#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ZNF747	65988	broad.mit.edu	37	16	30544430	30544430	+	Missense_Mutation	SNP	G	G	A	rs377029293		TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr16:30544430G>A	ENST00000252799.3	-	2	1193	c.526C>T	c.(526-528)Cgg>Tgg	p.R176W	ZNF747_ENST00000568028.1_Missense_Mutation_p.T128M|ZNF747_ENST00000569360.1_Missense_Mutation_p.T128M|ZNF747_ENST00000535210.1_Missense_Mutation_p.T128M|AC002310.12_ENST00000457283.3_RNA|AC002310.12_ENST00000569752.1_RNA|ZNF747_ENST00000395094.3_Missense_Mutation_p.R175W	NM_023931.2	NP_076420.1	Q9BV97	ZN747_HUMAN	zinc finger protein 747	176					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			kidney(1)|lung(3)|prostate(1)	5						CAGGGCTCCCGTCCCTTCCCT	0.602																																						ENST00000252799.3																			0				kidney(1)|lung(3)|prostate(1)	5						c.(526-528)Cgg>Tgg		zinc finger protein 747		G	TRP/ARG	1,4393	2.1+/-5.4	0,1,2196	82.0	83.0	83.0		526	-1.2	0.0	16		83	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF747	NM_023931.2	101	0,2,6495	AA,AG,GG		0.0116,0.0228,0.0154	benign	176/192	30544430	2,12992	2197	4300	6497	SO:0001583	missense	65988				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding	g.chr16:30544430G>A	BC001361	CCDS10682.1	16p11.2	2013-01-08			ENSG00000169955	ENSG00000169955		"""Zinc fingers, C2H2-type"", ""-"""	28350	protein-coding gene	gene with protein product						10493829	Standard	NM_023931		Approved	MGC2474	uc002dyn.3	Q9BV97	OTTHUMG00000132401	ENST00000252799.3:c.526C>T	16.37:g.30544430G>A	ENSP00000252799:p.Arg176Trp		Somatic				ZNF747_ENST00000569360.1_Missense_Mutation_p.T128M|ZNF747_ENST00000535210.1_Missense_Mutation_p.T128M|ZNF747_ENST00000395094.3_Missense_Mutation_p.R175W|ZNF747_ENST00000568028.1_Missense_Mutation_p.T128M	p.R176W	NM_023931.2	NP_076420.1	WXS	Illumina GAIIx	Phase_I	Q9BV97	ZN747_HUMAN			2	1193	-			176					A8K827|B7WNU3|Q59FB4|Q96NW0	Missense_Mutation	SNP	ENST00000252799.3	37	c.526C>T	CCDS10682.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.28|12.28	1.889307|1.889307	0.33348|0.33348	2.28E-4|2.28E-4	1.16E-4|1.16E-4	ENSG00000169955|ENSG00000169955	ENST00000252799;ENST00000395094|ENST00000535210	T;T|T	0.02552|0.04862	4.3;4.25|3.54	2.73|2.73	-1.19|-1.19	0.09585|0.09585	.|.	.|.	.|.	.|.	.|.	T|T	0.03434|0.03434	0.0099|0.0099	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.47459|0.47459	-0.9116|-0.9116	9|7	0.72032|0.33141	D|T	0.01|0.24	.|.	8.0234|8.0234	0.30423|0.30423	0.1104:0.2932:0.5964:0.0|0.1104:0.2932:0.5964:0.0	.|.	175;176|.	Q9BV97-2;Q9BV97|.	.;ZN747_HUMAN|.	W|M	176;175|128	ENSP00000252799:R176W;ENSP00000378528:R175W|ENSP00000441702:T128M	ENSP00000252799:R176W|ENSP00000441702:T128M	R|T	-|-	1|2	2|0	ZNF747|ZNF747	30451931|30451931	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.084000|0.084000	0.17831|0.17831	0.445000|0.445000	0.21677|0.21677	-0.254000|-0.254000	0.09500|0.09500	-1.786000|-1.786000	0.00637|0.00637	CGG|ACG		0.602	ZNF747-001	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255532.2	NM_023931		3	54	0	0	0	1	0	3	54				
B3GAT3	26229	broad.mit.edu	37	11	62389419	62389419	+	Start_Codon_SNP	SNP	T	T	C	rs139759238		TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr11:62389419T>C	ENST00000265471.5	-	1	228	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	B3GAT3_ENST00000531383.1_Start_Codon_SNP_p.M1V|B3GAT3_ENST00000534026.1_Start_Codon_SNP_p.M1V	NM_012200.3	NP_036332.2	O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3	1					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|glucuronosyltransferase activity (GO:0015020)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						TTCAGCTTCATggccgcgccg	0.726																																						ENST00000531383.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						c.(1-3)Atg>Gtg		beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)							40.0	36.0	38.0					11																	62389419		2202	4296	6498	SO:0001582	initiator_codon_variant	26229				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding	g.chr11:62389419T>C	AB009598	CCDS8025.1	11q12	2014-07-08	2014-07-08		ENSG00000149541	ENSG00000149541	2.4.1.135	"""Beta-1,3-glucuronyltransferases"""	923	protein-coding gene	gene with protein product	"""glucuronosyltransferase I"", ""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3"""	606374	"""beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)"""			9506957	Standard	NM_012200		Approved	GlcAT-I	uc001ntw.3	O94766	OTTHUMG00000167685	ENST00000265471.5:c.1A>G	11.37:g.62389419T>C	ENSP00000265471:p.Met1Val		Somatic				B3GAT3_ENST00000534026.1_Start_Codon_SNP_p.M1V|B3GAT3_ENST00000265471.5_Start_Codon_SNP_p.M1V	p.M1V			WXS	Illumina GAIIx	Phase_I	O94766	B3GA3_HUMAN			1	207	-			1					B7ZAB3|Q96I06|Q9UEP0	Translation_Start_Site	SNP	ENST00000265471.5	37	c.1A>G	CCDS8025.1	.	