#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
PRSS50	29122	broad.mit.edu	37	3	46784402	46784402	+	Intron	SNP	C	C	T	rs556551810		TCGA-EL-A4K1-01A-11D-A257-08	TCGA-EL-A4K1-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad7e48d-ad2d-4b88-841b-8dcf2ac88399	5d6424d3-35dc-4aa9-9490-d60a5fb0ee44	g.chr3:46784402C>T	ENST00000460241.1	-	4	1129				PRSS45_ENST00000442359.2_Splice_Site			Q9UI38	TSP50_HUMAN	protease, serine, 50						proteolysis (GO:0006508)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	serine-type endopeptidase activity (GO:0004252)|threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						CAGAAACTCACATAGCACAAG	0.582																																					Pancreas(41;915 1239 11561 17469)	ENST00000442359.2																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.e3+1		protease, serine, 45							57.0	58.0	57.0					3																	46784402		1958	4128	6086	SO:0001627	intron_variant	377047				proteolysis		serine-type endopeptidase activity	g.chr3:46784402C>T	AF100707	CCDS2745.1	3p21.31	2011-05-24			ENSG00000206549	ENSG00000206549		"""Serine peptidases / Serine peptidases"""	17910	protein-coding gene	gene with protein product	"""cancer/testis antigen 20"", ""testes specific protease 50"""	607950				10397268	Standard	NM_013270		Approved	TSP50, CT20	uc003cqe.1	Q9UI38	OTTHUMG00000164067	ENST00000460241.1:c.541+5712G>A	3.37:g.46784402C>T						PRSS50_ENST00000460241.1_Intron		NM_199183.2	NP_954652.2	Q7RTY3	PRS45_HUMAN			3	453	-									Splice_Site	SNP	ENST00000460241.1	37		CCDS2745.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.937802	0.52972	.	.	ENSG00000188086	ENST00000331814;ENST00000442359	.	.	.	4.72	4.72	0.59763	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2786	0.49181	0.0:0.8154:0.1846:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRSS45	46759406	1.000000	0.71417	0.942000	0.38095	0.797000	0.45037	3.681000	0.54648	2.623000	0.88846	0.655000	0.94253	.		0.582	PRSS50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354544.1			9	16	0	0	0	1	0	9	16				
ABO	28	broad.mit.edu	37	9	136131300	136131300	+	RNA	SNP	G	G	C			TCGA-EL-A4K1-01A-11D-A257-08	TCGA-EL-A4K1-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad7e48d-ad2d-4b88-841b-8dcf2ac88399	5d6424d3-35dc-4aa9-9490-d60a5fb0ee44	g.chr9:136131300G>C	ENST00000453660.2	-	0	828				RP11-430N14.4_ENST00000606717.1_RNA			P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation (GO:0006486)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosylgalactoside 3-alpha-galactosyltransferase activity (GO:0004381)|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity (GO:0004380)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		CTCTTGCACCGACCCCCCGAA	0.677																																						ENST00000453660.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11								ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)							27.0	30.0	29.0					9																	136131300		2022	4184	6206			28				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr9:136131300G>C	AF134415		9q34.2	2014-07-19			ENSG00000175164	ENSG00000175164	2.4.1.40, 2.4.1.37	"""Blood group antigens"", ""Glycosyltransferase family 6 domain containing"""	79	protein-coding gene	gene with protein product		110300				184030	Standard	NM_020469		Approved	A3GALNT, A3GALT1	uc004cda.1	P16442	OTTHUMG00000020872		9.37:g.136131300G>C										P16442	BGAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)	0	828	-								B0JDB9|O14758|Q14490|Q53I57|Q6ISD4|Q6KFZ2|Q70V27|Q99484|Q99485|Q9NY01|Q9UQ68|Q9UQ69	RNA	SNP	ENST00000453660.2	37																																																																																						0.677	ABO-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000054907.4	NM_020469		3	18	0	0	0	1	0	3	18				
ESPNP	284729	broad.mit.edu	37	1	17029257	17029257	+	RNA	SNP	T	T	C	rs12125112	byFrequency	TCGA-EL-A4K1-01A-11D-A257-08	TCGA-EL-A4K1-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad7e48d-ad2d-4b88-841b-8dcf2ac88399	5d6424d3-35dc-4aa9-9490-d60a5fb0ee44	g.chr1:17029257T>C	ENST00000492551.1	-	0	1108					NR_026567.1				espin pseudogene																		CATGTAGATGTCAGCTGCCTG	0.657													t|||	1129	0.225439	0.149	0.3372	5008	,	,		15683	0.1012		0.2326	False		,,,				2504	0.3701					ENST00000492551.1																			0																																																			0							g.chr1:17029257T>C	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17029257T>C								NR_026567.1						0	1108	-									RNA	SNP	ENST00000492551.1	37																																																																																						0.657	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			5	59	0	0	0	1	0	5	59				
