#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
KRTAP4-6	81871	broad.mit.edu	37	17	39296254	39296254	+	Silent	SNP	C	C	G	rs72483263		TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr17:39296254C>G	ENST00000345847.4	-	1	485	c.486G>C	c.(484-486)ccG>ccC	p.P162P		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	162	30 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						ggcagcagcacgggcggcagc	0.662																																						ENST00000345847.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(484-486)ccG>ccC		keratin associated protein 4-6																																				SO:0001819	synonymous_variant	81871					keratin filament		g.chr17:39296254C>G	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.486G>C	17.37:g.39296254C>G							p.P162P	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	485	-			158			29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].		Q9BYR1	Silent	SNP	ENST00000345847.4	37	c.486G>C	CCDS54125.1																																																																																				0.662	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			3	30	0	0	0	1	0	3	30				
OR4A5	81318	broad.mit.edu	37	11	51411626	51411626	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr11:51411626C>G	ENST00000319760.6	-	1	822	c.770G>C	c.(769-771)aGa>aCa	p.R257T		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TGAAACAGGTCTAACATATAT	0.388																																						ENST00000319760.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49						c.(769-771)aGa>aCa		olfactory receptor, family 4, subfamily A, member 5							52.0	52.0	52.0					11																	51411626		2201	4296	6497	SO:0001583	missense	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51411626C>G	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.770G>C	11.37:g.51411626C>G	ENSP00000367664:p.Arg257Thr						p.R257T	NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN			1	822	-		all_lung(304;0.236)	257					Q6IF84	Missense_Mutation	SNP	ENST00000319760.6	37	c.770G>C	CCDS31497.1	.	.	.	.	.	.	.	.	.	.	.	8.129	0.782715	0.16189	.	.	ENSG00000221840	ENST00000319760	T	0.37584	1.19	2.2	2.2	0.27929	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000084	T	0.55940	0.1952	M	0.85299	2.745	0.20563	N	0.999888	D	0.89917	1.0	D	0.80764	0.994	T	0.41288	-0.9517	10	0.87932	D	0	.	4.8929	0.13735	0.0:0.8206:0.0:0.1794	.	257	Q8NH83	OR4A5_HUMAN	T	257	ENSP00000367664:R257T	ENSP00000367664:R257T	R	-	2	0	OR4A5	51268202	0.000000	0.05858	0.695000	0.30226	0.053000	0.15095	-0.078000	0.11375	1.554000	0.49487	0.162000	0.16502	AGA		0.388	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		47	70	0	0	0	1	0	47	70				
SUMF1	285362	broad.mit.edu	37	3	4452611	4452611	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr3:4452611C>T	ENST00000272902.5	-	7	927	c.892G>A	c.(892-894)Gca>Aca	p.A298T	SUMF1_ENST00000405420.2_Missense_Mutation_p.A298T|SUMF1_ENST00000458465.2_Missense_Mutation_p.A166T|SUMF1_ENST00000534863.1_Missense_Mutation_p.A298T|SUMF1_ENST00000383843.5_Missense_Mutation_p.A273T	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1	298					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)	metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		CATTCCCATGCGTTCCCCACT	0.423																																						ENST00000272902.5																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13						c.(892-894)Gca>Aca		sulfatase modifying factor 1							199.0	177.0	185.0					3																	4452611		2203	4300	6503	SO:0001583	missense	285362					endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity	g.chr3:4452611C>T	BC017005	CCDS2564.1, CCDS54548.1, CCDS54549.1	3p26.1	2009-07-23			ENSG00000144455	ENSG00000144455			20376	protein-coding gene	gene with protein product		607939				12757705, 12757706	Standard	NM_182760		Approved	FGE, UNQ3037	uc003bpz.2	Q8NBK3	OTTHUMG00000090269	ENST00000272902.5:c.892G>A	3.37:g.4452611C>T	ENSP00000272902:p.Ala298Thr					SUMF1_ENST00000383843.5_Missense_Mutation_p.A273T|SUMF1_ENST00000458465.2_Missense_Mutation_p.A166T|SUMF1_ENST00000405420.2_Missense_Mutation_p.A298T|SUMF1_ENST00000534863.1_Missense_Mutation_p.A298T	p.A298T	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)	7	927	-		Melanoma(143;0.068)|Colorectal(144;0.233)	298					B4DXK5|B7XD05|E9PGL0|G5E9B0|Q0VAC6|Q0VAC7|Q2NL78|Q53ZE4|Q6UY39|Q96AK5|Q96DK8	Missense_Mutation	SNP	ENST00000272902.5	37	c.892G>A	CCDS2564.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.130332	0.37630	.	.	ENSG00000144455	ENST00000534982;ENST00000534863;ENST00000272902;ENST00000383843;ENST00000458465;ENST00000405420	D;D;D;D;D	0.97731	-4.51;-4.51;-4.51;-3.44;-4.51	5.42	5.42	0.78866	C-type lectin fold (1);Formylglycine-generating sulphatase enzyme domain (2);	0.253406	0.45126	D	0.000394	D	0.97536	0.9193	L	0.55743	1.74	0.41894	D	0.990384	D;B;P;P	0.53885	0.963;0.234;0.942;0.646	P;B;P;B	0.52909	0.467;0.076;0.713;0.189	D	0.98198	1.0466	10	0.59425	D	0.04	-33.5749	17.9951	0.89181	0.0:1.0:0.0:0.0	.	166;273;298;298	E9PF05;G5E9B0;E9PGL0;Q8NBK3	.;.;.;SUMF1_HUMAN	T	298;298;298;273;166;298	ENSP00000440421:A298T;ENSP00000272902:A298T;ENSP00000373355:A273T;ENSP00000410060:A166T;ENSP00000384977:A298T	ENSP00000272902:A298T	A	-	1	0	SUMF1	4427611	0.981000	0.34729	0.007000	0.13788	0.023000	0.10783	6.955000	0.76007	2.544000	0.85801	0.561000	0.74099	GCA		0.423	SUMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206591.2	NM_182760		10	268	0	0	0	1	0	10	268				
NBAS	51594	broad.mit.edu	37	2	15448386	15448386	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr2:15448386G>A	ENST00000281513.5	-	40	4776	c.4751C>T	c.(4750-4752)gCc>gTc	p.A1584V	NBAS_ENST00000441750.1_Missense_Mutation_p.A1464V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1584					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GGCCAATCGGGCATAGATCTG	0.473																																						ENST00000281513.5																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(4750-4752)gCc>gTc		neuroblastoma amplified sequence							95.0	90.0	92.0					2																	15448386		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15448386G>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.4751C>T	2.37:g.15448386G>A	ENSP00000281513:p.Ala1584Val					NBAS_ENST00000441750.1_Missense_Mutation_p.A1464V	p.A1584V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			40	4776	-			1584					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.4751C>T	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.72|19.72	3.879552|3.879552	0.72294|0.72294	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513|ENST00000442506	T;T|.	0.09723|.	2.95;3.13|.	6.16|6.16	4.35|4.35	0.52113|0.52113	.|.	0.346401|.	0.37348|.	N|.	0.002139|.	T|T	0.64571|0.64571	0.2610|0.2610	M|M	0.63428|0.63428	1.95|1.95	0.43032|0.43032	D|D	0.994603|0.994603	P;P|.	0.44006|.	0.824;0.741|.	B;B|.	0.42112|.	0.376;0.104|.	T|T	0.62680|0.62680	-0.6803|-0.6803	10|5	0.87932|.	D|.	0|.	.|.	12.141|12.141	0.53998|0.53998	0.0644:0.1214:0.8142:0.0|0.0644:0.1214:0.8142:0.0	.|.	1464;1584|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	V|S	1464;1584|632	ENSP00000413201:A1464V;ENSP00000281513:A1584V|.	ENSP00000281513:A1584V|.	A|P	-|-	2|1	0|0	NBAS|NBAS	15365837|15365837	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.502000|0.502000	0.33828|0.33828	6.403000|6.403000	0.73264|0.73264	0.907000|0.907000	0.36646|0.36646	0.650000|0.650000	0.86243|0.86243	GCC|CCC		0.473	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		4	113	0	0	0	1	0	4	113				
COL5A1	1289	broad.mit.edu	37	9	137591840	137591840	+	Silent	SNP	C	C	T	rs369180922		TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr9:137591840C>T	ENST00000371817.3	+	3	777	c.363C>T	c.(361-363)aaC>aaT	p.N121N	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	121	Laminin G-like.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCATCTACAACGAGCAGGGTA	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		19502	0.001		0.0	False		,,,				2504	0.0					ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(361-363)aaC>aaT		collagen, type V, alpha 1		C		0,4406		0,0,2203	91.0	91.0	91.0		363	-7.5	0.9	9		91	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	COL5A1	NM_000093.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		121/1839	137591840	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137591840C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.363C>T	9.37:g.137591840C>T						COL5A1_ENST00000464187.1_3'UTR	p.N121N	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	3	777	+		Myeloproliferative disorder(178;0.0341)	121			Laminin G-like.|TSP N-terminal.		Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	c.363C>T	CCDS6982.1																																																																																				0.587	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		47	84	0	0	0	1	0	47	84				
TTN	7273	broad.mit.edu	37	2	179605461	179605461	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr2:179605461G>C	ENST00000591111.1	-	46	11772	c.11548C>G	c.(11548-11550)Cta>Gta	p.L3850V	TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L4167V|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L3996V|TTN_ENST00000359218.5_Missense_Mutation_p.L3929V|TTN_ENST00000460472.2_Missense_Mutation_p.L3804V			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAGGCATTAGAATACCTTCT	0.428																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(12499-12501)Cta>Gta		titin							95.0	93.0	94.0					2																	179605461		1880	4100	5980	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179605461G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.11548C>G	2.37:g.179605461G>C	ENSP00000465570:p.Leu3850Val					TTN_ENST00000342175.6_Missense_Mutation_p.L3996V|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L3804V|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.L3929V|TTN_ENST00000591111.1_Missense_Mutation_p.L3850V	p.L4167V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		48	12723	-			3850					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.12499C>G		.	.	.	.	.	.	.	.	.	.	G	0.285	-0.983799	0.02180	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.73897	-0.67;-0.79;-0.78	5.32	0.281	0.15687	.	.	.	.	.	T	0.58337	0.2115	L	0.27053	0.805	0.09310	N	1	B;B;B	0.18166	0.026;0.026;0.026	B;B;B	0.18561	0.009;0.009;0.022	T	0.51204	-0.8735	9	0.87932	D	0	.	5.8118	0.18469	0.3916:0.0:0.4794:0.129	.	3804;3929;3996	D3DPF9;E7EQE6;E7ET18	.;.;.	V	3804;3996;3929;3804	ENSP00000434586:L3804V;ENSP00000340554:L3996V;ENSP00000352154:L3929V	ENSP00000340554:L3996V	L	-	1	2	TTN	179313706	0.029000	0.19370	0.000000	0.03702	0.002000	0.02628	0.605000	0.24179	0.052000	0.16007	-0.140000	0.14226	CTA		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		46	119	0	0	0	1	0	46	119				
