#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
PTBP3	9991	broad.mit.edu	37	9	115013271	115013271	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr9:115013271C>A	ENST00000374255.2	-	8	971	c.824G>T	c.(823-825)cGc>cTc	p.R275L	PTBP3_ENST00000374257.1_Missense_Mutation_p.R247L|PTBP3_ENST00000334318.6_Missense_Mutation_p.R278L|PTBP3_ENST00000343327.2_Missense_Mutation_p.R180L|RNA5SP295_ENST00000362655.1_RNA|PTBP3_ENST00000458258.1_Missense_Mutation_p.R281L			O95758	PTBP3_HUMAN	polypyrimidine tract binding protein 3	275					anatomical structure morphogenesis (GO:0009653)|erythrocyte maturation (GO:0043249)|mRNA processing (GO:0006397)|negative regulation of RNA splicing (GO:0033119)|regulation of cell differentiation (GO:0045595)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										AAGGTCTAAGCGAGTGAAGTC	0.443																																						ENST00000334318.6																			0											c.(832-834)cGc>cTc		polypyrimidine tract binding protein 3							188.0	193.0	191.0					9																	115013271		2203	4300	6503	SO:0001583	missense	9991				anatomical structure morphogenesis|mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr9:115013271C>A	AB023967	CCDS6784.1, CCDS55332.1, CCDS55333.1, CCDS59140.1, CCDS59141.1	9q32	2013-07-16	2011-11-16	2011-11-16	ENSG00000119314	ENSG00000119314		"""RNA binding motif (RRM) containing"""	10253	protein-coding gene	gene with protein product		607527	"""regulator of differentiation (in S. pombe) 1"", ""ROD1 regulator of differentiation 1 (S. pombe)"""	ROD1		10207106	Standard	NM_005156		Approved	DKFZp781I1117	uc004bfx.3	O95758	OTTHUMG00000020503	ENST00000374255.2:c.824G>T	9.37:g.115013271C>A	ENSP00000363373:p.Arg275Leu					PTBP3_ENST00000458258.1_Missense_Mutation_p.R281L|PTBP3_ENST00000343327.2_Missense_Mutation_p.R180L|PTBP3_ENST00000374255.2_Missense_Mutation_p.R275L|PTBP3_ENST00000374257.1_Missense_Mutation_p.R247L	p.R278L	NM_001163790.2|NM_005156.6	NP_001157262.1|NP_005147.3	O95758	ROD1_HUMAN			8	1019	-			275					B1ALY2|B1ALY3|B1ALY5|B1ALY6|B3KME7|Q68DB9|Q86YB3|Q86YH9	Missense_Mutation	SNP	ENST00000374255.2	37	c.833G>T	CCDS6784.1	.	.	.	.	.	.	.	.	.	.	C	33	5.287897	0.95517	.	.	ENSG00000119314	ENST00000374257;ENST00000334318;ENST00000458258;ENST00000374255;ENST00000343327	T;T;T;T;T	0.56776	0.46;0.45;0.44;0.44;1.46	5.55	5.55	0.83447	Nucleotide-binding, alpha-beta plait (1);	0.054135	0.85682	D	0.000000	T	0.65811	0.2727	L	0.39326	1.205	0.80722	D	1	P;D;P;B;P;B	0.67145	0.631;0.996;0.915;0.083;0.782;0.1	B;D;P;B;B;B	0.70487	0.436;0.969;0.705;0.268;0.356;0.195	T	0.62058	-0.6934	10	0.42905	T	0.14	-3.1487	19.7069	0.96076	0.0:1.0:0.0:0.0	.	247;247;180;278;275;281	B1ALY5;O95758-2;B1ALY6;O95758-5;O95758;O95758-4	.;.;.;.;ROD1_HUMAN;.	L	247;278;281;275;180	ENSP00000363375:R247L;ENSP00000334499:R278L;ENSP00000414921:R281L;ENSP00000363373:R275L;ENSP00000340705:R180L	ENSP00000334499:R278L	R	-	2	0	ROD1	114053092	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.894000	0.99253	0.591000	0.81541	CGC		0.443	PTBP3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053679.1			62	103	1	0	2.2129e-31	1	2.80472e-31	62	103				
TSPEAR	54084	broad.mit.edu	37	21	45948375	45948375	+	Silent	SNP	C	C	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr21:45948375C>T	ENST00000323084.4	-	6	947	c.882G>A	c.(880-882)ctG>ctA	p.L294L	TSPEAR_ENST00000397916.1_Silent_p.L226L	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	294					sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CACACAGATACAGGCCCTTCC	0.617																																						ENST00000323084.4																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						c.(880-882)ctG>ctA		thrombospondin-type laminin G domain and EAR repeats							159.0	140.0	146.0					21																	45948375		2203	4300	6503	SO:0001819	synonymous_variant	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45948375C>T	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.882G>A	21.37:g.45948375C>T						TSPEAR_ENST00000397916.1_Silent_p.L226L	p.L294L	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN			6	947	-			294						Silent	SNP	ENST00000323084.4	37	c.882G>A	CCDS13712.1																																																																																				0.617	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991		22	39	0	0	0	1	0	22	39				
FOXF2	2295	broad.mit.edu	37	6	1390682	1390682	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr6:1390682G>T	ENST00000259806.1	+	1	614	c.500G>T	c.(499-501)cGg>cTg	p.R167L		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	167					embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity of embryonic epithelium (GO:0042249)|extracellular matrix organization (GO:0030198)|genitalia development (GO:0048806)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		GGCCTCGGGCGGCCCGGCAAG	0.667																																						ENST00000259806.1																			0				large_intestine(2)|lung(5)|prostate(1)	8						c.(499-501)cGg>cTg		forkhead box F2							46.0	56.0	53.0					6																	1390682		2202	4300	6502	SO:0001583	missense	2295				epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr6:1390682G>T	U13220	CCDS4472.1	6p25.3	2008-04-10			ENSG00000137273	ENSG00000137273		"""Forkhead boxes"""	3810	protein-coding gene	gene with protein product		603250		FKHL6		9799607, 7957066	Standard	NM_001452		Approved	FREAC2	uc003mtm.3	Q12947	OTTHUMG00000016243	ENST00000259806.1:c.500G>T	6.37:g.1390682G>T	ENSP00000259806:p.Arg167Leu						p.R167L	NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.095)	1	614	+	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)	167					Q5TGJ1|Q9UQ85	Missense_Mutation	SNP	ENST00000259806.1	37	c.500G>T	CCDS4472.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.026215	0.93518	.	.	ENSG00000137273	ENST00000259806	D	0.95554	-3.74	4.53	4.53	0.55603	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.64402	D	0.000001	D	0.96784	0.8950	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.97492	1.0054	10	0.72032	D	0.01	.	16.0109	0.80402	0.0:0.0:1.0:0.0	.	167	Q12947	FOXF2_HUMAN	L	167	ENSP00000259806:R167L	ENSP00000259806:R167L	R	+	2	0	FOXF2	1335681	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.324000	0.79115	2.106000	0.64143	0.536000	0.68110	CGG		0.667	FOXF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043558.1			10	122	1	0	0.000442599	1	0.000455126	10	122				
PLA2G7	7941	broad.mit.edu	37	6	46677139	46677139	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr6:46677139T>C	ENST00000274793.7	-	9	990	c.794A>G	c.(793-795)gAa>gGa	p.E265G	PLA2G7_ENST00000537365.1_Missense_Mutation_p.E265G	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	265					cellular protein metabolic process (GO:0044267)|lipid catabolic process (GO:0016042)|lipid oxidation (GO:0034440)|low-density lipoprotein particle remodeling (GO:0034374)|plasma lipoprotein particle oxidation (GO:0034441)|positive regulation of inflammatory response (GO:0050729)|positive regulation of monocyte chemotaxis (GO:0090026)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|low-density lipoprotein particle (GO:0034362)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			TGCTATTTTTTCCCTATCAAT	0.303																																						ENST00000274793.7																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14						c.(793-795)gAa>gGa		phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)							83.0	84.0	84.0					6																	46677139		2203	4294	6497	SO:0001583	missense	7941				inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	g.chr6:46677139T>C	U20157	CCDS4917.1	6p21.2-p12	2008-09-19			ENSG00000146070	ENSG00000146070	3.1.1.4		9040	protein-coding gene	gene with protein product		601690				7700381, 8624782	Standard	NM_005084		Approved	PAFAH, LDL-PLA2	uc021zae.1	Q13093	OTTHUMG00000014789	ENST00000274793.7:c.794A>G	6.37:g.46677139T>C	ENSP00000274793:p.Glu265Gly					PLA2G7_ENST00000537365.1_Missense_Mutation_p.E265G	p.E265G	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	Lung(136;0.192)		9	990	-			265					A5HTT5|Q15692|Q5VTT1|Q8IVA2	Missense_Mutation	SNP	ENST00000274793.7	37	c.794A>G	CCDS4917.1	.	.	.	.	.	.	.	.	.	.	T	5.066	0.197811	0.09652	.	.	ENSG00000146070	ENST00000274793;ENST00000537365	T;T	0.42900	0.96;0.96	6.03	2.38	0.29361	.	0.752485	0.14223	N	0.333300	T	0.08582	0.0213	N	0.19112	0.55	0.09310	N	0.999999	B;B	0.16603	0.018;0.018	B;B	0.18263	0.021;0.021	T	0.37150	-0.9718	10	0.16896	T	0.51	.	5.9996	0.19513	0.0:0.2002:0.1381:0.6617	.	265;265	A8K2W6;Q13093	.;PAFA_HUMAN	G	265	ENSP00000274793:E265G;ENSP00000445666:E265G	ENSP00000274793:E265G	E	-	2	0	PLA2G7	46785098	0.526000	0.26298	0.019000	0.16419	0.004000	0.04260	1.398000	0.34554	0.511000	0.28236	0.533000	0.62120	GAA		0.303	PLA2G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040802.1			34	88	0	0	0	1	0	34	88				
SLC18A3	6572	broad.mit.edu	37	10	50820313	50820313	+	Silent	SNP	C	C	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr10:50820313C>T	ENST00000374115.3	+	1	1967	c.1527C>T	c.(1525-1527)ggC>ggT	p.G509G	CHAT_ENST00000339797.1_Intron|CHAT_ENST00000455728.2_5'Flank|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000351556.3_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	509					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GCCAGGACGGCGAGCCTCGCA	0.652																																						ENST00000374115.3																			0				endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						c.(1525-1527)ggC>ggT		solute carrier family 18 (vesicular acetylcholine transporter), member 3							51.0	59.0	56.0					10																	50820313		2202	4296	6498	SO:0001819	synonymous_variant	6572				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	g.chr10:50820313C>T	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.1527C>T	10.37:g.50820313C>T						CHAT_ENST00000339797.1_Intron	p.G509G	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN			1	1967	+			509					B2R7S1	Silent	SNP	ENST00000374115.3	37	c.1527C>T	CCDS7231.1																																																																																				0.652	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055		21	65	0	0	0	1	0	21	65				
SCN3A	6328	broad.mit.edu	37	2	165953013	165953013	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr2:165953013C>T	ENST00000360093.3	-	24	4748	c.4257G>A	c.(4255-4257)tgG>tgA	p.W1419*	SCN3A_ENST00000409101.3_Nonsense_Mutation_p.W1370*|SCN3A_ENST00000540861.1_5'Flank|SCN3A_ENST00000283254.7_Nonsense_Mutation_p.W1419*|SCN3A_ENST00000465043.1_5'Flank	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1419					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TAATATCCATCCAGCCTTTAA	0.294																																						ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(4255-4257)tgG>tgA		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						86.0	88.0	87.0					2																	165953013		2202	4289	6491	SO:0001587	stop_gained	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165953013C>T	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.4257G>A	2.37:g.165953013C>T	ENSP00000353206:p.Trp1419*					SCN3A_ENST00000409101.3_Nonsense_Mutation_p.W1370*|SCN3A_ENST00000283254.7_Nonsense_Mutation_p.W1419*	p.W1419*	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			24	4748	-			1419					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Nonsense_Mutation	SNP	ENST00000360093.3	37	c.4257G>A		.	.	.	.	.	.	.	.	.	.	C	47	13.732270	0.99760	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7342	0.69404	0.0:0.9279:0.0:0.0721	.	.	.	.	X	1419;1419;1370	.	ENSP00000283254:W1419X	W	-	3	0	SCN3A	165661259	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.315000	0.51951	2.681000	0.91329	0.561000	0.74099	TGG		0.294	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		14	42	0	0	0	1	0	14	42				
SIM2	6493	broad.mit.edu	37	21	38117419	38117419	+	Silent	SNP	C	C	T	rs199788000	byFrequency	TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr21:38117419C>T	ENST00000290399.6	+	10	2171	c.1558C>T	c.(1558-1560)Ctg>Ttg	p.L520L	SIM2_ENST00000430056.3_Silent_p.L520L	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	520	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						TAGGCACAGCCTGGTGCCAAG	0.627													C|||	2	0.000399361	0.0	0.0	5008	,	,		20633	0.002		0.0	False		,,,				2504	0.0					ENST00000290399.6																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						c.(1558-1560)Ctg>Ttg		single-minded family bHLH transcription factor 2							26.0	24.0	25.0					21																	38117419		2203	4300	6503	SO:0001819	synonymous_variant	6493				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:38117419C>T		CCDS13646.1	21q22.2	2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263		"""Basic helix-loop-helix proteins"""	10883	protein-coding gene	gene with protein product	"""transcription factor SIM2"""	600892	"""single-minded (Drosophila) homolog 2"", ""single-minded homolog 2 (Drosophila)"""	SIM		7485157	Standard	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	Q14190	OTTHUMG00000086637	ENST00000290399.6:c.1558C>T	21.37:g.38117419C>T						SIM2_ENST00000430056.3_Silent_p.L520L	p.L520L	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN			10	2171	+			520			Single-minded C-terminal.		O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Silent	SNP	ENST00000290399.6	37	c.1558C>T	CCDS13646.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	0.051	-1.250808	0.01469	.	.	ENSG00000159263	ENST00000431229;ENST00000481730	.	.	.	4.74	3.84	0.44239	.	.	.	.	.	T	0.58595	0.2133	.	.	.	0.44619	D	0.997592	.	.	.	.	.	.	T	0.55386	-0.8149	4	.	.	.	.	9.1858	0.37170	0.0:0.8355:0.0:0.1645	.	.	.	.	L	457;116	.	.	P	+	2	0	SIM2	37039289	0.878000	0.30173	0.045000	0.18777	0.107000	0.19398	2.357000	0.44125	2.337000	0.79520	0.558000	0.71614	CCT		0.627	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194692.1	NM_009586		4	5	0	0	0	1	0	4	5				
BCL2L12	83596	broad.mit.edu	37	19	50176978	50176978	+	Silent	SNP	C	C	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr19:50176978C>T	ENST00000246785.3	+	7	1236	c.978C>T	c.(976-978)ccC>ccT	p.P326P	BCL2L12_ENST00000594793.1_3'UTR|PRMT1_ENST00000532489.1_5'Flank|BCL2L12_ENST00000441864.2_Silent_p.P325P|BCL2L12_ENST00000246784.3_3'UTR	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	326					inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		CTGTTTCACCCGTGGACTTGA	0.557																																						ENST00000246785.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8						c.(976-978)ccC>ccT		BCL2-like 12 (proline rich)							141.0	117.0	125.0					19																	50176978		2203	4300	6503	SO:0001819	synonymous_variant	83596				apoptosis			g.chr19:50176978C>T	AF289220	CCDS12776.1, CCDS46144.1, CCDS74424.1, CCDS74423.1	19q13.3	2014-03-07				ENSG00000126453			13787	protein-coding gene	gene with protein product		610837					Standard	NM_001040668		Approved		uc002ppa.3	Q9HB09		ENST00000246785.3:c.978C>T	19.37:g.50176978C>T						BCL2L12_ENST00000246784.3_3'UTR|BCL2L12_ENST00000594793.1_3'UTR|BCL2L12_ENST00000441864.2_Silent_p.P325P	p.P326P	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)	7	1236	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	326					Q3SY11|Q3SY13|Q96I96|Q9HB08	Silent	SNP	ENST00000246785.3	37	c.978C>T	CCDS12776.1																																																																																				0.557	BCL2L12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465770.1	NM_052842		10	57	0	0	0	1	0	10	57				
OR4K17	390436	broad.mit.edu	37	14	20586096	20586096	+	Silent	SNP	G	G	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr14:20586096G>T	ENST00000315543.4	+	1	531	c.531G>T	c.(529-531)gtG>gtT	p.V177V		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TGCTTGTAGTGACCTCATGGC	0.448																																						ENST00000315543.4																			0				kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21						c.(529-531)gtG>gtT		olfactory receptor, family 4, subfamily K, member 17							252.0	211.0	225.0					14																	20586096		2203	4300	6503	SO:0001819	synonymous_variant	390436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20586096G>T		CCDS32030.1	14q11.2	2013-09-23			ENSG00000176230	ENSG00000176230		"""GPCR / Class A : Olfactory receptors"""	15355	protein-coding gene	gene with protein product							Standard	NM_001004715		Approved		uc001vwo.1	Q8NGC6	OTTHUMG00000170783	ENST00000315543.4:c.531G>T	14.37:g.20586096G>T							p.V177V	NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	531	+	all_cancers(95;0.00108)		149					Q6IF12	Silent	SNP	ENST00000315543.4	37	c.531G>T	CCDS32030.1																																																																																				0.448	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410346.1			58	72	1	0	1.17673e-23	1	1.42515e-23	58	72				
RLIM	51132	broad.mit.edu	37	X	73811695	73811695	+	Silent	SNP	A	A	G	rs374955178		TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chrX:73811695A>G	ENST00000332687.6	-	4	1673	c.1455T>C	c.(1453-1455)agT>agC	p.S485S	RLIM_ENST00000349225.2_Silent_p.S485S	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	485	Ser-rich.				negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TAGTTTCTGAACTTTCACCAc	0.493																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1453-1455)agT>agC		ring finger protein, LIM domain interacting							35.0	32.0	33.0					X																	73811695		2203	4300	6503	SO:0001819	synonymous_variant	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811695A>G	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1455T>C	X.37:g.73811695A>G						RLIM_ENST00000349225.2_Silent_p.S485S	p.S485S	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	1673	-			485			Ser-rich.		B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	c.1455T>C	CCDS14427.1																																																																																				0.493	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		3	15	0	0	0	1	0	3	15				
ANKAR	150709	broad.mit.edu	37	2	190595232	190595232	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr2:190595232A>T	ENST00000520309.1	+	16	3293	c.3205A>T	c.(3205-3207)Aca>Tca	p.T1069S	ANKAR_ENST00000438402.2_Intron|ANKAR_ENST00000281412.6_Intron|ANKAR_ENST00000431575.2_Missense_Mutation_p.T998S|ANKAR_ENST00000313581.4_Missense_Mutation_p.T1069S	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1069						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TGTAGCCCATACAAGCAATCC	0.373																																						ENST00000520309.1																			0				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(3205-3207)Aca>Tca		ankyrin and armadillo repeat containing							108.0	99.0	102.0					2																	190595232		2203	4300	6503	SO:0001583	missense	150709					integral to membrane	binding	g.chr2:190595232A>T	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.3205A>T	2.37:g.190595232A>T	ENSP00000427882:p.Thr1069Ser					ANKAR_ENST00000438402.2_Intron|ANKAR_ENST00000431575.2_Missense_Mutation_p.T998S|ANKAR_ENST00000313581.4_Missense_Mutation_p.T1069S|ANKAR_ENST00000281412.6_Intron	p.T1069S	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		16	3293	+			1069					Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	c.3205A>T	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	A	16.91	3.251754	0.59212	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000431575;ENST00000374838	T;T;T	0.17054	2.3;2.3;2.3	4.05	4.05	0.47172	.	0.171696	0.35235	N	0.003345	T	0.14098	0.0341	L	0.43152	1.355	0.80722	D	1	B	0.20550	0.046	B	0.17979	0.02	T	0.06023	-1.0850	10	0.13853	T	0.58	-22.5467	12.3776	0.55289	1.0:0.0:0.0:0.0	.	145	E9PHS9	.	S	1069;1069;998;145	ENSP00000427882:T1069S;ENSP00000313513:T1069S;ENSP00000393043:T998S	ENSP00000313513:T1069S	T	+	1	0	ANKAR	190303477	1.000000	0.71417	0.995000	0.50966	0.890000	0.51754	5.415000	0.66411	1.832000	0.53329	0.358000	0.22013	ACA		0.373	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		4	22	0	0	0	1	0	4	22				
ACSM1	116285	broad.mit.edu	37	16	20682933	20682933	+	Silent	SNP	G	G	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr16:20682933G>A	ENST00000307493.4	-	4	739	c.672C>T	c.(670-672)ttC>ttT	p.F224F	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Silent_p.F224F	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	224					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CACTGGTGAAGAAGATGACCA	0.502																																						ENST00000307493.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						c.(670-672)ttC>ttT		acyl-CoA synthetase medium-chain family member 1							132.0	110.0	117.0					16																	20682933		2201	4300	6501	SO:0001819	synonymous_variant	116285				benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20682933G>A	AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"""Acyl-CoA synthetase family"""	18049	protein-coding gene	gene with protein product		614357	"""butyryl Coenzyme A synthetase 1"""	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.672C>T	16.37:g.20682933G>A						ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Silent_p.F224F	p.F224F	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN			4	739	-			224					Q08AH2|Q96A20	Silent	SNP	ENST00000307493.4	37	c.672C>T	CCDS10587.1																																																																																				0.502	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956		36	62	0	0	0	1	0	36	62				
KEL	3792	broad.mit.edu	37	7	142654951	142654951	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr7:142654951C>A	ENST00000355265.2	-	6	1109	c.635G>T	c.(634-636)gGa>gTa	p.G212V	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	212					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AGGATGAGGTCCTAGGTAGGC	0.517																																						ENST00000355265.2																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(634-636)gGa>gTa		Kell blood group, metallo-endopeptidase							140.0	116.0	124.0					7																	142654951		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142654951C>A	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.635G>T	7.37:g.142654951C>A	ENSP00000347409:p.Gly212Val					KEL_ENST00000479768.2_5'UTR	p.G212V	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN			6	1109	-	Melanoma(164;0.059)		212					B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.635G>T	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.734664	0.48939	.	.	ENSG00000197993	ENST00000355265;ENST00000467543	T;T	0.75050	-0.9;-0.9	5.81	-2.88	0.05682	Peptidase M13 (1);	2.343700	0.01864	N	0.036792	T	0.75451	0.3851	L	0.53249	1.67	0.22521	N	0.999028	P	0.46784	0.884	P	0.46629	0.522	T	0.68868	-0.5295	10	0.66056	D	0.02	-1.2704	11.5268	0.50584	0.0:0.4309:0.0:0.5691	.	212	P23276	KELL_HUMAN	V	212;193	ENSP00000347409:G212V;ENSP00000420011:G193V	ENSP00000347409:G212V	G	-	2	0	KEL	142365073	0.000000	0.05858	0.000000	0.03702	0.795000	0.44927	-1.373000	0.02568	-1.048000	0.03238	-0.140000	0.14226	GGA		0.517	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		16	47	1	0	1.5739e-10	1	1.78703e-10	16	47				
GPR101	83550	broad.mit.edu	37	X	136113733	136113733	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chrX:136113733C>T	ENST00000298110.1	-	1	100	c.101G>A	c.(100-102)cGc>cAc	p.R34H		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					CACGGTTGAGCGGATGATGCC	0.607																																						ENST00000298110.1																			0				autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42						c.(100-102)cGc>cAc		G protein-coupled receptor 101							97.0	72.0	80.0					X																	136113733		2203	4300	6503	SO:0001583	missense	83550					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:136113733C>T	AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"""GPCR / Class A : Orphans"""	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.101G>A	X.37:g.136113733C>T	ENSP00000298110:p.Arg34His						p.R34H	NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN			1	100	-	Acute lymphoblastic leukemia(192;0.000127)		34					Q5JSM8|Q8NG93	Missense_Mutation	SNP	ENST00000298110.1	37	c.101G>A	CCDS14662.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.801154	0.50315	.	.	ENSG00000165370	ENST00000298110	T	0.37058	1.22	5.09	5.09	0.68999	.	.	.	.	.	T	0.44201	0.1282	L	0.27053	0.805	0.29707	N	0.839708	D	0.76494	0.999	D	0.71184	0.972	T	0.35871	-0.9771	9	0.49607	T	0.09	-14.9789	10.2042	0.43103	0.1981:0.8019:0.0:0.0	.	34	Q96P66	GP101_HUMAN	H	34	ENSP00000298110:R34H	ENSP00000298110:R34H	R	-	2	0	GPR101	135941399	0.294000	0.24380	0.991000	0.47740	0.686000	0.39977	0.902000	0.28459	2.100000	0.63781	0.544000	0.68410	CGC		0.607	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1			50	20	0	0	0	1	0	50	20				