ST5	6764	broad.mit.edu	37	11	8747678	8747678	+	Silent	SNP	G	G	A			TCGA-EL-A4K1-01A-11D-A257-08	TCGA-EL-A4K1-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad7e48d-ad2d-4b88-841b-8dcf2ac88399	5d6424d3-35dc-4aa9-9490-d60a5fb0ee44	g.chr11:8747678G>A	ENST00000534127.1	-	7	1804	c.1419C>T	c.(1417-1419)aaC>aaT	p.N473N	ST5_ENST00000313726.6_Silent_p.N473N|ST5_ENST00000530438.1_Silent_p.N53N|ST5_ENST00000357665.1_Silent_p.N473N|ST5_ENST00000526757.1_Silent_p.N53N	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	473					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		ACTTGGGTTGGTTCTCAGTAC	0.478																																						ENST00000534127.1																			0				NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(1417-1419)aaC>aaT		suppression of tumorigenicity 5							146.0	135.0	139.0					11																	8747678		2201	4296	6497	SO:0001819	synonymous_variant	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8747678G>A	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.1419C>T	11.37:g.8747678G>A						ST5_ENST00000526757.1_Silent_p.N53N|ST5_ENST00000530438.1_Silent_p.N53N|ST5_ENST00000357665.1_Silent_p.N473N|ST5_ENST00000313726.6_Silent_p.N473N	p.N473N	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	7	1804	-			473					B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Silent	SNP	ENST00000534127.1	37	c.1419C>T	CCDS7791.1																																																																																				0.478	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		12	94	0	0	0	1	0	12	94				
JMY	133746	broad.mit.edu	37	5	78610535	78610535	+	Missense_Mutation	SNP	T	T	G			TCGA-EL-A4K1-01A-11D-A257-08	TCGA-EL-A4K1-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad7e48d-ad2d-4b88-841b-8dcf2ac88399	5d6424d3-35dc-4aa9-9490-d60a5fb0ee44	g.chr5:78610535T>G	ENST00000396137.4	+	9	2982	c.2520T>G	c.(2518-2520)gaT>gaG	p.D840E	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	840					'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		TGGAGAAAGATCTGCCTAGAA	0.592																																						ENST00000396137.4																			0				endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16						c.(2518-2520)gaT>gaG		junction mediating and regulatory protein, p53 cofactor							36.0	37.0	37.0					5																	78610535		1969	4155	6124	SO:0001583	missense	133746				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	g.chr5:78610535T>G	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.2520T>G	5.37:g.78610535T>G	ENSP00000379441:p.Asp840Glu					JMY_ENST00000412001.1_Intron	p.D840E	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)	9	2982	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	840					A1L4P5|B5MDS2|B5MDT0	Missense_Mutation	SNP	ENST00000396137.4	37	c.2520T>G	CCDS4047.3	.	.	.	.	.	.	.	.	.	.	T	3.560	-0.089903	0.07053	.	.	ENSG00000152409	ENST00000282259;ENST00000396137	T	0.51574	0.7	4.91	-4.47	0.03525	.	0.439613	0.23830	N	0.044157	T	0.20820	0.0501	N	0.22421	0.69	0.09310	N	1	B	0.22211	0.066	B	0.24006	0.05	T	0.38178	-0.9673	10	0.02654	T	1	.	6.4382	0.21835	0.0:0.3031:0.3255:0.3715	.	840	Q8N9B5	JMY_HUMAN	E	829;840	ENSP00000379441:D840E	ENSP00000282259:D829E	D	+	3	2	JMY	78646291	0.009000	0.17119	0.015000	0.15790	0.913000	0.54294	-0.514000	0.06298	-0.365000	0.08076	0.528000	0.53228	GAT		0.592	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	NM_152405		4	40	0	0	0	1	0	4	40				
NBPF9	400818	broad.mit.edu	37	1	144823868	144823868	+	Missense_Mutation	SNP	T	T	G	rs61807127		TCGA-EL-A4K1-01A-11D-A257-08	TCGA-EL-A4K1-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad7e48d-ad2d-4b88-841b-8dcf2ac88399	5d6424d3-35dc-4aa9-9490-d60a5fb0ee44	g.chr1:144823868T>G	ENST00000281815.8	+	9	936	c.190T>G	c.(190-192)Tat>Gat	p.Y64D	NBPF9_ENST00000338347.4_Missense_Mutation_p.Y379D|NBPF9_ENST00000440491.2_Missense_Mutation_p.Y379D|NBPF9_ENST00000468645.1_3'UTR			Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	712						cytoplasm (GO:0005737)				NS(2)|prostate(1)	3						GGACTCACTGTATAGATGTTA	0.478																																						ENST00000440491.2																			0				NS(2)|prostate(1)	3						c.(1135-1137)Tat>Gat		neuroblastoma breakpoint family, member 9																																				SO:0001583	missense	400818							g.chr1:144823868T>G		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"""neuroblastoma breakpoint family"""	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000281815.8:c.190T>G	1.37:g.144823868T>G	ENSP00000281815:p.Tyr64Asp					NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Missense_Mutation_p.Y379D|NBPF9_ENST00000281815.8_Missense_Mutation_p.Y64D	p.Y379D	NM_001037675.2	NP_001032764.1					9	1135	+									Missense_Mutation	SNP	ENST00000281815.8	37	c.1135T>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0|0	-2.727028|-2.727028	0.00091|0.00091	.