3.37:g.4458835C>T	ENSP00000272902:p.Asp273Asn					SUMF1_ENST00000405420.2_Missense_Mutation_p.D273N|SUMF1_ENST00000383843.5_Missense_Mutation_p.D248N|SUMF1_ENST00000534863.1_Missense_Mutation_p.D273N|SUMF1_ENST00000458465.2_Intron	p.D273N	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)	6	852	-		Melanoma(143;0.068)|Colorectal(144;0.233)	273					B4DXK5|B7XD05|E9PGL0|G5E9B0|Q0VAC6|Q0VAC7|Q2NL78|Q53ZE4|Q6UY39|Q96AK5|Q96DK8	Missense_Mutation	SNP	ENST00000272902.5	37	c.817G>A	CCDS2564.1	.	.	.	.	.	.	.	.	.	.	C	34	5.394273	0.96009	.	.	ENSG00000144455	ENST00000534982;ENST00000534863;ENST00000272902;ENST00000383843;ENST00000405420	D;D;D;D	0.94828	-3.53;-3.53;-3.53;-3.53	5.81	5.81	0.92471	C-type lectin fold (1);Formylglycine-generating sulphatase enzyme domain (2);	0.000000	0.85682	D	0.000000	D	0.97670	0.9236	M	0.86502	2.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.97994	1.0356	10	0.72032	D	0.01	-14.9871	18.854	0.92244	0.0:1.0:0.0:0.0	.	248;273;273	G5E9B0;E9PGL0;Q8NBK3	.;.;SUMF1_HUMAN	N	273;273;273;248;273	ENSP00000440421:D273N;ENSP00000272902:D273N;ENSP00000373355:D248N;ENSP00000384977:D273N	ENSP00000272902:D273N	D	-	1	0	SUMF1	4433835	1.000000	0.71417	0.955000	0.39395	0.972000	0.66771	6.929000	0.75852	2.746000	0.94184	0.655000	0.94253	GAT		0.552	SUMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206591.2	NM_182760		7	403	0	0	0	0.248553	0	7	403				
MSL2	55167	broad.mit.edu	37	3	135870947	135870947	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr3:135870947T>A	ENST00000309993.2	-	2	1508	c.776A>T	c.(775-777)gAt>gTt	p.D259V	MSL2_ENST00000434835.2_Missense_Mutation_p.D185V	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	259					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.D259V(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						AGGTTTTATATCTTCACTGAA	0.448																																						ENST00000309993.2																			1	Substitution - Missense(1)	p.D259V(1)	prostate(1)	breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(775-777)gAt>gTt		male-specific lethal 2 homolog (Drosophila)							58.0	64.0	62.0					3																	135870947		2203	4300	6503	SO:0001583	missense	55167				histone H4-K16 acetylation	MSL complex	zinc ion binding	g.chr3:135870947T>A	AK001408	CCDS33861.1, CCDS46922.1	3q22.2	2008-10-29	2008-10-29	2008-10-29	ENSG00000174579	ENSG00000174579		"""RING-type (C3HC4) zinc fingers"""	25544	protein-coding gene	gene with protein product	"""male-specific lethal-2 homolog (Drosophila)"""	614802	"""ring finger protein 184"", ""male-specific lethal 2-like 1 (Drosophila)"""	RNF184, MSL2L1		16227571, 16543150	Standard	NM_018133		Approved	FLJ10546, KIAA1585, msl-2	uc003eqx.1	Q9HCI7	OTTHUMG00000159793	ENST00000309993.2:c.776A>T	3.37:g.135870947T>A	ENSP00000311827:p.Asp259Val					MSL2_ENST00000434835.2_Missense_Mutation_p.D185V	p.D259V	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN			2	1508	-			259					B4DYL4|G5E9I1|Q0D2P1|Q8NDB4|Q9NVS4	Missense_Mutation	SNP	ENST00000309993.2	37	c.776A>T	CCDS33861.1	.	.	.	.	.	.	.	.	.	.	T	17.32	3.359968	0.61403	.	.	ENSG00000174579	ENST00000309993;ENST00000434835	.	.	.	6.06	6.06	0.98353	.	0.117336	0.56097	D	0.000036	T	0.65626	0.2709	L	0.32530	0.975	0.80722	D	1	D	0.71674	0.998	D	0.63703	0.917	T	0.67910	-0.5548	9	0.62326	D	0.03	-1.3721	15.7905	0.78357	0.0:0.0:0.0:1.0	.	259	Q9HCI7	MSL2_HUMAN	V	259;185	.	ENSP00000311827:D259V	D	-	2	0	MSL2	137353637	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.704000	0.68347	2.324000	0.78689	0.533000	0.62120	GAT		0.448	MSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357347.1	NM_018133		57	156	0	0	0	0.870114	0	57	156				
DPP8	54878	broad.mit.edu	37	15	65780073	65780073	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr15:65780073T>C	ENST00000341861.5	-	7	2538	c.958A>G	c.(958-960)Atg>Gtg	p.M320V	DPP8_ENST00000300141.6_Missense_Mutation_p.M304V|DPP8_ENST00000321118.7_Missense_Mutation_p.M320V|DPP8_ENST00000339244.5_Missense_Mutation_p.M320V|DPP8_ENST00000559233.1_Missense_Mutation_p.M320V|DPP8_ENST00000321147.6_Missense_Mutation_p.M320V|DPP8_ENST00000358939.4_Missense_Mutation_p.M304V	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	320					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)	p.M304V(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GTTTCCAACATAGGGGATGTA	0.338																																						ENST00000341861.5																			1	Substitution - Missense(1)	p.M304V(1)	prostate(1)	NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(958-960)Atg>Gtg		dipeptidyl-peptidase 8							137.0	132.0	133.0					15																	65780073		2201	4299	6500	SO:0001583	missense	54878				immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr15:65780073T>C	AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"""dipeptidyl peptidase VIII"", ""dipeptidyl peptidase IV-related protein-1"", ""prolyl dipeptidase DPP8"""	606819	"""dipeptidylpeptidase 8"""			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.958A>G	15.37:g.65780073T>C	ENSP00000339208:p.Met320Val					DPP8_ENST00000559233.1_Missense_Mutation_p.M320V|DPP8_ENST00000358939.4_Missense_Mutation_p.M304V|DPP8_ENST00000300141.6_Missense_Mutation_p.M304V|DPP8_ENST00000339244.5_Missense_Mutation_p.M320V|DPP8_ENST00000321118.7_Missense_Mutation_p.M320V|DPP8_ENST00000321147.6_Missense_Mutation_p.M320V	p.M320V	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN			7	2538	-			320					Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Missense_Mutation	SNP	ENST00000341861.5	37	c.958A>G	CCDS10207.1	.	.	.	.	.	.	.	.	.	.	T	11.34	1.608997	0.28623	.	.	ENSG00000074603	ENST00000341861;ENST00000358939;ENST00000300141;ENST00000321147;ENST00000321118;ENST00000339244;ENST00000395652	T;T;T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62;1.62;1.62	5.64	1.92	0.25849	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.117408	0.64402	D	0.000019	T	0.18299	0.0439	N	0.25647	0.755	0.20403	N	0.999904	B;B;B;B;B	0.14438	0.008;0.003;0.003;0.01;0.004	B;B;B;B;B	0.20577	0.012;0.002;0.01;0.03;0.027	T	0.27331	-1.0077	10	0.17832	T	0.49	-19.2679	8.5312	0.33335	0.1177:0.0:0.2747:0.6076	.	320;304;304;320;320	C9JSG1;Q6V1X1-3;Q6V1X1-4;Q6V1X1-2;Q6V1X1	.;.;.;.;DPP8_HUMAN	V	320;304;304;320;320;320;320	ENSP00000339208:M320V;ENSP00000351817:M304V;ENSP00000300141:M304V;ENSP00000318111:M320V;ENSP00000316373:M320V;ENSP00000341230:M320V;ENSP00000379013:M320V	ENSP00000300141:M304V	M	-	1	0	DPP8	63567126	0.992000	0.36948	0.998000	0.56505	0.992000	0.81027	2.278000	0.43426	0.064000	0.16427	0.477000	0.44152	ATG		0.338	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256847.1	NM_017743		20	247	0	0	0	0.575678	0	20	247				
CHD1	1105	broad.mit.edu	37	5	98192174	98192174	+	Silent	SNP	C	C	T			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr5:98192174C>T	ENST00000284049.3	-	35	5192	c.5043G>A	c.(5041-5043)caG>caA	p.Q1681Q		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1681					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)	p.Q1681Q(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	AAGGAGATCTCTGATCTAGTG	0.443																																						ENST00000284049.3																			1	Substitution - coding silent(1)	p.Q1681Q(1)	prostate(1)	NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49						c.(5041-5043)caG>caA		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						95.0	88.0	91.0					5																	98192174		2203	4299	6502	SO:0001819	synonymous_variant	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98192174C>T	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.5043G>A	5.37:g.98192174C>T							p.Q1681Q	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	35	5192	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	1681					Q17RZ3	Silent	SNP	ENST00000284049.3	37	c.5043G>A	CCDS34204.1																																																																																				0.443	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		53	21	0	0	0	0.870114	0	53	21				
CTGF	1490	broad.mit.edu	37	6	132271204	132271204	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr6:132271204C>A	ENST00000367976.3	-	4	838	c.638G>T	c.(637-639)tGt>tTt	p.C213F	RP11-69I8.3_ENST00000435287.1_RNA	NM_001901.2	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor	213	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|chondrocyte proliferation (GO:0035988)|cytosolic calcium ion transport (GO:0060401)|DNA replication (GO:0006260)|epidermis development (GO:0008544)|extracellular matrix constituent secretion (GO:0070278)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|organ senescence (GO:0010260)|ossification (GO:0001503)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of cell activation (GO:0050867)|positive regulation of cell death (GO:0010942)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G0 to G1 transition (GO:0070318)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of chondrocyte differentiation (GO:0032330)|response to amino acid (GO:0043200)|response to anoxia (GO:0034059)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to mineralocorticoid (GO:0051385)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell cortex (GO:0005938)|cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|insulin-like growth factor binding (GO:0005520)	p.C213F(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		GCCCATCCCACAGGTCTTGGA	0.587											OREG0017666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(127;510 1660 12817 24400 38449)	ENST00000367976.3																			1	Substitution - Missense(1)	p.C213F(1)	prostate(1)	breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13						c.(637-639)tGt>tTt		connective tissue growth factor							76.0	69.0	71.0					6																	132271204		2203	4300	6503	SO:0001583	missense	1490				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding	g.chr6:132271204C>A	X78947	CCDS5151.1	6q23.2	2008-02-05			ENSG00000118523	ENSG00000118523			2500	protein-coding gene	gene with protein product		121009				1654338	Standard	NM_001901		Approved	IGFBP8, CCN2	uc003qcz.3	P29279	OTTHUMG00000015573	ENST00000367976.3:c.638G>T	6.37:g.132271204C>A	ENSP00000356954:p.Cys213Phe		OREG0017666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1594		p.C213F	NM_001901.2	NP_001892.1	P29279	CTGF_HUMAN		GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)	4	838	-	Breast(56;0.0602)		213			TSP type-1.		E1P578|Q6LCY0|Q96A79|Q96QX2|Q9UDL6	Missense_Mutation	SNP	ENST00000367976.3	37	c.638G>T	CCDS5151.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.258222	0.80246	.	.	ENSG00000118523	ENST00000367976	D	0.96491	-4.03	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.99083	0.9685	H	0.98370	4.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99211	1.0876	10	0.87932	D	0	.	19.4542	0.94880	0.0:1.0:0.0:0.0	.	213	P29279	CTGF_HUMAN	F	213	ENSP00000356954:C213F	ENSP00000356954:C213F	C	-	2	0	CTGF	132312897	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.818000	0.86416	2.671000	0.90904	0.555000	0.69702	TGT		0.587	CTGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042239.2	NM_001901		4	77	1	0	0.00909568	0.150653	0.00956213	4	77				
ZKSCAN1	7586	broad.mit.edu	37	7	99631796	99631796	+	Silent	SNP	C	C	T	rs147984747	byFrequency	TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr7:99631796C>T	ENST00000324306.6	+	6	1902	c.1668C>T	c.(1666-1668)ggC>ggT	p.G556G	ZKSCAN1_ENST00000535170.1_Silent_p.G343G|ZKSCAN1_ENST00000426572.1_Silent_p.G520G	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	556					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			ATGCATTTGGCGCGTTCCTGA	0.498																																						ENST00000324306.6																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1666-1668)ggC>ggT		zinc finger with KRAB and SCAN domains 1		C		2,4404	4.2+/-10.8	0,2,2201	97.0	91.0	93.0		1668	-7.7	0.9	7	dbSNP_134	93	0,8600		0,0,4300	no	coding-synonymous	ZKSCAN1	NM_003439.1		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		556/564	99631796	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7586				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99631796C>T	X52349	CCDS34698.1, CCDS69349.1, CCDS75640.1	7q22	2013-01-09	2004-11-16	2004-11-17	ENSG00000106261	ENSG00000106261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13101	protein-coding gene	gene with protein product		601260	"""zinc finger protein 36 (KOX 18)"""	ZNF139, ZNF36			Standard	NM_001287055		Approved	KOX18, PHZ-37, ZSCAN33	uc003usk.1	P17029	OTTHUMG00000156534	ENST00000324306.6:c.1668C>T	7.37:g.99631796C>T						ZKSCAN1_ENST00000426572.1_Silent_p.G520G|ZKSCAN1_ENST00000535170.1_Silent_p.G343G	p.G556G	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		6	1902	+	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		556					A4D294|P52745|Q2M1U1|Q8TBW5|Q8TEK7	Silent	SNP	ENST00000324306.6	37	c.1668C>T	CCDS34698.1																																																																																				0.498	ZKSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344550.2	NM_003439		5	349	0	0	0	0.217242	0	5	349				
COL11A1	1301	broad.mit.edu	37	1	103544235	103544235	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr1:103544235G>A	ENST00000370096.3	-	3	779	c.467C>T	c.(466-468)aCt>aTt	p.T156I	COL11A1_ENST00000353414.4_Missense_Mutation_p.T156I|COL11A1_ENST00000512756.1_Missense_Mutation_p.T156I|COL11A1_ENST00000358392.2_Missense_Mutation_p.T156I	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	156	Laminin G-like.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.T156I(2)|p.T156S(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GATGTTAACAGTTCTGAAGAG	0.368																																						ENST00000358392.2																			3	Substitution - Missense(3)	p.T156I(2)|p.T156S(1)	prostate(2)|large_intestine(1)	NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(466-468)aCt>aTt		collagen, type XI, alpha 1							81.0	86.0	84.0					1																	103544235		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103544235G>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.467C>T	1.37:g.103544235G>A	ENSP00000359114:p.Thr156Ile					COL11A1_ENST00000370096.3_Missense_Mutation_p.T156I|COL11A1_ENST00000512756.1_Missense_Mutation_p.T156I|COL11A1_ENST00000353414.4_Missense_Mutation_p.T156I	p.T156I	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	3	784	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	156			TSP N-terminal.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.467C>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453433	0.63290	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239;ENST00000447608	T;T;T;T;T;T	0.02280	4.36;4.36;4.36;4.36;4.36;4.36	5.52	5.52	0.82312	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.181585	0.49305	D	0.000160	T	0.02267	0.0070	L	0.51422	1.61	0.47094	D	0.999312	B;B;P;P	0.41848	0.322;0.403;0.763;0.684	B;B;B;B	0.40329	0.247;0.159;0.219;0.326	T	0.55982	-0.8054	10	0.66056	D	0.02	.	19.4381	0.94806	0.0:0.0:1.0:0.0	.	156;156;156;156	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	I	156;156;156;156;156;83	ENSP00000359114:T156I;ENSP00000351163:T156I;ENSP00000302551:T156I;ENSP00000426533:T156I;ENSP00000408640:T156I;ENSP00000410177:T83I	ENSP00000302551:T156I	T	-	2	0	COL11A1	103316823	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	3.812000	0.55628	2.602000	0.87976	0.650000	0.86243	ACT		0.368	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		68	88	0	0	0	0.870114	0	68	88				
POU5F1B	5462	broad.mit.edu	37	8	128428780	128428780	+	Silent	SNP	A	A	C			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr8:128428780A>C	ENST00000465342.2	+	2	1826	c.669A>C	c.(667-669)gcA>gcC	p.A223A	CASC8_ENST00000501396.1_RNA|CASC8_ENST00000523825.1_RNA|POU5F1B_ENST00000391675.1_Silent_p.A223A|CASC8_ENST00000502082.1_RNA			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	223					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A223A(2)		lung(1)|prostate(1)|urinary_tract(1)	3						TATGCAAAGCAGAAACCCTCA	0.507																																						ENST00000465342.2																			2	Substitution - coding silent(2)	p.A223A(2)	prostate(2)	lung(1)|prostate(1)|urinary_tract(1)	3						c.(667-669)gcA>gcC		POU class 5 homeobox 1B							15.0	15.0	15.0					8																	128428780		692	1591	2283	SO:0001819	synonymous_variant	5462					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr8:128428780A>C	AF268615	CCDS55274.1	8q24.21	2011-06-20	2009-04-15	2009-04-15	ENSG00000212993	ENSG00000212993		"""Homeoboxes / POU class"""	9223	protein-coding gene	gene with protein product		615739	"""POU domain class 5, transcription factor 1 pseudogene 1"", ""POU class 5 homeobox 1 pseudogene 1"""	OTF3P1, POU5F1P1		1408763	Standard	NM_001159542		Approved	OTF3C	uc003ysf.3	Q06416	OTTHUMG00000157807	ENST00000465342.2:c.669A>C	8.37:g.128428780A>C						CASC8_ENST00000523825.1_RNA|CASC8_ENST00000502082.1_RNA|POU5F1B_ENST00000391675.1_Silent_p.A223A|CASC8_ENST00000501396.1_RNA	p.A223A			Q06416	P5F1B_HUMAN			2	1826	+			223					D5K9S4|D5K9S9|D5K9T0|D5K9T1|D5K9T3|D5K9U3|D5K9U6|D5K9V4|D5K9V6|D5K9W0|D5K9W2|D5K9W7|D5K9X2|D5K9X3|D5K9X5|D5K9X8|D5K9X9|E9LRB1|E9LRB2|E9LRH5|E9LRH6|E9LRH7|E9LRK4|E9LRK5|E9LRK7|E9LRK8|E9LRM7|E9LRM9|E9LRN2|E9LRN4|E9LRN5|E9LRP8|E9LRQ0|E9LRQ2|E9LRQ3|E9LRQ4|E9LRQ5|E9LRS3|Q2VIK6|Q9BZV7|Q9BZV9	Silent	SNP	ENST00000465342.2	37	c.669A>C	CCDS55274.1																																																																																				0.507	POU5F1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349649.2	NM_001159542		17	18	0	0	0	0.500413	0	17	18				