SLC27A6	28965	broad.mit.edu	37	5	128302064	128302064	+	Silent	SNP	C	C	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr5:128302064C>T	ENST00000262462.4	+	1	1244	c.234C>T	c.(232-234)gaC>gaT	p.D78D	SLC27A6_ENST00000395266.1_Silent_p.D78D|SLC27A6_ENST00000506176.1_Silent_p.D78D			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	78					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.D78D(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		ATGAGGGAGACATCTACACCT	0.478																																						ENST00000262462.4																			1	Substitution - coding silent(1)	p.D78D(1)	lung(1)	NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44						c.(232-234)gaC>gaT		solute carrier family 27 (fatty acid transporter), member 6							113.0	108.0	109.0					5																	128302064		2203	4300	6503	SO:0001819	synonymous_variant	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128302064C>T	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.234C>T	5.37:g.128302064C>T						SLC27A6_ENST00000395266.1_Silent_p.D78D|SLC27A6_ENST00000506176.1_Silent_p.D78D	p.D78D			Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	1	1244	+		all_cancers(142;0.0483)|Prostate(80;0.055)	78					Q6IAM5|Q7Z6E6|Q86YF6	Silent	SNP	ENST00000262462.4	37	c.234C>T	CCDS4145.1																																																																																				0.478	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		36	19	0	0	0	1	0	36	19				
CNTN1	1272	broad.mit.edu	37	12	41463813	41463813	+	Silent	SNP	C	C	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr12:41463813C>T	ENST00000551295.2	+	24	3150	c.3033C>T	c.(3031-3033)ggC>ggT	p.G1011G	CNTN1_ENST00000347616.1_Silent_p.G1011G|CNTN1_ENST00000348761.2_Silent_p.G1000G	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	1011					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CTGCCTTTGGCATCCTTGTCT	0.483																																						ENST00000551295.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90						c.(3031-3033)ggC>ggT		contactin 1							211.0	156.0	175.0					12																	41463813		2203	4300	6503	SO:0001819	synonymous_variant	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41463813C>T	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.3033C>T	12.37:g.41463813C>T						CNTN1_ENST00000347616.1_Silent_p.G1011G|CNTN1_ENST00000348761.2_Silent_p.G1000G	p.G1011G	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN			24	3150	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	1011					A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Silent	SNP	ENST00000551295.2	37	c.3033C>T	CCDS8737.1																																																																																				0.483	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		11	35	0	0	0	1	0	11	35				
DGKG	1608	broad.mit.edu	37	3	185978226	185978226	+	Splice_Site	SNP	A	A	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr3:185978226A>T	ENST00000265022.3	-	16	1964		c.e16+1		DGKG_ENST00000382164.4_Splice_Site|DGKG_ENST00000344484.4_Intron|DGKG_ENST00000544847.1_Splice_Site	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa						blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TGATCTCCATACCCTGGAGTA	0.408																																						ENST00000265022.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42						c.e16+1		diacylglycerol kinase, gamma 90kDa	Phosphatidylserine(DB00144)						84.0	85.0	84.0					3																	185978226		2203	4300	6503	SO:0001630	splice_region_variant	1608				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr3:185978226A>T	AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.1424+1T>A	3.37:g.185978226A>T						DGKG_ENST00000344484.4_Intron|DGKG_ENST00000544847.1_Splice_Site|DGKG_ENST00000382164.4_Splice_Site		NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	16	1964	-	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)							B2RAH4|Q2M1H4|Q5FWG1	Splice_Site	SNP	ENST00000265022.3	37		CCDS3274.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.315826	0.81469	.	.	ENSG00000058866	ENST00000265022;ENST00000382164;ENST00000544847;ENST00000538691	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.317	0.66457	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DGKG	187460920	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.976000	0.93442	2.219000	0.72066	0.533000	0.62120	.		0.408	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3		Intron	11	21	0	0	0	1	0	11	21				
DPYD	1806	broad.mit.edu	37	1	98157320	98157320	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr1:98157320C>T	ENST00000370192.3	-	7	815	c.715G>A	c.(715-717)Gat>Aat	p.D239N	DPYD_ENST00000423006.2_3'UTR|DPYD_ENST00000474241.1_5'UTR	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	239					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	TTCACTACATCATACGGCAGC	0.368																																						ENST00000370192.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83						c.(715-717)Gat>Aat		dihydropyrimidine dehydrogenase	Capecitabine(DB01101)|Enfuvirtide(DB00109)						95.0	96.0	96.0					1																	98157320		2203	4300	6503	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:98157320C>T	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.715G>A	1.37:g.98157320C>T	ENSP00000359211:p.Asp239Asn					DPYD_ENST00000423006.2_3'UTR|DPYD_ENST00000474241.1_5'UTR	p.D239N	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	7	815	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	239					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.715G>A	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.004891	0.74932	.	.	ENSG00000188641	ENST00000370192	D	0.94650	-3.48	5.03	4.11	0.48088	.	0.165203	0.52532	D	0.000075	D	0.89694	0.6789	L	0.31420	0.93	0.80722	D	1	B	0.30741	0.293	B	0.41946	0.371	D	0.89586	0.3824	10	0.66056	D	0.02	-12.6431	14.0982	0.65037	0.0:0.9259:0.0:0.0741	.	239	Q12882	DPYD_HUMAN	N	239	ENSP00000359211:D239N	ENSP00000359211:D239N	D	-	1	0	DPYD	97929908	1.000000	0.71417	0.992000	0.48379	0.979000	0.70002	4.589000	0.61006	1.239000	0.43787	0.460000	0.39030	GAT		0.368	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		14	51	0	0	0	1	0	14	51				
NCK2	8440	broad.mit.edu	37	2	106509549	106509549	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr2:106509549G>C	ENST00000233154.4	+	5	1502	c.1060G>C	c.(1060-1062)Gag>Cag	p.E354Q	NCK2_ENST00000451463.2_3'UTR|NCK2_ENST00000393349.2_Missense_Mutation_p.E354Q|NCK2_ENST00000522586.1_3'UTR	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	354	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|lamellipodium assembly (GO:0030032)|negative regulation of cell proliferation (GO:0008285)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of translation (GO:0006417)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|lung(3)|ovary(1)	5						CACCATGGACGAGCTGGTGGA	0.602																																						ENST00000233154.4																			0				endometrium(1)|lung(3)|ovary(1)	5						c.(1060-1062)Gag>Cag		NCK adaptor protein 2							71.0	65.0	67.0					2																	106509549		2203	4300	6503	SO:0001583	missense	8440				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity	g.chr2:106509549G>C	AF043119	CCDS33266.1	2q12	2013-02-14			ENSG00000071051	ENSG00000071051		"""SH2 domain containing"""	7665	protein-coding gene	gene with protein product		604930				9737977, 16752908	Standard	NM_001004720		Approved	NCKbeta	uc002tdi.3	O43639	OTTHUMG00000153116	ENST00000233154.4:c.1060G>C	2.37:g.106509549G>C	ENSP00000233154:p.Glu354Gln					NCK2_ENST00000522586.1_3'UTR|NCK2_ENST00000393349.2_Missense_Mutation_p.E354Q|NCK2_ENST00000451463.2_3'UTR	p.E354Q	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN			5	1502	+			354			SH2.		D3DVK1|Q9BWN9|Q9UIC3	Missense_Mutation	SNP	ENST00000233154.4	37	c.1060G>C	CCDS33266.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770000	0.69992	.	.	ENSG00000071051	ENST00000233154;ENST00000393349	T;T	0.66995	-0.24;-0.24	5.3	5.3	0.74995	SH2 motif (5);	0.000000	0.85682	D	0.000000	T	0.65873	0.2733	L	0.38649	1.16	0.80722	D	1	P	0.42692	0.787	P	0.49192	0.602	T	0.59069	-0.7523	10	0.11794	T	0.64	.	18.9498	0.92637	0.0:0.0:1.0:0.0	.	354	O43639	NCK2_HUMAN	Q	354	ENSP00000233154:E354Q;ENSP00000377018:E354Q	ENSP00000233154:E354Q	E	+	1	0	NCK2	105875981	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.444000	0.97578	2.491000	0.84063	0.561000	0.74099	GAG		0.602	NCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329634.1	NM_003581		11	39	0	0	0	1	0	11	39				
SCARA3	51435	broad.mit.edu	37	8	27516476	27516476	+	Silent	SNP	C	C	T	rs370326841		TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr8:27516476C>T	ENST00000301904.3	+	5	809	c.789C>T	c.(787-789)agC>agT	p.S263S	SCARA3_ENST00000337221.4_Silent_p.S263S	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	263					receptor-mediated endocytosis (GO:0006898)|response to oxidative stress (GO:0006979)|UV protection (GO:0009650)	collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		GGCTCTTCAGCGGCCTGCGCA	0.612																																						ENST00000301904.3																			0				breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9						c.(787-789)agC>agT		scavenger receptor class A, member 3		C	,	0,4406		0,0,2203	51.0	55.0	54.0		789,789	-2.3	0.8	8		54	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SCARA3	NM_016240.2,NM_182826.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	263/607,263/467	27516476	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51435				response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity	g.chr8:27516476C>T	AB007829	CCDS34870.1, CCDS34871.1	8p21	2010-03-24			ENSG00000168077	ENSG00000168077			19000	protein-coding gene	gene with protein product	"""macrophage scavenger receptor-like 1"""	602728				9747040, 9580669	Standard	NM_182826		Approved	CSR1, CSR, MSLR1, APC7, MSRL1	uc003xga.1	Q6AZY7	OTTHUMG00000163898	ENST00000301904.3:c.789C>T	8.37:g.27516476C>T						SCARA3_ENST00000337221.4_Silent_p.S263S	p.S263S	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)	5	809	+		Ovarian(32;2.61e-05)	263					Q9UM15|Q9UM16	Silent	SNP	ENST00000301904.3	37	c.789C>T	CCDS34871.1																																																																																				0.612	SCARA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376258.2	NM_016240		4	39	0	0	0	1	0	4	39				
CCT8L2	150160	broad.mit.edu	37	22	17072280	17072280	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr22:17072280A>T	ENST00000359963.3	-	1	1420	c.1161T>A	c.(1159-1161)agT>agA	p.S387R		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	387					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CCTGCTCTGCACTCCGCAGCC	0.562																																						ENST00000359963.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67						c.(1159-1161)agT>agA		chaperonin containing TCP1, subunit 8 (theta)-like 2							79.0	75.0	76.0					22																	17072280		2203	4300	6503	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17072280A>T	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.1161T>A	22.37:g.17072280A>T	ENSP00000353048:p.Ser387Arg						p.S387R	NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN			1	1420	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	387					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.1161T>A	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	a	5.691	0.312111	0.10789	.	.	ENSG00000198445	ENST00000359963	T	0.13538	2.58	1.98	-2.92	0.05615	.	0.837030	0.09897	U	0.741508	T	0.05181	0.0138	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.17979	0.02	T	0.38351	-0.9665	10	0.87932	D	0	-0.755	0.1096	0.00055	0.3362:0.2441:0.1785:0.2413	.	387	Q96SF2	TCPQM_HUMAN	R	387	ENSP00000353048:S387R	ENSP00000353048:S387R	S	-	3	2	CCT8L2	15452280	0.000000	0.05858	0.229000	0.23960	0.404000	0.30871	-2.205000	0.01232	-0.391000	0.07763	-0.595000	0.04109	AGT		0.562	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			27	37	0	0	0	1	0	27	37				
C11orf30	56946	broad.mit.edu	37	11	76234333	76234333	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr11:76234333G>A	ENST00000529032.1	+	11	1819	c.1819G>A	c.(1819-1821)Gga>Aga	p.G607R	C11orf30_ENST00000334736.3_Missense_Mutation_p.G607R|C11orf30_ENST00000525919.1_Missense_Mutation_p.G608R|C11orf30_ENST00000525038.1_Missense_Mutation_p.G622R|C11orf30_ENST00000533248.1_Missense_Mutation_p.G621R|C11orf30_ENST00000524767.1_Missense_Mutation_p.G622R|C11orf30_ENST00000343878.3_Missense_Mutation_p.G607R|C11orf30_ENST00000524490.1_Missense_Mutation_p.G523R			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	607	Thr-rich.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GCTAAATGCTGGAGTAAGTGA	0.428																																						ENST00000529032.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						c.(1819-1821)Gga>Aga		chromosome 11 open reading frame 30							63.0	58.0	59.0					11																	76234333		2200	4292	6492	SO:0001583	missense	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76234333G>A	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.1819G>A	11.37:g.76234333G>A	ENSP00000432327:p.Gly607Arg					C11orf30_ENST00000533248.1_Missense_Mutation_p.G621R|C11orf30_ENST00000524767.1_Missense_Mutation_p.G622R|C11orf30_ENST00000524490.1_Missense_Mutation_p.G523R|C11orf30_ENST00000334736.3_Missense_Mutation_p.G607R|C11orf30_ENST00000343878.3_Missense_Mutation_p.G607R|C11orf30_ENST00000525038.1_Missense_Mutation_p.G622R|C11orf30_ENST00000525919.1_Missense_Mutation_p.G608R	p.G607R			Q7Z589	EMSY_HUMAN			11	1819	+			607			Thr-rich.		B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	c.1819G>A	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.089609	0.76756	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000343878;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.64170	0.2574	N	0.24115	0.695	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999;0.999	T	0.58668	-0.7596	9	0.18710	T	0.47	-5.8609	19.2357	0.93858	0.0:0.0:1.0:0.0	.	621;622;622;608;523;607	B7ZKT8;B7ZKU2;B7ZKU0;Q17RM7;E9PMC9;Q7Z589	.;.;.;.;.;EMSY_HUMAN	R	523;607;607;622;621;608;622;607	.	ENSP00000334130:G607R	G	+	1	0	C11orf30	75911981	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.869000	0.99810	2.554000	0.86153	0.655000	0.94253	GGA		0.428	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		10	25	0	0	0	1	0	10	25				
TRAPPC8	22878	broad.mit.edu	37	18	29447388	29447388	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr18:29447388T>C	ENST00000283351.4	-	17	2775	c.2440A>G	c.(2440-2442)Att>Gtt	p.I814V	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.I760V	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	814					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TCGCCATTAATTAAGAACTCT	0.269																																						ENST00000283351.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(2440-2442)Att>Gtt		trafficking protein particle complex 8							48.0	50.0	49.0					18																	29447388		2201	4283	6484	SO:0001583	missense	22878				ER to Golgi vesicle-mediated transport	cis-Golgi network		g.chr18:29447388T>C	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.2440A>G	18.37:g.29447388T>C	ENSP00000283351:p.Ile814Val					TRAPPC8_ENST00000582539.1_Missense_Mutation_p.I760V	p.I814V	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN			17	2775	-			814					A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	ENST00000283351.4	37	c.2440A>G	CCDS11901.1	.	.	.	.	.	.	.	.	.	.	T	11.36	1.616742	0.28801	.	.	ENSG00000153339	ENST00000283351	T	0.08370	3.1	5.49	4.18	0.49190	.	0.159670	0.56097	N	0.000031	T	0.11239	0.0274	M	0.67953	2.075	0.80722	D	1	B	0.29612	0.251	B	0.27887	0.084	T	0.02721	-1.1119	10	0.49607	T	0.09	.	10.8662	0.46856	0.0:0.0815:0.0:0.9185	.	814	Q9Y2L5	TPPC8_HUMAN	V	814	ENSP00000283351:I814V	ENSP00000283351:I814V	I	-	1	0	TRAPPC8	27701386	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.096000	0.30976	0.773000	0.33404	0.477000	0.44152	ATT		0.269	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		38	66	0	0	0	1	0	38	66				
SUPT16H	11198	broad.mit.edu	37	14	21852044	21852044	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr14:21852044T>C	ENST00000216297.2	-	1	381	c.43A>G	c.(43-45)Aag>Gag	p.K15E	RP11-524O1.4_ENST00000565098.1_RNA|SUPT16H_ENST00000555943.1_Missense_Mutation_p.K15E	NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	15					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TACAGTCTCTTCACTCGCCGA	0.557																																						ENST00000216297.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(43-45)Aag>Gag		suppressor of Ty 16 homolog (S. cerevisiae)							73.0	77.0	76.0					14																	21852044		2203	4300	6503	SO:0001583	missense	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21852044T>C	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.43A>G	14.37:g.21852044T>C	ENSP00000216297:p.Lys15Glu					SUPT16H_ENST00000555943.1_Missense_Mutation_p.K15E	p.K15E	NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	1	381	-	all_cancers(95;0.00115)		15					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Missense_Mutation	SNP	ENST00000216297.2	37	c.43A>G	CCDS9569.1	.	.	.	.	.	.	.	.	.	.	T	14.84	2.654490	0.47467	.	.	ENSG00000092201	ENST00000216297;ENST00000538230;ENST00000555943	.	.	.	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.61726	0.2370	M	0.63428	1.95	0.24087	N	0.995927	D;D;B	0.89917	1.0;0.996;0.101	D;D;B	0.83275	0.996;0.987;0.032	T	0.54009	-0.8357	9	0.19147	T	0.46	-21.1272	12.1438	0.54012	0.0:0.0:0.0:1.0	.	15;15;15	G3V2X0;G3V401;Q9Y5B9	.;.;SP16H_HUMAN	E	15	.	ENSP00000216297:K15E	K	-	1	0	SUPT16H	20921884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.983000	0.49345	2.071000	0.62044	0.460000	0.39030	AAG		0.557	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			4	103	0	0	0	1	0	4	103				
FRRS1	391059	broad.mit.edu	37	1	100177977	100177977	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr1:100177977G>A	ENST00000414213.1	-	13	2019	c.1418C>T	c.(1417-1419)cCa>cTa	p.P473L	FRRS1_ENST00000287474.5_Missense_Mutation_p.P473L|FRRS1_ENST00000492943.1_5'UTR			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	473	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.					integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		TAAGTACCTTGGGTCATGTAA	0.388																																						ENST00000414213.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26						c.(1417-1419)cCa>cTa		ferric-chelate reductase 1							76.0	74.0	75.0					1																	100177977		2203	4300	6503	SO:0001583	missense	391059				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding	g.chr1:100177977G>A	AK131302	CCDS30780.1	1p21.3	2009-11-30	2006-02-22	2006-02-22	ENSG00000156869	ENSG00000156869			27622	protein-coding gene	gene with protein product		611578	"""stromal cell derived factor receptor 2 homolog (mouse)"""	SDFR2			Standard	NM_001013660		Approved	SDR2	uc001dsh.1	Q6ZNA5	OTTHUMG00000010768	ENST00000414213.1:c.1418C>T	1.37:g.100177977G>A	ENSP00000393884:p.Pro473Leu					FRRS1_ENST00000492943.1_5'UTR|FRRS1_ENST00000287474.5_Missense_Mutation_p.P473L	p.P473L			Q6ZNA5	FRRS1_HUMAN		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)	13	2019	-		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)	473			Cytochrome b561.		A6NLN7	Missense_Mutation	SNP	ENST00000414213.1	37	c.1418C>T		.	.	.	.	.	.	.	.	.	.	G	11.32	1.604800	0.28623	.	.	ENSG00000156869	ENST00000414213;ENST00000287474	.	.	.	5.62	4.7	0.59300	.	0.125710	0.52532	D	0.000078	T	0.70124	0.3188	M	0.84683	2.71	0.80722	D	1	D	0.54207	0.965	P	0.55871	0.786	T	0.75479	-0.3303	9	0.51188	T	0.08	.	14.5701	0.68205	0.0:0.0:0.8524:0.1476	.	473	Q6ZNA5-2	.	L	473	.	ENSP00000287474:P473L	P	-	2	0	FRRS1	99950565	1.000000	0.71417	0.998000	0.56505	0.094000	0.18550	4.108000	0.57817	1.343000	0.45638	0.655000	0.94253	CCA		0.388	FRRS1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001013660		18	20	0	0	0	1	0	18	20				
FAM47A	158724	broad.mit.edu	37	X	34149866	34149866	+	Missense_Mutation	SNP	G	G	T	rs373495457		TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chrX:34149866G>T	ENST00000346193.3	-	1	581	c.530C>A	c.(529-531)aCt>aAt	p.T177N		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	177	Pro-rich.									NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ACCAGGCTCAGTGGGTACCTC	0.577																																						ENST00000346193.3																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(529-531)aCt>aAt		family with sequence similarity 47, member A							66.0	67.0	67.0					X																	34149866		2202	4300	6502	SO:0001583	missense	158724							g.chrX:34149866G>T	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.530C>A	X.37:g.34149866G>T	ENSP00000345029:p.Thr177Asn						p.T177N	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	581	-			177			Pro-rich.		A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.530C>A	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	G	9.150	1.016004	0.19355	.	.	ENSG00000185448	ENST00000346193	T	0.19105	2.17	1.1	-2.21	0.06973	.	.	.	.	.	T	0.28499	0.0705	L	0.43923	1.385	0.09310	N	1	D	0.71674	0.998	D	0.67725	0.953	T	0.16424	-1.0403	9	0.59425	D	0.04	.	3.7436	0.08540	0.2104:0.4646:0.325:0.0	.	177	Q5JRC9	FA47A_HUMAN	N	177	ENSP00000345029:T177N	ENSP00000345029:T177N	T	-	2	0	FAM47A	34059787	0.016000	0.18221	0.000000	0.03702	0.000000	0.00434	0.148000	0.16224	-1.416000	0.02019	-1.358000	0.01219	ACT		0.577	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		13	14	1	0	0.00136819	1	0.00139377	13	14				
SSPO	23145	broad.mit.edu	37	7	149509413	149509413	+	RNA	SNP	G	G	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr7:149509413G>A	ENST00000378016.2	+	0	9811							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGTGGGGGAGGCCTGCGGAG	0.716																																						ENST00000378016.2																			0													SCO-spondin							6.0	8.0	7.0					7																	149509413		1736	3872	5608			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149509413G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149509413G>A										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	9811	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.716	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				8	5	0	0	0	1	0	8	5				
SLC20A1	6574	broad.mit.edu	37	2	113404993	113404993	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr2:113404993G>A	ENST00000272542.3	+	3	966	c.427G>A	c.(427-429)Gtg>Atg	p.V143M	AC079922.3_ENST00000457336.1_lincRNA	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	143					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						TTTCTCCCTCGTGGCAAAGGG	0.433																																						ENST00000272542.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						c.(427-429)Gtg>Atg		solute carrier family 20 (phosphate transporter), member 1							190.0	197.0	195.0					2																	113404993		2203	4300	6503	SO:0001583	missense	6574				phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	g.chr2:113404993G>A		CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"""Solute carriers"""	10946	protein-coding gene	gene with protein product	"""gibbon ape leukemia virus receptor 1"""	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.427G>A	2.37:g.113404993G>A	ENSP00000272542:p.Val143Met						p.V143M	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN			3	966	+			143					Q08344|Q6DHX8|Q9UQ82	Missense_Mutation	SNP	ENST00000272542.3	37	c.427G>A	CCDS2099.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364267	0.82463	.	.	ENSG00000144136	ENST00000272542	D	0.91011	-2.77	5.73	4.86	0.63082	.	0.054435	0.64402	D	0.000001	D	0.94188	0.8135	M	0.73319	2.225	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	D	0.94404	0.7625	10	0.72032	D	0.01	-13.8419	12.4968	0.55933	0.0807:0.0:0.9193:0.0	.	143	Q8WUM9	S20A1_HUMAN	M	143	ENSP00000272542:V143M	ENSP00000272542:V143M	V	+	1	0	SLC20A1	113121464	1.000000	0.71417	0.917000	0.36280	0.940000	0.58332	9.864000	0.99589	1.423000	0.47198	0.655000	0.94253	GTG		0.433	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2	NM_005415		96	121	0	0	0	1	0	96	121				