|.	.|.	ENSG00000168614|ENSG00000168614	ENST00000375552|ENST00000338347;ENST00000440491;ENST00000281815	.|T;T;T	.|0.03035	.|4.07;4.07;4.07	0.431|0.431	0.431|0.431	0.16523|0.16523	.|.	.|.	.|.	.|.	.|.	T|T	0.00356|0.00356	0.0011|0.0011	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.43814|0.43814	-0.9368|-0.9368	3|5	.|0.02654	.|T	.|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	W|D	377|379;379;64	.|ENSP00000342975:Y379D;ENSP00000390934:Y379D;ENSP00000281815:Y64D	.|ENSP00000281815:Y64D	C|Y	+|+	3|1	2|0	NBPF9|NBPF9	143535225|143535225	0.130000|0.130000	0.22417|0.22417	0.001000|0.001000	0.08648|0.08648	0.032000|0.032000	0.12392|0.12392	-0.055000|-0.055000	0.11807|0.11807	-0.397000|-0.397000	0.07691|0.07691	-1.044000|-1.044000	0.02363|0.02363	TGT|TAT		0.478	NBPF9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001037675		3	30	0	0	0	1	0	3	30				
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933		TCGA-EL-A4K1-01A-11D-A257-08	TCGA-EL-A4K1-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad7e48d-ad2d-4b88-841b-8dcf2ac88399	5d6424d3-35dc-4aa9-9490-d60a5fb0ee44	g.chr21:11058353T>C	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAATCTCTTTATAAAACCTT	0.343																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							20.0	18.0	19.0					21																	11058353		692	1589	2281			85319							g.chr21:11058353T>C	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058353T>C												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.343	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		5	71	0	0	0	1	0	5	71				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977359	29977359	+	RNA	SNP	G	G	A	rs367861986|rs3831361|rs370297731	byFrequency	TCGA-EL-A4K1-01A-11D-A257-08	TCGA-EL-A4K1-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad7e48d-ad2d-4b88-841b-8dcf2ac88399	5d6424d3-35dc-4aa9-9490-d60a5fb0ee44	g.chr6:29977359G>A	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		ATTTGTTCATGCCTTCCCTTT	0.453																																						ENST00000376797.3																			0																																																			0							g.chr6:29977359G>A	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977359G>A						HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.453	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		5	32	0	0	0	1	0	5	32				
SIRPB1	10326	broad.mit.edu	37	20	1585397	1585397	+	Intron	SNP	T	T	C	rs148754551	byFrequency	TCGA-EL-A4K1-01A-11D-A257-08	TCGA-EL-A4K1-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad7e48d-ad2d-4b88-841b-8dcf2ac88399	5d6424d3-35dc-4aa9-9490-d60a5fb0ee44	g.chr20:1585397T>C	ENST00000381605.4	-	1	141				SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000381596.1_5'Flank|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|SIRPB1_ENST00000279477.7_Missense_Mutation_p.T248A	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1						cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.T248A(5)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCTCGGATGGTCTCAGACAAG	0.627													t|||	2569	0.512979	0.6967	0.33	5008	,	,		3683	0.4435		0.4473	False		,,,				2504	0.5337					ENST00000279477.7																			5	Substitution - Missense(5)	p.T248A(5)	kidney(3)|prostate(2)	central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(742-744)Acc>Gcc		signal-regulatory protein beta 1							20.0	30.0	27.0					20																	1585397		375	895	1270	SO:0001627	intron_variant	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1585397T>C	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.76+15117A>G	20.37:g.1585397T>C						SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381605.4_Intron	p.T248A	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN			3	806	-			248					A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	c.742A>G	CCDS13019.1	757	0.3466117216117216	239	0.48577235772357724	97	0.26795580110497236	219	0.38286713286713286	202	0.26649076517150394	.	0.464	-0.887787	0.02511	.	.	ENSG00000101307	ENST00000279477	T	0.11930	2.73	2.24	-0.597	0.11653	.	.	.	.	.	T	0.00012	0.0000	N	0.20530	0.585	0.47778	P	4.809999999999537E-4	B	0.02656	0.0	B	0.06405	0.002	T	0.45483	-0.9258	8	0.13470	T	0.59	.	3.263	0.06855	0.2055:0.1485:0.0:0.646	.	248	Q5TFQ8	SIRBL_HUMAN	A	248	ENSP00000279477:T248A	ENSP00000279477:T248A	T	-	1	0	SIRPB1	1533397	0.001000	0.12720	0.631000	0.29282	0.161000	0.22273	-0.285000	0.08410	-0.814000	0.04352	-1.120000	0.02017	ACC		0.627	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		3	27	0	0	0	1	0	3	27				
