#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
MGST1	4257	broad.mit.edu	37	12	16516841	16516841	+	Missense_Mutation	SNP	G	G	A	rs139915404		TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chr12:16516841G>A	ENST00000396209.1	+	4	477	c.334G>A	c.(334-336)Gga>Aga	p.G112R	MGST1_ENST00000540056.1_3'UTR|MGST1_ENST00000396210.3_Missense_Mutation_p.G112R|MGST1_ENST00000396207.1_Missense_Mutation_p.G112R|MGST1_ENST00000010404.2_Missense_Mutation_p.G112R|MGST1_ENST00000535309.1_Intron	NM_145791.2	NP_665734.1	P10620	MGST1_HUMAN	microsomal glutathione S-transferase 1	112					cellular response to lipid hydroperoxide (GO:0071449)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|Leydig cell differentiation (GO:0033327)|oxidation-reduction process (GO:0055114)|protein homotrimerization (GO:0070207)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	apical part of cell (GO:0045177)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	glutathione binding (GO:0043295)|glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9		Hepatocellular(102;0.121)			Glutathione(DB00143)	ACTATTTGTCGGAGCACGGAT	0.453																																						ENST00000396209.1																			0				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9						c.(334-336)Gga>Aga		microsomal glutathione S-transferase 1	Glutathione(DB00143)	G	ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY	2,4404	4.2+/-10.8	0,2,2201	214.0	195.0	201.0		334,334,334,334	4.4	1.0	12	dbSNP_134	201	0,8600		0,0,4300	no	missense,missense,missense,missense	MGST1	NM_020300.3,NM_145764.1,NM_145791.1,NM_145792.1	125,125,125,125	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign,benign,benign,benign	112/156,112/156,112/156,112/156	16516841	2,13004	2203	4300	6503	SO:0001583	missense	4257				protein homotrimerization|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	glutathione transferase activity	g.chr12:16516841G>A	U46494	CCDS8677.1, CCDS58209.1	12p12.3-p12.1	2012-06-21			ENSG00000008394	ENSG00000008394	2.5.1.18	"""Glutathione S-transferases / Microsomal"""	7061	protein-coding gene	gene with protein product		138330		GST12			Standard	NM_145792		Approved	MGST-I	uc031qgl.1	P10620	OTTHUMG00000168816	ENST00000396209.1:c.334G>A	12.37:g.16516841G>A	ENSP00000379512:p.Gly112Arg					MGST1_ENST00000396210.3_Missense_Mutation_p.G112R|MGST1_ENST00000535309.1_Intron|MGST1_ENST00000396207.1_Missense_Mutation_p.G112R|MGST1_ENST00000010404.2_Missense_Mutation_p.G112R|MGST1_ENST00000540056.1_3'UTR	p.G112R	NM_145791.2	NP_665734.1	P10620	MGST1_HUMAN			4	477	+		Hepatocellular(102;0.121)	112					A8K533|G5EA53	Missense_Mutation	SNP	ENST00000396209.1	37	c.334G>A	CCDS8677.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.205464	0.58234	4.54E-4	0.0	ENSG00000008394	ENST00000010404;ENST00000543076;ENST00000396210;ENST00000396209;ENST00000396207	T;T;T;T;T	0.59224	0.28;0.28;0.28;0.28;0.28	5.27	4.36	0.52297	Membrane associated eicosanoid/glutathione metabolism-like domain (1);	0.105167	0.64402	D	0.000004	T	0.56307	0.1976	M	0.77103	2.36	0.58432	D	0.999991	B	0.31193	0.312	B	0.27170	0.077	T	0.55798	-0.8084	10	0.25106	T	0.35	6.575	14.4572	0.67425	0.0722:0.0:0.9278:0.0	.	112	P10620	MGST1_HUMAN	R	112;76;112;112;112	ENSP00000010404:G112R;ENSP00000442767:G76R;ENSP00000379513:G112R;ENSP00000379512:G112R;ENSP00000379510:G112R	ENSP00000010404:G112R	G	+	1	0	MGST1	16408108	1.000000	0.71417	0.980000	0.43619	0.963000	0.63663	8.447000	0.90332	2.739000	0.93911	0.655000	0.94253	GGA		0.453	MGST1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401189.1	NM_145791		42	74	0	0	0	1	0	42	74				
KRTAP10-3	386682	broad.mit.edu	37	21	45978263	45978263	+	Silent	SNP	G	G	T			TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chr21:45978263G>T	ENST00000391620.1	-	1	380	c.336C>A	c.(334-336)ccC>ccA	p.P112P	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	112	18 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				kidney(1)|lung(4)|prostate(1)|skin(1)	7						tgcagcagacgggcacacagc	0.647																																						ENST00000391620.1																			0				kidney(1)|lung(4)|prostate(1)|skin(1)	7						c.(334-336)ccC>ccA		keratin associated protein 10-3							140.0	138.0	139.0					21																	45978263		2203	4300	6503	SO:0001819	synonymous_variant	386682					keratin filament		g.chr21:45978263G>T	AJ566383	CCDS42956.1	21q22.3	2007-10-05			ENSG00000212935	ENSG00000212935		"""Keratin associated proteins"""	22968	protein-coding gene	gene with protein product				KRTAP18-3			Standard	NM_198696		Approved	KAP10.3, KAP18.3	uc002zfj.1	P60369	OTTHUMG00000057628	ENST00000391620.1:c.336C>A	21.37:g.45978263G>T						TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	p.P112P	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN			1	380	-			112			18 X 5 AA repeats of C-C-X(3).		A3KN67|Q70LJ4	Silent	SNP	ENST00000391620.1	37	c.336C>A	CCDS42956.1																																																																																				0.647	KRTAP10-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128031.1			7	125	1	0	1.76689e-08	1	1.99736e-08	7	125				