GYLTL1B	120071	broad.mit.edu	37	11	45950259	45950259	+	Missense_Mutation	SNP	C	C	T	rs2271851	byFrequency	TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr11:45950259C>T	ENST00000531526.1	+	14	2140	c.2029C>T	c.(2029-2031)Cgc>Tgc	p.R677C	GYLTL1B_ENST00000325468.5_Missense_Mutation_p.R677C|GYLTL1B_ENST00000401752.1_Missense_Mutation_p.R677C|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.R646C|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.R646C	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	677			R -> C (in dbSNP:rs2271851).		muscle cell cellular homeostasis (GO:0046716)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		CTCCCGCTTCCGCTCCAGCCC	0.637													C|||	4	0.000798722	0.0	0.0	5008	,	,		18479	0.004		0.0	False		,,,				2504	0.0					ENST00000531526.1																			0				breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22						c.(2029-2031)Cgc>Tgc		glycosyltransferase-like 1B		C	CYS/ARG	0,4406		0,0,2203	83.0	75.0	78.0		2029	5.6	1.0	11	dbSNP_100	78	4,8594	3.7+/-12.6	0,4,4295	yes	missense	GYLTL1B	NM_152312.3	180	0,4,6498	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging	677/722	45950259	4,13000	2203	4299	6502	SO:0001583	missense	120071				muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr11:45950259C>T		CCDS31473.1	11p11.12	2013-02-22			ENSG00000165905	ENSG00000165905		"""Glycosyltransferase family 8 domain containing"""	16522	protein-coding gene	gene with protein product		609709				15661757, 15958417	Standard	XM_005252785		Approved	PP5656, FLJ35207, LARGE2	uc001nbv.1	Q8N3Y3	OTTHUMG00000167037	ENST00000531526.1:c.2029C>T	11.37:g.45950259C>T	ENSP00000432869:p.Arg677Cys					GYLTL1B_ENST00000401752.1_Missense_Mutation_p.R677C|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.R646C|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.R677C|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.R646C	p.R677C	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN		GBM - Glioblastoma multiforme(35;0.226)	14	2140	+			677		R -> C (in dbSNP:rs2271851).			A6NN75|Q8N8Y6|Q8NAK3|Q8WY62	Missense_Mutation	SNP	ENST00000531526.1	37	c.2029C>T	CCDS31473.1	3|3	0.0013736263736263737|0.0013736263736263737	0|0	0.0|0.0	0|0	0.0|0.0	3|3	0.005244755244755245|0.005244755244755245	0|0	0.0|0.0	C|C	34|34	5.402195|5.402195	0.96030|0.96030	0.0|0.0	4.65E-4|4.65E-4	ENSG00000165905|ENSG00000165905	ENST00000531847|ENST00000529052;ENST00000531526;ENST00000401752;ENST00000325468;ENST00000536139	.|T;T;T;T;T	.|0.55930	.|0.5;0.49;0.49;0.49;0.5	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.75148|0.75148	0.3810|0.3810	M|M	0.92738|0.92738	3.34|3.34	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;0.995	T|T	0.83216|0.83216	-0.0071|-0.0071	5|10	.|0.87932	.|D	.|0	-29.2362|-29.2362	19.6939|19.6939	0.96016|0.96016	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	rs2271851;rs2271851|rs2271851;rs2271851	.|646;646;677	.|B3KP69;E9PIZ2;Q8N3Y3	.|.;.;LARG2_HUMAN	L|C	38|646;677;677;677;646	.|ENSP00000431932:R646C;ENSP00000432869:R677C;ENSP00000385235:R677C;ENSP00000324570:R677C;ENSP00000445044:R646C	.|ENSP00000324570:R677C	P|R	+|+	2|1	0|0	GYLTL1B|GYLTL1B	45906835|45906835	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.485000|7.485000	0.81204|0.81204	2.643000|2.643000	0.89663|0.89663	0.655000|0.655000	0.94253|0.94253	CCG|CGC		0.637	GYLTL1B-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392572.1	NM_152312		11	53	0	0	0	1	0	11	53				
C4BPA	722	broad.mit.edu	37	1	207287603	207287603	+	Missense_Mutation	SNP	G	G	A	rs148489140		TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr1:207287603G>A	ENST00000367070.3	+	3	495	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	101	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TTCTGATGGCGAATGGGTGTA	0.393													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19187	0.0		0.0	False		,,,				2504	0.0					ENST00000367070.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						c.(301-303)Gaa>Aaa		complement component 4 binding protein, alpha		G	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	101.0	92.0	95.0		301	-8.9	0.0	1	dbSNP_134	95	0,8600		0,0,4300	yes	missense	C4BPA	NM_000715.3	56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	101/598	207287603	1,13005	2203	4300	6503	SO:0001583	missense	722				complement activation, classical pathway|innate immune response	extracellular region	protein binding	g.chr1:207287603G>A	M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"""complement component 4-binding protein, alpha"""	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.301G>A	1.37:g.207287603G>A	ENSP00000356037:p.Glu101Lys						p.E101K	NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN			3	495	+			101			Sushi 1.		Q5VVQ8	Missense_Mutation	SNP	ENST00000367070.3	37	c.301G>A	CCDS1477.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.623601	0.00820	2.27E-4	0.0	ENSG00000123838	ENST00000367070;ENST00000421786	T;T	0.65732	-0.17;-0.17	4.42	-8.85	0.00799	Complement control module (2);Sushi/SCR/CCP (3);	10.609400	0.00166	N	0.000000	T	0.28896	0.0717	N	0.02247	-0.625	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.25641	-1.0126	10	0.14252	T	0.57	.	4.3823	0.11300	0.3628:0.0959:0.4003:0.141	.	101	P04003	C4BPA_HUMAN	K	101	ENSP00000356037:E101K;ENSP00000403386:E101K	ENSP00000356037:E101K	E	+	1	0	C4BPA	205354226	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.942000	0.00329	-5.199000	0.00019	-0.724000	0.03597	GAA		0.393	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088089.3			4	94	0	0	0	1	0	4	94				
FURIN	5045	broad.mit.edu	37	15	91420200	91420200	+	Silent	SNP	C	C	G			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr15:91420200C>G	ENST00000268171.3	+	5	726	c.447C>G	c.(445-447)gtC>gtG	p.V149V		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	149	Peptidase S8.				cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of low-density lipoprotein particle receptor catabolic process (GO:0032804)|negative regulation of transforming growth factor beta1 production (GO:0032911)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-translational protein modification (GO:0043687)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)|regulation of protein catabolic process (GO:0042176)|secretion by cell (GO:0032940)|signal peptide processing (GO:0006465)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|nerve growth factor binding (GO:0048406)|peptidase activity (GO:0008233)|peptide binding (GO:0042277)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GCATTGTGGTCTCCATTCTGG	0.602																																						ENST00000268171.3																			0				breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36						c.(445-447)gtC>gtG		furin (paired basic amino acid cleaving enzyme)							140.0	121.0	127.0					15																	91420200		2198	4298	6496	SO:0001819	synonymous_variant	5045				cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity	g.chr15:91420200C>G	X17094	CCDS10364.1	15q26.1	2007-01-24	2002-12-04	2002-12-06	ENSG00000140564	ENSG00000140564			8568	protein-coding gene	gene with protein product		136950	"""paired basic amino acid cleaving enzyme (furin, membrane associated receptor protein)"""	PCSK3, FUR, PACE		2251280, 1741956	Standard	NM_002569		Approved	SPC1	uc002bpu.1	P09958	OTTHUMG00000149831	ENST00000268171.3:c.447C>G	15.37:g.91420200C>G							p.V149V	NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	Lung(145;0.189)		5	726	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		149					Q14336|Q6LBS3|Q9UCZ5	Silent	SNP	ENST00000268171.3	37	c.447C>G	CCDS10364.1																																																																																				0.602	FURIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313492.1	NM_002569		66	32	0	0	0	1	0	66	32				
PHRF1	57661	broad.mit.edu	37	11	601588	601588	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr11:601588G>C	ENST00000264555.5	+	10	1167	c.1039G>C	c.(1039-1041)Gtg>Ctg	p.V347L	PHRF1_ENST00000533464.1_Missense_Mutation_p.V343L|PHRF1_ENST00000413872.2_Missense_Mutation_p.V346L|PHRF1_ENST00000416188.2_Missense_Mutation_p.V347L	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	347	Arg-rich.				mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						ACGGAAGAAAGTGCCGGGAAG	0.537																																						ENST00000264555.5																			0				breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						c.(1039-1041)Gtg>Ctg		PHD and ring finger domains 1							71.0	77.0	75.0					11																	601588		1895	4101	5996	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:601588G>C	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.1039G>C	11.37:g.601588G>C	ENSP00000264555:p.Val347Leu					PHRF1_ENST00000416188.2_Missense_Mutation_p.V347L|PHRF1_ENST00000413872.2_Missense_Mutation_p.V346L|PHRF1_ENST00000533464.1_Missense_Mutation_p.V343L	p.V347L	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN			10	1167	+			347			Arg-rich.		A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.1039G>C		.	.	.	.	.	.	.	.	.	.	G	9.717	1.158523	0.21454	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98	4.61	4.61	0.57282	.	0.713919	0.11438	N	0.564099	D	0.88066	0.6337	L	0.40543	1.245	0.21325	N	0.999721	B;P;P;B	0.35872	0.39;0.525;0.525;0.39	B;B;B;B	0.33454	0.079;0.164;0.164;0.079	T	0.79451	-0.1798	10	0.30854	T	0.27	-5.8189	14.2936	0.66298	0.0:0.0:1.0:0.0	.	343;346;347;347	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	L	347;346;347;343	ENSP00000264555:V347L;ENSP00000388589:V346L;ENSP00000410626:V347L;ENSP00000431870:V343L	ENSP00000264555:V347L	V	+	1	0	PHRF1	591588	0.946000	0.32159	0.042000	0.18584	0.068000	0.16541	3.225000	0.51246	2.394000	0.81467	0.563000	0.77884	GTG		0.537	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		17	42	0	0	0	1	0	17	42				
KCNJ3	3760	broad.mit.edu	37	2	155711567	155711567	+	Silent	SNP	C	C	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr2:155711567C>A	ENST00000295101.2	+	3	1725	c.1248C>A	c.(1246-1248)ctC>ctA	p.L416L		NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	416					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CCAAAAAACTCTTGAGGATGA	0.388																																						ENST00000295101.2																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54						c.(1246-1248)ctC>ctA		potassium inwardly-rectifying channel, subfamily J, member 3	Halothane(DB01159)						72.0	82.0	79.0					2																	155711567		2202	4299	6501	SO:0001819	synonymous_variant	3760				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr2:155711567C>A	U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.1248C>A	2.37:g.155711567C>A							p.L416L	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN			3	1725	+			416					B4DEW7|Q8TBI0	Silent	SNP	ENST00000295101.2	37	c.1248C>A	CCDS2200.1																																																																																				0.388	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239		45	44	1	0	4.0306e-16	1	4.82786e-16	45	44				
ZNF440	126070	broad.mit.edu	37	19	11943101	11943101	+	Silent	SNP	T	T	C			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr19:11943101T>C	ENST00000304060.5	+	4	1274	c.1110T>C	c.(1108-1110)tgT>tgC	p.C370C		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	370					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CCTATAAATGTAAGCAGTGTG	0.383																																						ENST00000304060.5																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1108-1110)tgT>tgC		zinc finger protein 440							45.0	48.0	47.0					19																	11943101		2201	4299	6500	SO:0001819	synonymous_variant	126070				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11943101T>C	AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"""Zinc fingers, C2H2-type"", ""-"""	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.1110T>C	19.37:g.11943101T>C							p.C370C	NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN			4	1274	+			370					Q8N1R9	Silent	SNP	ENST00000304060.5	37	c.1110T>C	CCDS42503.1																																																																																				0.383	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344508.1	NM_152357		6	57	0	0	0	1	0	6	57				
ESRRG	2104	broad.mit.edu	37	1	216850525	216850525	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr1:216850525G>T	ENST00000408911.3	-	2	518	c.365C>A	c.(364-366)tCg>tAg	p.S122*	ESRRG_ENST00000463665.1_Nonsense_Mutation_p.S99*|ESRRG_ENST00000361525.3_Nonsense_Mutation_p.S99*|ESRRG_ENST00000391890.3_Nonsense_Mutation_p.S99*|ESRRG_ENST00000360012.3_Nonsense_Mutation_p.S99*|ESRRG_ENST00000366940.2_Nonsense_Mutation_p.S99*|ESRRG_ENST00000361395.2_Nonsense_Mutation_p.S99*|ESRRG_ENST00000493748.1_Nonsense_Mutation_p.S99*|ESRRG_ENST00000359162.2_Nonsense_Mutation_p.S99*|ESRRG_ENST00000487276.1_Nonsense_Mutation_p.S99*|ESRRG_ENST00000493603.1_Nonsense_Mutation_p.S99*|ESRRG_ENST00000366937.1_Nonsense_Mutation_p.S127*|ESRRG_ENST00000366938.2_Nonsense_Mutation_p.S99*	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	122					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CTTGGGCATCGAGTTGAGCAT	0.502																																						ENST00000391890.3																			0				endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49						c.(295-297)tCg>tAg		estrogen-related receptor gamma	Diethylstilbestrol(DB00255)						224.0	199.0	207.0					1																	216850525		2203	4300	6503	SO:0001587	stop_gained	2104				positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:216850525G>T	AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.365C>A	1.37:g.216850525G>T	ENSP00000386171:p.Ser122*					ESRRG_ENST00000493603.1_Nonsense_Mutation_p.S99*|ESRRG_ENST00000493748.1_Nonsense_Mutation_p.S99*|ESRRG_ENST00000487276.1_Nonsense_Mutation_p.S99*|ESRRG_ENST00000366940.2_Nonsense_Mutation_p.S99*|ESRRG_ENST00000366938.2_Nonsense_Mutation_p.S99*|ESRRG_ENST00000360012.3_Nonsense_Mutation_p.S99*|ESRRG_ENST00000361525.3_Nonsense_Mutation_p.S99*|ESRRG_ENST00000359162.2_Nonsense_Mutation_p.S99*|ESRRG_ENST00000408911.3_Nonsense_Mutation_p.S122*|ESRRG_ENST00000463665.1_Nonsense_Mutation_p.S99*|ESRRG_ENST00000366937.1_Nonsense_Mutation_p.S127*|ESRRG_ENST00000361395.2_Nonsense_Mutation_p.S99*	p.S99*	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	4	813	-			122					A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Nonsense_Mutation	SNP	ENST00000408911.3	37	c.296C>A	CCDS41468.1	.	.	.	.	.	.	.	.	.	.	G	37	6.276906	0.97435	.	.	ENSG00000196482	ENST00000361525;ENST00000366940;ENST00000366937;ENST00000408911;ENST00000359162;ENST00000361395;ENST00000366938;ENST00000360012;ENST00000493603;ENST00000391890;ENST00000463665;ENST00000487276;ENST00000354407;ENST00000493748;ENST00000475275	.	.	.	6.01	6.01	0.97437	.	0.053237	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.5211	0.99222	0.0:0.0:1.0:0.0	.	.	.	.	X	99;99;127;122;99;99;99;99;99;99;99;99;99;99;99	.	ENSP00000346386:S99X	S	-	2	0	ESRRG	214917148	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.861000	0.98227	0.650000	0.86243	TCG		0.502	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595		56	73	1	0	3.84483e-29	1	4.81709e-29	56	73				
CFTR	1080	broad.mit.edu	37	7	117230489	117230489	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr7:117230489G>T	ENST00000003084.6	+	13	1894	c.1762G>T	c.(1762-1764)Gaa>Taa	p.E588*	CFTR_ENST00000454343.1_Nonsense_Mutation_p.E527*	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	588	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	AGAAATATTTGAAAGGTATGT	0.294									Cystic Fibrosis																													ENST00000003084.6																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	GRCh37	CM022335	CFTR	M		c.(1762-1764)Gaa>Taa		cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	Bumetanide(DB00887)|Glibenclamide(DB01016)						60.0	68.0	65.0					7																	117230489		2198	4288	6486	SO:0001587	stop_gained	1080	Cystic Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117230489G>T	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.1762G>T	7.37:g.117230489G>T	ENSP00000003084:p.Glu588*					CFTR_ENST00000454343.1_Nonsense_Mutation_p.E527*	p.E588*	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		13	1894	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		588			ABC transporter 1.		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Nonsense_Mutation	SNP	ENST00000003084.6	37	c.1762G>T	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	G	38	6.935957	0.97948	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	.	.	.	4.83	4.83	0.62350	.	0.144603	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-13.6426	17.9064	0.88919	0.0:0.0:1.0:0.0	.	.	.	.	X	588;527;558	.	ENSP00000003084:E588X	E	+	1	0	CFTR	117017725	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.148000	0.94652	2.386000	0.81285	0.563000	0.77884	GAA		0.294	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		9	77	1	0	2.74318e-10	1	3.08254e-10	9	77				
TMEM140	55281	broad.mit.edu	37	7	134849719	134849719	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr7:134849719G>A	ENST00000275767.3	+	2	749	c.526G>A	c.(526-528)Gag>Aag	p.E176K	C7orf49_ENST00000459937.1_Intron	NM_018295.3	NP_060765.4	Q9NV12	TM140_HUMAN	transmembrane protein 140	176						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(2)	5						TCTGAGGGCTGAGAGGGCTGA	0.577																																						ENST00000275767.2																			0				kidney(1)|large_intestine(2)|lung(2)	5						c.(526-528)Gag>Aag		transmembrane protein 140							47.0	47.0	47.0					7																	134849719		2203	4300	6503	SO:0001583	missense	55281					integral to membrane		g.chr7:134849719G>A	AK001862	CCDS5837.1	7q33	2006-03-17			ENSG00000146859	ENSG00000146859			21870	protein-coding gene	gene with protein product							Standard	NM_018295		Approved	FLJ11000	uc003vsi.3	Q9NV12	OTTHUMG00000155413	ENST00000275767.3:c.526G>A	7.37:g.134849719G>A	ENSP00000275767:p.Glu176Lys					C7orf49_ENST00000459937.1_Intron	p.E176K	NM_018295.4	NP_060765.4	Q9NV12	TM140_HUMAN			2	749	+			176					A4D1P9|Q8WUC3	Missense_Mutation	SNP	ENST00000275767.3	37	c.526G>A	CCDS5837.1	.	.	.	.	.	.	.	.	.	.	G	0.025	-1.376759	0.01214	.	.	ENSG00000146859	ENST00000275767;ENST00000456488	T	0.17854	2.25	2.13	-4.25	0.03766	.	1.263540	0.05645	N	0.584185	T	0.08179	0.0204	N	0.20401	0.57	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.26677	-1.0096	10	0.14656	T	0.56	-0.0064	1.7643	0.02998	0.221:0.2808:0.3702:0.128	.	176	Q9NV12	TM140_HUMAN	K	176;139	ENSP00000275767:E176K	ENSP00000275767:E176K	E	+	1	0	TMEM140	134500259	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.147000	0.10234	-3.331000	0.00185	-3.782000	0.00020	GAG		0.577	TMEM140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340017.2	NM_018295		10	28	0	0	0	1	0	10	28				
SCN3A	6328	broad.mit.edu	37	2	165953014	165953014	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr2:165953014C>G	ENST00000360093.3	-	24	4747	c.4256G>C	c.(4255-4257)tGg>tCg	p.W1419S	SCN3A_ENST00000409101.3_Missense_Mutation_p.W1370S|SCN3A_ENST00000540861.1_5'Flank|SCN3A_ENST00000283254.7_Missense_Mutation_p.W1419S|SCN3A_ENST00000465043.1_5'Flank	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1419					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AATATCCATCCAGCCTTTAAA	0.294																																						ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(4255-4257)tGg>tCg		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						85.0	86.0	86.0					2																	165953014		2202	4289	6491	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165953014C>G	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.4256G>C	2.37:g.165953014C>G	ENSP00000353206:p.Trp1419Ser					SCN3A_ENST00000409101.3_Missense_Mutation_p.W1370S|SCN3A_ENST00000283254.7_Missense_Mutation_p.W1419S	p.W1419S	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			24	4747	-			1419					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.4256G>C		.	.	.	.	.	.	.	.	.	.	C	24.5	4.538603	0.85917	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101	D;D;D	0.97850	-4.57;-4.57;-4.57	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.99563	0.9843	H	0.99991	5.335	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.97110	0.996;0.996;1.0	D	0.97180	0.9850	10	0.87932	D	0	.	19.4652	0.94934	0.0:1.0:0.0:0.0	.	1370;1370;1419	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	S	1419;1419;1370	ENSP00000353206:W1419S;ENSP00000283254:W1419S;ENSP00000386726:W1370S	ENSP00000283254:W1419S	W	-	2	0	SCN3A	165661260	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.878000	0.63093	2.681000	0.91329	0.561000	0.74099	TGG		0.294	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		14	42	0	0	0	1	0	14	42				
RBM33	155435	broad.mit.edu	37	7	155503997	155503997	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr7:155503997C>T	ENST00000401878.3	+	8	1247	c.1049C>T	c.(1048-1050)cCg>cTg	p.P350L	RBM33_ENST00000486747.1_3'UTR	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	350	Pro-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		GTGCAGCACCCGCACCACCCA	0.687																																						ENST00000401878.3																			0				breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27						c.(1048-1050)cCg>cTg		RNA binding motif protein 33							42.0	51.0	48.0					7																	155503997		2059	4200	6259	SO:0001583	missense	155435						nucleotide binding|RNA binding	g.chr7:155503997C>T	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"""RNA binding motif (RRM) containing"""	27223	protein-coding gene	gene with protein product			"""proline rich 8"""	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.1049C>T	7.37:g.155503997C>T	ENSP00000384160:p.Pro350Leu					RBM33_ENST00000486747.1_3'UTR	p.P350L	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)	8	1247	+	all_neural(206;0.101)	all_hematologic(28;0.0592)	350			Pro-rich.		A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Missense_Mutation	SNP	ENST00000401878.3	37	c.1049C>T	CCDS5941.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.20|11.20	1.568040|1.568040	0.28003|0.28003	.|.	.|.	ENSG00000184863|ENSG00000184863	ENST00000401878;ENST00000440108|ENST00000392761	T|.	0.42513|.	0.97|.	5.1|5.1	4.22|4.22	0.49857|0.49857	.|.	.|.	.|.	.|.	.|.	T|T	0.57344|0.57344	0.2047|0.2047	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	B;B|.	0.18968|.	0.032;0.014|.	B;B|.	0.13407|.	0.005;0.009|.	T|T	0.53913|0.53913	-0.8371|-0.8371	9|5	0.46703|.	T|.	0.11|.	.|.	8.2948|8.2948	0.31980|0.31980	0.1949:0.7217:0.0:0.0834|0.1949:0.7217:0.0:0.0834	.|.	67;350|.	B4DVQ2;Q96EV2|.	.;RBM33_HUMAN|.	L|C	350;251|122	ENSP00000384160:P350L|.	ENSP00000384160:P350L|.	P|R	+|+	2|1	0|0	RBM33|RBM33	155196758|155196758	1.000000|1.000000	0.71417|0.71417	0.977000|0.977000	0.42913|0.42913	0.149000|0.149000	0.21700|0.21700	5.066000|5.066000	0.64351|0.64351	1.164000|1.164000	0.42652|0.42652	0.557000|0.557000	0.71058|0.71058	CCG|CGC		0.687	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408		22	38	0	0	0	1	0	22	38				