CYC1	1537	broad.mit.edu	37	8	145150795	145150795	+	Silent	SNP	G	G	A	rs146030978		TCGA-EL-A4K1-01A-11D-A257-08	TCGA-EL-A4K1-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad7e48d-ad2d-4b88-841b-8dcf2ac88399	5d6424d3-35dc-4aa9-9490-d60a5fb0ee44	g.chr8:145150795G>A	ENST00000318911.4	+	2	262	c.189G>A	c.(187-189)gcG>gcA	p.A63A		NM_001916.3	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	63					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to glucagon (GO:0033762)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|respiratory chain (GO:0070469)	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity (GO:0045155)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGCTGTCAGCGCTGGGCATGC	0.662											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000318911.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15						c.(187-189)gcG>gcA		cytochrome c-1		G		2,4404	4.2+/-10.8	0,2,2201	69.0	70.0	70.0		189	2.0	1.0	8	dbSNP_134	70	0,8600		0,0,4300	no	coding-synonymous	CYC1	NM_001916.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		63/326	145150795	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	1537				respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding	g.chr8:145150795G>A	BC001006	CCDS6415.1	8q24	2011-07-04			ENSG00000179091	ENSG00000179091		"""Mitochondrial respiratory chain complex / Complex III"""	2579	protein-coding gene	gene with protein product		123980					Standard	NM_001916		Approved	UQCR4	uc003zaz.4	P08574	OTTHUMG00000165242	ENST00000318911.4:c.189G>A	8.37:g.145150795G>A			OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1692		p.A63A	NM_001916.3	NP_001907.2	P08574	CY1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	262	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		63					Q5U062|Q6FHS7	Silent	SNP	ENST00000318911.4	37	c.189G>A	CCDS6415.1																																																																																				0.662	CYC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382895.1	NM_001916		7	63	0	0	0	1	0	7	63				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977358	29977358	+	RNA	SNP	T	T	C			TCGA-EL-A4K1-01A-11D-A257-08	TCGA-EL-A4K1-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad7e48d-ad2d-4b88-841b-8dcf2ac88399	5d6424d3-35dc-4aa9-9490-d60a5fb0ee44	g.chr6:29977358T>C	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		GATTTGTTCATGCCTTCCCTT	0.448																																						ENST00000376797.3																			0																																																			0							g.chr6:29977358T>C	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977358T>C						HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.448	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		5	32	0	0	0	1	0	5	32				
TBC1D32	221322	broad.mit.edu	37	6	121544383	121544383	+	Splice_Site	SNP	A	A	G			TCGA-EL-A4K1-01A-11D-A257-08	TCGA-EL-A4K1-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad7e48d-ad2d-4b88-841b-8dcf2ac88399	5d6424d3-35dc-4aa9-9490-d60a5fb0ee44	g.chr6:121544383A>G	ENST00000398212.2	-	21	2529	c.2480T>C	c.(2479-2481)aTt>aCt	p.I827T	TBC1D32_ENST00000275159.6_Splice_Site_p.I827T|TBC1D32_ENST00000398197.2_5'UTR	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	827					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										ATGACTTACAATAACACATGT	0.299																																						ENST00000275159.6																			0											c.e21+1		TBC1 domain family, member 32							85.0	79.0	81.0					6																	121544383		1800	4078	5878	SO:0001630	splice_region_variant	221322							g.chr6:121544383A>G	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.2481+1T>C	6.37:g.121544383A>G						TBC1D32_ENST00000398212.2_Splice_Site_p.I827_splice|TBC1D32_ENST00000398197.2_5'UTR	p.I827_splice							21	2479	-								Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Splice_Site	SNP	ENST00000398212.2	37	c.2481_splice	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	A	8.206	0.799311	0.16397	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.21191	2.02;2.02	5.64	3.29	0.37713	.	0.441828	0.27164	N	0.020632	T	0.09379	0.0231	M	0.67953	2.075	0.34152	D	0.667675	B;B	0.06786	0.001;0.001	B;B	0.06405	0.001;0.002	T	0.03945	-1.0990	10	0.46703	T	0.11	.	7.1119	0.25395	0.8037:0.0:0.1963:0.0	.	827;827	Q96NH3-4;Q96NH3	.;BROMI_HUMAN	T	827	ENSP00000275159:I827T;ENSP00000381270:I827T	ENSP00000275159:I827T	I	-	2	0	C6orf170	121586082	0.993000	0.37304	0.187000	0.23214	0.991000	0.79684	1.588000	0.36633	0.508000	0.28173	0.533000	0.62120	ATT		0.299	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730	Missense_Mutation	23	32	0	0	0	1	0	23	32				