.	.	.	.	.	.	.	.	.	T	32	5.174616	0.94807	.	.	ENSG00000149541	ENST00000265471;ENST00000531383;ENST00000534026;ENST00000534715	T;T;T;T	0.64438	-0.06;-0.09;-0.1;0.47	4.8	4.8	0.61643	.	0.165491	0.50627	N	0.000110	T	0.71290	0.3322	.	.	.	0.80722	D	1	B;P	0.49447	0.001;0.924	B;P	0.60682	0.002;0.878	T	0.69650	-0.5088	9	0.33940	T	0.23	.	10.6578	0.45686	0.0:0.0:0.0:1.0	.	1;1	B7ZAB3;O94766	.;B3GA3_HUMAN	V	1	ENSP00000265471:M1V;ENSP00000431359:M1V;ENSP00000432474:M1V;ENSP00000432854:M1V	ENSP00000265471:M1V	M	-	1	0	B3GAT3	62145995	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.264000	0.58859	2.018000	0.59344	0.459000	0.35465	ATG		0.726	B3GAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395588.1	NM_012200	Missense_Mutation	3	24	0	0	0	1	0	3	24				
OSBPL2	9885	broad.mit.edu	37	20	60868864	60868864	+	Missense_Mutation	SNP	C	C	G			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr20:60868864C>G	ENST00000313733.3	+	14	1566	c.1364C>G	c.(1363-1365)cCc>cGc	p.P455R	OSBPL2_ENST00000439951.2_Missense_Mutation_p.P322A|OSBPL2_ENST00000471817.1_3'UTR|OSBPL2_ENST00000358053.2_Missense_Mutation_p.P443R	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	455					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GGCAATAACCCCTACACTGGG	0.582																																						ENST00000313733.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1363-1365)cCc>cGc		oxysterol binding protein-like 2							55.0	51.0	52.0					20																	60868864		2203	4300	6503	SO:0001583	missense	9885				lipid transport		lipid binding	g.chr20:60868864C>G	AB018315	CCDS13494.1, CCDS13495.1, CCDS63323.1	20q13.3	2008-08-01	2001-11-28		ENSG00000130703	ENSG00000130703		"""Oxysterol binding proteins"""	15761	protein-coding gene	gene with protein product		606731	"""oxysterol-binding protein-like 2"""			10588946, 11861666	Standard	NM_144498		Approved	KIAA0772, ORP-2	uc002yck.1	Q9H1P3	OTTHUMG00000032909	ENST00000313733.3:c.1364C>G	20.37:g.60868864C>G	ENSP00000316649:p.Pro455Arg		Somatic				OSBPL2_ENST00000439951.2_Missense_Mutation_p.P322A|OSBPL2_ENST00000471817.1_3'UTR|OSBPL2_ENST00000358053.2_Missense_Mutation_p.P443R	p.P455R	NM_144498.1	NP_653081.1	WXS	Illumina GAIIx	Phase_I	Q9H1P3	OSBL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.33e-06)		14	1566	+	Breast(26;7.76e-09)		455					A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	Missense_Mutation	SNP	ENST00000313733.3	37	c.1364C>G	CCDS13495.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.1|21.1	4.097111|4.097111	0.76870|0.76870	.|.	.|.	ENSG00000130703|ENSG00000130703	ENST00000439951|ENST00000358053;ENST00000313733	T|T;T	0.53206|0.31510	0.63|1.49;1.49	4.04|4.04	4.04|4.04	0.47022|0.47022	.|.	0.110120|0.110120	0.64402|0.64402	D|D	0.000007|0.000007	T|T	0.60573|0.60573	0.2279|0.2279	M|M	0.87900|0.87900	2.915|2.915	0.36876|0.36876	D|D	0.889151|0.889151	B|D;D	0.23316|0.71674	0.083|0.997;0.998	B|D;D	0.19946|0.76575	0.027|0.972;0.988	T|T	0.75054|0.75054	-0.3453|-0.3453	10|10	0.87932|0.72032	D|D	0|0.01	-11.8721|-11.8721	15.7764|15.7764	0.78224|0.78224	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	322|443;455	E7ET92|Q9H1P3-2;Q9H1P3	.|.;OSBL2_HUMAN	A|R	322|443;455	ENSP00000397602:P322A|ENSP00000350755:P443R;ENSP00000316649:P455R	ENSP00000397602:P322A|ENSP00000316649:P455R	P|P	+|+	1|2	0|0	OSBPL2|OSBPL2	60302259|60302259	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.817000|0.817000	0.46193|0.46193	5.538000|5.538000	0.67193|0.67193	1.798000|1.798000	0.52647|0.52647	0.561000|0.561000	0.74099|0.74099	CCT|CCC		0.582	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080021.1	NM_014835		24	37	0	0	0	1	0	24	37				
SLC25A6	293	broad.mit.edu	37	X	1508133	1508133	+	Splice_Site	SNP	C	C	A			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chrX:1508133C>A	ENST00000381401.5	-	2	1313		c.e2+1		SLC25A6_ENST00000475167.1_Splice_Site	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6						active induction of host immune response by virus (GO:0046732)|ADP transport (GO:0015866)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|modulation by virus of host morphology or physiology (GO:0019048)|protein targeting to mitochondrion (GO:0006626)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP:ADP antiporter activity (GO:0005471)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	gccACACGTACCCTTGGCCGT	0.627																																						ENST00000381401.5																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11						c.e2+1		solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	Clodronate(DB00720)						71.0	66.0	68.0					X																	