USP36	57602	broad.mit.edu	37	17	76816075	76816075	+	De_novo_Start_OutOfFrame	SNP	C	C	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr17:76816075C>T	ENST00000449938.2	-	0	1403				USP36_ENST00000312010.6_Missense_Mutation_p.R283H|USP36_ENST00000542802.3_Missense_Mutation_p.R283H|USP36_ENST00000588467.1_5'Flank			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36						protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)	p.R283H(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TTCCAGAGCACGCACAATATT	0.428																																						ENST00000449938.2																			2	Substitution - Missense(2)	p.R283H(2)	prostate(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34								ubiquitin specific peptidase 36							175.0	154.0	161.0					17																	76816075		2203	4300	6503			57602				ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:76816075C>T	AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000449938.2:c.-53G>A	17.37:g.76816075C>T						USP36_ENST00000312010.6_Missense_Mutation_p.R283H|USP36_ENST00000542802.2_Missense_Mutation_p.R283H				Q9P275	UBP36_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)		0	1403	-								Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Translation_Start_Site	SNP	ENST00000449938.2	37			.	.	.	.	.	.	.	.	.	.	C	21.5	4.163584	0.78226	.	.	ENSG00000055483	ENST00000312010;ENST00000542802;ENST00000432878	T;T	0.05382	3.45;3.45	5.06	4.09	0.47781	.	0.053196	0.85682	D	0.000000	T	0.11623	0.0283	N	0.13003	0.285	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.17410	-1.0370	10	0.54805	T	0.06	-15.7544	13.0418	0.58904	0.0:0.9207:0.0:0.0793	.	283	Q9P275-2	.	H	283	ENSP00000310590:R283H;ENSP00000441214:R283H	ENSP00000310590:R283H	R	-	2	0	USP36	74327670	0.999000	0.42202	0.916000	0.36221	0.705000	0.40729	5.408000	0.66368	1.118000	0.41863	0.655000	0.94253	CGT		0.428	USP36-202	KNOWN	basic	protein_coding	protein_coding		NM_025090		101	44	0	0	0	1	0	101	44				
CT47B1	643311	broad.mit.edu	37	X	120008940	120008940	+	Silent	SNP	C	C	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chrX:120008940C>T	ENST00000371311.3	-	1	839	c.585G>A	c.(583-585)tcG>tcA	p.S195S		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	195										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CCTCCTGGACCGACGCAGCCT	0.706																																						ENST00000371311.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						c.(583-585)tcG>tcA		cancer/testis antigen family 47, member B1							27.0	27.0	27.0					X																	120008940		692	1588	2280	SO:0001819	synonymous_variant	643311							g.chrX:120008940C>T		CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"""cancer/testis CT47 family, member 13"""	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.585G>A	X.37:g.120008940C>T							p.S195S	NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN			1	839	-			195					A6NM97	Silent	SNP	ENST00000371311.3	37	c.585G>A	CCDS48161.1																																																																																				0.706	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1	NM_001145718		42	13	0	0	0	1	0	42	13				
BTBD6	90135	broad.mit.edu	37	14	105715748	105715748	+	Silent	SNP	C	C	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr14:105715748C>T	ENST00000392554.3	+	3	655	c.358C>T	c.(358-360)Ctg>Ttg	p.L120L	BRF1_ENST00000327359.3_Intron|BTBD6_ENST00000536364.1_Silent_p.L120L|BRF1_ENST00000446501.2_5'Flank|BRF1_ENST00000379937.2_Intron|BRF1_ENST00000392557.4_5'Flank|BRF1_ENST00000546474.1_Intron|BRF1_ENST00000440513.3_Intron|BRF1_ENST00000379932.4_5'Flank|BRF1_ENST00000551787.1_5'Flank|BTBD6_ENST00000463376.2_Silent_p.L45L|BTBD6_ENST00000327471.3_Silent_p.L45L			Q96KE9	BTBD6_HUMAN	BTB (POZ) domain containing 6	120	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					cytoplasm (GO:0005737)				endometrium(1)|lung(3)	4		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)		CTACGGAGACCTGGCGGAAGT	0.582																																						ENST00000463376.2																			0				endometrium(1)|lung(3)	4						c.(133-135)Ctg>Ttg		BTB (POZ) domain containing 6							43.0	40.0	41.0					14																	105715748		2201	4300	6501	SO:0001819	synonymous_variant	90135					cytoplasmic mRNA processing body		g.chr14:105715748C>T	AF353674	CCDS10002.1, CCDS10002.2	14q32.33	2013-01-08			ENSG00000184887	ENSG00000184887		"""BTB/POZ domain containing"""	19897	protein-coding gene	gene with protein product							Standard	NM_033271		Approved	BDPL	uc010tyq.2	Q96KE9	OTTHUMG00000029887	ENST00000392554.3:c.358C>T	14.37:g.105715748C>T						BRF1_ENST00000546474.1_Intron|BRF1_ENST00000440513.3_Intron|BTBD6_ENST00000536364.1_Silent_p.L120L|BTBD6_ENST00000392554.3_Silent_p.L120L|BRF1_ENST00000327359.3_Intron|BTBD6_ENST00000327471.3_Silent_p.L45L|BRF1_ENST00000379937.2_Intron	p.L45L			Q96KE9	BTBD6_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)	2	674	+		Melanoma(154;0.226)	120			Pro-rich.		Q8IVQ7|Q9BR94	Silent	SNP	ENST00000392554.3	37	c.133C>T	CCDS10002.2																																																																																				0.582	BTBD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074556.4			26	52	0	0	0	1	0	26	52				
SCN1A	6323	broad.mit.edu	37	2	166848051	166848051	+	Nonsense_Mutation	SNP	G	G	A	rs77216276		TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr2:166848051G>A	ENST00000303395.4	-	26	5733	c.5734C>T	c.(5734-5736)Cga>Tga	p.R1912*	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.R1901*|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.R1884*|SCN1A_ENST00000423058.2_Nonsense_Mutation_p.R1912*			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1912					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCTTGTTTTCGTTTTAAAGTA	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		19192	0.0		0.001	False		,,,				2504	0.0					ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200	GRCh37	CM044053	SCN1A	M	rs77216276	c.(5734-5736)Cga>Tga		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						100.0	95.0	97.0					2																	166848051		2203	4300	6503	SO:0001587	stop_gained	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166848051G>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.5734C>T	2.37:g.166848051G>A	ENSP00000303540:p.Arg1912*					SCN1A_ENST00000303395.4_Nonsense_Mutation_p.R1912*|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.R1901*|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.R1884*|AC010127.3_ENST00000595647.1_RNA	p.R1912*	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			26	5751	-			1912					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Nonsense_Mutation	SNP	ENST00000303395.4	37	c.5734C>T	CCDS54413.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	42	9.286480	0.99125	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	.	.	.	5.76	1.83	0.25207	.	0.000000	0.51477	D	0.000089	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.561	0.84566	0.0:0.0:0.4646:0.5354	.	.	.	.	X	1912;1912;1901;1884	.	ENSP00000303540:R1912X	R	-	1	2	SCN1A	166556297	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	0.805000	0.27112	0.051000	0.15978	0.555000	0.69702	CGA		0.413	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		53	55	0	0	0	1	0	53	55				
ZRANB2	9406	broad.mit.edu	37	1	71544350	71544350	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr1:71544350C>T	ENST00000370920.3	-	2	399	c.98G>A	c.(97-99)cGa>cAa	p.R33Q	ZRANB2-AS2_ENST00000455406.1_RNA|ZRANB2_ENST00000254821.6_Missense_Mutation_p.R33Q|ZRANB2-AS2_ENST00000596952.1_RNA	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	33					mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						CCGACCACATCGATTACAGCT	0.254																																						ENST00000370920.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						c.(97-99)cGa>cAa		zinc finger, RAN-binding domain containing 2							59.0	63.0	62.0					1																	71544350		2196	4297	6493	SO:0001583	missense	9406				mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:71544350C>T	AF065391	CCDS659.1, CCDS660.1	1p31	2008-02-05	2006-06-28	2006-06-28	ENSG00000132485	ENSG00000132485		"""Zinc fingers, RAN-binding domain containing"""	13058	protein-coding gene	gene with protein product		604347	"""zinc finger protein 265"""	ZNF265		9931435	Standard	NM_005455		Approved	ZIS, ZIS1, ZIS2	uc001dft.3	O95218	OTTHUMG00000009660	ENST00000370920.3:c.98G>A	1.37:g.71544350C>T	ENSP00000359958:p.Arg33Gln					ZRANB2_ENST00000254821.6_Missense_Mutation_p.R33Q	p.R33Q	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN			2	399	-			33					D3DQ75|Q53GS3|Q59F92|Q5VV33|Q5VV34|Q8IXN6|Q9UP63	Missense_Mutation	SNP	ENST00000370920.3	37	c.98G>A	CCDS659.1	.	.	.	.	.	.	.	.	.	.	C	32	5.150145	0.94645	.	.	ENSG00000132485	ENST00000370920;ENST00000254821	T;T	0.56444	0.46;0.46	5.74	5.74	0.90152	Zinc finger, RanBP2-type (4);	0.000000	0.85682	D	0.000000	T	0.63616	0.2526	L	0.58354	1.805	0.58432	D	0.999999	D;D	0.76494	0.997;0.999	D;D	0.70227	0.968;0.928	T	0.57871	-0.7736	10	0.36615	T	0.2	.	19.5216	0.95187	0.0:1.0:0.0:0.0	.	33;33	O95218;O95218-2	ZRAB2_HUMAN;.	Q	33	ENSP00000359958:R33Q;ENSP00000254821:R33Q	ENSP00000254821:R33Q	R	-	2	0	ZRANB2	71316938	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.338000	0.79269	2.723000	0.93209	0.591000	0.81541	CGA		0.254	ZRANB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026636.1	NM_203350		18	94	0	0	0	1	0	18	94				
GPR148	344561	broad.mit.edu	37	2	131487510	131487510	+	Silent	SNP	C	C	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr2:131487510C>A	ENST00000309926.4	+	1	868	c.786C>A	c.(784-786)acC>acA	p.T262T		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CCAGGGGCACCCTGCTGATCC	0.572																																						ENST00000309926.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27						c.(784-786)acC>acA		G protein-coupled receptor 148							134.0	118.0	123.0					2																	131487510		2203	4300	6503	SO:0001819	synonymous_variant	344561					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:131487510C>A	AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"""GPCR / Class A : Orphans"""	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.786C>A	2.37:g.131487510C>A							p.T262T	NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN			1	868	+	Colorectal(110;0.1)		262					Q2M369|Q86SP7|Q86U87	Silent	SNP	ENST00000309926.4	37	c.786C>A	CCDS2163.1																																																																																				0.572	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254552.3	XM_293092		22	68	1	0	3.62473e-10	1	3.99087e-10	22	68				
PRPH	5630	broad.mit.edu	37	12	49691346	49691346	+	Silent	SNP	G	G	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr12:49691346G>A	ENST00000257860.4	+	6	2702	c.1203G>A	c.(1201-1203)gaG>gaA	p.E401E	RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P23942	PRPH2_HUMAN	peripherin	0					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						AGCTGCTGGAGGGCGAGGAGA	0.687																																						ENST00000257860.4																			0				kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						c.(1201-1203)gaG>gaA		peripherin							26.0	29.0	28.0					12																	49691346		2200	4295	6495	SO:0001819	synonymous_variant	5630						structural molecule activity	g.chr12:49691346G>A		CCDS8783.1	12q12-q13	2013-01-16						"""Intermediate filaments type III"""	9461	protein-coding gene	gene with protein product		170710		NEF4		1378416	Standard	XM_005269025		Approved	PRPH1	uc001rtu.3	P41219		ENST00000257860.4:c.1203G>A	12.37:g.49691346G>A						RP11-161H23.9_ENST00000553259.1_RNA	p.E401E	NM_006262.3	NP_006253.2	P41219	PERI_HUMAN			6	2702	+			401			Coil 2.|Rod.		Q5TFH5|Q6DK65	Silent	SNP	ENST00000257860.4	37	c.1203G>A	CCDS8783.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.209211	0.58343	.	.	ENSG00000135406	ENST00000532332	.	.	.	5.48	3.64	0.41730	.	.	.	.	.	T	0.56156	0.1966	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49890	-0.8891	4	.	.	.	.	7.0682	0.25164	0.3509:0.0:0.6491:0.0	.	.	.	.	R	130	.	.	G	+	1	0	PRPH	47977613	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.324000	0.33712	0.654000	0.30846	0.655000	0.94253	GGG		0.687	PRPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393381.1	NM_006262		21	22	0	0	0	1	0	21	22				
KCNG1	3755	broad.mit.edu	37	20	49626377	49626377	+	Missense_Mutation	SNP	G	G	A	rs371897254		TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr20:49626377G>A	ENST00000371571.4	-	2	784	c.499C>T	c.(499-501)Cgc>Tgc	p.R167C	KCNG1_ENST00000396017.3_Missense_Mutation_p.R167C|RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000506387.1_5'Flank	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	167					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						AGGTAGCGGCGCTTGCAGCAG	0.687																																						ENST00000371571.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(499-501)Cgc>Tgc		potassium voltage-gated channel, subfamily G, member 1							39.0	41.0	40.0					20																	49626377		2203	4295	6498	SO:0001583	missense	3755					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:49626377G>A	AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.499C>T	20.37:g.49626377G>A	ENSP00000360626:p.Arg167Cys					KCNG1_ENST00000396017.3_Missense_Mutation_p.R167C|RP5-955M13.4_ENST00000424566.1_RNA	p.R167C	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN			2	784	-			167					A8K3S4|O43528|Q5JXL5|Q9BRC1	Missense_Mutation	SNP	ENST00000371571.4	37	c.499C>T	CCDS13436.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.303677	0.60305	.	.	ENSG00000026559	ENST00000371571;ENST00000396017;ENST00000439216;ENST00000424171	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.65	5.65	0.86999	BTB/POZ-like (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.67581	0.2908	M	0.87547	2.89	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.993	T	0.71800	-0.4483	9	.	.	.	.	12.7673	0.57399	0.0:0.0:0.7266:0.2734	.	167;167	Q9UIX4-2;Q9UIX4	.;KCNG1_HUMAN	C	167	ENSP00000360626:R167C;ENSP00000379338:R167C;ENSP00000394075:R167C;ENSP00000394093:R167C	.	R	-	1	0	KCNG1	49059784	1.000000	0.71417	0.992000	0.48379	0.992000	0.81027	2.738000	0.47401	2.667000	0.90743	0.561000	0.74099	CGC		0.687	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079726.4	NM_002237		5	66	0	0	0	1	0	5	66				
CMYA5	202333	broad.mit.edu	37	5	79032122	79032122	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr5:79032122G>T	ENST00000446378.2	+	2	7565	c.7534G>T	c.(7534-7536)Gct>Tct	p.A2512S		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2512					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAAAGCCGATGCTATGCCACA	0.378																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(7534-7536)Gct>Tct		cardiomyopathy associated 5							64.0	63.0	63.0					5																	79032122		1847	4094	5941	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79032122G>T	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.7534G>T	5.37:g.79032122G>T	ENSP00000394770:p.Ala2512Ser						p.A2512S	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	7565	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	2512					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.7534G>T	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	5.505	0.278182	0.10403	.	.	ENSG00000164309	ENST00000446378	T	0.16743	2.32	5.46	1.34	0.21922	.	0.878081	0.09797	N	0.754527	T	0.10723	0.0262	L	0.41236	1.265	0.09310	N	1	B	0.21381	0.055	B	0.20955	0.032	T	0.42531	-0.9446	10	0.06891	T	0.86	.	3.7102	0.08417	0.3045:0.0:0.5289:0.1665	.	2512	Q8N3K9	CMYA5_HUMAN	S	2512	ENSP00000394770:A2512S	ENSP00000394770:A2512S	A	+	1	0	CMYA5	79067878	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.488000	0.22371	0.045000	0.15804	-0.182000	0.12963	GCT		0.378	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		36	22	1	0	6.19805e-25	1	7.59087e-25	36	22				
UTRN	7402	broad.mit.edu	37	6	144835885	144835885	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr6:144835885C>A	ENST00000367545.3	+	36	5173	c.5173C>A	c.(5173-5175)Ctt>Att	p.L1725I		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1725	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AAGCAGGGAGCTTGTAGAACC	0.428																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(5173-5175)Ctt>Att		utrophin							136.0	137.0	137.0					6																	144835885		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144835885C>A	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.5173C>A	6.37:g.144835885C>A	ENSP00000356515:p.Leu1725Ile						p.L1725I	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	36	5173	+		Ovarian(120;0.218)	1725			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.5173C>A	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.161808	0.78226	.	.	ENSG00000152818	ENST00000367545	T	0.51071	0.72	5.53	5.53	0.82687	.	0.000000	0.43416	D	0.000576	T	0.51975	0.1706	L	0.60455	1.87	0.80722	D	1	D	0.53312	0.959	P	0.56960	0.81	T	0.30446	-0.9978	10	0.23302	T	0.38	.	19.8372	0.96661	0.0:1.0:0.0:0.0	.	1725	P46939	UTRO_HUMAN	I	1725	ENSP00000356515:L1725I	ENSP00000356515:L1725I	L	+	1	0	UTRN	144877578	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.940000	0.56599	2.770000	0.95276	0.655000	0.94253	CTT		0.428	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			59	39	1	0	6.3091e-27	1	7.81468e-27	59	39				
MNT	4335	broad.mit.edu	37	17	2298352	2298352	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr17:2298352A>G	ENST00000174618.4	-	2	875	c.470T>C	c.(469-471)aTt>aCt	p.I157T	MNT_ENST00000575394.1_Intron	NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor	157					cell aging (GO:0007569)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cell cycle (GO:0051726)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		ATTGGGTGGAATGGTGGCCTT	0.692																																						ENST00000174618.4																			0				endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(469-471)aTt>aCt		MAX network transcriptional repressor							29.0	27.0	28.0					17																	2298352		2193	4287	6480	SO:0001583	missense	4335				multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr17:2298352A>G	Y13444	CCDS11018.1	17p13.3	2013-11-15	2013-11-15		ENSG00000070444	ENSG00000070444		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	7188	protein-coding gene	gene with protein product	"""myc antagonist"", ""Max-interacting protein"""	603039	"""MAX binding protein"", ""MNT, MAX dimerization protein"""			9598315	Standard	NM_020310		Approved	ROX, MXD6, MAD6, bHLHd3	uc002fur.3	Q99583	OTTHUMG00000090603	ENST00000174618.4:c.470T>C	17.37:g.2298352A>G	ENSP00000174618:p.Ile157Thr						p.I157T	NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN		Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)	2	875	-			157					A8K6D1|D3DTI7|Q1ED38	Missense_Mutation	SNP	ENST00000174618.4	37	c.470T>C	CCDS11018.1	.	.	.	.	.	.	.	.	.	.	A	7.180	0.589331	0.13812	.	.	ENSG00000070444	ENST00000174618;ENST00000404961	T	0.80033	-1.33	4.59	2.26	0.28386	.	1.448910	0.04638	N	0.404938	T	0.50905	0.1643	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.52442	-0.8575	10	0.09338	T	0.73	1.5439	2.8247	0.05482	0.5795:0.0:0.2202:0.2003	.	157	Q99583	MNT_HUMAN	T	157	ENSP00000174618:I157T	ENSP00000174618:I157T	I	-	2	0	MNT	2245102	0.004000	0.15560	0.002000	0.10522	0.835000	0.47333	1.287000	0.33284	0.704000	0.31869	0.533000	0.62120	ATT		0.692	MNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207158.1	NM_020310		4	4	0	0	0	1	0	4	4				
KMT2D	8085	broad.mit.edu	37	12	49438185	49438185	+	Splice_Site	SNP	C	C	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr12:49438185C>T	ENST00000301067.7	-	20	5083		c.e20+1			NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D						chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CAGGACCTCACCAGGCCGATA	0.587											OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000301067.7																			0											c.e20+1		lysine (K)-specific methyltransferase 2D							95.0	103.0	100.0					12																	49438185		1948	4147	6095	SO:0001630	splice_region_variant	8085							g.chr12:49438185C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.5083+1G>A	12.37:g.49438185C>T			OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	962			NM_003482.3	NP_003473.3					20	5083	-								O14687	Splice_Site	SNP	ENST00000301067.7	37		CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.561153	0.86335	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.456	0.87607	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MLL2	47724452	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.520000	0.81821	2.644000	0.89710	0.655000	0.94253	.		0.587	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		Intron	18	35	0	0	0	1	0	18	35				
INTS4	92105	broad.mit.edu	37	11	77669828	77669828	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr11:77669828T>A	ENST00000534064.1	-	7	795	c.761A>T	c.(760-762)cAg>cTg	p.Q254L	INTS4_ENST00000529807.1_Missense_Mutation_p.Q254L	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	254					snRNA processing (GO:0016180)	integrator complex (GO:0032039)			INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			CCAGATAAGCTGGACTGCAGC	0.473																																						ENST00000534064.1																		INTS4/GAB2(2)	0				NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32						c.(760-762)cAg>cTg		integrator complex subunit 4							57.0	48.0	51.0					11																	77669828		2200	4292	6492	SO:0001583	missense	92105				snRNA processing	integrator complex	protein binding	g.chr11:77669828T>A	BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.761A>T	11.37:g.77669828T>A	ENSP00000434466:p.Gln254Leu					INTS4_ENST00000529807.1_Missense_Mutation_p.Q254L	p.Q254L	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)		7	795	-	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		254					Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Missense_Mutation	SNP	ENST00000534064.1	37	c.761A>T	CCDS31644.1	.	.	.	.	.	.	.	.	.	.	T	14.91	2.675682	0.47781	.	.	ENSG00000149262	ENST00000534064;ENST00000354849;ENST00000529807	T;T	0.32023	2.26;1.47	4.7	3.57	0.40892	Armadillo-like helical (1);Armadillo-type fold (1);	0.266053	0.38548	N	0.001659	T	0.27419	0.0673	L	0.43152	1.355	0.80722	D	1	B	0.30211	0.273	B	0.34038	0.174	T	0.05971	-1.0853	10	0.49607	T	0.09	-3.1337	10.1277	0.42661	0.0:0.0794:0.0:0.9206	.	254	Q96HW7	INT4_HUMAN	L	254;105;254	ENSP00000434466:Q254L;ENSP00000433644:Q254L	ENSP00000346913:Q105L	Q	-	2	0	INTS4	77347476	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.329000	0.59260	0.827000	0.34685	0.454000	0.30748	CAG		0.473	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390927.1	NM_033547		4	6	0	0	0	1	0	4	6				
PTPRB	5787	broad.mit.edu	37	12	70980858	70980858	+	Missense_Mutation	SNP	C	C	A	rs184275696		TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr12:70980858C>A	ENST00000261266.5	-	7	1615	c.1586G>T	c.(1585-1587)cGa>cTa	p.R529L	PTPRB_ENST00000551525.1_Missense_Mutation_p.R746L|PTPRB_ENST00000451516.2_Missense_Mutation_p.R439L|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550358.1_Missense_Mutation_p.R747L|PTPRB_ENST00000550857.1_Missense_Mutation_p.R439L|PTPRB_ENST00000334414.6_Missense_Mutation_p.R747L|PTPRB_ENST00000538708.1_Missense_Mutation_p.R529L	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	529	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CATGTATTTTCGTCCAGGCAC	0.373																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(2239-2241)cGa>cTa		protein tyrosine phosphatase, receptor type, B							121.0	114.0	116.0					12																	70980858		1871	4104	5975	SO:0001583	missense	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70980858C>A	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.1586G>T	12.37:g.70980858C>A	ENSP00000261266:p.Arg529Leu					PTPRB_ENST00000550857.1_Missense_Mutation_p.R439L|PTPRB_ENST00000538708.1_Missense_Mutation_p.R529L|PTPRB_ENST00000261266.5_Missense_Mutation_p.R529L|PTPRB_ENST00000550358.1_Missense_Mutation_p.R747L|PTPRB_ENST00000451516.2_Missense_Mutation_p.R439L|PTPRB_ENST00000551525.1_Missense_Mutation_p.R746L|PTPRB_ENST00000538174.2_5'UTR	p.R747L	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		9	2284	-	Renal(347;0.236)		529			Fibronectin type-III 9.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.2240G>T	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.190921	0.78789	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000544694;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32	5.12	5.12	0.69794	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.068792	0.53938	D	0.000058	T	0.77405	0.4125	M	0.79258	2.445	0.53688	D	0.999979	D;D;D;D;D;D;D	0.76494	0.987;0.987;0.999;0.999;0.994;0.995;0.987	D;D;D;D;D;D;D	0.78314	0.963;0.963;0.991;0.989;0.963;0.97;0.963	T	0.80158	-0.1499	10	0.62326	D	0.03	.	18.5628	0.91107	0.0:1.0:0.0:0.0	.	439;529;626;746;747;529;747	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;PTPRB_HUMAN;.	L	747;439;747;747;529;439;529;746;626	ENSP00000334928:R747L;ENSP00000393028:R439L;ENSP00000448058:R747L;ENSP00000438927:R529L;ENSP00000447302:R439L;ENSP00000261266:R529L;ENSP00000448349:R746L;ENSP00000446982:R626L	ENSP00000261266:R529L	R	-	2	0	PTPRB	69267125	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.273000	0.72581	2.368000	0.80403	0.557000	0.71058	CGA		0.373	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			123	66	1	0	2.53974e-74	1	3.25684e-74	123	66				