TRBC2	28638	broad.mit.edu	37	7	142499762	142499762	+	RNA	SNP	A	A	G	rs706	byFrequency	TCGA-EL-A4K1-01A-11D-A257-08	TCGA-EL-A4K1-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad7e48d-ad2d-4b88-841b-8dcf2ac88399	5d6424d3-35dc-4aa9-9490-d60a5fb0ee44	g.chr7:142499762A>G	ENST00000466254.1	+	0	405							A0A5B9	TRBC2_HUMAN	T cell receptor beta constant 2							integral component of membrane (GO:0016021)											GTGCACAGGTACCTACATGCT	0.542													A|||	1424	0.284345	0.3147	0.3084	5008	,	,		19544	0.1885		0.4414	False		,,,				2504	0.1636					ENST00000466254.1																			0															A		1236,2944		188,860,1042	152.0	156.0	155.0			-7.8	0.0	7	dbSNP_36	155	3378,5042		704,1970,1536	no	intergenic				892,2830,2578	GG,GA,AA		40.1188,29.5694,36.619			142499762	4614,7986	2090	4210	6300			0							g.chr7:142499762A>G	M12888		7q34	2012-02-08			ENSG00000211772	ENSG00000211772		"""T cell receptors / TRB locus"""	12157	other	T cell receptor gene		615445				3860845, 8951372	Standard	NG_001333		Approved	TCRBC2		A0A5B9	OTTHUMG00000158912		7.37:g.142499762A>G														0	405	+									RNA	SNP	ENST00000466254.1	37																																																																																						0.542	TRBC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000352524.2	NG_001333		5	117	0	0	0	1	0	5	117				
USP32P2	220594	broad.mit.edu	37	17	18416747	18416747	+	RNA	SNP	G	G	T	rs141915702	byFrequency	TCGA-EL-A4K1-01A-11D-A257-08	TCGA-EL-A4K1-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad7e48d-ad2d-4b88-841b-8dcf2ac88399	5d6424d3-35dc-4aa9-9490-d60a5fb0ee44	g.chr17:18416747G>T	ENST00000425211.1	-	0	2522				USP32P2_ENST00000412260.1_RNA																							GGCAGAGTCGGTGTCAATTTC	0.428													g|||	290	0.0579073	0.0166	0.0432	5008	,	,		13634	0.0298		0.1133	False		,,,				2504	0.0961					ENST00000425211.1																			0																																																			0							g.chr17:18416747G>T																													17.37:g.18416747G>T														0	2522	-									RNA	SNP	ENST00000425211.1	37																																																																																						0.428	CTD-2303H24.2-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473021.1			4	45	1	0	0.00909568	1	0.00940932	4	45				
CACNA1D	776	broad.mit.edu	37	3	53810919	53810919	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A4K1-01A-11D-A257-08	TCGA-EL-A4K1-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad7e48d-ad2d-4b88-841b-8dcf2ac88399	5d6424d3-35dc-4aa9-9490-d60a5fb0ee44	g.chr3:53810919T>A	ENST00000350061.5	+	37	5034	c.4523T>A	c.(4522-4524)cTg>cAg	p.L1508Q	CACNA1D_ENST00000288139.4_Missense_Mutation_p.L1528Q|CACNA1D_ENST00000540742.1_Missense_Mutation_p.L400Q|CACNA1D_ENST00000422281.2_Missense_Mutation_p.L1493Q	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1508					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GTGGTCACTCTGCTTCGACGC	0.527																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(4582-4584)cTg>cAg		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						141.0	118.0	126.0					3																	53810919		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53810919T>A	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.4523T>A	3.37:g.53810919T>A	ENSP00000288133:p.Leu1508Gln					CACNA1D_ENST00000350061.5_Missense_Mutation_p.L1508Q|CACNA1D_ENST00000422281.2_Missense_Mutation_p.L1493Q|CACNA1D_ENST00000540742.1_Missense_Mutation_p.L400Q	p.L1528Q	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	38	4701	+			1508					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.4583T>A	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.808185	0.90707	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000540742	D;D;D;T;T	0.98075	-4.65;-4.7;-4.68;2.79;2.79	5.43	5.43	0.79202	.	0.000000	0.56097	D	0.000035	D	0.98789	0.9592	M	0.87456	2.885	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;1.0	D;D;D;D;D	0.85130	0.993;0.979;0.993;0.984;0.997	D	0.99823	1.1048	10	0.87932	D	0	.	15.4778	0.75497	0.0:0.0:0.0:1.0	.	1493;400;1201;1508;1528	B0FYA3;F5H313;Q59GD8;Q01668;Q01668-2	.;.;.;CAC1D_HUMAN;.	Q	1508;1528;1493;1201;400	ENSP00000288133:L1508Q;ENSP00000288139:L1528Q;ENSP00000409174:L1493Q;ENSP00000418014:L1201Q;ENSP00000438229:L400Q	ENSP00000288139:L1528Q	L	+	2	0	CACNA1D	53785959	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.040000	0.89188	2.053000	0.61076	0.460000	0.39030	CTG		0.527	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		7	45	0	0	0	1	0	7	45				
