#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
C16orf70	80262	broad.mit.edu	37	16	67173971	67173971	+	Missense_Mutation	SNP	T	T	G			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr16:67173971T>G	ENST00000219139.3	+	9	934	c.746T>G	c.(745-747)cTt>cGt	p.L249R	C16orf70_ENST00000569600.1_Missense_Mutation_p.L249R	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	249										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		CAAGATGTTCTTAGCATGCTT	0.408																																						ENST00000219139.3																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17						c.(745-747)cTt>cGt		chromosome 16 open reading frame 70							126.0	114.0	118.0					16																	67173971		2199	4300	6499	SO:0001583	missense	80262							g.chr16:67173971T>G	AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 6"""	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510	ENST00000219139.3:c.746T>G	16.37:g.67173971T>G	ENSP00000219139:p.Leu249Arg					C16orf70_ENST00000569600.1_Missense_Mutation_p.L249R	p.L249R	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)	9	934	+		Ovarian(137;0.192)	249					Q9HA86	Missense_Mutation	SNP	ENST00000219139.3	37	c.746T>G	CCDS10828.1	.	.	.	.	.	.	.	.	.	.	T	14.19	2.461493	0.43736	.	.	ENSG00000125149	ENST00000219139	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.77205	0.4096	M	0.73217	2.22	0.58432	D	0.999999	D	0.67145	0.996	D	0.66602	0.945	T	0.79145	-0.1924	9	0.62326	D	0.03	-11.8018	15.3964	0.74798	0.0:0.0:0.0:1.0	.	249	Q9BSU1	CP070_HUMAN	R	249	.	ENSP00000219139:L249R	L	+	2	0	C16orf70	65731472	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.117000	0.71577	2.313000	0.78055	0.455000	0.32223	CTT		0.408	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187		4	81	0	0	0	0.150653	0	4	81				
DOCK5	80005	broad.mit.edu	37	8	25226092	25226092	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr8:25226092C>T	ENST00000276440.7	+	33	3333	c.3289C>T	c.(3289-3291)Cac>Tac	p.H1097Y		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1097					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TTCAGGTCCCCACAAAATCAA	0.393																																					Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(3289-3291)Cac>Tac		dedicator of cytokinesis 5							60.0	61.0	61.0					8																	25226092		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25226092C>T		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.3289C>T	8.37:g.25226092C>T	ENSP00000276440:p.His1097Tyr						p.H1097Y	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	33	3333	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	1097					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.3289C>T	CCDS6047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.90|15.90	2.969615|2.969615	0.53614|0.53614	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000276440|ENST00000444569	T|T	0.30714|0.41400	1.52|1.0	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.047910|.	0.85682|.	D|.	0.000000|.	T|T	0.55353|0.55353	0.1915|0.1915	L|L	0.50333|0.50333	1.59|1.59	0.51482|0.51482	D|D	0.999923|0.999923	B;B;B|.	0.16802|.	0.019;0.008;0.019|.	B;B;B|.	0.19946|.	0.024;0.027;0.024|.	T|T	0.43327|0.43327	-0.9398|-0.9398	10|7	0.38643|0.37606	T|T	0.18|0.19	.|.	20.0567|20.0567	0.97653|0.97653	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1087;872;1097|.	D3DSS6;Q68DL4;Q9H7D0|.	.;.;DOCK5_HUMAN|.	Y|L	1097|868	ENSP00000276440:H1097Y|ENSP00000414125:P868L	ENSP00000276440:H1097Y|ENSP00000414125:P868L	H|P	+|+	1|2	0|0	DOCK5|DOCK5	25282009|25282009	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.832000|0.832000	0.47134|0.47134	4.896000|4.896000	0.63222|0.63222	2.741000|2.741000	0.93983|0.93983	0.655000|0.655000	0.94253|0.94253	CAC|CCA		0.393	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		14	41	0	0	0	0.457914	0	14	41				
LGMN	5641	broad.mit.edu	37	14	93172867	93172867	+	Silent	SNP	C	C	A			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr14:93172867C>A	ENST00000393218.2	-	13	1489	c.1152G>T	c.(1150-1152)ctG>ctT	p.L384L	LGMN_ENST00000555699.1_Intron|LGMN_ENST00000334869.4_Silent_p.L384L|LGMN_ENST00000557434.1_Intron	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	384					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|innate immune response (GO:0045087)|negative regulation of ERBB signaling pathway (GO:1901185)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of neuron apoptotic process (GO:0043524)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|receptor catabolic process (GO:0032801)|renal system process (GO:0003014)|response to acidic pH (GO:0010447)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|toll-like receptor signaling pathway (GO:0002224)|vitamin D metabolic process (GO:0042359)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		TCCGGAAGTGCAGCAGGGCCT	0.627																																						ENST00000393218.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18						c.(1150-1152)ctG>ctT		legumain							51.0	52.0	52.0					14																	93172867		2203	4300	6503	SO:0001819	synonymous_variant	5641				hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity	g.chr14:93172867C>A	D55696	CCDS9904.1	14q32.12	2011-04-08		2002-01-18	ENSG00000100600	ENSG00000100600			9472	protein-coding gene	gene with protein product		602620	"""protease, cysteine, 1 (legumain)"""	PRSC1		8893817, 9065484	Standard	NM_001008530		Approved	LGMN1	uc001yaw.3	Q99538		ENST00000393218.2:c.1152G>T	14.37:g.93172867C>A						LGMN_ENST00000334869.4_Silent_p.L384L|LGMN_ENST00000555699.1_Intron|LGMN_ENST00000557434.1_Intron	p.L384L	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN		COAD - Colon adenocarcinoma(157;0.224)	13	1489	-		all_cancers(154;0.0706)	384					O00123|Q86TV2|Q86TV3|Q9BTY1	Silent	SNP	ENST00000393218.2	37	c.1152G>T	CCDS9904.1																																																																																				0.627	LGMN-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412288.1	NM_005606		3	55	1	0	2.56e-06	0.150653	2.74286e-06	3	55				