1508133		2203	4296	6499	SO:0001630	splice_region_variant	293				active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding	g.chrX:1508133C>A	AY007135	CCDS14114.1	Xp22.32 and Yp11.3	2013-05-22			ENSG00000169100	ENSG00000169100		"""Pseudoautosomal regions / PAR1"", ""Solute carriers"""	10992	protein-coding gene	gene with protein product		300151, 403000		ANT3			Standard	NM_001636		Approved	ANT3Y, MGC17525	uc004cpt.3	P12236	OTTHUMG00000021058	ENST00000381401.5:c.598+1G>T	X.37:g.1508133C>A			Somatic				SLC25A6_ENST00000475167.1_Splice_Site		NM_001636.3	NP_001627.2	WXS	Illumina GAIIx	Phase_I	P12236	ADT3_HUMAN			2	1313	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)						Q96C49	Splice_Site	SNP	ENST00000381401.5	37		CCDS14114.1	.	.	.	.	.	.	.	.	.	.	.	6.611	0.481076	0.12581	.	.	ENSG00000169100	ENST00000381401	.	.	.	1.7	1.7	0.24286	.	.	.	.	.	.	.	.	.	.	.	0.20403	N	0.999903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7314	0.51739	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC25A6	1468133	1.000000	0.71417	0.058000	0.19502	0.092000	0.18411	5.896000	0.69822	0.888000	0.36160	0.402000	0.26972	.		0.627	SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055596.1	NM_001636	Intron	3	47	1	0	0.004672	1	0.00494682	3	47				
MYH7	4625	broad.mit.edu	37	14	23888716	23888716	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr14:23888716G>A	ENST00000355349.3	-	28	3991	c.3829C>T	c.(3829-3831)Cgg>Tgg	p.R1277W	MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1277					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		AACTTGGCCCGCTGGCTGGTG	0.602																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(3829-3831)Cgg>Tgg		myosin, heavy chain 7, cardiac muscle, beta							105.0	94.0	98.0					14																	23888716		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23888716G>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.3829C>T	14.37:g.23888716G>A	ENSP00000347507:p.Arg1277Trp		Somatic					p.R1277W	NM_000257.2	NP_000248.2	WXS	Illumina GAIIx	Phase_I	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	28	3991	-	all_cancers(95;2.54e-05)		1277					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.3829C>T	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091150	0.76756	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	T	0.79749	-1.3	4.99	4.03	0.46877	Myosin tail (1);	.	.	.	.	D	0.90328	0.6974	M	0.88450	2.955	0.46167	D	0.998903	D	0.71674	0.998	D	0.69654	0.965	D	0.92093	0.5682	9	0.87932	D	0	.	15.3347	0.74241	0.0:0.0:0.8136:0.1863	.	1277	P12883	MYH7_HUMAN	W	1277;1282	ENSP00000347507:R1277W	ENSP00000347507:R1277W	R	-	1	2	MYH7	22958556	0.950000	0.32346	1.000000	0.80357	0.998000	0.95712	0.789000	0.26886	2.602000	0.87976	0.655000	0.94253	CGG		0.602	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		4	115	0	0	0	1	0	4	115				
PSG1	5669	broad.mit.edu	37	19	43382400	43382400	+	Missense_Mutation	SNP	G	G	A	rs200054291		TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr19:43382400G>A	ENST00000436291.2	-	2	211	c.95C>T	c.(94-96)aCc>aTc	p.T32I	PSG1_ENST00000403380.3_Missense_Mutation_p.T32I|PSG1_ENST00000595124.1_Missense_Mutation_p.T32I|PSG1_ENST00000312439.6_Missense_Mutation_p.T32I|PSG1_ENST00000244296.2_Missense_Mutation_p.T32I|PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000595356.1_Missense_Mutation_p.T32I	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	32					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				TTGGGCAGTGGTGGGCAGGTT	0.488																																						ENST00000244296.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						c.(94-96)aCc>aTc		pregnancy specific beta-1-glycoprotein 1							141.0	153.0	149.0					19																	43382400		2203	4299	6502	SO:0001583	missense	0							g.chr19:43382400G>A		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.95C>T	19.37:g.43382400G>A	ENSP00000413041:p.Thr32Ile		Somatic				PSG1_ENST00000436291.2_Missense_Mutation_p.T32I|PSG1_ENST00000595356.1_Missense_Mutation_p.T32I|PSG1_ENST00000312439.6_Missense_Mutation_p.T32I|PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000403380.3_Missense_Mutation_p.T32I|PSG1_ENST00000595124.1_Missense_Mutation_p.T32I	p.T32I	NM_006905.2	NP_008836.2	WXS	Illumina GAIIx	Phase_I					2	232	-		Prostate(69;0.00682)						O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Missense_Mutation	SNP	ENST00000436291.2	37	c.95C>T	CCDS54275.1	.	.	.	.	.	.	.	.	.	.	N	5.996	0.367739	0.11352	.	.	ENSG00000231924	ENST00000270059;ENST00000436291;ENST00000403380;ENST00000312439;ENST00000244296	T;T;T;T	0.39592	1.08;5.64;1.07;1.11	1.64	-0.684	0.11331	.	.	.	.	.	T	0.44582	0.1300	M	0.67397	2.05	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.32507	0.329;0.052;0.047;0.024;0.09;0.106;0.373;0.026;0.071	B;B;B;B;B;B;B;B;B	0.43575	0.248;0.093;0.067;0.049;0.037;0.16;0.424;0.025;0.106	T	0.51616	-0.8683	9	0.66056	D	0.02	.	4.1776	0.10360	0.4059:0.0:0.5941:0.0	.	32;32;32;32;32;32;32;32;32	O75238;P11464-4;G5E9F7;P11464;Q8NBY8;P11464-3;Q9UPK8;O75237;P11464-2	.;.;.;PSG1_HUMAN;.;.;.;.;.	I	32	ENSP00000413041:T32I;ENSP00000385386:T32I;ENSP00000308970:T32I;ENSP00000244296:T32I	ENSP00000244296:T32I	T	-	2	0	PSG1	48074240	0.021000	0.18746	0.006000	0.13384	0.002000	0.02628	-0.520000	0.06252	-0.084000	0.12595	-1.207000	0.01640	ACC		0.488	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1			110	74	0	0	0	1	0	110	74				