ZNF28	7576	broad.mit.edu	37	19	53321259	53321259	+	De_novo_Start_OutOfFrame	SNP	G	G	A	rs112424230	byFrequency	TCGA-EL-A4K1-01A-11D-A257-08	TCGA-EL-A4K1-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad7e48d-ad2d-4b88-841b-8dcf2ac88399	5d6424d3-35dc-4aa9-9490-d60a5fb0ee44	g.chr19:53321259G>A	ENST00000457749.2	-	0	72				ZNF28_ENST00000464469.2_5'UTR|ZNF28_ENST00000414252.2_De_novo_Start_InFrame|ZNF28_ENST00000594602.1_De_novo_Start_OutOfFrame	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TCTTCCTCACGTACCAAGATT	0.428													G|||	274	0.0547125	0.1331	0.0504	5008	,	,		20481	0.004		0.0398	False		,,,				2504	0.0194					ENST00000457749.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34								zinc finger protein 28																																						7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53321259G>A	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.-48C>T	19.37:g.53321259G>A						ZNF28_ENST00000594602.1_De_novo_Start_OutOfFrame|ZNF28_ENST00000464469.2_5'UTR|ZNF28_ENST00000414252.2_De_novo_Start_InFrame		NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	0	72	-								A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Translation_Start_Site	SNP	ENST00000457749.2	37		CCDS33093.2																																																																																				0.428	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		4	70	0	0	0	1	0	4	70				
MT-CO1	4512	broad.mit.edu	37	M	3072	3072	+	5'Flank	SNP	T	T	C			TCGA-EL-A4K1-01A-11D-A257-08	TCGA-EL-A4K1-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad7e48d-ad2d-4b88-841b-8dcf2ac88399	5d6424d3-35dc-4aa9-9490-d60a5fb0ee44	g.chrM:3072T>C	ENST00000361624.2	+	0	0				MT-TV_ENST00000387342.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-ND2_ENST00000361453.3_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TF_ENST00000387314.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I						aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						CGTGATCTGAGTTCAGACCGG	0.468																																						ENST00000387347.2																			0																																																	SO:0001631	upstream_gene_variant	0							g.chrM:3072T>C			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395			M.37:g.3072T>C	Exception_encountered							NR_039705.1						0	1402	+								Q34770	RNA	SNP	ENST00000361624.2	37																																																																																						0.468	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024028		9	0	0	0	0	1	0	9	0				
KIAA1549L	25758	broad.mit.edu	37	11	33564403	33564403	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A4K1-01A-11D-A257-08	TCGA-EL-A4K1-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad7e48d-ad2d-4b88-841b-8dcf2ac88399	5d6424d3-35dc-4aa9-9490-d60a5fb0ee44	g.chr11:33564403A>G	ENST00000321505.4	+	1	583	c.403A>G	c.(403-405)Acc>Gcc	p.T135A	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.T135A|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.T135A			Q6ZVL6	K154L_HUMAN	KIAA1549-like	135						integral component of membrane (GO:0016021)											CATAGAAATGACCAGCAGAAA	0.522											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000321505.4																			0											c.(403-405)Acc>Gcc		KIAA1549-like							45.0	46.0	46.0					11																	33564403		1913	4114	6027	SO:0001583	missense	25758							g.chr11:33564403A>G	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.403A>G	11.37:g.33564403A>G	ENSP00000315295:p.Thr135Ala		OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	841	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.T135A|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.T135A	p.T135A							1	583	+								B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.403A>G	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	A	10.11	1.260939	0.23051	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654	.	.	.	5.53	1.9	0.25705	.	.	.	.	.	T	0.16128	0.0388	N	0.12182	0.205	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.10450	0.005;0.003	T	0.32268	-0.9913	8	0.09843	T	0.71	.	4.6743	0.12705	0.6699:0.1639:0.1662:0.0	.	135;135	E9PAT2;Q6ZVL6-2	.;.	A	135	.	ENSP00000265654:T135A	T	+	1	0	C11orf41	33520979	0.004000	0.15560	0.028000	0.17463	0.078000	0.17371	1.195000	0.32186	0.360000	0.24265	0.459000	0.35465	ACC		0.522	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		3	44	0	0	0	1	0	3	44				