KLHL2	11275	broad.mit.edu	37	4	166239115	166239115	+	Missense_Mutation	SNP	T	T	G			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr4:166239115T>G	ENST00000226725.6	+	14	2006	c.1747T>G	c.(1747-1749)Tat>Gat	p.Y583D	KLHL2_ENST00000421009.2_Missense_Mutation_p.Y486D|KLHL2_ENST00000538127.1_Missense_Mutation_p.Y495D|KLHL2_ENST00000514860.1_Missense_Mutation_p.Y587D|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000506761.1_Missense_Mutation_p.Y417D	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	583					protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		AGGGAGAAGTTATGCAGGTAA	0.368																																						ENST00000226725.6																			0				endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14						c.(1747-1749)Tat>Gat		kelch-like family member 2							142.0	138.0	139.0					4																	166239115		2203	4300	6503	SO:0001583	missense	11275				intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity	g.chr4:166239115T>G	AF059569	CCDS34094.1, CCDS54815.1, CCDS54816.1	4q21.2	2013-01-30	2013-01-30		ENSG00000109466	ENSG00000109466		"""Kelch-like"", ""BTB/POZ domain containing"""	6353	protein-coding gene	gene with protein product	"""mayven"""	605774	"""kelch (Drosophila)-like 2 (Mayven)"", ""kelch-like 2, Mayven (Drosophila)"""			10397770, 16035103	Standard	NM_007246		Approved	MAV	uc011cjm.2	O95198	OTTHUMG00000161294	ENST00000226725.6:c.1747T>G	4.37:g.166239115T>G	ENSP00000226725:p.Tyr583Asp					KLHL2_ENST00000506761.1_Missense_Mutation_p.Y417D|KLHL2_ENST00000514860.1_Missense_Mutation_p.Y587D|KLHL2_ENST00000538127.1_Missense_Mutation_p.Y495D|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000421009.2_Missense_Mutation_p.Y486D	p.Y583D	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN		GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)	14	2006	+	all_hematologic(180;0.221)		583					A6NCM7|B2RD18|B4DFH7|F5H6M3|Q8N484|Q8TBH5	Missense_Mutation	SNP	ENST00000226725.6	37	c.1747T>G	CCDS34094.1	.	.	.	.	.	.	.	.	.	.	T	16.35	3.098354	0.56183	.	.	ENSG00000109466	ENST00000226725;ENST00000514860;ENST00000538127;ENST00000421009;ENST00000506761	T;T;T;T;T	0.73897	-0.2;-0.2;-0.79;-0.2;-0.54	6.17	6.17	0.99709	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.84633	0.5515	M	0.61387	1.9	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.84046	0.0367	10	0.44086	T	0.13	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	587;583;583	B4DFH7;B2RD18;O95198	.;.;KLHL2_HUMAN	D	583;587;495;486;417	ENSP00000226725:Y583D;ENSP00000424198:Y587D;ENSP00000437526:Y495D;ENSP00000408974:Y486D;ENSP00000424108:Y417D	ENSP00000226725:Y583D	Y	+	1	0	KLHL2	166458565	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.655000	0.83696	2.371000	0.80710	0.533000	0.62120	TAT		0.368	KLHL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364439.1			44	57	0	0	0	1	0	44	57				
C2orf16	84226	broad.mit.edu	37	2	27804618	27804618	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr2:27804618C>T	ENST00000408964.2	+	1	5230	c.5179C>T	c.(5179-5181)Cgc>Tgc	p.R1727C	RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000556601.1_5'Flank|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000379717.1_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1727	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GAGGAGCCATCGCAGTCCCTC	0.562																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(5179-5181)Cgc>Tgc		chromosome 2 open reading frame 16							174.0	180.0	178.0					2																	27804618		1937	4136	6073	SO:0001583	missense	84226							g.chr2:27804618C>T	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.5179C>T	2.37:g.27804618C>T	ENSP00000386190:p.Arg1727Cys						p.R1727C	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	5230	+	Acute lymphoblastic leukemia(172;0.155)		1727			27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.		B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.5179C>T	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.517481	0.44763	.	.	ENSG00000221843	ENST00000408964	T	0.05513	3.43	3.95	3.95	0.45737	.	.	.	.	.	T	0.12603	0.0306	L	0.39898	1.24	0.09310	N	1	D	0.71674	0.998	P	0.53649	0.731	T	0.07385	-1.0775	9	0.66056	D	0.02	.	14.296	0.66314	0.0:1.0:0.0:0.0	.	1727	Q68DN1	CB016_HUMAN	C	1727	ENSP00000386190:R1727C	ENSP00000386190:R1727C	R	+	1	0	C2orf16	27658122	0.000000	0.05858	0.004000	0.12327	0.002000	0.02628	-0.313000	0.08103	2.491000	0.84063	0.462000	0.41574	CGC		0.562	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		216	259	0	0	0	1	0	216	259				
STAT3	6774	broad.mit.edu	37	17	40498723	40498723	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr17:40498723G>A	ENST00000264657.5	-	3	449	c.137C>T	c.(136-138)gCg>gTg	p.A46V	STAT3_ENST00000588969.1_Missense_Mutation_p.A46V|STAT3_ENST00000404395.3_Missense_Mutation_p.A46V|STAT3_ENST00000389272.3_5'UTR|STAT3_ENST00000585517.1_Missense_Mutation_p.A46V	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	46					acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|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)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.A46V(2)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		TTTGCTGGCCGCATATGCCCT	0.433									Hyperimmunoglobulin E Recurrent Infection Syndrome																													ENST00000264657.5																			2	Substitution - Missense(2)	p.A46V(2)	large_intestine(1)|prostate(1)	breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(136-138)gCg>gTg		signal transducer and activator of transcription 3 (acute-phase response factor)							158.0	158.0	158.0					17																	40498723		2203	4300	6503	SO:0001583	missense	6774	Hyperimmunoglobulin E Recurrent Infection Syndrome	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr17:40498723G>A	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"""SH2 domain containing"""	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.137C>T	17.37:g.40498723G>A	ENSP00000264657:p.Ala46Val					STAT3_ENST00000404395.3_Missense_Mutation_p.A46V|STAT3_ENST00000585517.1_Missense_Mutation_p.A46V|STAT3_ENST00000389272.3_5'UTR|STAT3_ENST00000588969.1_Missense_Mutation_p.A46V	p.A46V	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.139)	3	449	-		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)	46					A8K7B8|K7ENL3|O14916|Q9BW54	Missense_Mutation	SNP	ENST00000264657.5	37	c.137C>T	CCDS32656.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.848324	0.91277	.	.	ENSG00000168610	ENST00000264657;ENST00000404395	T;T	0.51325	0.71;0.71	5.66	5.66	0.87406	STAT transcription factor, protein interaction (4);	0.219698	0.46758	D	0.000267	T	0.57577	0.2063	L	0.42632	1.34	0.80722	D	1	D;D;D	0.60160	0.987;0.981;0.981	P;P;P	0.56865	0.785;0.808;0.808	T	0.47156	-0.9139	10	0.30078	T	0.28	-22.3549	20.1041	0.97884	0.0:0.0:1.0:0.0	.	46;46;46	P40763-2;P40763;B5BTZ6	.;STAT3_HUMAN;.	V	46	ENSP00000264657:A46V;ENSP00000384943:A46V	ENSP00000264657:A46V	A	-	2	0	STAT3	37752249	1.000000	0.71417	0.994000	0.49952	0.983000	0.72400	7.774000	0.85478	2.826000	0.97356	0.655000	0.94253	GCG		0.433	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150		6	494	0	0	0	1	0	6	494				
PPARA	5465	broad.mit.edu	37	22	46627789	46627789	+	Missense_Mutation	SNP	G	G	A	rs371950309		TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr22:46627789G>A	ENST00000396000.2	+	7	1077	c.812G>A	c.(811-813)cGc>cAc	p.R271H	PPARA_ENST00000434345.2_3'UTR|PPARA_ENST00000262735.5_Missense_Mutation_p.R271H|PPARA_ENST00000402126.1_Missense_Mutation_p.R271H|PPARA_ENST00000407236.1_Missense_Mutation_p.R271H			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	271					behavioral response to nicotine (GO:0035095)|cellular lipid metabolic process (GO:0044255)|circadian regulation of gene expression (GO:0032922)|enamel mineralization (GO:0070166)|epidermis development (GO:0008544)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of appetite (GO:0032099)|negative regulation of blood pressure (GO:0045776)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of glycolytic process (GO:0045820)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter (GO:0072366)|regulation of circadian rhythm (GO:0042752)|regulation of glycolytic by positive regulation of transcription from RNA polymerase II promoter (GO:0072363)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|lipid binding (GO:0008289)|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)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Indomethacin(DB00328)	GCGGAGGTCCGCATCTTTCAC	0.557																																						ENST00000396000.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(811-813)cGc>cAc		peroxisome proliferator-activated receptor alpha	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	80.0	62.0	68.0		812,812	5.5	1.0	22		68	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PPARA	NM_001001928.2,NM_005036.4	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	271/469,271/469	46627789	1,13005	2203	4300	6503	SO:0001583	missense	5465				fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding	g.chr22:46627789G>A	L02932	CCDS33669.1	22q12-q13.1	2013-01-16	2006-10-17		ENSG00000186951	ENSG00000186951		"""Nuclear hormone receptors"""	9232	protein-coding gene	gene with protein product		170998	"""peroxisome proliferative activated receptor, alpha"""	PPAR		7684926, 10591208	Standard	XM_005261655		Approved	hPPAR, NR1C1	uc003bgx.1	Q07869	OTTHUMG00000150443	ENST00000396000.2:c.812G>A	22.37:g.46627789G>A	ENSP00000379322:p.Arg271His					PPARA_ENST00000407236.1_Missense_Mutation_p.R271H|PPARA_ENST00000434345.2_3'UTR|PPARA_ENST00000402126.1_Missense_Mutation_p.R271H|PPARA_ENST00000262735.5_Missense_Mutation_p.R271H	p.R271H			Q07869	PPARA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	7	1077	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	271					B0G0X3|Q16241|Q6I9S0|Q92486|Q92689|Q9Y3N1	Missense_Mutation	SNP	ENST00000396000.2	37	c.812G>A	CCDS33669.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.725179	0.89298	0.0	1.16E-4	ENSG00000186951	ENST00000396000;ENST00000262735;ENST00000535613;ENST00000407236;ENST00000402126	T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46	5.48	5.48	0.80851	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	T	0.57636	0.2067	N	0.17312	0.475	0.80722	D	1	B;P	0.46020	0.194;0.871	B;P	0.46275	0.03;0.51	T	0.54450	-0.8292	10	0.20046	T	0.44	.	18.3591	0.90368	0.0:0.0:1.0:0.0	.	52;271	F5H1U1;Q07869	.;PPARA_HUMAN	H	271;271;52;271;271	ENSP00000379322:R271H;ENSP00000262735:R271H;ENSP00000385523:R271H;ENSP00000385246:R271H	ENSP00000262735:R271H	R	+	2	0	PPARA	45006453	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.438000	0.66550	2.576000	0.86940	0.655000	0.94253	CGC		0.557	PPARA-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318129.3	NM_001001928		4	112	0	0	0	1	0	4	112				