MMP11	4320	broad.mit.edu	37	22	24122901	24122901	+	Splice_Site	SNP	G	G	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr22:24122901G>A	ENST00000215743.3	+	4	667	c.615G>A	c.(613-615)caG>caA	p.Q205Q	MMP11_ENST00000477567.1_3'UTR	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	205					basement membrane organization (GO:0071711)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|negative regulation of fat cell differentiation (GO:0045599)|proteolysis (GO:0006508)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)			Marimastat(DB00786)	GGGATGACCAGGGTATGGGCT	0.582																																						ENST00000215743.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27						c.e4+1		matrix metallopeptidase 11 (stromelysin 3)							59.0	59.0	59.0					22																	24122901		2203	4300	6503	SO:0001630	splice_region_variant	4320				collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr22:24122901G>A		CCDS13816.1	22q11.23	2008-06-11	2005-08-08		ENSG00000099953	ENSG00000099953			7157	protein-coding gene	gene with protein product		185261	"""matrix metalloproteinase 11 (stromelysin 3)"""	STMY3		1639418, 7657606, 12006591	Standard	NM_005940		Approved		uc002zxx.3	P24347	OTTHUMG00000150742	ENST00000215743.3:c.616+1G>A	22.37:g.24122901G>A						MMP11_ENST00000477567.1_3'UTR	p.Q205_splice	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN			4	667	+		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)	205					Q5FX24|Q6PEZ6|Q9UC26	Splice_Site	SNP	ENST00000215743.3	37	c.616_splice	CCDS13816.1																																																																																				0.582	MMP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319891.2	NM_005940	Silent	9	18	0	0	0	1	0	9	18				
OPRM1	4988	broad.mit.edu	37	6	154412543	154412543	+	Missense_Mutation	SNP	G	G	A	rs201516315		TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr6:154412543G>A	ENST00000330432.7	+	3	1337	c.1100G>A	c.(1099-1101)cGa>cAa	p.R367Q	OPRM1_ENST00000337049.4_Missense_Mutation_p.R367Q|OPRM1_ENST00000360422.4_Missense_Mutation_p.R367Q|OPRM1_ENST00000520708.1_Missense_Mutation_p.R267Q|OPRM1_ENST00000414028.2_Missense_Mutation_p.R367Q|OPRM1_ENST00000229768.5_Missense_Mutation_p.R367Q|OPRM1_ENST00000524163.1_Missense_Mutation_p.R367Q|OPRM1_ENST00000419506.2_Missense_Mutation_p.R367Q|OPRM1_ENST00000522555.1_Missense_Mutation_p.R267Q|OPRM1_ENST00000435918.2_Missense_Mutation_p.R367Q|OPRM1_ENST00000428397.2_Missense_Mutation_p.R367Q|OPRM1_ENST00000434900.2_Missense_Mutation_p.R460Q|OPRM1_ENST00000452687.2_Missense_Mutation_p.R367Q|OPRM1_ENST00000522236.1_Missense_Mutation_p.R267Q|OPRM1_ENST00000518759.1_Missense_Mutation_p.R286Q	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	367					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)	p.R367L(2)|p.R460L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	AACTCCACTCGAATTCGTCAG	0.443																																						ENST00000414028.2																			3	Substitution - Missense(3)	p.R367L(2)|p.R460L(1)	kidney(3)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(1099-1101)cGa>cAa		opioid receptor, mu 1	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)						59.0	58.0	58.0					6																	154412543		1916	4124	6040	SO:0001583	missense	4988				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	g.chr6:154412543G>A	L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"""GPCR / Class A : Opioid receptors"""	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.1100G>A	6.37:g.154412543G>A	ENSP00000328264:p.Arg367Gln					OPRM1_ENST00000419506.2_Missense_Mutation_p.R367Q|OPRM1_ENST00000520708.1_Missense_Mutation_p.R267Q|OPRM1_ENST00000360422.4_Missense_Mutation_p.R367Q|OPRM1_ENST00000330432.7_Missense_Mutation_p.R367Q|OPRM1_ENST00000524163.1_Missense_Mutation_p.R367Q|OPRM1_ENST00000522236.1_Missense_Mutation_p.R267Q|OPRM1_ENST00000522555.1_Missense_Mutation_p.R267Q|OPRM1_ENST00000229768.5_Missense_Mutation_p.R367Q|OPRM1_ENST00000452687.2_Missense_Mutation_p.R367Q|OPRM1_ENST00000518759.1_Missense_Mutation_p.R286Q|OPRM1_ENST00000435918.2_Missense_Mutation_p.R367Q|OPRM1_ENST00000434900.2_Missense_Mutation_p.R460Q|OPRM1_ENST00000428397.2_Missense_Mutation_p.R367Q|OPRM1_ENST00000337049.4_Missense_Mutation_p.R367Q	p.R367Q	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	3	1150	+		Ovarian(120;0.196)	367					B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Missense_Mutation	SNP	ENST00000330432.7	37	c.1100G>A	CCDS55070.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.889555	0.91889	.	.	ENSG00000112038	ENST00000434900;ENST00000520708;ENST00000518759;ENST00000330432;ENST00000360422;ENST00000428397;ENST00000452687;ENST00000229768;ENST00000419506;ENST00000524163;ENST00000414028;ENST00000435918;ENST00000337049;ENST00000522555;ENST00000522236	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22	6.16	5.3	0.74995	.	0.291378	0.34067	N	0.004299	T	0.53417	0.1795	M	0.77616	2.38	0.48696	D	0.999698	D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;1.0;0.997;0.991;1.0;0.999;1.0;1.0;0.999	D;D;D;D;D;P;P;D;D;D;D;D	0.87578	0.998;0.979;0.985;0.998;0.989;0.862;0.781;0.989;0.966;0.983;0.992;0.979	T	0.61574	-0.7035	10	0.66056	D	0.02	.	15.319	0.74105	0.0662:0.0:0.9338:0.0	.	367;367;367;367;460;286;267;367;367;367;367;367	P35372-4;P35372-8;P35372-11;P35372-9;P35372-10;B8Q1L9;Q6UPP1;P35372-5;P35372;P35372-7;P35372-3;P35372-2	.;.;.;.;.;.;.;.;OPRM_HUMAN;.;.;.	Q	460;267;286;367;367;367;367;367;367;367;367;367;367;267;267	ENSP00000394624:R460Q;ENSP00000430876:R267Q;ENSP00000430260:R286Q;ENSP00000328264:R367Q;ENSP00000353598:R367Q;ENSP00000411903:R367Q;ENSP00000410497:R367Q;ENSP00000229768:R367Q;ENSP00000403549:R367Q;ENSP00000430097:R367Q;ENSP00000399359:R367Q;ENSP00000413752:R367Q;ENSP00000338381:R367Q;ENSP00000429719:R267Q;ENSP00000429373:R267Q	ENSP00000229768:R367Q	R	+	2	0	OPRM1	154454236	1.000000	0.71417	0.991000	0.47740	0.992000	0.81027	6.535000	0.73838	1.626000	0.50381	0.650000	0.86243	CGA		0.443	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2	NM_000914		21	22	0	0	0	1	0	21	22				
ZSWIM8	23053	broad.mit.edu	37	10	75552435	75552435	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr10:75552435C>A	ENST00000605216.1	+	10	2355	c.2138C>A	c.(2137-2139)cCc>cAc	p.P713H	ZSWIM8_ENST00000604729.1_Missense_Mutation_p.P713H|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.P713H|ZSWIM8_ENST00000431225.1_3'UTR|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.P713H|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.P680H	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	713							zinc ion binding (GO:0008270)										AATGGGCTTCCCAAAACCAAA	0.597																																						ENST00000604729.1																			0											c.(2137-2139)cCc>cAc		zinc finger, SWIM-type containing 8							36.0	39.0	38.0					10																	75552435		1971	4161	6132	SO:0001583	missense	23053							g.chr10:75552435C>A	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.2138C>A	10.37:g.75552435C>A	ENSP00000474748:p.Pro713His					ZSWIM8_ENST00000431225.1_3'UTR|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.P713H|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.P713H|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.P713H|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.P680H	p.P713H							10	2435	+								B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	ENST00000605216.1	37	c.2138C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.162|0.162	-1.080636|-1.080636	0.01888|0.01888	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000398706|ENST00000431225	T|.	0.42131|.	0.98|.	5.4|5.4	0.201|0.201	0.15186|0.15186	.|.	0.956507|0.956507	0.08533|0.08533	N|U	0.931689|0.931689	T|T	0.31513|0.31513	0.0799|0.0799	L|L	0.39898|0.39898	1.24|1.24	0.09310|0.09310	N|N	1|1	P;B;P;P|.	0.34546|.	0.456;0.188;0.456;0.456|.	B;B;B;B|.	0.34242|.	0.178;0.115;0.178;0.178|.	T|T	0.32877|0.32877	-0.9890|-0.9890	10|7	0.12766|0.19147	T|T	0.61|0.46	-0.6303|-0.6303	4.7746|4.7746	0.13173|0.13173	0.1509:0.3617:0.0:0.4875|0.1509:0.3617:0.0:0.4875	.|.	713;713;713;713|.	A7E2V4;A7E2V4-3;A7E2V4-5;A7E2V4-4|.	K0913_HUMAN;.;.;.|.	H|T	713|210	ENSP00000381693:P713H|.	ENSP00000381693:P713H|ENSP00000403509:P210T	P|P	+|+	2|1	0|0	KIAA0913|KIAA0913	75222441|75222441	0.087000|0.087000	0.21565|0.21565	0.139000|0.139000	0.22197|0.22197	0.323000|0.323000	0.28346|0.28346	1.064000|1.064000	0.30579|0.30579	0.107000|0.107000	0.17824|0.17824	-0.793000|-0.793000	0.03317|0.03317	CCC|CCA		0.597	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		19	21	1	0	1.15919e-05	1	1.23874e-05	19	21				
USF1	7391	broad.mit.edu	37	1	161012652	161012652	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr1:161012652G>A	ENST00000368021.3	-	3	233	c.29C>T	c.(28-30)aCg>aTg	p.T10M	USF1_ENST00000368019.1_Missense_Mutation_p.T10M|USF1_ENST00000368020.1_Missense_Mutation_p.T10M|USF1_ENST00000435396.1_De_novo_Start_OutOfFrame	NM_007122.3	NP_009053.1	P22415	USF1_HUMAN	upstream transcription factor 1	10					carbon catabolite regulation of transcription (GO:0045990)|cellular response to insulin stimulus (GO:0032869)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|late viral transcription (GO:0019086)|lipid homeostasis (GO:0055088)|negative regulation of fibrinolysis (GO:0051918)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter by glucose (GO:0000430)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CCCCTCTTCCGTTTCAGCTGT	0.493																																						ENST00000435396.1																			0				central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9								upstream transcription factor 1							199.0	181.0	187.0					1																	161012652		2203	4300	6503	SO:0001583	missense	7391				cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr1:161012652G>A	BC035505	CCDS1214.1	1q22-q23	2013-05-21			ENSG00000158773	ENSG00000158773		"""Basic helix-loop-helix proteins"""	12593	protein-coding gene	gene with protein product		191523				8486371	Standard	NM_007122		Approved	UEF, MLTFI, bHLHb11	uc031pqv.1	P22415	OTTHUMG00000031472	ENST00000368021.3:c.29C>T	1.37:g.161012652G>A	ENSP00000357000:p.Thr10Met					USF1_ENST00000368020.1_Missense_Mutation_p.T10M|USF1_ENST00000368019.1_Missense_Mutation_p.T10M|USF1_ENST00000368021.3_Missense_Mutation_p.T10M		NM_207005.1	NP_996888.1	P22415	USF1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00122)		0	223	-	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)							B2RBZ4|Q5SY46|Q7Z5Y1	Translation_Start_Site	SNP	ENST00000368021.3	37		CCDS1214.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.615302	0.28801	.	.	ENSG00000158773	ENST00000368020;ENST00000368021;ENST00000368019;ENST00000531842	D;D;D;D	0.93859	-3.3;-3.3;-3.28;-2.82	5.01	4.09	0.47781	.	0.174247	0.51477	D	0.000092	D	0.83788	0.5330	L	0.36672	1.1	0.80722	D	1	P	0.46912	0.886	B	0.38712	0.28	D	0.84635	0.0692	10	0.48119	T	0.1	-5.6144	12.4806	0.55839	0.0:0.0:0.8315:0.1685	.	10	P22415	USF1_HUMAN	M	10	ENSP00000356999:T10M;ENSP00000357000:T10M;ENSP00000356998:T10M;ENSP00000435005:T10M	ENSP00000356998:T10M	T	-	2	0	USF1	159279276	1.000000	0.71417	0.839000	0.33178	0.964000	0.63967	5.587000	0.67510	1.300000	0.44818	0.655000	0.94253	ACG		0.493	USF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077050.1	NM_007122		20	108	0	0	0	1	0	20	108				
UNC13C	440279	broad.mit.edu	37	15	54626011	54626011	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr15:54626011C>T	ENST00000260323.11	+	15	4541	c.4541C>T	c.(4540-4542)tCa>tTa	p.S1514L	UNC13C_ENST00000537900.1_Missense_Mutation_p.S1512L|UNC13C_ENST00000545554.1_Missense_Mutation_p.S1514L	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1514					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GACCTGAAATCAACTGTTGAC	0.363																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(4540-4542)tCa>tTa		unc-13 homolog C (C. elegans)							143.0	133.0	136.0					15																	54626011		1856	4087	5943	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54626011C>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.4541C>T	15.37:g.54626011C>T	ENSP00000260323:p.Ser1514Leu					UNC13C_ENST00000260323.11_Missense_Mutation_p.S1514L|UNC13C_ENST00000537900.1_Missense_Mutation_p.S1512L	p.S1514L			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	15	4541	+			1514					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.4541C>T	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.007048	0.93287	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.81415	-1.49;-1.49;-1.49	5.66	5.66	0.87406	.	0.134476	0.52532	D	0.000073	D	0.89649	0.6776	M	0.77820	2.39	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.78314	0.986;0.991	D	0.89026	0.3438	10	0.48119	T	0.1	.	17.5932	0.88003	0.0:1.0:0.0:0.0	.	1514;1514	F5H090;Q8NB66	.;UN13C_HUMAN	L	1514;1514;1512	ENSP00000260323:S1514L;ENSP00000438156:S1514L;ENSP00000442569:S1512L	ENSP00000260323:S1514L	S	+	2	0	UNC13C	52413303	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.595000	0.82710	2.826000	0.97356	0.655000	0.94253	TCA		0.363	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		12	7	0	0	0	1	0	12	7				
NLRP12	91662	broad.mit.edu	37	19	54313275	54313275	+	Silent	SNP	G	G	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr19:54313275G>A	ENST00000324134.6	-	3	1806	c.1638C>T	c.(1636-1638)acC>acT	p.T546T	NLRP12_ENST00000535162.1_Silent_p.T546T|NLRP12_ENST00000354278.3_Silent_p.T546T|NLRP12_ENST00000345770.5_Silent_p.T546T|NLRP12_ENST00000351894.4_Silent_p.T546T|NLRP12_ENST00000391772.1_Silent_p.T546T|NLRP12_ENST00000391773.1_Silent_p.T546T|NLRP12_ENST00000391775.3_Silent_p.T546T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	546					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		ACGCGTACTCGGTCAACAGCC	0.567																																						ENST00000324134.6																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(1636-1638)acC>acT		NLR family, pyrin domain containing 12							98.0	92.0	94.0					19																	54313275		2203	4300	6503	SO:0001819	synonymous_variant	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54313275G>A	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.1638C>T	19.37:g.54313275G>A						NLRP12_ENST00000391775.3_Silent_p.T546T|NLRP12_ENST00000391772.1_Silent_p.T546T|NLRP12_ENST00000391773.1_Silent_p.T546T|NLRP12_ENST00000535162.1_Silent_p.T546T|NLRP12_ENST00000354278.3_Silent_p.T546T|NLRP12_ENST00000345770.5_Silent_p.T546T|NLRP12_ENST00000351894.4_Silent_p.T546T	p.T546T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	1806	-	Ovarian(34;0.19)		546					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	ENST00000324134.6	37	c.1638C>T	CCDS12864.1																																																																																				0.567	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		29	83	0	0	0	1	0	29	83				
RHOT2	89941	broad.mit.edu	37	16	721934	721934	+	Silent	SNP	C	C	G			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr16:721934C>G	ENST00000315082.4	+	13	1143	c.1029C>G	c.(1027-1029)ccC>ccG	p.P343P		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	343					cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				CCTGGGGCCCCGAGCTCCCAC	0.682																																						ENST00000315082.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13						c.(1027-1029)ccC>ccG		ras homolog family member T2							50.0	62.0	58.0					16																	721934		2200	4294	6494	SO:0001819	synonymous_variant	89941				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr16:721934C>G	BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"""EF-hand domain containing"""	21169	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 2"""	613889	"""chromosome 16 open reading frame 39"", ""ras homolog gene family, member T2"""	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.1029C>G	16.37:g.721934C>G							p.P343P	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN			13	1143	+		Hepatocellular(780;0.0218)	343					A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Silent	SNP	ENST00000315082.4	37	c.1029C>G	CCDS10417.1																																																																																				0.682	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1	NM_138769		41	64	0	0	0	1	0	41	64				
PRPF38B	55119	broad.mit.edu	37	1	109241984	109241984	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr1:109241984G>A	ENST00000370025.4	+	6	1252	c.983G>A	c.(982-984)aGg>aAg	p.R328K	PRPF38B_ENST00000370021.1_Missense_Mutation_p.R217K	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	328	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		TTAGAACGCAGGCGCAGCAGA	0.498																																						ENST00000370021.1																			0				NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19						c.(649-651)aGg>aAg		pre-mRNA processing factor 38B							82.0	80.0	80.0					1																	109241984		2203	4300	6503	SO:0001583	missense	55119				mRNA processing|RNA splicing	spliceosomal complex		g.chr1:109241984G>A	AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186			25512	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing B"""				Standard	NM_018061		Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	ENST00000370025.4:c.983G>A	1.37:g.109241984G>A	ENSP00000359042:p.Arg328Lys					PRPF38B_ENST00000370025.4_Missense_Mutation_p.R328K	p.R217K			Q5VTL8	PR38B_HUMAN		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)	7	1287	+		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	328					Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Missense_Mutation	SNP	ENST00000370025.4	37	c.650G>A	CCDS788.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.052709	0.36181	.	.	ENSG00000134186	ENST00000370025;ENST00000370021	T;T	0.13420	4.12;2.59	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.02418	0.0074	N	0.08118	0	0.42869	D	0.994138	B	0.09022	0.002	B	0.09377	0.004	T	0.39981	-0.9587	10	0.09084	T	0.74	.	13.0649	0.59028	0.0735:0.0:0.9265:0.0	.	328	Q5VTL8	PR38B_HUMAN	K	328;217	ENSP00000359042:R328K;ENSP00000359038:R217K	ENSP00000359038:R217K	R	+	2	0	PRPF38B	109043507	1.000000	0.71417	0.991000	0.47740	0.554000	0.35429	5.106000	0.64597	2.698000	0.92095	0.591000	0.81541	AGG		0.498	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030231.1	NM_018061		6	95	0	0	0	1	0	6	95				
LOXL2	4017	broad.mit.edu	37	8	23243467	23243467	+	Intron	SNP	G	G	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr8:23243467G>A	ENST00000389131.3	-	2	287				ENTPD4_ENST00000356206.6_Missense_Mutation_p.H564Y	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2						aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		cattgcaagtgtttggtggcc	0.448																																						ENST00000356206.6																			0				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.(1690-1692)Cac>Tac		ectonucleoside triphosphate diphosphohydrolase 4							113.0	103.0	106.0					8																	23243467		876	1991	2867	SO:0001627	intron_variant	9583				UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity	g.chr8:23243467G>A	U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.83-17520C>T	8.37:g.23243467G>A						LOXL2_ENST00000389131.3_Intron	p.H564Y			Q9Y227	ENTP4_HUMAN		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)	13	1925	-		Prostate(55;0.114)	0					B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Missense_Mutation	SNP	ENST00000389131.3	37	c.1690C>T	CCDS34864.1	.	.	.	.	.	.	.	.	.	.	G	7.047	0.563746	0.13498	.	.	ENSG00000197217	ENST00000518471;ENST00000356206	T;T	0.35605	1.3;2.54	1.17	0.265	0.15612	.	.	.	.	.	T	0.17704	0.0425	.	.	.	0.09310	N	1	P	0.38110	0.618	B	0.23018	0.043	T	0.13282	-1.0515	8	0.54805	T	0.06	.	3.4942	0.07649	0.274:0.0:0.726:0.0	.	564	Q8NE73	.	Y	207;564	ENSP00000430579:H207Y;ENSP00000348536:H564Y	ENSP00000348536:H564Y	H	-	1	0	ENTPD4	23299412	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	0.283000	0.18846	0.087000	0.17167	-0.258000	0.10820	CAC		0.448	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			10	55	0	0	0	1	0	10	55				
UBQLN4	56893	broad.mit.edu	37	1	156020253	156020253	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr1:156020253C>T	ENST00000368309.3	-	4	662	c.570G>A	c.(568-570)atG>atA	p.M190I	UBQLN4_ENST00000472638.1_Intron	NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	190					regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|polyubiquitin binding (GO:0031593)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					CAGGATTGGACATCAGCTGCC	0.577																																						ENST00000368309.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16						c.(568-570)atG>atA		ubiquilin 4							93.0	89.0	90.0					1																	156020253		2203	4300	6503	SO:0001583	missense	56893					cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding	g.chr1:156020253C>T	BC018403	CCDS1127.1	1q21	2013-02-12	2004-11-05	2004-11-06	ENSG00000160803	ENSG00000160803		"""Ubiquilin family"""	1237	protein-coding gene	gene with protein product	"""ataxin-1 ubiquitin-like interacting protein"""	605440	"""chromosome 1 open reading frame 6"""	C1orf6		10575211, 11001934	Standard	NM_020131		Approved	A1U, UBIN	uc001fna.3	Q9NRR5	OTTHUMG00000017461	ENST00000368309.3:c.570G>A	1.37:g.156020253C>T	ENSP00000357292:p.Met190Ile					UBQLN4_ENST00000472638.1_Intron|UBQLN4_ENST00000368307.1_Intron	p.M190I	NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN			4	662	-	Hepatocellular(266;0.133)|all_neural(408;0.195)		190					A6ND44|B2RAY7|Q5VYA0|Q5VYA1|Q9BR98|Q9UHX4	Missense_Mutation	SNP	ENST00000368309.3	37	c.570G>A	CCDS1127.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.646450	0.67358	.	.	ENSG00000160803	ENST00000368309	D	0.83992	-1.79	4.38	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.75939	0.3918	L	0.38175	1.15	0.80722	D	1	P;P	0.42483	0.781;0.781	P;B	0.47162	0.54;0.358	T	0.79553	-0.1756	10	0.52906	T	0.07	-43.9119	15.7039	0.77563	0.0:1.0:0.0:0.0	.	170;190	B4DZF6;Q9NRR5	.;UBQL4_HUMAN	I	190	ENSP00000357292:M190I	ENSP00000357292:M190I	M	-	3	0	UBQLN4	154286877	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.643000	0.83403	2.280000	0.76307	0.555000	0.69702	ATG		0.577	UBQLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046193.1	NM_020131		33	61	0	0	0	1	0	33	61				
ANAPC4	29945	broad.mit.edu	37	4	25395956	25395956	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr4:25395956C>A	ENST00000315368.3	+	12	1043	c.901C>A	c.(901-903)Caa>Aaa	p.Q301K	ANAPC4_ENST00000510092.1_Missense_Mutation_p.Q301K	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	301					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				CACATCAGTGCAAGATGAGTT	0.294																																						ENST00000315368.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27						c.(901-903)Caa>Aaa		anaphase promoting complex subunit 4							63.0	66.0	65.0					4																	25395956		2203	4300	6503	SO:0001583	missense	29945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr4:25395956C>A	AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"""Anaphase promoting complex subunits"""	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.901C>A	4.37:g.25395956C>A	ENSP00000318775:p.Gln301Lys					ANAPC4_ENST00000510092.1_Missense_Mutation_p.Q301K	p.Q301K	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN			12	1043	+		Breast(46;0.0503)	301					A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Missense_Mutation	SNP	ENST00000315368.3	37	c.901C>A	CCDS3434.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342813	0.82022	.	.	ENSG00000053900	ENST00000315368;ENST00000510092	T;T	0.32023	1.47;1.47	5.83	5.83	0.93111	Anaphase-promoting complex subunit 4 long domain (1);	0.000000	0.85682	D	0.000000	T	0.34658	0.0905	L	0.44542	1.39	0.80722	D	1	P;D;P	0.63880	0.874;0.993;0.811	B;P;B	0.49799	0.365;0.622;0.424	T	0.04781	-1.0927	10	0.06236	T	0.91	-6.2146	20.127	0.97984	0.0:1.0:0.0:0.0	.	301;301;301	Q9UJX5-2;E9PCR4;Q9UJX5	.;.;APC4_HUMAN	K	301	ENSP00000318775:Q301K;ENSP00000426654:Q301K	ENSP00000318775:Q301K	Q	+	1	0	ANAPC4	25005054	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.552000	0.67281	2.775000	0.95449	0.585000	0.79938	CAA		0.294	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	NM_013367		21	18	1	0	1.42536e-11	1	1.63541e-11	21	18				