HSPG2	3339	broad.mit.edu	37	1	22178148	22178148	+	Missense_Mutation	SNP	G	G	A	rs563318176		TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr1:22178148G>A	ENST00000374695.3	-	55	7128	c.7049C>T	c.(7048-7050)tCg>tTg	p.S2350L	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2350	Ig-like C2-type 9.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.S2350L(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CGCCACTTGCGAGGAGGAGGG	0.652													g|||	1	0.000199681	0.0	0.0	5008	,	,		18537	0.001		0.0	False		,,,				2504	0.0					ENST00000374695.3																			1	Substitution - Missense(1)	p.S2350L(1)	prostate(1)	breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(7048-7050)tCg>tTg		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						81.0	85.0	84.0					1																	22178148		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22178148G>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.7049C>T	1.37:g.22178148G>A	ENSP00000363827:p.Ser2350Leu					HSPG2_ENST00000430507.1_3'UTR	p.S2350L	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	55	7128	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	2350			Ig-like C2-type 9.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.7049C>T	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.900661	0.52227	.	.	ENSG00000142798	ENST00000374695	T	0.64260	-0.09	5.52	5.52	0.82312	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.36591	N	0.002516	T	0.62636	0.2444	N	0.25201	0.72	0.32110	N	0.589413	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.58323	-0.7656	10	0.09338	T	0.73	.	11.9574	0.52988	0.0:0.0:0.8266:0.1734	.	290;2350	Q59EG0;P98160	.;PGBM_HUMAN	L	2350	ENSP00000363827:S2350L	ENSP00000363827:S2350L	S	-	2	0	HSPG2	22050735	1.000000	0.71417	0.792000	0.32020	0.007000	0.05969	5.645000	0.67909	2.598000	0.87819	0.462000	0.41574	TCG		0.652	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		4	111	0	0	0	0.248553	0	4	111				
SLC9A5	6553	broad.mit.edu	37	16	67305047	67305047	+	Silent	SNP	C	C	T			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr16:67305047C>T	ENST00000299798.11	+	16	2690	c.2625C>T	c.(2623-2625)acC>acT	p.T875T		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	875					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.T875T(1)		breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		AGGACCACACCCATCTCAGCC	0.662																																						ENST00000299798.11																			1	Substitution - coding silent(1)	p.T875T(1)	prostate(1)	breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(2623-2625)acC>acT		solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5							23.0	25.0	24.0					16																	67305047		2097	4212	6309	SO:0001819	synonymous_variant	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67305047C>T		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.2625C>T	16.37:g.67305047C>T							p.T875T	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	16	2690	+		Ovarian(137;0.0563)	875					A5PKY7|Q9Y626	Silent	SNP	ENST00000299798.11	37	c.2625C>T	CCDS42178.1	.	.	.	.	.	.	.	.	.	.	C	6.470	0.454973	0.12283	.	.	ENSG00000135740	ENST00000360183	.	.	.	4.76	-9.52	0.00578	.	.	.	.	.	T	0.35278	0.0926	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.53493	-0.8431	5	0.87932	D	0	.	7.7909	0.29119	0.0:0.2445:0.2953:0.4602	.	.	.	.	L	387	.	ENSP00000353311:P387L	P	+	2	0	SLC9A5	65862548	0.000000	0.05858	0.018000	0.16275	0.986000	0.74619	-2.138000	0.01303	-1.855000	0.01162	0.549000	0.68633	CCC		0.662	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			4	31	0	0	0	0.150653	0	4	31				
LGR6	59352	broad.mit.edu	37	1	202245638	202245638	+	Silent	SNP	C	C	T			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr1:202245638C>T	ENST00000367278.3	+	5	722	c.633C>T	c.(631-633)agC>agT	p.S211S	LGR6_ENST00000255432.7_Silent_p.S159S|LGR6_ENST00000439764.2_Intron|LGR6_ENST00000308543.3_3'UTR	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	211					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)	p.S211S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						ATCTCACCAGCCTTGTGGTGC	0.617																																						ENST00000367278.3																			1	Substitution - coding silent(1)	p.S211S(1)	prostate(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						c.(631-633)agC>agT		leucine-rich repeat containing G protein-coupled receptor 6							57.0	46.0	50.0					1																	202245638		2203	4300	6503	SO:0001819	synonymous_variant	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202245638C>T	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.633C>T	1.37:g.202245638C>T						LGR6_ENST00000255432.7_Silent_p.S159S|LGR6_ENST00000439764.2_Intron|LGR6_ENST00000308543.3_3'UTR	p.S211S	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN			5	722	+			211					Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Silent	SNP	ENST00000367278.3	37	c.633C>T	CCDS30971.1																																																																																				0.617	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		12	19	0	0	0	0.500413	0	12	19				
LRRTM4	80059	broad.mit.edu	37	2	77746838	77746838	+	Missense_Mutation	SNP	C	C	T	rs141419994		TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr2:77746838C>T	ENST00000409093.1	-	3	493	c.157G>A	c.(157-159)Gca>Aca	p.A53T	LRRTM4_ENST00000409088.3_Missense_Mutation_p.A53T|LRRTM4_ENST00000409884.1_Missense_Mutation_p.A53T|LRRTM4_ENST00000409282.1_Missense_Mutation_p.A54T|LRRTM4_ENST00000409911.1_Missense_Mutation_p.A54T			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	53	LRRNT.				alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GGGATATCTGCGAAAGCATGA	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		18599	0.001		0.0	False		,,,				2504	0.0					ENST00000409088.3																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64						c.(157-159)Gca>Aca		leucine rich repeat transmembrane neuronal 4							116.0	111.0	113.0					2																	77746838		1971	4155	6126	SO:0001583	missense	80059					integral to membrane		g.chr2:77746838C>T	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.157G>A	2.37:g.77746838C>T	ENSP00000386357:p.Ala53Thr					LRRTM4_ENST00000409884.1_Missense_Mutation_p.A53T|LRRTM4_ENST00000409282.1_Missense_Mutation_p.A54T|LRRTM4_ENST00000409911.1_Missense_Mutation_p.A54T|LRRTM4_ENST00000409093.1_Missense_Mutation_p.A53T	p.A53T	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	571	-			53			LRRNT.		Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	c.157G>A	CCDS46346.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	6.276	0.419030	0.11870	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.03801	3.8;3.8;3.8;3.8;3.8	5.72	1.86	0.25419	Leucine-rich repeat-containing N-terminal (1);	0.202722	0.43747	N	0.000521	T	0.02047	0.0064	N	0.10782	0.045	0.24412	N	0.994658	B;B;B	0.31625	0.103;0.165;0.332	B;B;B	0.28709	0.043;0.093;0.068	T	0.46693	-0.9173	10	0.02654	T	1	.	8.5601	0.33505	0.0:0.5149:0.0:0.4851	.	54;53;53	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	T	54;53;53;53;54	ENSP00000387228:A54T;ENSP00000387297:A53T;ENSP00000386357:A53T;ENSP00000386236:A53T;ENSP00000386286:A54T	ENSP00000386236:A53T	A	-	1	0	LRRTM4	77600346	1.000000	0.71417	0.927000	0.36925	0.994000	0.84299	1.359000	0.34113	0.062000	0.16340	-0.136000	0.14681	GCA		0.463	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		4	177	0	0	0	0.184627	0	4	177				
POPDC2	64091	broad.mit.edu	37	3	119379078	119379078	+	Missense_Mutation	SNP	C	C	G	rs200871576		TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr3:119379078C>G	ENST00000264231.3	-	1	359	c.193G>C	c.(193-195)Gtg>Ctg	p.V65L	POPDC2_ENST00000474523.1_Intron|POPDC2_ENST00000493094.1_Missense_Mutation_p.V65L|POPDC2_ENST00000538678.1_Missense_Mutation_p.V65L|POPDC2_ENST00000468801.1_Missense_Mutation_p.V65L	NM_022135.2	NP_071418.2	Q9HBU9	POPD2_HUMAN	popeye domain containing 2	65					regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sinoatrial node cell development (GO:0060931)	integral component of membrane (GO:0016021)	cAMP binding (GO:0030552)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		CCCCACAGCACGCAGCACAGG	0.577																																						ENST00000493094.1																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(193-195)Gtg>Ctg		popeye domain containing 2							125.0	108.0	114.0					3																	119379078		2203	4300	6503	SO:0001583	missense	64091					integral to membrane		g.chr3:119379078C>G	AF204173	CCDS2992.1	3q13.33	2004-01-15			ENSG00000121577	ENSG00000121577			17648	protein-coding gene	gene with protein product		605823				10882522	Standard	NM_022135		Approved	POP2	uc031sbc.1	Q9HBU9	OTTHUMG00000159438	ENST00000264231.3:c.193G>C	3.37:g.119379078C>G	ENSP00000264231:p.Val65Leu					POPDC2_ENST00000468801.1_Missense_Mutation_p.V65L|POPDC2_ENST00000474523.1_Intron|POPDC2_ENST00000538678.1_Missense_Mutation_p.V65L|POPDC2_ENST00000264231.3_Missense_Mutation_p.V65L	p.V65L			Q9HBU9	POPD2_HUMAN		GBM - Glioblastoma multiforme(114;0.242)	1	652	-			65					Q86UE7	Missense_Mutation	SNP	ENST00000264231.3	37	c.193G>C	CCDS2992.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.936434	0.52972	.	.	ENSG00000121577	ENST00000264231;ENST00000493094;ENST00000468801;ENST00000538678	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.79	3.98	0.46160	.	0.218269	0.46145	N	0.000304	T	0.39172	0.1068	L	0.57536	1.79	0.80722	D	1	B;B	0.21309	0.054;0.032	B;B	0.17722	0.019;0.008	T	0.14839	-1.0458	10	0.30854	T	0.27	.	13.0698	0.59055	0.1289:0.7475:0.1236:0.0	.	65;65	Q9HBU9-2;Q9HBU9	.;POPD2_HUMAN	L	65	ENSP00000264231:V65L;ENSP00000417250:V65L;ENSP00000420715:V65L;ENSP00000438271:V65L	ENSP00000264231:V65L	V	-	1	0	POPDC2	120861768	0.814000	0.29104	0.885000	0.34714	0.996000	0.88848	1.659000	0.37387	0.766000	0.33244	0.655000	0.94253	GTG		0.577	POPDC2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355378.1	NM_022135		3	127	0	0	0	0.115264	0	3	127				
NTRK1	4914	broad.mit.edu	37	1	156830913	156830913	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr1:156830913C>T	ENST00000524377.1	+	1	228	c.187C>T	c.(187-189)Ccc>Tcc	p.P63S	NTRK1_ENST00000392302.2_Intron|INSRR_ENST00000368195.3_5'Flank|NTRK1_ENST00000358660.3_Missense_Mutation_p.P63S|NTRK1_ENST00000368196.3_Missense_Mutation_p.P63S	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	63					activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P63S(2)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	CCACCACCTGCCCGGCGCAGA	0.736			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																												ENST00000368196.3				Dom	yes		1	1q21-q22	4914	T	"""neurotrophic tyrosine kinase, receptor, type 1"""			E	"""TPM3, TPR, TFG"""		papillary thyroid		2	Substitution - Missense(2)	p.P63S(2)	prostate(2)	breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(187-189)Ccc>Tcc		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)						7.0	8.0	8.0					1																	156830913		2142	4203	6345	SO:0001583	missense	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156830913C>T	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.187C>T	1.37:g.156830913C>T	ENSP00000431418:p.Pro63Ser	TSP Lung(10;0.080)				NTRK1_ENST00000392302.2_Intron|NTRK1_ENST00000358660.3_Missense_Mutation_p.P63S|NTRK1_ENST00000524377.1_Missense_Mutation_p.P63S	p.P63S	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN			1	307	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		63					B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	ENST00000524377.1	37	c.187C>T	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.522833	0.44866	.	.	ENSG00000198400	ENST00000368196;ENST00000524377;ENST00000358660	D;D;D	0.89270	-2.49;-2.49;-2.49	4.81	3.84	0.44239	.	0.460721	0.18351	N	0.143866	T	0.73505	0.3595	.	.	.	0.21627	N	0.999615	B;B;B	0.22480	0.003;0.015;0.07	B;B;B	0.12837	0.0;0.004;0.008	T	0.67090	-0.5758	9	0.49607	T	0.09	.	10.9439	0.47289	0.1862:0.8138:0.0:0.0	.	63;63;63	A8K3Z4;P04629-2;P04629	.;.;NTRK1_HUMAN	S	63	ENSP00000357179:P63S;ENSP00000431418:P63S;ENSP00000351486:P63S	ENSP00000351486:P63S	P	+	1	0	NTRK1	155097537	0.588000	0.26799	0.903000	0.35520	0.962000	0.63368	0.896000	0.28377	2.373000	0.80994	0.655000	0.94253	CCC		0.736	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		5	7	0	0	0	0.217242	0	5	7				
CDK13	8621	broad.mit.edu	37	7	40039015	40039015	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr7:40039015C>G	ENST00000181839.4	+	4	2703	c.2098C>G	c.(2098-2100)Cgc>Ggc	p.R700G	CDK13_ENST00000340829.5_Missense_Mutation_p.R700G|CDK13_ENST00000484589.1_3'UTR	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	700			R -> L (in dbSNP:rs1057000). {ECO:0000269|PubMed:11162436, ECO:0000269|PubMed:1731328}.		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)	p.R700G(1)|p.L700V(1)		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						CTGGGGAAAACGCTGCGTGGA	0.358																																						ENST00000181839.4																			2	Substitution - Missense(2)	p.R700G(1)|p.L700V(1)	prostate(2)	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.(2098-2100)Cgc>Ggc		cyclin-dependent kinase 13							105.0	110.0	108.0					7																	40039015		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.chr7:40039015C>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.2098C>G	7.37:g.40039015C>G	ENSP00000181839:p.Arg700Gly					CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Missense_Mutation_p.R700G	p.R700G	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN			4	2703	+			700		R -> L (in dbSNP:rs1057000).			Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	ENST00000181839.4	37	c.2098C>G	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563962	0.86335	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.43294	0.95;0.95	5.43	5.43	0.79202	Protein kinase-like domain (1);	.	.	.	.	T	0.64702	0.2622	M	0.67397	2.05	0.80722	D	1	P;D;D	0.89917	0.956;1.0;0.996	B;D;D	0.87578	0.357;0.998;0.934	T	0.62849	-0.6767	8	.	.	.	-6.8082	19.2537	0.93935	0.0:1.0:0.0:0.0	.	86;700;700	Q9BVE2;Q14004-2;Q14004	.;.;CDK13_HUMAN	G	700	ENSP00000181839:R700G;ENSP00000340557:R700G	.	R	+	1	0	CDK13	40005540	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.779000	0.62375	2.552000	0.86080	0.643000	0.83706	CGC		0.358	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		68	174	0	0	0	0.870114	0	68	174				
POLN	353497	broad.mit.edu	37	4	2097644	2097644	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr4:2097644C>G	ENST00000511885.2	-	20	2352	c.1999G>C	c.(1999-2001)Gaa>Caa	p.E667Q	POLN_ENST00000382865.1_Missense_Mutation_p.E667Q			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	667					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			GTCACCTGTTCCACGGGCACA	0.602								DNA polymerases (catalytic subunits)																														ENST00000511885.2																			0				kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28						c.(1999-2001)Gaa>Caa	DNA polymerases (catalytic subunits)	polymerase (DNA directed) nu							241.0	180.0	201.0					4																	2097644		2203	4300	6503	SO:0001583	missense	353497				DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity	g.chr4:2097644C>G	AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"""DNA polymerases"""	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.1999G>C	4.37:g.2097644C>G	ENSP00000435506:p.Glu667Gln					POLN_ENST00000382865.1_Missense_Mutation_p.E667Q	p.E667Q			Q7Z5Q5	DPOLN_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0955)		20	2352	-			667					A2A336|B4E158|Q4TTW4|Q6ZNF4	Missense_Mutation	SNP	ENST00000511885.2	37	c.1999G>C	CCDS3360.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.15|13.15	2.150143|2.150143	0.37923|0.37923	.|.	.|.	ENSG00000130997|ENSG00000130997	ENST00000511885;ENST00000382865;ENST00000253313;ENST00000382857|ENST00000511098	T;T|.	0.27720|.	1.65;1.65|.	3.68|3.68	2.83|2.83	0.33086|0.33086	DNA-directed DNA polymerase, family A, palm domain (2);|.	0.421139|.	0.23791|.	N|.	0.044521|.	T|T	0.59595|0.59595	0.2205|0.2205	M|M	0.85777|0.85777	2.775|2.775	0.09310|0.09310	N|N	1|1	D;D;P|.	0.76494|.	0.998;0.999;0.88|.	D;D;P|.	0.70935|.	0.971;0.96;0.688|.	T|T	0.52675|0.52675	-0.8544|-0.8544	10|5	0.87932|.	D|.	0|.	-6.0125|-6.0125	6.7786|6.7786	0.23634|0.23634	0.0:0.873:0.0:0.127|0.0:0.873:0.0:0.127	.|.	198;358;667|.	C9JDP8;E9PE06;Q7Z5Q5|.	.;.;DPOLN_HUMAN|.	Q|C	667;667;358;198|299	ENSP00000435506:E667Q;ENSP00000372316:E667Q|.	ENSP00000253313:E358Q|.	E|W	-|-	1|3	0|0	POLN|POLN	2067442|2067442	0.045000|0.045000	0.20229|0.20229	0.006000|0.006000	0.13384|0.13384	0.006000|0.006000	0.05464|0.05464	1.414000|1.414000	0.34736|0.34736	1.120000|1.120000	0.41904|0.41904	0.563000|0.563000	0.77884|0.77884	GAA|TGG		0.602	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2	NM_181808		3	119	0	0	0	0.115264	0	3	119				
DDX19B	11269	broad.mit.edu	37	16	70359583	70359583	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr16:70359583G>A	ENST00000288071.6	+	7	844	c.599G>A	c.(598-600)gGc>gAc	p.G200D	DDX19B_ENST00000563392.1_Missense_Mutation_p.G91D|RP11-529K1.3_ENST00000567706.1_Missense_Mutation_p.G200D|DDX19B_ENST00000568625.1_Missense_Mutation_p.G91D|DDX19B_ENST00000451014.3_Missense_Mutation_p.G174D|RP11-529K1.2_ENST00000562077.1_RNA|DDX19B_ENST00000563206.1_Missense_Mutation_p.G205D|DDX19B_ENST00000355992.3_Missense_Mutation_p.G169D|DDX19B_ENST00000393657.2_Missense_Mutation_p.G91D	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B	200	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|N-terminal lobe.				mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				GCTGTTCGAGGCAATAAATGT	0.363																																					Esophageal Squamous(26;382 757 1343 9728 15939)	ENST00000288071.6																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9						c.(598-600)gGc>gAc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B							170.0	162.0	165.0					16																	70359583		2198	4300	6498	SO:0001583	missense	11269				mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr16:70359583G>A	AJ237946	CCDS10888.1, CCDS32475.1, CCDS42187.1, CCDS58478.1	16q22.3	2012-02-23	2012-02-23	2005-07-13	ENSG00000157349	ENSG00000157349		"""DEAD-boxes"""	2742	protein-coding gene	gene with protein product		605812	"""DEAD (Asp-Glu-Ala-As) box polypeptide 19"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 19 (Dbp5, yeast, homolog)"""	DDX19		10428971	Standard	NM_007242		Approved	DBP5	uc002eyo.4	Q9UMR2	OTTHUMG00000137577	ENST00000288071.6:c.599G>A	16.37:g.70359583G>A	ENSP00000288071:p.Gly200Asp					DDX19B_ENST00000563392.1_Missense_Mutation_p.G91D|DDX19B_ENST00000563206.1_Missense_Mutation_p.G205D|DDX19B_ENST00000393657.2_Missense_Mutation_p.G91D|DDX19B_ENST00000355992.3_Missense_Mutation_p.G169D|DDX19B_ENST00000568625.1_Missense_Mutation_p.G91D|RP11-529K1.2_ENST00000562077.1_RNA|RP11-529K1.3_ENST00000567706.1_Missense_Mutation_p.G200D|DDX19B_ENST00000451014.3_Missense_Mutation_p.G174D	p.G200D	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN			7	844	+		Ovarian(137;0.0694)	200			Helicase ATP-binding.		B3KNE9|B4DXS6|E7EMK4|Q6FIB7|Q6IAE0|Q96KE7|Q9H0U0	Missense_Mutation	SNP	ENST00000288071.6	37	c.599G>A	CCDS10888.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.837394	0.91117	.	.	ENSG00000157349	ENST00000451014;ENST00000355992;ENST00000393657;ENST00000288071	T;T;T;T	0.16897	2.31;2.31;2.31;2.31	5.49	5.49	0.81192	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.50769	0.1635	M	0.90019	3.08	0.80722	D	1	P;D;D	0.89917	0.476;1.0;1.0	P;D;D	0.97110	0.534;1.0;0.999	T	0.57106	-0.7868	10	0.62326	D	0.03	-8.4165	16.9239	0.86170	0.0:0.0:1.0:0.0	.	174;169;200	E7EMK4;Q9UMR2-2;Q9UMR2	.;.;DD19B_HUMAN	D	174;169;91;200	ENSP00000392639:G174D;ENSP00000348271:G169D;ENSP00000377267:G91D;ENSP00000288071:G200D	ENSP00000288071:G200D	G	+	2	0	DDX19B	68917084	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.307000	0.78920	2.865000	0.98341	0.655000	0.94253	GGC		0.363	DDX19B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268965.3	NM_007242		4	182	0	0	0	0.150653	0	4	182				