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4				Dom	yes		9	9q21	2776	Mis	"""guanine nucleotide binding protein (G protein), q polypeptide"""			E			uveal melanoma		153	Substitution - Missense(153)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa		guanine nucleotide binding protein (G protein), q polypeptide							108.0	105.0	106.0					9																	80409488		2203	4300	6503	SO:0001583	missense	2776				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G		CCDS6658.1	9q21	2010-03-17			ENSG00000156052	ENSG00000156052			4390	protein-coding gene	gene with protein product		600998				8825633	Standard	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	P50148	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		Somatic				GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	WXS	Illumina GAIIx	Phase_I	P50148	GNAQ_HUMAN			5	848	-			209					O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	GNAQ	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1	NM_002072		33	35	0	0	0	1	0	33	35				
IQSEC3	440073	broad.mit.edu	37	12	266746	266746	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr12:266746G>A	ENST00000538872.1	+	7	2447	c.2329G>A	c.(2329-2331)Gac>Aac	p.D777N	IQSEC3_ENST00000326261.4_Missense_Mutation_p.D777N|IQSEC3_ENST00000382841.2_Missense_Mutation_p.D474N			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	777	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CCACAACCCCGACACCATCTT	0.597																																						ENST00000538872.1																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2329-2331)Gac>Aac		IQ motif and Sec7 domain 3							314.0	214.0	248.0					12																	266746		2203	4300	6503	SO:0001583	missense	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:266746G>A	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.2329G>A	12.37:g.266746G>A	ENSP00000437554:p.Asp777Asn		Somatic				IQSEC3_ENST00000326261.4_Missense_Mutation_p.D777N|IQSEC3_ENST00000382841.2_Missense_Mutation_p.D474N	p.D777N			WXS	Illumina GAIIx	Phase_I	Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	7	2447	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		777			SEC7.		A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	ENST00000538872.1	37	c.2329G>A	CCDS53728.1	.	.	.	.	.	.	.	.	.	.	G	33	5.215596	0.95104	.	.	ENSG00000120645	ENST00000538872;ENST00000326261;ENST00000382841	D;D;D	0.82619	-1.63;-1.63;-1.63	4.51	4.51	0.55191	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.044756	0.85682	D	0.000000	D	0.92922	0.7748	M	0.91406	3.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.94723	0.7902	10	0.87932	D	0	.	17.5649	0.87917	0.0:0.0:1.0:0.0	.	777;474	Q9UPP2;Q9UPP2-2	IQEC3_HUMAN;.	N	777;777;474	ENSP00000437554:D777N;ENSP00000315662:D777N;ENSP00000372292:D474N	ENSP00000315662:D777N	D	+	1	0	IQSEC3	137007	1.000000	0.71417	0.965000	0.40720	0.908000	0.53690	9.805000	0.99149	2.233000	0.73108	0.491000	0.48974	GAC		0.597	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		36	59	0	0	0	1	0	36	59				
ZNF281	23528	broad.mit.edu	37	1	200377456	200377456	+	Missense_Mutation	SNP	T	T	C			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr1:200377456T>C	ENST00000294740.3	-	2	1502	c.1378A>G	c.(1378-1380)Aag>Gag	p.K460E	ZNF281_ENST00000367353.1_Missense_Mutation_p.K460E|ZNF281_ENST00000367352.3_Missense_Mutation_p.K424E	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	460					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						GGCACCCTCTTCTGCAGTTCA	0.378																																						ENST00000294740.3																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(1378-1380)Aag>Gag		zinc finger protein 281							117.0	111.0	113.0					1																	200377456		2203	4300	6503	SO:0001583	missense	23528				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200377456T>C	AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"""Zinc fingers, C2H2-type"""	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.1378A>G	1.37:g.200377456T>C	ENSP00000294740:p.Lys460Glu		Somatic				ZNF281_ENST00000367353.1_Missense_Mutation_p.K460E|ZNF281_ENST00000367352.3_Missense_Mutation_p.K424E	p.K460E	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	WXS	Illumina GAIIx	Phase_I	Q9Y2X9	ZN281_HUMAN			2	1502	-								A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	ENST00000294740.3	37	c.1378A>G	CCDS1402.1	.	