DENND4A	10260	broad.mit.edu	37	15	65962141	65962141	+	Missense_Mutation	SNP	A	A	C			TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chr15:65962141A>C	ENST00000431932.2	-	26	4839	c.4631T>G	c.(4630-4632)gTt>gGt	p.V1544G	DENND4A_ENST00000443035.3_Missense_Mutation_p.V1587G	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1544					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						ATTCCCTTGAACAGAGAGAGC	0.338																																						ENST00000443035.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(4759-4761)gTt>gGt		DENN/MADD domain containing 4A							89.0	82.0	84.0					15																	65962141		1861	4108	5969	SO:0001583	missense	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:65962141A>C	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.4631T>G	15.37:g.65962141A>C	ENSP00000396830:p.Val1544Gly					DENND4A_ENST00000431932.2_Missense_Mutation_p.V1544G	p.V1587G	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN			27	4975	-			1544					E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	c.4760T>G	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	A	9.134	1.012126	0.19277	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.05199	3.48;3.48	5.64	3.31	0.37934	.	1.201840	0.05779	N	0.608229	T	0.06050	0.0157	L	0.44542	1.39	0.53005	D	0.999965	P;B	0.35077	0.483;0.146	B;B	0.27887	0.084;0.038	T	0.36138	-0.9760	10	0.23302	T	0.38	.	5.7442	0.18110	0.7105:0.1406:0.149:0.0	.	1587;1544	E7EPL3;Q7Z401	.;MYCPP_HUMAN	G	1587;1544	ENSP00000391167:V1587G;ENSP00000396830:V1544G	ENSP00000396830:V1544G	V	-	2	0	DENND4A	63749195	1.000000	0.71417	0.983000	0.44433	0.841000	0.47740	2.232000	0.43018	0.980000	0.38523	0.528000	0.53228	GTT		0.338	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		8	5	0	0	0	1	0	8	5				
TFIP11	24144	broad.mit.edu	37	22	26890809	26890809	+	Missense_Mutation	SNP	C	C	A			TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chr22:26890809C>A	ENST00000407690.1	-	13	2229	c.1946G>T	c.(1945-1947)aGc>aTc	p.S649I	TFIP11_ENST00000405938.1_Missense_Mutation_p.S649I|TFIP11_ENST00000407431.1_Missense_Mutation_p.S649I|TFIP11_ENST00000407148.1_Missense_Mutation_p.S649I	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	649					biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						TCCCACCAGGCTAGAGACAGA	0.502																																						ENST00000407690.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(1945-1947)aGc>aTc		tuftelin interacting protein 11							112.0	94.0	100.0					22																	26890809		2203	4300	6503	SO:0001583	missense	24144				biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:26890809C>A	AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"""G patch domain containing"""	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.1946G>T	22.37:g.26890809C>A	ENSP00000384421:p.Ser649Ile					TFIP11_ENST00000407148.1_Missense_Mutation_p.S649I|TFIP11_ENST00000405938.1_Missense_Mutation_p.S649I|TFIP11_ENST00000407431.1_Missense_Mutation_p.S649I	p.S649I	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN			13	2229	-			649					O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Missense_Mutation	SNP	ENST00000407690.1	37	c.1946G>T	CCDS13838.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.887785	0.52014	.	.	ENSG00000100109	ENST00000407690;ENST00000407431;ENST00000407148;ENST00000442693;ENST00000405938	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.43	5.43	0.79202	GC-rich sequence DNA-binding factor domain (1);	0.077604	0.85682	D	0.000000	T	0.55481	0.1923	L	0.45228	1.405	0.80722	D	1	D	0.69078	0.997	D	0.72075	0.976	T	0.37056	-0.9722	10	0.16420	T	0.52	-42.2131	18.4159	0.90570	0.0:1.0:0.0:0.0	.	649	Q9UBB9	TFP11_HUMAN	I	649;649;649;334;649	ENSP00000384421:S649I;ENSP00000383892:S649I;ENSP00000385861:S649I;ENSP00000384297:S649I	ENSP00000384297:S649I	S	-	2	0	TFIP11	25220809	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	5.485000	0.66850	2.823000	0.97156	0.650000	0.86243	AGC		0.502	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320750.1	NM_001008697		3	32	1	0	1	1	1	3	32				
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T			TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chr17:45128792G>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AATTCAGGTTGTCAGAATGCA	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128792G>T																													17.37:g.45128792G>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			4	46	1	0	0.00909568	1	0.00945951	4	46				
BPTF	2186	broad.mit.edu	37	17	65850649	65850649	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chr17:65850649C>T	ENST00000321892.4	+	2	1268	c.1207C>T	c.(1207-1209)Ctt>Ttt	p.L403F	BPTF_ENST00000335221.5_Missense_Mutation_p.L403F|BPTF_ENST00000306378.6_Missense_Mutation_p.L403F|BPTF_ENST00000424123.3_Missense_Mutation_p.L264F			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	403					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGGGGATTTGCTTTGCTGTGA	0.453																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(1207-1209)Ctt>Ttt		bromodomain PHD finger transcription factor							292.0	276.0	281.0					17																	65850649		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65850649C>T	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.1207C>T	17.37:g.65850649C>T	ENSP00000315454:p.Leu403Phe					BPTF_ENST00000424123.3_Missense_Mutation_p.L264F|BPTF_ENST00000306378.6_Missense_Mutation_p.L403F|BPTF_ENST00000335221.5_Missense_Mutation_p.L403F	p.L403F			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		2	1268	+	all_cancers(12;6e-11)		403					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.1207C>T		.	.	.	.	.	.	.	.	.	.	C	18.15	3.558812	0.65538	.	.	ENSG00000171634	ENST00000544491;ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	T;T;T	0.55234	0.53;0.53;0.53	5.62	5.62	0.85841	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	.	.	.	.	T	0.79969	0.4538	M	0.90922	3.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.997	D	0.84040	0.0364	9	0.87932	D	0	.	19.6584	0.95853	0.0:1.0:0.0:0.0	.	403;403;403	Q12830;Q12830-2;Q12830-4	BPTF_HUMAN;.;.	F	308;403;403;403;264	ENSP00000307208:L403F;ENSP00000334351:L403F;ENSP00000315454:L403F	ENSP00000307208:L403F	L	+	1	0	BPTF	63281111	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.818000	0.86416	2.646000	0.89796	0.655000	0.94253	CTT		0.453	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		4	129	0	0	0	1	0	4	129				