FCGBP	8857	broad.mit.edu	37	19	40420067	40420067	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr19:40420067C>T	ENST00000221347.6	-	6	2934	c.2927G>A	c.(2926-2928)gGc>gAc	p.G976D		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	976	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)		p.G976D(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GACAGTCAGGCCAAAGTCCGT	0.592																																						ENST00000221347.6																			1	Substitution - Missense(1)	p.G976D(1)	prostate(1)	NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(2926-2928)gGc>gAc		Fc fragment of IgG binding protein							66.0	61.0	63.0					19																	40420067		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40420067C>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.2927G>A	19.37:g.40420067C>T	ENSP00000221347:p.Gly976Asp						p.G976D	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		6	2934	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		976			VWFD 2.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.2927G>A	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.173205	0.38413	.	.	ENSG00000090920	ENST00000221347	T	0.61040	0.14	4.84	3.81	0.43845	von Willebrand factor, type D domain (3);	0.075483	0.50627	N	0.000103	T	0.74921	0.3780	M	0.79805	2.47	0.45403	D	0.998382	D	0.89917	1.0	D	0.91635	0.999	T	0.77245	-0.2659	10	0.52906	T	0.07	.	12.2964	0.54849	0.0:0.9163:0.0:0.0837	.	976	Q9Y6R7	FCGBP_HUMAN	D	976	ENSP00000221347:G976D	ENSP00000221347:G976D	G	-	2	0	FCGBP	45111907	1.000000	0.71417	1.000000	0.80357	0.007000	0.05969	7.514000	0.81750	1.277000	0.44412	-0.291000	0.09656	GGC		0.592	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		37	60	0	0	0	0.819951	0	37	60				
MFSD8	256471	broad.mit.edu	37	4	128843022	128843022	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr4:128843022C>G	ENST00000296468.3	-	11	1222	c.1095G>C	c.(1093-1095)caG>caC	p.Q365H	MFSD8_ENST00000515130.1_Intron|MFSD8_ENST00000513559.1_Missense_Mutation_p.Q320H	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	365					cell death (GO:0008219)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)		p.Q365H(1)		cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						TACCTTCCCACTGTATTTTGG	0.373																																						ENST00000296468.3																			1	Substitution - Missense(1)	p.Q365H(1)	prostate(1)	cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						c.(1093-1095)caG>caC		major facilitator superfamily domain containing 8							67.0	69.0	69.0					4																	128843022		2203	4300	6503	SO:0001583	missense	256471				cell death|transmembrane transport	integral to membrane|lysosomal membrane		g.chr4:128843022C>G	AK074564	CCDS3736.1	4q28.2	2014-09-17			ENSG00000164073	ENSG00000164073			28486	protein-coding gene	gene with protein product		611124	"""ceroid-lipofuscinosis, neuronal 7, late infantile, variant"""	CLN7		17564970	Standard	NM_152778		Approved	MGC33302	uc003ifp.3	Q8NHS3	OTTHUMG00000133303	ENST00000296468.3:c.1095G>C	4.37:g.128843022C>G	ENSP00000296468:p.Gln365His					MFSD8_ENST00000513559.1_Missense_Mutation_p.Q320H|MFSD8_ENST00000515130.1_Intron	p.Q365H	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN			11	1222	-			365					B2RDM1|B7Z205|Q8N2P3	Missense_Mutation	SNP	ENST00000296468.3	37	c.1095G>C	CCDS3736.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.860919	0.51482	.	.	ENSG00000164073	ENST00000296468;ENST00000513559	D;D	0.85629	-2.01;-1.91	5.17	2.36	0.29203	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.059551	0.64402	D	0.000002	D	0.89132	0.6628	M	0.68952	2.095	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.86512	0.1810	10	0.37606	T	0.19	-6.1231	9.6577	0.39936	0.0:0.7025:0.0:0.2975	.	365	Q8NHS3	MFSD8_HUMAN	H	365;320	ENSP00000296468:Q365H;ENSP00000425000:Q320H	ENSP00000296468:Q365H	Q	-	3	2	MFSD8	129062472	0.993000	0.37304	1.000000	0.80357	0.985000	0.73830	0.318000	0.19504	0.715000	0.32103	-0.258000	0.10820	CAG		0.373	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257097.1	NM_152778		30	60	0	0	0	0.740014	0	30	60				
ZFP28	140612	broad.mit.edu	37	19	57065114	57065114	+	Silent	SNP	G	G	A			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr19:57065114G>A	ENST00000301318.3	+	8	1031	c.960G>A	c.(958-960)ggG>ggA	p.G320G	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	320					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G320G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		ATGCTGAAGGGGTAACAGACA	0.403																																					Ovarian(124;554 1662 19430 21141 52494)	ENST00000301318.3																			1	Substitution - coding silent(1)	p.G320G(1)	prostate(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35						c.(958-960)ggG>ggA		ZFP28 zinc finger protein							77.0	70.0	72.0					19																	57065114		2203	4300	6503	SO:0001819	synonymous_variant	140612				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57065114G>A		CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"""Zinc fingers, C2H2-type"", ""-"""	17801	protein-coding gene	gene with protein product			"""zinc finger protein 28 homolog (mouse)"""				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.960G>A	19.37:g.57065114G>A						AC007228.11_ENST00000596587.1_RNA	p.G320G	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN		GBM - Glioblastoma multiforme(193;0.0302)	8	1031	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	320					A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Silent	SNP	ENST00000301318.3	37	c.960G>A	CCDS12946.1																																																																																				0.403	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828		6	152	0	0	0	0.217242	0	6	152				
HJURP	55355	broad.mit.edu	37	2	234756069	234756069	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr2:234756069C>G	ENST00000411486.2	-	5	441	c.376G>C	c.(376-378)Gaa>Caa	p.E126Q	HJURP_ENST00000441687.1_Intron|HJURP_ENST00000434039.1_5'Flank|HJURP_ENST00000432087.1_Intron	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	126					cell cycle (GO:0007049)|CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|nucleosome assembly (GO:0006334)|regulation of DNA binding (GO:0051101)|regulation of protein complex assembly (GO:0043254)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|identical protein binding (GO:0042802)	p.E126Q(1)		NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		ACTGACTCTTCCTGGTCTGAC	0.488																																						ENST00000411486.2																			1	Substitution - Missense(1)	p.E126Q(1)	prostate(1)	NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(376-378)Gaa>Caa		Holliday junction recognition protein							119.0	100.0	107.0					2																	234756069		2203	4300	6503	SO:0001583	missense	55355				cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding	g.chr2:234756069C>G		CCDS33406.1, CCDS63166.1, CCDS63167.1	2q37.1	2007-12-06			ENSG00000123485	ENSG00000123485			25444	protein-coding gene	gene with protein product		612667				17823411	Standard	NM_001282962		Approved	DKFZp762E1312, URLC9, hFLEG1, FAKTS	uc002vvg.3	Q8NCD3	OTTHUMG00000059125	ENST00000411486.2:c.376G>C	2.37:g.234756069C>G	ENSP00000414109:p.Glu126Gln					HJURP_ENST00000441687.1_Intron|HJURP_ENST00000432087.1_Intron	p.E126Q	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)	5	441	-		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)	126					A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8	Missense_Mutation	SNP	ENST00000411486.2	37	c.376G>C	CCDS33406.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.712898	0.30413	.	.	ENSG00000123485	ENST00000411486;ENST00000454020	T;T	0.36157	3.11;1.27	3.14	3.14	0.36123	.	.	.	.	.	T	0.46852	0.1414	L	0.50333	1.59	0.30667	N	0.753772	D	0.76494	0.999	P	0.61275	0.886	T	0.40664	-0.9551	9	0.37606	T	0.19	-0.7578	10.0582	0.42259	0.0:1.0:0.0:0.0	.	126	Q8NCD3	HJURP_HUMAN	Q	126;85	ENSP00000414109:E126Q;ENSP00000414051:E85Q	ENSP00000414109:E126Q	E	-	1	0	HJURP	234420808	0.001000	0.12720	0.013000	0.15412	0.172000	0.22775	1.238000	0.32707	2.078000	0.62432	0.655000	0.94253	GAA		0.488	HJURP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130996.6	NM_018410		7	128	0	0	0	0.307466	0	7	128				
CYP4F3	4051	broad.mit.edu	37	19	15756624	15756624	+	Silent	SNP	C	C	A	rs199619994		TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr19:15756624C>A	ENST00000221307.8	+	3	341	c.294C>A	c.(292-294)atC>atA	p.I98I	CYP4F3_ENST00000586182.2_Intron|CYP4F3_ENST00000591058.1_Intron|CYP4F3_ENST00000585846.1_Intron	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	98					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)	p.I98I(1)		endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GGCACGCAATCGTCCGCATCT	0.582																																						ENST00000221307.7																			1	Substitution - coding silent(1)	p.I98I(1)	prostate(1)	endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						c.(292-294)atC>atA		cytochrome P450, family 4, subfamily F, polypeptide 3							122.0	104.0	110.0					19																	15756624		2203	4300	6503	SO:0001819	synonymous_variant	4051				leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	g.chr19:15756624C>A	AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"""Cytochrome P450s"""	2646	protein-coding gene	gene with protein product		601270	"""cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"""	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.294C>A	19.37:g.15756624C>A						CYP4F3_ENST00000585846.1_Intron|CYP4F3_ENST00000591058.1_Intron|CYP4F3_ENST00000586182.1_Intron	p.I98I	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN			3	342	+			98					B7Z8Z3|O60634|Q5U740	Silent	SNP	ENST00000221307.8	37	c.294C>A	CCDS12332.1																																																																																				0.582	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		48	75	1	0	3.05275e-18	0.864702	3.68125e-18	48	75				
E2F4	1874	broad.mit.edu	37	16	67234423	67234423	+	IGR	SNP	G	G	A			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr16:67234423G>A	ENST00000379378.3	+	0	2096				ELMO3_ENST00000360833.1_Nonsense_Mutation_p.W197*|ELMO3_ENST00000477898.1_Nonsense_Mutation_p.W48*|MIR328_ENST00000385213.1_RNA|ELMO3_ENST00000393997.2_Nonsense_Mutation_p.W214*|ELMO3_ENST00000571638.1_3'UTR	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding						blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.W214*(1)		breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		TGGTGTCCTGGGAGACTCTGA	0.652																																						ENST00000393997.2																			1	Substitution - Nonsense(1)	p.W214*(1)	prostate(1)	cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18						c.(640-642)tgG>tgA		engulfment and cell motility 3							52.0	53.0	53.0					16																	67234423		2040	4173	6213	SO:0001628	intergenic_variant	79767				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding	g.chr16:67234423G>A	BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975		16.37:g.67234423G>A						ELMO3_ENST00000571638.1_3'UTR|ELMO3_ENST00000360833.1_Nonsense_Mutation_p.W197*|ELMO3_ENST00000477898.1_Nonsense_Mutation_p.W48*	p.W214*	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)	6	699	+		Ovarian(137;0.0563)	161					A6NGR8|B5BU56|Q12991|Q15328	Nonsense_Mutation	SNP	ENST00000379378.3	37	c.642G>A	CCDS32464.1	.	.	.	.	.	.	.	.	.	.	G	35	5.559608	0.96514	.	.	ENSG00000102890	ENST00000360833;ENST00000393997	.	.	.	4.62	3.65	0.41850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.4195	12.939	0.58331	0.0:0.0:0.8368:0.1632	.	.	.	.	X	197;214	.	ENSP00000354077:W197X	W	+	3	0	ELMO3	65791924	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	6.247000	0.72411	1.160000	0.42584	0.462000	0.41574	TGG		0.652	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421565.1	NM_001950		3	68	0	0	0	0.115264	0	3	68				
ADCY6	112	broad.mit.edu	37	12	49176734	49176734	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr12:49176734G>A	ENST00000307885.4	-	1	1178	c.484C>T	c.(484-486)Ctc>Ttc	p.L162F	ADCY6_ENST00000550422.1_Missense_Mutation_p.L162F|ADCY6_ENST00000357869.3_Missense_Mutation_p.L162F	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	162					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.L162F(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						ACCGCTGTGAGCAGCACCAGC	0.652																																						ENST00000307885.4																			1	Substitution - Missense(1)	p.L162F(1)	prostate(1)	breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(484-486)Ctc>Ttc		adenylate cyclase 6							32.0	35.0	34.0					12																	49176734		2203	4300	6503	SO:0001583	missense	112				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	g.chr12:49176734G>A		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"""Adenylate cyclases"""	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.484C>T	12.37:g.49176734G>A	ENSP00000311405:p.Leu162Phe					ADCY6_ENST00000550422.1_Missense_Mutation_p.L162F|ADCY6_ENST00000357869.3_Missense_Mutation_p.L162F	p.L162F	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN			1	1178	-			162					Q9NR75|Q9UDB0	Missense_Mutation	SNP	ENST00000307885.4	37	c.484C>T	CCDS8767.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805116	0.50315	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	T;T;T	0.78816	-1.21;-1.21;-1.21	5.36	3.25	0.37280	.	0.086329	0.47852	D	0.000205	T	0.64260	0.2582	L	0.27053	0.805	0.36732	D	0.881757	P;P	0.48503	0.568;0.911	B;P	0.45037	0.263;0.467	T	0.63906	-0.6531	10	0.22706	T	0.39	.	8.0309	0.30465	0.0942:0.2845:0.6213:0.0	.	162;162	O43306-2;O43306	.;ADCY6_HUMAN	F	162	ENSP00000350536:L162F;ENSP00000446730:L162F;ENSP00000311405:L162F	ENSP00000311405:L162F	L	-	1	0	ADCY6	47463001	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	5.336000	0.65935	2.515000	0.84797	0.462000	0.41574	CTC		0.652	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983		18	24	0	0	0	0.539581	0	18	24				
CPVL	54504	broad.mit.edu	37	7	29070308	29070308	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr7:29070308C>T	ENST00000409850.1	-	16	1851	c.1205G>A	c.(1204-1206)gGc>gAc	p.G402D	CPVL_ENST00000265394.5_Missense_Mutation_p.G402D|CPVL_ENST00000396276.3_Missense_Mutation_p.G402D			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	402						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)	p.G402D(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						CCAGTCCATGCCCATCAAGGA	0.473																																						ENST00000409850.1																			1	Substitution - Missense(1)	p.G402D(1)	large_intestine(1)	NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						c.(1204-1206)gGc>gAc		carboxypeptidase, vitellogenic-like							138.0	135.0	136.0					7																	29070308		2203	4300	6503	SO:0001583	missense	54504				proteolysis		protein binding|serine-type carboxypeptidase activity	g.chr7:29070308C>T	AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"""carboxypeptidase WUG"", ""vitellogenic carboxypeptidase-like protein"", ""CP-Mac carboxypeptidase"""	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.1205G>A	7.37:g.29070308C>T	ENSP00000387164:p.Gly402Asp					CPVL_ENST00000265394.5_Missense_Mutation_p.G402D|CPVL_ENST00000396276.3_Missense_Mutation_p.G402D	p.G402D			Q9H3G5	CPVL_HUMAN			16	1851	-			402					A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Missense_Mutation	SNP	ENST00000409850.1	37	c.1205G>A	CCDS5419.1	.	.	.	.	.	.	.	.	.	.	C	6.225	0.409683	0.11812	.	.	ENSG00000106066	ENST00000265394;ENST00000396276;ENST00000455893;ENST00000409850	D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97	5.71	3.89	0.44902	.	0.441828	0.26341	N	0.024935	T	0.70971	0.3285	N	0.12569	0.235	0.26936	N	0.966341	B	0.33000	0.393	B	0.35971	0.215	T	0.59820	-0.7382	10	0.13853	T	0.58	1.8027	10.8978	0.47034	0.074:0.1348:0.7912:0.0	.	402	Q9H3G5	CPVL_HUMAN	D	402;402;67;402	ENSP00000265394:G402D;ENSP00000379572:G402D;ENSP00000403580:G67D;ENSP00000387164:G402D	ENSP00000265394:G402D	G	-	2	0	CPVL	29036833	1.000000	0.71417	0.990000	0.47175	0.079000	0.17450	4.614000	0.61183	1.404000	0.46819	-0.353000	0.07706	GGC		0.473	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029		7	647	0	0	0	0.248553	0	7	647				
DMBT1	1755	broad.mit.edu	37	10	124376760	124376760	+	Silent	SNP	T	T	G	rs200632336	byFrequency	TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr10:124376760T>G	ENST00000338354.3	+	37	4594	c.4488T>G	c.(4486-4488)tcT>tcG	p.S1496S	DMBT1_ENST00000368909.3_Silent_p.S1496S|DMBT1_ENST00000359586.6_Silent_p.S347S|DMBT1_ENST00000368956.2_Silent_p.S868S|DMBT1_ENST00000330163.4_Silent_p.S868S|DMBT1_ENST00000368955.3_Silent_p.S1486S|DMBT1_ENST00000344338.3_Silent_p.S1486S			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1496					defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGCCAACCTCTCGTGCATCAA	0.448																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000338354.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(4486-4488)tcT>tcG		deleted in malignant brain tumors 1							394.0	381.0	385.0					10																	124376760		1899	4124	6023	SO:0001819	synonymous_variant	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124376760T>G		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.4488T>G	10.37:g.124376760T>G						DMBT1_ENST00000330163.4_Silent_p.S868S|DMBT1_ENST00000368956.2_Silent_p.S868S|DMBT1_ENST00000368955.3_Silent_p.S1486S|DMBT1_ENST00000368909.3_Silent_p.S1496S|DMBT1_ENST00000344338.3_Silent_p.S1486S|DMBT1_ENST00000359586.6_Silent_p.S347S	p.S1496S			Q9UGM3	DMBT1_HUMAN			37	4594	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	1496					A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	ENST00000338354.3	37	c.4488T>G																																																																																					0.448	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		11	734	0	0	0	0.479597	0	11	734				
