#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
MYCBP2	23077	broad.mit.edu	37	13	77765887	77765887	+	Missense_Mutation	SNP	C	C	T			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr13:77765887C>T	ENST00000544440.2	-	28	3900	c.3883G>A	c.(3883-3885)Gca>Aca	p.A1295T	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.A1295T|MYCBP2_ENST00000407578.2_Missense_Mutation_p.A1333T					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CGGGCCCATGCCACATACCAC	0.428																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(3997-3999)Gca>Aca		MYC binding protein 2, E3 ubiquitin protein ligase							93.0	77.0	82.0					13																	77765887		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77765887C>T	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.3883G>A	13.37:g.77765887C>T	ENSP00000444596:p.Ala1295Thr					MYCBP2_ENST00000544440.2_Missense_Mutation_p.A1295T|MYCBP2_ENST00000357337.6_Missense_Mutation_p.A1295T|MYCBP2_ENST00000360084.5_5'UTR	p.A1333T	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	28	4263	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	1295						Missense_Mutation	SNP	ENST00000544440.2	37	c.3997G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.583342	0.96578	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.38077	1.17;1.16;1.17	5.55	5.55	0.83447	PHR (1);	0.000000	0.85682	D	0.000000	T	0.65015	0.2651	M	0.79926	2.475	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	T	0.67393	-0.5682	10	0.66056	D	0.02	.	19.8764	0.96873	0.0:1.0:0.0:0.0	.	1295	O75592	MYCB2_HUMAN	T	1295;1333;1295	ENSP00000349892:A1295T;ENSP00000384288:A1333T;ENSP00000444596:A1295T	ENSP00000349892:A1295T	A	-	1	0	MYCBP2	76663888	1.000000	0.71417	0.664000	0.29753	0.953000	0.61014	7.445000	0.80570	2.768000	0.95171	0.655000	0.94253	GCA		0.428	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		3	28	0	0	0	1	0	3	28				
CUTA	51596	broad.mit.edu	37	6	33385083	33385083	+	Missense_Mutation	SNP	C	C	T			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr6:33385083C>T	ENST00000488034.1	-	3	383	c.262G>A	c.(262-264)Gtg>Atg	p.V88M	CUTA_ENST00000492510.1_5'Flank|CUTA_ENST00000440279.3_Missense_Mutation_p.V65M|SYNGAP1_ENST00000418600.2_5'Flank|CUTA_ENST00000488478.1_Missense_Mutation_p.V88M|SYNGAP1_ENST00000293748.5_5'Flank|CUTA_ENST00000494751.1_Missense_Mutation_p.V65M|CUTA_ENST00000374500.5_Missense_Mutation_p.V107M|CUTA_ENST00000607266.1_Missense_Mutation_p.V65M|CUTA_ENST00000374496.3_Missense_Mutation_p.V65M	NM_001014837.1|NM_001014838.1|NM_001014840.1|NM_015921.2	NP_001014837.1|NP_001014838.1|NP_001014840.1|NP_057005.1	O60888	CUTA_HUMAN	cutA divalent cation tolerance homolog (E. coli)	88					protein localization (GO:0008104)|response to metal ion (GO:0010038)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	enzyme binding (GO:0019899)		SLC22A1/CUTA(2)	kidney(1)|lung(3)|urinary_tract(1)	5						TTCTCCACCACGGCCCTGGAG	0.537																																						ENST00000374500.5																		SLC22A1/CUTA(2)	0				kidney(1)|lung(3)|urinary_tract(1)	5						c.(319-321)Gtg>Atg		cutA divalent cation tolerance homolog (E. coli)							73.0	74.0	74.0					6																	33385083		2203	4300	6503	SO:0001583	missense	51596				protein localization|response to metal ion	membrane	enzyme binding	g.chr6:33385083C>T	AF106943	CCDS4779.1, CCDS34432.1, CCDS34433.1	6p21.32	2008-02-04	2006-02-15	2006-02-15	ENSG00000112514	ENSG00000112514			21101	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 82"", ""acetylcholinesterase-associated protein"""	C6orf82, ACHAP			Standard	XM_006715108		Approved		uc003oen.1	O60888	OTTHUMG00000031254	ENST00000488034.1:c.262G>A	6.37:g.33385083C>T	ENSP00000417544:p.Val88Met					CUTA_ENST00000494751.1_Missense_Mutation_p.V65M|CUTA_ENST00000440279.3_Missense_Mutation_p.V65M|CUTA_ENST00000488478.1_Missense_Mutation_p.V88M|CUTA_ENST00000607266.1_Missense_Mutation_p.V65M|CUTA_ENST00000488034.1_Missense_Mutation_p.V88M|CUTA_ENST00000374496.3_Missense_Mutation_p.V65M	p.V107M	NM_001014433.2	NP_001014433.1	O60888	CUTA_HUMAN			3	450	-			88					A2AB26|A2BEL4|Q3B784|Q5JXM9|Q5SU05|Q9NYQ9	Missense_Mutation	SNP	ENST00000488034.1	37	c.319G>A	CCDS34433.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.136754	0.56936	.	.	ENSG00000112514	ENST00000374500;ENST00000440279;ENST00000488034;ENST00000494751;ENST00000488478;ENST00000374496	.	.	.	5.31	4.43	0.53597	Nitrogen regulatory PII-like, alpha/beta (1);	0.184707	0.48767	D	0.000176	T	0.59702	0.2213	L	0.49640	1.575	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.71184	0.953;0.972	T	0.65809	-0.6078	9	0.87932	D	0	-2.0359	11.1377	0.48383	0.184:0.816:0.0:0.0	.	107;88	O60888-2;O60888	.;CUTA_HUMAN	M	107;65;88;65;88;65	.	ENSP00000363620:V65M	V	-	1	0	CUTA	33493061	0.634000	0.27190	1.000000	0.80357	0.618000	0.37518	0.543000	0.23237	1.453000	0.47775	0.561000	0.74099	GTG		0.537	CUTA-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076541.3	NM_015921		22	33	0	0	0	1	0	22	33				
MED13	9969	broad.mit.edu	37	17	60062197	60062197	+	Missense_Mutation	SNP	T	T	C			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr17:60062197T>C	ENST00000397786.2	-	14	2582	c.2506A>G	c.(2506-2508)Aca>Gca	p.T836A		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	836					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GATGGTGGTGTAGGATACATT	0.323																																						ENST00000397786.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(2506-2508)Aca>Gca		mediator complex subunit 13							68.0	60.0	63.0					17																	60062197		1815	4068	5883	SO:0001583	missense	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60062197T>C	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.2506A>G	17.37:g.60062197T>C	ENSP00000380888:p.Thr836Ala						p.T836A	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN			14	2582	-			836					B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	c.2506A>G	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.442896	0.83993	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	D	0.89875	-2.58	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.94709	0.8293	M	0.84082	2.675	0.80722	D	1	D	0.64830	0.994	D	0.70716	0.97	D	0.94936	0.8087	10	0.62326	D	0.03	-29.6291	16.8061	0.85666	0.0:0.0:0.0:1.0	.	836	Q9UHV7	MED13_HUMAN	A	836;835	ENSP00000380888:T836A	ENSP00000262436:T835A	T	-	1	0	MED13	57416979	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.698000	0.84413	2.367000	0.80283	0.528000	0.53228	ACA		0.323	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		7	15	0	0	0	1	0	7	15				
OR2A2	442361	broad.mit.edu	37	7	143806868	143806868	+	Silent	SNP	C	C	T			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr7:143806868C>T	ENST00000408979.2	+	1	262	c.193C>T	c.(193-195)Ctg>Ttg	p.L65L		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					CCTCTCACACCTGGCCATCAT	0.453																																						ENST00000408979.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22						c.(193-195)Ctg>Ttg		olfactory receptor, family 2, subfamily A, member 2							215.0	211.0	212.0					7																	143806868		2105	4252	6357	SO:0001819	synonymous_variant	442361				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143806868C>T		CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989		"""GPCR / Class A : Olfactory receptors"""	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P			Standard	NM_001005480		Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.193C>T	7.37:g.143806868C>T							p.L65L	NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN			1	262	+	Melanoma(164;0.0783)		65					B2RN85|Q8NGT6	Silent	SNP	ENST00000408979.2	37	c.193C>T	CCDS43671.1																																																																																				0.453	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1			7	194	0	0	0	1	0	7	194				
PIGX	54965	broad.mit.edu	37	3	196460770	196460770	+	Silent	SNP	A	A	G	rs144273559	byFrequency	TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr3:196460770A>G	ENST00000314118.4	+	6	933	c.651A>G	c.(649-651)ctA>ctG	p.L217L	PIGX_ENST00000541663.1_Silent_p.L168L	NM_017861.3	NP_060331.3	Q8TBF5	PIGX_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class X	258					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(5)|lung(4)|stomach(1)	11	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00322)		ATTTTTCCCTATAAGTTTTAT	0.333																																						ENST00000314118.4																			0				endometrium(1)|large_intestine(5)|lung(4)|stomach(1)	11						c.(649-651)ctA>ctG		phosphatidylinositol glycan anchor biosynthesis, class X							148.0	136.0	140.0					3																	196460770		2202	4300	6502	SO:0001819	synonymous_variant	54965				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane		g.chr3:196460770A>G	AK000529	CCDS3320.1, CCDS3320.2, CCDS54701.1	3q29	2013-02-26	2006-06-28		ENSG00000163964	ENSG00000163964		"""Phosphatidylinositol glycan anchor biosynthesis"""	26046	protein-coding gene	gene with protein product		610276	"""phosphatidylinositol glycan, class X"""			15635094	Standard	NM_017861		Approved	FLJ20522	uc010iaj.3	Q8TBF5	OTTHUMG00000155535	ENST00000314118.4:c.651A>G	3.37:g.196460770A>G						PIGX_ENST00000541663.1_Silent_p.L168L	p.L217L	NM_017861.3	NP_060331.3	Q8TBF5	PIGX_HUMAN	Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00322)	6	933	+	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		258					Q9NWZ2	Silent	SNP	ENST00000314118.4	37	c.651A>G																																																																																					0.333	PIGX-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017861		21	42	0	0	0	1	0	21	42				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			4	51	0	0	0	1	0	4	51				