.	.	.	.	.	.	.	.	.	T	14.66	2.602047	0.46423	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352;ENST00000537759	T;T;T	0.07567	3.19;3.19;3.18	5.7	5.7	0.88788	.	0.271893	0.34338	N	0.004057	T	0.10637	0.0260	L	0.44542	1.39	0.34157	D	0.66818	D;D	0.58268	0.982;0.982	P;P	0.51777	0.679;0.679	T	0.03000	-1.1084	10	0.05525	T	0.97	-8.5188	10.3232	0.43777	0.0:0.0732:0.0:0.9268	.	424;460	A6NF48;Q9Y2X9	.;ZN281_HUMAN	E	460;460;424;165	ENSP00000294740:K460E;ENSP00000356322:K460E;ENSP00000356321:K424E	ENSP00000294740:K460E	K	-	1	0	ZNF281	198644079	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.414000	0.52693	2.153000	0.67306	0.533000	0.62120	AAG		0.378	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2	NM_012482		25	31	0	0	0	1	0	25	31				
NCAN	1463	broad.mit.edu	37	19	19349148	19349148	+	Nonsense_Mutation	SNP	G	G	T			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr19:19349148G>T	ENST00000252575.6	+	11	3436	c.3337G>T	c.(3337-3339)Gag>Tag	p.E1113*	NCAN_ENST00000538881.1_Nonsense_Mutation_p.E564*	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1113	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	GGAAGATGCCGAGAAGGACTG	0.632																																						ENST00000252575.6																			0				breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(3337-3339)Gag>Tag		neurocan							45.0	52.0	50.0					19																	19349148		2203	4300	6503	SO:0001587	stop_gained	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19349148G>T	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.3337G>T	19.37:g.19349148G>T	ENSP00000252575:p.Glu1113*		Somatic				NCAN_ENST00000538881.1_Nonsense_Mutation_p.E564*	p.E1113*	NM_004386.2	NP_004377.2	WXS	Illumina GAIIx	Phase_I	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		11	3436	+						C-type lectin.		Q9UPK6	Nonsense_Mutation	SNP	ENST00000252575.6	37	c.3337G>T	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	G	39	7.464936	0.98299	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	.	.	.	4.75	4.75	0.60458	.	0.220233	0.23912	N	0.043340	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.3064	0.73995	0.0:0.0:1.0:0.0	.	.	.	.	X	1127;1113;564	.	ENSP00000252575:E1113X	E	+	1	0	NCAN	19210148	1.000000	0.71417	0.971000	0.41717	0.938000	0.57974	9.506000	0.97992	2.464000	0.83262	0.561000	0.74099	GAG		0.632	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		3	52	1	0	1	1	1	3	52				
SMG7	9887	broad.mit.edu	37	1	183502394	183502394	+	Missense_Mutation	SNP	T	T	G			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr1:183502394T>G	ENST00000347615.2	+	9	1058	c.939T>G	c.(937-939)aaT>aaG	p.N313K	SMG7_ENST00000507469.1_Missense_Mutation_p.N313K|SMG7_ENST00000456731.2_Missense_Mutation_p.N271K|SMG7_ENST00000508461.1_Missense_Mutation_p.N271K|SMG7_ENST00000515829.2_Missense_Mutation_p.N313K|SMG7_ENST00000367537.3_Missense_Mutation_p.N342K	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	313					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						ACTTTAGCAATGAAACCGAGC	0.418																																						ENST00000367537.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1024-1026)aaT>aaG		SMG7 nonsense mediated mRNA decay factor							226.0	209.0	215.0					1																	183502394		2203	4300	6503	SO:0001583	missense	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183502394T>G	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.939T>G	1.37:g.183502394T>G	ENSP00000340766:p.Asn313Lys		Somatic				SMG7_ENST00000508461.1_Missense_Mutation_p.N271K|SMG7_ENST00000507469.1_Missense_Mutation_p.N313K|SMG7_ENST00000515829.2_Missense_Mutation_p.N313K|SMG7_ENST00000347615.2_Missense_Mutation_p.N313K|SMG7_ENST00000456731.2_Missense_Mutation_p.N271K	p.N342K			WXS	Illumina GAIIx	Phase_I	Q92540	SMG7_HUMAN			10	1221	+			313					B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	37	c.1026T>G	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	T	3.627	-0.076412	0.07184	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33;2.33;2.33	5.81	0.93	0.19454	.	0.238105	0.42821	D	0.000644	T	0.08891	0.0220	N	0.19112	0.55	0.49687	D	0.999814	B;B;B;B;B;B	0.24317	0.101;0.002;0.001;0.002;0.007;0.005	B;B;B;B;B;B	0.22152	0.038;0.01;0.004;0.006;0.013;0.016	T	0.28396	-1.0045	10	0.08179	T	0.78	-5.7791	11.0757	0.48030	0.0:0.4007:0.0:0.5993	.	271;342;271;313;313;313	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	K	271;342;271;271;313;313;313	ENSP00000407629:N271K;ENSP00000356507:N342K;ENSP00000426915:N271K;ENSP00000388390:N271K;ENSP00000340766:N313K;ENSP00000425133:N313K;ENSP00000421358:N313K	ENSP00000340766:N313K	N	+	3	2	SMG7	181769017	0.845000	0.29573	0.996000	0.52242	0.963000	0.63663	-0.097000	0.11042	-0.080000	0.12685	0.533000	0.62120	AAT		0.418	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		5	195	0	0	0	1	0	5	195				