G2E3	55632	broad.mit.edu	37	14	31074772	31074772	+	Nonsense_Mutation	SNP	A	A	T			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr14:31074772A>T	ENST00000206595.6	+	11	1226	c.1072A>T	c.(1072-1074)Aaa>Taa	p.K358*	G2E3_ENST00000438909.2_Nonsense_Mutation_p.K312*|G2E3_ENST00000544007.1_Intron|G2E3_ENST00000553504.1_Nonsense_Mutation_p.K388*	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	358					apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						ATTCCAAATTAAAAAAAAAAC	0.274																																						ENST00000206595.6																			0				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1072-1074)Aaa>Taa		G2/M-phase specific E3 ubiquitin protein ligase							26.0	28.0	27.0					14																	31074772		2193	4291	6484	SO:0001587	stop_gained	55632				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr14:31074772A>T	AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"""Zinc fingers, PHD-type"""	20338	protein-coding gene	gene with protein product	"""PHD finger protein 7B"""	611299	"""KIAA1333"""	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.1072A>T	14.37:g.31074772A>T	ENSP00000206595:p.Lys358*					G2E3_ENST00000553504.1_Nonsense_Mutation_p.K388*|G2E3_ENST00000544007.1_Intron|G2E3_ENST00000438909.2_Nonsense_Mutation_p.K312*	p.K358*	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN			11	1226	+			358					Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Nonsense_Mutation	SNP	ENST00000206595.6	37	c.1072A>T	CCDS9638.1	.	.	.	.	.	.	.	.	.	.	A	48	14.922180	0.99815	.	.	ENSG00000092140	ENST00000206595;ENST00000438909;ENST00000553504	.	.	.	5.66	5.66	0.87406	.	0.397439	0.28895	N	0.013781	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.5027	14.7694	0.69665	1.0:0.0:0.0:0.0	.	.	.	.	X	358;312;388	.	ENSP00000206595:K358X	K	+	1	0	G2E3	30144523	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	3.378000	0.52432	2.284000	0.76573	0.528000	0.53228	AAA		0.274	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2	NM_017769		22	35	0	0	0	1	0	22	35				
KMT2A	4297	broad.mit.edu	37	11	118373222	118373222	+	Silent	SNP	C	C	G			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr11:118373222C>G	ENST00000389506.5	+	27	6606	c.6606C>G	c.(6604-6606)ccC>ccG	p.P2202P	KMT2A_ENST00000354520.4_Silent_p.P2164P|KMT2A_ENST00000534358.1_Silent_p.P2205P			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2202					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										CCTTATCACCCCAGCGGTCCA	0.498																																						ENST00000534358.1																			0											c.(6613-6615)ccC>ccG		lysine (K)-specific methyltransferase 2A							84.0	79.0	81.0					11																	118373222		2200	4296	6496	SO:0001819	synonymous_variant	4297							g.chr11:118373222C>G	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.6606C>G	11.37:g.118373222C>G						KMT2A_ENST00000354520.4_Silent_p.P2164P|KMT2A_ENST00000389506.5_Silent_p.P2202P	p.P2205P	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					27	6638	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	ENST00000389506.5	37	c.6615C>G	CCDS31686.1																																																																																				0.498	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		4	130	0	0	0	1	0	4	130				
LOC101243545	101243545	broad.mit.edu	37	3	161147301	161147301	+	lincRNA	SNP	A	A	G			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr3:161147301A>G	ENST00000473595.1	+	0	1350				RP11-3P17.5_ENST00000602890.1_lincRNA	NR_102265.1																						ACACCTTTCAACACTGCCTTC	0.552																																						ENST00000473595.1																			0																				41.0	51.0	47.0					3																	161147301		1429	2603	4032			0							g.chr3:161147301A>G																													3.37:g.161147301A>G						RP11-3P17.5_ENST00000602890.1_lincRNA		NR_102265.1						0	1350	+									RNA	SNP	ENST00000473595.1	37																																																																																						0.552	RP11-3P17.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000353185.1			5	161	0	0	0	1	0	5	161				
TRIM49C	642612	broad.mit.edu	37	11	89774252	89774252	+	Missense_Mutation	SNP	G	G	A	rs201409537		TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr11:89774252G>A	ENST00000448984.1	+	8	1222	c.893G>A	c.(892-894)aGt>aAt	p.S298N	TRIM49C_ENST00000432771.1_Intron	NM_001195234.1	NP_001182163.1	P0CI26	TR49C_HUMAN	tripartite motif containing 49C	298	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.S298N(4)		endometrium(3)|kidney(1)|lung(4)	8						GAAGCCAACAGTGATATCTTT	0.323																																						ENST00000448984.1																			4	Substitution - Missense(4)	p.S298N(4)	endometrium(2)|kidney(2)	endometrium(3)|kidney(1)|lung(4)	8						c.(892-894)aGt>aAt		tripartite motif containing 49C																																				SO:0001583	missense	642612					intracellular	zinc ion binding	g.chr11:89774252G>A	BC126470	CCDS53694.1	11q14.3	2014-02-17	2012-05-18	2012-05-18	ENSG00000204449	ENSG00000204449		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	38877	protein-coding gene	gene with protein product			"""tripartite motif containing 49-like 2"""	TRIM49L2			Standard	NM_001195234		Approved		uc010rua.2	P0CI26		ENST00000448984.1:c.893G>A	11.37:g.89774252G>A	ENSP00000388299:p.Ser298Asn					TRIM49C_ENST00000432771.1_Intron	p.S298N	NM_001195234.1	NP_001182163.1	P0CI26	T49L2_HUMAN			8	1222	+			298			B30.2/SPRY.		A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Missense_Mutation	SNP	ENST00000448984.1	37	c.893G>A	CCDS53694.1	.	.	.	.	.	.	.	.	.	.	g	0.625	-0.819420	0.02776	.	.	ENSG00000204449	ENST00000448984	T	0.04809	3.55	0.823	-0.634	0.11516	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.04452	0.0122	L	0.52206	1.635	0.09310	N	1	B	0.12013	0.005	B	0.14023	0.01	T	0.43605	-0.9381	8	.	.	.	.	3.2016	0.06651	0.4432:0.0:0.5568:0.0	rs672762;rs9666958;rs16912727;rs672762	298	P0CI26	T49L2_HUMAN	N	298	ENSP00000388299:S298N	.	S	+	2	0	TRIM49L2	89413900	0.000000	0.05858	0.001000	0.08648	0.034000	0.12701	-1.058000	0.03482	-0.239000	0.09710	0.305000	0.20034	AGT		0.323	TRIM49C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395455.1	NM_001195234		5	83	0	0	0	1	0	5	83				
ARHGAP29	9411	broad.mit.edu	37	1	94651006	94651006	+	Silent	SNP	T	T	G			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr1:94651006T>G	ENST00000260526.6	-	17	1994	c.1812A>C	c.(1810-1812)acA>acC	p.T604T	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	604					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTGACATCAATGTTTTCTTAA	0.348																																						ENST00000260526.6																			0				NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(1810-1812)acA>acC		Rho GTPase activating protein 29							128.0	120.0	123.0					1																	94651006		2203	4300	6503	SO:0001819	synonymous_variant	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94651006T>G		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.1812A>C	1.37:g.94651006T>G						ARHGAP29_ENST00000482481.1_5'UTR	p.T604T	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	17	1994	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	604					O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Silent	SNP	ENST00000260526.6	37	c.1812A>C	CCDS748.1																																																																																				0.348	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		36	92	0	0	0	1	0	36	92				
GPER1	2852	broad.mit.edu	37	7	1131651	1131651	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr7:1131651T>C	ENST00000297469.3	+	2	978	c.287T>C	c.(286-288)cTg>cCg	p.L96P	GPER1_ENST00000401670.1_Missense_Mutation_p.L96P|C7orf50_ENST00000397100.2_Intron|GPER1_ENST00000397092.1_Missense_Mutation_p.L96P|C7orf50_ENST00000357429.6_Intron|GPER1_ENST00000397088.3_Missense_Mutation_p.L96P|C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000397098.3_Intron	NM_001505.2	NP_001496.1	Q99527	GPER1_HUMAN	G protein-coupled estrogen receptor 1	96					apoptotic chromosome condensation (GO:0030263)|cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucose stimulus (GO:0071333)|cellular response to mineralocorticoid stimulus (GO:0071389)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytosolic calcium ion homeostasis (GO:0051480)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA metabolic process (GO:0051053)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte activation (GO:0002695)|negative regulation of lipid biosynthetic process (GO:0051055)|neuronal action potential (GO:0019228)|nuclear fragmentation involved in apoptotic nuclear change (GO:0030264)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of gene expression (GO:0010628)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of insulin secretion (GO:0032024)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vasodilation (GO:0045909)|steroid hormone mediated signaling pathway (GO:0043401)	axon (GO:0030424)|axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|dendritic spine head (GO:0044327)|dendritic spine membrane (GO:0032591)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|keratin filament (GO:0045095)|mitochondrial membrane (GO:0031966)|neuronal postsynaptic density (GO:0097481)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	chromatin binding (GO:0003682)|estrogen receptor activity (GO:0030284)|G-protein coupled receptor activity (GO:0004930)|mineralocorticoid receptor activity (GO:0017082)|steroid binding (GO:0005496)										ATCCCCGACCTGTACTTCATC	0.577																																						ENST00000397092.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	13						c.