ERCC6L	54821	broad.mit.edu	37	X	71425181	71425181	+	Missense_Mutation	SNP	G	G	T			TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chrX:71425181G>T	ENST00000334463.3	-	2	3571	c.3436C>A	c.(3436-3438)Cct>Act	p.P1146T	ERCC6L_ENST00000373657.1_Missense_Mutation_p.P1023T|PIN4_ENST00000423432.2_Intron	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	1146					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TCTCCGGAAGGATCCTCTTCT	0.502																																						ENST00000373657.1																			0				breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38						c.(3067-3069)Cct>Act		excision repair cross-complementing rodent repair deficiency, complementation group 6-like							102.0	91.0	95.0					X																	71425181		2203	4300	6503	SO:0001583	missense	54821				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding	g.chrX:71425181G>T	AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"""PLK1-interacting checkpoint helicase"""	300687	"""excision repair cross-complementing rodent repair deficiency, complementation group 6-like"""			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.3436C>A	X.37:g.71425181G>T	ENSP00000334675:p.Pro1146Thr					PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Missense_Mutation_p.P1146T	p.P1023T			Q2NKX8	ERC6L_HUMAN			3	3669	-	Renal(35;0.156)		1146					Q8NCI1|Q96H93|Q9NXQ8	Missense_Mutation	SNP	ENST00000334463.3	37	c.3067C>A	CCDS35329.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.312147	0.40895	.	.	ENSG00000186871	ENST00000373657;ENST00000334463	D;D	0.92099	-2.94;-2.97	5.58	5.58	0.84498	.	.	.	.	.	D	0.92011	0.7469	L	0.53249	1.67	0.09310	N	1	D	0.54601	0.967	P	0.47346	0.544	D	0.87125	0.2193	9	0.72032	D	0.01	-1.2698	15.8191	0.78626	0.0:0.0:1.0:0.0	.	1146	Q2NKX8	ERC6L_HUMAN	T	1023;1146	ENSP00000362761:P1023T;ENSP00000334675:P1146T	ENSP00000334675:P1146T	P	-	1	0	ERCC6L	71341906	1.000000	0.71417	0.006000	0.13384	0.049000	0.14656	2.944000	0.49034	2.333000	0.79357	0.600000	0.82982	CCT		0.502	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057174.2	NM_017669		24	24	1	0	6.44725e-10	1	7.61948e-10	24	24				
DNM1P47	100216544	broad.mit.edu	37	15	102292950	102292950	+	RNA	SNP	C	C	A			TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chr15:102292950C>A	ENST00000561463.1	+	0	996									DNM1 pseudogene 47																		GCAGGCACAGCGGTGCGACGA	0.587																																						ENST00000561463.1																			0																																																			100216544							g.chr15:102292950C>A	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292950C>A														0	996	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.587	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	10	1	0	6.4e-05	1	6.93333e-05	3	10				
MED12	9968	broad.mit.edu	37	X	70350001	70350001	+	Missense_Mutation	SNP	T	T	A			TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chrX:70350001T>A	ENST00000374080.3	+	28	4016	c.3984T>A	c.(3982-3984)caT>caA	p.H1328Q	MED12_ENST00000374102.1_Missense_Mutation_p.H1328Q|MED12_ENST00000333646.6_Missense_Mutation_p.H1328Q			Q93074	MED12_HUMAN	mediator complex subunit 12	1328					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GCTATCCACATCGACTGCTGG	0.577			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(3982-3984)caT>caA		mediator complex subunit 12							46.0	43.0	44.0					X																	70350001		2021	4175	6196	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70350001T>A	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.3984T>A	X.37:g.70350001T>A	ENSP00000363193:p.His1328Gln					MED12_ENST00000374102.1_Missense_Mutation_p.H1328Q|MED12_ENST00000374080.3_Missense_Mutation_p.H1328Q|MED12_ENST00000478889.1_Intron	p.H1328Q	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			28	4183	+	Renal(35;0.156)		1328					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.3984T>A	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	T	17.70	3.454787	0.63290	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072;ENST00000439750	D;D;D;D;T	0.83755	-1.76;-1.76;-1.76;-1.76;1.5	4.93	2.58	0.30949	.	0.051720	0.85682	D	0.000000	D	0.82779	0.5111	L	0.58101	1.795	0.50313	D	0.999868	P;P;P;P	0.52316	0.94;0.786;0.952;0.901	P;B;P;P	0.54499	0.583;0.407;0.754;0.476	T	0.80171	-0.1493	10	0.52906	T	0.07	-16.654	4.8897	0.13721	0.0:0.4664:0.0:0.5336	.	1328;1175;1328;1328	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	Q	1328;1328;1328;1328;1296;73	ENSP00000333125:H1328Q;ENSP00000363215:H1328Q;ENSP00000363193:H1328Q;ENSP00000414203:H1296Q;ENSP00000408388:H73Q	ENSP00000333125:H1328Q	H	+	3	2	MED12	70266726	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	0.820000	0.27323	0.805000	0.34159	0.441000	0.28932	CAT		0.577	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		13	8	0	0	0	1	0	13	8				
BAI2	576	broad.mit.edu	37	1	32204532	32204532	+	Silent	SNP	C	C	T			TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chr1:32204532C>T	ENST00000373658.3	-	16	2843	c.2502G>A	c.(2500-2502)ccG>ccA	p.P834P	BAI2_ENST00000398542.1_Silent_p.P767P|BAI2_ENST00000398556.3_Silent_p.P782P|BAI2_ENST00000257070.4_Silent_p.P834P|BAI2_ENST00000398547.1_Silent_p.P767P|BAI2_ENST00000527361.1_Silent_p.P834P|BAI2_ENST00000465256.1_5'Flank|BAI2_ENST00000398538.1_Silent_p.P822P|BAI2_ENST00000373655.2_Silent_p.P834P|BAI2_ENST00000440175.2_Silent_p.P476P	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	834					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		TGACGGCCAGCGGGGGCCTGC	0.637																																						ENST00000373658.3																			0				breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55						c.(2500-2502)ccG>ccA		brain-specific angiogenesis inhibitor 2							44.0	49.0	47.0					1																	32204532		2203	4299	6502	SO:0001819	synonymous_variant	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32204532C>T	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.2502G>A	1.37:g.32204532C>T						BAI2_ENST00000398542.1_Silent_p.P767P|BAI2_ENST00000398538.1_Silent_p.P822P|BAI2_ENST00000527361.1_Silent_p.P834P|BAI2_ENST00000373655.2_Silent_p.P834P|BAI2_ENST00000398547.1_Silent_p.P767P|BAI2_ENST00000257070.4_Silent_p.P834P|BAI2_ENST00000398556.3_Silent_p.P782P|BAI2_ENST00000440175.2_Silent_p.P476P	p.P834P	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	16	2843	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	834					B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Silent	SNP	ENST00000373658.3	37	c.2502G>A	CCDS346.2																																																																																				0.637	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		27	41	0	0	0	1	0	27	41				