MUC2	4583	broad.mit.edu	37	11	1094728	1094728	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr11:1094728C>T	ENST00000441003.2	+	31	5843	c.5816C>T	c.(5815-5817)aCg>aTg	p.T1939M	MUC2_ENST00000361558.6_Missense_Mutation_p.T77M|MUC2_ENST00000333592.6_Missense_Mutation_p.T227M	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4301					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ACTGTGCAGACGACCACCACC	0.637																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(5815-5817)aCg>aTg		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						110.0	131.0	124.0					11																	1094728		2100	4228	6328	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1094728C>T	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5816C>T	11.37:g.1094728C>T	ENSP00000415183:p.Thr1939Met					MUC2_ENST00000333592.6_Missense_Mutation_p.T227M|MUC2_ENST00000361558.6_Missense_Mutation_p.T77M	p.T1939M	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	5843	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	1970					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.5816C>T		.	.	.	.	.	.	.	.	.	.	c	11.73	1.727216	0.30593	.	.	ENSG00000198788	ENST00000441003;ENST00000361558;ENST00000333592	T;T;T	0.50548	2.62;0.74;2.98	1.74	1.74	0.24563	.	.	.	.	.	T	0.39759	0.1090	L	0.58101	1.795	0.09310	N	1	D	0.60575	0.988	B	0.39339	0.297	T	0.32348	-0.9910	9	0.59425	D	0.04	.	8.3718	0.32419	0.0:1.0:0.0:0.0	.	1939	E7EUV1	.	M	1939;77;227	ENSP00000415183:T1939M;ENSP00000354885:T77M;ENSP00000331373:T227M	ENSP00000331373:T227M	T	+	2	0	MUC2	1084728	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.326000	0.07965	0.965000	0.38133	0.479000	0.44913	ACG		0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		14	38	0	0	0	1	0	14	38				
ETAA1	54465	broad.mit.edu	37	2	67631109	67631109	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr2:67631109C>T	ENST00000272342.5	+	5	1425	c.1295C>T	c.(1294-1296)aCa>aTa	p.T432I	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	432						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						AGAGCAAATACAAGTCCAGAT	0.328																																						ENST00000272342.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						c.(1294-1296)aCa>aTa		Ewing tumor-associated antigen 1							44.0	48.0	47.0					2																	67631109		2198	4297	6495	SO:0001583	missense	54465					cytoplasm|nucleus		g.chr2:67631109C>T	AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"""Ewing's tumor-associated antigen 1"""			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.1295C>T	2.37:g.67631109C>T	ENSP00000272342:p.Thr432Ile					ETAA1_ENST00000462772.1_Intron	p.T432I	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN			5	1425	+			432					Q05BT7|Q53SC4	Missense_Mutation	SNP	ENST00000272342.5	37	c.1295C>T	CCDS1882.1	.	.	.	.	.	.	.	.	.	.	C	2.780	-0.253708	0.05829	.	.	ENSG00000143971	ENST00000272342	T	0.18657	2.2	5.88	-3.94	0.04130	.	1.165850	0.06123	N	0.669210	T	0.12646	0.0307	L	0.44542	1.39	0.09310	N	1	B	0.21225	0.053	B	0.18561	0.022	T	0.34129	-0.9841	10	0.17832	T	0.49	-38.1009	0.4253	0.00463	0.2478:0.2649:0.2441:0.2432	.	432	Q9NY74	ETAA1_HUMAN	I	432	ENSP00000272342:T432I	ENSP00000272342:T432I	T	+	2	0	ETAA1	67484613	0.000000	0.05858	0.000000	0.03702	0.495000	0.33615	-2.509000	0.00960	-0.631000	0.05560	0.655000	0.94253	ACA		0.328	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002		15	42	0	0	0	1	0	15	42				
CLIP3	25999	broad.mit.edu	37	19	36507075	36507075	+	Silent	SNP	C	C	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr19:36507075C>T	ENST00000360535.4	-	14	1856	c.1629G>A	c.(1627-1629)gcG>gcA	p.A543A	ALKBH6_ENST00000486389.1_5'Flank|AC002116.7_ENST00000586962.1_RNA|ALKBH6_ENST00000485128.1_5'Flank|ALKBH6_ENST00000252984.7_5'Flank|ALKBH6_ENST00000378875.3_5'Flank|ALKBH6_ENST00000495116.2_5'Flank|AC002116.8_ENST00000473572.2_RNA|CLIP3_ENST00000593074.1_Silent_p.A543A	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	543	GoLD.				chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ACTGCATCTCCGCCCTCAGCA	0.592																																						ENST00000360535.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23						c.(1627-1629)gcG>gcA		CAP-GLY domain containing linker protein 3							108.0	86.0	94.0					19																	36507075		2203	4300	6503	SO:0001819	synonymous_variant	25999				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding	g.chr19:36507075C>T	AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"""Ankyrin repeat domain containing"""	24314	protein-coding gene	gene with protein product	"""CLIP-170-related"", ""restin-like 1"""	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.1629G>A	19.37:g.36507075C>T						CLIP3_ENST00000593074.1_Silent_p.A543A|AC002116.7_ENST00000586962.1_RNA	p.A543A	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		14	1856	-	Esophageal squamous(110;0.162)		543			GoLD.		A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Silent	SNP	ENST00000360535.4	37	c.1629G>A	CCDS12486.1																																																																																				0.592	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457426.1	NM_015526		6	21	0	0	0	1	0	6	21				
HECTD4	283450	broad.mit.edu	37	12	112690230	112690230	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr12:112690230G>C	ENST00000430131.2	-	22	3429	c.2284C>G	c.(2284-2286)Cag>Gag	p.Q762E	HECTD4_ENST00000377560.5_Missense_Mutation_p.Q1012E|HECTD4_ENST00000550722.1_Missense_Mutation_p.Q1038E			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	762					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TCAAGTACCTGAGCGCGAACT	0.458																																						ENST00000550722.1																			0											c.(3112-3114)Cag>Gag		HECT domain containing E3 ubiquitin protein ligase 4							152.0	142.0	145.0					12																	112690230		2203	4300	6503	SO:0001583	missense	283450							g.chr12:112690230G>C	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.2284C>G	12.37:g.112690230G>C	ENSP00000404379:p.Gln762Glu					HECTD4_ENST00000377560.5_Missense_Mutation_p.Q1012E|HECTD4_ENST00000430131.2_Missense_Mutation_p.Q762E	p.Q1038E	NM_001109662.3	NP_001103132.3					23	3507	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.3112C>G		.	.	.	.	.	.	.	.	.	.	G	20.7	4.029683	0.75504	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.49432	0.78;0.78;0.83	5.72	5.72	0.89469	.	0.058196	0.64402	D	0.000001	T	0.51890	0.1701	N	0.24115	0.695	0.54753	D	0.999984	P;P;P	0.43578	0.811;0.713;0.811	P;P;P	0.54924	0.764;0.68;0.764	T	0.44498	-0.9324	10	0.36615	T	0.2	.	18.8571	0.92257	0.0:0.0:1.0:0.0	.	762;762;752	Q9Y4D8-2;Q9Y4D8;Q9Y4D8-3	.;K0614_HUMAN;.	E	1012;762;1038	ENSP00000366783:Q1012E;ENSP00000404379:Q762E;ENSP00000449784:Q1038E	ENSP00000366783:Q1012E	Q	-	1	0	C12orf51	111174613	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.441000	0.97557	2.709000	0.92574	0.591000	0.81541	CAG		0.458	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		37	29	0	0	0	1	0	37	29				
RYR3	6263	broad.mit.edu	37	15	34080543	34080543	+	Silent	SNP	C	C	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr15:34080543C>T	ENST00000389232.4	+	67	9784	c.9714C>T	c.(9712-9714)gcC>gcT	p.A3238A	RYR3_ENST00000415757.3_Silent_p.A3238A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3238					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGTTGAAAGCCGATGGCAAAG	0.567																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(9712-9714)gcC>gcT		ryanodine receptor 3							106.0	112.0	110.0					15																	34080543		2042	4189	6231	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34080543C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.9714C>T	15.37:g.34080543C>T						RYR3_ENST00000415757.3_Silent_p.A3238A	p.A3238A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	67	9784	+		all_lung(180;7.18e-09)	3238					O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.9714C>T	CCDS45210.1																																																																																				0.567	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			8	109	0	0	0	1	0	8	109				
ANKFY1	51479	broad.mit.edu	37	17	4080459	4080459	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr17:4080459C>T	ENST00000341657.4	-	19	2772	c.2737G>A	c.(2737-2739)Gct>Act	p.A913T	ANKFY1_ENST00000570535.1_Missense_Mutation_p.A955T|ANKFY1_ENST00000574367.1_Missense_Mutation_p.A914T|CYB5D2_ENST00000573984.1_Intron	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	913				A -> V (in Ref. 1; BAA90300). {ECO:0000305}.	endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GCTTGGACAGCGAGGTGCAGG	0.438																																						ENST00000341657.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2737-2739)Gct>Act		ankyrin repeat and FYVE domain containing 1							95.0	93.0	94.0					17																	4080459		1978	4180	6158	SO:0001583	missense	51479					endosome membrane	metal ion binding|protein binding	g.chr17:4080459C>T	AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"""Zinc fingers, FYVE domain containing"", ""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.2737G>A	17.37:g.4080459C>T	ENSP00000343362:p.Ala913Thr					CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000574367.1_Missense_Mutation_p.A914T|ANKFY1_ENST00000570535.1_Missense_Mutation_p.A955T	p.A913T	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN			19	2772	-			913	A -> V (in Ref. 1; BAA90300).				A8KA65|Q5RKV4|Q9ULG5	Missense_Mutation	SNP	ENST00000341657.4	37	c.2737G>A		.	.	.	.	.	.	.	.	.	.	C	26.2	4.719322	0.89205	.	.	ENSG00000185722	ENST00000341657;ENST00000535427	.	.	.	5.95	4.98	0.66077	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.86251	0.5888	M	0.93550	3.43	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.999;0.998;0.998	D	0.90163	0.4229	9	0.87932	D	0	-14.3415	15.7806	0.78257	0.1371:0.8628:0.0:0.0	.	855;913;914;955	F5H754;Q9P2R3;Q9P2R3-2;Q9P2R3-4	.;ANFY1_HUMAN;.;.	T	914;855	.	ENSP00000343362:A914T	A	-	1	0	ANKFY1	4027208	1.000000	0.71417	0.994000	0.49952	0.663000	0.39108	6.087000	0.71362	1.524000	0.49035	-0.261000	0.10672	GCT		0.438	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000438702.1	NM_016376		6	85	0	0	0	1	0	6	85				
CACNA1C	775	broad.mit.edu	37	12	2714952	2714952	+	Splice_Site	SNP	G	G	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr12:2714952G>A	ENST00000347598.4	+	25	3216	c.3216G>A	c.(3214-3216)aaG>aaA	p.K1072K	CACNA1C_ENST00000399603.1_Splice_Site_p.K1052K|CACNA1C_ENST00000399655.1_Splice_Site_p.K1052K|CACNA1C_ENST00000399634.1_Splice_Site_p.K1052K|CACNA1C_ENST00000402845.3_Splice_Site_p.K1052K|CACNA1C_ENST00000327702.7_Splice_Site_p.K1052K|CACNA1C_ENST00000399617.1_Splice_Site_p.K1052K|CACNA1C_ENST00000399606.1_Splice_Site_p.K1072K|CACNA1C_ENST00000399649.1_Splice_Site_p.K1052K|CACNA1C_ENST00000335762.5_Splice_Site_p.K1077K|CACNA1C_ENST00000406454.3_Splice_Site_p.K1052K|CACNA1C_ENST00000480911.1_Splice_Site_p.K1052K|CACNA1C_ENST00000399644.1_Splice_Site_p.K1052K|CACNA1C_ENST00000399641.1_Splice_Site_p.K1052K|CACNA1C_ENST00000344100.3_Splice_Site_p.K1052K|CACNA1C-AS3_ENST00000543559.1_RNA|CACNA1C_ENST00000399591.1_Splice_Site_p.K1052K|CACNA1C_ENST00000399601.1_Splice_Site_p.K1052K|CACNA1C_ENST00000399595.1_Splice_Site_p.K1052K|CACNA1C_ENST00000399621.1_Splice_Site_p.K1052K|CACNA1C_ENST00000399597.1_Splice_Site_p.K1052K|CACNA1C_ENST00000399637.1_Splice_Site_p.K1052K|CACNA1C_ENST00000399638.1_Splice_Site_p.K1052K|CACNA1C_ENST00000399629.1_Splice_Site_p.K1052K	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1072				K -> Q (in Ref. 3; Z26272). {ECO:0000305}.	adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AGCTCTTCAAGGTAAAGTCTG	0.542																																						ENST00000399655.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.e24+1		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						133.0	128.0	130.0					12																	2714952		2203	4300	6503	SO:0001630	splice_region_variant	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2714952G>A	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.3216+1G>A	12.37:g.2714952G>A						CACNA1C_ENST00000399591.1_Splice_Site_p.K1052_splice|CACNA1C_ENST00000399617.1_Splice_Site_p.K1052_splice|CACNA1C_ENST00000335762.5_Splice_Site_p.K1077_splice|CACNA1C-AS3_ENST00000543559.1_RNA|CACNA1C_ENST00000399641.1_Splice_Site_p.K1052_splice|CACNA1C_ENST00000327702.7_Splice_Site_p.K1052_splice|CACNA1C_ENST00000399621.1_Splice_Site_p.K1052_splice|CACNA1C_ENST00000399629.1_Splice_Site_p.K1052_splice|CACNA1C_ENST00000399595.1_Splice_Site_p.K1052_splice|CACNA1C_ENST00000344100.3_Splice_Site_p.K1052_splice|CACNA1C_ENST00000399634.1_Splice_Site_p.K1052_splice|CACNA1C_ENST00000399601.1_Splice_Site_p.K1052_splice|CACNA1C_ENST00000347598.4_Splice_Site_p.K1072_splice|CACNA1C_ENST00000399637.1_Splice_Site_p.K1052_splice|CACNA1C_ENST00000399606.1_Splice_Site_p.K1072_splice|CACNA1C_ENST00000402845.3_Splice_Site_p.K1052_splice|CACNA1C_ENST00000480911.1_Splice_Site_p.K1052_splice|CACNA1C_ENST00000399597.1_Splice_Site_p.K1052_splice|CACNA1C_ENST00000399649.1_Splice_Site_p.K1052_splice|CACNA1C_ENST00000406454.3_Splice_Site_p.K1052_splice|CACNA1C_ENST00000399644.1_Splice_Site_p.K1052_splice|CACNA1C_ENST00000399603.1_Splice_Site_p.K1052_splice|CACNA1C_ENST00000399638.1_Splice_Site_p.K1052_splice	p.K1052_splice	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	24	3421	+			1072					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Splice_Site	SNP	ENST00000347598.4	37	c.3156_splice	CCDS44788.1																																																																																				0.542	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719	Silent	48	47	0	0	0	1	0	48	47				
LTB4R	1241	broad.mit.edu	37	14	24784885	24784885	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr14:24784885C>A	ENST00000396789.4	+	2	1753	c.28C>A	c.(28-30)Ccc>Acc	p.P10T	LTB4R_ENST00000396782.2_Missense_Mutation_p.P10T|LTB4R_ENST00000345363.3_Missense_Mutation_p.P10T	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	10					cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|muscle contraction (GO:0006936)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	leukotriene B4 receptor activity (GO:0001632)|leukotriene receptor activity (GO:0004974)|nucleotide binding (GO:0000166)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		TGCAGCACCCCCCTCACTAGG	0.582																																						ENST00000396789.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8						c.(28-30)Ccc>Acc		leukotriene B4 receptor							149.0	117.0	128.0					14																	24784885		2203	4300	6503	SO:0001583	missense	1241				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding	g.chr14:24784885C>A	X98356	CCDS9626.1	14q11.2-q12	2012-08-10			ENSG00000213903	ENSG00000213903		"""GPCR / Class A : Leukotriene receptors"""	6713	protein-coding gene	gene with protein product		601531		P2RY7, GPR16, CMKRL1		8921391, 8702478	Standard	NM_181657		Approved	BLTR, P2Y7, LTB4R1	uc001wos.3	Q15722	OTTHUMG00000029346	ENST00000396789.4:c.28C>A	14.37:g.24784885C>A	ENSP00000380008:p.Pro10Thr					LTB4R_ENST00000345363.3_Missense_Mutation_p.P10T|LTB4R_ENST00000396782.2_Missense_Mutation_p.P10T	p.P10T	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	2	1753	+			10					Q13305|Q53XV5|Q92641|Q9BSU5	Missense_Mutation	SNP	ENST00000396789.4	37	c.28C>A	CCDS9626.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.977589	0.34848	.	.	ENSG00000213903	ENST00000553481;ENST00000345363;ENST00000396789;ENST00000396782	T;T;T;T	0.69806	2.25;-0.43;-0.43;-0.43	5.92	-11.8	0.00035	.	0.584932	0.15567	U	0.255627	T	0.28995	0.0720	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06935	-1.0799	10	0.35671	T	0.21	.	2.1004	0.03678	0.2856:0.3636:0.174:0.1767	.	10	Q15722	LT4R1_HUMAN	T	10	ENSP00000450457:P10T;ENSP00000307445:P10T;ENSP00000380008:P10T;ENSP00000380002:P10T	ENSP00000307445:P10T	P	+	1	0	LTB4R	23854725	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.782000	0.00772	-2.402000	0.00577	-1.271000	0.01417	CCC		0.582	LTB4R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073198.4			16	117	1	0	4.75885e-15	1	5.6382e-15	16	117				
D2HGDH	728294	broad.mit.edu	37	2	242689679	242689679	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr2:242689679C>T	ENST00000321264.4	+	7	1176	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C	D2HGDH_ENST00000486953.1_3'UTR|D2HGDH_ENST00000403782.1_Missense_Mutation_p.R189C	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	323					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|response to cobalt ion (GO:0032025)|response to manganese ion (GO:0010042)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-2-hydroxyglutarate dehydrogenase activity (GO:0051990)|flavin adenine dinucleotide binding (GO:0050660)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		GCTGGTCGGGCGCCATCTCCA	0.622																																						ENST00000321264.4																			0				breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16						c.(967-969)Cgc>Tgc		D-2-hydroxyglutarate dehydrogenase							80.0	74.0	76.0					2																	242689679		2203	4296	6499	SO:0001583	missense	728294				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding	g.chr2:242689679C>T	AK091725	CCDS33426.1, CCDS74684.1	2p25.3	2010-05-11			ENSG00000180902	ENSG00000180902	1.1.99.-		28358	protein-coding gene	gene with protein product		609186				15070399, 15609246	Standard	NM_152783		Approved	MGC25181, D2HGD, FLJ42195	uc002wce.1	Q8N465	OTTHUMG00000151474	ENST00000321264.4:c.967C>T	2.37:g.242689679C>T	ENSP00000315351:p.Arg323Cys					D2HGDH_ENST00000486953.1_3'UTR|D2HGDH_ENST00000403782.1_Missense_Mutation_p.R189C	p.R323C	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)	7	1176	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	323					B4E3L6|E7ENP2|Q6IQ24|Q8N5Q8	Missense_Mutation	SNP	ENST00000321264.4	37	c.967C>T	CCDS33426.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.41|12.41	1.929892|1.929892	0.34096|0.34096	.|.	.|.	ENSG00000180902|ENSG00000180902	ENST00000432449|ENST00000321264;ENST00000403782;ENST00000437164	.|D;D;T	.|0.83837	.|-1.77;-1.77;-1.31	4.63|4.63	2.57|2.57	0.30868|0.30868	.|FAD-linked oxidase-like, C-terminal (1);FAD-linked oxidase, C-terminal (1);	.|1.217070	.|0.05854	.|N	.|0.621682	D|D	0.88179|0.88179	0.6367|0.6367	M|M	0.65677|0.65677	2.01|2.01	0.24118|0.24118	N|N	0.995812|0.995812	.|P	.|0.50272	.|0.933	.|P	.|0.58970	.|0.849	T|T	0.72184|0.72184	-0.4367|-0.4367	5|10	.|0.72032	.|D	.|0.01	-0.1695|-0.1695	7.2348|7.2348	0.26064|0.26064	0.2982:0.6013:0.0:0.1005|0.2982:0.6013:0.0:0.1005	.|.	.|323	.|Q8N465	.|D2HDH_HUMAN	V|C	76|323;189;86	.|ENSP00000315351:R323C;ENSP00000384723:R189C;ENSP00000412511:R86C	.|ENSP00000315351:R323C	A|R	+|+	2|1	0|0	D2HGDH|D2HGDH	242338352|242338352	0.059000|0.059000	0.20769|0.20769	0.001000|0.001000	0.08648|0.08648	0.004000|0.004000	0.04260|0.04260	3.069000|3.069000	0.50026|0.50026	0.961000|0.961000	0.38030|0.38030	-0.339000|-0.339000	0.08088|0.08088	GCG|CGC		0.622	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322794.2	NM_152783		10	42	0	0	0	1	0	10	42				
ABCC8	6833	broad.mit.edu	37	11	17470205	17470205	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr11:17470205T>C	ENST00000389817.3	-	8	1258	c.1190A>G	c.(1189-1191)aAt>aGt	p.N397S	ABCC8_ENST00000302539.4_Missense_Mutation_p.N397S			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	397	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CATAATTTTATTGTAAATCTT	0.458																																						ENST00000302539.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(1189-1191)aAt>aGt		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						175.0	168.0	171.0					11																	17470205		2200	4293	6493	SO:0001583	missense	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17470205T>C	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.1190A>G	11.37:g.17470205T>C	ENSP00000374467:p.Asn397Ser					ABCC8_ENST00000389817.3_Missense_Mutation_p.N397S	p.N397S	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	8	1315	-			397			ABC transmembrane type-1 1.		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.1190A>G	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.128643	0.77549	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.89617	-2.54;-2.54	4.79	4.79	0.61399	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.88640	0.6491	L	0.56199	1.76	0.58432	D	0.999994	B;B	0.24258	0.1;0.1	B;B	0.36092	0.217;0.069	D	0.87229	0.2259	10	0.54805	T	0.06	.	14.7926	0.69854	0.0:0.0:0.0:1.0	.	396;397	B7Z4N0;Q09428	.;ABCC8_HUMAN	S	397;397;411	ENSP00000374467:N397S;ENSP00000303960:N397S	ENSP00000303960:N397S	N	-	2	0	ABCC8	17426781	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.825000	0.86693	2.140000	0.66376	0.459000	0.35465	AAT		0.458	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		28	56	0	0	0	1	0	28	56				
DNPEP	23549	broad.mit.edu	37	2	220251440	220251440	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr2:220251440G>A	ENST00000273075.4	-	4	500	c.280C>T	c.(280-282)Cct>Tct	p.P94S	DNPEP_ENST00000523282.1_Missense_Mutation_p.P102S|DNPEP_ENST00000373972.1_Missense_Mutation_p.P19S|AC053503.4_ENST00000420563.1_RNA	NM_012100.2	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	84					peptide metabolic process (GO:0006518)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCATTGCCAGGAACGTACTGG	0.587																																						ENST00000273075.4																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(280-282)Cct>Tct		aspartyl aminopeptidase	L-Glutamic Acid(DB00142)						36.0	41.0	39.0					2																	220251440		2093	4219	6312	SO:0001583	missense	23549				peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr2:220251440G>A		CCDS42823.1	2q36.1	2008-05-22			ENSG00000123992	ENSG00000123992			2981	protein-coding gene	gene with protein product		611367				9632644	Standard	NM_012100		Approved	DAP, ASPEP	uc002vle.2	Q9ULA0	OTTHUMG00000058919	ENST00000273075.4:c.280C>T	2.37:g.220251440G>A	ENSP00000273075:p.Pro94Ser					DNPEP_ENST00000373972.1_Missense_Mutation_p.P19S|DNPEP_ENST00000523282.1_Missense_Mutation_p.P102S	p.P94S	NM_012100.2	NP_036232.2	Q9ULA0	DNPEP_HUMAN		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	500	-		Renal(207;0.0474)	84					Q9BW44|Q9NUV5	Missense_Mutation	SNP	ENST00000273075.4	37	c.280C>T	CCDS42823.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.634260	0.87660	.	.	ENSG00000123992	ENST00000273075;ENST00000337010;ENST00000373972;ENST00000523282;ENST00000457935;ENST00000429013;ENST00000521459;ENST00000322176;ENST00000434339;ENST00000430206;ENST00000519905	.	.	.	4.98	4.98	0.66077	.	0.115641	0.64402	D	0.000012	T	0.77458	0.4133	M	0.73962	2.25	0.80722	D	1	P;P;P;D;P	0.64830	0.734;0.888;0.855;0.994;0.734	B;P;P;P;B	0.61592	0.412;0.551;0.493;0.891;0.412	T	0.80688	-0.1271	9	0.66056	D	0.02	-8.8351	17.8432	0.88721	0.0:0.0:1.0:0.0	.	102;94;102;84;94	E7ETB3;B7Z822;B7Z7F0;Q9ULA0;Q53SB6	.;.;.;DNPEP_HUMAN;.	S	94;94;19;102;102;80;94;94;19;19;80	.	ENSP00000273075:P94S	P	-	1	0	DNPEP	219959684	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	9.403000	0.97302	2.305000	0.77605	0.491000	0.48974	CCT		0.587	DNPEP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000130212.1	NM_012100		3	2	0	0	0	1	0	3	2				