(286-288)cTg>cCg									124.0	107.0	113.0					7																	1131651		2202	4300	6502	SO:0001583	missense	0					endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:1131651T>C	U63917	CCDS5322.1	7p22	2013-08-14	2007-07-03	2013-08-14	ENSG00000164850	ENSG00000164850			4485	protein-coding gene	gene with protein product		601805	"""G protein-coupled receptor 30"""	CMKRL2, GPR30, GPER		9479505, 17655271	Standard	NM_001098201		Approved	FEG-1, GPCR-Br, LERGU, LERGU2, DRY12, LyGPR, CEPR	uc003skb.2	Q99527	OTTHUMG00000023680	ENST00000297469.3:c.287T>C	7.37:g.1131651T>C	ENSP00000297469:p.Leu96Pro					C7orf50_ENST00000397100.2_Intron|C7orf50_ENST00000357429.6_Intron|C7orf50_ENST00000397098.3_Intron|GPER_ENST00000397088.3_Missense_Mutation_p.L96P|GPER_ENST00000297469.3_Missense_Mutation_p.L96P|C7orf50_ENST00000488073.1_Intron|GPER_ENST00000401670.1_Missense_Mutation_p.L96P	p.L96P	NM_001039966.1	NP_001035055.1	Q99527	GPER_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)	3	1171	+		Ovarian(82;0.0253)	96					A8K6C5|B5BUJ1|O00143|O43494|Q13631|Q6FHL1|Q96F42|Q99981	Missense_Mutation	SNP	ENST00000297469.3	37	c.287T>C	CCDS5322.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.403932	0.83230	.	.	ENSG00000164850	ENST00000401670;ENST00000397092;ENST00000297469;ENST00000397088;ENST00000508834	T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75	5.48	5.48	0.80851	GPCR, rhodopsin-like superfamily (1);	0.074057	0.56097	D	0.000036	D	0.86020	0.5833	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87896	0.2687	10	0.87932	D	0	-15.0404	14.7598	0.69596	0.0:0.0:0.0:1.0	.	96	Q99527	GPER_HUMAN	P	96	ENSP00000385151:L96P;ENSP00000380281:L96P;ENSP00000297469:L96P;ENSP00000380277:L96P	ENSP00000297469:L96P	L	+	2	0	GPER	1098177	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.482000	0.81143	2.089000	0.63090	0.523000	0.50628	CTG		0.577	GPER1-030	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060001.1	NM_001039966		39	65	0	0	0	1	0	39	65				
ATRX	546	broad.mit.edu	37	X	76909614	76909614	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chrX:76909614G>A	ENST00000373344.5	-	14	4505	c.4291C>T	c.(4291-4293)Caa>Taa	p.Q1431*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.Q1393*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1431					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						GAATCTTCTTGAACCTTAATA	0.353			"""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.(4291-4293)Caa>Taa		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						256.0	216.0	230.0					X																	76909614		2203	4295	6498	SO:0001587	stop_gained	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:76909614G>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.4291C>T	X.37:g.76909614G>A	ENSP00000362441:p.Gln1431*					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.Q1393*	p.Q1431*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			14	4505	-			1431					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.4291C>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	g	46	12.152583	0.99641	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	.	.	.	5.41	5.41	0.78517	.	0.153838	0.43919	D	0.000506	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-10.1277	18.0982	0.89497	0.0:0.0:1.0:0.0	.	.	.	.	X	1431;1393	.	ENSP00000362441:Q1431X	Q	-	1	0	ATRX	76796270	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	7.682000	0.84083	2.396000	0.81511	0.502000	0.49764	CAA		0.353	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		113	18	0	0	0	1	0	113	18				
ZNF878	729747	broad.mit.edu	37	19	12155757	12155757	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr19:12155757C>A	ENST00000547628.1	-	4	596	c.459G>T	c.(457-459)agG>agT	p.R153S	CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000602107.1_Missense_Mutation_p.R200S|CTD-2006C1.2_ENST00000591838.1_RNA	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	153					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AACTGGGAAACCTGAATGCTT	0.423																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(598-600)agG>agT		zinc finger protein 878							139.0	150.0	146.0					19																	12155757		2165	4283	6448	SO:0001583	missense	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155757C>A		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.459G>T	19.37:g.12155757C>A	ENSP00000447931:p.Arg153Ser					ZNF878_ENST00000547628.1_Missense_Mutation_p.R153S|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA	p.R200S			C9JN71	ZN878_HUMAN			5	599	-			153						Missense_Mutation	SNP	ENST00000547628.1	37	c.600G>T	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	c	0.119	-1.128634	0.01756	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.13901	2.55	1.25	-2.51	0.06365	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04588	0.0125	N	0.11427	0.14	0.09310	N	1	B	0.15141	0.012	B	0.18871	0.023	T	0.39840	-0.9594	9	0.02654	T	1	.	3.7988	0.08750	0.3827:0.4258:0.0:0.1915	.	153	C9JN71	ZN878_HUMAN	S	153;200	ENSP00000447931:R153S	ENSP00000447931:R153S	R	-	3	2	AC022415.4;ZNF878	12016757	0.000000	0.05858	0.001000	0.08648	0.669000	0.39330	-2.636000	0.00867	-1.408000	0.02040	0.299000	0.19835	AGG		0.423	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		5	356	1	0	0.000602214	1	0.000612597	5	356				
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	rs121913499		TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000446179.1_Missense_Mutation_p.R132G|IDH1_ENST00000345146.2_Missense_Mutation_p.R132G	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)Cgt>Ggt		isocitrate dehydrogenase 1 (NADP+), soluble							81.0	74.0	76.0					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113113G>C		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>G	2.37:g.209113113G>C	ENSP00000390265:p.Arg132Gly					IDH1_ENST00000446179.1_Missense_Mutation_p.R132G|IDH1_ENST00000345146.2_Missense_Mutation_p.R132G	p.R132G			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.394C>G	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286370	0.80803	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.96636	0.8902	H	0.99379	4.54	0.80722	D	1	D	0.57899	0.981	P	0.62813	0.907	D	0.98312	1.0524	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	G	132	ENSP00000260985:R132G;ENSP00000410513:R132G;ENSP00000390265:R132G;ENSP00000391075:R132G	ENSP00000260985:R132G	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			61	102	0	0	0	1	0	61	102				
LRRIQ1	84125	broad.mit.edu	37	12	85623368	85623368	+	Silent	SNP	C	C	T			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr12:85623368C>T	ENST00000393217.2	+	25	4957	c.4896C>T	c.(4894-4896)taC>taT	p.Y1632Y	LRRIQ1_ENST00000528777.3_3'UTR	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1632										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AATATACATACCAATGGCTTC	0.358																																						ENST00000393217.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(4894-4896)taC>taT		leucine-rich repeats and IQ motif containing 1							115.0	110.0	111.0					12																	85623368		1833	4087	5920	SO:0001819	synonymous_variant	84125							g.chr12:85623368C>T	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.4896C>T	12.37:g.85623368C>T						LRRIQ1_ENST00000528777.3_3'UTR	p.Y1632Y	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	25	4957	+			1632					Q567P4|Q9BS17|Q9HA36	Silent	SNP	ENST00000393217.2	37	c.4896C>T	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	C	7.878	0.729540	0.15507	.	.	ENSG00000133640	ENST00000526363	.	.	.	5.6	3.78	0.43462	.	.	.	.	.	T	0.59142	0.2172	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54662	-0.8260	4	.	.	.	.	9.0105	0.36137	0.0:0.7731:0.0:0.2269	.	.	.	.	I	53	.	.	T	+	2	0	LRRIQ1	84147499	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	0.751000	0.26348	0.841000	0.35020	0.650000	0.86243	ACC		0.358	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		62	118	0	0	0	1	0	62	118				
ASNSD1	54529	broad.mit.edu	37	2	190531397	190531397	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr2:190531397G>A	ENST00000260952.4	+	4	952	c.539G>A	c.(538-540)aGa>aAa	p.R180K	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	180	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			GGACTTTTCAGAATTGATCTT	0.363																																						ENST00000260952.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25						c.(538-540)aGa>aAa		asparagine synthetase domain containing 1							70.0	72.0	71.0					2																	190531397		2200	4294	6494	SO:0001583	missense	54529				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity	g.chr2:190531397G>A	AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.539G>A	2.37:g.190531397G>A	ENSP00000260952:p.Arg180Lys					ASNSD1_ENST00000607062.1_Intron	p.R180K	NM_019048.2	NP_061921.1	Q9NWL6	ASND1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)		4	952	+			180			Glutamine amidotransferase type-2.		D3DPH6|Q3LIC3|Q4ZG45	Missense_Mutation	SNP	ENST00000260952.4	37	c.539G>A	CCDS2300.1	.	.	.	.	.	.	.	.	.	.	G	7.552	0.662980	0.14710	.	.	ENSG00000138381	ENST00000260952;ENST00000420250	T;T	0.28666	1.6;1.6	6.07	1.76	0.24704	Glutamine amidotransferase, type II (1);	0.295605	0.47093	N	0.000248	T	0.16557	0.0398	N	0.25789	0.76	0.37765	D	0.926471	B	0.13145	0.007	B	0.09377	0.004	T	0.15521	-1.0434	10	0.09338	T	0.73	-15.7065	8.6149	0.33826	0.4908:0.0:0.5092:0.0	.	180	Q9NWL6	ASND1_HUMAN	K	180	ENSP00000260952:R180K;ENSP00000406790:R180K	ENSP00000260952:R180K	R	+	2	0	ASNSD1	190239642	1.000000	0.71417	0.973000	0.42090	0.836000	0.47400	2.031000	0.41117	0.277000	0.22141	0.655000	0.94253	AGA		0.363	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255919.3	NM_019048		5	231	0	0	0	1	0	5	231				