NBPF10	100132406	broad.mit.edu	37	1	145293269	145293269	+	Splice_Site	SNP	G	G	A	rs61350760		TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr1:145293269G>A	ENST00000468030.1	+	5	1125		c.e5+1		NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000342960.5_5'Flank|NBPF10_ENST00000369338.1_Splice_Site																							TTTCACAACAGTAAGTTAAGA	0.423																																						ENST00000369338.1																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.e1+1		neuroblastoma breakpoint family, member 10																																				SO:0001630	splice_region_variant	100132406							g.chr1:145293269G>A																												ENST00000468030.1:c.714+1G>A	1.37:g.145293269G>A						NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_Splice_Site				A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	1	155	+	all_hematologic(923;0.032)								Splice_Site	SNP	ENST00000468030.1	37																																																																																						0.423	RP11-458D21.5-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000038553.9		Intron	4	69	0	0	0	0.184627	0	4	69				
TIPARP	25976	broad.mit.edu	37	3	156421217	156421217	+	Missense_Mutation	SNP	C	C	T	rs1137515		TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr3:156421217C>T	ENST00000461166.1	+	5	1840	c.1252C>T	c.(1252-1254)Ctt>Ttt	p.L418F	TIPARP_ENST00000486483.1_Missense_Mutation_p.L418F|TIPARP_ENST00000295924.7_Missense_Mutation_p.L418F|TIPARP_ENST00000542783.1_Missense_Mutation_p.L418F	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	418					androgen metabolic process (GO:0008209)|cellular response to organic cyclic compound (GO:0071407)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|multicellular organismal metabolic process (GO:0044236)|negative regulation of gene expression (GO:0010629)|nitrogen compound metabolic process (GO:0006807)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of protein catabolic process (GO:0045732)|post-embryonic development (GO:0009791)|protein ADP-ribosylation (GO:0006471)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculogenesis (GO:0001570)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TTTTAGGACACTTGGTGGGGT	0.383																																					Ovarian(171;276 1987 3319 6837 11197)	ENST00000461166.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23						c.(1252-1254)Ctt>Ttt		TCDD-inducible poly(ADP-ribose) polymerase							65.0	62.0	63.0					3																	156421217		2203	4300	6503	SO:0001583	missense	25976						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr3:156421217C>T	BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659		"""Poly (ADP-ribose) polymerases"""	23696	protein-coding gene	gene with protein product		612480				12851707	Standard	NM_001184717		Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.1252C>T	3.37:g.156421217C>T	ENSP00000420612:p.Leu418Phe					TIPARP_ENST00000542783.1_Missense_Mutation_p.L418F|TIPARP_ENST00000486483.1_Missense_Mutation_p.L418F|TIPARP_ENST00000295924.7_Missense_Mutation_p.L418F	p.L418F	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		5	1840	+			418					D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	Missense_Mutation	SNP	ENST00000461166.1	37	c.1252C>T	CCDS3177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.0|22.0	4.236173|4.236173	0.79800|0.79800	.|.	.|.	ENSG00000163659|ENSG00000163659	ENST00000486483;ENST00000295924;ENST00000461166;ENST00000473702;ENST00000481853;ENST00000542783|ENST00000495891	T;T;T;T;T;T|T	0.32272|0.31510	1.46;1.46;1.46;1.46;1.46;1.46|1.49	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	0.066745|.	0.64402|.	D|.	0.000016|.	T|T	0.37625|0.37625	0.1010|0.1010	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	P|.	0.47841|.	0.901|.	P|.	0.47786|.	0.557|.	T|T	0.04242|0.04242	-1.0966|-1.0966	10|7	0.37606|0.20519	T|T	0.19|0.43	.|.	13.0582|13.0582	0.58992|0.58992	0.0:0.9217:0.0:0.0783|0.0:0.9217:0.0:0.0783	rs1137515|rs1137515	418|.	Q7Z3E1|.	PARPT_HUMAN|.	F|I	418|120	ENSP00000418757:L418F;ENSP00000295924:L418F;ENSP00000420612:L418F;ENSP00000419982:L418F;ENSP00000418829:L418F;ENSP00000438345:L418F|ENSP00000420141:T120I	ENSP00000295924:L418F|ENSP00000420141:T120I	L|T	+|+	1|2	0|0	TIPARP|TIPARP	157903911|157903911	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	2.256000|2.256000	0.43231|0.43231	2.503000|2.503000	0.84419|0.84419	0.585000|0.585000	0.79938|0.79938	CTT|ACT		0.383	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351618.1	NM_015508		5	42	0	0	0	0.248553	0	5	42				
BAI2	576	broad.mit.edu	37	1	32207698	32207698	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr1:32207698C>T	ENST00000373658.3	-	8	1714	c.1373G>A	c.(1372-1374)gGt>gAt	p.G458D	BAI2_ENST00000398542.1_Missense_Mutation_p.G391D|BAI2_ENST00000527361.1_Missense_Mutation_p.G458D|BAI2_ENST00000398556.3_Missense_Mutation_p.G406D|BAI2_ENST00000398538.1_Missense_Mutation_p.G446D|BAI2_ENST00000440175.2_Missense_Mutation_p.G100D|BAI2_ENST00000257070.4_Missense_Mutation_p.G458D|BAI2_ENST00000373655.2_Missense_Mutation_p.G458D|BAI2_ENST00000398547.1_Missense_Mutation_p.G391D	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	458	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		AGTGAGGGCACCCGTGCATGT	0.677																																						ENST00000373658.3																			0				breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55						c.(1372-1374)gGt>gAt		brain-specific angiogenesis inhibitor 2							30.0	35.0	34.0					1																	32207698		2203	4300	6503	SO:0001583	missense	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32207698C>T	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.1373G>A	1.37:g.32207698C>T	ENSP00000362762:p.Gly458Asp					BAI2_ENST00000527361.1_Missense_Mutation_p.G458D|BAI2_ENST00000398538.1_Missense_Mutation_p.G446D|BAI2_ENST00000398547.1_Missense_Mutation_p.G391D|BAI2_ENST00000440175.2_Missense_Mutation_p.G100D|BAI2_ENST00000373655.2_Missense_Mutation_p.G458D|BAI2_ENST00000398542.1_Missense_Mutation_p.G391D|BAI2_ENST00000257070.4_Missense_Mutation_p.G458D|BAI2_ENST00000398556.3_Missense_Mutation_p.G406D	p.G458D	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	8	1714	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	458			TSP type-1 3.		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	c.1373G>A	CCDS346.2	.	.	.	.	.	.	.	.	.	.	C	21.8	4.202795	0.79127	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538;ENST00000420125;ENST00000533175	T;T;T;T;T;T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51;0.51;0.51;0.51;0.51;0.51	4.1	3.19	0.36642	.	