SPTB	6710	broad.mit.edu	37	14	65239534	65239534	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr14:65239534C>T	ENST00000389721.5	-	25	5349	c.5317G>A	c.(5317-5319)Gac>Aac	p.D1773N	SPTB_ENST00000542895.1_Missense_Mutation_p.D1773N|SPTB_ENST00000389720.3_Missense_Mutation_p.D1773N|SPTB_ENST00000389722.3_Missense_Mutation_p.D1773N|SPTB_ENST00000556626.1_Missense_Mutation_p.D1773N	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1773					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TTCAGCCCGTCCTTCCACTCG	0.642																																						ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(5317-5319)Gac>Aac		spectrin, beta, erythrocytic							80.0	61.0	68.0					14																	65239534		2203	4300	6503	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65239534C>T		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.5317G>A	14.37:g.65239534C>T	ENSP00000374371:p.Asp1773Asn					SPTB_ENST00000556626.1_Missense_Mutation_p.D1773N|SPTB_ENST00000389720.3_Missense_Mutation_p.D1773N|SPTB_ENST00000542895.1_Missense_Mutation_p.D1773N|SPTB_ENST00000389721.5_Missense_Mutation_p.D1773N	p.D1773N	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	25	5370	-		all_lung(585;4.15e-09)	1773					Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.5317G>A	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	C	35	5.502909	0.96371	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;1.26	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.69115	0.3075	M	0.72479	2.2	0.80722	D	1	P;D;D	0.89917	0.944;1.0;1.0	P;D;D	0.87578	0.774;0.998;0.993	T	0.72308	-0.4332	10	0.87932	D	0	.	17.8889	0.88865	0.0:1.0:0.0:0.0	.	557;1773;1777	E7EV95;P11277;Q59FP5	.;SPTB1_HUMAN;.	N	1777;1773;557;438;1773;1773;1773;1773	ENSP00000374372:D1773N;ENSP00000451324:D438N;ENSP00000451752:D1773N;ENSP00000374371:D1773N;ENSP00000443882:D1773N;ENSP00000374370:D1773N	ENSP00000334218:D557N	D	-	1	0	SPTB	64309287	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	7.818000	0.86416	2.595000	0.87683	0.561000	0.74099	GAC		0.642	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			25	50	0	0	0	1	0	25	50				
MALAT1	378938	broad.mit.edu	37	11	65268905	65268905	+	lincRNA	SNP	G	G	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr11:65268905G>A	ENST00000534336.1	+	0	3673					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		TGGAGAAATGGCTGGTAGTTA	0.403																																						ENST00000534336.1																			0																				22.0	22.0	22.0					11																	65268905		874	1988	2862			378938							g.chr11:65268905G>A	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65268905G>A								NR_002819.2						0	3673	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.403	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		6	16	0	0	0	1	0	6	16				
PVRL4	81607	broad.mit.edu	37	1	161047418	161047418	+	Silent	SNP	C	C	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr1:161047418C>A	ENST00000368012.3	-	3	857	c.555G>T	c.(553-555)acG>acT	p.T185T	PVRL4_ENST00000453926.2_5'Flank	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	185	Ig-like C2-type 1.		T -> M (in EDSS1). {ECO:0000269|PubMed:20691405}.		adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CTTTGACCTCCGTGTCCCAGG	0.637																																					NSCLC(76;1160 1387 14476 16172 29359)	ENST00000368012.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20						c.(553-555)acG>acT		poliovirus receptor-related 4							58.0	49.0	52.0					1																	161047418		2203	4300	6503	SO:0001819	synonymous_variant	81607				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane		g.chr1:161047418C>A	AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.555G>T	1.37:g.161047418C>A							p.T185T	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		3	857	-	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		185		T -> M (in EDSS1).	Ig-like C2-type 1.		B4DQW3|Q96K15	Silent	SNP	ENST00000368012.3	37	c.555G>T	CCDS1216.1																																																																																				0.637	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077074.1	NM_030916		29	34	1	0	4.87955e-14	1	5.71905e-14	29	34				
SDK1	221935	broad.mit.edu	37	7	4153034	4153034	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr7:4153034G>A	ENST00000404826.2	+	24	3687	c.3548G>A	c.(3547-3549)cGt>cAt	p.R1183H	SDK1_ENST00000389531.3_Missense_Mutation_p.R1183H	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1183	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GTCACGGTCCGTACTGCCAGT	0.652																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(3547-3549)cGt>cAt		sidekick cell adhesion molecule 1							95.0	101.0	99.0					7																	4153034		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4153034G>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3548G>A	7.37:g.4153034G>A	ENSP00000385899:p.Arg1183His					SDK1_ENST00000389531.3_Missense_Mutation_p.R1183H	p.R1183H	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	24	3687	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1183			Fibronectin type-III 6.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.3548G>A	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.987788	0.74589	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.57595	0.39;0.39	4.92	4.92	0.64577	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.224194	0.30771	N	0.008901	T	0.70491	0.3230	M	0.63208	1.945	0.45035	D	0.998052	D;D	0.89917	1.0;1.0	D;D	0.70487	0.969;0.952	T	0.73827	-0.3860	10	0.72032	D	0.01	.	18.504	0.90891	0.0:0.0:1.0:0.0	.	1183;1183	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	H	1183	ENSP00000385899:R1183H;ENSP00000374182:R1183H	ENSP00000374182:R1183H	R	+	2	0	SDK1	4119560	1.000000	0.71417	0.687000	0.30102	0.659000	0.38960	6.096000	0.71446	2.437000	0.82529	0.655000	0.94253	CGT		0.652	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		5	172	0	0	0	1	0	5	172				
FAM160A2	84067	broad.mit.edu	37	11	6243788	6243788	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr11:6243788G>A	ENST00000449352.2	-	6	1338	c.1075C>T	c.(1075-1077)Cgg>Tgg	p.R359W	FAM160A2_ENST00000524416.1_Missense_Mutation_p.R359W|FAM160A2_ENST00000265978.4_Missense_Mutation_p.R359W			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	359					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GAGATACTCCGTAGGAAAAGT	0.527																																						ENST00000265978.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1075-1077)Cgg>Tgg		family with sequence similarity 160, member A2							140.0	119.0	126.0					11																	6243788		2201	4296	6497	SO:0001583	missense	84067				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	g.chr11:6243788G>A		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.1075C>T	11.37:g.6243788G>A	ENSP00000416918:p.Arg359Trp					FAM160A2_ENST00000449352.2_Missense_Mutation_p.R359W|FAM160A2_ENST00000524416.1_Missense_Mutation_p.R359W	p.R359W	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN			6	1433	-			359					Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP	ENST00000449352.2	37	c.1075C>T	CCDS44530.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.453557	0.84209	.	.	ENSG00000051009	ENST00000449352;ENST00000442917;ENST00000265978;ENST00000524416	T;T;T	0.34859	1.34;1.34;1.34	5.25	4.32	0.51571	.	0.000000	0.85682	D	0.000000	T	0.65739	0.2720	M	0.88310	2.945	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.74244	-0.3728	10	0.87932	D	0	-35.0761	14.7295	0.69372	0.0:0.0:0.8545:0.1455	.	359;359;359	E9PJK5;Q8N612;Q8N612-2	.;F16A2_HUMAN;.	W	359;284;359;359	ENSP00000416918:R359W;ENSP00000265978:R359W;ENSP00000431773:R359W	ENSP00000265978:R359W	R	-	1	2	FAM160A2	6200364	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.812000	0.86109	1.320000	0.45209	0.561000	0.74099	CGG		0.527	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127		15	36	0	0	0	1	0	15	36				
VN1R2	317701	broad.mit.edu	37	19	53762570	53762570	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr19:53762570C>G	ENST00000341702.3	+	1	1026	c.942C>G	c.(940-942)atC>atG	p.I314M	VN1R2_ENST00000598458.1_3'UTR	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	314					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		ACAGAGCCATCCAAAGCATCC	0.468																																						ENST00000341702.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31						c.(940-942)atC>atG		vomeronasal 1 receptor 2							210.0	186.0	194.0					19																	53762570		2203	4300	6503	SO:0001583	missense	317701				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53762570C>G	AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.942C>G	19.37:g.53762570C>G	ENSP00000351244:p.Ile314Met					VN1R2_ENST00000598458.1_3'UTR	p.I314M	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN		GBM - Glioblastoma multiforme(134;0.00301)	1	1026	+			314					A1L411|Q8TDU4	Missense_Mutation	SNP	ENST00000341702.3	37	c.942C>G	CCDS12862.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.313661	0.40996	.	.	ENSG00000196131	ENST00000341702	T	0.09630	2.96	2.93	-0.696	0.11287	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.10723	0.0262	L	0.54323	1.7	0.09310	N	1	P	0.34757	0.467	B	0.38296	0.27	T	0.31251	-0.9950	9	0.66056	D	0.02	.	2.792	0.05391	0.2024:0.4419:0.0:0.3556	.	314	Q8NFZ6	VN1R2_HUMAN	M	314	ENSP00000351244:I314M	ENSP00000351244:I314M	I	+	3	3	VN1R2	58454382	0.000000	0.05858	0.001000	0.08648	0.454000	0.32378	-0.081000	0.11321	-0.013000	0.14199	0.590000	0.80494	ATC		0.468	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		23	116	0	0	0	1	0	23	116				
OR4K2	390431	broad.mit.edu	37	14	20345218	20345218	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr14:20345218C>A	ENST00000298642.2	+	1	828	c.792C>A	c.(790-792)agC>agA	p.S264R		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CACTAAGCAGCTTTCTCACAG	0.403																																						ENST00000298642.2																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43						c.(790-792)agC>agA		olfactory receptor, family 4, subfamily K, member 2							166.0	163.0	164.0					14																	20345218		2203	4300	6503	SO:0001583	missense	390431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20345218C>A		CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"""GPCR / Class A : Olfactory receptors"""	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.792C>A	14.37:g.20345218C>A	ENSP00000298642:p.Ser264Arg						p.S264R	NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	828	+	all_cancers(95;0.00108)		264					B2RNK8|Q6IFA5	Missense_Mutation	SNP	ENST00000298642.2	37	c.792C>A	CCDS32023.1	.	.	.	.	.	.	.	.	.	.	.	0.362	-0.938826	0.02340	.	.	ENSG00000165762	ENST00000298642	T	0.39229	1.09	5.16	0.284	0.15701	GPCR, rhodopsin-like superfamily (1);	0.209718	0.33753	N	0.004586	T	0.26991	0.0661	L	0.31804	0.96	0.09310	N	1	B	0.09022	0.002	B	0.15052	0.012	T	0.17349	-1.0372	10	0.48119	T	0.1	.	8.1332	0.31039	0.0:0.2846:0.0:0.7154	.	264	Q8NGD2	OR4K2_HUMAN	R	264	ENSP00000298642:S264R	ENSP00000298642:S264R	S	+	3	2	OR4K2	19415058	0.000000	0.05858	0.515000	0.27774	0.266000	0.26442	-1.251000	0.02882	-0.002000	0.14469	0.591000	0.81541	AGC		0.403	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1			24	183	1	0	7.92952e-12	1	9.19487e-12	24	183				
TOX2	84969	broad.mit.edu	37	20	42694468	42694468	+	Silent	SNP	G	G	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr20:42694468G>A	ENST00000358131.5	+	6	1231	c.1023G>A	c.(1021-1023)tcG>tcA	p.S341S	TOX2_ENST00000372999.1_Silent_p.S317S|TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000423191.2_Silent_p.S317S|TOX2_ENST00000341197.4_Silent_p.S359S	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	341					female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TGACGCCGTCGGACCTGCAGG	0.682																																						ENST00000358131.5																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26						c.(1021-1023)tcG>tcA		TOX high mobility group box family member 2							68.0	72.0	71.0					20																	42694468		2203	4300	6503	SO:0001819	synonymous_variant	84969				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr20:42694468G>A	BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"""granulosa cell HMG box 1"""	611163	"""chromosome 20 open reading frame 100"""	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.1023G>A	20.37:g.42694468G>A						TOX2_ENST00000435864.2_Silent_p.S237S|TOX2_ENST00000423191.1_Silent_p.S317S|TOX2_ENST00000372999.1_Silent_p.S317S|TOX2_ENST00000341197.3_Silent_p.S359S	p.S341S	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		6	1231	+		Myeloproliferative disorder(115;0.00452)	341					A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Silent	SNP	ENST00000358131.5	37	c.1023G>A	CCDS42875.1																																																																																				0.682	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2			30	85	0	0	0	1	0	30	85				
SERPINA13P	388007	broad.mit.edu	37	14	95108141	95108141	+	RNA	SNP	T	T	C			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr14:95108141T>C	ENST00000469935.1	+	0	746					NR_015340.1		Q6UXR4	SPA13_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13, pseudogene						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)										CATTGACGAATATACAGAGCA	0.612																																						ENST00000469935.1																			0																				77.0	90.0	86.0					14																	95108141		2203	4300	6503			388007							g.chr14:95108141T>C	AY358238		14q32.13	2014-02-18	2012-10-03	2012-10-03	ENSG00000187483	ENSG00000187483		"""Serine (or cysteine) peptidase inhibitors"""	30909	pseudogene	pseudogene			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13"", ""serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13"""	SERPINA13		15014966, 16395595, 24172014	Standard	NR_015340		Approved	UNQ6121	uc001ydt.3	Q6UXR4	OTTHUMG00000150191		14.37:g.95108141T>C								NR_015340.1						0	746	+									RNA	SNP	ENST00000469935.1	37																																																																																						0.612	SERPINA13P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000316754.1	NR_015340		46	77	0	0	0	1	0	46	77				
TRBV5-6	28609	broad.mit.edu	37	7	142131665	142131665	+	RNA	SNP	C	C	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr7:142131665C>A	ENST00000390375.2	-	0	130									T cell receptor beta variable 5-6																		TCGTTTTGATCAGGTGTGTGG	0.572																																						ENST00000390375.2																			0																				102.0	93.0	96.0					7																	142131665		1968	4155	6123			28609							g.chr7:142131665C>A	L36092		7q34	2012-02-07			ENSG00000211728	ENSG00000211728		"""T cell receptors / TRB locus"""	12223	other	T cell receptor gene	"""T-cell receptor beta chain V region CTL-L17 -like"""					8650574	Standard	NG_001333		Approved	TRBV56, TCRBV5S2, TCRBV5S6			OTTHUMG00000158873		7.37:g.142131665C>A														0	130	-									RNA	SNP	ENST00000390375.2	37																																																																																						0.572	TRBV5-6-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352481.1	NG_001333		23	48	1	0	2.79863e-10	1	3.11276e-10	23	48				
CSMD3	114788	broad.mit.edu	37	8	113299438	113299438	+	Silent	SNP	G	G	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr8:113299438G>T	ENST00000297405.5	-	58	9430	c.9186C>A	c.(9184-9186)ccC>ccA	p.P3062P	CSMD3_ENST00000455883.2_Silent_p.P2893P|CSMD3_ENST00000343508.3_Silent_p.P3022P|CSMD3_ENST00000352409.3_Silent_p.P2992P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3062	Sushi 22. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGCCATGGCCGGGAGTACCTG	0.418										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(9184-9186)ccC>ccA		CUB and Sushi multiple domains 3							123.0	111.0	115.0					8																	113299438		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113299438G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9186C>A	8.37:g.113299438G>T		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Silent_p.P2992P|CSMD3_ENST00000455883.2_Silent_p.P2893P|CSMD3_ENST00000343508.3_Silent_p.P3022P	p.P3062P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			58	9430	-			3062			Sushi 22.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.9186C>A	CCDS6315.1																																																																																				0.418	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		6	108	1	0	0.00307968	1	0.00310819	6	108				
CCNA1	8900	broad.mit.edu	37	13	37011903	37011903	+	Silent	SNP	G	G	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr13:37011903G>A	ENST00000255465.4	+	3	699	c.435G>A	c.(433-435)ggG>ggA	p.G145G	CCNA1_ENST00000449823.1_Silent_p.G101G|CCNA1_ENST00000440264.1_Silent_p.G101G|CCNA1_ENST00000418263.1_Silent_p.G144G			P78396	CCNA1_HUMAN	cyclin A1	145					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TAGAGCAGGGGGACAGAGACA	0.542																																						ENST00000418263.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35						c.(430-432)ggG>ggA		cyclin A1							103.0	106.0	105.0					13																	37011903		2203	4300	6503	SO:0001819	synonymous_variant	8900				cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding	g.chr13:37011903G>A	U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.435G>A	13.37:g.37011903G>A						CCNA1_ENST00000255465.4_Silent_p.G145G|CCNA1_ENST00000440264.1_Silent_p.G101G|CCNA1_ENST00000449823.1_Silent_p.G101G	p.G144G	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)	3	782	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	145					B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Silent	SNP	ENST00000255465.4	37	c.432G>A	CCDS9357.1																																																																																				0.542	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914		54	28	0	0	0	1	0	54	28				
ASPH	444	broad.mit.edu	37	8	62577965	62577965	+	Intron	SNP	T	T	C			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr8:62577965T>C	ENST00000379454.4	-	4	510				ASPH_ENST00000517856.1_Intron|ASPH_ENST00000522835.1_Intron|ASPH_ENST00000517903.1_Intron|ASPH_ENST00000356457.5_Intron|ASPH_ENST00000541428.1_Intron|ASPH_ENST00000522603.1_Missense_Mutation_p.S160G|ASPH_ENST00000389204.4_Missense_Mutation_p.S175G|ASPH_ENST00000518068.1_Intron|ASPH_ENST00000445642.3_Intron|ASPH_ENST00000517847.2_Intron	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase						activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	gttttagcacttttttctagg	0.378																																						ENST00000389204.4																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(523-525)Agt>Ggt		aspartate beta-hydroxylase	L-Aspartic Acid(DB00128)|Succinic acid(DB00139)						183.0	155.0	164.0					8																	62577965		2203	4300	6503	SO:0001627	intron_variant	444				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle	g.chr8:62577965T>C	AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.323-11746A>G	8.37:g.62577965T>C						ASPH_ENST00000541428.1_Intron|ASPH_ENST00000356457.5_Intron|ASPH_ENST00000518068.1_Intron|ASPH_ENST00000522835.1_Intron|ASPH_ENST00000379454.4_Intron|ASPH_ENST00000517847.2_Intron|ASPH_ENST00000517856.1_Intron|ASPH_ENST00000445642.3_Intron|ASPH_ENST00000522603.1_Missense_Mutation_p.S160G|ASPH_ENST00000517903.1_Intron	p.S175G	NM_020164.4	NP_064549.1	Q12797	ASPH_HUMAN			6	608	-	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)	391			Glu-rich.		A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	ENST00000379454.4	37	c.523A>G	CCDS34898.1	.	.	.	.	.	.	.	.	.	.	T	2.961	-0.214620	0.06101	.	.	ENSG00000198363	ENST00000389204;ENST00000522603	T;T	0.55052	0.54;0.54	4.82	2.44	0.29823	.	.	.	.	.	T	0.37812	0.1017	.	.	.	0.09310	N	0.999994	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.003	T	0.22871	-1.0204	8	0.35671	T	0.21	.	7.9363	0.29931	0.0:0.1324:0.0:0.8676	.	160;175	Q12797-4;Q12797-3	.;.	G	175;160	ENSP00000373856:S175G;ENSP00000436188:S160G	ENSP00000373856:S175G	S	-	1	0	ASPH	62740519	0.207000	0.23482	0.003000	0.11579	0.111000	0.19643	0.711000	0.25764	0.418000	0.25898	0.533000	0.62120	AGT		0.378	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		15	27	0	0	0	1	0	15	27				
SYNE3	161176	broad.mit.edu	37	14	95910816	95910816	+	Intron	SNP	C	C	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr14:95910816C>T	ENST00000334258.5	-	9	1791				SYNE3_ENST00000553340.1_Silent_p.R594R|SYNE3_ENST00000557275.1_Intron|SYNE3_ENST00000554873.1_Intron	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3						cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						CTCACAGACCCCTCACCTGCA	0.602																																						ENST00000553340.1																			0				breast(1)|endometrium(2)|lung(25)	28						c.(1780-1782)agG>agA		spectrin repeat containing, nuclear envelope family member 3							58.0	52.0	54.0					14																	95910816		2203	4300	6503	SO:0001627	intron_variant	161176							g.chr14:95910816C>T	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.1776+5G>A	14.37:g.95910816C>T						SYNE3_ENST00000334258.5_Intron|SYNE3_ENST00000557275.1_Intron|SYNE3_ENST00000554873.1_Intron	p.R594R							9	1796	-								A6H8H3|Q86SX5|Q8N7G8	Silent	SNP	ENST00000334258.5	37	c.1782G>A	CCDS9935.1																																																																																				0.602	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		14	25	0	0	0	1	0	14	25				
CDRT15	146822	broad.mit.edu	37	17	14140021	14140021	+	Missense_Mutation	SNP	G	G	A	rs371777451		TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr17:14140021G>A	ENST00000420162.2	-	1	145	c.130C>T	c.(130-132)Cgc>Tgc	p.R44C	CDRT15_ENST00000431716.2_Missense_Mutation_p.A19V	NM_001007530.1	NP_001007531.1	Q96T59	CDRTF_HUMAN	CMT1A duplicated region transcript 15	44										endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		ACCTGGATGCGCCTTATTACA	0.607																																						ENST00000420162.2																			0				endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	6						c.(130-132)Cgc>Tgc		CMT1A duplicated region transcript 15		G	CYS/ARG	0,4396		0,0,2198	19.0	19.0	19.0		130	-1.4	0.0	17		19	3,8581		0,3,4289	no	missense	CDRT15	NM_001007530.1	180	0,3,6487	AA,AG,GG		0.0349,0.0,0.0231	benign	44/189	14140021	3,12977	2198	4292	6490	SO:0001583	missense	146822							g.chr17:14140021G>A	AF355097	CCDS32569.1	17p12	2012-11-19			ENSG00000223510	ENSG00000223510			14395	protein-coding gene	gene with protein product						11381029	Standard	NM_001007530		Approved		uc010vvu.2	Q96T59	OTTHUMG00000179686	ENST00000420162.2:c.130C>T	17.37:g.14140021G>A	ENSP00000402355:p.Arg44Cys					CDRT15_ENST00000431716.2_Missense_Mutation_p.A19V	p.R44C	NM_001007530.1	NP_001007531.1	Q96T59	CDRTF_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	1	145	-			44					B2RUU5	Missense_Mutation	SNP	ENST00000420162.2	37	c.130C>T	CCDS32569.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.163|3.163	-0.171642|-0.171642	0.06421|0.06421	0.0|0.0	3.49E-4|3.49E-4	ENSG00000223510|ENSG00000223510	ENST00000431716|ENST00000420162	.|T	.|0.52295	.|0.67	0.675|0.675	-1.35|-1.35	0.09114|0.09114	.|.	.|.	.|.	.|.	.|.	T|T	0.21468|0.21468	0.0517|0.0517	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B	.|0.23854	.|0.092	.|B	.|0.08055	.|0.003	T|T	0.12372|0.12372	-1.0550|-1.0550	5|8	0.87932|0.35671	D|T	0|0.21	.|.	.|.	.|.	.|.	.|.	.|44	.|Q96T59	.|CDRTF_HUMAN	V|C	19|44	.|ENSP00000402355:R44C	ENSP00000399575:A19V|ENSP00000402355:R44C	A|R	-|-	2|1	0|0	CDRT15|CDRT15	14080746|14080746	0.044000|0.044000	0.20184|0.20184	0.003000|0.003000	0.11579|0.11579	0.006000|0.006000	0.05464|0.05464	0.145000|0.145000	0.16157|0.16157	-0.306000|-0.306000	0.08818|0.08818	-0.763000|-0.763000	0.03452|0.03452	GCG|CGC		0.607	CDRT15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252853.1	NM_001007530		15	14	0	0	0	1	0	15	14				
RTN1	6252	broad.mit.edu	37	14	60097285	60097285	+	Intron	SNP	G	G	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr14:60097285G>A	ENST00000267484.5	-	4	2101				RTN1_ENST00000395090.1_De_novo_Start_OutOfFrame|RTN1_ENST00000557422.1_5'UTR|RTN1_ENST00000342503.4_De_novo_Start_OutOfFrame	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1						neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GCACTCAAGCGTTGGTGCCCG	0.721																																						ENST00000342503.4																			0				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49								reticulon 1							13.0	13.0	13.0					14																	60097285		692	1590	2282	SO:0001627	intron_variant	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60097285G>A	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.1766-23075C>T	14.37:g.60097285G>A						RTN1_ENST00000557422.1_5'UTR|RTN1_ENST00000395090.1_De_novo_Start_OutOfFrame|RTN1_ENST00000267484.5_Intron		NM_206852.2	NP_996734.1	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	0	247	-								Q16800|Q16801|Q5BKZ4|Q9BQ59	Translation_Start_Site	SNP	ENST00000267484.5	37		CCDS9740.1																																																																																				0.721	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			31	59	0	0	0	1	0	31	59				