CYP2C8	1558	broad.mit.edu	37	10	96798695	96798695	+	Missense_Mutation	SNP	C	C	T	rs141209951	byFrequency	TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr10:96798695C>T	ENST00000371270.3	-	8	1344	c.1250G>A	c.(1249-1251)gGc>gAc	p.G417D	CYP2C8_ENST00000535898.1_Missense_Mutation_p.G315D	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	417					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)	CTTAAAGTTGCCATTCTTATC	0.368																																						ENST00000371270.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21						c.(1249-1251)gGc>gAc		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)						116.0	108.0	111.0					10																	96798695		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.chr10:96798695C>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.1250G>A	10.37:g.96798695C>T	ENSP00000360317:p.Gly417Asp		Somatic				CYP2C8_ENST00000535898.1_Missense_Mutation_p.G315D	p.G417D	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	WXS	Illumina GAIIx	Phase_I	P10632	CP2C8_HUMAN		all cancers(201;6.21e-05)	8	1344	-		Colorectal(252;0.0397)	417					A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	Missense_Mutation	SNP	ENST00000371270.3	37	c.1250G>A	CCDS7438.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.501172	0.44455	.	.	ENSG00000138115	ENST00000371270;ENST00000535868;ENST00000535898	T;T	0.71341	-0.56;-0.56	4.09	3.19	0.36642	.	0.070459	0.56097	U	0.000029	D	0.84266	0.5434	M	0.90082	3.085	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.997	D;D;D	0.71870	0.957;0.975;0.957	D	0.85721	0.1325	10	0.87932	D	0	.	9.7771	0.40626	0.0:0.8959:0.0:0.1041	.	315;385;417	B7Z1F6;B7Z8S1;P10632	.;.;CP2C8_HUMAN	D	417;384;315	ENSP00000360317:G417D;ENSP00000445062:G315D	ENSP00000360317:G417D	G	-	2	0	CYP2C8	96788685	0.995000	0.38212	0.555000	0.28281	0.234000	0.25298	3.404000	0.52623	1.067000	0.40740	0.591000	0.81541	GGC		0.368	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049499.2	NM_000770		4	63	0	0	0	1	0	4	63				
LMOD3	56203	broad.mit.edu	37	3	69168367	69168367	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr3:69168367G>A	ENST00000420581.2	-	2	1318	c.1139C>T	c.(1138-1140)cCg>cTg	p.P380L	LMOD3_ENST00000475434.1_Missense_Mutation_p.P380L|LMOD3_ENST00000489031.1_Missense_Mutation_p.P380L	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	380						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		TCTGGGACCCGGAAGCTCAAA	0.473																																						ENST00000420581.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13						c.(1138-1140)cCg>cTg		leiomodin 3 (fetal)							112.0	107.0	109.0					3																	69168367		1902	4116	6018	SO:0001583	missense	56203					cytoplasm|cytoskeleton	tropomyosin binding	g.chr3:69168367G>A	AK096900	CCDS46862.1	3p14.1	2003-03-07			ENSG00000163380	ENSG00000163380			6649	protein-coding gene	gene with protein product							Standard	NM_198271		Approved		uc003dns.2	Q0VAK6	OTTHUMG00000158774	ENST00000420581.2:c.1139C>T	3.37:g.69168367G>A	ENSP00000414670:p.Pro380Leu		Somatic				LMOD3_ENST00000475434.1_Missense_Mutation_p.P380L|LMOD3_ENST00000489031.1_Missense_Mutation_p.P380L	p.P380L	NM_198271.3	NP_938012.2	WXS	Illumina GAIIx	Phase_I	Q0VAK6	LMOD3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)	2	1318	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	380					B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	Missense_Mutation	SNP	ENST00000420581.2	37	c.1139C>T	CCDS46862.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826465	0.71143	.	.	ENSG00000163380	ENST00000420581;ENST00000489031;ENST00000475434	D;D;D	0.92699	-3.09;-3.09;-3.09	5.84	5.84	0.93424	.	0.049022	0.85682	D	0.000000	D	0.95050	0.8397	L	0.60455	1.87	0.80722	D	1	D	0.76494	0.999	D	0.63381	0.914	D	0.94874	0.8033	10	0.72032	D	0.01	-15.7896	20.1466	0.98079	0.0:0.0:1.0:0.0	.	380	Q0VAK6	LMOD3_HUMAN	L	380	ENSP00000414670:P380L;ENSP00000417210:P380L;ENSP00000418645:P380L	ENSP00000414670:P380L	P	-	2	0	LMOD3	69251057	1.000000	0.71417	0.507000	0.27676	0.890000	0.51754	7.876000	0.87215	2.779000	0.95612	0.591000	0.81541	CCG		0.473	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352138.1	XM_067529		8	69	0	0	0	1	0	8	69				