GH2	2689	broad.mit.edu	37	17	61958759	61958759	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr17:61958759C>T	ENST00000423893.2	-	2	192	c.131G>A	c.(130-132)cGt>cAt	p.R44H	GH2_ENST00000456543.2_Missense_Mutation_p.R44H|GH2_ENST00000332800.7_Missense_Mutation_p.R44H|GH2_ENST00000449787.2_Missense_Mutation_p.R44H			P01242	SOM2_HUMAN	growth hormone 2	44				Missing (in Ref. 12; AA sequence). {ECO:0000305}.	JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						GTACAGGCGACGGGCGCGGAG	0.572																																						ENST00000332800.7																			0				breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						c.(130-132)cGt>cAt		growth hormone 2							156.0	173.0	167.0					17																	61958759		2203	4300	6503	SO:0001583	missense	2689					extracellular region	hormone activity	g.chr17:61958759C>T	J03756	CCDS11647.1, CCDS11648.1, CCDS45757.1, CCDS45758.1	17q22-q24	2014-01-30						"""Endogenous ligands"""	4262	protein-coding gene	gene with protein product	"""placental-specific growth hormone"", ""placenta-specific growth hormone"""	139240				6306568	Standard	NM_002059		Approved	GH-V, GHV, GHL, hGH-V	uc002jcl.2	P01242		ENST00000423893.2:c.131G>A	17.37:g.61958759C>T	ENSP00000409294:p.Arg44His					GH2_ENST00000449787.2_Missense_Mutation_p.R44H|GH2_ENST00000456543.2_Missense_Mutation_p.R44H|GH2_ENST00000423893.2_Missense_Mutation_p.R44H	p.R44H	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN			2	264	-			44	Missing (in Ref. 6; AA sequence).				B1A4H5|B1A4H7|O14643|O14644|P09587	Missense_Mutation	SNP	ENST00000423893.2	37	c.131G>A	CCDS11647.1	.	.	.	.	.	.	.	.	.	.	c	0.004	-2.346492	0.00219	.	.	ENSG00000136487	ENST00000332800;ENST00000456543;ENST00000423893;ENST00000449787	T;T;T;T	0.38722	1.12;1.12;1.12;1.12	2.93	0.486	0.16836	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.177556	0.50627	N	0.000112	T	0.08044	0.0201	N	0.00197	-1.87	0.19775	N	0.999953	B;B;B;B;B	0.06786	0.0;0.0;0.001;0.001;0.0	B;B;B;B;B	0.08055	0.001;0.001;0.001;0.003;0.001	T	0.39522	-0.9610	10	0.07030	T	0.85	.	6.9777	0.24686	0.0:0.2083:0.0:0.7917	.	44;44;44;44;44	P01242;O14643;O14644;B1A4H7;B1A4H5	SOM2_HUMAN;.;.;.;.	H	44	ENSP00000333157:R44H;ENSP00000394122:R44H;ENSP00000409294:R44H;ENSP00000410618:R44H	ENSP00000333157:R44H	R	-	2	0	GH2	59312491	1.000000	0.71417	0.996000	0.52242	0.002000	0.02628	3.436000	0.52856	-0.043000	0.13513	-1.893000	0.00533	CGT		0.572	GH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417665.1	NM_002059		6	852	0	0	0	1	0	6	852				
KLHDC4	54758	broad.mit.edu	37	16	87782360	87782360	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr16:87782360G>A	ENST00000270583.5	-	5	483	c.425C>T	c.(424-426)gCc>gTc	p.A142V	KLHDC4_ENST00000347925.5_Missense_Mutation_p.A142V|KLHDC4_ENST00000353170.5_Missense_Mutation_p.A85V|RP11-278A23.2_ENST00000563036.1_RNA	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	142										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		GTTGGGAGAGGCAAACTCCCC	0.547																																						ENST00000270583.5																			0				breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(424-426)gCc>gTc		kelch domain containing 4							178.0	172.0	174.0					16																	87782360		2198	4300	6498	SO:0001583	missense	54758							g.chr16:87782360G>A	AK001742	CCDS10963.1, CCDS54050.1, CCDS54051.1	16q24	2008-02-05			ENSG00000104731	ENSG00000104731			25272	protein-coding gene	gene with protein product							Standard	NM_001184854		Approved	DKFZp434G0522	uc002fki.3	Q8TBB5	OTTHUMG00000137657	ENST00000270583.5:c.425C>T	16.37:g.87782360G>A	ENSP00000270583:p.Ala142Val					KLHDC4_ENST00000347925.5_Missense_Mutation_p.A142V|KLHDC4_ENST00000353170.5_Missense_Mutation_p.A85V	p.A142V	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0283)	5	483	-			142					D3DUN3|D3DUN4|D3DUN5|Q96F29|Q9BVN3	Missense_Mutation	SNP	ENST00000270583.5	37	c.425C>T	CCDS10963.1	.	.	.	.	.	.	.	.	.	.	G	33	5.255213	0.95336	.	.	ENSG00000104731	ENST00000270583;ENST00000347925;ENST00000353170	T;T;T	0.08720	3.78;3.06;3.61	4.97	4.97	0.65823	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.24198	0.0586	L	0.50333	1.59	0.80722	D	1	D;D;D	0.89917	0.985;1.0;1.0	P;D;D	0.85130	0.828;0.997;0.994	T	0.00402	-1.1762	10	0.38643	T	0.18	-8.8646	17.5767	0.87952	0.0:0.0:1.0:0.0	.	85;142;142	Q8TBB5-2;Q8TBB5-3;Q8TBB5	.;.;KLDC4_HUMAN	V	142;142;85	ENSP00000270583:A142V;ENSP00000325717:A142V;ENSP00000262530:A85V	ENSP00000270583:A142V	A	-	2	0	KLHDC4	86339861	1.000000	0.71417	0.951000	0.38953	0.967000	0.64934	8.891000	0.92485	2.450000	0.82876	0.561000	0.74099	GCC		0.547	KLHDC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269109.2	NM_017566		5	327	0	0	0	1	0	5	327				
RAD50	10111	broad.mit.edu	37	5	131915673	131915673	+	Missense_Mutation	SNP	G	G	A	rs28903088	byFrequency	TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr5:131915673G>A	ENST00000265335.6	+	5	1058	c.671G>A	c.(670-672)cGt>cAt	p.R224H	RAD50_ENST00000378823.3_Missense_Mutation_p.R85H|RAD50_ENST00000487596.1_3'UTR			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	224			R -> H (in dbSNP:rs28903088). {ECO:0000269|PubMed:14684699}.		cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGTGAGATTCGTGATCAGATT	0.348								Homologous recombination																														ENST00000378823.3																			0				breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36	GRCh37	CM033673	RAD50	M	rs28903088	c.(253-255)cGt>cAt	Homologous recombination	RAD50 homolog (S. cerevisiae)		G	HIS/ARG	0,4406		0,0,2203	102.0	108.0	106.0		671	4.1	1.0	5	dbSNP_125	106	8,8592	7.1+/-27.0	0,8,4292	yes	missense	RAD50	NM_005732.3	29	0,8,6495	AA,AG,GG		0.093,0.0,0.0615	possibly-damaging	224/1313	131915673	8,12998	2203	4300	6503	SO:0001583	missense	10111				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	g.chr5:131915673G>A	Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.671G>A	5.37:g.131915673G>A	ENSP00000265335:p.Arg224His					RAD50_ENST00000265335.6_Missense_Mutation_p.R224H|RAD50_ENST00000487596.1_3'UTR	p.R85H	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		5	1072	+		all_cancers(142;0.0368)|Breast(839;0.198)	224					B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	ENST00000265335.6	37	c.254G>A	CCDS34233.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003742	0.74932	0.0	9.3E-4	ENSG00000113522	ENST00000378823;ENST00000265335;ENST00000453394	T;T;T	0.08807	3.34;3.05;3.05	5.84	4.05	0.47172	.	0.122041	0.64402	D	0.000009	T	0.16981	0.0408	L	0.46157	1.445	0.48341	D	0.999639	D	0.89917	1.0	D	0.67725	0.953	T	0.00984	-1.1491	10	0.62326	D	0.03	-5.0874	6.1623	0.20370	0.3189:0.0:0.6811:0.0	rs28903088;rs28903088	224	Q92878	RAD50_HUMAN	H	85;224;224	ENSP00000368100:R85H;ENSP00000265335:R224H;ENSP00000400049:R224H	ENSP00000265335:R224H	R	+	2	0	RAD50	131943572	0.999000	0.42202	0.972000	0.41901	0.999000	0.98932	3.363000	0.52321	1.474000	0.48178	0.655000	0.94253	CGT		0.348	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732		90	192	0	0	0	1	0	90	192				
TMEM131	23505	broad.mit.edu	37	2	98409857	98409857	+	Splice_Site	SNP	C	C	G			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr2:98409857C>G	ENST00000186436.5	-	30	3774		c.e30+1			NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131							integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TGTGAACATACTTTCCTTCAG	0.403																																						ENST00000186436.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.e30+1		transmembrane protein 131							83.0	82.0	83.0					2																	98409857		1855	4091	5946	SO:0001630	splice_region_variant	23505					integral to membrane		g.chr2:98409857C>G	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.3545+1G>C	2.37:g.98409857C>G								NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN			30	3774	-									Splice_Site	SNP	ENST00000186436.5	37		CCDS46368.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599569	0.87055	.	.	ENSG00000075568	ENST00000186436;ENST00000409721	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2868	0.94082	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMEM131	97776289	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.238000	0.78173	2.885000	0.99019	0.655000	0.94253	.		0.403	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542	Intron	4	91	0	0	0	1	0	4	91				
C4orf19	55286	broad.mit.edu	37	4	37592609	37592609	+	Missense_Mutation	SNP	A	A	C			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr4:37592609A>C	ENST00000284437.6	+	3	1110	c.932A>C	c.(931-933)gAt>gCt	p.D311A	RELL1_ENST00000314117.4_3'UTR|RP11-36B15.1_ENST00000503034.1_RNA|C4orf19_ENST00000508175.1_Intron|C4orf19_ENST00000381980.4_Missense_Mutation_p.D311A	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	311										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						GAAGATTTGGATGAGACTGAT	0.552																																						ENST00000284437.6																			0				large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						c.(931-933)gAt>gCt		chromosome 4 open reading frame 19							58.0	61.0	60.0					4																	37592609		2203	4300	6503	SO:0001583	missense	55286							g.chr4:37592609A>C	BC037906	CCDS3442.1	4p14	2008-02-05			ENSG00000154274	ENSG00000154274			25618	protein-coding gene	gene with protein product						12477932	Standard	NM_001104629		Approved	FLJ11017	uc003gsw.4	Q8IY42	OTTHUMG00000128580	ENST00000284437.6:c.932A>C	4.37:g.37592609A>C	ENSP00000284437:p.Asp311Ala					RELL1_ENST00000314117.4_3'UTR|C4orf19_ENST00000381980.4_Missense_Mutation_p.D311A|C4orf19_ENST00000508175.1_Intron	p.D311A	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN			3	1110	+			311					Q9NV03	Missense_Mutation	SNP	ENST00000284437.6	37	c.932A>C	CCDS3442.1	.	.	.	.	.	.	.	.	.	.	A	19.32	3.804067	0.70682	.	.	ENSG00000154274	ENST00000381980;ENST00000284437	T;T	0.29917	1.55;1.55	5.15	5.15	0.70609	.	0.303544	0.28042	N	0.016821	T	0.45074	0.1324	L	0.55481	1.735	0.80722	D	1	D	0.63046	0.992	P	0.57101	0.813	T	0.43163	-0.9408	10	0.87932	D	0	-19.3095	13.9844	0.64324	1.0:0.0:0.0:0.0	.	311	Q8IY42	CD019_HUMAN	A	311	ENSP00000371408:D311A;ENSP00000284437:D311A	ENSP00000284437:D311A	D	+	2	0	C4orf19	37269004	1.000000	0.71417	0.104000	0.21259	0.690000	0.40134	5.815000	0.69215	2.288000	0.76882	0.482000	0.46254	GAT		0.552	C4orf19-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250432.1	NM_018302		49	78	0	0	0	1	0	49	78				