RECQL	5965	broad.mit.edu	37	12	21630844	21630844	+	Missense_Mutation	SNP	T	T	C	rs200538229		TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr12:21630844T>C	ENST00000444129.2	-	7	1228	c.760A>G	c.(760-762)Act>Gct	p.T254A	RECQL_ENST00000421138.2_Missense_Mutation_p.T254A	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	254	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						GCAGTTGCAGTCAGCCCAATT	0.368								Other identified genes with known or suspected DNA repair function																														ENST00000444129.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(760-762)Act>Gct	Other identified genes with known or suspected DNA repair function	RecQ protein-like (DNA helicase Q1-like)							96.0	95.0	96.0					12																	21630844		2203	4300	6503	SO:0001583	missense	5965				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding	g.chr12:21630844T>C	D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"""DNA helicase Q1-like"""	600537	"""RecQ protein-like (DNA helicase Q1-like)"""			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.760A>G	12.37:g.21630844T>C	ENSP00000416739:p.Thr254Ala					RECQL_ENST00000421138.2_Missense_Mutation_p.T254A	p.T254A	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN			7	1228	-			254			Helicase ATP-binding.		A8K6G2	Missense_Mutation	SNP	ENST00000444129.2	37	c.760A>G	CCDS31756.1	.	.	.	.	.	.	.	.	.	.	T	16.19	3.053472	0.55218	.	.	ENSG00000004700	ENST00000444129;ENST00000421138	T;T	0.17370	2.28;2.28	4.8	4.8	0.61643	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.64193	0.2576	H	0.99794	4.785	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.82145	-0.0602	10	0.87932	D	0	-4.2972	14.8094	0.69982	0.0:0.0:0.0:1.0	.	254	P46063	RECQ1_HUMAN	A	254	ENSP00000416739:T254A;ENSP00000395449:T254A	ENSP00000395449:T254A	T	-	1	0	RECQL	21522111	1.000000	0.71417	0.933000	0.37362	0.004000	0.04260	7.576000	0.82467	2.144000	0.66660	0.528000	0.53228	ACT		0.368	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402371.1	NM_002907		33	60	0	0	0	1	0	33	60				
UGT1A1	54658	broad.mit.edu	37	2	234526724	234526724	+	Missense_Mutation	SNP	G	G	T			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr2:234526724G>T	ENST00000373450.4	+	1	434	c.371G>T	c.(370-372)tGc>tTc	p.C124F		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	127					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	TTTTCGCATTGCAGGAGTTTG	0.353																																						ENST00000373450.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30						c.(370-372)tGc>tTc									119.0	127.0	124.0					2																	234526724		2203	4300	6503	SO:0001583	missense	0							g.chr2:234526724G>T	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000373450.4:c.371G>T	2.37:g.234526724G>T	ENSP00000362549:p.Cys124Phe						p.C124F	NM_019076.4	NP_061949.3				Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	434	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)						A6NJC3|B8K286	Missense_Mutation	SNP	ENST00000373450.4	37	c.371G>T	CCDS33402.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.721590	0.30503	.	.	ENSG00000242366	ENST00000373450	T	0.79247	-1.25	3.78	3.78	0.43462	.	.	.	.	.	D	0.89227	0.6655	M	0.90019	3.08	0.42975	D	0.994448	D;D	0.61697	0.99;0.99	D;D	0.66602	0.945;0.945	D	0.92302	0.5850	9	0.87932	D	0	.	16.2097	0.82148	0.0:0.0:1.0:0.0	.	124;124	Q5DSZ6;Q9HAW9	.;UD18_HUMAN	F	124	ENSP00000362549:C124F	ENSP00000362549:C124F	C	+	2	0	UGT1A8	234191463	1.000000	0.71417	0.131000	0.22000	0.252000	0.25951	6.854000	0.75440	2.122000	0.65172	0.505000	0.49811	TGC		0.353	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130994.1			5	146	1	0	1.024e-07	1	1.08308e-07	5	146				
GPNMB	10457	broad.mit.edu	37	7	23300355	23300355	+	Silent	SNP	A	A	G			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr7:23300355A>G	ENST00000381990.2	+	6	1142	c.981A>G	c.(979-981)ccA>ccG	p.P327P	GPNMB_ENST00000258733.4_Silent_p.P327P|GPNMB_ENST00000453162.2_Silent_p.P269P|GPNMB_ENST00000539136.1_Silent_p.P228P	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	327	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.|Poly-Pro.				bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			CGCCACCGCCACCACCACCCA	0.502																																						ENST00000258733.4																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41						c.(979-981)ccA>ccG		glycoprotein (transmembrane) nmb							120.0	129.0	126.0					7																	23300355		2203	4300	6503	SO:0001819	synonymous_variant	10457				negative regulation of cell proliferation	melanosome		g.chr7:23300355A>G	X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"""transmembrane glycoprotein"", ""glycoprotein NMB"", ""glycoprotein nmb-like protein"", ""osteoactivin"""	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.981A>G	7.37:g.23300355A>G						GPNMB_ENST00000539136.1_Silent_p.P228P|GPNMB_ENST00000381990.2_Silent_p.P327P|GPNMB_ENST00000453162.2_Silent_p.P269P	p.P327P			Q14956	GPNMB_HUMAN	GBM - Glioblastoma multiforme(13;0.154)		6	1276	+			327			PKD.|Poly-Pro.		A4D155|Q6UVX1|Q8N1A1	Silent	SNP	ENST00000381990.2	37	c.981A>G	CCDS34610.1																																																																																				0.502	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340		48	114	0	0	0	1	0	48	114				
SMAD7	4092	broad.mit.edu	37	18	46447811	46447811	+	Silent	SNP	G	G	A	rs1052572		TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr18:46447811G>A	ENST00000262158.2	-	4	1498	c.1212C>T	c.(1210-1212)ggC>ggT	p.G404G	SMAD7_ENST00000591805.1_Silent_p.G189G|SMAD7_ENST00000585986.1_5'Flank|SMAD7_ENST00000589634.1_Silent_p.G403G	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	404	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				adherens junction assembly (GO:0034333)|artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|cellular protein complex localization (GO:0034629)|cellular response to transforming growth factor beta stimulus (GO:0071560)|gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of cardiac muscle contraction (GO:0055117)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|response to laminar fluid shear stress (GO:0034616)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activin binding (GO:0048185)|beta-catenin binding (GO:0008013)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity (GO:0030617)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					TGTAGCACTGGCCCCAGCCCT	0.617																																						ENST00000262158.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10						c.(1210-1212)ggC>ggT		SMAD family member 7							46.0	44.0	44.0					18																	46447811		2203	4300	6503	SO:0001819	synonymous_variant	4092				adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	g.chr18:46447811G>A	AF010193	CCDS11936.1, CCDS54186.1, CCDS59317.1	18q21.1	2006-11-06	2006-11-06	2004-05-26	ENSG00000101665	ENSG00000101665		"""SMADs"""	6773	protein-coding gene	gene with protein product		602932	"""MAD, mothers against decapentaplegic homolog 7 (Drosophila)"", ""SMAD, mothers against DPP homolog 7 (Drosophila)"""	MADH8, MADH7		9256479, 9730599	Standard	NM_005904		Approved		uc002ldg.3	O15105	OTTHUMG00000132655	ENST00000262158.2:c.1212C>T	18.37:g.46447811G>A						SMAD7_ENST00000591805.1_Silent_p.G189G|SMAD7_ENST00000589634.1_Silent_p.G403G	p.G404G	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN			4	1498	-	Colorectal(1;0.0518)		404			MH2.		B7Z773|K7EQ10|O14740|Q6DK23	Silent	SNP	ENST00000262158.2	37	c.1212C>T	CCDS11936.1																																																																																				0.617	SMAD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255906.1	NM_005904		8	32	0	0	0	1	0	8	32				
LIFR	3977	broad.mit.edu	37	5	38493716	38493716	+	Missense_Mutation	SNP	A	A	C			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr5:38493716A>C	ENST00000263409.4	-	14	2219	c.2057T>G	c.(2056-2058)aTa>aGa	p.I686R	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.I686R	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	686	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ACCAGATTCTATTACAGTTTC	0.398			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	ENST00000263409.4				Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		0				NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78						c.(2056-2058)aTa>aGa		leukemia inhibitory factor receptor alpha							123.0	116.0	118.0					5																	38493716		2203	4300	6503	SO:0001583	missense	3977				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38493716A>C	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.2057T>G	5.37:g.38493716A>C	ENSP00000263409:p.Ile686Arg					LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.I686R	p.I686R	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN			14	2219	-	all_lung(31;0.00021)		686			Fibronectin type-III 5.		Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	c.2057T>G	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	A	18.92	3.724710	0.68959	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.55052	0.54;0.54	5.68	5.68	0.88126	Fibronectin, type III (1);	0.297066	0.38663	N	0.001605	T	0.69628	0.3132	M	0.79258	2.445	0.33249	D	0.558239	D	0.64830	0.994	P	0.60173	0.87	T	0.80966	-0.1146	10	0.87932	D	0	-23.4255	13.9631	0.64193	1.0:0.0:0.0:0.0	.	686	P42702	LIFR_HUMAN	R	686	ENSP00000263409:I686R;ENSP00000398368:I686R	ENSP00000263409:I686R	I	-	2	0	LIFR	38529473	0.775000	0.28604	0.056000	0.19401	0.014000	0.08584	3.959000	0.56744	2.289000	0.77006	0.482000	0.46254	ATA		0.398	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		45	66	0	0	0	1	0	45	66				
NYNRIN	57523	broad.mit.edu	37	14	24880387	24880387	+	Silent	SNP	G	G	A			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr14:24880387G>A	ENST00000382554.3	+	5	2838	c.2520G>A	c.(2518-2520)caG>caA	p.Q840Q		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	840					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCACCTGGCAGCTGAAGAAGA	0.592											OREG0022626	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(2518-2520)caG>caA		NYN domain and retroviral integrase containing							109.0	121.0	117.0					14																	24880387		2068	4205	6273	SO:0001819	synonymous_variant	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24880387G>A	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.2520G>A	14.37:g.24880387G>A			OREG0022626	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	774		p.Q840Q	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			5	2838	+			840					Q6P153|Q86TR3|Q9HAC4	Silent	SNP	ENST00000382554.3	37	c.2520G>A	CCDS45090.1																																																																																				0.592	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			4	135	0	0	0	1	0	4	135				
CACNA1S	779	broad.mit.edu	37	1	201047221	201047221	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr1:201047221G>A	ENST00000362061.3	-	11	1631	c.1405C>T	c.(1405-1407)Cgg>Tgg	p.R469W	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R469W	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	469					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AGCAGCACCCGGTTGGCAATG	0.587																																						ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(1405-1407)Cgg>Tgg		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						111.0	107.0	108.0					1																	201047221		2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201047221G>A	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1405C>T	1.37:g.201047221G>A	ENSP00000355192:p.Arg469Trp					CACNA1S_ENST00000367338.3_Missense_Mutation_p.R469W	p.R469W	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			11	1631	-			469					A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.1405C>T	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987871	0.35036	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.98419	-4.92;-4.92	4.63	3.64	0.41730	Ion transport (1);	0.672691	0.15229	N	0.273539	D	0.97340	0.9130	N	0.21282	0.65	0.36168	D	0.848559	D	0.76494	0.999	D	0.70935	0.971	D	0.96978	0.9713	10	0.39692	T	0.17	.	11.8301	0.52290	0.0:0.0:0.6942:0.3058	.	469	Q13698	CAC1S_HUMAN	W	469	ENSP00000355192:R469W;ENSP00000356307:R469W	ENSP00000355192:R469W	R	-	1	2	CACNA1S	199313844	0.854000	0.29725	0.997000	0.53966	0.330000	0.28571	1.214000	0.32419	2.262000	0.75019	0.643000	0.83706	CGG		0.587	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		30	43	0	0	0	1	0	30	43				