PHIP	55023	broad.mit.edu	37	6	79675671	79675671	+	Missense_Mutation	SNP	T	T	C			TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chr6:79675671T>C	ENST00000275034.4	-	28	3475	c.3308A>G	c.(3307-3309)tAc>tGc	p.Y1103C	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1103	Mediates interaction with IRS1. {ECO:0000250}.				cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CCAAACATTGTAGCATTGAAA	0.373																																						ENST00000275034.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.(3307-3309)tAc>tGc		pleckstrin homology domain interacting protein							134.0	143.0	140.0					6																	79675671		2203	4300	6503	SO:0001583	missense	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79675671T>C	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.3308A>G	6.37:g.79675671T>C	ENSP00000275034:p.Tyr1103Cys					PHIP_ENST00000479165.1_5'UTR	p.Y1103C	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	28	3475	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	1103			Mediates interaction with IRS1 (By similarity).		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	c.3308A>G	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	T	16.57	3.160639	0.57368	.	.	ENSG00000146247	ENST00000275034	T	0.41758	0.99	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000001	T	0.54679	0.1873	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.55541	-0.8125	9	.	.	.	-5.5745	15.3474	0.74350	0.0:0.0:0.0:1.0	.	1103;1103	A7J992;Q8WWQ0	.;PHIP_HUMAN	C	1103	ENSP00000275034:Y1103C	.	Y	-	2	0	PHIP	79732390	1.000000	0.71417	0.994000	0.49952	0.907000	0.53573	4.595000	0.61048	2.279000	0.76181	0.528000	0.53228	TAC		0.373	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			12	84	0	0	0	1	0	12	84				
UNC79	57578	broad.mit.edu	37	14	94110024	94110024	+	Missense_Mutation	SNP	A	A	G	rs192563227		TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chr14:94110024A>G	ENST00000393151.2	+	35	6142	c.6142A>G	c.(6142-6144)Atc>Gtc	p.I2048V	UNC79_ENST00000256339.4_Missense_Mutation_p.I1871V|UNC79_ENST00000555664.1_Missense_Mutation_p.I2009V|UNC79_ENST00000553484.1_Missense_Mutation_p.I2070V			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2048					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCTGCTGGATATCATGCAGTC	0.458													A|||	1	0.000199681	0.0008	0.0	5008	,	,		20448	0.0		0.0	False		,,,				2504	0.0					ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(6208-6210)Atc>Gtc		unc-79 homolog (C. elegans)							143.0	130.0	135.0					14																	94110024		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94110024A>G	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.6142A>G	14.37:g.94110024A>G	ENSP00000376858:p.Ile2048Val					UNC79_ENST00000555664.1_Missense_Mutation_p.I2009V|UNC79_ENST00000393151.2_Missense_Mutation_p.I2048V|UNC79_ENST00000256339.4_Missense_Mutation_p.I1871V	p.I2070V			Q9P2D8	UNC79_HUMAN			36	6362	+			2048					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.6208A>G		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	22.8	4.332284	0.81801	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.60196	0.2250	M	0.72118	2.19	0.53688	D	0.999972	B	0.31837	0.342	P	0.54026	0.74	T	0.59799	-0.7386	10	0.51188	T	0.08	-20.2907	16.2526	0.82494	1.0:0.0:0.0:0.0	.	2070	C9JQL1	.	V	1871;2009;2070;2048;2070	ENSP00000256339:I1871V;ENSP00000450868:I2009V;ENSP00000451360:I2070V;ENSP00000376858:I2048V	ENSP00000256339:I1871V	I	+	1	0	KIAA1409	93179777	1.000000	0.71417	0.989000	0.46669	0.985000	0.73830	9.339000	0.96797	2.241000	0.73720	0.482000	0.46254	ATC		0.458	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		42	45	0	0	0	1	0	42	45				
BAI2	576	broad.mit.edu	37	1	32204531	32204531	+	Silent	SNP	G	G	A			TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chr1:32204531G>A	ENST00000373658.3	-	16	2844	c.2503C>T	c.(2503-2505)Ctg>Ttg	p.L835L	BAI2_ENST00000398542.1_Silent_p.L768L|BAI2_ENST00000398556.3_Silent_p.L783L|BAI2_ENST00000257070.4_Silent_p.L835L|BAI2_ENST00000398547.1_Silent_p.L768L|BAI2_ENST00000527361.1_Silent_p.L835L|BAI2_ENST00000465256.1_5'Flank|BAI2_ENST00000398538.1_Silent_p.L823L|BAI2_ENST00000373655.2_Silent_p.L835L|BAI2_ENST00000440175.2_Silent_p.L477L	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	835					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GTGACGGCCAGCGGGGGCCTG	0.632																																						ENST00000373658.3																			0				breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55						c.(2503-2505)Ctg>Ttg		brain-specific angiogenesis inhibitor 2							44.0	50.0	48.0					1																	32204531		2203	4299	6502	SO:0001819	synonymous_variant	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32204531G>A	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.2503C>T	1.37:g.32204531G>A						BAI2_ENST00000398542.1_Silent_p.L768L|BAI2_ENST00000398538.1_Silent_p.L823L|BAI2_ENST00000527361.1_Silent_p.L835L|BAI2_ENST00000373655.2_Silent_p.L835L|BAI2_ENST00000398547.1_Silent_p.L768L|BAI2_ENST00000257070.4_Silent_p.L835L|BAI2_ENST00000398556.3_Silent_p.L783L|BAI2_ENST00000440175.2_Silent_p.L477L	p.L835L	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	16	2844	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	835					B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Silent	SNP	ENST00000373658.3	37	c.2503C>T	CCDS346.2																																																																																				0.632	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		27	42	0	0	0	1	0	27	42				