BAK1	578	broad.mit.edu	37	6	33543199	33543199	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr6:33543199G>A	ENST00000374467.3	-	4	474	c.226C>T	c.(226-228)Cgg>Tgg	p.R76W	BAK1_ENST00000442998.2_Missense_Mutation_p.R76W|BAK1_ENST00000360661.5_Missense_Mutation_p.R76W	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	76					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic process involved in patterning of blood vessels (GO:1902262)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|B cell negative selection (GO:0002352)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast apoptotic process (GO:0044346)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|limb morphogenesis (GO:0035108)|mitochondrial fusion (GO:0008053)|myeloid cell homeostasis (GO:0002262)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of gene expression (GO:0010629)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|post-embryonic camera-type eye morphogenesis (GO:0048597)|regulation of cell cycle (GO:0051726)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|release of cytochrome c from mitochondria (GO:0001836)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to fungus (GO:0009620)|response to gamma radiation (GO:0010332)|response to hydrogen peroxide (GO:0042542)|response to mycotoxin (GO:0010046)|response to organic cyclic compound (GO:0014070)|response to UV-C (GO:0010225)|thymocyte apoptotic process (GO:0070242)|vagina development (GO:0060068)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|pore complex (GO:0046930)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						GCGAGCTGCCGTCCCACCTGC	0.617																																						ENST00000374467.3																			0				large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						c.(226-228)Cgg>Tgg		BCL2-antagonist/killer 1							106.0	81.0	89.0					6																	33543199		2203	4300	6503	SO:0001583	missense	578				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|cellular response to UV|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria	integral to mitochondrial outer membrane|pore complex	metal ion binding|protein heterodimerization activity	g.chr6:33543199G>A	U23765	CCDS4781.1	6p21.31	2014-03-07			ENSG00000030110	ENSG00000030110			949	protein-coding gene	gene with protein product		600516		CDN1		7715730, 7715731	Standard	NM_001188		Approved	BCL2L7, BAK	uc003oes.3	Q16611	OTTHUMG00000014530	ENST00000374467.3:c.226C>T	6.37:g.33543199G>A	ENSP00000363591:p.Arg76Trp					BAK1_ENST00000360661.5_Missense_Mutation_p.R76W|BAK1_ENST00000442998.2_Missense_Mutation_p.R76W	p.R76W	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN			4	474	-			76					C0H5Y7|Q6I9T6|Q92533	Missense_Mutation	SNP	ENST00000374467.3	37	c.226C>T	CCDS4781.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079097	0.55753	.	.	ENSG00000030110	ENST00000374460;ENST00000374467;ENST00000442998;ENST00000360661	T;T;T	0.04654	3.58;3.58;3.58	4.41	2.63	0.31362	Apoptosis regulator, Bcl-2, BH3 motif, conserved site (1);	0.110712	0.39341	N	0.001388	T	0.06690	0.0171	M	0.64997	1.995	0.33612	D	0.603652	D;D	0.89917	1.0;1.0	D;D	0.81914	0.984;0.995	T	0.09640	-1.0665	10	0.87932	D	0	-19.7966	3.741	0.08530	0.2039:0.0:0.6032:0.1929	.	76;76	B4E0L2;Q16611	.;BAK_HUMAN	W	56;76;76;76	ENSP00000363591:R76W;ENSP00000391258:R76W;ENSP00000353878:R76W	ENSP00000353878:R76W	R	-	1	2	BAK1	33651177	0.936000	0.31750	0.523000	0.27875	0.957000	0.61999	1.834000	0.39171	0.517000	0.28361	0.543000	0.68304	CGG		0.617	BAK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040202.1	NM_001188		4	90	0	0	0	1	0	4	90				
TBC1D3	729873	broad.mit.edu	37	17	36358981	36358981	+	5'Flank	SNP	C	C	T			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr17:36358981C>T	ENST00000537432.1	-	0	0				RP11-1407O15.2_ENST00000312412.4_Missense_Mutation_p.R237H|RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.R82H			Q8IZP1	TBC3A_HUMAN	TBC1 domain family, member 3							plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	Breast(7;2.97e-12)	Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AACAGGTGTGCGGGCAAACTT	0.353																																						ENST00000312412.4																			0				kidney(1)|lung(3)	4						c.(709-711)cGc>cAc																																						SO:0001631	upstream_gene_variant	0							g.chr17:36358981C>T		CCDS45658.1	17q12	2014-09-16			ENSG00000274611	ENSG00000274419			19031	protein-coding gene	gene with protein product	"""prostate cancer gene 17"""	607741				12604796, 12359748, 16863688	Standard	NM_001123391		Approved	TBC1D3A, DKFZp434P2235, PRC17	uc002hoo.2	Q8IZP1	OTTHUMG00000188487		17.37:g.36358981C>T	Exception_encountered					RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.R82H	p.R237H							6	709	-								A6NGX2|A8K007|Q6DCB4|Q9H0B9|Q9UDD4	Missense_Mutation	SNP	ENST00000537432.1	37	c.710G>A	CCDS45658.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.973656	0.53720	.	.	ENSG00000174093	ENST00000544906;ENST00000520237;ENST00000312412;ENST00000518004	T;T;T;T	0.02763	4.17;4.17;4.17;4.17	2.51	2.51	0.30379	.	.	.	.	.	T	0.07954	0.0199	.	.	.	.	.	.	.	.	.	.	.	.	T	0.17899	-1.0354	5	0.56958	D	0.05	.	13.0172	0.58764	0.0:1.0:0.0:0.0	.	.	.	.	H	82;237;237;233	ENSP00000444117:R82H;ENSP00000428261:R237H;ENSP00000308540:R237H;ENSP00000428330:R233H	ENSP00000308540:R237H	R	-	2	0	RP11-1407O15.2	33612772	1.000000	0.71417	0.997000	0.53966	0.709000	0.40893	5.030000	0.64128	1.394000	0.46624	0.194000	0.17425	CGC		0.353	TBC1D3-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001123391		7	1060	0	0	0	1	0	7	1060				
UBE2NL	389898	broad.mit.edu	37	X	142967509	142967509	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chrX:142967509C>T	ENST00000370494.1	+	1	337	c.307C>T	c.(307-309)Cgc>Tgc	p.R103C		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like (gene/pseudogene)	103						extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)	p.R103C(1)		breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGCAGATCCGCACAGTTCT	0.423																																						ENST00000370494.1																			1	Substitution - Missense(1)	p.R103C(1)	large_intestine(1)	breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(307-309)Cgc>Tgc		ubiquitin-conjugating enzyme E2N-like							108.0	94.0	99.0					X																	142967509		2203	4300	6503	SO:0001583	missense	389898						acid-amino acid ligase activity	g.chrX:142967509C>T			Xq27.3	2014-06-11	2014-06-11		ENSG00000102069			"""Ubiquitin-conjugating enzymes E2"""	31710	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2N-like"""			20736409	Standard	NM_001012989		Approved		uc004fca.3	Q5JXB2	OTTHUMG00000022586	ENST00000370494.1:c.307C>T	X.37:g.142967509C>T	ENSP00000359525:p.Arg103Cys						p.R103C	NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN			1	337	+	Acute lymphoblastic leukemia(192;6.56e-05)		103					E9KL27	Missense_Mutation	SNP	ENST00000370494.1	37	c.307C>T	CCDS35420.1	.	.	.	.	.	.	.	.	.	.	C	3.542	-0.093443	0.07053	.	.	ENSG00000102069	ENST00000370494	T	0.39056	1.1	1.16	-0.908	0.10517	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.265427	0.19850	U	0.104652	T	0.49762	0.1576	M	0.92412	3.305	0.80722	D	1	P	0.35612	0.512	B	0.41466	0.358	T	0.44726	-0.9309	10	0.66056	D	0.02	11.1641	3.4429	0.07470	0.2395:0.5766:0.0:0.1839	.	103	Q5JXB2	UE2NL_HUMAN	C	103	ENSP00000359525:R103C	ENSP00000359525:R103C	R	+	1	0	UBE2NL	142795175	1.000000	0.71417	0.995000	0.50966	0.036000	0.12997	3.460000	0.53028	-0.490000	0.06707	-1.274000	0.01402	CGC		0.423	UBE2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058624.1	NM_001012989		4	110	0	0	0	1	0	4	110				
ZNF512B	57473	broad.mit.edu	37	20	62597735	62597735	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr20:62597735G>A	ENST00000450537.1	-	5	853	c.793C>T	c.(793-795)Ccg>Tcg	p.P265S	ZNF512B_ENST00000217130.3_Missense_Mutation_p.P265S|ZNF512B_ENST00000369888.1_Missense_Mutation_p.P265S			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	265					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TTGGTGACCGGCACAGACTTG	0.572																																						ENST00000450537.1																			0				NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33						c.(793-795)Ccg>Tcg		zinc finger protein 512B							380.0	396.0	391.0					20																	62597735		2203	4300	6503	SO:0001583	missense	57473				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:62597735G>A	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.793C>T	20.37:g.62597735G>A	ENSP00000393795:p.Pro265Ser					ZNF512B_ENST00000217130.3_Missense_Mutation_p.P265S|ZNF512B_ENST00000369888.1_Missense_Mutation_p.P265S	p.P265S			Q96KM6	Z512B_HUMAN			5	853	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		265					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.793C>T	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	G	3.396	-0.123279	0.06795	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.25414	1.8;1.8;1.8	4.55	0.0704	0.14378	.	0.871399	0.09535	N	0.788968	T	0.14056	0.0340	N	0.21448	0.665	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.31475	-0.9942	10	0.62326	D	0.03	-4.9126	1.5918	0.02656	0.1931:0.1639:0.4745:0.1684	.	265	Q96KM6	Z512B_HUMAN	S	265	ENSP00000358904:P265S;ENSP00000393795:P265S;ENSP00000217130:P265S	ENSP00000217130:P265S	P	-	1	0	ZNF512B	62068179	0.002000	0.14202	0.000000	0.03702	0.027000	0.11550	0.302000	0.19192	0.133000	0.18654	0.650000	0.86243	CCG		0.572	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		6	806	0	0	0	1	0	6	806				
LEKR1	389170	broad.mit.edu	37	3	156745897	156745897	+	Silent	SNP	T	T	C			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr3:156745897T>C	ENST00000470811.1	+	13	1797	c.462T>C	c.(460-462)tcT>tcC	p.S154S	LEKR1_ENST00000356539.4_Silent_p.S458S			Q6ZMV7	LEKR1_HUMAN	leucine, glutamate and lysine rich 1	154										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TACAGATATCTGACTTAATCA	0.343																																						ENST00000470811.1																			0				breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11						c.(460-462)tcT>tcC		leucine, glutamate and lysine rich 1							47.0	50.0	49.0					3																	156745897		2202	4300	6502	SO:0001819	synonymous_variant	389170							g.chr3:156745897T>C	AK131473	CCDS54660.1	3q25.31	2014-02-12	2008-02-21		ENSG00000197980	ENSG00000197980			33765	protein-coding gene	gene with protein product		613536					Standard	NM_001004316		Approved	FLJ16641	uc021xgh.1	Q6ZMV7	OTTHUMG00000160130	ENST00000470811.1:c.462T>C	3.37:g.156745897T>C						LEKR1_ENST00000356539.4_Silent_p.S458S	p.S154S			D3DNK7	D3DNK7_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		13	1797	+			0						Silent	SNP	ENST00000470811.1	37	c.462T>C																																																																																					0.343	LEKR1-010	KNOWN	upstream_ATG|basic	protein_coding	protein_coding	OTTHUMT00000351625.3	NM_001004316		39	58	0	0	0	1	0	39	58				
MXRA5	25878	broad.mit.edu	37	X	3235706	3235706	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chrX:3235706C>T	ENST00000217939.6	-	6	6170	c.6016G>A	c.(6016-6018)Gaa>Aaa	p.E2006K		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2006	Ig-like C2-type 4.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTCCGGTTTTCGTGCAGGGTG	0.622																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(6016-6018)Gaa>Aaa		matrix-remodelling associated 5							41.0	37.0	39.0					X																	3235706		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3235706C>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6016G>A	X.37:g.3235706C>T	ENSP00000217939:p.Glu2006Lys						p.E2006K	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			6	6170	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2006			Ig-like C2-type 4.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.6016G>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	c	9.939	1.216938	0.22373	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.78246	-1.16	3.55	0.47	0.16747	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.484707	0.14991	U	0.286696	T	0.66626	0.2808	L	0.39085	1.19	0.09310	N	1	P	0.49185	0.92	P	0.45639	0.488	T	0.56980	-0.7889	10	0.19590	T	0.45	.	7.6632	0.28415	0.0:0.6037:0.3042:0.0921	.	2006	Q9NR99	MXRA5_HUMAN	K	2006	ENSP00000217939:E2006K	ENSP00000217939:E2006K	E	-	1	0	MXRA5	3245706	0.623000	0.27094	0.665000	0.29768	0.427000	0.31564	0.246000	0.18160	0.008000	0.14787	-0.238000	0.12139	GAA		0.622	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		22	21	0	0	0	1	0	22	21				