OBSCN	84033	broad.mit.edu	37	1	228558822	228558822	+	Missense_Mutation	SNP	C	C	A			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr1:228558822C>A	ENST00000422127.1	+	94	20387	c.20343C>A	c.(20341-20343)caC>caA	p.H6781Q	OBSCN_ENST00000366707.4_Missense_Mutation_p.H4415Q|OBSCN_ENST00000570156.2_Missense_Mutation_p.H7738Q	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6781					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TAGCCCGGCACCTCTGCAGGG	0.657																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(23212-23214)caC>caA		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							29.0	34.0	32.0					1																	228558822		2083	4212	6295	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228558822C>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.20343C>A	1.37:g.228558822C>A	ENSP00000409493:p.His6781Gln					OBSCN_ENST00000422127.1_Missense_Mutation_p.H6781Q|OBSCN_ENST00000366707.4_Missense_Mutation_p.H4415Q	p.H7738Q	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			105	23288	+		Prostate(94;0.0405)	6781			Protein kinase 2.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.23214C>A	CCDS58065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.44|11.44	1.640587|1.640587	0.29157|0.29157	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000422127;ENST00000366707|ENST00000441106	T;T|.	0.63744|.	-0.06;0.01|.	4.79|4.79	3.88|3.88	0.44766|0.44766	Protein kinase-like domain (1);|.	.|.	.|.	.|.	.|.	T|T	0.62660|0.62660	0.2446|0.2446	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	B|.	0.26195|.	0.144|.	B|.	0.19148|.	0.024|.	T|T	0.61058|0.61058	-0.7139|-0.7139	9|5	0.26408|.	T|.	0.33|.	.|.	13.1463|13.1463	0.59463|0.59463	0.0:0.9225:0.0:0.0775|0.0:0.9225:0.0:0.0775	.|.	6781|.	Q5VST9|.	OBSCN_HUMAN|.	Q|T	6781;4415|1398	ENSP00000409493:H6781Q;ENSP00000355668:H4415Q|.	ENSP00000355668:H4415Q|.	H|P	+|+	3|1	2|0	OBSCN|OBSCN	226625445|226625445	0.625000|0.625000	0.27111|0.27111	0.999000|0.999000	0.59377|0.59377	0.090000|0.090000	0.18270|0.18270	-0.079000|-0.079000	0.11357|0.11357	1.244000|1.244000	0.43870|0.43870	0.555000|0.555000	0.69702|0.69702	CAC|CCT		0.657	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		15	30	1	0	1.3612e-06	1	1.41257e-06	15	30				
MAD2L1	4085	broad.mit.edu	37	4	120982029	120982029	+	Splice_Site	SNP	A	A	G			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr4:120982029A>G	ENST00000296509.6	-	4	784	c.445T>C	c.(445-447)Tgt>Cgt	p.C149R		NM_002358.3	NP_002349.1	Q13257	MD2L1_HUMAN	MAD2 mitotic arrest deficient-like 1 (yeast)	149	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(2)|kidney(2)|large_intestine(2)|lung(3)	9						TAATACTTACAAGAAACTTCC	0.368																																						ENST00000296509.5																			0				breast(2)|kidney(2)|large_intestine(2)|lung(3)	9						c.e4+1		MAD2 mitotic arrest deficient-like 1 (yeast)							43.0	43.0	43.0					4																	120982029		2203	4300	6503	SO:0001630	splice_region_variant	4085				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of apoptosis|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of mitotic cell cycle spindle assembly checkpoint	condensed chromosome kinetochore|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity	g.chr4:120982029A>G	U65410	CCDS3715.1	4q27	2013-01-17	2001-11-28		ENSG00000164109	ENSG00000164109			6763	protein-coding gene	gene with protein product		601467	"""MAD2 (mitotic arrest deficient, yeast, homolog)-like 1"""			8824189, 9345911	Standard	NM_002358		Approved	MAD2, HSMAD2	uc003idl.2	Q13257	OTTHUMG00000132967	ENST00000296509.6:c.445+1T>C	4.37:g.120982029A>G							p.C149_splice	NM_002358.3	NP_002349.1	Q13257	MD2L1_HUMAN			4	784	-			149			HORMA.		Q53F56|Q548X9|Q6IRW7|Q8IZX3	Splice_Site	SNP	ENST00000296509.6	37	c.445_splice	CCDS3715.1	.	.	.	.	.	.	.	.	.	.	A	18.35	3.605236	0.66445	.	.	ENSG00000164109	ENST00000296509	.	.	.	5.03	5.03	0.67393	DNA-binding HORMA (4);	0.000000	0.85682	D	0.000000	T	0.80889	0.4710	M	0.86651	2.83	0.80722	D	1	D	0.71674	0.998	D	0.71656	0.974	D	0.84164	0.0430	8	.	.	.	-12.6294	15.0672	0.72005	1.0:0.0:0.0:0.0	.	149	Q13257	MD2L1_HUMAN	R	149	.	.	C	-	1	0	MAD2L1	121201477	1.000000	0.71417	0.955000	0.39395	0.545000	0.35147	8.587000	0.90810	2.025000	0.59659	0.459000	0.35465	TGT		0.368	MAD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256525.2		Missense_Mutation	7	10	0	0	0	1	0	7	10				
CREBRF	153222	broad.mit.edu	37	5	172517939	172517939	+	Missense_Mutation	SNP	A	A	T			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr5:172517939A>T	ENST00000296953.2	+	4	1076	c.757A>T	c.(757-759)Agc>Tgc	p.S253C	CREBRF_ENST00000522692.1_Missense_Mutation_p.S253C|CREBRF_ENST00000540014.1_Missense_Mutation_p.S253C|CREBRF_ENST00000520420.1_Missense_Mutation_p.S253C	NM_153607.2	NP_705835.2	Q8IUR6	CRERF_HUMAN	CREB3 regulatory factor	253					negative regulation of endoplasmic reticulum unfolded protein response (GO:1900102)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular transport (GO:0032388)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein transport (GO:0051222)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GCCCTTGTTGAGCCAGATTCA	0.443																																						ENST00000540014.1																			0											c.(757-759)Agc>Tgc		CREB3 regulatory factor							71.0	71.0	71.0					5																	172517939		2203	4300	6503	SO:0001583	missense	153222						protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:172517939A>T	AY139008	CCDS34293.1, CCDS54948.1	5q35.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164463	ENSG00000164463			24050	protein-coding gene	gene with protein product	"""luman/CREB3 recruitment factor"""		"""chromosome 5 open reading frame 41"""	C5orf41		18391022	Standard	NM_153607		Approved	LRF	uc003mch.3	Q8IUR6	OTTHUMG00000163322	ENST00000296953.2:c.757A>T	5.37:g.172517939A>T	ENSP00000296953:p.Ser253Cys					CREBRF_ENST00000296953.2_Missense_Mutation_p.S253C|CREBRF_ENST00000522692.1_Missense_Mutation_p.S253C|CREBRF_ENST00000520420.1_Missense_Mutation_p.S253C	p.S253C			Q8IUR6	CE041_HUMAN			4	1076	+			253					B3DFH2|B3KW49|D3DQM2|F5GXN3|Q5HYG4|Q5HYK0|Q86YR3|Q8IZG1	Missense_Mutation	SNP	ENST00000296953.2	37	c.757A>T	CCDS34293.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.028432	0.75390	.	.	ENSG00000164463	ENST00000522692;ENST00000296953;ENST00000540014;ENST00000520420;ENST00000538538;ENST00000393776	T;T	0.49720	0.77;0.77	5.43	5.43	0.79202	.	0.212395	0.49916	D	0.000123	T	0.54791	0.1880	L	0.32530	0.975	0.54753	D	0.999984	D;D	0.69078	0.99;0.997	P;P	0.59889	0.785;0.865	T	0.58901	-0.7554	10	0.72032	D	0.01	.	15.4644	0.75387	1.0:0.0:0.0:0.0	.	253;253	Q8IUR6;Q8IUR6-2	CE041_HUMAN;.	C	253	ENSP00000296953:S253C;ENSP00000440075:S253C	ENSP00000296953:S253C	S	+	1	0	C5orf41	172450545	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.116000	0.57871	2.060000	0.61445	0.460000	0.39030	AGC		0.443	CREBRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372667.1	NM_153607		5	79	0	0	0	1	0	5	79				
C20orf166-AS1	253868	broad.mit.edu	37	20	61143780	61143780	+	RNA	SNP	C	C	T	rs576312365		TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr20:61143780C>T	ENST00000475015.1	-	0	558				C20orf166-AS1_ENST00000436101.1_RNA|C20orf166-AS1_ENST00000412495.1_RNA			Q96NR2	C2AS1_HUMAN	C20orf166 antisense RNA 1																		CTCCTGCGTCCGCCCTCCGCT	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		17086	0.001		0.0	False		,,,				2504	0.0					ENST00000475015.1																			0																				101.0	93.0	96.0					20																	61143780		2203	4299	6502			0							g.chr20:61143780C>T	AK054875		20q13.33	2012-10-12	2012-08-15	2011-08-10	ENSG00000174403	ENSG00000174403		"""Long non-coding RNAs"""	26393	non-coding RNA	RNA, long non-coding			"""chromosome 20 open reading frame 200"", ""non-protein coding RNA 335"", ""C20orf166 antisense RNA 1 (non-protein coding)"""	C20orf200, NCRNA00335			Standard	NR_033263		Approved	FLJ30313	uc002ycz.3	Q96NR2	OTTHUMG00000048002		20.37:g.61143780C>T						C20orf166-AS1_ENST00000412495.1_RNA								0	558	-								Q52LN1	RNA	SNP	ENST00000475015.1	37																																																																																						0.667	C20orf166-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000109266.2	NR_033263		14	156	0	0	0	1	0	14	156				
DCAF4L2	138009	broad.mit.edu	37	8	88886040	88886040	+	Missense_Mutation	SNP	T	T	C			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr8:88886040T>C	ENST00000319675.3	-	1	256	c.160A>G	c.(160-162)Atg>Gtg	p.M54V		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	54										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TTCCTCTGCATGCAGCTTACA	0.507																																						ENST00000319675.3																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						c.(160-162)Atg>Gtg		DDB1 and CUL4 associated factor 4-like 2							119.0	108.0	112.0					8																	88886040		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88886040T>C	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.160A>G	8.37:g.88886040T>C	ENSP00000316496:p.Met54Val						p.M54V	NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN			1	256	-			54						Missense_Mutation	SNP	ENST00000319675.3	37	c.160A>G	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	T	9.013	0.982984	0.18889	.	.	ENSG00000176566	ENST00000319675	T	0.68624	-0.34	1.92	-3.84	0.04256	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.64768	0.2628	M	0.71581	2.175	0.09310	N	1	P	0.51240	0.943	P	0.53146	0.719	T	0.59273	-0.7485	10	0.48119	T	0.1	.	3.6001	0.08021	0.0:0.188:0.4621:0.35	.	54	Q8NA75	DC4L2_HUMAN	V	54	ENSP00000316496:M54V	ENSP00000316496:M54V	M	-	1	0	DCAF4L2	88955156	1.000000	0.71417	0.008000	0.14137	0.093000	0.18481	1.018000	0.30002	-0.874000	0.04027	0.383000	0.25322	ATG		0.507	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		32	59	0	0	0	1	0	32	59				