0.209202	0.24247	N	0.040215	T	0.75561	0.3866	M	0.91612	3.225	0.53688	D	0.99997	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0;1.0;1.0	T	0.79619	-0.1728	10	0.72032	D	0.01	.	11.0446	0.47850	0.0:0.9064:0.0:0.0936	.	391;458;446;100;391;458;458	A2A3C3;O60241-4;O60241-3;B4DKC3;A2A3C1;O60241-2;O60241	.;.;.;.;.;.;BAI2_HUMAN	D	406;391;458;458;391;458;458;100;446;396;437	ENSP00000381564:G406D;ENSP00000381555:G391D;ENSP00000362762:G458D;ENSP00000362759:G458D;ENSP00000381550:G391D;ENSP00000257070:G458D;ENSP00000435397:G458D;ENSP00000391071:G100D;ENSP00000381548:G446D;ENSP00000410921:G396D;ENSP00000437219:G437D	ENSP00000257070:G458D	G	-	2	0	BAI2	31980285	1.000000	0.71417	0.477000	0.27303	0.991000	0.79684	4.793000	0.62474	1.079000	0.41038	0.561000	0.74099	GGT		0.677	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		4	38	0	0	0	0.150653	0	4	38				
EIF4A1	1973	broad.mit.edu	37	17	7481488	7481488	+	Silent	SNP	A	A	G			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr17:7481488A>G	ENST00000293831.8	+	10	1018	c.1002A>G	c.(1000-1002)agA>agG	p.R334R	EIF4A1_ENST00000582746.1_Intron|EIF4A1_ENST00000577269.1_Intron|EIF4A1_ENST00000581808.1_3'UTR|SNORA67_ENST00000384423.1_RNA|CD68_ENST00000250092.6_5'Flank|SNORD10_ENST00000459579.1_RNA|CD68_ENST00000380498.6_5'Flank|SENP3-EIF4A1_ENST00000579777.1_RNA	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	334	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						CGTAGGCCAGAGGCATTGATG	0.507																																					Melanoma(120;278 1668 15796 27423 46368)	ENST00000293831.8																			0				NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						c.(1000-1002)agA>agG		eukaryotic translation initiation factor 4A1							91.0	85.0	87.0					17																	7481488		2203	4300	6503	SO:0001819	synonymous_variant	1973				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity	g.chr17:7481488A>G	D13748	CCDS11113.1, CCDS58511.1	17p13	2012-02-23	2010-02-10		ENSG00000161960	ENSG00000161960		"""DEAD-boxes"""	3282	protein-coding gene	gene with protein product		602641	"""eukaryotic translation initiation factor 4A, isoform 1"""	EIF4A		8493113, 9790779	Standard	NM_001416		Approved	DDX2A, EIF-4A		P60842	OTTHUMG00000108149	ENST00000293831.8:c.1002A>G	17.37:g.7481488A>G						EIF4A1_ENST00000582746.1_Intron|EIF4A1_ENST00000581808.1_3'UTR|EIF4A1_ENST00000577269.1_Intron|SENP3-EIF4A1_ENST00000579777.1_RNA	p.R334R	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN			10	1018	+			334			Helicase C-terminal.		B2R6L8|D3DTP9|J3QLC4|P04765|Q5U018|Q61516	Silent	SNP	ENST00000293831.8	37	c.1002A>G	CCDS11113.1																																																																																				0.507	EIF4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226952.6	NM_001416		3	74	0	0	0	0.150653	0	3	74				
CYP2C8	1558	broad.mit.edu	37	10	96802700	96802700	+	Missense_Mutation	SNP	C	C	T	rs147133669	byFrequency	TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr10:96802700C>T	ENST00000371270.3	-	7	1190	c.1096G>A	c.(1096-1098)Gtg>Atg	p.V366M	CYP2C8_ENST00000535898.1_Missense_Mutation_p.V264M|CYP2C8_ENST00000539050.1_Missense_Mutation_p.V280M	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	366					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|omega-hydroxylase P450 pathway (GO:0097267)|organic acid metabolic process (GO:0006082)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Abiraterone(DB05812)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Almotriptan(DB00918)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Candesartan(DB00796)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cisapride(DB00604)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Domperidone(DB01184)|Eltrombopag(DB06210)|Enzalutamide(DB08899)|Erlotinib(DB00530)|Estradiol(DB00783)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fluorouracil(DB00544)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Halofantrine(DB01218)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Liotrix(DB01583)|Loperamide(DB00836)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Methadone(DB00333)|Metronidazole(DB00916)|Mirtazapine(DB00370)|Mometasone(DB00764)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Naloxone(DB01183)|Naproxen(DB00788)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Omeprazole(DB00338)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paramethadione(DB00617)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Perphenazine(DB00850)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quinidine(DB00908)|Quinine(DB00468)|Raloxifene(DB00481)|Regorafenib(DB08896)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Salmeterol(DB00938)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Sorafenib(DB00398)|Spironolactone(DB00421)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Tazarotene(DB00799)|Temazepam(DB00231)|Terbinafine(DB00857)|Testosterone(DB00624)|Theophylline(DB00277)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Torasemide(DB00214)|Trametinib(DB08911)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vismodegib(DB08828)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zopiclone(DB01198)	GCATGGGGCACACCGGTGGGG	0.488													C|||	3	0.000599042	0.0008	0.0014	5008	,	,		20568	0.0		0.001	False		,,,				2504	0.0					ENST00000371270.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21						c.(1096-1098)Gtg>Atg		cytochrome P450, family 2, subfamily C, polypeptide 8	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	C	MET/VAL,MET/VAL,MET/VAL,MET/VAL	4,4402	8.1+/-20.4	0,4,2199	243.0	204.0	217.0		1096,886,790,886	-9.0	0.0	10	dbSNP_134	217	0,8600		0,0,4300	no	missense,missense,missense,missense	CYP2C8	NM_000770.3,NM_001198853.1,NM_001198854.1,NM_001198855.1	21,21,21,21	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	benign,benign,benign,benign	366/491,296/421,264/389,296/421	96802700	4,13002	2203	4300	6503	SO:0001583	missense	1558				exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding	g.chr10:96802700C>T	M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115		"""Cytochrome P450s"""	2622	protein-coding gene	gene with protein product		601129	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"""			7841444	Standard	NM_001198853		Approved	CPC8	uc001kkb.3	P10632	OTTHUMG00000018804	ENST00000371270.3:c.1096G>A	10.37:g.96802700C>T	ENSP00000360317:p.Val366Met					CYP2C8_ENST00000535898.1_Missense_Mutation_p.V264M|CYP2C8_ENST00000539050.1_Missense_Mutation_p.V280M	p.V366M	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN		all cancers(201;6.21e-05)	7	1190	-		Colorectal(252;0.0397)	366					A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	Missense_Mutation	SNP	ENST00000371270.3	37	c.1096G>A	CCDS7438.