ZBTB37	84614	broad.mit.edu	37	1	173839439	173839439	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr1:173839439C>T	ENST00000367701.5	+	2	267	c.76C>T	c.(76-78)Cgc>Tgc	p.R26C	ZBTB37_ENST00000367704.1_Missense_Mutation_p.R26C|ZBTB37_ENST00000427304.1_Missense_Mutation_p.R26C|ZBTB37_ENST00000367702.1_Missense_Mutation_p.R26C|ZBTB37_ENST00000432989.1_Missense_Mutation_p.R26C|GAS5_ENST00000364084.1_RNA			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37	26					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						AAACCAGTTGCGCATGCAGGG	0.527																																						ENST00000367704.1																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						c.(76-78)Cgc>Tgc		zinc finger and BTB domain containing 37							80.0	74.0	76.0					1																	173839439		2203	4300	6503	SO:0001583	missense	84614				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:173839439C>T	AK057310	CCDS1312.1, CCDS44278.1	1q24.2	2013-01-08			ENSG00000185278	ENSG00000185278		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	28365	protein-coding gene	gene with protein product						12477932	Standard	NM_032522		Approved	MGC2629, ZNF908	uc009wwp.1	Q5TC79	OTTHUMG00000037274	ENST00000367701.5:c.76C>T	1.37:g.173839439C>T	ENSP00000356674:p.Arg26Cys					ZBTB37_ENST00000432989.1_Missense_Mutation_p.R26C|ZBTB37_ENST00000427304.1_Missense_Mutation_p.R26C|ZBTB37_ENST00000367702.1_Missense_Mutation_p.R26C|ZBTB37_ENST00000367701.4_Missense_Mutation_p.R26C	p.R26C			Q5TC79	ZBT37_HUMAN			3	475	+			26					Q5TC80|Q96M87|Q9BQ88	Missense_Mutation	SNP	ENST00000367701.5	37	c.76C>T	CCDS44278.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.152567	0.78001	.	.	ENSG00000185278	ENST00000367704;ENST00000427304;ENST00000432989;ENST00000367702;ENST00000367701	T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72	5.6	4.68	0.58851	BTB/POZ (1);BTB/POZ fold (2);	0.098719	0.64402	D	0.000001	D	0.85405	0.5689	M	0.92833	3.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.89855	0.4012	10	0.87932	D	0	.	16.5059	0.84272	0.0:0.869:0.131:0.0	.	26;26	Q5TC79;Q5TC79-2	ZBT37_HUMAN;.	C	26	ENSP00000356677:R26C;ENSP00000415293:R26C;ENSP00000409408:R26C;ENSP00000356675:R26C;ENSP00000356674:R26C	ENSP00000356674:R26C	R	+	1	0	ZBTB37	172106062	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.818000	0.86416	1.350000	0.45770	0.563000	0.77884	CGC		0.527	ZBTB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090729.2	NM_032522		4	108	0	0	0	0.150653	0	4	108				
SDHAP1	255812	broad.mit.edu	37	3	195711466	195711466	+	RNA	SNP	G	G	T			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr3:195711466G>T	ENST00000427841.1	-	0	481					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		GCCCATCACCGCGACCATGGC	0.582																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195711466G>T	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195711466G>T								NR_003264.2						0	481	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.582	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			3	70	1	0	0.00909568	0.150653	0.00956213	3	70				
FAM174B	400451	broad.mit.edu	37	15	93162648	93162648	+	3'UTR	SNP	A	A	G			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr15:93162648A>G	ENST00000327355.5	-	0	816				FAM174B_ENST00000555064.1_Missense_Mutation_p.W32R|FAM174B_ENST00000555748.1_Missense_Mutation_p.W32R|FAM174B_ENST00000555696.1_Missense_Mutation_p.W32R|FAM174B_ENST00000553393.1_Intron|RP11-386M24.9_ENST00000607766.1_RNA	NM_207446.2	NP_997329.2	Q3ZCQ3	F174B_HUMAN	family with sequence similarity 174, member B							integral component of membrane (GO:0016021)				endometrium(2)|lung(1)	3						GCAGCTGACCAACTTTCCACA	0.527																																						ENST00000555748.1																			0				endometrium(2)|lung(1)	3						c.(94-96)Tgg>Cgg		family with sequence similarity 174, member B							54.0	59.0	57.0					15																	93162648		2006	4182	6188	SO:0001624	3_prime_UTR_variant	400451					integral to membrane		g.chr15:93162648A>G		CCDS45355.1	15q26.1	2012-10-03			ENSG00000185442	ENSG00000185442			34339	protein-coding gene	gene with protein product							Standard	NM_207446		Approved	LOC400451, MGC102891	uc010boe.3	Q3ZCQ3	OTTHUMG00000171744	ENST00000327355.5:c.*38T>C	15.37:g.93162648A>G						FAM174B_ENST00000327355.5_3'UTR|FAM174B_ENST00000555696.1_Missense_Mutation_p.W32R|FAM174B_ENST00000553393.1_Intron|FAM174B_ENST00000555064.1_Missense_Mutation_p.W32R|RP11-386M24.9_ENST00000607766.1_RNA	p.W32R			Q3ZCQ3	F174B_HUMAN			3	447	-			0					Q3ZCR9|Q8NBH7	Missense_Mutation	SNP	ENST00000327355.5	37	c.94T>C	CCDS45355.1	.	.	.	.	.	.	.	.	.	.	A	4.414	0.076586	0.08485	.	.	ENSG00000185442	ENST00000555748	.	.	.	2.89	1.75	0.24633	.	.	.	.	.	T	0.25419	0.0618	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.21999	-1.0229	4	.	.	.	.	4.8392	0.13481	0.8543:0.0:0.1457:0.0	.	.	.	.	R	32	.	.	W	-	1	0	FAM174B	90963652	0.000000	0.05858	0.027000	0.17364	0.889000	0.51656	0.270000	0.18607	0.517000	0.28361	0.459000	0.35465	TGG		0.527	FAM174B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414931.1	NM_207446		19	28	0	0	0	0.575678	0	19	28				
SRSF1	6426	broad.mit.edu	37	17	56083187	56083187	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr17:56083187T>C	ENST00000258962.4	-	3	735	c.527A>G	c.(526-528)gAt>gGt	p.D176G	RP11-159D12.5_ENST00000578794.1_5'Flank|SRSF1_ENST00000585096.1_Intron|SRSF1_ENST00000581497.1_5'Flank|SRSF1_ENST00000584773.1_Missense_Mutation_p.D176G|SRSF1_ENST00000582730.2_Missense_Mutation_p.D176G	NM_006924.4	NP_008855.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	176	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cardiac muscle contraction (GO:0060048)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA 3'-end processing (GO:0031124)|mRNA 5'-splice site recognition (GO:0000395)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.D176G(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTTAGTGTTATCCAGTTTTCG	0.403																																						ENST00000582730.2																			1	Substitution - Missense(1)	p.D176G(1)	prostate(1)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(526-528)gAt>gGt		serine/arginine-rich splicing factor 1							150.0	126.0	134.0					17																	56083187		2203	4300	6503	SO:0001583	missense	6426				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytoplasm|nuclear speck	nucleotide binding|RNA binding	g.chr17:56083187T>C		CCDS11600.1, CCDS58580.1	17q22	2013-02-12	2010-06-22	2010-06-22	ENSG00000136450	ENSG00000136450		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10780	protein-coding gene	gene with protein product	"""splicing factor 2"", ""pre-mRNA-splicing factor SF2, P33 subunit"", ""alternate splicing factor"", ""SR splicing factor 1"""	600812	"""splicing factor, arginine/serine-rich 1"""	SFRS1		8530103, 20516191	Standard	NM_006924		Approved	ASF, SF2, SRp30a, SF2p33, MGC5228	uc002ivi.3	Q07955		ENST00000258962.4:c.527A>G	17.37:g.56083187T>C	ENSP00000258962:p.Asp176Gly					SRSF1_ENST00000258962.4_Missense_Mutation_p.D176G|SRSF1_ENST00000585096.1_Intron|SRSF1_ENST00000584773.1_Missense_Mutation_p.D176G	p.D176G	NM_001078166.1	NP_001071634.1	Q07955	SRSF1_HUMAN			3	650	-			176			RRM 2.		B2R6Z7|D3DTZ3|Q13809	Missense_Mutation	SNP	ENST00000258962.4	37	c.527A>G	CCDS11600.1	.	.	.	.	.	.	.	.	.	.	T	14.45	2.540361	0.45176	.	.	ENSG00000136450	ENST00000258962	T	0.18657	2.2	5.65	5.65	0.86999	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.59074	0.2167	H	0.94771	3.58	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.994;0.995	T	0.71902	-0.4452	10	0.87932	D	0	.	16.1864	0.81955	0.0:0.0:0.0:1.0	.	208;176	Q59FA2;Q07955	.;SRSF1_HUMAN	G	176	ENSP00000258962:D176G	ENSP00000258962:D176G	D	-	2	0	SRSF1	53438186	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.619000	0.83057	2.281000	0.76405	0.528000	0.53228	GAT		0.403	SRSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443335.1	NM_006924		85	117	0	0	0	0.870114	0	85	117				
SPG11	80208	broad.mit.edu	37	15	44944401	44944401	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr15:44944401C>A	ENST00000261866.7	-	5	949	c.933G>T	c.(931-933)aaG>aaT	p.K311N	SPG11_ENST00000535302.2_Missense_Mutation_p.K311N|SPG11_ENST00000558319.1_Missense_Mutation_p.K311N|SPG11_ENST00000427534.2_Missense_Mutation_p.K311N|SPG11_ENST00000559193.1_Missense_Mutation_p.K311N	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	311					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CATCTACGCCCTTAGGTCCTT	0.373																																						ENST00000261866.7																			0				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72						c.(931-933)aaG>aaT		spastic paraplegia 11 (autosomal recessive)							129.0	116.0	120.0					15																	44944401		2198	4298	6496	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44944401C>A		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.933G>T	15.37:g.44944401C>A	ENSP00000261866:p.Lys311Asn					SPG11_ENST00000427534.2_Missense_Mutation_p.K311N|SPG11_ENST00000535302.2_Missense_Mutation_p.K311N|SPG11_ENST00000558319.1_Missense_Mutation_p.K311N|SPG11_ENST00000559193.1_Missense_Mutation_p.K311N	p.K311N	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	5	949	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	311					A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.933G>T	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	C	9.469	1.095021	0.20471	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.77489	-1.1;-0.84;-0.84	4.98	0.0854	0.14441	.	0.657162	0.13932	N	0.352812	T	0.65026	0.2652	L	0.44542	1.39	0.22401	N	0.999134	B;B;B;B	0.32467	0.118;0.306;0.372;0.118	B;B;B;B	0.30316	0.07;0.1;0.114;0.07	T	0.54180	-0.8332	10	0.45353	T	0.12	.	6.6687	0.23056	0.0:0.3894:0.0:0.6106	.	311;311;311;311	C4B7M2;F5H3N6;B9EK60;Q96JI7	.;.;.;SPTCS_HUMAN	N	311	ENSP00000261866:K311N;ENSP00000445278:K311N;ENSP00000396110:K311N	ENSP00000261866:K311N	K	-	3	2	SPG11	42731693	0.040000	0.19996	0.972000	0.41901	0.518000	0.34316	-0.152000	0.10159	0.155000	0.19261	0.313000	0.20887	AAG		0.373	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			4	181	1	0	0.00909568	0.150653	0.00956213	4	181				
ASAP2	8853	broad.mit.edu	37	2	9484930	9484930	+	Splice_Site	SNP	G	G	A			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr2:9484930G>A	ENST00000281419.3	+	11	1363		c.e11+1		ASAP2_ENST00000315273.4_Splice_Site	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2						positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						CCATGGTACCGTAAGTATTCT	0.423																																						ENST00000281419.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						c.e11+1		ArfGAP with SH3 domain, ankyrin repeat and PH domain 2							121.0	110.0	114.0					2																	9484930		2203	4300	6503	SO:0001630	splice_region_variant	8853				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr2:9484930G>A	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.1023+1G>A	2.37:g.9484930G>A						ASAP2_ENST00000315273.4_Splice_Site		NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN			11	1363	+								D6W4Y8	Splice_Site	SNP	ENST00000281419.3	37		CCDS1661.1	.	.	.	.	.	.	.	.	.	.	G	33	5.247931	0.95305	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8942	0.96945	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ASAP2	9402381	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	9.458000	0.97634	2.692000	0.91855	0.655000	0.94253	.		0.423	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887	Intron	4	117	0	0	0	0.150653	0	4	117				
SPOP	8405	broad.mit.edu	37	17	47696432	47696432	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr17:47696432A>C	ENST00000393328.2	-	6	756	c.391T>G	c.(391-393)Tgg>Ggg	p.W131G	SPOP_ENST00000503676.1_Missense_Mutation_p.W131G|SPOP_ENST00000393331.3_Missense_Mutation_p.W131G|SPOP_ENST00000504102.1_Missense_Mutation_p.W131G|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000347630.2_Missense_Mutation_p.W131G	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	131	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.W131G(2)|p.W131R(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TTGAATCCCCAGTCTTTGCCT	0.458										Prostate(2;0.17)																												ENST00000393331.3																			3	Substitution - Missense(3)	p.W131G(2)|p.W131R(1)	prostate(3)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(391-393)Tgg>Ggg		speckle-type POZ protein							121.0	124.0	123.0					17																	47696432		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696432A>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.391T>G	17.37:g.47696432A>C	ENSP00000377001:p.Trp131Gly	Prostate(2;0.17)				SPOP_ENST00000393328.2_Missense_Mutation_p.W131G|SPOP_ENST00000347630.2_Missense_Mutation_p.W131G|SPOP_ENST00000503676.1_Missense_Mutation_p.W131G|SPOP_ENST00000504102.1_Missense_Mutation_p.W131G	p.W131G	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	861	-			131			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.391T>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.058244	0.76074	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.81851	0.4910	H	0.95402	3.665	0.80722	D	1	P	0.43024	0.798	P	0.47786	0.557	D	0.87031	0.2135	10	0.72032	D	0.01	0.1404	15.258	0.73599	1.0:0.0:0.0:0.0	.	131	O43791	SPOP_HUMAN	G	131;131;131;131;15;131;84;131;131;131;131	ENSP00000377001:W131G;ENSP00000377004:W131G;ENSP00000240327:W131G;ENSP00000425905:W131G;ENSP00000420908:W131G;ENSP00000426986:W131G;ENSP00000420960:W131G;ENSP00000426262:W131G;ENSP00000424119:W131G	ENSP00000240327:W131G	W	-	1	0	SPOP	45051431	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.056000	0.93881	2.261000	0.74972	0.460000	0.39030	TGG		0.458	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		139	222	0	0	0	0.870114	0	139	222				
STAMBP	10617	broad.mit.edu	37	2	74072296	74072296	+	Silent	SNP	A	A	G			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr2:74072296A>G	ENST00000394070.2	+	4	785	c.282A>G	c.(280-282)aaA>aaG	p.K94K	STAMBP_ENST00000536064.1_Silent_p.K94K|STAMBP_ENST00000339566.3_Silent_p.K94K|STAMBP_ENST00000409707.1_Silent_p.K94K|STAMBP_ENST00000394073.1_Silent_p.K94K	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	94	Interaction with CHMP3.				JAK-STAT cascade (GO:0007259)|mitotic cytokinesis (GO:0000281)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of cell proliferation (GO:0008284)|protein deubiquitination (GO:0016579)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|ubiquitin-specific protease activity (GO:0004843)	p.K94K(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						TGTCTCAGAAATTAAAGGAGA	0.343																																						ENST00000394070.2																			1	Substitution - coding silent(1)	p.K94K(1)	prostate(1)	NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						c.(280-282)aaA>aaG		STAM binding protein							47.0	49.0	49.0					2																	74072296		2202	4299	6501	SO:0001819	synonymous_variant	10617				JAK-STAT cascade|positive regulation of cell proliferation	early endosome|membrane|nucleus	metal ion binding|metallopeptidase activity|protein binding	g.chr2:74072296A>G	BC007682	CCDS1929.1	2p24.3-p24.1	2008-02-05			ENSG00000124356	ENSG00000124356			16950	protein-coding gene	gene with protein product		606247				10383417	Standard	NM_006463		Approved	AMSH	uc002sjs.3	O95630	OTTHUMG00000129817	ENST00000394070.2:c.282A>G	2.37:g.74072296A>G						STAMBP_ENST00000409707.1_Silent_p.K94K|STAMBP_ENST00000394073.1_Silent_p.K94K|STAMBP_ENST00000339566.3_Silent_p.K94K|STAMBP_ENST00000536064.1_Silent_p.K94K	p.K94K	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN			4	785	+			94			Interaction with CHMP3.		B5M0B6|D6W5H7|Q3MJE7	Silent	SNP	ENST00000394070.2	37	c.282A>G	CCDS1929.1																																																																																				0.343	STAMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252048.2	NM_006463		41	53	0	0	0	0.840704	0	41	53				
MAST2	23139	broad.mit.edu	37	1	46497980	46497980	+	Silent	SNP	C	C	T			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr1:46497980C>T	ENST00000361297.2	+	25	3601	c.3318C>T	c.(3316-3318)atC>atT	p.I1106I	MAST2_ENST00000372009.2_Intron	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CTCCCATCATCATCCACCGAG	0.572																																						ENST00000361297.2																			0				breast(1)|lung(3)|ovary(5)|stomach(2)	11						c.(3316-3318)atC>atT		microtubule associated serine/threonine kinase 2							79.0	85.0	83.0					1																	46497980		2177	4291	6468	SO:0001819	synonymous_variant	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46497980C>T	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.3318C>T	1.37:g.46497980C>T						MAST2_ENST00000372009.2_Intron|MAST2_ENST00000372008.1_Intron	p.I1106I	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN			25	3601	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		1106			PDZ.			Silent	SNP	ENST00000361297.2	37	c.3318C>T	CCDS41326.1																																																																																				0.572	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		4	117	0	0	0	0.307466	0	4	117				