JUP	3728	broad.mit.edu	37	17	39912083	39912083	+	Silent	SNP	G	G	A			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr17:39912083G>A	ENST00000393931.3	-	14	2269	c.2151C>T	c.(2149-2151)caC>caT	p.H717H	JUP_ENST00000393930.1_Silent_p.H717H|JUP_ENST00000310706.5_Silent_p.H717H|JUP_ENST00000540235.1_Intron	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	717					adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CCATGTCCATGTGCATCTCCA	0.637																																					Colon(16;42 520 6044 17852 28530)	ENST00000393931.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23						c.(2149-2151)caC>caT		junction plakoglobin							93.0	84.0	87.0					17																	39912083		2203	4300	6503	SO:0001819	synonymous_variant	3728				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr17:39912083G>A	AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"""Armadillo repeat containing"""	6207	protein-coding gene	gene with protein product		173325	"""catenin (cadherin-associated protein), gamma 80kDa"""	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.2151C>T	17.37:g.39912083G>A						JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Silent_p.H717H|JUP_ENST00000310706.5_Silent_p.H717H	p.H717H	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	14	2269	-		Breast(137;0.000162)	717					Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Silent	SNP	ENST00000393931.3	37	c.2151C>T	CCDS11407.1																																																																																				0.637	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1			17	21	0	0	0	1	0	17	21				
TAS2R42	353164	broad.mit.edu	37	12	11339091	11339091	+	Missense_Mutation	SNP	A	A	T			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr12:11339091A>T	ENST00000334266.1	-	1	452	c.453T>A	c.(451-453)ttT>ttA	p.F151L		NM_181429.1	NP_852094.1	Q7RTR8	T2R42_HUMAN	taste receptor, type 2, member 42	151					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			AGATATCAATAAATATTTCTA	0.289																																					Melanoma(15;352 722 10077 19546 48810)	ENST00000334266.1																			0				breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(451-453)ttT>ttA		taste receptor, type 2, member 42							38.0	40.0	39.0					12																	11339091		2196	4294	6490	SO:0001583	missense	353164				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11339091A>T	AX097739, AB199241	CCDS31747.1	12p13	2012-08-22			ENSG00000186136	ENSG00000186136		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18888	protein-coding gene	gene with protein product		613966				12679530	Standard	NM_181429		Approved	T2R24, T2R55, hT2R55, TAS2R55	uc001qzr.1	Q7RTR8	OTTHUMG00000168567	ENST00000334266.1:c.453T>A	12.37:g.11339091A>T	ENSP00000334050:p.Phe151Leu						p.F151L	NM_181429.1	NP_852094.1	Q7RTR8	T2R42_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.0455)		1	452	-			151					A2RRP4|Q645X0	Missense_Mutation	SNP	ENST00000334266.1	37	c.453T>A	CCDS31747.1	.	.	.	.	.	.	.	.	.	.	A	2.269	-0.367536	0.05069	.	.	ENSG00000186136	ENST00000334266	T	0.34072	1.38	3.7	-0.394	0.12434	GPCR, rhodopsin-like superfamily (1);	11.790700	0.00166	N	0.000014	T	0.23094	0.0558	N	0.26092	0.79	0.09310	N	1	B	0.20780	0.048	B	0.18871	0.023	T	0.08146	-1.0736	10	0.11485	T	0.65	.	4.309	0.10962	0.4642:0.4173:0.1185:0.0	.	151	Q7RTR8	T2R42_HUMAN	L	151	ENSP00000334050:F151L	ENSP00000334050:F151L	F	-	3	2	TAS2R42	11230358	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.249000	0.08842	0.157000	0.19338	0.533000	0.62120	TTT		0.289	TAS2R42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400243.1	NM_181429		4	40	0	0	0	1	0	4	40				
SSC4D	136853	broad.mit.edu	37	7	76029672	76029672	+	Missense_Mutation	SNP	C	C	T			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr7:76029672C>T	ENST00000275560.3	-	4	753	c.406G>A	c.(406-408)Gag>Aag	p.E136K	ZP3_ENST00000336517.4_Intron	NM_080744.1	NP_542782.1														autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						CTGCCGCACTCGCTCAGCGCA	0.672																																						ENST00000275560.3																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(406-408)Gag>Aag		scavenger receptor cysteine rich domain containing, group B (4 domains)							29.0	31.0	31.0					7																	76029672		2191	4282	6473	SO:0001583	missense	136853					extracellular region|membrane	scavenger receptor activity	g.chr7:76029672C>T																												ENST00000275560.3:c.406G>A	7.37:g.76029672C>T	ENSP00000275560:p.Glu136Lys					ZP3_ENST00000336517.4_Intron	p.E136K	NM_080744.1	NP_542782.1	Q8WTU2	SRB4D_HUMAN			4	753	-			136			SRCR 1.			Missense_Mutation	SNP	ENST00000275560.3	37	c.406G>A	CCDS5585.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.545195	0.65198	.	.	ENSG00000146700	ENST00000275560	T	0.51325	0.71	5.45	2.58	0.30949	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.179318	0.49916	D	0.000129	T	0.40067	0.1102	L	0.51914	1.62	0.80722	D	1	P	0.43826	0.818	B	0.43413	0.419	T	0.14755	-1.0461	10	0.12430	T	0.62	.	10.0474	0.42195	0.0:0.509:0.4181:0.0729	.	136	Q8WTU2	SRB4D_HUMAN	K	136	ENSP00000275560:E136K	ENSP00000275560:E136K	E	-	1	0	SRCRB4D	75867608	1.000000	0.71417	0.968000	0.41197	0.905000	0.53344	2.345000	0.44018	0.321000	0.23259	0.563000	0.77884	GAG		0.672	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253001.3			7	75	0	0	0	1	0	7	75				
ESF1	51575	broad.mit.edu	37	20	13763443	13763443	+	Missense_Mutation	SNP	T	T	C			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr20:13763443T>C	ENST00000202816.1	-	2	451	c.344A>G	c.(343-345)aAa>aGa	p.K115R	NDUFAF5_ENST00000378106.5_5'Flank|NDUFAF5_ENST00000463598.1_5'Flank	NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	115	Lys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						CTTGGTTTCTTTCTTTTTCTC	0.274																																						ENST00000202816.1																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						c.(343-345)aAa>aGa		ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)							33.0	36.0	35.0					20																	13763443		2162	4270	6432	SO:0001583	missense	51575				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm		g.chr20:13763443T>C		CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 6"""	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.344A>G	20.37:g.13763443T>C	ENSP00000202816:p.Lys115Arg						p.K115R	NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN			2	451	-			115			Lys-rich.		Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Missense_Mutation	SNP	ENST00000202816.1	37	c.344A>G	CCDS13117.1	.	.	.	.	.	.	.	.	.	.	T	6.845	0.525207	0.13066	.	.	ENSG00000089048	ENST00000202816	T	0.24908	1.83	4.73	3.62	0.41486	.	0.591795	0.16868	N	0.196257	T	0.17492	0.0420	L	0.29908	0.895	0.09310	N	1	P	0.46395	0.877	B	0.40741	0.339	T	0.06844	-1.0804	10	0.35671	T	0.21	.	7.6167	0.28163	0.0:0.1695:0.0:0.8305	.	115	Q9H501	ESF1_HUMAN	R	115	ENSP00000202816:K115R	ENSP00000202816:K115R	K	-	2	0	ESF1	13711443	0.869000	0.29996	0.313000	0.25210	0.112000	0.19704	2.249000	0.43169	0.647000	0.30713	0.482000	0.46254	AAA		0.274	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649		14	19	0	0	0	1	0	14	19				
PTGDR	5729	broad.mit.edu	37	14	52735165	52735165	+	Silent	SNP	C	C	T			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr14:52735165C>T	ENST00000306051.2	+	1	735	c.633C>T	c.(631-633)gtC>gtT	p.V211V	PTGDR_ENST00000553372.1_Silent_p.V211V	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	211					adenosine metabolic process (GO:0046085)|cellular response to prostaglandin D stimulus (GO:0071799)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|male sex determination (GO:0030238)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin D receptor activity (GO:0004956)|prostaglandin J receptor activity (GO:0001785)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	CGCTGCTGGTCCTCGCCACCG	0.677																																						ENST00000306051.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(631-633)gtC>gtT		prostaglandin D2 receptor (DP)	Nedocromil(DB00716)						78.0	63.0	68.0					14																	52735165		2203	4300	6503	SO:0001819	synonymous_variant	5729					integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding	g.chr14:52735165C>T	U31332	CCDS9707.1, CCDS61454.1	14q22.1	2012-08-08			ENSG00000168229	ENSG00000168229		"""GPCR / Class A : Prostanoid receptors"""	9591	protein-coding gene	gene with protein product		604687				7642548	Standard	NM_000953		Approved	DP, DP1, PTGDR1	uc001wzq.3	Q13258	OTTHUMG00000140299	ENST00000306051.2:c.633C>T	14.37:g.52735165C>T						PTGDR_ENST00000553372.1_Silent_p.V211V	p.V211V	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN			1	735	+	Breast(41;0.0639)|all_epithelial(31;0.0887)		211					G3V5L3|Q13250|Q13251|Q1ZZ52	Silent	SNP	ENST00000306051.2	37	c.633C>T	CCDS9707.1																																																																																				0.677	PTGDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276889.1	NM_000953		37	56	0	0	0	1	0	37	56				
PCDHB16	57717	broad.mit.edu	37	5	140563061	140563061	+	Silent	SNP	C	C	T			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr5:140563061C>T	ENST00000361016.2	+	1	2082	c.927C>T	c.(925-927)ttC>ttT	p.F309F		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	309	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGTAGATTTCGAAATGGTTA	0.443																																						ENST00000361016.2																			0				breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69						c.(925-927)ttC>ttT									85.0	93.0	90.0					5																	140563061		2202	4300	6502	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140563061C>T	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.927C>T	5.37:g.140563061C>T							p.F309F	NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2082	+			309			Cadherin 3.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	ENST00000361016.2	37	c.927C>T	CCDS4251.1																																																																																				0.443	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		20	73	0	0	0	1	0	20	73				