RBM42	79171	broad.mit.edu	37	19	36124121	36124121	+	Silent	SNP	G	G	T			TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chr19:36124121G>T	ENST00000262633.4	+	6	756	c.651G>T	c.(649-651)ccG>ccT	p.P217P	RBM42_ENST00000588161.1_Silent_p.P187P|RBM42_ENST00000586618.1_Intron|RBM42_ENST00000589871.1_Silent_p.P195P|RBM42_ENST00000592202.1_Silent_p.P163P|RBM42_ENST00000589559.1_Silent_p.P188P|RBM42_ENST00000360475.4_Silent_p.P188P	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	217	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CAGGGCCCCCGCTGGGCTCCA	0.687																																						ENST00000262633.4																			0				breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21						c.(649-651)ccG>ccT		RNA binding motif protein 42							43.0	53.0	50.0					19																	36124121		2195	4297	6492	SO:0001819	synonymous_variant	79171					cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:36124121G>T	BC004204	CCDS12468.1	19q13.12	2013-02-12				ENSG00000126254		"""RNA binding motif (RRM) containing"""	28117	protein-coding gene	gene with protein product		613232				12477932	Standard	NM_024321		Approved	MGC10433	uc002oan.3	Q9BTD8		ENST00000262633.4:c.651G>T	19.37:g.36124121G>T						RBM42_ENST00000586618.1_Intron|RBM42_ENST00000589871.1_Silent_p.P195P|RBM42_ENST00000588161.1_Silent_p.P187P|RBM42_ENST00000592202.1_Silent_p.P163P|RBM42_ENST00000360475.4_Silent_p.P188P|RBM42_ENST00000589559.1_Silent_p.P188P	p.P217P	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		6	756	+	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		217			Pro-rich.		O00320|Q8N5R7|Q9BU66	Silent	SNP	ENST00000262633.4	37	c.651G>T	CCDS12468.1																																																																																				0.687	RBM42-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459057.2	NM_024321		22	31	1	0	8.04996e-18	1	9.96661e-18	22	31				
EHF	26298	broad.mit.edu	37	11	34673125	34673125	+	Missense_Mutation	SNP	A	A	G			TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chr11:34673125A>G	ENST00000533754.1	+	5	660	c.443A>G	c.(442-444)tAt>tGt	p.Y148C	EHF_ENST00000530286.1_Missense_Mutation_p.Y148C|EHF_ENST00000257831.3_Missense_Mutation_p.Y148C|EHF_ENST00000531794.1_Missense_Mutation_p.Y170C|EHF_ENST00000450654.2_Missense_Mutation_p.Y148C					ets homologous factor										NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			GACGAGAACTATTTATATGAC	0.428																																						ENST00000257831.3																		NFIA/EHF(2)	0				autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17						c.(442-444)tAt>tGt		ets homologous factor							114.0	107.0	110.0					11																	34673125		2202	4298	6500	SO:0001583	missense	26298				cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:34673125A>G	AF170583	CCDS7894.1, CCDS55752.1, CCDS55753.1	11p12	2008-07-18				ENSG00000135373			3246	protein-coding gene	gene with protein product	"""epithelium-specific ets factor 3"", ""ESE3 transcription factor"""	605439				10527851	Standard	NM_012153		Approved	ESE3, ESEJ	uc021qfu.1	Q9NZC4		ENST00000533754.1:c.443A>G	11.37:g.34673125A>G	ENSP00000435837:p.Tyr148Cys					EHF_ENST00000530286.1_Missense_Mutation_p.Y148C|EHF_ENST00000531794.1_Missense_Mutation_p.Y170C|EHF_ENST00000533754.1_Missense_Mutation_p.Y148C|EHF_ENST00000450654.2_Missense_Mutation_p.Y148C	p.Y148C	NM_012153.5	NP_036285.2	Q9NZC4	EHF_HUMAN	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)		5	564	+		all_hematologic(20;0.117)	148						Missense_Mutation	SNP	ENST00000533754.1	37	c.443A>G	CCDS7894.1	.	.	.	.	.	.	.	.	.	.	A	19.25	3.790737	0.70452	.	.	ENSG00000135373	ENST00000257831;ENST00000450654;ENST00000530286;ENST00000533754;ENST00000529527;ENST00000525253;ENST00000531794;ENST00000532302	T;T;T;T;T;T;T;T	0.37915	3.2;2.9;3.2;3.2;1.22;1.32;3.17;1.17	6.17	6.17	0.99709	.	0.896139	0.09982	N	0.730843	T	0.52175	0.1718	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.936;0.997;0.996	T	0.29792	-1.0000	10	0.37606	T	0.19	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	170;148;148	E9PSB2;Q9NZC4-2;Q9NZC4	.;.;EHF_HUMAN	C	148;148;148;148;148;148;170;148	ENSP00000257831:Y148C;ENSP00000399733:Y148C;ENSP00000433508:Y148C;ENSP00000435837:Y148C;ENSP00000432905:Y148C;ENSP00000434395:Y148C;ENSP00000435835:Y170C;ENSP00000432460:Y148C	ENSP00000257831:Y148C	Y	+	2	0	EHF	34629701	1.000000	0.71417	0.998000	0.56505	0.907000	0.53573	3.437000	0.52863	2.371000	0.80710	0.533000	0.62120	TAT		0.428	EHF-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389855.1	NM_012153		28	31	0	0	0	1	0	28	31				
MAPKAPK3	7867	broad.mit.edu	37	3	50681871	50681871	+	Missense_Mutation	SNP	A	A	G			TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chr3:50681871A>G	ENST00000446044.1	+	8	1132	c.536A>G	c.(535-537)aAa>aGa	p.K179R	MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.K179R	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	179	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|innate immune response (GO:0045087)|macropinocytosis (GO:0044351)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|Ras protein signal transduction (GO:0007265)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		TCTAAGGAGAAAGACGCAGTG	0.498																																						ENST00000446044.1																			0				central_nervous_system(1)|ovary(1)	2						c.