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	9.561	1.118553	0.20877	9.08E-4	0.0	ENSG00000138115	ENST00000371270;ENST00000535868;ENST00000535898;ENST00000539050	T;T;T	0.70516	-0.49;-0.49;-0.49	4.49	-8.97	0.00758	.	0.552015	0.14889	U	0.292505	T	0.57184	0.2036	L	0.60957	1.885	0.09310	N	1	P;P;B;B	0.39071	0.508;0.658;0.364;0.41	B;B;B;B	0.37943	0.156;0.124;0.261;0.124	T	0.55636	-0.8110	10	0.72032	D	0.01	.	8.5394	0.33384	0.1303:0.5889:0.1179:0.1629	.	280;264;334;366	F5H7Q9;B7Z1F6;B7Z8S1;P10632	.;.;.;CP2C8_HUMAN	M	366;333;264;280	ENSP00000360317:V366M;ENSP00000445062:V264M;ENSP00000442343:V280M	ENSP00000360317:V366M	V	-	1	0	CYP2C8	96792690	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.941000	0.00329	-2.337000	0.00628	-1.105000	0.02106	GTG		0.488	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049499.2	NM_000770		4	113	0	0	0	0.150653	0	4	113				
IGHV1OR15-9	390531	broad.mit.edu	37	15	20170018	20170018	+	RNA	SNP	C	C	G			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr15:20170018C>G	ENST00000338912.5	-	0	253									immunoglobulin heavy variable 1/OR15-9 (non-functional)									p.G85A(1)									GGTGACTCTGCCCTGGAACTT	0.547																																						ENST00000338912.5																			1	Substitution - Missense(1)	p.G85A(1)	lung(1)																	171.0	166.0	167.0					15																	20170018		2107	4229	6336			0							g.chr15:20170018C>G	L25542		15q11.1	2013-10-18	2008-08-22		ENSG00000188403	ENSG00000188403		"""Immunoglobulins / IGH orphons"""	5569	other	immunoglobulin gene			"""immunoglobulin heavy variable 1/OR15-9"", ""V-set and immunoglobulin domain containing 7"""	VSIG7		7959766	Standard	NG_032069		Approved	IGHV1/OR15-9, IGHV1OR159			OTTHUMG00000171652		15.37:g.20170018C>G														0	253	-									RNA	SNP	ENST00000338912.5	37																																																																																						0.547	IGHV1OR15-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000414646.4			3	122	0	0	0	0.150653	0	3	122				
NPAS2	4862	broad.mit.edu	37	2	101564729	101564729	+	Silent	SNP	C	C	T			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr2:101564729C>T	ENST00000335681.5	+	6	681	c.396C>T	c.(394-396)ttC>ttT	p.F132F	NPAS2_ENST00000486017.1_3'UTR|NPAS2_ENST00000542504.1_Silent_p.F197F	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	132	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGTTAAATTTCCTCCCAGAAC	0.348																																						ENST00000335681.5																			0				cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(394-396)ttC>ttT		neuronal PAS domain protein 2							116.0	113.0	114.0					2																	101564729		2203	4300	6503	SO:0001819	synonymous_variant	4862				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:101564729C>T	U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"""Basic helix-loop-helix proteins"""	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.396C>T	2.37:g.101564729C>T						NPAS2_ENST00000542504.1_Silent_p.F197F|NPAS2_ENST00000486017.1_3'UTR	p.F132F	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN			6	681	+			132			PAS 1.		Q4ZFV9|Q53SQ3|Q86V96|Q99629	Silent	SNP	ENST00000335681.5	37	c.396C>T	CCDS2048.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.880|7.880	0.730047|0.730047	0.15507|0.15507	.|.	.|.	ENSG00000170485|ENSG00000170485	ENST00000448812|ENST00000427413	.|.	.|.	.|.	4.97|4.97	4.1|4.1	0.47936|0.47936	.|.	.|.	.|.	.|.	.|.	T|T	0.59998|0.59998	0.2235|0.2235	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.57458|0.57458	-0.7808|-0.7808	4|4	.|.	.|.	.|.	.|.	9.8791|9.8791	0.41222|0.41222	0.0:0.8442:0.0:0.1558|0.0:0.8442:0.0:0.1558	.|.	.|.	.|.	.|.	S|F	122|198	.|.	.|.	P|S	+|+	1|2	0|0	NPAS2|NPAS2	100931161|100931161	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	1.996000|1.996000	0.40776|0.40776	1.309000|1.309000	0.44985|0.44985	0.650000|0.650000	0.86243|0.86243	CCT|TCC		0.348	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3			32	47	0	0	0	0.788014	0	32	47				
HAS1	3036	broad.mit.edu	37	19	52219536	52219536	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr19:52219536C>T	ENST00000222115.1	-	4	1068	c.1034G>A	c.(1033-1035)cGc>cAc	p.R345H	HAS1_ENST00000540069.2_Missense_Mutation_p.R344H|HAS1_ENST00000601714.1_Missense_Mutation_p.R352H|HAS1_ENST00000594621.1_Intron	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	345					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)	p.R345H(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GCTGAGCATGCGGTTGGTGAG	0.522																																					NSCLC(132;636 2450 45807 47979)	ENST00000540069.2																			1	Substitution - Missense(1)	p.R345H(1)	kidney(1)	breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40						c.(1030-1032)cGc>cAc		hyaluronan synthase 1							106.0	97.0	100.0					19																	52219536		2203	4300	6503	SO:0001583	missense	3036				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding	g.chr19:52219536C>T	U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.1034G>A	19.37:g.52219536C>T	ENSP00000222115:p.Arg345His					HAS1_ENST00000222115.1_Missense_Mutation_p.R345H|HAS1_ENST00000601714.1_Missense_Mutation_p.R352H|HAS1_ENST00000594621.1_Intron	p.R344H			Q92839	HAS1_HUMAN		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	4	1091	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	345					Q14470|Q9NS49	Missense_Mutation	SNP	ENST00000222115.1	37	c.1031G>A	CCDS12838.1	.	.	.	.	.	.	.	.	.	.	c	20.5	4.002682	0.74932	.	.	ENSG00000105509	ENST00000540069;ENST00000222115	T;T	0.69040	-0.37;-0.37	3.35	3.35	0.38373	.	0.073864	0.56097	U	0.000031	D	0.82852	0.5127	M	0.90483	3.12	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.70935	0.927;0.971;0.971	D	0.86306	0.1683	10	0.66056	D	0.02	-17.0936	12.592	0.56447	0.0:1.0:0.0:0.0	.	344;345;344	G3V1S7;Q92839;Q8IYH3	.;HAS1_HUMAN;.	H	344;345	ENSP00000445021:R344H;ENSP00000222115:R345H	ENSP00000222115:R345H	R	-	2	0	HAS1	56911348	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	7.614000	0.82996	1.608000	0.50180	0.165000	0.16767	CGC		0.522	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	NM_001523		7	75	0	0	0	0.278610	0	7	75				