FH	2271	broad.mit.edu	37	1	241669308	241669308	+	Missense_Mutation	SNP	A	A	T			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr1:241669308A>T	ENST00000366560.3	-	6	937	c.899T>A	c.(898-900)cTt>cAt	p.L300H		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	300					cellular metabolic process (GO:0044237)|fumarate metabolic process (GO:0006106)|homeostasis of number of cells within a tissue (GO:0048873)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|tricarboxylic acid cycle enzyme complex (GO:0045239)	fumarate hydratase activity (GO:0004333)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		CTAACCTGTAAGTGCAGCCAC	0.398			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer																												Melanoma(148;1573 2486 7381 46575)	ENST00000366560.3			yes	Rec		hereditary leiomyomatosis and renal cell cancer	1	1q42.1	2271	"""Mis, N, F"""	fumarate hydratase			"""E, M"""		"""lieomyomatosis, renal"""			0				biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26						c.(898-900)cTt>cAt		fumarate hydratase							121.0	113.0	116.0					1																	241669308		2203	4300	6503	SO:0001583	missense	2271	Hereditary Leiomyomatosis and Renal Cell Cancer	Familial Cancer Database	HLRCC, Reed syndrome, Hereditary Multiple Leiomyomata of Skin and Uterus	fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity	g.chr1:241669308A>T	BC003108	CCDS1617.1	1q42.1	2014-09-17			ENSG00000091483	ENSG00000091483	4.2.1.2		3700	protein-coding gene	gene with protein product		136850					Standard	NM_000143		Approved	fumarase	uc001hyx.3	P07954	OTTHUMG00000039597	ENST00000366560.3:c.899T>A	1.37:g.241669308A>T	ENSP00000355518:p.Leu300His						p.L300H	NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)	6	937	-	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	300					B1ANK7	Missense_Mutation	SNP	ENST00000366560.3	37	c.899T>A	CCDS1617.1	.	.	.	.	.	.	.	.	.	.	A	15.28	2.787037	0.49997	.	.	ENSG00000091483	ENST00000366560	D	0.99488	-6.0	5.76	5.76	0.90799	Lyase 1, N-terminal (1);L-Aspartase-like (1);	0.127263	0.56097	D	0.000034	D	0.99542	0.9836	M	0.92268	3.29	0.80722	D	1	D	0.54397	0.966	P	0.61070	0.883	D	0.98113	1.0421	10	0.66056	D	0.02	-10.3015	14.0363	0.64646	1.0:0.0:0.0:0.0	.	300	P07954	FUMH_HUMAN	H	300	ENSP00000355518:L300H	ENSP00000355518:L300H	L	-	2	0	FH	239735931	1.000000	0.71417	0.998000	0.56505	0.653000	0.38743	8.673000	0.91186	2.191000	0.70037	0.533000	0.62120	CTT		0.398	FH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095490.1	NM_000143		35	47	0	0	0	1	0	35	47				
MYL6B	140465	broad.mit.edu	37	12	56548975	56548975	+	Missense_Mutation	SNP	G	G	C			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr12:56548975G>C	ENST00000553066.1	+	4	761	c.339G>C	c.(337-339)aaG>aaC	p.K113N	MYL6B_ENST00000552568.1_Missense_Mutation_p.K113N|MYL6_ENST00000550697.1_5'Flank|RP11-603J24.14_ENST00000548731.1_RNA|MYL6B_ENST00000550152.1_3'UTR|MYL6B_ENST00000550443.1_Missense_Mutation_p.K113N|MYL6B_ENST00000207437.5_Missense_Mutation_p.K113N			P14649	MYL6B_HUMAN	myosin, light chain 6B, alkali, smooth muscle and non-muscle	113					metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle tissue development (GO:0007519)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|unconventional myosin complex (GO:0016461)	calcium ion binding (GO:0005509)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			endometrium(2)|kidney(1)|large_intestine(4)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			GGAACCCCAAGAGTGATGGTG	0.522																																						ENST00000553066.1																			0				endometrium(2)|kidney(1)|large_intestine(4)	7						c.(337-339)aaG>aaC		myosin, light chain 6B, alkali, smooth muscle and non-muscle							72.0	78.0	76.0					12																	56548975		2203	4300	6503	SO:0001583	missense	140465				muscle filament sliding|skeletal muscle tissue development	cytosol|muscle myosin complex|unconventional myosin complex	calcium ion binding|motor activity|protein binding|structural constituent of muscle	g.chr12:56548975G>C	M31211	CCDS8905.1	12q13.2	2013-01-10	2006-09-29			ENSG00000196465		"""Myosins / Light chain"", ""EF-hand domain containing"""	29823	protein-coding gene	gene with protein product	"""myosin light chain 1 slow a"""	609930	"""myosin, light polypeptide 6B, alkali, smooth muscle and non-muscle"""			2602161, 2304459	Standard	NM_002475		Approved	MLC1SA	uc001sjs.3	P14649		ENST00000553066.1:c.339G>C	12.37:g.56548975G>C	ENSP00000450385:p.Lys113Asn					MYL6B_ENST00000550443.1_Missense_Mutation_p.K113N|MYL6B_ENST00000552568.1_Missense_Mutation_p.K113N|MYL6B_ENST00000207437.5_Missense_Mutation_p.K113N|RP11-603J24.14_ENST00000548731.1_RNA|MYL6B_ENST00000550152.1_3'UTR	p.K113N			P14649	MYL6B_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0979)		4	761	+			113						Missense_Mutation	SNP	ENST00000553066.1	37	c.339G>C	CCDS8905.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198573	0.38806	.	.	ENSG00000196465	ENST00000553066;ENST00000550443;ENST00000207437;ENST00000552568	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	4.28	0.541	0.17168	EF-hand-like domain (1);	0.155077	0.56097	D	0.000032	D	0.85762	0.5772	M	0.88640	2.97	0.44439	D	0.997361	B;D	0.65815	0.113;0.995	B;P	0.61874	0.103;0.895	D	0.84005	0.0345	10	0.52906	T	0.07	-20.1875	8.8779	0.35356	0.3118:0.0:0.6882:0.0	.	113;113	B4E368;P14649	.;MYL6B_HUMAN	N	113	ENSP00000450385:K113N;ENSP00000446643:K113N;ENSP00000207437:K113N;ENSP00000446965:K113N	ENSP00000207437:K113N	K	+	3	2	MYL6B	54835242	0.047000	0.20315	0.999000	0.59377	0.983000	0.72400	0.254000	0.18314	0.112000	0.17975	0.484000	0.47621	AAG		0.522	MYL6B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407920.2	NM_002475		5	109	0	0	0	1	0	5	109				
CCAR2	57805	broad.mit.edu	37	8	22464425	22464425	+	Missense_Mutation	SNP	T	T	C			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr8:22464425T>C	ENST00000308511.4	+	5	494	c.245T>C	c.(244-246)gTg>gCg	p.V82A	CCAR2_ENST00000389279.3_Missense_Mutation_p.V82A|CCAR2_ENST00000520861.1_5'UTR			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	82					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)										GCTGACAGTGTGGTGAAGGGC	0.602																																						ENST00000308511.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25						c.(244-246)gTg>gCg									59.0	56.0	57.0					8																	22464425		2203	4300	6503	SO:0001583	missense	0				apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity	g.chr8:22464425T>C	AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"""deleted in breast cancer"""	607359	"""KIAA1967"""	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.245T>C	8.37:g.22464425T>C	ENSP00000310670:p.Val82Ala					KIAA1967_ENST00000389279.3_Missense_Mutation_p.V82A|KIAA1967_ENST00000520861.1_5'UTR	p.V82A			Q8N163	K1967_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	5	494	+		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)	82					A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Missense_Mutation	SNP	ENST00000308511.4	37	c.245T>C	CCDS34863.1	.	.	.	.	.	.	.	.	.	.	T	10.39	1.336978	0.24253	.	.	ENSG00000158941	ENST00000308511;ENST00000389279;ENST00000521837;ENST00000523349	T;T	0.32515	1.45;1.45	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000004	T	0.16938	0.0407	N	0.10782	0.045	0.80722	D	1	B	0.30326	0.276	B	0.33254	0.16	T	0.21075	-1.0256	10	0.21014	T	0.42	-25.0029	9.2172	0.37355	0.0:0.0796:0.0:0.9204	.	82	Q8N163	K1967_HUMAN	A	82	ENSP00000310670:V82A;ENSP00000373930:V82A	ENSP00000310670:V82A	V	+	2	0	KIAA1967	22520370	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.530000	0.45641	2.371000	0.80710	0.533000	0.62120	GTG		0.602	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375865.1	NM_021174		30	34	0	0	0	1	0	30	34				
NOS2	4843	broad.mit.edu	37	17	26110004	26110004	+	Missense_Mutation	SNP	C	C	T			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr17:26110004C>T	ENST00000313735.6	-	6	829	c.596G>A	c.(595-597)cGc>cAc	p.R199H		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	199					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	CCCAATGCAGCGTGGGGCATT	0.577																																						ENST00000313735.6																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56						c.(595-597)cGc>cAc		nitric oxide synthase 2, inducible	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)						192.0	139.0	157.0					17																	26110004		2203	4300	6503	SO:0001583	missense	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26110004C>T	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.596G>A	17.37:g.26110004C>T	ENSP00000327251:p.Arg199His						p.R199H	NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN			6	829	-			199					A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	37	c.596G>A	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716386	0.89205	.	.	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	T	0.31247	1.5	5.62	5.62	0.85841	Nitric oxide synthase, oxygenase domain (4);	0.000000	0.64402	D	0.000001	T	0.68109	0.2965	H	0.94847	3.59	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	P;D	0.72982	0.879;0.979	T	0.77616	-0.2521	10	0.87932	D	0	.	18.6591	0.91465	0.0:1.0:0.0:0.0	.	199;199	F8WEM3;P35228	.;NOS2_HUMAN	H	199	ENSP00000327251:R199H	ENSP00000305638:R199H	R	-	2	0	NOS2	23134131	1.000000	0.71417	1.000000	0.80357	0.499000	0.33736	7.751000	0.85126	2.664000	0.90586	0.603000	0.83216	CGC		0.577	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		5	71	0	0	0	1	0	5	71				
TUBB8P7	197331	broad.mit.edu	37	16	90161578	90161578	+	RNA	SNP	G	G	A	rs13337896	byFrequency	TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr16:90161578G>A	ENST00000564451.1	+	0	931				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.R105H(3)									GCCAAGGGACGCTACACCGAA	0.587													.|||	668	0.133387	0.0386	0.1499	5008	,	,		18807	0.4087		0.0537	False		,,,				2504	0.0481					ENST00000564451.1																			3	Substitution - Missense(3)	p.R105H(3)	urinary_tract(1)|prostate(1)|kidney(1)																																																0							g.chr16:90161578G>A			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161578G>A						TUBB8P7_ENST00000567960.1_RNA								0	931	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.587	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	33	0	0	0	1	0	4	33				
PTGFR	5737	broad.mit.edu	37	1	78959037	78959037	+	Silent	SNP	A	A	C			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr1:78959037A>C	ENST00000370757.3	+	2	846	c.609A>C	c.(607-609)ctA>ctC	p.L203L	PTGFR_ENST00000370758.1_Silent_p.L203L|PTGFR_ENST00000370756.3_Silent_p.L203L	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	203					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	TTTATCTTCTACTTTTTTCTT	0.393																																						ENST00000370756.3																			0				breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33						c.(607-609)ctA>ctC		prostaglandin F receptor (FP)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)						71.0	76.0	74.0					1																	78959037		2203	4300	6503	SO:0001819	synonymous_variant	5737				parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	g.chr1:78959037A>C	AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"""GPCR / Class A : Prostanoid receptors"""	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.609A>C	1.37:g.78959037A>C						PTGFR_ENST00000370757.3_Silent_p.L203L|PTGFR_ENST00000370758.1_Silent_p.L203L	p.L203L	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN		Colorectal(170;0.248)	2	846	+			203					A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Silent	SNP	ENST00000370757.3	37	c.609A>C	CCDS686.1																																																																																				0.393	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026582.1	NM_000959		26	45	0	0	0	1	0	26	45				