LRIG3	121227	broad.mit.edu	37	12	59283855	59283855	+	Silent	SNP	G	G	A			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr12:59283855G>A	ENST00000320743.3	-	5	868	c.582C>T	c.(580-582)ctC>ctT	p.L194L	LRIG3_ENST00000379141.4_Silent_p.L134L	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	194					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TTAACACAAGGAGTGTGTTGG	0.423			T	ROS1	NSCLC																																	ENST00000320743.3				Dom	yes		12	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3			E	ROS1		NSCLC	LRIG3/ROS1(2)	0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(580-582)ctC>ctT		leucine-rich repeats and immunoglobulin-like domains 3							259.0	250.0	253.0					12																	59283855		2203	4300	6503	SO:0001819	synonymous_variant	121227					integral to membrane		g.chr12:59283855G>A	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.582C>T	12.37:g.59283855G>A						LRIG3_ENST00000379141.4_Silent_p.L134L	p.L194L	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		5	868	-			194					Q6UXL7|Q8NC72	Silent	SNP	ENST00000320743.3	37	c.582C>T	CCDS8960.1																																																																																				0.423	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		6	412	0	0	0	0.307466	0	6	412				
CREBBP	1387	broad.mit.edu	37	16	3778253	3778253	+	Silent	SNP	C	C	T			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr16:3778253C>T	ENST00000262367.5	-	31	7604	c.6795G>A	c.(6793-6795)gcG>gcA	p.A2265A	CREBBP_ENST00000382070.3_Silent_p.A2227A	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2265					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.A2265A(2)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CCATCTGAGCCGCCATCTGGC	0.672			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		2	Substitution - coding silent(2)	p.A2265A(2)	prostate(2)	NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(6793-6795)gcG>gcA		CREB binding protein							21.0	23.0	22.0					16																	3778253		2196	4296	6492	SO:0001819	synonymous_variant	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3778253C>T	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.6795G>A	16.37:g.3778253C>T						CREBBP_ENST00000382070.3_Silent_p.A2227A	p.A2265A	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	31	7604	-		Ovarian(90;0.0266)	2265					D3DUC9|O00147|Q16376|Q4LE28	Silent	SNP	ENST00000262367.5	37	c.6795G>A	CCDS10509.1																																																																																				0.672	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		29	29	0	0	0	0.750413	0	29	29				
SLC9A9	285195	broad.mit.edu	37	3	143100949	143100949	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr3:143100949C>T	ENST00000316549.6	-	13	1685	c.1477G>A	c.(1477-1479)Gtg>Atg	p.V493M	SLC9A9-AS2_ENST00000490153.1_RNA	NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	493					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TCCAGGTCCACGCCAACTCTG	0.438																																						ENST00000316549.6																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						c.(1477-1479)Gtg>Atg		solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9							187.0	182.0	183.0					3																	143100949		2203	4300	6503	SO:0001583	missense	285195				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	g.chr3:143100949C>T	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.1477G>A	3.37:g.143100949C>T	ENSP00000320246:p.Val493Met					SLC9A9-AS2_ENST00000490153.1_RNA	p.V493M	NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN			13	1685	-			493					A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	ENST00000316549.6	37	c.1477G>A	CCDS33872.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026124	0.54683	.	.	ENSG00000181804	ENST00000316549	T	0.30714	1.52	5.11	4.24	0.50183	.	0.350509	0.24330	N	0.039471	T	0.33177	0.0854	M	0.80332	2.49	0.46542	D	0.999099	P	0.38420	0.63	B	0.33750	0.169	T	0.29336	-1.0015	10	0.66056	D	0.02	.	9.1529	0.36973	0.0:0.9029:0.0:0.0971	.	493	Q8IVB4	SL9A9_HUMAN	M	493	ENSP00000320246:V493M	ENSP00000320246:V493M	V	-	1	0	SLC9A9	144583639	0.990000	0.36364	0.987000	0.45799	0.986000	0.74619	1.403000	0.34612	1.376000	0.46267	0.655000	0.94253	GTG		0.438	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		6	573	0	0	0	0.248553	0	6	573				
CRNKL1	51340	broad.mit.edu	37	20	20028414	20028414	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr20:20028414T>C	ENST00000377340.2	-	6	1131	c.1100A>G	c.(1099-1101)gAg>gGg	p.E367G	CRNKL1_ENST00000536226.1_Missense_Mutation_p.E206G|CRNKL1_ENST00000377327.4_Missense_Mutation_p.E355G	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	367					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						GATATATCGCTCATAAATGGT	0.517																																						ENST00000377340.2																			0				breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						c.(1099-1101)gAg>gGg		crooked neck pre-mRNA splicing factor 1							102.0	93.0	96.0					20																	20028414		2203	4300	6503	SO:0001583	missense	51340				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding	g.chr20:20028414T>C	AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"""SYF3 pre-mRNA-splicing factor"""	610952	"""crooked neck (Drosophila Crn homolog)-like 1"", ""Crn, crooked neck-like 1 (Drosophila)"", ""crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"""				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.1100A>G	20.37:g.20028414T>C	ENSP00000366557:p.Glu367Gly					CRNKL1_ENST00000377327.4_Missense_Mutation_p.E355G|CRNKL1_ENST00000536226.1_Missense_Mutation_p.E206G	p.E367G	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN			6	1131	-			367					A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Missense_Mutation	SNP	ENST00000377340.2	37	c.1100A>G	CCDS33446.1	.	.	.	.	.	.	.	.	.	.	T	19.78	3.891681	0.72524	.	.	ENSG00000101343	ENST00000377327;ENST00000377340;ENST00000536226	T;T;T	0.10573	2.86;2.86;2.86	5.62	5.62	0.85841	Tetratricopeptide-like helical (1);	0.379480	0.31495	N	0.007560	T	0.31979	0.0814	M	0.89715	3.055	0.80722	D	1	P;P	0.35307	0.494;0.494	B;P	0.45794	0.371;0.493	T	0.13737	-1.0498	10	0.66056	D	0.02	-12.8502	15.8286	0.78733	0.0:0.0:0.0:1.0	.	355;367	Q5JY65;Q9BZJ0	.;CRNL1_HUMAN	G	355;367;206	ENSP00000366544:E355G;ENSP00000366557:E367G;ENSP00000440733:E206G	ENSP00000366544:E355G	E	-	2	0	CRNKL1	19976414	1.000000	0.71417	0.961000	0.40146	0.966000	0.64601	8.040000	0.89188	2.145000	0.66743	0.533000	0.62120	GAG		0.517	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000127787.1			3	103	0	0	0	0.150653	0	3	103				
OTOGL	283310	broad.mit.edu	37	12	80658832	80658832	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr12:80658832G>T	ENST00000547103.1	+	19	2045	c.2039G>T	c.(2038-2040)tGc>tTc	p.C680F	OTOGL_ENST00000458043.2_Missense_Mutation_p.C680F			Q3ZCN5	OTOGL_HUMAN	otogelin-like	680	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)	p.C680F(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTTGCTCCTTGCCACATCTAT	0.493																																						ENST00000458043.2																			1	Substitution - Missense(1)	p.C680F(1)	prostate(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.(2038-2040)tGc>tTc		otogelin-like							194.0	195.0	194.0					12																	80658832		2040	4211	6251	SO:0001583	missense	283310							g.chr12:80658832G>T	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.2039G>T	12.37:g.80658832G>T	ENSP00000447211:p.Cys680Phe					OTOGL_ENST00000547103.1_Missense_Mutation_p.C680F	p.C680F	NM_173591.3	NP_775862.3					19	2045	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	37	c.2039G>T		.	.	.	.	.	.	.	.	.	.	G	20.9	4.073840	0.76415	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	D;D	0.86297	-2.1;-2.1	6.06	6.06	0.98353	.	.	.	.	.	D	0.96300	0.8793	H	0.96943	3.91	0.80722	D	1	.	.	.	.	.	.	D	0.96754	0.9556	7	0.87932	D	0	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	.	.	.	F	680	ENSP00000447211:C680F;ENSP00000400895:C680F	ENSP00000400895:C680F	C	+	2	0	OTOGL	79182963	1.000000	0.71417	1.000000	0.80357	0.560000	0.35617	9.476000	0.97823	2.882000	0.98803	0.655000	0.94253	TGC		0.493	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		172	270	1	0	1.05207e-69	0.870114	1.30711e-69	172	270				
KIF14	9928	broad.mit.edu	37	1	200587742	200587742	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr1:200587742T>G	ENST00000367350.4	-	2	548	c.110A>C	c.(109-111)aAg>aCg	p.K37T		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	37	Required for PRC1-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)	p.K37T(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						CAAATGCAGCTTAAGTCGGCT	0.368																																						ENST00000367350.4																			1	Substitution - Missense(1)	p.K37T(1)	prostate(1)	NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						c.(109-111)aAg>aCg		kinesin family member 14							98.0	91.0	93.0					1																	200587742		2203	4300	6503	SO:0001583	missense	9928				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	g.chr1:200587742T>G	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.110A>C	1.37:g.200587742T>G	ENSP00000356319:p.Lys37Thr						p.K37T	NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN			2	548	-			37			Required for PRC1-binding.		Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	c.110A>C	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.122250	0.77436	.	.	ENSG00000118193	ENST00000367350	T	0.73789	-0.78	5.95	4.83	0.62350	.	0.782006	0.12090	N	0.500465	T	0.59555	0.2202	N	0.24115	0.695	0.09310	N	1	P	0.38922	0.651	B	0.38428	0.273	T	0.49908	-0.8889	10	0.33141	T	0.24	.	7.2159	0.25959	0.0:0.1593:0.0:0.8407	.	37	Q15058	KIF14_HUMAN	T	37	ENSP00000356319:K37T	ENSP00000356319:K37T	K	-	2	0	KIF14	198854365	0.162000	0.22906	0.009000	0.14445	0.889000	0.51656	3.623000	0.54224	2.277000	0.76020	0.533000	0.62120	AAG		0.368	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875		48	161	0	0	0	0.870114	0	48	161				
ENTPD4	9583	broad.mit.edu	37	8	23290499	23290499	+	Silent	SNP	C	C	T	rs367984909		TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr8:23290499C>T	ENST00000358689.4	-	13	2026	c.1791G>A	c.(1789-1791)tcG>tcA	p.S597S	ENTPD4_ENST00000356206.6_Intron|ENTPD4_ENST00000521321.1_Intron|ENTPD4_ENST00000417069.2_Silent_p.S589S	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	597					UDP catabolic process (GO:0006256)	cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)	uridine-diphosphatase activity (GO:0045134)	p.S597S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		GGGCGGCGGCCGAGCTGCTCC	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		12680	0.0		0.0	False		,,,				2504	0.001					ENST00000358689.4																			1	Substitution - coding silent(1)	p.S597S(1)	prostate(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25						c.(1789-1791)tcG>tcA		ectonucleoside triphosphate diphosphohydrolase 4							27.0	30.0	29.0					8																	23290499		2201	4300	6501	SO:0001819	synonymous_variant	9583				UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity	g.chr8:23290499C>T	AJ131358	CCDS6041.1, CCDS47827.1	8p21.3	2014-05-16	2004-09-22	2004-09-22	ENSG00000197217	ENSG00000197217			14573	protein-coding gene	gene with protein product		607577	"""lysosomal apyrase-like 1"""	LYSAL1		10393803, 9205841	Standard	NM_001128930		Approved	LALP70, LAP70, KIAA0392, NTPDase-4, UDPase	uc003xdl.3	Q9Y227	OTTHUMG00000097852	ENST00000358689.4:c.1791G>A	8.37:g.23290499C>T						ENTPD4_ENST00000521321.1_Intron|ENTPD4_ENST00000356206.6_Intron|ENTPD4_ENST00000417069.2_Silent_p.S589S	p.S597S	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)	13	2026	-		Prostate(55;0.114)	597					D3DSS3|O15092	Silent	SNP	ENST00000358689.4	37	c.1791G>A	CCDS6041.1																																																																																				0.647	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215142.1	NM_004901		4	4	0	0	0	0.150653	0	4	4				
PCDHB7	56129	broad.mit.edu	37	5	140553130	140553130	+	Silent	SNP	C	C	T			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr5:140553130C>T	ENST00000231137.3	+	1	888	c.714C>T	c.(712-714)aaC>aaT	p.N238N		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	238	Cadherin 2. {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)	p.N238N(3)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAAATGACAACGCCCCTGATT	0.542																																						ENST00000231137.3																			3	Substitution - coding silent(3)	p.N238N(3)	prostate(2)|endometrium(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(712-714)aaC>aaT									60.0	63.0	62.0					5																	140553130		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553130C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.714C>T	5.37:g.140553130C>T							p.N238N	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	888	+			238			Cadherin 2.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.714C>T	CCDS4249.1																																																																																				0.542	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		8	131	0	0	0	0.307466	0	8	131				
TRPA1	8989	broad.mit.edu	37	8	72963064	72963064	+	Silent	SNP	G	G	A			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr8:72963064G>A	ENST00000262209.4	-	15	2061	c.1854C>T	c.(1852-1854)ggC>ggT	p.G618G	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	618					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.G618G(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GACATTTATTGCCTGGAGAAT	0.338																																						ENST00000262209.4																			2	Substitution - coding silent(2)	p.G618G(2)	prostate(2)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(1852-1854)ggC>ggT		transient receptor potential cation channel, subfamily A, member 1	Menthol(DB00825)						110.0	113.0	112.0					8																	72963064		2202	4297	6499	SO:0001819	synonymous_variant	8989					integral to plasma membrane		g.chr8:72963064G>A	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1854C>T	8.37:g.72963064G>A						RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron	p.G618G	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		15	2061	-			618					A6NIN6	Silent	SNP	ENST00000262209.4	37	c.1854C>T	CCDS34908.1																																																																																				0.338	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		56	108	0	0	0	0.870114	0	56	108				
UBE4B	10277	broad.mit.edu	37	1	10207138	10207138	+	Missense_Mutation	SNP	G	G	A	rs147329205		TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr1:10207138G>A	ENST00000253251.8	+	18	3033	c.2194G>A	c.(2194-2196)Gca>Aca	p.A732T	UBE4B_ENST00000343090.6_Missense_Mutation_p.A861T|UBE4B_ENST00000377157.3_Missense_Mutation_p.A616T					ubiquitination factor E4B									p.A732T(1)|p.A861T(1)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CCTGGACCCCGCATATCCCGA	0.493																																						ENST00000377157.3																			2	Substitution - Missense(2)	p.A732T(1)|p.A861T(1)	lung(2)	NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(1846-1848)Gca>Aca		ubiquitination factor E4B							178.0	169.0	172.0					1																	10207138		2203	4300	6503	SO:0001583	missense	10277				apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	g.chr1:10207138G>A	AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.2194G>A	1.37:g.10207138G>A	ENSP00000253251:p.Ala732Thr					UBE4B_ENST00000343090.6_Missense_Mutation_p.A861T|UBE4B_ENST00000253251.8_Missense_Mutation_p.A732T	p.A616T	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)	18	2907	+		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	861						Missense_Mutation	SNP	ENST00000253251.8	37	c.1846G>A	CCDS110.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.208293	0.58343	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.42513	0.97;0.97;0.97	5.68	5.68	0.88126	Ubiquitin conjugation factor E4, core (1);	0.051667	0.85682	D	0.000000	T	0.19127	0.0459	N	0.03324	-0.35	0.54753	D	0.999987	B;B;B	0.30439	0.017;0.279;0.014	B;B;B	0.19391	0.005;0.025;0.003	T	0.17531	-1.0366	10	0.14252	T	0.57	-17.6257	14.6722	0.68953	0.0:0.0:0.8548:0.1452	.	732;861;732	A8K8S9;O95155;O95155-2	.;UBE4B_HUMAN;.	T	732;616;861	ENSP00000253251:A732T;ENSP00000366362:A616T;ENSP00000343001:A861T	ENSP00000253251:A732T	A	+	1	0	UBE4B	10129725	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	6.270000	0.72563	2.700000	0.92200	0.558000	0.71614	GCA		0.493	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048		6	343	0	0	0	0.248553	0	6	343				
HIPK3	10114	broad.mit.edu	37	11	33373268	33373268	+	Silent	SNP	T	T	C			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr11:33373268T>C	ENST00000303296.4	+	15	3227	c.2922T>C	c.(2920-2922)caT>caC	p.H974H	HIPK3_ENST00000456517.1_Silent_p.H953H|AL122015.1_ENST00000411202.1_RNA|HIPK3_ENST00000525975.1_Silent_p.H953H|HIPK3_ENST00000379016.3_Silent_p.H953H	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	974	Required for localization to nuclear speckles. {ECO:0000250}.				apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.H974H(1)		endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						AGGACACTCATGAAAACACAG	0.483																																						ENST00000303296.4																			1	Substitution - coding silent(1)	p.H974H(1)	prostate(1)	endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						c.(2920-2922)caT>caC		homeodomain interacting protein kinase 3							125.0	109.0	114.0					11																	33373268		2202	4298	6500	SO:0001819	synonymous_variant	10114				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:33373268T>C	AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"""homeodomain-interacting protein kinase 3"""			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.2922T>C	11.37:g.33373268T>C						HIPK3_ENST00000525975.1_Silent_p.H953H|HIPK3_ENST00000456517.1_Silent_p.H953H|HIPK3_ENST00000379016.3_Silent_p.H953H	p.H974H	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN			15	3227	+			974			Required for localization to nuclear speckles (By similarity).		O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Silent	SNP	ENST00000303296.4	37	c.2922T>C	CCDS7884.1																																																																																				0.483	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	NM_005734		40	139	0	0	0	0.834066	0	40	139				