UBE2U	148581	broad.mit.edu	37	1	64676469	64676469	+	Missense_Mutation	SNP	C	C	A	rs192044358		TCGA-EL-A4K1-01A-11D-A257-08	TCGA-EL-A4K1-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad7e48d-ad2d-4b88-841b-8dcf2ac88399	5d6424d3-35dc-4aa9-9490-d60a5fb0ee44	g.chr1:64676469C>A	ENST00000371076.3	+	4	530	c.286C>A	c.(286-288)Cct>Act	p.P96T		NM_152489.1	NP_689702.1	Q5VVX9	UBE2U_HUMAN	ubiquitin-conjugating enzyme E2U (putative)	96					protein ubiquitination (GO:0016567)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			large_intestine(3)|lung(2)|skin(1)	6						TTTGGACAACCCTGAGAAGTG	0.308																																						ENST00000371077.4																			0				large_intestine(3)|lung(2)|skin(1)	6						c.(286-288)Cct>Act		ubiquitin-conjugating enzyme E2U (putative)							84.0	79.0	81.0					1																	64676469		2203	4300	6503	SO:0001583	missense	148581						ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr1:64676469C>A	BC029895	CCDS627.1	1p31.3	2008-02-05			ENSG00000177414	ENSG00000177414		"""Ubiquitin-conjugating enzymes E2"""	28559	protein-coding gene	gene with protein product						12477932	Standard	NM_152489		Approved	MGC35130	uc001dbn.1	Q5VVX9	OTTHUMG00000009023	ENST00000371076.3:c.286C>A	1.37:g.64676469C>A	ENSP00000360116:p.Pro96Thr					UBE2U_ENST00000371076.3_Missense_Mutation_p.P96T	p.P96T			Q5VVX9	UBE2U_HUMAN			4	710	+			96					Q8N1D4	Missense_Mutation	SNP	ENST00000371076.3	37	c.286C>A	CCDS627.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	6.713	0.500165	0.12762	.	.	ENSG00000177414	ENST00000371077;ENST00000371076	T;T	0.35421	1.31;1.31	5.5	2.61	0.31194	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.354685	0.24532	N	0.037718	T	0.36826	0.0981	M	0.89785	3.06	0.09310	N	1	P	0.47253	0.892	P	0.52267	0.694	T	0.35773	-0.9775	10	0.87932	D	0	.	4.4081	0.11420	0.1799:0.6382:0.0:0.182	.	96	Q5VVX9	UBE2U_HUMAN	T	96	ENSP00000360117:P96T;ENSP00000360116:P96T	ENSP00000360116:P96T	P	+	1	0	UBE2U	64449057	0.000000	0.05858	0.023000	0.16930	0.033000	0.12548	0.451000	0.21779	0.685000	0.31468	0.561000	0.74099	CCT		0.308	UBE2U-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025005.1	NM_152489		3	41	1	0	0.115264	1	0.115264	3	41				
ATRX	546	broad.mit.edu	37	X	76875995	76875995	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A4K1-01A-11D-A257-08	TCGA-EL-A4K1-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad7e48d-ad2d-4b88-841b-8dcf2ac88399	5d6424d3-35dc-4aa9-9490-d60a5fb0ee44	g.chrX:76875995C>A	ENST00000373344.5	-	20	5354	c.5140G>T	c.(5140-5142)Gat>Tat	p.D1714Y	ATRX_ENST00000395603.3_Missense_Mutation_p.D1676Y|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1714	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ACAACAAAATCAGGGCCTACA	0.284			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(5140-5142)Gat>Tat		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						41.0	34.0	36.0					X																	76875995		2198	4292	6490	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76875995C>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5140G>T	X.37:g.76875995C>A	ENSP00000362441:p.Asp1714Tyr					ATRX_ENST00000395603.3_Missense_Mutation_p.D1676Y|ATRX_ENST00000480283.1_5'UTR	p.D1714Y	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			20	5354	-			1714			Helicase ATP-binding.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.5140G>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.473958	0.63737	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.93189	-3.18;-3.18	4.47	4.47	0.54385	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.97102	0.9053	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.98166	1.0449	10	0.87932	D	0	-8.1903	16.4458	0.83932	0.0:1.0:0.0:0.0	.	1676;1714	P46100-4;P46100	.;ATRX_HUMAN	Y	1714;1676	ENSP00000362441:D1714Y;ENSP00000378967:D1676Y	ENSP00000362441:D1714Y	D	-	1	0	ATRX	76762651	1.000000	0.71417	0.999000	0.59377	0.698000	0.40448	7.414000	0.80117	1.790000	0.52503	0.544000	0.68410	GAT		0.284	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		6	14	1	0	0.00116845	1	0.00129827	6	14				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A4K1-01A-11D-A257-08	TCGA-EL-A4K1-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad7e48d-ad2d-4b88-841b-8dcf2ac88399	5d6424d3-35dc-4aa9-9490-d60a5fb0ee44	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		46	45	0	0	0	1	0	46	45				
SDHAP1	255812	broad.mit.edu	37	3	195711343	195711344	+	RNA	INS	-	-	T	rs200252504	byFrequency	TCGA-EL-A4K1-01A-11D-A257-08	TCGA-EL-A4K1-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad7e48d-ad2d-4b88-841b-8dcf2ac88399	5d6424d3-35dc-4aa9-9490-d60a5fb0ee44	g.chr3:195711343_195711344insT	ENST00000427841.1	-	0	585					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		AAAGACTTCTCTGTGAGCTTTG	0.381													|||unknown(ALL_OTHER_Ns)	3992	0.797125	0.888	0.8112	5008	,	,		14038	0.8571		0.6809	False		,,,				2504	0.7219				Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195711343_195711344insT	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195711344_195711344dupT								NR_003264.2						0	585	-									RNA	INS	ENST00000427841.1	37																																																																																						0.381	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			3	3						3	3	---	---	---	---