(535-537)aAa>aGa		mitogen-activated protein kinase-activated protein kinase 3							129.0	119.0	122.0					3																	50681871		2203	4300	6503	SO:0001583	missense	7867				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity	g.chr3:50681871A>G	U43784	CCDS2832.1	3p21.3	2004-03-10			ENSG00000114738	ENSG00000114738			6888	protein-coding gene	gene with protein product		602130				8626550, 8622688	Standard	NM_004635		Approved	3pK, MAPKAP3, 3PK	uc003dba.2	Q16644	OTTHUMG00000156850	ENST00000446044.1:c.536A>G	3.37:g.50681871A>G	ENSP00000396467:p.Lys179Arg					MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.K179R	p.K179R	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)	8	1132	+			179			Protein kinase.		B5BU67	Missense_Mutation	SNP	ENST00000446044.1	37	c.536A>G	CCDS2832.1	.	.	.	.	.	.	.	.	.	.	A	2.044	-0.419284	0.04766	.	.	ENSG00000114738	ENST00000446044;ENST00000430409;ENST00000357955	T;T;T	0.50001	0.76;0.76;0.76	5.79	-1.02	0.10135	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.733496	0.13890	N	0.355652	T	0.26268	0.0641	N	0.20845	0.615	0.09310	N	1	B	0.14012	0.009	B	0.15052	0.012	T	0.15037	-1.0451	10	0.26408	T	0.33	-9.6247	6.0496	0.19779	0.4366:0.369:0.1944:0.0	.	179	Q16644	MAPK3_HUMAN	R	179	ENSP00000396467:K179R;ENSP00000410970:K179R;ENSP00000350639:K179R	ENSP00000350639:K179R	K	+	2	0	MAPKAPK3	50656875	0.334000	0.24739	0.001000	0.08648	0.034000	0.12701	1.053000	0.30442	-0.387000	0.07809	-0.313000	0.08912	AAA		0.498	MAPKAPK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346237.1	NM_004635		3	90	0	0	0	1	0	3	90				
RAD54L2	23132	broad.mit.edu	37	3	51697226	51697226	+	Silent	SNP	G	G	C			TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chr3:51697226G>C	ENST00000409535.2	+	22	4319	c.4194G>C	c.(4192-4194)gcG>gcC	p.A1398A	RAD54L2_ENST00000296477.3_Silent_p.A1092A	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	1398						nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GGATGTTTGCGCCTTTTCCTT	0.577																																						ENST00000409535.1																			0				NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31						c.(4192-4194)gcG>gcC		RAD54-like 2 (S. cerevisiae)							159.0	134.0	143.0					3																	51697226		2203	4300	6503	SO:0001819	synonymous_variant	23132					nucleus	ATP binding|DNA binding|helicase activity	g.chr3:51697226G>C	AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.4194G>C	3.37:g.51697226G>C						RAD54L2_ENST00000296477.3_Silent_p.A1092A	p.A1398A	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)	22	4319	+			1398					Q8TB57|Q9BV54	Silent	SNP	ENST00000409535.2	37	c.4194G>C	CCDS33765.2	.	.	.	.	.	.	.	.	.	.	G	4.390	0.072012	0.08436	.	.	ENSG00000164080	ENST00000432863	D	0.94613	-3.47	5.56	3.41	0.39046	.	0.084341	0.48767	D	0.000170	D	0.92205	0.7528	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.88434	0.3037	7	0.33940	T	0.23	-14.256	4.2008	0.10466	0.0877:0.1259:0.5361:0.2503	.	.	.	.	P	1227	ENSP00000410283:A1227P	ENSP00000410283:A1227P	A	+	1	0	RAD54L2	51672266	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	0.867000	0.27968	1.314000	0.45095	0.655000	0.94253	GCC		0.577	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328700.2	NM_015106		49	32	0	0	0	1	0	49	32				
PDP1	54704	broad.mit.edu	37	8	94934280	94934280	+	5'UTR	SNP	C	C	G			TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chr8:94934280C>G	ENST00000297598.4	+	0	262				PDP1_ENST00000520728.1_5'UTR|PDP1_ENST00000396200.3_Missense_Mutation_p.S23C|PDP1_ENST00000517764.1_5'UTR	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1						cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						CCACTGTTCTCTGATGCCATG	0.443																																						ENST00000396200.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						c.(67-69)tCt>tGt		pyruvate dehyrogenase phosphatase catalytic subunit 1							129.0	125.0	126.0					8																	94934280		2203	4300	6503	SO:0001623	5_prime_UTR_variant	54704				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity	g.chr8:94934280C>G	AF155661	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	3.1.3.43	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9279	protein-coding gene	gene with protein product		605993	"""protein phosphatase 2C, magnesium-dependent, catalytic subunit"""	PPM2C		8396421	Standard	NM_001161779		Approved	PDP, PDH	uc003ygf.3	Q9P0J1		ENST00000297598.4:c.-8C>G	8.37:g.94934280C>G						PDP1_ENST00000297598.4_5'UTR|PDP1_ENST00000520728.1_5'UTR|PDP1_ENST00000517764.1_5'UTR	p.S23C	NM_001161779.1	NP_001155251.1	Q9P0J1	PDP1_HUMAN			3	344	+			0					B3KX71|J3KPU0|Q5U5K1	Missense_Mutation	SNP	ENST00000297598.4	37	c.68C>G	CCDS6259.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.060988	0.55432	.	.	ENSG00000164951	ENST00000396200	T	0.47869	0.83	6.16	6.16	0.99307	.	0.000000	0.35466	U	0.003186	T	0.34629	0.0904	N	0.14661	0.345	0.29964	N	0.81916	P	0.42785	0.79	B	0.40741	0.339	T	0.43393	-0.9394	10	0.87932	D	0	-13.8974	13.9788	0.64291	0.0:0.9314:0.0:0.0686	.	49	B4DYX8	.	C	23	ENSP00000379503:S23C	ENSP00000379503:S23C	S	+	2	0	PDP1	95003456	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.331000	0.52075	2.937000	0.99478	0.650000	0.86243	TCT		0.443	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378415.2	NM_018444		13	30	0	0	0	1	0	13	30				
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T			TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632																																						ENST00000541274.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(379-381)agT>agA		aquaporin 7							36.0	43.0	41.0					9																	33385614		2199	4296	6495	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385614A>T	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.381T>A	9.37:g.33385614A>T	ENSP00000438860:p.Ser127Arg					AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR	p.S127R			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	830	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000541274.1	37	c.381T>A		.	.	.	.	.	.	.	.	.	.	a	7.886	0.731251	0.15507	.	.	ENSG00000165269	ENST00000541274	T	0.54479	0.57	3.27	-5.32	0.02722	.	.	.	.	.	T	0.32164	0.0820	.	.	.	0.09310	N	1	B	0.21905	0.062	B	0.16289	0.015	T	0.25710	-1.0124	8	0.87932	D	0	.	2.0158	0.03497	0.1768:0.1404:0.4062:0.2767	.	127	B7Z7F6	.	R	127	ENSP00000438860:S127R	ENSP00000438860:S127R	S	-	3	2	AQP7	33375614	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.696000	0.05104	-1.265000	0.02449	0.449000	0.29647	AGT		0.632	AQP7-204	KNOWN	basic	protein_coding	protein_coding		NM_001170		4	41	0	0	0	1	0	4	41				