FLNA	2316	broad.mit.edu	37	X	153596438	153596438	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chrX:153596438C>T	ENST00000369850.3	-	3	630	c.394G>A	c.(394-396)Ggg>Agg	p.G132R	FLNA_ENST00000360319.4_Missense_Mutation_p.G132R|FLNA_ENST00000422373.1_Missense_Mutation_p.G132R|FLNA_ENST00000344736.4_Missense_Mutation_p.G132R	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	132	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)	p.G132W(1)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTCAGGTTCCCGTCCACGATG	0.622																																						ENST00000422373.1																			1	Substitution - Missense(1)	p.G132W(1)	lung(1)	breast(6)	6						c.(394-396)Ggg>Agg		filamin A, alpha							122.0	129.0	127.0					X																	153596438		2185	4279	6464	SO:0001583	missense	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153596438C>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.394G>A	X.37:g.153596438C>T	ENSP00000358866:p.Gly132Arg		Somatic				FLNA_ENST00000369850.3_Missense_Mutation_p.G132R|FLNA_ENST00000360319.4_Missense_Mutation_p.G132R|FLNA_ENST00000344736.4_Missense_Mutation_p.G132R	p.G132R	NM_001456.3	NP_001447.2	WXS	Illumina GAIIx	Phase_I	P21333	FLNA_HUMAN			3	642	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		132			Actin-binding.|CH 1.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.394G>A	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.229786	0.58777	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.97906	-4.6;-4.6;-4.6;-4.6	5.08	5.08	0.68730	Actinin-type, actin-binding, conserved site (1);Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.98595	0.9530	M	0.77406	2.37	0.80722	D	1	D;D	0.76494	0.997;0.999	P;D	0.72338	0.888;0.977	D	0.99865	1.1088	10	0.87932	D	0	.	17.6513	0.88164	0.0:1.0:0.0:0.0	.	132;132	P21333-2;P21333	.;FLNA_HUMAN	R	132;105;132;132;132	ENSP00000353467:G132R;ENSP00000416926:G132R;ENSP00000358866:G132R;ENSP00000358863:G132R	ENSP00000358863:G132R	G	-	1	0	FLNA	153249632	1.000000	0.71417	0.985000	0.45067	0.957000	0.61999	7.809000	0.86057	2.097000	0.63578	0.509000	0.49947	GGG		0.622	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			62	4	0	0	0	1	0	62	4				
ZSCAN10	84891	broad.mit.edu	37	16	3140133	3140133	+	Silent	SNP	G	G	A	rs371075023		TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr16:3140133G>A	ENST00000252463.2	-	5	1224	c.1137C>T	c.(1135-1137)tgC>tgT	p.C379C	ZSCAN10_ENST00000575108.1_Silent_p.C40C|ZSCAN10_ENST00000538082.2_Silent_p.C297C	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	379					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CGCACTCTGCGCACAGGAAGG	0.711																																						ENST00000252463.2																			0				breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						c.(1135-1137)tgC>tgT		zinc finger and SCAN domain containing 10		G		0,4190		0,0,2095	19.0	25.0	23.0		1137	-2.9	0.9	16		23	1,8115		0,1,4057	no	coding-synonymous	ZSCAN10	NM_032805.1		0,1,6152	AA,AG,GG		0.0123,0.0,0.0081		379/726	3140133	1,12305	2095	4058	6153	SO:0001819	synonymous_variant	84891				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3140133G>A	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"""-"", ""Zinc fingers, C2H2-type"""	12997	protein-coding gene	gene with protein product			"""zinc finger protein 206"""	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.1137C>T	16.37:g.3140133G>A			Somatic				ZSCAN10_ENST00000575108.1_Silent_p.C40C|ZSCAN10_ENST00000538082.2_Silent_p.C297C	p.C379C	NM_032805.1	NP_116194.1	WXS	Illumina GAIIx	Phase_I	Q96SZ4	ZSC10_HUMAN			5	1224	-			379					B3KQD3|H0YFS6|Q1WWM2	Silent	SNP	ENST00000252463.2	37	c.1137C>T	CCDS10493.1																																																																																				0.711	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	NM_032805		3	64	0	0	0	1	0	3	64				
HIAT1	64645	broad.mit.edu	37	1	100503800	100503802	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr1:100503800_100503802delGAA	ENST00000370152.3	+	1	148_150	c.12_14delGAA	c.(10-15)gggaag>ggg	p.K8del	RP4-714D9.5_ENST00000564623.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	8	Poly-Lys.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TGACCCAGGGGAAGAAGAAGAAA	0.635																																						ENST00000370152.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						c.(10-15)gggaag>ggg		hippocampus abundant transcript 1				19,4167		5,9,2079						2.9	1.0			62	43,8053		16,11,4021	no	coding	HIAT1	NM_033055.2		21,20,6100	A1A1,A1R,RR		0.5311,0.4539,0.5048				62,12220				SO:0001651	inframe_deletion	64645				transmembrane transport	integral to membrane|plasma membrane	transporter activity	g.chr1:100503800_100503802delGAA	AK096669	CCDS763.1	1p21.3	2008-02-05			ENSG00000156875	ENSG00000156875			23363	protein-coding gene	gene with protein product						9299464	Standard	NM_033055		Approved	DKFZP564L0864	uc001dst.3	Q96MC6	OTTHUMG00000010755	ENST00000370152.3:c.12_14delGAA	1.37:g.100503809_100503811delGAA	ENSP00000359171:p.Lys8del		Somatic					p.K8del	NM_033055.2	NP_149044.2	WXS	Illumina GAIIx	Phase_I	Q96MC6	HIAT1_HUMAN		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)	1	148_150	+		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	8			Poly-Lys.		Q6P2N7|Q8N8K2|Q8NBV3|Q96NY0|Q9NT25	In_Frame_Del	DEL	ENST00000370152.3	37	c.12_14delGAA	CCDS763.1																																																																																				0.635	HIAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029657.1	NM_033055		2	4						2	4	---	---	---	---