C4orf19	55286	broad.mit.edu	37	4	37591965	37591965	+	Silent	SNP	C	C	T			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr4:37591965C>T	ENST00000284437.6	+	3	466	c.288C>T	c.(286-288)tgC>tgT	p.C96C	C4orf19_ENST00000381980.4_Silent_p.C96C|C4orf19_ENST00000508175.1_Intron|RP11-36B15.1_ENST00000503034.1_RNA	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	96										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						ACCATGCCTGCGGTGTCAACG	0.647																																						ENST00000284437.6																			0				large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						c.(286-288)tgC>tgT		chromosome 4 open reading frame 19							35.0	37.0	36.0					4																	37591965		2203	4300	6503	SO:0001819	synonymous_variant	55286							g.chr4:37591965C>T	BC037906	CCDS3442.1	4p14	2008-02-05			ENSG00000154274	ENSG00000154274			25618	protein-coding gene	gene with protein product						12477932	Standard	NM_001104629		Approved	FLJ11017	uc003gsw.4	Q8IY42	OTTHUMG00000128580	ENST00000284437.6:c.288C>T	4.37:g.37591965C>T						C4orf19_ENST00000508175.1_Intron|C4orf19_ENST00000381980.4_Silent_p.C96C	p.C96C	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN			3	466	+			96					Q9NV03	Silent	SNP	ENST00000284437.6	37	c.288C>T	CCDS3442.1																																																																																				0.647	C4orf19-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250432.1	NM_018302		34	46	0	0	0	1	0	34	46				
SPRR2E	6704	broad.mit.edu	37	1	153066083	153066083	+	Missense_Mutation	SNP	G	G	T			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr1:153066083G>T	ENST00000368751.1	-	2	219	c.145C>A	c.(145-147)Cag>Aag	p.Q49K	SPRR2B_ENST00000368752.4_Intron|SPRR2E_ENST00000368750.3_Missense_Mutation_p.Q49K			P22531	SPR2E_HUMAN	small proline-rich protein 2E	49					epidermis development (GO:0008544)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCTGGCACTGCTGAGGTGGG	0.592																																						ENST00000368751.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14						c.(145-147)Cag>Aag		small proline-rich protein 2E							208.0	203.0	204.0					1																	153066083		2203	4300	6503	SO:0001583	missense	6704				keratinization	cornified envelope|cytoplasm	protein binding|structural molecule activity	g.chr1:153066083G>T	AF333955	CCDS30866.1	1q21-q22	2008-02-05			ENSG00000203785	ENSG00000203785			11265	protein-coding gene	gene with protein product						8325635	Standard	NM_001024209		Approved		uc001fbh.3	P22531	OTTHUMG00000014397	ENST00000368751.1:c.145C>A	1.37:g.153066083G>T	ENSP00000357740:p.Gln49Lys					SPRR2B_ENST00000368752.4_Intron|SPRR2E_ENST00000368750.3_Missense_Mutation_p.Q49K	p.Q49K			P22531	SPR2E_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	219	-	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		49					Q5T9T4|Q96RM2	Missense_Mutation	SNP	ENST00000368751.1	37	c.145C>A	CCDS30866.1	.	.	.	.	.	.	.	.	.	.	G	4.501	0.092839	0.08632	.	.	ENSG00000203785	ENST00000368751;ENST00000368750	T;T	0.27557	1.66;1.66	2.88	-2.22	0.06952	.	.	.	.	.	T	0.03564	0.0102	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42616	-0.9441	8	0.14656	T	0.56	.	3.1244	0.06402	0.2464:0.0:0.4355:0.3181	.	49	P22531	SPR2E_HUMAN	K	49	ENSP00000357740:Q49K;ENSP00000357739:Q49K	ENSP00000357739:Q49K	Q	-	1	0	SPRR2E	151332707	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.108000	0.15396	-0.655000	0.05387	-0.491000	0.04670	CAG		0.592	SPRR2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040054.1			74	239	1	0	1.2582e-26	1	1.35688e-26	74	239				
WSB2	55884	broad.mit.edu	37	12	118474220	118474220	+	Silent	SNP	G	G	C			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr12:118474220G>C	ENST00000315436.3	-	6	897	c.756C>G	c.(754-756)gcC>gcG	p.A252A	WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000441406.2_Silent_p.A269A|WSB2_ENST00000544233.1_Silent_p.A42A|WSB2_ENST00000535496.1_Silent_p.A254A|WSB2_ENST00000542304.1_Silent_p.A27A	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	252					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)					TGACAAGCAGGGCAGAGTCGG	0.517																																						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.(754-756)gcC>gcG		WD repeat and SOCS box containing 2							164.0	148.0	154.0					12																	118474220		2203	4300	6503	SO:0001819	synonymous_variant	55884				intracellular signal transduction			g.chr12:118474220G>C	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.756C>G	12.37:g.118474220G>C						WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000544233.1_Silent_p.A42A|WSB2_ENST00000535496.1_Silent_p.A254A|WSB2_ENST00000542304.1_Silent_p.A27A|WSB2_ENST00000441406.2_Silent_p.A269A	p.A252A	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN			6	897	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		252					B4DIE6|B4DPV6|Q9NRX9	Silent	SNP	ENST00000315436.3	37	c.756C>G	CCDS9186.1																																																																																				0.517	WSB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401515.1	NM_018639		28	123	0	0	0	1	0	28	123				
ATG7	10533	broad.mit.edu	37	3	11402103	11402103	+	Missense_Mutation	SNP	C	C	G			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr3:11402103C>G	ENST00000354449.3	+	14	1553	c.1528C>G	c.(1528-1530)Cat>Gat	p.H510D	ATG7_ENST00000446450.2_Missense_Mutation_p.H471D|ATG7_ENST00000354956.5_Missense_Mutation_p.H510D	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	510					adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						TGTCATGAGACATGGTCTGAA	0.458																																						ENST00000354449.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						c.(1528-1530)Cat>Gat		autophagy related 7							170.0	153.0	159.0					3																	11402103		2203	4300	6503	SO:0001583	missense	10533				autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity	g.chr3:11402103C>G	AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"""Ubiquitin-like modifier activating enzymes"""	16935	protein-coding gene	gene with protein product	"""ubiquitin-activating enzyme E1-like protein"""	608760	"""APG7 autophagy 7-like (S. cerevisiae)"", ""ATG7 autophagy related 7 homolog (S. cerevisiae)"""	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	ENST00000354449.3:c.1528C>G	3.37:g.11402103C>G	ENSP00000346437:p.His510Asp					ATG7_ENST00000446450.2_Missense_Mutation_p.H471D|ATG7_ENST00000354956.5_Missense_Mutation_p.H510D	p.H510D	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN			14	1553	+			510					B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Missense_Mutation	SNP	ENST00000354449.3	37	c.1528C>G	CCDS2605.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683116	0.88542	.	.	ENSG00000197548	ENST00000446450;ENST00000354956;ENST00000354449	T;T;T	0.13307	2.6;2.6;2.6	5.74	5.74	0.90152	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.53449	0.1797	H	0.96301	3.8	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;1.0	T	0.68277	-0.5451	10	0.87932	D	0	-9.2916	18.0951	0.89487	0.0:1.0:0.0:0.0	.	471;510;510	E9PB95;O95352-2;O95352	.;.;ATG7_HUMAN	D	471;510;510	ENSP00000412580:H471D;ENSP00000347042:H510D;ENSP00000346437:H510D	ENSP00000346437:H510D	H	+	1	0	ATG7	11377103	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.367000	0.79558	2.709000	0.92574	0.655000	0.94253	CAT		0.458	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251951.3	NM_006395		87	99	0	0	0	1	0	87	99				
RASAL1	8437	broad.mit.edu	37	12	113539707	113539707	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr12:113539707G>A	ENST00000261729.5	-	20	2524	c.2209C>T	c.(2209-2211)Cgg>Tgg	p.R737W	RASAL1_ENST00000446861.3_Missense_Mutation_p.R709W|RASAL1_ENST00000546530.1_Missense_Mutation_p.R739W|RASAL1_ENST00000548055.1_Missense_Mutation_p.R738W|RASAL1_ENST00000418411.2_5'Flank			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	737					intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						AGCTGGTCCCGCCCCAGGAGC	0.627																																						ENST00000546530.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						c.(2215-2217)Cgg>Tgg		RAS protein activator like 1 (GAP1 like)							50.0	44.0	46.0					12																	113539707		2203	4300	6503	SO:0001583	missense	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113539707G>A	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.2209C>T	12.37:g.113539707G>A	ENSP00000261729:p.Arg737Trp					RASAL1_ENST00000548055.1_Missense_Mutation_p.R738W|RASAL1_ENST00000261729.5_Missense_Mutation_p.R737W|RASAL1_ENST00000446861.3_Missense_Mutation_p.R709W	p.R739W	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN			20	2500	-			737					B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	ENST00000261729.5	37	c.2215C>T	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	g	19.80	3.895478	0.72639	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.70399	-0.47;-0.39;-0.48;-0.47	5.16	4.19	0.49359	.	0.196943	0.41712	D	0.000840	T	0.76521	0.3999	M	0.70275	2.135	0.30704	N	0.750018	D;D;D;D	0.71674	0.996;0.998;0.992;0.998	P;P;P;P	0.55824	0.721;0.785;0.614;0.702	T	0.76296	-0.3011	10	0.46703	T	0.11	.	10.0546	0.42237	0.0:0.0:0.6026:0.3974	.	738;739;737;709	F8VRH9;F8VQX1;O95294;O95294-2	.;.;RASL1_HUMAN;.	W	739;737;709;738	ENSP00000450244:R739W;ENSP00000261729:R737W;ENSP00000395920:R709W;ENSP00000448510:R738W	ENSP00000261729:R737W	R	-	1	2	RASAL1	112024090	0.875000	0.30112	1.000000	0.80357	0.989000	0.77384	1.172000	0.31908	2.393000	0.81446	0.556000	0.70494	CGG		0.627	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		8	69	0	0	0	1	0	8	69				