CHRM4	1132	broad.mit.edu	37	11	46407206	46407206	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr11:46407206G>A	ENST00000433765.2	-	1	901	c.902C>T	c.(901-903)gCc>gTc	p.A301V		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	301					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|regulation of locomotion (GO:0040012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GTTCTGGGTGGCACTGCCTGA	0.697																																					Esophageal Squamous(171;1020 1936 4566 30205 42542)	ENST00000433765.2																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20						c.(901-903)gCc>gTc		cholinergic receptor, muscarinic 4	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)						48.0	59.0	55.0					11																	46407206		2127	4224	6351	SO:0001583	missense	1132				cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity	g.chr11:46407206G>A	M16405	CCDS44581.1	11p12-p11.2	2012-08-08			ENSG00000180720	ENSG00000180720		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1953	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 4"""	118495				1577490	Standard	NM_000741		Approved		uc001nct.1	P08173	OTTHUMG00000154371	ENST00000433765.2:c.902C>T	11.37:g.46407206G>A	ENSP00000409378:p.Ala301Val						p.A301V	NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN		GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	1	901	-			301					B2RPP4|Q0VD60|Q4VBK7	Missense_Mutation	SNP	ENST00000433765.2	37	c.902C>T	CCDS44581.1	.	.	.	.	.	.	.	.	.	.	g	7.438	0.640047	0.14386	.	.	ENSG00000180720	ENST00000433765	T	0.58940	0.3	4.09	2.02	0.26589	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.33265	0.0857	N	0.16266	0.395	0.27656	N	0.947234	B	0.06786	0.001	B	0.10450	0.005	T	0.21586	-1.0241	9	0.12103	T	0.63	.	4.1601	0.10280	0.529:0.0:0.471:0.0	.	301	P08173	ACM4_HUMAN	V	301	ENSP00000409378:A301V	ENSP00000409378:A301V	A	-	2	0	CHRM4	46363782	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	4.279000	0.58953	0.934000	0.37316	0.457000	0.33378	GCC		0.697	CHRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334985.1	NM_000741		3	44	0	0	0	0.150653	0	3	44				
DPY19L2P2	349152	broad.mit.edu	37	7	102912190	102912190	+	RNA	SNP	T	T	G			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr7:102912190T>G	ENST00000312132.4	-	0	2389							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										TCTGGATAAATATGGAAGCGT	0.343																																						ENST00000312132.4																			0																																																			0							g.chr7:102912190T>G	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102912190T>G														0	2389	-								Q8N9V4|Q8ND62	RNA	SNP	ENST00000312132.4	37																																																																																						0.343	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		3	39	0	0	0	0.115264	0	3	39				
KIAA0895L	653319	broad.mit.edu	37	16	67214355	67214355	+	Silent	SNP	G	G	A			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr16:67214355G>A	ENST00000290881.7	-	3	1085	c.159C>T	c.(157-159)gtC>gtT	p.V53V	KIAA0895L_ENST00000563902.1_Silent_p.V53V|KIAA0895L_ENST00000561621.1_Silent_p.V53V|KIAA0895L_ENST00000563831.2_Intron			Q68EN5	K895L_HUMAN	KIAA0895-like	53	Pro-rich.									breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						GCGCTGGGGGGACTGCCAGAG	0.657																																						ENST00000290881.7																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						c.(157-159)gtC>gtT		KIAA0895-like							11.0	16.0	14.0					16																	67214355		2007	4140	6147	SO:0001819	synonymous_variant	653319							g.chr16:67214355G>A	AK092303	CCDS42177.1	16q22.1	2008-11-27				ENSG00000196123			34408	protein-coding gene	gene with protein product							Standard	NM_001040715		Approved	LOC653319	uc002ert.3	Q68EN5		ENST00000290881.7:c.159C>T	16.37:g.67214355G>A						KIAA0895L_ENST00000561621.1_Silent_p.V53V|KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000563902.1_Silent_p.V53V	p.V53V			Q68EN5	K895L_HUMAN			3	1085	-			53			Pro-rich.		A2VCS8|Q8N3H9|Q8NAQ5|Q96IE5	Silent	SNP	ENST00000290881.7	37	c.159C>T	CCDS42177.1																																																																																				0.657	KIAA0895L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421193.4	NM_001040715		8	14	0	0	0	0.307466	0	8	14				
LOC644669	644669	broad.mit.edu	37	18	15323276	15323276	+	RNA	SNP	A	A	T	rs200953619		TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr18:15323276A>T	ENST00000455308.2	-	0	572				RNU6-721P_ENST00000410155.1_RNA	NR_027417.1																						ATCAACTGCAATTGCATTTGC	0.308																																						ENST00000455308.2																			0																																																			0							g.chr18:15323276A>T																													18.37:g.15323276A>T								NR_027417.1						0	572	-									RNA	SNP	ENST00000455308.2	37																																																																																						0.308	AP005901.1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373635.1			3	17	0	0	0	0.217242	0	3	17				