H3F3AP4	440926	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000442996.1																			0																																																			0							g.chr2:175585079delA																													2.37:g.175585079delA			Somatic	OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1924					WXS	Illumina GAIIx	Phase_I					0	217	+									RNA	DEL	ENST00000442996.1	37																																																																																						0.368	AC018890.6-002	KNOWN	basic	antisense	antisense	OTTHUMT00000334128.1			4	5						4	5	---	---	---	---
LOC101927237	101927237	broad.mit.edu	37	4	68311853	68311855	+	lincRNA	DEL	GAG	GAG	-			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr4:68311853_68311855delGAG	ENST00000502400.1	-	0	34																											TCTCTATGGCGAGGAGGAGGAGG	0.547																																						ENST00000502400.1																			0																																																			0							g.chr4:68311853_68311855delGAG																													4.37:g.68311862_68311864delGAG			Somatic								WXS	Illumina GAIIx	Phase_I					0	34	-									RNA	DEL	ENST00000502400.1	37																																																																																						0.547	RP11-584P21.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000361926.2			3	3						3	3	---	---	---	---
TRBV29-1	28558	broad.mit.edu	37	7	142448200	142448207	+	RNA	DEL	GGTGGAAA	GGTGGAAA	-	rs56831387|rs112413030|rs76614416	byFrequency	TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr7:142448200_142448207delGGTGGAAA	ENST00000422143.2	+	0	101									T cell receptor beta variable 29-1																		GTTAACACTGGGTGGAAAGGTGGAAAGA	0.457														1983	0.395966	0.3812	0.5187	5008	,	,		21381	0.2222		0.5974	False		,,,				2504	0.3006					ENST00000422143.2																			0																	1374,2160		346,682,739						1.6	0.0		dbSNP_129	48	4141,3571		1278,1585,993	no	intergenic				1624,2267,1732	A1A1,A1R,RR		46.3045,38.8795,49.0397				5515,5731						0							g.chr7:142448200_142448207delGGTGGAAA	L36092		7q34	2012-02-07			ENSG00000232869	ENSG00000232869		"""T cell receptors / TRB locus"""	12210	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV291, TCRBV29S1, TCRBV4S1A1T			OTTHUMG00000158898		7.37:g.142448208_142448215delGGTGGAAA			Somatic								WXS	Illumina GAIIx	Phase_I					0	101	+									RNA	DEL	ENST00000422143.2	37																																																																																						0.457	TRBV29-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352510.1	NG_001333		3	6						3	6	---	---	---	---
HERC2P2	400322	broad.mit.edu	37	15	23333802	23333802	+	RNA	DEL	A	A	-			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr15:23333802delA	ENST00000560464.1	-	0	908									hect domain and RLD 2 pseudogene 2																		CTTACAGTTCAAAAAAAAAAA	0.443																																						ENST00000560464.1																			0																																																			0							g.chr15:23333802delA	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23333802delA			Somatic								WXS	Illumina GAIIx	Phase_I					0	908	-									RNA	DEL	ENST00000560464.1	37																																																																																						0.443	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			3	4						3	4	---	---	---	---
RP11-143J24.1	0	broad.mit.edu	37	15	30298072	30298072	+	lincRNA	DEL	T	T	-			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr15:30298072delT	ENST00000561392.1	-	0	138																											AATTAATTTGTTTTTTTTCCT	0.299																																						ENST00000561392.1																			0																																																			0							g.chr15:30298072delT																													15.37:g.30298072delT			Somatic								WXS	Illumina GAIIx	Phase_I					0	138	-									RNA	DEL	ENST00000561392.1	37																																																																																						0.299	RP11-143J24.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000417288.1			2	4						2	4	---	---	---	---