CHEK1	1111	broad.mit.edu	37	11	125514440	125514440	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr11:125514440C>T	ENST00000534070.1	+	11	1390	c.1135C>T	c.(1135-1137)Cga>Tga	p.R379*	CHEK1_ENST00000438015.1_Nonsense_Mutation_p.R379*|CHEK1_ENST00000524737.1_Nonsense_Mutation_p.R379*|CHEK1_ENST00000544373.1_Nonsense_Mutation_p.R379*|CHEK1_ENST00000428830.2_Nonsense_Mutation_p.R379*|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000427383.2_Nonsense_Mutation_p.R395*|CHEK1_ENST00000278916.3_Intron	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	379					cellular response to caffeine (GO:0071313)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to mechanical stimulus (GO:0071260)|chromatin-mediated maintenance of transcription (GO:0048096)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of mitosis (GO:0045839)|peptidyl-threonine phosphorylation (GO:0018107)|regulation of cell proliferation (GO:0042127)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of histone H3-K9 acetylation (GO:2000615)|regulation of mitotic centrosome separation (GO:0046602)|regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010767)|replicative senescence (GO:0090399)	centrosome (GO:0005813)|chromatin (GO:0000785)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	ATP binding (GO:0005524)|histone kinase activity (H3-T11 specific) (GO:0035402)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		AAGAATGACACGATTCTTTAC	0.373								Other conserved DNA damage response genes																														ENST00000534070.1																			0				central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1135-1137)Cga>Tga	Other conserved DNA damage response genes	checkpoint kinase 1							115.0	114.0	114.0					11																	125514440		2201	4299	6500	SO:0001587	stop_gained	1111				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr11:125514440C>T	AF016582, BC017575	CCDS8459.1, CCDS58191.1	11q24.2	2011-11-11	2011-11-11		ENSG00000149554	ENSG00000149554			1925	protein-coding gene	gene with protein product		603078	"""CHK1 (checkpoint, S.pombe) homolog"", ""CHK1 checkpoint homolog (S. pombe)"""			9278511, 9382850	Standard	NM_001114121		Approved	CHK1	uc001qcg.4	O14757	OTTHUMG00000165853	ENST00000534070.1:c.1135C>T	11.37:g.125514440C>T	ENSP00000435371:p.Arg379*					CHEK1_ENST00000524737.1_Nonsense_Mutation_p.R379*|CHEK1_ENST00000544373.1_Nonsense_Mutation_p.R379*|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000427383.2_Nonsense_Mutation_p.R395*|CHEK1_ENST00000428830.2_Nonsense_Mutation_p.R379*|CHEK1_ENST00000278916.3_Intron|CHEK1_ENST00000438015.1_Nonsense_Mutation_p.R379*	p.R379*	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)	11	1390	+	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	379					A8K934|B4DDD0|B4DSK3|B5BTY6|F5H7S4|H2BI51	Nonsense_Mutation	SNP	ENST00000534070.1	37	c.1135C>T	CCDS8459.1	.	.	.	.	.	.	.	.	.	.	C	46	12.372492	0.99661	.	.	ENSG00000149554	ENST00000438015;ENST00000427383;ENST00000428830;ENST00000544373;ENST00000534070;ENST00000524737	.	.	.	5.63	1.58	0.23477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.9783	5.7187	0.17974	0.3906:0.467:0.0:0.1424	.	.	.	.	X	379;395;379;379;379;379	.	ENSP00000391090:R395X	R	+	1	2	CHEK1	125019650	1.000000	0.71417	0.989000	0.46669	0.999000	0.98932	2.884000	0.48562	0.037000	0.15575	0.655000	0.94253	CGA		0.373	CHEK1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386714.1	NM_001274		6	51	0	0	0	1	0	6	51				
LCT	3938	broad.mit.edu	37	2	136570264	136570264	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr2:136570264G>C	ENST00000264162.2	-	7	1980	c.1970C>G	c.(1969-1971)tCc>tGc	p.S657C	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	657	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	CACAGGATGGGAGCACTGTCT	0.562																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(1969-1971)tCc>tGc		lactase							128.0	113.0	118.0					2																	136570264		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136570264G>C	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.1970C>G	2.37:g.136570264G>C	ENSP00000264162:p.Ser657Cys						p.S657C	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	7	1980	-			657			4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.1970C>G	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	G	8.719	0.913926	0.17907	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.53206	0.63	5.49	0.00669	0.14068	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.857604	0.10775	N	0.635506	T	0.42337	0.1198	N	0.22421	0.69	0.09310	N	1	P	0.46656	0.882	P	0.52481	0.7	T	0.34527	-0.9825	10	0.62326	D	0.03	-2.4993	7.2906	0.26364	0.0597:0.1989:0.5457:0.1957	.	657	P09848	LPH_HUMAN	C	657;89	ENSP00000264162:S657C	ENSP00000264162:S657C	S	-	2	0	LCT	136286734	0.093000	0.21703	0.018000	0.16275	0.004000	0.04260	1.305000	0.33493	-0.229000	0.09854	-2.067000	0.00394	TCC		0.562	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		12	53	0	0	0	1	0	12	53				
SLC25A46	91137	broad.mit.edu	37	5	110096948	110096948	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr5:110096948A>C	ENST00000355943.3	+	8	849	c.723A>C	c.(721-723)aaA>aaC	p.K241N	SLC25A46_ENST00000504098.1_Missense_Mutation_p.K95N|SLC25A46_ENST00000513807.1_Missense_Mutation_p.K79N|SLC25A46_ENST00000509432.1_Missense_Mutation_p.K28N|SLC25A46_ENST00000447245.2_Intron|SLC25A46_ENST00000509442.2_Missense_Mutation_p.K150N|SLC25A46_ENST00000513706.1_3'UTR	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	241					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		AGTGTGTTAAAGAAGGAATTG	0.383																																						ENST00000355943.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10						c.(721-723)aaA>aaC		solute carrier family 25, member 46							135.0	134.0	134.0					5																	110096948		2202	4299	6501	SO:0001583	missense	91137				transport	integral to membrane|mitochondrial inner membrane		g.chr5:110096948A>C	BC017169	CCDS4100.1	5q22.1	2013-05-22			ENSG00000164209	ENSG00000164209		"""Solute carriers"""	25198	protein-coding gene	gene with protein product		610826				1651562, 1651563, 16949250	Standard	NM_138773		Approved		uc003koz.3	Q96AG3	OTTHUMG00000128794	ENST00000355943.3:c.723A>C	5.37:g.110096948A>C	ENSP00000348211:p.Lys241Asn					SLC25A46_ENST00000509432.1_Missense_Mutation_p.K28N|SLC25A46_ENST00000513807.1_Missense_Mutation_p.K79N|SLC25A46_ENST00000509442.2_Missense_Mutation_p.K150N|SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000504098.1_Missense_Mutation_p.K95N|SLC25A46_ENST00000447245.2_Intron	p.K241N	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)	8	849	+		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)	241					A8K2F2|B3KRE6|B4DTA3|D3DSZ6|D6R9W7|Q04197	Missense_Mutation	SNP	ENST00000355943.3	37	c.723A>C	CCDS4100.1	.	.	.	.	.	.	.	.	.	.	A	16.92	3.254273	0.59212	.	.	ENSG00000164209	ENST00000513807;ENST00000509442;ENST00000355943;ENST00000514046;ENST00000504098;ENST00000509432	T;T;T;T;D	0.86562	-1.34;-1.34;-1.34;-1.34;-2.14	5.96	4.81	0.61882	Mitochondrial carrier domain (2);	0.195643	0.53938	D	0.000049	D	0.90222	0.6943	M	0.66939	2.045	0.54753	D	0.999985	B;D	0.61697	0.314;0.99	B;P	0.56343	0.162;0.796	D	0.90349	0.4365	10	0.72032	D	0.01	-6.7055	12.0174	0.53321	0.9329:0.0:0.0671:0.0	.	150;241	B4DY98;Q96AG3	.;S2546_HUMAN	N	79;150;241;95;95;28	ENSP00000421134:K79N;ENSP00000424136:K150N;ENSP00000348211:K241N;ENSP00000425708:K95N;ENSP00000426604:K28N	ENSP00000348211:K241N	K	+	3	2	SLC25A46	110124847	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	2.578000	0.46051	1.086000	0.41228	0.528000	0.53228	AAA		0.383	SLC25A46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250721.5	NM_138773		56	46	0	0	0	1	0	56	46				
PKD2L1	9033	broad.mit.edu	37	10	102049774	102049774	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr10:102049774C>T	ENST00000318222.3	-	14	2630	c.2248G>A	c.(2248-2250)Gtg>Atg	p.V750M	PKD2L1_ENST00000353274.3_Missense_Mutation_p.V750M|PKD2L1_ENST00000338519.3_Missense_Mutation_p.V675M	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	750	Required for protein homotrimerization.				cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CCACTCACCACGCCTGGGGAG	0.547																																						ENST00000318222.3																			0				NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(2248-2250)Gtg>Atg		polycystic kidney disease 2-like 1							81.0	76.0	78.0					10																	102049774		2203	4300	6503	SO:0001583	missense	9033				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	g.chr10:102049774C>T	AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.2248G>A	10.37:g.102049774C>T	ENSP00000325296:p.Val750Met					PKD2L1_ENST00000338519.3_Missense_Mutation_p.V675M|PKD2L1_ENST00000353274.3_Missense_Mutation_p.V750M	p.V750M	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)	14	2630	-		Colorectal(252;0.117)	750					O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	ENST00000318222.3	37	c.2248G>A	CCDS7492.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.244662	0.22796	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	T;T;T	0.60171	0.46;0.21;0.32	5.49	-4.7	0.03288	.	1.217670	0.05743	N	0.601652	T	0.16514	0.0397	N	0.00289	-1.7	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.001	T	0.24404	-1.0161	10	0.09843	T	0.71	-0.35	6.5297	0.22320	0.0:0.213:0.2549:0.5321	.	703;750	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	M	675;750;750;748	ENSP00000345068:V675M;ENSP00000266049:V750M;ENSP00000325296:V750M	ENSP00000325296:V750M	V	-	1	0	PKD2L1	102039764	0.000000	0.05858	0.004000	0.12327	0.810000	0.45777	-1.016000	0.03633	-0.736000	0.04831	0.305000	0.20034	GTG		0.547	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		23	52	0	0	0	1	0	23	52				
H3F3AP4	440926	broad.mit.edu	37	2	175585095	175585095	+	RNA	DEL	T	T	-	rs112662182	byFrequency	TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr2:175585095delT	ENST00000442996.1	+	0	217																											AAAAAAAAAATTTCTCTTCTT	0.373																																						ENST00000442996.1																			0																																																			440926							g.chr2:175585095delT																													2.37:g.175585095delT														0	217	+									RNA	DEL	ENST00000442996.1	37																																																																																						0.373	AC018890.6-002	KNOWN	basic	antisense	antisense	OTTHUMT00000334128.1			3	3						3	3	---	---	---	---
MIR9-2	407047	broad.mit.edu	37	5	87980814	87980816	+	RNA	DEL	GAG	GAG	-			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr5:87980814_87980816delGAG	ENST00000510274.1	+	0	46																											ggaggaggaagaggaggaggagg	0.581																																						ENST00000510274.1																			0																																																			407047							g.chr5:87980814_87980816delGAG																													5.37:g.87980823_87980825delGAG														0	46	+									RNA	DEL	ENST00000510274.1	37																																																																																						0.581	CTC-467M3.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000369794.1			3	4						3	4	---	---	---	---
LAMC3	10319	broad.mit.edu	37	9	133884921	133884921	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr9:133884921delC	ENST00000361069.4	+	1	453	c.320delC	c.(319-321)tccfs	p.S107fs	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	107	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CAGAGCCCGTCCATGGCCTTC	0.701																																						ENST00000361069.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69						c.(319-321)tcfs		laminin, gamma 3							16.0	11.0	13.0					9																	133884921		2150	4247	6397	SO:0001589	frameshift_variant	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133884921delC	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.320delC	9.37:g.133884921delC	ENSP00000354360:p.Ser107fs					LAMC3_ENST00000480883.1_3'UTR	p.S107fs	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	1	453	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	107			Laminin N-terminal.		B1APX9|B1APY0|Q59H72	Frame_Shift_Del	DEL	ENST00000361069.4	37	c.320delC	CCDS6938.1																																																																																				0.701	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		2	4						2	4	---	---	---	---
GAS2	2620	broad.mit.edu	37	11	22770774	22770774	+	Frame_Shift_Del	DEL	A	A	-			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr11:22770774delA	ENST00000454584.2	+	6	887	c.582delA	c.(580-582)ggafs	p.G194fs	GAS2_ENST00000433790.1_Frame_Shift_Del_p.G194fs|GAS2_ENST00000278187.3_Frame_Shift_Del_p.G194fs	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	194					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|regulation of cell shape (GO:0008360)	actin filament (GO:0005884)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						AGTCTTCTGGAAAAAAGAGTA	0.398																																						ENST00000454584.2																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						c.(580-582)ggfs		growth arrest-specific 2							88.0	89.0	89.0					11																	22770774		2203	4299	6502	SO:0001589	frameshift_variant	2620				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane		g.chr11:22770774delA	BC040470	CCDS7858.1	11p14.3	2005-10-11			ENSG00000148935	ENSG00000148935			4167	protein-coding gene	gene with protein product		602835				9521882	Standard	NM_005256		Approved		uc001mqo.3	O43903	OTTHUMG00000166071	ENST00000454584.2:c.582delA	11.37:g.22770774delA	ENSP00000401145:p.Gly194fs					GAS2_ENST00000278187.3_Frame_Shift_Del_p.G194fs|GAS2_ENST00000433790.1_Frame_Shift_Del_p.G194fs	p.G194fs	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN			6	887	+			194					B2R9C8|D3DQZ0|Q6ICV8|Q7Z3X8	Frame_Shift_Del	DEL	ENST00000454584.2	37	c.582delA	CCDS7858.1																																																																																				0.398	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387717.1	NM_177553		17	51						17	51	---	---	---	---
MYRF	745	broad.mit.edu	37	11	61544274	61544274	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr11:61544274delG	ENST00000278836.5	+	11	1611	c.1515delG	c.(1513-1515)gtgfs	p.V506fs	TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Frame_Shift_Del_p.V497fs|MYRF_ENST00000327797.1_Frame_Shift_Del_p.V131fs|MYRF_ENST00000389602.4_5'Flank	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	506					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TCATGCTGGTGGTGGCCCTCC	0.632											OREG0021012	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000278836.5																			0											c.(1513-1515)gtfs		myelin regulatory factor							64.0	51.0	56.0					11																	61544274		2201	4299	6500	SO:0001589	frameshift_variant	745							g.chr11:61544274delG		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.1515delG	11.37:g.61544274delG	ENSP00000278836:p.Val506fs		OREG0021012	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1054	MYRF_ENST00000327797.1_Frame_Shift_Del_p.V131fs|MYRF_ENST00000265460.5_Frame_Shift_Del_p.V497fs|TMEM258_ENST00000535042.1_Intron	p.V506fs	NM_001127392.1	NP_001120864.1					11	1611	+								O43582|Q9P1Q6	Frame_Shift_Del	DEL	ENST00000278836.5	37	c.1515delG	CCDS44622.1																																																																																				0.632	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		2	4						2	4	---	---	---	---
WSB2	55884	broad.mit.edu	37	12	118473017	118473018	+	Splice_Site	INS	-	-	C			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr12:118473017_118473018insC	ENST00000315436.3	-	7	1086		c.e7+1		WSB2_ENST00000544233.1_Splice_Site|WSB2_ENST00000536738.1_5'Flank|WSB2_ENST00000441406.2_Splice_Site|WSB2_ENST00000535496.1_Splice_Site|WSB2_ENST00000542304.1_Splice_Site	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2						intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCTCTTCGTTACCTGTCATCTG	0.52											OREG0022175	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000315436.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.e7+1		WD repeat and SOCS box containing 2																																				SO:0001630	splice_region_variant	55884				intracellular signal transduction			g.chr12:118473017_118473018insC	AF038187	CCDS9186.1, CCDS61251.1, CCDS61252.1	12q24.23	2013-01-09	2011-01-25		ENSG00000176871	ENSG00000176871		"""WD repeat domain containing"""	19222	protein-coding gene	gene with protein product			"""WD repeat and SOCS box-containing 2"""			12076535	Standard	NM_018639		Approved	SBA2, MGC10210	uc001twr.2	Q9NYS7	OTTHUMG00000168885	ENST00000315436.3:c.944+1->G	12.37:g.118473019_118473019dupC			OREG0022175	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1488	WSB2_ENST00000535496.1_Splice_Site|WSB2_ENST00000542304.1_Splice_Site|WSB2_ENST00000441406.2_Splice_Site|WSB2_ENST00000544233.1_Splice_Site		NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN			7	1086	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)							B4DIE6|B4DPV6|Q9NRX9	Splice_Site	INS	ENST00000315436.3	37		CCDS9186.1																																																																																				0.520	WSB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401515.1	NM_018639	Intron	19	37						19	37	---	---	---	---
MMP25	64386	broad.mit.edu	37	16	3107600	3107603	+	Frame_Shift_Del	DEL	CTTT	CTTT	-			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr16:3107600_3107603delCTTT	ENST00000336577.4	+	7	1229_1232	c.992_995delCTTT	c.(991-996)actttcfs	p.TF331fs	RP11-473M20.7_ENST00000576250.1_RNA|RP11-473M20.7_ENST00000572574.1_RNA|RP11-473M20.7_ENST00000573130.1_RNA|RP11-473M20.7_ENST00000572930.1_RNA|RP11-473M20.7_ENST00000573878.1_RNA|RP11-473M20.7_ENST00000570949.1_RNA|RP11-473M20.7_ENST00000572427.1_RNA|RP11-473M20.7_ENST00000573953.1_RNA|RP11-473M20.7_ENST00000572222.1_RNA|RP11-473M20.7_ENST00000597579.1_RNA	NM_022468.4	NP_071913.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 25	338					negative regulation of macrophage chemotaxis (GO:0010760)	cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14					Marimastat(DB00786)	CGAGGGGAAACTTTCTTCTTCAAA	0.539																																					NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)	ENST00000336577.4																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						c.(991-996)acfs		matrix metallopeptidase 25																																				SO:0001589	frameshift_variant	64386				inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr16:3107600_3107603delCTTT	AF145442	CCDS10492.1	16p13.3	2008-02-05	2005-08-08			ENSG00000008516			14246	protein-coding gene	gene with protein product		608482	"""matrix metalloproteinase 25"", ""matrix metallopeptidase-like 1"""	MMPL1, MMP20		10628838, 10706098	Standard	NM_022468		Approved	MT6-MMP	uc002cth.3	Q9NPA2		ENST00000336577.4:c.992_995delCTTT	16.37:g.3107600_3107603delCTTT	ENSP00000337816:p.Thr331fs					RP11-473M20.7_ENST00000572574.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA|RP11-473M20.7_ENST00000573953.1_RNA	p.TF331fs	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN			7	1229_1232	+			331			Hemopexin-like 1.		Q96F04|Q96TE2	Frame_Shift_Del	DEL	ENST00000336577.4	37	c.992_995delCTTT	CCDS10492.1																																																																																				0.539	MMP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437116.1	NM_022468		13	103						13	103	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577095	7577096	+	Frame_Shift_Ins	INS	-	-	TCTC	rs587781525		TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr17:7577095_7577096insTCTC	ENST00000269305.4	-	8	1031_1032	c.842_843insGAGA	c.(841-843)gacfs	p.D281fs	TP53_ENST00000420246.2_Frame_Shift_Ins_p.D281fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.D281fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.D281fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Frame_Shift_Ins_p.D281fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	281	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726}.|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.D281E(28)|p.R282W(10)|p.D281G(10)|p.0?(8)|p.D281V(5)|p.D281D(5)|p.D281fs*63(2)|p.?(2)|p.R280_D281delRD(2)|p.D281A(2)|p.D281_R282>EW(2)|p.D281>AGPY(2)|p.A276_R283delACPGRDRR(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275fs*20(1)|p.R282fs*24(1)|p.D281R(1)|p.D281_R282delDR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CTGTGCGCCGGTCTCTCCCAGG	0.554		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		91	Substitution - Missense(56)|Deletion - In frame(8)|Whole gene deletion(8)|Substitution - coding silent(5)|Deletion - Frameshift(4)|Unknown(2)|Complex - frameshift(2)|Complex - insertion inframe(2)|Complex - compound substitution(2)|Insertion - Frameshift(1)|Insertion - In frame(1)	p.D281E(28)|p.R282W(10)|p.D281G(10)|p.0?(8)|p.D281V(5)|p.D281D(5)|p.D281fs*63(2)|p.?(2)|p.R280_D281delRD(2)|p.D281A(2)|p.D281_R282>EW(2)|p.D281>AGPY(2)|p.A276_R283delACPGRDRR(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275fs*20(1)|p.R282fs*24(1)|p.D281R(1)|p.D281_R282delDR(1)	haematopoietic_and_lymphoid_tissue(12)|skin(12)|ovary(11)|lung(10)|upper_aerodigestive_tract(9)|breast(8)|central_nervous_system(5)|bone(4)|large_intestine(3)|urinary_tract(3)|oesophagus(3)|liver(3)|stomach(2)|endometrium(2)|vulva(1)|genital_tract(1)|pancreas(1)|prostate(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM004343|CM056068	TP53	M		c.(841-843)gcgfs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577095_7577096insTCTC	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.839_842dupGAGA	17.37:g.7577096_7577099dupTCTC	ENSP00000269305:p.Asp281fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Frame_Shift_Ins_p.A281fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.A281fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.A281fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Frame_Shift_Ins_p.A281fs	p.A281fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	974_975	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	281		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Ins	INS	ENST00000269305.4	37	c.842_843insGAGA	CCDS11118.1																																																																																				0.554	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		14	18						14	18	---	---	---	---
SERPINB11	89778	broad.mit.edu	37	18	61388270	61388271	+	RNA	DEL	AC	AC	-	rs147551453		TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr18:61388270_61388271delAC	ENST00000382749.5	+	0	1019				SERPINB11_ENST00000544088.1_RNA|SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GTGCATGTTAACACACACACAC	0.386																																					Ovarian(27;496 784 5942 8975 23930)	ENST00000544088.1																			0				breast(1)|cervix(1)|kidney(1)|lung(3)	6								serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)																																						89778				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61388270_61388271delAC			18q21.33	2014-02-18	2009-01-22		ENSG00000206072	ENSG00000206072		"""Serine (or cysteine) peptidase inhibitors"""	14221	protein-coding gene	gene with protein product		615682	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11"", ""serpin peptidase inhibitor, clade B (ovalbumin), member 11"""			17562709, 24172014	Standard	XM_006722569		Approved	EPIPIN	uc002ljk.4	Q96P15	OTTHUMG00000060404		18.37:g.61388280_61388281delAC						SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000536691.1_RNA		NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN			0	836	+		Esophageal squamous(42;0.129)						A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	RNA	DEL	ENST00000382749.5	37																																																																																						0.386	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000207392.3	NM_080475		2	4						2	4	---	---	---	---