TMEM40	55287	broad.mit.edu	37	3	12783981	12783981	+	Silent	SNP	A	A	G			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr3:12783981A>G	ENST00000314124.7	-	5	683	c.327T>C	c.(325-327)gtT>gtC	p.V109V	TMEM40_ENST00000435575.1_Silent_p.V33V|TMEM40_ENST00000431022.2_Silent_p.V125V|TMEM40_ENST00000264728.8_Silent_p.V109V|TMEM40_ENST00000476331.1_5'Flank|TMEM40_ENST00000435218.2_Silent_p.V79V	NM_001284406.1|NM_018306.2	NP_001271335.1|NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	109						integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						CATCCTTCAAAACGTCAGGCT	0.512																																						ENST00000314124.7																			0				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						c.(325-327)gtT>gtC		transmembrane protein 40							128.0	124.0	125.0					3																	12783981		2203	4300	6503	SO:0001819	synonymous_variant	55287					integral to membrane		g.chr3:12783981A>G	BC020658	CCDS2613.1, CCDS68347.1, CCDS68348.1	3p25.2	2005-01-10			ENSG00000088726	ENSG00000088726			25620	protein-coding gene	gene with protein product						12477932	Standard	NM_018306		Approved	FLJ11036	uc003bxg.1	Q8WWA1	OTTHUMG00000129801	ENST00000314124.7:c.327T>C	3.37:g.12783981A>G						TMEM40_ENST00000435575.1_Silent_p.V33V|TMEM40_ENST00000435218.2_Silent_p.V79V|TMEM40_ENST00000264728.8_Silent_p.V109V|TMEM40_ENST00000431022.2_Silent_p.V125V	p.V109V	NM_018306.2	NP_060776.2	Q8WWA1	TMM40_HUMAN			5	683	-			109					C9JID5|Q8NAL4|Q9NUZ4	Silent	SNP	ENST00000314124.7	37	c.327T>C	CCDS2613.1																																																																																				0.512	TMEM40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252029.2	NM_018306		53	80	0	0	0	1	0	53	80				
OTX1	5013	broad.mit.edu	37	2	63283375	63283375	+	Missense_Mutation	SNP	C	C	G			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr2:63283375C>G	ENST00000282549.2	+	5	1265	c.989C>G	c.(988-990)gCc>gGc	p.A330G	OTX1_ENST00000366671.3_Missense_Mutation_p.A330G	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	330					anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					GCTTCCTCCGCCTGGAAACTC	0.577																																						ENST00000366671.3																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(988-990)gCc>gGc		orthodenticle homeobox 1							63.0	59.0	60.0					2																	63283375		2203	4300	6503	SO:0001583	missense	5013					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:63283375C>G		CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"""Homeoboxes / PRD class"""	8521	protein-coding gene	gene with protein product		600036	"""orthodenticle (Drosophila) homolog 1"", ""orthodenticle homolog 1 (Drosophila)"""			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.989C>G	2.37:g.63283375C>G	ENSP00000282549:p.Ala330Gly					OTX1_ENST00000282549.2_Missense_Mutation_p.A330G	p.A330G	NM_001199770.1	NP_001186699.1	P32242	OTX1_HUMAN			5	1265	+	Lung NSC(7;0.121)|all_lung(7;0.211)		330					A6NHA2|B3KTJ4|Q53TG6	Missense_Mutation	SNP	ENST00000282549.2	37	c.989C>G	CCDS1873.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.726346	0.69074	.	.	ENSG00000115507	ENST00000366671;ENST00000282549	D;D	0.90788	-2.73;-2.73	3.76	3.76	0.43208	.	0.213429	0.39985	N	0.001217	D	0.85617	0.5738	L	0.32530	0.975	0.46131	D	0.99888	B	0.25667	0.131	B	0.24541	0.054	D	0.85088	0.0950	10	0.66056	D	0.02	.	14.8544	0.70326	0.0:1.0:0.0:0.0	.	330	P32242	OTX1_HUMAN	G	330	ENSP00000355631:A330G;ENSP00000282549:A330G	ENSP00000282549:A330G	A	+	2	0	OTX1	63136879	1.000000	0.71417	0.982000	0.44146	0.859000	0.49053	6.927000	0.75840	2.069000	0.61940	0.561000	0.74099	GCC		0.577	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1			27	55	0	0	0	1	0	27	55				
SLC2A8	29988	broad.mit.edu	37	9	130167187	130167187	+	Missense_Mutation	SNP	C	C	T			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr9:130167187C>T	ENST00000373371.3	+	8	1156	c.1067C>T	c.(1066-1068)tCg>tTg	p.S356L	SLC2A8_ENST00000485806.1_3'UTR|SLC2A8_ENST00000373360.3_Missense_Mutation_p.S356L|SLC2A8_ENST00000373352.1_Missense_Mutation_p.S93L	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 8	356					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|male meiosis I (GO:0007141)|response to hypoxia (GO:0001666)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	glucose binding (GO:0005536)|glucose transmembrane transporter activity (GO:0005355)	p.S356L(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						GTGGCCATCTCGGCGCCTGTC	0.667																																						ENST00000373371.3																			1	Substitution - Missense(1)	p.S356L(1)	cervix(1)	cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						c.(1066-1068)tCg>tTg		solute carrier family 2 (facilitated glucose transporter), member 8							69.0	64.0	66.0					9																	130167187		2203	4298	6501	SO:0001583	missense	29988					cytoplasmic vesicle membrane|integral to plasma membrane	D-glucose transmembrane transporter activity	g.chr9:130167187C>T	AJ245937	CCDS6870.1, CCDS65138.1, CCDS75903.1	9q33.3	2013-05-22	2008-09-02		ENSG00000136856	ENSG00000136856		"""Solute carriers"""	13812	protein-coding gene	gene with protein product		605245	"""solute carrier family 2 (facilitated glucose transporter) member 8"""			10671487, 10821868	Standard	NM_014580		Approved	GLUTX1, GLUT8	uc004bqu.4	Q9NY64	OTTHUMG00000020702	ENST00000373371.3:c.1067C>T	9.37:g.130167187C>T	ENSP00000362469:p.Ser356Leu					SLC2A8_ENST00000485806.1_3'UTR|SLC2A8_ENST00000373352.1_Missense_Mutation_p.S93L|SLC2A8_ENST00000373360.3_Missense_Mutation_p.S356L	p.S356L	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN			8	1156	+			356					Q8WUZ9|Q9NSC4	Missense_Mutation	SNP	ENST00000373371.3	37	c.1067C>T	CCDS6870.1	.	.	.	.	.	.	.	.	.	.	C	3.997	-0.003275	0.07773	.	.	ENSG00000136856	ENST00000373371;ENST00000451404;ENST00000373352;ENST00000373360;ENST00000439597;ENST00000423934;ENST00000373350;ENST00000430147	D;T;D;T;D;T;T	0.88741	-1.63;-1.48;-2.39;0.54;-2.42;-1.36;-1.29	5.43	0.452	0.16634	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.704240	0.03143	N	0.166919	T	0.68403	0.2997	N	0.01482	-0.84	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.66952	-0.5793	10	0.05525	T	0.97	.	4.7436	0.13026	0.1327:0.3124:0.0:0.5549	.	356;356	Q5VVV9;Q9NY64	.;GTR8_HUMAN	L	356;193;93;356;195;221;221;195	ENSP00000362469:S356L;ENSP00000392434:S193L;ENSP00000362450:S93L;ENSP00000362458:S356L;ENSP00000404893:S195L;ENSP00000389070:S221L;ENSP00000391213:S195L	ENSP00000362448:S221L	S	+	2	0	SLC2A8	129207008	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.087000	0.14958	-0.093000	0.12396	-0.302000	0.09304	TCG		0.667	SLC2A8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054177.1	NM_014580		43	67	0	0	0	1	0	43	67				
PRAMEF11	440560	broad.mit.edu	37	1	12887606	12887606	+	Missense_Mutation	SNP	C	C	G	rs58074988	byFrequency	TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr1:12887606C>G	ENST00000535591.1	-	3	446	c.251G>C	c.(250-252)tGc>tCc	p.C84S		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	84					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.C84S(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ATTGAGGAAGCACCCATGGGC	0.483																																						ENST00000535591.1																			1	Substitution - Missense(1)	p.C84S(1)	endometrium(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(250-252)tGc>tCc		PRAME family member 11																																				SO:0001583	missense	440560							g.chr1:12887606C>G	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.251G>C	1.37:g.12887606C>G	ENSP00000439551:p.Cys84Ser						p.C84S	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			3	446	-			84						Missense_Mutation	SNP	ENST00000535591.1	37	c.251G>C	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	8.676	0.903882	0.17760	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.18016	2.24;2.24	1.48	-0.635	0.11512	.	1.371720	0.04624	N	0.402516	T	0.15825	0.0381	L	0.54908	1.71	0.09310	N	1	P	0.44816	0.844	B	0.41764	0.366	T	0.23904	-1.0175	10	0.16896	T	0.51	.	3.692	0.08350	0.2835:0.4381:0.2784:0.0	rs58074988	84	O60813	PRA11_HUMAN	S	84;125;84	ENSP00000439551:C84S;ENSP00000391839:C84S	ENSP00000328783:C125S	C	-	2	0	PRAMEF11	12810193	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.358000	0.07641	-0.176000	0.10707	-1.934000	0.00508	TGC		0.483	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		7	317	0	0	0	1	0	7	317				
FBN3	84467	broad.mit.edu	37	19	8188379	8188379	+	Silent	SNP	G	G	A			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr19:8188379G>A	ENST00000600128.1	-	24	3465	c.3051C>T	c.(3049-3051)ttC>ttT	p.F1017F	FBN3_ENST00000270509.2_Silent_p.F1017F|FBN3_ENST00000601739.1_Silent_p.F1017F			Q75N90	FBN3_HUMAN	fibrillin 3	1017	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CATCCAGGGCGAAGCCCCCCG	0.597																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(3049-3051)ttC>ttT		fibrillin 3							55.0	55.0	55.0					19																	8188379		2203	4300	6503	SO:0001819	synonymous_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8188379G>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.3051C>T	19.37:g.8188379G>A						FBN3_ENST00000601739.1_Silent_p.F1017F|FBN3_ENST00000270509.2_Silent_p.F1017F	p.F1017F			Q75N90	FBN3_HUMAN			24	3465	-			1017			EGF-like 12; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	c.3051C>T	CCDS12196.1																																																																																				0.597	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		7	25	0	0	0	1	0	7	25				
P2RY6	5031	broad.mit.edu	37	11	73007592	73007592	+	Missense_Mutation	SNP	C	C	G			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr11:73007592C>G	ENST00000393590.2	+	2	328	c.29C>G	c.(28-30)gCt>gGt	p.A10G	P2RY6_ENST00000393591.1_Missense_Mutation_p.A10G|P2RY6_ENST00000542092.1_Missense_Mutation_p.A10G|P2RY6_ENST00000349767.2_Missense_Mutation_p.A10G|P2RY6_ENST00000540124.1_Missense_Mutation_p.A10G|P2RY6_ENST00000538328.1_Missense_Mutation_p.A10G|P2RY6_ENST00000393592.2_Missense_Mutation_p.A10G|P2RY6_ENST00000540342.1_Missense_Mutation_p.A10G	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 6	10					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						ACAGGCCAGGCTCTGGGCTTG	0.602																																						ENST00000393590.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						c.(28-30)gCt>gGt		pyrimidinergic receptor P2Y, G-protein coupled, 6							88.0	91.0	90.0					11																	73007592		2200	4293	6493	SO:0001583	missense	0				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:73007592C>G		CCDS8220.1	11q13.5	2012-08-08				ENSG00000171631		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8543	protein-coding gene	gene with protein product		602451				8670200	Standard	NM_176797		Approved	P2Y6	uc001otr.4	Q15077		ENST00000393590.2:c.29C>G	11.37:g.73007592C>G	ENSP00000377215:p.Ala10Gly					P2RY6_ENST00000538328.1_Missense_Mutation_p.A10G|P2RY6_ENST00000393591.1_Missense_Mutation_p.A10G|P2RY6_ENST00000540342.1_Missense_Mutation_p.A10G|P2RY6_ENST00000542092.1_Missense_Mutation_p.A10G|P2RY6_ENST00000393592.2_Missense_Mutation_p.A10G|P2RY6_ENST00000540124.1_Missense_Mutation_p.A10G|P2RY6_ENST00000349767.2_Missense_Mutation_p.A10G	p.A10G	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN			2	328	+			10					Q15754	Missense_Mutation	SNP	ENST00000393590.2	37	c.29C>G	CCDS8220.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.099888	0.37048	.	.	ENSG00000171631	ENST00000540342;ENST00000542092;ENST00000349767;ENST00000393592;ENST00000544437;ENST00000393591;ENST00000540124;ENST00000393590;ENST00000535931;ENST00000538328	T;T;T;T;T;T;T;T;T;T	0.71461	-0.29;-0.29;-0.29;-0.29;1.25;-0.29;-0.29;-0.29;-0.57;-0.29	3.95	0.521	0.17046	.	1.246590	0.05778	N	0.608101	T	0.42291	0.1196	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.09377	0.004	T	0.33369	-0.9871	10	0.02654	T	1	.	3.1399	0.06452	0.3926:0.3789:0.0:0.2285	.	10	Q15077	P2RY6_HUMAN	G	10	ENSP00000443427:A10G;ENSP00000445652:A10G;ENSP00000309771:A10G;ENSP00000377217:A10G;ENSP00000441079:A10G;ENSP00000377216:A10G;ENSP00000442551:A10G;ENSP00000377215:A10G;ENSP00000440770:A10G;ENSP00000442990:A10G	ENSP00000309771:A10G	A	+	2	0	P2RY6	72685240	0.000000	0.05858	0.000000	0.03702	0.964000	0.63967	-0.891000	0.04135	-0.009000	0.14296	0.491000	0.48974	GCT		0.602	P2RY6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397349.1			5	207	0	0	0	1	0	5	207				