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chr7:114270000G>A	ENST00000393494.2	+	5	816	c.537G>A	c.(535-537)caG>caA	p.Q179Q	FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000393500.3_Silent_p.Q104Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q			O15409	FOXP2_HUMAN	forkhead box P2	179	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q204Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcaacaacagcagcagcagc	0.498																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q204Q(1)	lung(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(310-312)caG>caA		forkhead box P2							41.0	38.0	39.0					7																	114270000		2199	4282	6481	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114270000G>A	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.537G>A	7.37:g.114270000G>A						FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|AC020606.1_ENST00000580664.1_RNA	p.Q104Q			O15409	FOXP2_HUMAN			11	1132	+			179			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.312G>A	CCDS5760.1																																																																																				0.498	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		3	39	0	0	0	1	0	3	39				
AASDH	132949	broad.mit.edu	37	4	57220269	57220269	+	Frame_Shift_Del	DEL	A	A	-	rs148777026		TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chr4:57220269delA	ENST00000205214.6	-	8	1499	c.1319delT	c.(1318-1320)ttgfs	p.L440fs	AASDH_ENST00000602986.1_Frame_Shift_Del_p.L287fs|AASDH_ENST00000451613.1_Frame_Shift_Del_p.L440fs|AASDH_ENST00000434343.2_Intron|AASDH_ENST00000510762.1_5'Flank|AASDH_ENST00000513376.1_Frame_Shift_Del_p.L340fs|AASDH_ENST00000502617.1_Frame_Shift_Del_p.L440fs	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	440					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)	p.?(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TTTTCGTCCCAAAAAAAAAAT	0.363																																						ENST00000205214.6																			1	Unknown(1)	p.?(1)	skin(1)	endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(1318-1320)tgfs		aminoadipate-semialdehyde dehydrogenase																																				SO:0001589	frameshift_variant	132949				fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	g.chr4:57220269delA	AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.1319delT	4.37:g.57220269delA	ENSP00000205214:p.Leu440fs					AASDH_ENST00000451613.1_Frame_Shift_Del_p.L440fs|AASDH_ENST00000513376.1_Frame_Shift_Del_p.L340fs|AASDH_ENST00000434343.2_Intron|AASDH_ENST00000502617.1_Frame_Shift_Del_p.L440fs|AASDH_ENST00000602986.1_Frame_Shift_Del_p.L287fs	p.L440fs	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN			8	1499	-	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)	440					A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Frame_Shift_Del	DEL	ENST00000205214.6	37	c.1319delT	CCDS3504.1																																																																																				0.363	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806		11	93						11	93	---	---	---	---
HLA-V	352962	broad.mit.edu	37	6	29761783	29761784	+	RNA	INS	-	-	G			TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chr6:29761783_29761784insG	ENST00000457107.1	+	0	1009_1010									major histocompatibility complex, class I, V (pseudogene)																		ggattggtgcaaagccctgctt	0.55																																						ENST00000457107.1																			0																																																			352962							g.chr6:29761783_29761784insG	M96332		6p21.3	2012-10-05	2007-12-12	2007-12-12	ENSG00000181126	ENSG00000181126		"""Histocompatibility complex"""	23482	pseudogene	pseudogene			"""HLA-75 pseudogene"""	HLA-75			Standard	NG_002729		Approved	dJ377H14.4			OTTHUMG00000031277		6.37:g.29761783_29761784insG														0	1009_1010	+									RNA	INS	ENST00000457107.1	37																																																																																						0.550	HLA-V-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000105231.1	NG_002729		3	3						3	3	---	---	---	---
SGK223	157285	broad.mit.edu	37	8	8234868	8234869	+	In_Frame_Ins	INS	-	-	GCCGCT	rs59372311|rs150979349	byFrequency	TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chr8:8234868_8234869insGCCGCT	ENST00000520004.1	-	3	1314_1315	c.1050_1051insAGCGGC	c.(1048-1053)ggcgcc>ggcAGCGGCgcc	p.349_350insGS	SGK223_ENST00000330777.4_In_Frame_Ins_p.349_350insGS			Q86YV5	SG223_HUMAN		349							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.G350_A351insSG(1)|p.G350_S351insSG(1)									GGGCTACTGGCGCCGCTGCCGC	0.653														2980	0.595048	0.7254	0.4942	5008	,	,		15838	0.629		0.3827	False		,,,				2504	0.6738				GBM(34;731 755 10259 33573 33867)	ENST00000520004.1																			2	Insertion - In frame(2)	p.G350_A351insSG(1)|p.G350_S351insSG(1)	breast(2)								c.(1048-1053)ggccag>ggAGCGGCccag																																						SO:0001652	inframe_insertion	157285						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8234868_8234869insGCCGCT																												ENST00000520004.1:c.1045_1050dupAGCGGC	8.37:g.8234869_8234874dupGCCGCT	ENSP00000428054:p.Gly348_Ser349dup					SGK223_ENST00000330777.4_In_Frame_Ins_p.350_351GQ>GAAQ	p.350_351GQ>GAAQ			Q86YV5	SG223_HUMAN			3	1314_1315	-			350					Q8N3N5	In_Frame_Ins	INS	ENST00000520004.1	37	c.1050_1051insAGCGGC	CCDS43706.1																																																																																				0.653	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			2	4						2	4	---	---	---	---