ACAP1	9744	broad.mit.edu	37	17	7251632	7251632	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr17:7251632A>G	ENST00000158762.3	+	17	1722	c.1516A>G	c.(1516-1518)Aag>Gag	p.K506E	ACAP1_ENST00000571471.1_5'Flank|ACAP1_ENST00000570504.1_5'Flank|ACAP1_ENST00000574499.1_5'Flank|ACAP1_ENST00000575415.1_5'Flank	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	506	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.|Required for interaction with GULP1.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						CAGGCAGGAGAAGGAGGCCTG	0.627																																						ENST00000158762.3																			0				NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						c.(1516-1518)Aag>Gag		ArfGAP with coiled-coil, ankyrin repeat and PH domains 1							42.0	32.0	36.0					17																	7251632		2203	4299	6502	SO:0001583	missense	9744				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding	g.chr17:7251632A>G	D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16467	protein-coding gene	gene with protein product		607763	"""centaurin, beta 1"""	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.1516A>G	17.37:g.7251632A>G	ENSP00000158762:p.Lys506Glu						p.K506E	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN			17	1722	+			506			Arf-GAP.|Required for interaction with GULP1.		Q53XN9	Missense_Mutation	SNP	ENST00000158762.3	37	c.1516A>G	CCDS11101.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.580524	0.86645	.	.	ENSG00000072818	ENST00000158762	T	0.44482	0.92	5.22	5.22	0.72569	.	0.111417	0.64402	D	0.000011	T	0.68063	0.2960	M	0.86573	2.825	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.74359	-0.3691	10	0.87932	D	0	.	13.1034	0.59233	1.0:0.0:0.0:0.0	.	506	Q15027	ACAP1_HUMAN	E	506	ENSP00000158762:K506E	ENSP00000158762:K506E	K	+	1	0	ACAP1	7192356	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	6.929000	0.75852	2.196000	0.70406	0.533000	0.62120	AAG		0.627	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220049.4	NM_014716		7	23	0	0	0	0.278610	0	7	23				
RAI14	26064	broad.mit.edu	37	5	34826488	34826488	+	Silent	SNP	C	C	T			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr5:34826488C>T	ENST00000265109.3	+	16	2990	c.2703C>T	c.(2701-2703)ctC>ctT	p.L901L	RAI14_ENST00000397449.1_Silent_p.L894L|RAI14_ENST00000503673.1_Silent_p.L901L|RAI14_ENST00000515799.1_Silent_p.L904L|RAI14_ENST00000512629.1_Silent_p.L872L|RAI14_ENST00000506376.1_Silent_p.L893L|RAI14_ENST00000428746.2_Silent_p.L901L	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	901						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					TGAACAGCCTCTCCCAGCTCT	0.498																																						ENST00000265109.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2701-2703)ctC>ctT		retinoic acid induced 14							80.0	81.0	81.0					5																	34826488		2203	4300	6503	SO:0001819	synonymous_variant	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34826488C>T	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.2703C>T	5.37:g.34826488C>T						RAI14_ENST00000506376.1_Silent_p.L893L|RAI14_ENST00000397449.1_Silent_p.L894L|RAI14_ENST00000428746.2_Silent_p.L901L|RAI14_ENST00000515799.1_Silent_p.L904L|RAI14_ENST00000503673.1_Silent_p.L901L|RAI14_ENST00000512629.1_Silent_p.L872L	p.L901L	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN			16	2990	+	all_lung(31;0.000191)		901					E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Silent	SNP	ENST00000265109.3	37	c.2703C>T	CCDS34142.1																																																																																				0.498	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		28	49	0	0	0	0.706142	0	28	49				
GNAS	2778	broad.mit.edu	37	20	57484597	57484597	+	Missense_Mutation	SNP	G	G	T	rs137854533		TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr20:57484597G>T	ENST00000371085.3	+	9	1105	c.681G>T	c.(679-681)caG>caT	p.Q227H	GNAS_ENST00000265620.7_Missense_Mutation_p.Q212H|GNAS_ENST00000371102.4_Missense_Mutation_p.Q856H|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371095.3_Missense_Mutation_p.Q213H|GNAS_ENST00000306090.10_Missense_Mutation_p.Q213H|GNAS_ENST00000371100.4_Missense_Mutation_p.Q870H|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000354359.7_Missense_Mutation_p.Q228H|GNAS_ENST00000464624.2_3'UTR	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	227			Q -> H (in pituitary adenoma; ACTH- secreting adenoma; in a patient with severe Cushing syndrome complicated by psychosis). {ECO:0000269|PubMed:7737262}.|Q -> R (in somatotrophinoma). {ECO:0000269|PubMed:2549426}.		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.Q227H(7)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TGGGTGGCCAGCGCGATGAAC	0.512			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000371100.4				Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""	E			pituitary adenoma		7	Substitution - Missense(7)	p.Q227H(7)	thyroid(7)	adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(2608-2610)caG>caT		GNAS complex locus							108.0	91.0	97.0					20																	57484597		2203	4300	6503	SO:0001583	missense	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57484597G>T	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.681G>T	20.37:g.57484597G>T	ENSP00000360126:p.Gln227His	TSP Lung(22;0.16)				GNAS_ENST00000306090.10_Missense_Mutation_p.Q213H|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371102.4_Missense_Mutation_p.Q856H|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371085.3_Missense_Mutation_p.Q227H|GNAS_ENST00000354359.7_Missense_Mutation_p.Q228H|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000371095.3_Missense_Mutation_p.Q213H|GNAS_ENST00000265620.7_Missense_Mutation_p.Q212H	p.Q870H	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		9	3162	+	all_lung(29;0.0104)		227					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371085.3	37	c.2610G>T	CCDS13472.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.594386	0.46214	.	.	ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090	D;D;D;D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93;-1.93;-1.93;-1.93	5.59	2.09	0.27110	.	0.000000	0.85682	D	0.000000	D	0.93067	0.7793	H	0.95611	3.695	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.994;0.992;0.975;0.998	D	0.91742	0.5405	10	0.87932	D	0	.	7.091	0.25283	0.4002:0.0:0.5998:0.0	.	227;228;212;870	P63092;A6NI00;P63092-3;Q5JWF2	GNAS2_HUMAN;.;.;GNAS1_HUMAN	H	870;856;213;227;228;212;213	ENSP00000360141:Q870H;ENSP00000360143:Q856H;ENSP00000360136:Q213H;ENSP00000360126:Q227H;ENSP00000346328:Q228H;ENSP00000265620:Q212H;ENSP00000304472:Q213H	ENSP00000265620:Q212H	Q	+	3	2	GNAS	56917992	1.000000	0.71417	0.998000	0.56505	0.068000	0.16541	2.207000	0.42788	0.844000	0.35094	-0.145000	0.13849	CAG		0.512	GNAS-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080431.2	NM_000516		13	35	1	0	2.23348e-06	0.500413	2.48165e-06	13	35				