AGBL1	123624	broad.mit.edu	37	15	87066160	87066160	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr15:87066160G>A	ENST00000441037.2	+	18	2632	c.2537G>A	c.(2536-2538)cGa>cAa	p.R846Q	AGBL1_ENST00000389298.3_Missense_Mutation_p.R577Q|AGBL1_ENST00000421325.2_Missense_Mutation_p.R846Q	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	846					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						AGCATTGGCCGAAGTCCCGTG	0.522																																						ENST00000441037.2																			0				NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						c.(2536-2538)cGa>cAa		ATP/GTP binding protein-like 1							183.0	178.0	179.0					15																	87066160		2051	4208	6259	SO:0001583	missense	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:87066160G>A	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.2537G>A	15.37:g.87066160G>A	ENSP00000413001:p.Arg846Gln					AGBL1_ENST00000421325.2_Missense_Mutation_p.R846Q|AGBL1_ENST00000389298.3_Missense_Mutation_p.R577Q	p.R846Q	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN			18	2632	+			846					A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	c.2537G>A	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.497497	0.64186	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.11063	2.81;2.81	5.93	3.05	0.35203	Peptidase M14, carboxypeptidase A (1);	0.110670	0.33382	U	0.004974	T	0.18173	0.0436	L	0.60845	1.875	0.21652	N	0.999604	D	0.64830	0.994	P	0.55785	0.784	T	0.07252	-1.0782	10	0.72032	D	0.01	-6.4693	5.4182	0.16386	0.2144:0.0:0.6437:0.1419	.	846	Q96MI9	CBPC4_HUMAN	Q	875;846;577	ENSP00000397173:R846Q;ENSP00000373949:R577Q	ENSP00000373949:R577Q	R	+	2	0	AGBL1	84867164	0.843000	0.29541	0.406000	0.26421	0.801000	0.45260	2.828000	0.48120	0.398000	0.25338	-0.182000	0.12963	CGA		0.522	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		4	195	0	0	0	1	0	4	195				
TSEN54	283989	broad.mit.edu	37	17	73518111	73518111	+	Missense_Mutation	SNP	G	G	T	rs201125812	byFrequency	TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr17:73518111G>T	ENST00000333213.6	+	8	985	c.949G>T	c.(949-951)Gcc>Tcc	p.A317S		NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	317					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCTTCTGCGCGCCCCAGCCCC	0.652													G|||	2	0.000399361	0.0	0.0	5008	,	,		15385	0.002		0.0	False		,,,				2504	0.0					ENST00000333213.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13						c.(949-951)Gcc>Tcc		TSEN54 tRNA splicing endonuclease subunit							12.0	12.0	12.0					17																	73518111		2182	4280	6462	SO:0001583	missense	283989				mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	nucleolus		g.chr17:73518111G>T	AK097583	CCDS11724.1	17q25.1	2013-08-06	2013-08-06		ENSG00000182173	ENSG00000182173		"""tRNA splicing endonuclease subunits"""	27561	protein-coding gene	gene with protein product		608755	"""tRNA splicing endonuclease 54 homolog (SEN54, S. cerevisiae)"", ""tRNA splicing endonuclease 54 homolog (S. cerevisiae)"""			15109492	Standard	NM_207346		Approved	SEN54, SEN54L	uc002jof.1	Q7Z6J9		ENST00000333213.6:c.949G>T	17.37:g.73518111G>T	ENSP00000327487:p.Ala317Ser						p.A317S	NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		8	985	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		317					Q86WV3|Q86XE4|Q8N9H2	Missense_Mutation	SNP	ENST00000333213.6	37	c.949G>T	CCDS11724.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	9.996	1.232283	0.22626	.	.	ENSG00000182173	ENST00000333213	T	0.57273	0.41	5.24	5.24	0.73138	.	0.170208	0.52532	D	0.000075	T	0.43344	0.1243	L	0.49126	1.545	0.36177	D	0.849165	B	0.23735	0.09	B	0.18561	0.022	T	0.47341	-0.9125	10	0.23891	T	0.37	-8.068	9.6635	0.39969	0.0749:0.0:0.7828:0.1423	.	317	Q7Z6J9	SEN54_HUMAN	S	317	ENSP00000327487:A317S	ENSP00000327487:A317S	A	+	1	0	TSEN54	71029706	0.009000	0.17119	0.794000	0.32065	0.519000	0.34347	0.640000	0.24705	2.427000	0.82271	0.561000	0.74099	GCC		0.652	TSEN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447618.1	NM_207346		4	6	1	0	0.00024832	1	0.00024832	4	6				
POU3F1	5453	broad.mit.edu	37	1	38512169	38512171	+	In_Frame_Del	DEL	CGC	CGC	-			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr1:38512169_38512171delCGC	ENST00000373012.2	-	1	279_281	c.245_247delGCG	c.(244-249)ggcgat>gat	p.G82del	RP5-884C9.2_ENST00000432922.1_lincRNA	NM_002699.3	NP_002690.3	Q03052	PO3F1_HUMAN	POU class 3 homeobox 1	82	Gly-rich.				axon ensheathment (GO:0008366)|forebrain development (GO:0030900)|keratinocyte differentiation (GO:0030216)|myelination in peripheral nervous system (GO:0022011)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|lung(1)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCGGCCCAATCGCCGCCGCCGCC	0.773																																						ENST00000373012.2																			0				cervix(1)|lung(1)|upper_aerodigestive_tract(1)	3						c.(244-249)gat>g		POU class 3 homeobox 1																																				SO:0001651	inframe_deletion	5453				positive regulation of transcription, DNA-dependent		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:38512169_38512171delCGC	L26494	CCDS30679.1	1p34.3	2011-06-20	2007-07-13		ENSG00000185668	ENSG00000185668		"""Homeoboxes / POU class"""	9214	protein-coding gene	gene with protein product		602479	"""POU domain class 3, transcription factor 1"""	OTF6		8451175	Standard	NM_002699		Approved	OCT6, SCIP	uc001ccp.1	Q03052	OTTHUMG00000000485	ENST00000373012.2:c.245_247delGCG	1.37:g.38512178_38512180delCGC	ENSP00000362103:p.Gly82del						p.GD82del	NM_002699.3	NP_002690.3	Q03052	PO3F1_HUMAN			1	279_281	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	82			Gly-rich.		Q5TAG2	In_Frame_Del	DEL	ENST00000373012.2	37	c.245_247delGCG	CCDS30679.1																																																																																				0.773	POU3F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001213.1	NM_002699		2	4						2	4	---	---	---	---
ZBTB41	360023	broad.mit.edu	37	1	197128614	197128637	+	In_Frame_Del	DEL	TATTTGCAGGTTGAGGAGTAAGAG	TATTTGCAGGTTGAGGAGTAAGAG	-	rs35114924		TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr1:197128614_197128637delTATTTGCAGGTTGAGGAGTAAGAG	ENST00000367405.4	-	10	2650_2673	c.2582_2605delCTCTTACTCCTCAACCTGCAAATA	c.(2581-2607)actcttactcctcaacctgcaaatata>ata	p.TLTPQPAN861del	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	861					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						GGGTGAACTATATTTGCAGGTTGAGGAGTAAGAGTATATTTTTC	0.42																																						ENST00000367405.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						c.(2581-2607)ata>a		zinc finger and BTB domain containing 41																																				SO:0001651	inframe_deletion	360023				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:197128614_197128637delTATTTGCAGGTTGAGGAGTAAGAG		CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.2582_2605delCTCTTACTCCTCAACCTGCAAATA	1.37:g.197128614_197128637delTATTTGCAGGTTGAGGAGTAAGAG	ENSP00000356375:p.Thr861_Asn868del					ZBTB41_ENST00000467322.1_5'UTR	p.TLTPQPANI861del	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN			10	2650_2673	-			861					A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	In_Frame_Del	DEL	ENST00000367405.4	37	c.2582_2605delCTCTTACTCCTCAACCTGCAAATA	CCDS30960.1																																																																																				0.420	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2	NM_194314		19	187						19	187	---	---	---	---
LINC00969	440993	broad.mit.edu	37	3	195400918	195400919	+	lincRNA	INS	-	-	T	rs55992531|rs397933710		TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr3:195400918_195400919insT	ENST00000445430.1	+	0	1454									long intergenic non-protein coding RNA 969																		AGTCttttttctttttttttga	0.525																																						ENST00000445430.1																			0																																																			0							g.chr3:195400918_195400919insT	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400927_195400927dupT														0	1454	+									RNA	INS	ENST00000445430.1	37																																																																																						0.525	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			4	4						4	4	---	---	---	---
HSPA4	3308	broad.mit.edu	37	5	132425287	132425291	+	Frame_Shift_Del	DEL	TCCTT	TCCTT	-			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr5:132425287_132425291delTCCTT	ENST00000304858.2	+	11	1567_1571	c.1278_1282delTCCTT	c.(1276-1284)gctcctttcfs	p.PF427fs		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	427					chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATCATGCTGCTCCTTTCTCTAAAGT	0.385																																					Colon(114;1299 1588 6063 12302 48757)	ENST00000304858.2																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32						c.(1276-1284)gctcfs		heat shock 70kDa protein 4																																				SO:0001589	frameshift_variant	3308				cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding	g.chr5:132425287_132425291delTCCTT	AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"""Heat shock proteins / HSP70"""	5237	protein-coding gene	gene with protein product	"""hsp70 RY"""	601113	"""heat shock 70kD protein 4"""			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.1278_1282delTCCTT	5.37:g.132425287_132425291delTCCTT	ENSP00000302961:p.Pro427fs						p.APF426fs	NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		11	1567_1571	+			426					O95756|Q2TAL4|Q9BUK9	Frame_Shift_Del	DEL	ENST00000304858.2	37	c.1278_1282delTCCTT	CCDS4166.1																																																																																				0.385	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251011.1	NM_002154, NM_198431		12	34						12	34	---	---	---	---