SP1	6667	broad.mit.edu	37	12	53804756	53804756	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr12:53804756G>A	ENST00000327443.4	+	6	2188	c.2090G>A	c.(2089-2091)aGg>aAg	p.R697K	SP1_ENST00000426431.2_Missense_Mutation_p.R690K	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	697	VZV IE62-binding.				cellular lipid metabolic process (GO:0044255)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|gene expression (GO:0010467)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|ossification (GO:0001503)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	bHLH transcription factor binding (GO:0043425)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|histone deacetylase binding (GO:0042826)|HMG box domain binding (GO:0071837)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.R697K(1)		breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		CGCTTCATGAGGAGTGACCAC	0.493																																						ENST00000426431.2																			1	Substitution - Missense(1)	p.R697K(1)	prostate(1)	breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5						c.(2068-2070)aGg>aAg		Sp1 transcription factor							160.0	166.0	164.0					12																	53804756		2203	4300	6503	SO:0001583	missense	0				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:53804756G>A	J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08						"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11205	protein-coding gene	gene with protein product	"""specificity protein 1"""	189906				1662663	Standard	NM_003109		Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000327443.4:c.2090G>A	12.37:g.53804756G>A	ENSP00000329357:p.Arg697Lys					SP1_ENST00000327443.4_Missense_Mutation_p.R697K	p.R690K	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.00527)	6	2129	+			697			VZV IE62-binding.		E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	Missense_Mutation	SNP	ENST00000327443.4	37	c.2069G>A	CCDS8857.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.413387	0.83449	.	.	ENSG00000185591	ENST00000327443;ENST00000426431	T;T	0.12361	2.73;2.69	4.92	4.92	0.64577	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000005	T	0.30916	0.0780	L	0.45285	1.41	0.80722	D	1	D	0.63046	0.992	D	0.74348	0.983	T	0.01218	-1.1415	10	0.87932	D	0	.	17.4273	0.87529	0.0:0.0:1.0:0.0	.	697	P08047	SP1_HUMAN	K	697;690	ENSP00000329357:R697K;ENSP00000404263:R690K	ENSP00000329357:R697K	R	+	2	0	SP1	52091023	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.620000	0.98373	2.729000	0.93468	0.467000	0.42956	AGG		0.493	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407044.1			143	195	0	0	0	0.870114	0	143	195				
MAP4	4134	broad.mit.edu	37	3	47963256	47963256	+	Splice_Site	SNP	G	G	A			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr3:47963256G>A	ENST00000360240.6	-	5	1046	c.528C>T	c.(526-528)taC>taT	p.Y176Y	MAP4_ENST00000395734.3_Splice_Site_p.Y176Y|MAP4_ENST00000426837.2_Splice_Site_p.Y193Y|MAP4_ENST00000383737.4_Splice_Site_p.Y176Y	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	176					cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	AAGCCATACCGTAACTGTCTT	0.393																																						ENST00000426837.2																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32						c.e6+1		microtubule-associated protein 4							101.0	93.0	96.0					3																	47963256		2203	4300	6503	SO:0001630	splice_region_variant	4134				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr3:47963256G>A		CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.529+1C>T	3.37:g.47963256G>A						MAP4_ENST00000360240.6_Splice_Site_p.Y176_splice|MAP4_ENST00000383737.4_Splice_Site_p.Y176_splice|MAP4_ENST00000395734.3_Splice_Site_p.Y176_splice	p.Y193_splice			P27816	MAP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	6	666	-			176					Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Splice_Site	SNP	ENST00000360240.6	37	c.580_splice	CCDS33750.1																																																																																				0.393	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1	NM_002375	Silent	4	165	0	0	0	0.150653	0	4	165				
ZNF713	349075	broad.mit.edu	37	7	56007656	56007656	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr7:56007656G>T	ENST00000429591.2	+	4	1288	c.1250G>T	c.(1249-1251)tGt>tTt	p.C417F	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	417					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C417F(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GAATATAAATGTGAGCAAACT	0.388																																						ENST00000429591.2																			1	Substitution - Missense(1)	p.C417F(1)	prostate(1)	breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(1249-1251)tGt>tTt		zinc finger protein 713							48.0	49.0	49.0					7																	56007656		2203	4300	6503	SO:0001583	missense	349075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:56007656G>T	AK097282	CCDS34639.1	7p11.2	2013-01-08			ENSG00000178665	ENSG00000178665		"""Zinc fingers, C2H2-type"", ""-"""	22043	protein-coding gene	gene with protein product							Standard	NM_182633		Approved	FLJ39963	uc003trc.1	Q8N859	OTTHUMG00000156175	ENST00000429591.2:c.1250G>T	7.37:g.56007656G>T	ENSP00000416662:p.Cys417Phe					MRPS17_ENST00000426595.1_Intron	p.C417F	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		4	1288	+	Breast(14;0.214)		417						Missense_Mutation	SNP	ENST00000429591.2	37	c.1250G>T	CCDS34639.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.880599	0.33255	.	.	ENSG00000178665	ENST00000429591	T	0.08370	3.1	3.54	2.66	0.31614	.	0.169954	0.28718	N	0.014378	T	0.16300	0.0392	M	0.63843	1.955	0.39006	D	0.959457	D	0.63880	0.993	P	0.53912	0.737	T	0.02444	-1.1158	10	0.87932	D	0	.	9.2391	0.37484	0.1104:0.0:0.8896:0.0	.	417	Q8N859	ZN713_HUMAN	F	417	ENSP00000416662:C417F	ENSP00000416662:C417F	C	+	2	0	ZNF713	55975150	1.000000	0.71417	0.990000	0.47175	0.242000	0.25591	3.769000	0.55303	1.078000	0.41014	0.467000	0.42956	TGT		0.388	ZNF713-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343297.1	NM_182633		105	86	1	0	1.09637e-55	0.870114	1.34182e-55	105	86				
FES	2242	broad.mit.edu	37	15	91428783	91428783	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr15:91428783C>A	ENST00000328850.3	+	3	497	c.355C>A	c.(355-357)Cag>Aag	p.Q119K	FES_ENST00000394300.3_Intron|FES_ENST00000414248.2_Intron|FES_ENST00000394302.1_Intron|FES_ENST00000450438.2_Intron|FES_ENST00000444422.2_Missense_Mutation_p.Q119K	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	119	Important for interaction with membranes containing phosphoinositides.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)	p.Q119K(2)		lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CTACAGCGAGCAGTGGCAGCA	0.597																																						ENST00000328850.3																			2	Substitution - Missense(2)	p.Q119K(2)	prostate(2)	lung(2)|ovary(1)	3						c.(355-357)Cag>Aag		feline sarcoma oncogene							20.0	24.0	23.0					15																	91428783		2193	4295	6488	SO:0001583	missense	2242				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:91428783C>A	X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"""SH2 domain containing"""	3657	protein-coding gene	gene with protein product	"""Oncogene FES, feline sarcoma virus"", ""c-fes/fps protein"""	190030	"""feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog"", ""feline sarcoma oncogene"""			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.355C>A	15.37:g.91428783C>A	ENSP00000331504:p.Gln119Lys					FES_ENST00000394300.3_Intron|FES_ENST00000414248.2_Intron|FES_ENST00000394302.1_Intron|FES_ENST00000450438.2_Intron|FES_ENST00000444422.2_Missense_Mutation_p.Q119K	p.Q119K	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	Lung(145;0.229)		3	497	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		119			Important for interaction with membranes containing phosphoinositides.		B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Missense_Mutation	SNP	ENST00000328850.3	37	c.355C>A	CCDS10365.1	.	.	.	.	.	.	.	.	.	.	C	34	5.402859	0.96030	.	.	ENSG00000182511	ENST00000328850;ENST00000452243;ENST00000444422	T;T;T	0.14144	2.53;2.53;2.53	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.34308	0.0893	L	0.55481	1.735	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.997	D;D;D	0.78314	0.98;0.991;0.98	T	0.00915	-1.1516	10	0.40728	T	0.16	-43.3538	18.7804	0.91930	0.0:1.0:0.0:0.0	.	101;119;119	B4DUD9;P07332-4;P07332	.;.;FES_HUMAN	K	119	ENSP00000331504:Q119K;ENSP00000392696:Q119K;ENSP00000400868:Q119K	ENSP00000331504:Q119K	Q	+	1	0	FES	89229787	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.457000	0.60088	2.543000	0.85770	0.650000	0.86243	CAG		0.597	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313497.1	NM_002005		12	17	1	0	1.05317e-09	0.457914	1.21634e-09	12	17				
TPPP2	122664	broad.mit.edu	37	14	21498804	21498804	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr14:21498804G>A	ENST00000321760.6	+	2	212	c.64G>A	c.(64-66)Ggc>Agc	p.G22S	AL161668.5_ENST00000533984.1_lincRNA|NDRG2_ENST00000403829.3_Intron|TPPP2_ENST00000460647.2_Missense_Mutation_p.G22S|RP11-998D10.1_ENST00000531638.1_5'Flank|TPPP2_ENST00000530140.2_Missense_Mutation_p.G22S	NM_173846.4	NP_776245.2	P59282	TPPP2_HUMAN	tubulin polymerization-promoting protein family member 2	22						cytoplasm (GO:0005737)		p.G22S(1)		endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		ATCAAGCAGTGGCACTGAAAT	0.517																																						ENST00000321760.6																			1	Substitution - Missense(1)	p.G22S(1)	prostate(1)	endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(64-66)Ggc>Agc		tubulin polymerization-promoting protein family member 2							102.0	71.0	82.0					14																	21498804		2203	4300	6503	SO:0001583	missense	122664					cytoplasm		g.chr14:21498804G>A	AY072034	CCDS9566.1	14q11.2	2014-01-21	2007-05-02	2007-05-02	ENSG00000179636	ENSG00000179636			19293	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 8"""	C14orf8		15590652, 17105200	Standard	NM_173846		Approved	p25beta, p18, CT152	uc001vzh.3	P59282	OTTHUMG00000029642	ENST00000321760.6:c.64G>A	14.37:g.21498804G>A	ENSP00000317595:p.Gly22Ser					TPPP2_ENST00000530140.2_Missense_Mutation_p.G22S|TPPP2_ENST00000460647.2_Missense_Mutation_p.G22S|NDRG2_ENST00000403829.3_Intron	p.G22S	NM_173846.4	NP_776245.2	P59282	TPPP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)	2	212	+	all_cancers(95;0.000759)		22					Q2VYF3	Missense_Mutation	SNP	ENST00000321760.6	37	c.64G>A	CCDS9566.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021622	0.75275	.	.	ENSG00000179636	ENST00000321760;ENST00000460647;ENST00000530140;ENST00000472458;ENST00000481535	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.37	2.5	0.30297	.	0.229978	0.44902	N	0.000409	T	0.43211	0.1237	M	0.70903	2.155	0.44447	D	0.997379	B	0.11235	0.004	B	0.30716	0.119	T	0.28235	-1.0050	10	0.40728	T	0.16	-10.2012	9.2632	0.37625	0.2428:0.0:0.7572:0.0	.	22	P59282	TPPP2_HUMAN	S	22;22;22;22;17	ENSP00000317595:G22S;ENSP00000427504:G22S;ENSP00000435356:G22S;ENSP00000423171:G22S;ENSP00000421438:G17S	ENSP00000317595:G22S	G	+	1	0	TPPP2	20568644	1.000000	0.71417	0.002000	0.10522	0.965000	0.64279	5.709000	0.68384	0.314000	0.23086	0.655000	0.94253	GGC		0.517	TPPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073914.3	NM_173846		28	36	0	0	0	0.693898	0	28	36				
CHD1	1105	broad.mit.edu	37	5	98192340	98192340	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr5:98192340C>G	ENST00000284049.3	-	35	5026	c.4877G>C	c.(4876-4878)aGa>aCa	p.R1626T		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1626					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)	p.R1626T(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	AGAATGAGATCTATCTTTTAA	0.383																																						ENST00000284049.3																			1	Substitution - Missense(1)	p.R1626T(1)	prostate(1)	NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49						c.(4876-4878)aGa>aCa		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						113.0	108.0	110.0					5																	98192340		2203	4300	6503	SO:0001583	missense	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98192340C>G	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.4877G>C	5.37:g.98192340C>G	ENSP00000284049:p.Arg1626Thr						p.R1626T	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	35	5026	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	1626					Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	37	c.4877G>C	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.265142	0.40095	.	.	ENSG00000153922	ENST00000422663;ENST00000284049	D	0.91180	-2.8	5.55	5.55	0.83447	.	0.000000	0.33875	U	0.004469	D	0.89083	0.6614	L	0.52573	1.65	0.53688	D	0.999979	B	0.16603	0.018	B	0.14578	0.011	D	0.84767	0.0765	10	0.52906	T	0.07	.	19.5027	0.95103	0.0:1.0:0.0:0.0	.	1626	O14646	CHD1_HUMAN	T	216;1626	ENSP00000284049:R1626T	ENSP00000284049:R1626T	R	-	2	0	CHD1	98220240	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.038000	0.64177	2.601000	0.87937	0.655000	0.94253	AGA		0.383	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		71	18	0	0	0	0.870114	0	71	18				
ERCC2	2068	broad.mit.edu	37	19	45858059	45858059	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr19:45858059G>A	ENST00000391945.4	-	17	1671	c.1594C>T	c.(1594-1596)Cct>Tct	p.P532S	ERCC2_ENST00000391944.3_Missense_Mutation_p.P454S	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	532	Mediates interaction with MMS19.				7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.P532S(1)		large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		ATGCCATCAGGGACCACAGCG	0.627			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000391945.4			yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	"""Mis, N, F, S"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"""			E		"""skin basal cell, skin squamous cell, melanoma"""			1	Substitution - Missense(1)	p.P532S(1)	prostate(1)	large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9						c.(1594-1596)Cct>Tct	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 2							180.0	148.0	159.0					19																	45858059		2203	4300	6503	SO:0001583	missense	2068	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	g.chr19:45858059G>A		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"""General transcription factor IIH complex subunits"""	3434	protein-coding gene	gene with protein product	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 protein"", ""TFIIH basal transcription factor complex helicase XPB subunit"""	126340	"""xeroderma pigmentosum complementary group D"", ""excision repair cross-complementing rodent repair deficiency, complementation group 2"""	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.1594C>T	19.37:g.45858059G>A	ENSP00000375809:p.Pro532Ser					ERCC2_ENST00000391944.3_Missense_Mutation_p.P454S	p.P532S	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	17	1671	-		Ovarian(192;0.0728)|all_neural(266;0.112)	532			Mediates interaction with MMS19.		Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	ENST00000391945.4	37	c.1594C>T	CCDS33049.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.994580	0.93167	.	.	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944	T;T	0.71579	-0.58;-0.58	5.35	5.35	0.76521	.	0.053597	0.85682	N	0.000000	D	0.88908	0.6565	H	0.95437	3.67	0.80722	D	1	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.97110	0.986;0.964;1.0	D	0.92044	0.5643	10	0.87932	D	0	-17.4231	16.553	0.84477	0.0:0.0:1.0:0.0	.	454;532;225	E7EVE9;P18074;Q6ZNQ5	.;ERCC2_HUMAN;.	S	482;508;532;454	ENSP00000375809:P532S;ENSP00000375808:P454S	ENSP00000375805:P482S	P	-	1	0	ERCC2	50549899	1.000000	0.71417	0.997000	0.53966	0.968000	0.65278	8.932000	0.92897	2.507000	0.84556	0.561000	0.74099	CCT		0.627	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2	NM_000400		67	145	0	0	0	0.870114	0	67	145				
NCKAP1L	3071	broad.mit.edu	37	12	54903701	54903701	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr12:54903701C>T	ENST00000293373.6	+	7	746	c.667C>T	c.(667-669)Cgc>Tgc	p.R223C	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R173C|NCKAP1L_ENST00000552211.1_3'UTR	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	223					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)	p.R223C(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TGAGCAGTGGCGCAGTGCCCA	0.517																																						ENST00000293373.6																			1	Substitution - Missense(1)	p.R223C(1)	prostate(1)	NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						c.(667-669)Cgc>Tgc		NCK-associated protein 1-like							154.0	151.0	152.0					12																	54903701		2203	4300	6503	SO:0001583	missense	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54903701C>T	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.667C>T	12.37:g.54903701C>T	ENSP00000293373:p.Arg223Cys					NCKAP1L_ENST00000552211.1_3'UTR|NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R173C	p.R223C	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN			7	746	+			223					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.667C>T	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155505	0.78114	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.57752	0.38;0.38	5.83	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.72285	0.3441	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76162	-0.3060	10	0.87932	D	0	-12.4271	11.8672	0.52501	0.3176:0.6824:0.0:0.0	.	223	P55160	NCKPL_HUMAN	C	223;173	ENSP00000293373:R223C;ENSP00000445596:R173C	ENSP00000293373:R223C	R	+	1	0	NCKAP1L	53189968	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.769000	0.38522	1.434000	0.47414	0.563000	0.77884	CGC		0.517	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		10	266	0	0	0	0.335167	0	10	266				