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575|rs397516437		TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr17:7577548C>T	ENST00000269305.4	-	7	922	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000420246.2_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		420	Substitution - Missense(390)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)|Insertion - Frameshift(1)	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)	large_intestine(119)|lung(51)|breast(38)|ovary(29)|central_nervous_system(27)|upper_aerodigestive_tract(25)|stomach(25)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(22)|urinary_tract(14)|skin(9)|liver(7)|prostate(7)|biliary_tract(5)|bone(5)|pancreas(4)|soft_tissue(3)|vulva(2)|endometrium(2)|kidney(1)|cervix(1)|salivary_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010463|CM900210|CM920674	TP53	M	rs28934575	c.(733-735)Ggc>Agc	Other conserved DNA damage response genes	tumor protein p53		C	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	149.0	112.0	125.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	733,733,733,733,337,337,337	4.6	1.0	17	dbSNP_125	125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	56,56,56,56,56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	245/394,245/394,245/347,245/342,113/262,113/210,113/215	7577548	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577548C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.733G>A	17.37:g.7577548C>T	ENSP00000269305:p.Gly245Ser	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S	p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	865	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	245		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.733G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259904	0.95368	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99878	0.9942	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.976;0.992;0.999;0.999;1.0	D	0.96039	0.9023	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	rs28934575	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245S;ENSP00000352610:G245S;ENSP00000269305:G245S;ENSP00000398846:G245S;ENSP00000391127:G245S;ENSP00000391478:G245S;ENSP00000425104:G113S;ENSP00000423862:G152S	ENSP00000269305:G245S	G	-	1	0	TP53	7518273	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		104	5	0	0	0	1	0	104	5				
KRTAP10-1	386677	broad.mit.edu	37	21	45959819	45959819	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr21:45959819G>A	ENST00000400375.1	-	1	259	c.215C>T	c.(214-216)aCc>aTc	p.T72I	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	72	24 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						GCAGGAGCTGGTGCAGCCTGA	0.711																																						ENST00000400375.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						c.(214-216)aCc>aTc		keratin associated protein 10-1							44.0	51.0	49.0					21																	45959819		2197	4290	6487	SO:0001583	missense	386677					keratin filament		g.chr21:45959819G>A	AJ566380	CCDS42954.1	21q22.3	2007-10-05			ENSG00000215455	ENSG00000215455		"""Keratin associated proteins"""	22966	protein-coding gene	gene with protein product				KRTAP18-1			Standard	NM_198691		Approved	KAP10.1, KAP18.1	uc002zfh.1	P60331	OTTHUMG00000057627	ENST00000400375.1:c.215C>T	21.37:g.45959819G>A	ENSP00000383226:p.Thr72Ile					TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	p.T72I	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN			1	259	-			72			24 X 5 AA repeats of C-C-X(3).		Q0VAR0|Q0VAR1	Missense_Mutation	SNP	ENST00000400375.1	37	c.215C>T	CCDS42954.1	.	.	.	.	.	.	.	.	.	.	g	2.677	-0.276175	0.05679	.	.	ENSG00000215455	ENST00000400375;ENST00000545982	T	0.00856	5.61	2.87	0.849	0.18972	.	.	.	.	.	T	0.02571	0.0078	M	0.73962	2.25	0.09310	N	1	P	0.50369	0.934	P	0.50314	0.637	T	0.35748	-0.9776	9	0.66056	D	0.02	.	9.5849	0.39510	0.0:0.4182:0.5818:0.0	.	72	P60331	KR101_HUMAN	I	72	ENSP00000383226:T72I	ENSP00000383226:T72I	T	-	2	0	KRTAP10-1	44784247	0.000000	0.05858	0.165000	0.22776	0.527000	0.34593	-0.068000	0.11561	0.064000	0.16427	0.491000	0.48974	ACC		0.711	KRTAP10-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128030.1			5	212	0	0	0	1	0	5	212				
OR5T1	390155	broad.mit.edu	37	11	56043714	56043714	+	Silent	SNP	T	T	C			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr11:56043714T>C	ENST00000313033.2	+	1	686	c.600T>C	c.(598-600)tcT>tcC	p.S200S		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S200S(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TTGCTATTTCTTGTTCTGACA	0.398																																						ENST00000313033.2																			1	Substitution - coding silent(1)	p.S200S(1)	lung(1)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43						c.(598-600)tcT>tcC		olfactory receptor, family 5, subfamily T, member 1							236.0	224.0	228.0					11																	56043714		2201	4296	6497	SO:0001819	synonymous_variant	390155				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56043714T>C	AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"""GPCR / Class A : Olfactory receptors"""	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.600T>C	11.37:g.56043714T>C							p.S200S	NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN			1	686	+	Esophageal squamous(21;0.00448)		200					B2RNM9	Silent	SNP	ENST00000313033.2	37	c.600T>C	CCDS31525.1																																																																																				0.398	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	NM_001004745		171	234	0	0	0	1	0	171	234				
POLR1E	64425	broad.mit.edu	37	9	37500851	37500851	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr9:37500851G>A	ENST00000377798.4	+	10	1014	c.901G>A	c.(901-903)Gga>Aga	p.G301R	POLR1E_ENST00000377792.3_Missense_Mutation_p.G363R|POLR1E_ENST00000442009.2_Missense_Mutation_p.G231R	NM_022490.1	NP_071935.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide E, 53kDa	0					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		TCTGGGACCTGGAGTTCCCCA	0.483																																					Ovarian(116;843 1620 18506 32459 34463)	ENST00000377792.3																			0				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12						c.(1087-1089)Gga>Aga		polymerase (RNA) I polypeptide E, 53kDa							138.0	116.0	124.0					9																	37500851		2203	4300	6503	SO:0001583	missense	64425				rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr9:37500851G>A	AK091294	CCDS6611.1	9p13.1	2013-01-21	2006-03-09	2006-03-09	ENSG00000137054	ENSG00000137054		"""RNA polymerase subunits"""	17631	protein-coding gene	gene with protein product	"""RNA polymerase I associated factor 53"""		"""polymerase (RNA) I associated factor 1"""	PRAF1		8641287	Standard	XM_005251547		Approved	FLJ13390, PAF53, FLJ13970	uc003zzy.1	Q9GZS1	OTTHUMG00000019920	ENST00000377798.4:c.901G>A	9.37:g.37500851G>A	ENSP00000367029:p.Gly301Arg					POLR1E_ENST00000377798.4_Missense_Mutation_p.G301R|POLR1E_ENST00000442009.2_Missense_Mutation_p.G231R	p.G363R			Q9GZS1	RPA49_HUMAN		GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)	9	1375	+			363					O75395|Q5JTE3	Missense_Mutation	SNP	ENST00000377798.4	37	c.1087G>A	CCDS6611.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.855654	0.71834	.	.	ENSG00000137054	ENST00000377798;ENST00000442009;ENST00000377792	T;T;T	0.21031	2.03;2.03;2.03	5.59	5.59	0.84812	.	0.213327	0.49305	D	0.000146	T	0.41166	0.1147	L	0.59436	1.845	0.52501	D	0.99995	P;D;P	0.53745	0.934;0.962;0.642	P;P;P	0.61003	0.882;0.882;0.603	T	0.01537	-1.1330	10	0.33141	T	0.24	-10.7557	18.7303	0.91733	0.0:0.0:1.0:0.0	.	231;363;301	E7EX70;Q9GZS1;Q9GZS1-2	.;RPA49_HUMAN;.	R	301;231;363	ENSP00000367029:G301R;ENSP00000399887:G231R;ENSP00000367023:G363R	ENSP00000367023:G363R	G	+	1	0	POLR1E	37490851	1.000000	0.71417	0.842000	0.33263	0.314000	0.28054	7.083000	0.76859	2.793000	0.96121	0.561000	0.74099	GGA		0.483	POLR1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052464.1	NM_022490		43	48	0	0	0	1	0	43	48				
SLC1A6	6511	broad.mit.edu	37	19	15061177	15061177	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr19:15061177C>T	ENST00000221742.3	-	9	1532	c.1525G>A	c.(1525-1527)Gta>Ata	p.V509I	SLC1A6_ENST00000430939.2_Missense_Mutation_p.V445I|SLC1A6_ENST00000600144.1_Missense_Mutation_p.V431I	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	509					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.V509I(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						TCCCCCAGTACGTTGGTCATT	0.577																																						ENST00000430939.2																			1	Substitution - Missense(1)	p.V509I(1)	large_intestine(1)	breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1333-1335)Gta>Ata		solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	L-Glutamic Acid(DB00142)						56.0	53.0	54.0					19																	15061177		2203	4300	6503	SO:0001583	missense	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15061177C>T		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.1525G>A	19.37:g.15061177C>T	ENSP00000221742:p.Val509Ile					SLC1A6_ENST00000221742.3_Missense_Mutation_p.V509I|SLC1A6_ENST00000600144.1_Missense_Mutation_p.V431I	p.V445I			P48664	EAA4_HUMAN			9	1462	-			509					Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	c.1333G>A	CCDS12321.1	.	.	.	.	.	.	.	.	.	.	c	25.3	4.619932	0.87460	.	.	ENSG00000105143	ENST00000430939;ENST00000221742	T;T	0.67523	-0.27;-0.27	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.78830	0.4345	L	0.55213	1.73	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.954	T	0.80457	-0.1374	10	0.87932	D	0	-29.072	16.7235	0.85416	0.0:1.0:0.0:0.0	.	445;509	E7EV13;P48664	.;EAA4_HUMAN	I	445;509	ENSP00000409386:V445I;ENSP00000221742:V509I	ENSP00000221742:V509I	V	-	1	0	SLC1A6	14922177	1.000000	0.71417	0.929000	0.37066	0.613000	0.37349	7.604000	0.82830	2.555000	0.86185	0.544000	0.68410	GTA		0.577	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		33	66	0	0	0	1	0	33	66				