ANAPC7	51434	broad.mit.edu	37	12	110825686	110825686	+	Frame_Shift_Del	DEL	G	G	-			TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chr12:110825686delG	ENST00000455511.3	-	5	634	c.634delC	c.(634-636)cttfs	p.L212fs	ANAPC7_ENST00000450008.2_Frame_Shift_Del_p.L212fs|RP11-478C19.2_ENST00000550231.1_RNA	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	212					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						TTTACAGAAAGGGACAACAAG	0.473																																						ENST00000455511.3																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						c.(634-636)ttfs		anaphase promoting complex subunit 7							86.0	68.0	74.0					12																	110825686		2203	4300	6503	SO:0001589	frameshift_variant	51434				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding	g.chr12:110825686delG	AF191340	CCDS9145.2, CCDS44971.1	12q13.12	2013-01-10			ENSG00000196510	ENSG00000196510		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	17380	protein-coding gene	gene with protein product		606949					Standard	NM_016238		Approved	APC7	uc001tqo.2	Q9UJX3	OTTHUMG00000157009	ENST00000455511.3:c.634delC	12.37:g.110825686delG	ENSP00000394394:p.Leu212fs					RP11-478C19.2_ENST00000550231.1_RNA|ANAPC7_ENST00000450008.2_Frame_Shift_Del_p.L212fs	p.L212fs	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN			5	634	-			212					Q96AC4|Q96GF4|Q9BU24|Q9NT16	Frame_Shift_Del	DEL	ENST00000455511.3	37	c.634delC	CCDS9145.2																																																																																				0.473	ANAPC7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347075.3	NM_016238		11	16						11	16	---	---	---	---
IGHV1OR16-2	28314	broad.mit.edu	37	16	32989896	32989897	+	RNA	DEL	TA	TA	-			TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chr16:32989896_32989897delTA	ENST00000567619.1	-	0	499																											TCCACTCCTGTATTCTCTCCAC	0.51																																						ENST00000567619.1																			0																																																			28314							g.chr16:32989896_32989897delTA																													16.37:g.32989896_32989897delTA														0	499	-									RNA	DEL	ENST00000567619.1	37																																																																																						0.510	RP11-19N8.2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432089.1			3	6						3	6	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29496993	29496993	+	Frame_Shift_Del	DEL	A	A	-			TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chr17:29496993delA	ENST00000358273.4	+	5	947	c.564delA	c.(562-564)gcafs	p.A188fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.A188fs|NF1_ENST00000431387.4_Frame_Shift_Del_p.A188fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	188					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGGATTGTGCAAAATTAAAAC	0.279			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(562-564)gcfs		neurofibromin 1							79.0	79.0	79.0					17																	29496993		2203	4298	6501	SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29496993delA		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.564delA	17.37:g.29496993delA	ENSP00000351015:p.Ala188fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000431387.4_Frame_Shift_Del_p.A188fs|NF1_ENST00000356175.3_Frame_Shift_Del_p.A188fs	p.A188fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	5	947	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	188					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.564delA	CCDS42292.1																																																																																				0.279	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		10	7						10	7	---	---	---	---
AMMECR1	9949	broad.mit.edu	37	X	109561207	109561209	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chrX:109561207_109561209delGGA	ENST00000262844.5	-	1	258_260	c.91_93delTCC	c.(91-93)tccdel	p.S31del	AMMECR1_ENST00000372057.1_Intron|AMMECR1_ENST00000372059.2_In_Frame_Del_p.S31del|AMMECR1_ENST00000496695.1_5'Flank	NM_015365.2	NP_056180.1	Q9Y4X0	AMMR1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	31	Gly/Ser-rich.									large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						CGCTGCAGTGGGAGGAGGAGGAG	0.68																																						ENST00000262844.5																			0				large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						c.(91-93)del		Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1			,,	2,55,3416		0,0,1,1,5,34,11,1461,459					,,	4.6	1.0			8	1,159,5901		0,0,1,0,5,91,58,2161,1487	no	codingComplex,intron,codingComplex	AMMECR1	NM_015365.2,NM_001171689.1,NM_001025580.1	,,	0,0,2,1,10,125,69,3622,1946	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		2.6398,1.6412,2.2761	,,	,,		3,214,9317				SO:0001651	inframe_deletion	9949							g.chrX:109561207_109561209delGGA	AJ007014	CCDS14551.1, CCDS35368.1, CCDS55476.1	Xq22.3	2014-06-17	2008-09-12		ENSG00000101935	ENSG00000101935			467	protein-coding gene	gene with protein product		300195				10049589, 9480748	Standard	NM_001171689		Approved		uc004eoo.3	Q9Y4X0	OTTHUMG00000022197	ENST00000262844.5:c.91_93delTCC	X.37:g.109561216_109561218delGGA	ENSP00000262844:p.Ser31del					AMMECR1_ENST00000372057.1_Intron|AMMECR1_ENST00000372059.2_In_Frame_Del_p.S31del	p.S31del	NM_015365.2	NP_056180.1	Q9Y4X0	AMER1_HUMAN			1	258_260	-			31			Gly/Ser-rich.		Q5JYV9|Q6P9D8|Q8WX22|Q9UIQ8	In_Frame_Del	DEL	ENST00000262844.5	37	c.91_93delTCC	CCDS14551.1																																																																																				0.680	AMMECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057907.1			3	5						3	5	---	---	---	---