LAMA3	3909	broad.mit.edu	37	18	21396413	21396413	+	Silent	SNP	C	C	T			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr18:21396413C>T	ENST00000313654.9	+	18	2350	c.2109C>T	c.(2107-2109)tgC>tgT	p.C703C	LAMA3_ENST00000399516.3_Silent_p.C703C	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	703	Domain V.|Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CGGGAGTGTGCCAGTGCCGAG	0.547																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(2107-2109)tgC>tgT		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						162.0	182.0	175.0					18																	21396413		2138	4226	6364	SO:0001819	synonymous_variant	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21396413C>T	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.2109C>T	18.37:g.21396413C>T						LAMA3_ENST00000399516.3_Silent_p.C703C	p.C703C	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			18	2350	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		703			Domain V.|Laminin EGF-like 8.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	37	c.2109C>T	CCDS42419.1																																																																																				0.547	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		3	43	0	0	0	0.115264	0	3	43				
DHX30	22907	broad.mit.edu	37	3	47890987	47890987	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr3:47890987G>T	ENST00000445061.1	+	20	3541	c.3134G>T	c.(3133-3135)aGc>aTc	p.S1045I	MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000446256.2_Missense_Mutation_p.S1006I|DHX30_ENST00000457607.1_Missense_Mutation_p.S1073I|DHX30_ENST00000348968.4_Missense_Mutation_p.S1017I	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	1045						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AAGCCCAACAGCGTCACATAT	0.592																																						ENST00000446256.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(3016-3018)aGc>aTc		DEAH (Asp-Glu-Ala-His) box helicase 30							90.0	82.0	85.0					3																	47890987		2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47890987G>T	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.3134G>T	3.37:g.47890987G>T	ENSP00000405620:p.Ser1045Ile					DHX30_ENST00000457607.1_Missense_Mutation_p.S1073I|DHX30_ENST00000348968.4_Missense_Mutation_p.S1017I|DHX30_ENST00000445061.1_Missense_Mutation_p.S1045I	p.S1006I	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	21	3589	+			1045					A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.3017G>T	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.448366	0.43429	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.03496	3.92;3.92;3.92;3.91	5.25	4.38	0.52667	Domain of unknown function DUF1605 (1);	0.090751	0.64402	D	0.000001	T	0.06872	0.0175	M	0.64997	1.995	0.46478	D	0.999065	B;B	0.30634	0.288;0.232	B;B	0.34038	0.174;0.113	T	0.11084	-1.0602	10	0.56958	D	0.05	.	12.581	0.56390	0.0794:0.0:0.9206:0.0	.	1045;1006	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	I	1006;1045;1017;1073	ENSP00000392601:S1006I;ENSP00000405620:S1045I;ENSP00000343442:S1017I;ENSP00000394682:S1073I	ENSP00000343442:S1017I	S	+	2	0	DHX30	47865991	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	5.899000	0.69846	1.215000	0.43411	0.655000	0.94253	AGC		0.592	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		4	54	1	0	0.00024832	0.150653	0.000256883	4	54				
IGHV1OR15-9	390531	broad.mit.edu	37	15	20170029	20170029	+	RNA	SNP	C	C	T			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr15:20170029C>T	ENST00000338912.5	-	0	242									immunoglobulin heavy variable 1/OR15-9 (non-functional)																		CCTGGAACTTCTGTGCATAGC	0.547																																						ENST00000338912.5																			0																				159.0	154.0	156.0					15																	20170029		2104	4233	6337			0							g.chr15:20170029C>T	L25542		15q11.1	2013-10-18	2008-08-22		ENSG00000188403	ENSG00000188403		"""Immunoglobulins / IGH orphons"""	5569	other	immunoglobulin gene			"""immunoglobulin heavy variable 1/OR15-9"", ""V-set and immunoglobulin domain containing 7"""	VSIG7		7959766	Standard	NG_032069		Approved	IGHV1/OR15-9, IGHV1OR159			OTTHUMG00000171652		15.37:g.20170029C>T														0	242	-									RNA	SNP	ENST00000338912.5	37																																																																																						0.547	IGHV1OR15-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000414646.4			4	100	0	0	0	0.184627	0	4	100				
CRY1	1407	broad.mit.edu	37	12	107415951	107415951	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr12:107415951C>T	ENST00000008527.5	-	2	1045	c.178G>A	c.(178-180)Gag>Aag	p.E60K		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome circadian clock 1	60	Photolyase/cryptochrome alpha/beta.				blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|lipid storage (GO:0019915)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of glucocorticoid secretion (GO:2000850)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of DNA damage checkpoint (GO:2000001)|response to glucagon (GO:0033762)|response to insulin (GO:0032868)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|double-stranded DNA binding (GO:0003690)|nuclear hormone receptor binding (GO:0035257)|nucleotide binding (GO:0000166)|phosphatase binding (GO:0019902)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin binding (GO:0043130)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						TCAAGATCCTCAAGACACTGA	0.313																																						ENST00000008527.5																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						c.(178-180)Gag>Aag		cryptochrome 1 (photolyase-like)							78.0	84.0	82.0					12																	107415951		2203	4300	6503	SO:0001583	missense	1407				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding	g.chr12:107415951C>T	BC030519	CCDS9112.1	12q23-q24.1	2014-01-17	2014-01-17		ENSG00000008405	ENSG00000008405			2384	protein-coding gene	gene with protein product		601933	"""cryptochrome 1 (photolyase-like)"""	PHLL1		8921389	Standard	NM_004075		Approved		uc001tmi.4	Q16526	OTTHUMG00000170005	ENST00000008527.5:c.178G>A	12.37:g.107415951C>T	ENSP00000008527:p.Glu60Lys						p.E60K	NM_004075.3	NP_004066.1	Q16526	CRY1_HUMAN			2	1045	-			60			DNA photolyase.			Missense_Mutation	SNP	ENST00000008527.5	37	c.178G>A	CCDS9112.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953221	0.73902	.	.	ENSG00000008405	ENST00000008527	.	.	.	5.25	5.25	0.73442	Rossmann-like alpha/beta/alpha sandwich fold (1);DNA photolyase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.66577	0.2803	M	0.68593	2.085	0.80722	D	1	B	0.21309	0.054	B	0.23852	0.049	T	0.62567	-0.6827	9	0.21014	T	0.42	-12.9293	18.4266	0.90611	0.0:1.0:0.0:0.0	.	60	Q16526	CRY1_HUMAN	K	60	.	ENSP00000008527:E60K	E	-	1	0	CRY1	105940081	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.552000	0.82192	2.448000	0.82819	0.555000	0.69702	GAG		0.313	CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406827.1	NM_004075		5	85	0	0	0	0.248553	0	5	85				