ABCB5	340273	broad.mit.edu	37	7	20778650	20778650	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr7:20778650C>T	ENST00000404938.2	+	24	3564	c.2912C>T	c.(2911-2913)aCg>aTg	p.T971M	ABCB5_ENST00000258738.6_Missense_Mutation_p.T526M	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	971	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)	p.T526M(1)|p.T971M(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						ATCGGAGAAACGCTCGTTTTG	0.418																																						ENST00000404938.2																			2	Substitution - Missense(2)	p.T526M(1)|p.T971M(1)	prostate(2)	breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						c.(2911-2913)aCg>aTg		ATP-binding cassette, sub-family B (MDR/TAP), member 5							66.0	63.0	64.0					7																	20778650		2203	4300	6503	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20778650C>T	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.2912C>T	7.37:g.20778650C>T	ENSP00000384881:p.Thr971Met					ABCB5_ENST00000258738.6_Missense_Mutation_p.T526M	p.T971M	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN			24	3564	+			526					A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.2912C>T	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.425294	0.62733	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	T;T	0.79940	-1.32;-1.32	4.99	4.99	0.66335	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	0.324780	0.25978	N	0.027094	D	0.86012	0.5831	M	0.67953	2.075	0.48901	D	0.999725	D;D	0.63880	0.993;0.986	P;P	0.56514	0.8;0.765	D	0.86677	0.1914	10	0.56958	D	0.05	.	16.1633	0.81734	0.0:1.0:0.0:0.0	.	971;526	A7BKA4;Q2M3G0	.;ABCB5_HUMAN	M	971;526	ENSP00000384881:T971M;ENSP00000258738:T526M	ENSP00000258738:T526M	T	+	2	0	ABCB5	20745175	0.996000	0.38824	1.000000	0.80357	0.276000	0.26787	5.624000	0.67764	2.774000	0.95407	0.484000	0.47621	ACG		0.418	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		27	111	0	0	0	0.740014	0	27	111				
KCND2	3751	broad.mit.edu	37	7	120385960	120385960	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr7:120385960C>T	ENST00000331113.4	+	5	2559	c.1594C>T	c.(1594-1596)Cga>Tga	p.R532*	RP4-797C5.2_ENST00000450480.1_RNA	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	532					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CTGCTGTTCACGACGACACAA	0.443																																						ENST00000331113.4																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75						c.(1594-1596)Cga>Tga		potassium voltage-gated channel, Shal-related subfamily, member 2							151.0	125.0	134.0					7																	120385960		2203	4300	6503	SO:0001587	stop_gained	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:120385960C>T	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.1594C>T	7.37:g.120385960C>T	ENSP00000333496:p.Arg532*						p.R532*	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN			5	2559	+	all_neural(327;0.117)		532					O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Nonsense_Mutation	SNP	ENST00000331113.4	37	c.1594C>T	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361287	0.82353	.	.	ENSG00000184408	ENST00000331113	.	.	.	6.06	1.55	0.23275	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8432	0.85973	0.4646:0.5354:0.0:0.0	.	.	.	.	X	532	.	.	R	+	1	2	KCND2	120173196	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	1.985000	0.40668	0.374000	0.24650	0.655000	0.94253	CGA		0.443	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		4	141	0	0	0	0.184627	0	4	141				
ALK	238	broad.mit.edu	37	2	29450529	29450529	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr2:29450529G>A	ENST00000389048.3	-	17	3731	c.2825C>T	c.(2824-2826)gCa>gTa	p.A942V	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	942					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	GTTTGAGGCTGCATTGCCGCC	0.527			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000389048.3			yes	Dom	yes	Familial neuroblastoma	2	2p23	238	"""T, Mis, A"""	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	neuroblastoma	"""ALCL, NSCLC, Neuroblastoma"""	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	0				NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340						c.(2824-2826)gCa>gTa		anaplastic lymphoma receptor tyrosine kinase	Adenosine triphosphate(DB00171)						156.0	144.0	148.0					2																	29450529		2203	4300	6503	SO:0001583	missense	238	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29450529G>A	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.2825C>T	2.37:g.29450529G>A	ENSP00000373700:p.Ala942Val					ALK_ENST00000431873.1_Intron	p.A942V	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN			17	3731	-	Acute lymphoblastic leukemia(172;0.155)		942					Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.2825C>T	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.039826	0.93630	.	.	ENSG00000171094	ENST00000389048	T	0.53206	0.63	4.86	4.86	0.63082	.	0.000000	0.45867	U	0.000338	T	0.64864	0.2637	L	0.53561	1.675	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.63879	-0.6537	9	.	.	.	.	17.9844	0.89152	0.0:0.0:1.0:0.0	.	942	Q9UM73	ALK_HUMAN	V	942	ENSP00000373700:A942V	.	A	-	2	0	ALK	29304033	1.000000	0.71417	0.986000	0.45419	0.873000	0.50193	9.515000	0.98015	2.231000	0.72958	0.561000	0.74099	GCA		0.527	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		4	179	0	0	0	0.184627	0	4	179				
PPP2R2C	5522	broad.mit.edu	37	4	6377648	6377648	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr4:6377648G>C	ENST00000382599.4	-	4	561	c.345C>G	c.(343-345)atC>atG	p.I115M	PPP2R2C_ENST00000335585.5_Missense_Mutation_p.I115M|PPP2R2C_ENST00000314348.8_5'UTR|PPP2R2C_ENST00000515571.1_Missense_Mutation_p.I98M|PPP2R2C_ENST00000507294.1_Missense_Mutation_p.I108M|PPP2R2C_ENST00000506140.1_Missense_Mutation_p.I108M			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	115					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.I115M(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						TCCATAATTTGATAGTTTTAT	0.413																																						ENST00000335585.5																			1	Substitution - Missense(1)	p.I115M(1)	prostate(1)	central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						c.(343-345)atC>atG		protein phosphatase 2, regulatory subunit B, gamma							91.0	94.0	93.0					4																	6377648		2203	4300	6503	SO:0001583	missense	5522				signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	g.chr4:6377648G>C	AF086924	CCDS3388.1, CCDS56304.1, CCDS56305.1, CCDS3387.1	4p16.1	2013-01-10	2010-04-14		ENSG00000074211	ENSG00000074211	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9306	protein-coding gene	gene with protein product	"""PP2A subunit B isoform gamma"""	605997	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform"""			10574460, 10945473	Standard	NM_020416		Approved	PR52, IMYPNO, MGC33570, PR55G	uc003gja.3	Q9Y2T4	OTTHUMG00000090445	ENST00000382599.4:c.345C>G	4.37:g.6377648G>C	ENSP00000372042:p.Ile115Met					PPP2R2C_ENST00000506140.1_Missense_Mutation_p.I108M|PPP2R2C_ENST00000507294.1_Missense_Mutation_p.I108M|PPP2R2C_ENST00000515571.1_Missense_Mutation_p.I98M|PPP2R2C_ENST00000382599.4_Missense_Mutation_p.I115M|PPP2R2C_ENST00000314348.8_5'UTR	p.I115M	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN			4	368	-			115					A8MSY7|B7Z3Y1|Q7Z4V7|Q8NEC4|Q9H3G7	Missense_Mutation	SNP	ENST00000382599.4	37	c.345C>G		.	.	.	.	.	.	.	.	.	.	G	16.22	3.060283	0.55432	.	.	ENSG00000074211	ENST00000335585;ENST00000506140;ENST00000515571;ENST00000382599;ENST00000507294	T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08	4.32	1.44	0.22558	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.53465	0.1798	M	0.77486	2.375	0.58432	D	0.999996	D;D;D;D;P	0.57257	0.964;0.963;0.979;0.964;0.931	P;P;P;P;P	0.59546	0.787;0.859;0.787;0.787;0.754	T	0.51293	-0.8724	10	0.87932	D	0	-56.3154	4.5585	0.12149	0.1665:0.0:0.5244:0.309	.	108;211;115;98;115	B7Z3Y1;Q59GC6;Q9Y2T4;Q9Y2T4-3;Q9Y2T4-2	.;.;2ABG_HUMAN;.;.	M	115;108;98;115;108	ENSP00000335083:I115M;ENSP00000423649:I108M;ENSP00000422374:I98M;ENSP00000372042:I115M;ENSP00000425247:I108M	ENSP00000335083:I115M	I	-	3	3	PPP2R2C	6428549	1.000000	0.71417	0.977000	0.42913	0.996000	0.88848	0.531000	0.23052	0.132000	0.18615	0.561000	0.74099	ATC		0.413	PPP2R2C-001	NOVEL	overlapping_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206889.2	NM_181876		10	234	0	0	0	0.335167	0	10	234				
SNX33	257364	broad.mit.edu	37	15	75941857	75941857	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr15:75941857C>A	ENST00000308527.5	+	1	1611	c.414C>A	c.(412-414)aaC>aaA	p.N138K	IMP3_ENST00000314852.2_5'Flank|IMP3_ENST00000565349.1_5'Flank	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	138					cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|macropinocytosis (GO:0044351)|membrane tubulation (GO:0097320)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|negative regulation of endocytosis (GO:0045806)|negative regulation of protein localization to cell surface (GO:2000009)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein localization to cell surface (GO:2000010)|protein import (GO:0017038)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						TGGGCACCAACGGGCACCCTC	0.642																																						ENST00000308527.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						c.(412-414)aaC>aaA		sorting nexin 33							63.0	63.0	63.0					15																	75941857		2197	4293	6490	SO:0001583	missense	257364				cell communication		phosphatidylinositol binding|protein binding	g.chr15:75941857C>A	AK091291	CCDS10283.1	15q23	2008-04-18	2008-03-25	2008-03-25	ENSG00000173548	ENSG00000173548			28468	protein-coding gene	gene with protein product			"""SH3 and PX domain containing 3"""	SH3PX3		16374509, 16782399, 18353773	Standard	NM_153271		Approved	MGC32065, SH3PXD3C, SNX30	uc002bau.3	Q8WV41	OTTHUMG00000142835	ENST00000308527.5:c.414C>A	15.37:g.75941857C>A	ENSP00000311427:p.Asn138Lys						p.N138K	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN			1	1611	+			138					B1NM17	Missense_Mutation	SNP	ENST00000308527.5	37	c.414C>A	CCDS10283.1	.	.	.	.	.	.	.	.	.	.	C	8.580	0.882196	0.17467	.	.	ENSG00000173548	ENST00000308527	T	0.62364	0.03	4.83	-9.66	0.00534	.	0.164834	0.52532	D	0.000070	T	0.32285	0.0824	N	0.08118	0	0.39315	D	0.965146	B	0.30326	0.276	B	0.29524	0.103	T	0.37753	-0.9692	10	0.07813	T	0.8	-14.6033	19.2738	0.94021	0.0:0.2995:0.0:0.7005	.	138	Q8WV41	SNX33_HUMAN	K	138	ENSP00000311427:N138K	ENSP00000311427:N138K	N	+	3	2	SNX33	73728912	0.000000	0.05858	0.138000	0.22173	0.837000	0.47467	-2.999000	0.00653	-3.000000	0.00276	-1.847000	0.00572	AAC		0.642	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286471.1	NM_153271		4	121	1	0	0.150653	0.150653	0.156374	4	121				
CACNG2	10369	broad.mit.edu	37	22	36960764	36960764	+	Silent	SNP	G	G	A			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr22:36960764G>A	ENST00000300105.6	-	4	1587	c.606C>T	c.(604-606)atC>atT	p.I202I	RP5-1119A7.17_ENST00000562756.1_RNA	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	202					membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|neuromuscular junction development (GO:0007528)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.I202I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						TGTGCCGGTCGATAAACATGT	0.622																																						ENST00000300105.6																			1	Substitution - coding silent(1)	p.I202I(1)	prostate(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(604-606)atC>atT		calcium channel, voltage-dependent, gamma subunit 2							102.0	118.0	113.0					22																	36960764		2203	4300	6503	SO:0001819	synonymous_variant	10369				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr22:36960764G>A	AF096322	CCDS13931.1	22q13.1	2006-08-01			ENSG00000166862	ENSG00000166862		"""Calcium channel subunits"""	1406	protein-coding gene	gene with protein product		602911					Standard	NM_006078		Approved	stargazin, MGC138502, MGC138504	uc003aps.2	Q9Y698	OTTHUMG00000030612	ENST00000300105.6:c.606C>T	22.37:g.36960764G>A							p.I202I	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN			4	1587	-			202					Q2M1M1|Q5TGT3|Q9UGZ7	Silent	SNP	ENST00000300105.6	37	c.606C>T	CCDS13931.1																																																																																				0.622	CACNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075500.2			142	194	0	0	0	0.870114	0	142	194				
CCNG1	900	broad.mit.edu	37	5	162868107	162868107	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr5:162868107T>A	ENST00000340828.2	+	3	512	c.288T>A	c.(286-288)tgT>tgA	p.C96*	CCNG1_ENST00000504553.1_5'Flank|AC112205.1_ENST00000599797.1_Intron|CCNG1_ENST00000510664.1_Intron|CCNG1_ENST00000512163.1_5'UTR|CCNG1_ENST00000511683.2_5'UTR|CCNG1_ENST00000393929.1_Nonsense_Mutation_p.C96*	NM_004060.3	NP_004051.1	P51959	CCNG1_HUMAN	cyclin G1	96					brain development (GO:0007420)|cell growth (GO:0016049)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to organonitrogen compound (GO:0010243)|syncytium formation (GO:0006949)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.C96*(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)		ACCTTGGGTGTGTTGGACTGA	0.368																																						ENST00000340828.2																			1	Substitution - Nonsense(1)	p.C96*(1)	prostate(1)	autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12						c.(286-288)tgT>tgA		cyclin G1							92.0	90.0	91.0					5																	162868107		2203	4300	6503	SO:0001587	stop_gained	900				cell division|mitosis|regulation of cyclin-dependent protein kinase activity	nucleus		g.chr5:162868107T>A	D78341	CCDS4360.1	5q32-q34	2010-11-15			ENSG00000113328	ENSG00000113328			1592	protein-coding gene	gene with protein product		601578		CCNG		8954786, 8806701	Standard	NM_004060		Approved		uc003lzb.3	P51959	OTTHUMG00000130380	ENST00000340828.2:c.288T>A	5.37:g.162868107T>A	ENSP00000344635:p.Cys96*					CCNG1_ENST00000511683.2_5'UTR|CCNG1_ENST00000512163.1_5'UTR|CCNG1_ENST00000393929.1_Nonsense_Mutation_p.C96*|CCNG1_ENST00000510664.1_Intron|AC112205.1_ENST00000599797.1_Intron	p.C96*	NM_004060.3	NP_004051.1	P51959	CCNG1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)	3	512	+	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	96					B2R7B2|B4DLW7|D3DQK7|Q15757|Q96L32	Nonsense_Mutation	SNP	ENST00000340828.2	37	c.288T>A	CCDS4360.1	.	.	.	.	.	.	.	.	.	.	T	37	6.349866	0.97494	.	.	ENSG00000113328	ENST00000393929;ENST00000340828;ENST00000510097;ENST00000511490	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.4337	11.1145	0.48252	0.0:0.0745:0.0:0.9255	.	.	.	.	X	96	.	ENSP00000344635:C96X	C	+	3	2	CCNG1	162800685	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.864000	0.56024	1.979000	0.57680	0.533000	0.62120	TGT		0.368	CCNG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252750.3	NM_004060		60	82	0	0	0	0.870114	0	60	82				
DHRS13	147015	broad.mit.edu	37	17	27229944	27229944	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr17:27229944C>T	ENST00000378895.4	-	1	145	c.19G>A	c.(19-21)Ggc>Agc	p.G7S	DHRS13_ENST00000426464.2_Missense_Mutation_p.G7S|DHRS13_ENST00000394901.3_5'UTR	NM_144683.3	NP_653284.2	Q6UX07	DHR13_HUMAN	dehydrogenase/reductase (SDR family) member 13	7						extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)	p.G7S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			AACCCCGCGCCCAGCAGCAGC	0.756																																						ENST00000378895.4																			1	Substitution - Missense(1)	p.G7S(1)	prostate(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9						c.(19-21)Ggc>Agc		dehydrogenase/reductase (SDR family) member 13							6.0	8.0	8.0					17																	27229944		1801	3922	5723	SO:0001583	missense	147015					extracellular region	binding|oxidoreductase activity	g.chr17:27229944C>T	BC015582	CCDS11246.2	17q11.2	2011-09-14			ENSG00000167536	ENSG00000167536	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	28326	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 5"""					12975309, 19027726	Standard	NM_144683		Approved	MGC23280, SDR7C5	uc002hde.4	Q6UX07	OTTHUMG00000132678	ENST00000378895.4:c.19G>A	17.37:g.27229944C>T	ENSP00000368173:p.Gly7Ser					DHRS13_ENST00000426464.2_Missense_Mutation_p.G7S|DHRS13_ENST00000394901.3_5'UTR	p.G7S	NM_144683.3	NP_653284.2	Q6UX07	DHR13_HUMAN	Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)		1	145	-	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		7					Q96BH7	Missense_Mutation	SNP	ENST00000378895.4	37	c.19G>A	CCDS11246.2	.	.	.	.	.	.	.	.	.	.	c	16.14	3.038605	0.55003	.	.	ENSG00000167536	ENST00000378895;ENST00000426464	T;D	0.82344	-1.38;-1.6	4.65	2.64	0.31445	.	2.055150	0.01746	N	0.029659	T	0.68851	0.3046	N	0.08118	0	0.22719	N	0.998814	B;B	0.24721	0.11;0.067	B;B	0.23419	0.046;0.033	T	0.58002	-0.7713	10	0.11794	T	0.64	.	9.1255	0.36812	0.0:0.8179:0.0:0.1821	.	7;7	B4DJC5;Q6UX07	.;DHR13_HUMAN	S	7	ENSP00000368173:G7S;ENSP00000412826:G7S	ENSP00000368173:G7S	G	-	1	0	DHRS13	24254070	0.999000	0.42202	1.000000	0.80357	0.893000	0.52053	2.206000	0.42779	0.585000	0.29608	0.486000	0.48141	GGC		0.756	DHRS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255952.1	NM_144683		5	12	0	0	0	0.217242	0	5	12				
CDCP2	200008	broad.mit.edu	37	1	54605390	54605390	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr1:54605390C>T	ENST00000371330.1	-	4	2000	c.1153G>A	c.(1153-1155)Gaa>Aaa	p.E385K	CDCP2_ENST00000530059.1_Intron|RP11-446E24.4_ENST00000525949.1_5'Flank	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	385						extracellular region (GO:0005576)		p.E385K(1)		kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						GCCTCCCCTTCGCCCTCAGTG	0.612																																						ENST00000371330.1																			1	Substitution - Missense(1)	p.E385K(1)	prostate(1)	kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						c.(1153-1155)Gaa>Aaa		CUB domain containing protein 2							47.0	50.0	49.0					1																	54605390		2203	4300	6503	SO:0001583	missense	200008					extracellular region		g.chr1:54605390C>T		CCDS588.2	1p32.3	2011-02-10			ENSG00000157211	ENSG00000157211			27297	protein-coding gene	gene with protein product		612320				12477932	Standard	NM_201546		Approved		uc001cwv.2	Q5VXM1	OTTHUMG00000155307	ENST00000371330.1:c.1153G>A	1.37:g.54605390C>T	ENSP00000360381:p.Glu385Lys					CDCP2_ENST00000530059.1_Intron	p.E385K	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN			4	2000	-			385					Q6ZWJ3	Missense_Mutation	SNP	ENST00000371330.1	37	c.1153G>A	CCDS588.2	.	.	.	.	.	.	.	.	.	.	c	10.72	1.429895	0.25726	.	.	ENSG00000157211	ENST00000371330	T	0.27104	1.69	3.89	-4.11	0.03928	.	2.498820	0.01886	N	0.038206	T	0.15089	0.0364	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15983	-1.0418	10	0.29301	T	0.29	3.0328	5.6397	0.17557	0.1533:0.2496:0.0:0.5971	.	385	Q5VXM1	CDCP2_HUMAN	K	385	ENSP00000360381:E385K	ENSP00000360381:E385K	E	-	1	0	CDCP2	54377978	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.147000	0.10234	-0.835000	0.04234	-2.592000	0.00164	GAA		0.612	CDCP2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000022209.2	NM_201546		40	38	0	0	0	0.827153	0	40	38				