CWH43	80157	broad.mit.edu	37	4	49063893	49063893	+	Frame_Shift_Del	DEL	A	A	-	rs376806787|rs538616012	byFrequency	TCGA-EL-A4K1-01A-11D-A257-08	TCGA-EL-A4K1-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad7e48d-ad2d-4b88-841b-8dcf2ac88399	5d6424d3-35dc-4aa9-9490-d60a5fb0ee44	g.chr4:49063893delA	ENST00000226432.4	+	16	2269	c.2086delA	c.(2086-2088)aaafs	p.K696fs	CWH43_ENST00000513409.1_Frame_Shift_Del_p.K669fs	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	696					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GAATACTCCCAAATACTTTTT	0.254													|||unknown(NO_COVERAGE)	14	0.00279553	0.0015	0.0	5008	,	,		15462	0.0		0.007	False		,,,				2504	0.0051					ENST00000226432.4																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(2086-2088)aafs		cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)				6,4212		0,6,2103	25.0	24.0	24.0			-0.2	1.0	4		25	69,8059		0,69,3995	no	frameshift	CWH43	NM_025087.2		0,75,6098	A1A1,A1R,RR		0.8489,0.1422,0.6075			49063893	75,12271	2182	4240	6422	SO:0001589	frameshift_variant	80157				GPI anchor biosynthetic process	integral to membrane		g.chr4:49063893delA		CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.2086delA	4.37:g.49063893delA	ENSP00000226432:p.Lys696fs					CWH43_ENST00000513409.1_Frame_Shift_Del_p.K669fs	p.K696fs	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN			16	2269	+			696					B2RPD7	Frame_Shift_Del	DEL	ENST00000226432.4	37	c.2086delA	CCDS3486.1																																																																																				0.254	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087		11	16						11	16	---	---	---	---
CTC-338M12.9	0	broad.mit.edu	37	5	180708658	180708658	+	lincRNA	DEL	A	A	-			TCGA-EL-A4K1-01A-11D-A257-08	TCGA-EL-A4K1-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad7e48d-ad2d-4b88-841b-8dcf2ac88399	5d6424d3-35dc-4aa9-9490-d60a5fb0ee44	g.chr5:180708658delA	ENST00000412295.2	+	0	238																											GAGCGGTAGGAGgggggctgg	0.711																																						ENST00000412295.2																			0																																																			0							g.chr5:180708658delA																													5.37:g.180708658delA														0	238	+									RNA	DEL	ENST00000412295.2	37																																																																																						0.711	CTC-338M12.9-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000372940.1			2	4						2	4	---	---	---	---
BHLHE22	27319	broad.mit.edu	37	8	65494021	65494023	+	In_Frame_Del	DEL	GCA	GCA	-	rs62519837		TCGA-EL-A4K1-01A-11D-A257-08	TCGA-EL-A4K1-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad7e48d-ad2d-4b88-841b-8dcf2ac88399	5d6424d3-35dc-4aa9-9490-d60a5fb0ee44	g.chr8:65494021_65494023delGCA	ENST00000321870.1	+	1	1208_1210	c.674_676delGCA	c.(673-678)ggcagc>ggc	p.S234del	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	234	Ser-rich.				anterior commissure morphogenesis (GO:0021960)|cerebral cortex regionalization (GO:0021796)|corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|retinal bipolar neuron differentiation (GO:0060040)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.S234delS(1)|p.S226G(1)		NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						ggcagcggcggcagcagcagcag	0.709																																					Colon(113;104 1586 2865 9855 18065)	ENST00000321870.1																			2	Substitution - Missense(1)|Deletion - In frame(1)	p.S234delS(1)|p.S226G(1)	central_nervous_system(1)|skin(1)	NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						c.(673-678)ggc>g		basic helix-loop-helix family, member e22																																				SO:0001651	inframe_deletion	27319				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr8:65494021_65494023delGCA	U80755	CCDS6179.1	8q12.1	2009-01-12	2009-01-12	2009-01-12		ENSG00000180828		"""Basic helix-loop-helix proteins"""	11963	protein-coding gene	gene with protein product		613483	"""trinucleotide repeat containing 20"", ""basic helix-loop-helix domain containing, class B, 5"""	TNRC20, BHLHB5		9225980, 12213201, 18557763	Standard	NM_152414		Approved	CAGL85, Beta3, bHLHe22	uc003xvi.3	Q8NFJ8		ENST00000321870.1:c.674_676delGCA	8.37:g.65494030_65494032delGCA	ENSP00000318799:p.Ser234del					RP11-21C4.1_ENST00000517909.1_RNA	p.GS225del	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN			1	1208_1210	+			225			Gly-rich.|Ser-rich.			In_Frame_Del	DEL	ENST00000321870.1	37	c.674_676delGCA	CCDS6179.1																																																																																				0.709	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378549.1	NM_152414		2	4						2	4	---	---	---	---