ALPP	250	broad.mit.edu	37	2	233243529	233243531	+	In_Frame_Del	DEL	TGC	TGC	-	rs377162921		TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr2:233243529_233243531delTGC	ENST00000392027.2	+	1	286_288	c.17_19delTGC	c.(16-21)atgctg>atg	p.L13del	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	13					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GGGCCCTGCAtgctgctgctgct	0.616																																						ENST00000392027.2																			0				NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22						c.(16-21)atg>a		alkaline phosphatase, placental																																				SO:0001651	inframe_deletion	250					anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233243529_233243531delTGC	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.17_19delTGC	2.37:g.233243538_233243540delTGC	ENSP00000375881:p.Leu13del						p.ML6del	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	1	286_288	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	6					P05188|P06861|Q53S78|Q96DB7	In_Frame_Del	DEL	ENST00000392027.2	37	c.17_19delTGC	CCDS2490.1																																																																																				0.616	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		7	65						7	65	---	---	---	---
FAM66B	100128890	broad.mit.edu	37	8	7191540	7191541	+	lincRNA	DEL	CA	CA	-	rs376658666		TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr8:7191540_7191541delCA	ENST00000606573.1	-	0	703									family with sequence similarity 66, member B																		GGGGTGcacgcacacacacaca	0.53																																						ENST00000606573.1																			0																																																			0							g.chr8:7191540_7191541delCA			8p23.1	2013-07-05			ENSG00000215374	ENSG00000215374		"""Long non-coding RNAs"""	28890	non-coding RNA	RNA, long non-coding							Standard	NR_027423		Approved				OTTHUMG00000165383		8.37:g.7191550_7191551delCA														0	703	-									RNA	DEL	ENST00000606573.1	37																																																																																						0.530	FAM66B-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470344.1	NR_027423		7	24						7	24	---	---	---	---
TG	7038	broad.mit.edu	37	8	133945834	133945835	+	Frame_Shift_Ins	INS	-	-	TTCACCG			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr8:133945834_133945835insTTCACCG	ENST00000220616.4	+	24	4885_4886	c.4845_4846insTTCACCG	c.(4846-4848)ttcfs	p.-1618fs	TG_ENST00000377869.1_Frame_Shift_Ins_p.-1561fs|TG_ENST00000542445.1_Frame_Shift_Ins_p.-52fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin						hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCTGCAGCTTCTTCACCGTGTC	0.574																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(4843-4848)tttcacfs		thyroglobulin																																				SO:0001589	frameshift_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133945834_133945835insTTCACCG	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4846_4852dupTTCACCG	8.37:g.133945835_133945841dupTTCACCG	ENSP00000220616:p.Val1618fs					TG_ENST00000377869.1_Frame_Shift_Ins_p.H1559fs|TG_ENST00000542445.1_Frame_Shift_Ins_p.H50fs	p.H1616fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	24	4885_4886	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1616					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Frame_Shift_Ins	INS	ENST00000220616.4	37	c.4845_4846insTTCACCG	CCDS34944.1																																																																																				0.574	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		16	105						16	105	---	---	---	---
CTCFL	140690	broad.mit.edu	37	20	56099187	56099187	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr20:56099187delT	ENST00000608263.1	-	1	736	c.75delA	c.(73-75)aaafs	p.K25fs	CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000608158.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000423479.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000609232.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000608440.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000481655.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000608425.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000429804.3_Frame_Shift_Del_p.K25fs	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	25					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|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)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CCTTCAGGCCTTTTTCCGGCA	0.502																																						ENST00000426658.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(73-75)aafs		CCCTC-binding factor (zinc finger protein)-like							231.0	258.0	249.0					20																	56099187		2203	4300	6503	SO:0001589	frameshift_variant	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56099187delT		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.75delA	20.37:g.56099187delT	ENSP00000476783:p.Lys25fs					CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000429804.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000423479.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422109.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000433949.2_Frame_Shift_Del_p.K25fs	p.K25fs			Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		1	736	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		25					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Frame_Shift_Del	DEL	ENST00000608263.1	37	c.75delA	CCDS13459.1																																																																																				0.502	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		7	390						7	390	---	---	---	---