OR10H3	26532	broad.mit.edu	37	19	15852413	15852413	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr19:15852413G>A	ENST00000305892.1	+	1	211	c.211G>A	c.(211-213)Gag>Aag	p.E71K		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	71						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E71K(1)		cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CTCCATCTCTGAGATTCTGTT	0.498																																						ENST00000305892.1																			1	Substitution - Missense(1)	p.E71K(1)	prostate(1)	cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(211-213)Gag>Aag		olfactory receptor, family 10, subfamily H, member 3							471.0	412.0	432.0					19																	15852413		2203	4300	6503	SO:0001583	missense	26532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15852413G>A		CCDS12334.1	19p13.1	2012-08-09				ENSG00000171936		"""GPCR / Class A : Olfactory receptors"""	8174	protein-coding gene	gene with protein product							Standard	NM_013938		Approved		uc010xoq.2	O60404		ENST00000305892.1:c.211G>A	19.37:g.15852413G>A	ENSP00000307130:p.Glu71Lys						p.E71K	NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN			1	211	+			71					Q2HIZ3|Q6IFQ0	Missense_Mutation	SNP	ENST00000305892.1	37	c.211G>A	CCDS12334.1	.	.	.	.	.	.	.	.	.	.	.	18.98	3.736997	0.69304	.	.	ENSG00000171936	ENST00000305892	T	0.38240	1.15	2.35	2.35	0.29111	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41001	U	0.000965	T	0.56992	0.2023	M	0.90309	3.105	0.26133	N	0.980381	P	0.45044	0.849	P	0.54401	0.751	T	0.54022	-0.8355	10	0.87932	D	0	.	10.3508	0.43934	0.0:0.0:1.0:0.0	.	71	O60404	O10H3_HUMAN	K	71	ENSP00000307130:E71K	ENSP00000307130:E71K	E	+	1	0	OR10H3	15713413	1.000000	0.71417	0.862000	0.33874	0.603000	0.37013	8.410000	0.90225	1.320000	0.45209	0.185000	0.17295	GAG		0.498	OR10H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460918.1			21	764	0	0	0	0.575678	0	21	764				
SARDH	1757	broad.mit.edu	37	9	136573417	136573417	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr9:136573417G>T	ENST00000371872.4	-	11	1719	c.1462C>A	c.(1462-1464)Ctg>Atg	p.L488M	SARDH_ENST00000422262.2_Missense_Mutation_p.L320M|SARDH_ENST00000439388.1_Missense_Mutation_p.L488M	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	488					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)	p.L488M(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		ACCTCGTGCAGCGGGTCTCTC	0.632																																						ENST00000371872.4																			1	Substitution - Missense(1)	p.L488M(1)	prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44						c.(1462-1464)Ctg>Atg		sarcosine dehydrogenase							74.0	67.0	70.0					9																	136573417		2203	4300	6503	SO:0001583	missense	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136573417G>T		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.1462C>A	9.37:g.136573417G>T	ENSP00000360938:p.Leu488Met					SARDH_ENST00000439388.1_Missense_Mutation_p.L488M|SARDH_ENST00000422262.2_Missense_Mutation_p.L320M	p.L488M	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	11	1719	-			488					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	ENST00000371872.4	37	c.1462C>A	CCDS6978.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166225	0.57476	.	.	ENSG00000123453	ENST00000371872;ENST00000439388;ENST00000422262;ENST00000427237	D;D;D	0.86432	-2.12;-2.12;-2.12	5.16	5.16	0.70880	.	0.227351	0.39544	N	0.001338	D	0.93517	0.7931	M	0.90309	3.105	0.80722	D	1	D	0.56746	0.977	D	0.64687	0.928	D	0.93793	0.7094	10	0.51188	T	0.08	-21.2086	12.0548	0.53529	0.0796:0.0:0.9204:0.0	.	488	Q9UL12	SARDH_HUMAN	M	488;488;320;488	ENSP00000360938:L488M;ENSP00000403084:L488M;ENSP00000415537:L320M	ENSP00000360938:L488M	L	-	1	2	SARDH	135563238	1.000000	0.71417	0.993000	0.49108	0.347000	0.29111	7.262000	0.78410	2.382000	0.81193	0.563000	0.77884	CTG		0.632	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			12	76	1	0	3.07112e-06	0.387290	3.49766e-06	12	76				
PRTG	283659	broad.mit.edu	37	15	55964737	55964737	+	Silent	SNP	C	C	T			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr15:55964737C>T	ENST00000389286.4	-	11	1994	c.1947G>A	c.(1945-1947)caG>caA	p.Q649Q		NM_173814.4	NP_776175.2			protogenin									p.Q649Q(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GCTTGTAGCCCTGAATAGCAG	0.498																																						ENST00000389286.4																			1	Substitution - coding silent(1)	p.Q649Q(1)	prostate(1)	breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.(1945-1947)caG>caA		protogenin							116.0	115.0	115.0					15																	55964737		1948	4124	6072	SO:0001819	synonymous_variant	283659				multicellular organismal development	integral to membrane		g.chr15:55964737C>T	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.1947G>A	15.37:g.55964737C>T							p.Q649Q	NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	11	1994	-			649			Fibronectin type-III 3.			Silent	SNP	ENST00000389286.4	37	c.1947G>A	CCDS42040.1																																																																																				0.498	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		45	79	0	0	0	0.859065	0	45	79				
GPATCH4	54865	broad.mit.edu	37	1	156565503	156565504	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr1:156565503_156565504insT	ENST00000438976.2	-	8	659_660	c.629_630insA	c.(628-630)aagfs	p.K210fs	GPATCH4_ENST00000368232.4_Frame_Shift_Ins_p.K205fs|GPATCH4_ENST00000497287.1_5'UTR			Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	205							poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTTTCTTTTTCTTTTTTTTGGG	0.535																																						ENST00000368232.4																			0				autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17						c.(613-615)aaafs		G patch domain containing 4																																				SO:0001589	frameshift_variant	54865					intracellular	nucleic acid binding	g.chr1:156565503_156565504insT	BC056904	CCDS1146.1, CCDS44245.1	1q22	2013-01-28		2006-12-13	ENSG00000160818	ENSG00000160818		"""G patch domain containing"""	25982	protein-coding gene	gene with protein product				GPATC4		12477932	Standard	NM_015590		Approved	FLJ20249, DKFZP434F1735	uc001fpl.3	Q5T3I0	OTTHUMG00000033203	ENST00000438976.2:c.630dupA	1.37:g.156565511_156565511dupT	ENSP00000396441:p.Lys210fs					GPATCH4_ENST00000438976.2_Frame_Shift_Ins_p.K210fs|GPATCH4_ENST00000497287.1_5'UTR	p.K205fs	NM_015590.3|NM_182679.2	NP_056405.2|NP_872620.1	Q5T3I0	GPTC4_HUMAN			8	746_747	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		205					Q5T3I1|Q6ZUE7|Q8IWG8|Q9NXH4	Frame_Shift_Ins	INS	ENST00000438976.2	37	c.614_615insA	CCDS44245.1																																																																																				0.535	GPATCH4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386947.1	NM_017725		7	320						7	320	---	---	---	---
MAPKAPK3	7867	broad.mit.edu	37	3	50655021	50655042	+	Frame_Shift_Del	DEL	CAGGGGGGCCCTGTGCCCCCGC	CAGGGGGGCCCTGTGCCCCCGC	-	rs149349769|rs147044454|rs372994175		TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr3:50655021_50655042delCAGGGGGGCCCTGTGCCCCCGC	ENST00000446044.1	+	4	621_642	c.25_46delCAGGGGGGCCCTGTGCCCCCGC	c.(25-48)caggggggccctgtgcccccgccafs	p.QGGPVPPP9fs	MAPKAPK3_ENST00000357955.2_Frame_Shift_Del_p.QGGPVPPP9fs	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	9					activation of MAPK activity (GO:0000187)|innate immune response (GO:0045087)|macropinocytosis (GO:0044351)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|Ras protein signal transduction (GO:0007265)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		AGCAGAGGAGCAGGGGGGCCCTGTGCCCCCGCCAGTTGCACC	0.698																																						ENST00000446044.1																			0				central_nervous_system(1)|ovary(1)	2						c.(25-48)cafs		mitogen-activated protein kinase-activated protein kinase 3																																				SO:0001589	frameshift_variant	7867				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity	g.chr3:50655021_50655042delCAGGGGGGCCCTGTGCCCCCGC	U43784	CCDS2832.1	3p21.3	2004-03-10			ENSG00000114738	ENSG00000114738			6888	protein-coding gene	gene with protein product		602130				8626550, 8622688	Standard	NM_004635		Approved	3pK, MAPKAP3, 3PK	uc003dba.2	Q16644	OTTHUMG00000156850	ENST00000446044.1:c.25_46delCAGGGGGGCCCTGTGCCCCCGC	3.37:g.50655021_50655042delCAGGGGGGCCCTGTGCCCCCGC	ENSP00000396467:p.Gln9fs					MAPKAPK3_ENST00000357955.2_Frame_Shift_Del_p.QGGPVPPP9fs	p.QGGPVPPP9fs	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)	4	621_642	+			9					B5BU67	Frame_Shift_Del	DEL	ENST00000446044.1	37	c.25_46delCAGGGGGGCCCTGTGCCCCCGC	CCDS2832.1																																																																																				0.698	MAPKAPK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346237.1	NM_004635		9	68						9	68	---	---	---	---
TMEM165	55858	broad.mit.edu	37	4	56262481	56262481	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr4:56262481delG	ENST00000381334.5	+	1	358	c.125delG	c.(124-126)cggfs	p.R42fs	TMEM165_ENST00000542052.1_5'UTR|SRD5A3-AS1_ENST00000599135.1_RNA|TMEM165_ENST00000506198.1_Frame_Shift_Del_p.R42fs|SRD5A3-AS1_ENST00000592823.1_RNA|SRD5A3-AS1_ENST00000598819.1_RNA|SRD5A3-AS1_ENST00000601433.1_RNA	NM_018475.4	NP_060945.2	Q9HC07	TM165_HUMAN	transmembrane protein 165	42					cellular calcium ion homeostasis (GO:0006874)|Golgi calcium ion transport (GO:0032472)|protein N-linked glycosylation (GO:0006487)|regulation of lysosomal lumen pH (GO:0035751)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				endometrium(1)|kidney(1)|large_intestine(2)	4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			CTTAGCCACCGGAACAAAGAA	0.741																																						ENST00000381334.5																			0				endometrium(1)|kidney(1)|large_intestine(2)	4						c.(124-126)cgfs		transmembrane protein 165							2.0	3.0	3.0					4																	56262481		1489	3392	4881	SO:0001589	frameshift_variant	55858					integral to membrane		g.chr4:56262481delG	AF183409	CCDS3499.1	4q12	2014-03-13			ENSG00000134851	ENSG00000134851			30760	protein-coding gene	gene with protein product	"""TPA regulated locus"""	614726				3202867, 22683087, 23575229	Standard	NM_018475		Approved	TMPT27, TPARL, GDT1	uc003hax.3	Q9HC07	OTTHUMG00000128735	ENST00000381334.5:c.125delG	4.37:g.56262481delG	ENSP00000370736:p.Arg42fs					TMEM165_ENST00000542052.1_5'UTR|TMEM165_ENST00000506198.1_Frame_Shift_Del_p.R42fs	p.R42fs	NM_018475.3	NP_060945.2	Q9HC07	TM165_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)		1	358	+	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		42					A8K3P8|B4DHW1|Q9BTN9|Q9NZ34	Frame_Shift_Del	DEL	ENST00000381334.5	37	c.125delG	CCDS3499.1																																																																																				0.741	TMEM165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250646.4	NM_018475		3	5						3	5	---	---	---	---
ICA1	3382	broad.mit.edu	37	7	8196560	8196578	+	Intron	DEL	AAAAAAAAAAAAAAAAAAA	AAAAAAAAAAAAAAAAAAA	-	rs544087808|rs147272214|rs73674888|rs73674889|rs556173262|rs398003586|rs67144473|rs67144474|rs139248933|rs77253977|rs201360539|rs575652075|rs200840693|rs80159917|rs71014766|rs138383936	byFrequency	TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr7:8196560_8196578delAAAAAAAAAAAAAAAAAAA	ENST00000402384.3	-	8	1071				ICA1_ENST00000396675.3_Intron|ICA1_ENST00000406470.2_Intron|ICA1_ENST00000407906.1_Frame_Shift_Del_p.FFFFFFF324fs|AC007009.2_ENST00000577980.1_RNA|ICA1_ENST00000422063.2_Intron|ICA1_ENST00000265577.7_Intron|ICA1_ENST00000401396.1_Intron			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa						neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		CTGATGCAGTaaaaaaaaaaaaaaaaaaaaaaaaagaaa	0.37																																						ENST00000407906.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23						c.(970-990)ttfs		islet cell autoantigen 1, 69kDa																																				SO:0001627	intron_variant	3382				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane		g.chr7:8196560_8196578delAAAAAAAAAAAAAAAAAAA		CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"""islet cell autoantigen 1 (69kD)"""			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.804+167TTTTTTTTTTTTTTTTTTT>-	7.37:g.8196560_8196578delAAAAAAAAAAAAAAAAAAA						ICA1_ENST00000402384.3_Intron|ICA1_ENST00000401396.1_Intron|ICA1_ENST00000265577.7_Intron|ICA1_ENST00000422063.2_Intron|ICA1_ENST00000396675.3_Intron|ICA1_ENST00000406470.2_Intron	p.FFFFFFF324fs			Q05084	ICA69_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)	8	1223_1241	-		Ovarian(82;0.0612)	0					A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Frame_Shift_Del	DEL	ENST00000402384.3	37	c.972_990delTTTTTTTTTTTTTTTTTTT	CCDS34602.1																																																																																				0.370	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324793.1	NM_004968		6	12						6	12	---	---	---	---
GS1-124K5.2	0	broad.mit.edu	37	7	65888170	65888170	+	RNA	DEL	A	A	-	rs398047695|rs58186454		TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr7:65888170delA	ENST00000442578.1	-	0	826																											TATTCAGAGCAAAAAAAAAAA	0.343																																						ENST00000442578.1																			0																																																			0							g.chr7:65888170delA																													7.37:g.65888170delA														0	826	-									RNA	DEL	ENST00000442578.1	37																																																																																						0.343	GS1-124K5.2-001	KNOWN	basic|readthrough_transcript	processed_transcript	pseudogene	OTTHUMT00000344730.1			2	4						2	4	---	---	---	---
LURAP1L	286343	broad.mit.edu	37	9	12775861	12775862	+	In_Frame_Ins	INS	-	-	GGCGGCGGC	rs3833707|rs139315731		TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr9:12775861_12775862insGGCGGCGGC	ENST00000319264.3	+	1	842_843	c.147_148insGGCGGCGGC	c.(148-150)ggc>GGCGGCGGCggc	p.50_50G>GGGG	LURAP1L_ENST00000489107.1_3'UTR|RP11-3L8.3_ENST00000417638.1_RNA	NM_203403.1	NP_981948.1	Q8IV03	LUR1L_HUMAN	leucine rich adaptor protein 1-like	53	Gly-rich.							p.G49_G50insGGG(2)|p.G50_G52delGGG(1)									gcggtggtggtggcggcggcgg	0.688																																						ENST00000319264.3																			3	Insertion - In frame(2)|Deletion - In frame(1)	p.G49_G50insGGG(2)|p.G50_G52delGGG(1)	large_intestine(1)|prostate(1)|central_nervous_system(1)								c.(145-150)gggcgg>ggGGCGGCGGCgcgg		leucine rich adaptor protein 1-like																																				SO:0001652	inframe_insertion	286343							g.chr9:12775861_12775862insGGCGGCGGC	AK095824	CCDS6473.1	9p22.3	2012-02-01	2012-02-01	2012-02-01	ENSG00000153714	ENSG00000153714			31452	protein-coding gene	gene with protein product	"""similar to DNA segment, Chr 4, Brigham & Womens Genetics 0951 expressed"""		"""chromosome 9 open reading frame 150"""	C9orf150		12766061	Standard	NM_203403		Approved	MGC46502, FLJ38505, bA3L8.2	uc003zkw.3	Q8IV03	OTTHUMG00000019557	ENST00000319264.3:c.157_165dupGGCGGCGGC	9.37:g.12775862_12775870dupGGCGGCGGC	ENSP00000321026:p.GlyGlyGly53dup					RP11-3L8.3_ENST00000417638.1_RNA|LURAP1L_ENST00000489107.1_3'UTR	p.49_50GR>GAAAR	NM_203403.1	NP_981948.1	Q8IV03	CI150_HUMAN			1	842_843	+			49		Missing.	Gly-rich.		Q5VZX7|Q8N923|Q8NCG2	In_Frame_Ins	INS	ENST00000319264.3	37	c.147_148insGGCGGCGGC	CCDS6473.1																																																																																				0.688	LURAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051730.1	NM_203403		5	6						5	6	---	---	---	---
PCSK5	5125	broad.mit.edu	37	9	78790207	78790208	+	Intron	INS	-	-	GAATA	rs55947300|rs10124596|rs71372053	byFrequency	TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr9:78790207_78790208insGAATA	ENST00000545128.1	+	14	2438				PCSK5_ENST00000376767.3_Frame_Shift_Ins_p.-689fs|PCSK5_ENST00000376752.4_Intron	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5						anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						cgaatcgaatcgaatagaatag	0.342																																						ENST00000376767.3																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(2062-2064)aatfs		proprotein convertase subtilisin/kexin type 5																																				SO:0001627	intron_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78790207_78790208insGAATA		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1900+162->GAATA	9.37:g.78790213_78790217dupGAATA						PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000545128.1_Intron	p.N688fs			Q92824	PCSK5_HUMAN			14	2574_2575	+			0			CRM (Cys-rich motif).		F5H2G7|Q13527|Q96EP4	Frame_Shift_Ins	INS	ENST00000545128.1	37	c.2062_2063insGAATA	CCDS55320.1																																																																																				0.342	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				6	4						6	4	---	---	---	---
MIR381HG	378881	broad.mit.edu	37	14	101514904	101514905	+	lincRNA	DEL	GT	GT	-			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr14:101514904_101514905delGT	ENST00000553692.1	+	0	28				MIR381_ENST00000362150.1_RNA|MIR487B_ENST00000385021.1_RNA|MIR655_ENST00000362159.2_RNA|MIR544A_ENST00000384855.1_RNA|MIR539_ENST00000365690.2_RNA|MIR889_ENST00000401280.1_RNA	NR_104192.1				MIR381 host gene (non-protein coding)																		CACCTCTGGGgtgtgtgtgtgt	0.47																																						ENST00000553692.1																			0																																																			0							g.chr14:101514904_101514905delGT	AA861571		14q32.31	2013-07-30	2010-01-22	2010-01-22	ENSG00000258861	ENSG00000258861		"""Long non-coding RNAs"""	20136	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 225"""		"""chromosome 14 open reading frame 89"""	C14orf89			Standard	NR_104192		Approved	NCRNA00225			OTTHUMG00000171633		14.37:g.101514914_101514915delGT														0	28	+									RNA	DEL	ENST00000553692.1	37																																																																																						0.470	MIR381HG-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000414538.1			3	4						3	4	---	---	---	---