CPAMD8	27151	broad.mit.edu	37	19	17038819	17038819	+	Splice_Site	SNP	C	C	T			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr19:17038819C>T	ENST00000443236.1	-	25	3542	c.3511G>A	c.(3511-3513)Ggg>Agg	p.G1171R		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1124						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						ACAGACGCACCGATGATGGAG	0.637																																						ENST00000443236.1																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.e25+1		C3 and PZP-like, alpha-2-macroglobulin domain containing 8							41.0	48.0	46.0					19																	17038819		2045	4186	6231	SO:0001630	splice_region_variant	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17038819C>T	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.3511+1G>A	19.37:g.17038819C>T							p.G1171_splice	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			25	3542	-			1124					Q8NC09|Q9ULD7	Splice_Site	SNP	ENST00000443236.1	37	c.3511_splice	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.676759	0.47886	.	.	ENSG00000160111	ENST00000291440	.	.	.	3.02	3.02	0.34903	.	0.074140	0.53938	U	0.000044	D	0.83482	0.5264	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.87038	0.2139	8	.	.	.	.	13.9882	0.64348	0.0:1.0:0.0:0.0	.	1124	Q8IZJ3	CPMD8_HUMAN	R	1171	.	.	G	-	1	0	CPAMD8	16899819	1.000000	0.71417	0.030000	0.17652	0.011000	0.07611	6.465000	0.73538	1.237000	0.43756	0.655000	0.94253	GGG		0.637	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692	Missense_Mutation	43	66	0	0	0	1	0	43	66				
UGT2B15	7366	broad.mit.edu	37	4	69519890	69519890	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr4:69519890C>T	ENST00000338206.5	-	5	1187	c.1178G>A	c.(1177-1179)gGc>gAc	p.G393D		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	393					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)									Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	CAAGGGAATGCCCACCATAGG	0.463																																						ENST00000338206.5																			0											c.(1177-1179)gGc>gAc		UDP glucuronosyltransferase 2 family, polypeptide B15							184.0	180.0	181.0					4																	69519890		2203	4296	6499	SO:0001583	missense	7366				steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69519890C>T	AF180322	CCDS3524.1	4q13	2008-02-05	2005-07-20		ENSG00000196620	ENSG00000196620		"""UDP glucuronosyltransferases"""	12546	protein-coding gene	gene with protein product		600069	"""UDP glycosyltransferase 2 family, polypeptide B15"""			7835904	Standard	NM_001076		Approved	UGT2B8	uc021xow.1	P54855	OTTHUMG00000161507	ENST00000338206.5:c.1178G>A	4.37:g.69519890C>T	ENSP00000341045:p.Gly393Asp						p.G393D	NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN			5	1187	-			393					A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Missense_Mutation	SNP	ENST00000338206.5	37	c.1178G>A	CCDS3524.1	.	.	.	.	.	.	.	.	.	.	c	15.35	2.807789	0.50421	.	.	ENSG00000196620	ENST00000338206	T	0.63744	-0.06	2.57	2.57	0.30868	.	0.000000	0.64402	U	0.000001	T	0.79009	0.4374	H	0.97732	4.065	0.38628	D	0.951317	P	0.49253	0.921	P	0.51266	0.664	D	0.84686	0.0720	10	0.45353	T	0.12	.	10.831	0.46661	0.0:1.0:0.0:0.0	.	393	P54855	UDB15_HUMAN	D	393	ENSP00000341045:G393D	ENSP00000341045:G393D	G	-	2	0	UGT2B15	69202485	0.998000	0.40836	1.000000	0.80357	0.419000	0.31324	4.192000	0.58378	1.421000	0.47157	0.455000	0.32223	GGC		0.463	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365172.1	NM_001076		6	506	0	0	0	1	0	6	506				
ECT2L	345930	broad.mit.edu	37	6	139175261	139175261	+	Missense_Mutation	SNP	G	G	A	rs372903555		TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr6:139175261G>A	ENST00000423192.1	+	9	1329	c.1168G>A	c.(1168-1170)Gtg>Atg	p.V390M	ECT2L_ENST00000495970.1_3'UTR|ECT2L_ENST00000541398.1_Missense_Mutation_p.V321M|ECT2L_ENST00000367682.2_Missense_Mutation_p.V390M			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	390							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						AGGGGGTCACGTGGACTTCTT	0.448			"""N, Splice, Mis"""		ETP ALL								G|||	1	0.000199681	0.0	0.0	5008	,	,		16872	0.0		0.0	False		,,,				2504	0.001					ENST00000423192.1				Rec	yes		6	6q24.1	345930	"""N, Splice, Mis"""	epithelial cell transforming sequence 2 oncogene-like			L			ETP ALL		0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1168-1170)Gtg>Atg		epithelial cell transforming sequence 2 oncogene-like		G	MET/VAL,MET/VAL	0,3766		0,0,1883	197.0	193.0	194.0		1168,1168	4.8	1.0	6		194	1,8201		0,1,4100	no	missense,missense	ECT2L	NM_001077706.2,NM_001195037.2	21,21	0,1,5983	AA,AG,GG		0.0122,0.0,0.0084	possibly-damaging,possibly-damaging	390/905,390/905	139175261	1,11967	1883	4101	5984	SO:0001583	missense	345930				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:139175261G>A		CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"""Rho guanine nucleotide exchange factors"", ""F-boxes /  ""other"""""	21118	protein-coding gene	gene with protein product	"""lung specific F-box and DH domain containing protein"", ""F-box protein 49"""		"""chromosome 6 open reading frame 91"", ""epithelial cell transforming sequence 2 oncogene-like"""	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.1168G>A	6.37:g.139175261G>A	ENSP00000387388:p.Val390Met					ECT2L_ENST00000367682.2_Missense_Mutation_p.V390M|ECT2L_ENST00000495970.1_3'UTR|ECT2L_ENST00000541398.1_Missense_Mutation_p.V321M	p.V390M			Q008S8	ECT2L_HUMAN			9	1329	+			390					B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Missense_Mutation	SNP	ENST00000423192.1	37	c.1168G>A	CCDS43508.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.915643	0.52546	0.0	1.22E-4	ENSG00000203734	ENST00000423192;ENST00000367682;ENST00000541398	T;T;T	0.79554	-0.16;-0.16;-1.28	5.65	4.77	0.60923	.	0.175173	0.23644	U	0.046000	T	0.81602	0.4857	M	0.69823	2.125	0.29568	N	0.850156	D;D	0.71674	0.998;0.991	P;P	0.62014	0.897;0.636	T	0.76340	-0.2995	10	0.49607	T	0.09	4.0791	9.3203	0.37959	0.1575:0.0:0.8425:0.0	.	321;390	F5H7S9;Q008S8	.;ECT2L_HUMAN	M	390;390;321	ENSP00000387388:V390M;ENSP00000356655:V390M;ENSP00000442307:V321M	ENSP00000356655:V390M	V	+	1	0	ECT2L	139216954	0.996000	0.38824	0.966000	0.40874	0.972000	0.66771	2.577000	0.46042	2.674000	0.91012	0.655000	0.94253	GTG		0.448	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706		5	436	0	0	0	1	0	5	436				
DOCK6	57572	broad.mit.edu	37	19	11346350	11346350	+	Silent	SNP	G	G	T			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr19:11346350G>T	ENST00000294618.7	-	21	2489	c.2478C>A	c.(2476-2478)cgC>cgA	p.R826R	C19orf80_ENST00000591200.1_5'Flank|DOCK6_ENST00000319867.7_Silent_p.R130R|RN7SL298P_ENST00000581369.1_RNA	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	826			R -> C (in dbSNP:rs35881692).		blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GGCAGTGACCGCGGGCATCCT	0.617																																						ENST00000294618.7																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						c.(2476-2478)cgC>cgA		dedicator of cytokinesis 6							19.0	23.0	22.0					19																	11346350		2103	4228	6331	SO:0001819	synonymous_variant	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11346350G>T		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.2478C>A	19.37:g.11346350G>T						DOCK6_ENST00000319867.7_Silent_p.R130R	p.R826R	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN			21	2489	-			826		R -> C (in dbSNP:rs35881692).			A6H8X5|Q7Z7P4|Q9P2F2	Silent	SNP	ENST00000294618.7	37	c.2478C>A	CCDS45975.1																																																																																				0.617	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		3	38	1	0	1	1	1	3	38				
SETBP1	26040	broad.mit.edu	37	18	42532372	42532372	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr18:42532372G>A	ENST00000282030.5	+	4	3363	c.3067G>A	c.(3067-3069)Gca>Aca	p.A1023T		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1023						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TGGTAGGCCTGCAAAAACCAA	0.448									Schinzel-Giedion syndrome																													ENST00000282030.5																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104						c.(3067-3069)Gca>Aca		SET binding protein 1							85.0	76.0	79.0					18																	42532372		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42532372G>A	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.3067G>A	18.37:g.42532372G>A	ENSP00000282030:p.Ala1023Thr						p.A1023T	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	3363	+			1023					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.3067G>A	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	17.59	3.427734	0.62733	.	.	ENSG00000152217	ENST00000282030	D	0.92446	-3.04	5.82	5.82	0.92795	AT hook, DNA-binding motif (1);	0.000000	0.85682	D	0.000000	D	0.93387	0.7891	N	0.24115	0.695	0.51012	D	0.999904	D	0.89917	1.0	D	0.76575	0.988	D	0.93633	0.6958	10	0.52906	T	0.07	.	20.0893	0.97812	0.0:0.0:1.0:0.0	.	1023	Q9Y6X0	SETBP_HUMAN	T	1023	ENSP00000282030:A1023T	ENSP00000282030:A1023T	A	+	1	0	SETBP1	40786370	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.976000	0.88070	2.761000	0.94854	0.655000	0.94253	GCA		0.448	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		4	165	0	0	0	1	0	4	165				
THBS1	7057	broad.mit.edu	37	15	39885616	39885616	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr15:39885616C>T	ENST00000260356.5	+	19	3179	c.3014C>T	c.(3013-3015)gCt>gTt	p.A1005V	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1005	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		GAGTTTAATGCTGTGGACTTC	0.488																																						ENST00000260356.5																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(3013-3015)gCt>gTt		thrombospondin 1	Becaplermin(DB00102)						244.0	253.0	250.0					15																	39885616		2200	4297	6497	SO:0001583	missense	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39885616C>T		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.3014C>T	15.37:g.39885616C>T	ENSP00000260356:p.Ala1005Val						p.A1005V	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	19	3179	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	1005			TSP C-terminal.		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	c.3014C>T	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	C	33	5.289195	0.95517	.	.	ENSG00000137801	ENST00000260356	D	0.91180	-2.8	5.77	5.77	0.91146	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.35903	N	0.002903	D	0.93416	0.7900	L	0.47716	1.5	0.80722	D	1	D;D	0.71674	0.998;0.997	D;P	0.62955	0.909;0.827	D	0.93206	0.6596	10	0.56958	D	0.05	-17.4428	19.9729	0.97289	0.0:1.0:0.0:0.0	.	920;1005	B4E3J7;P07996	.;TSP1_HUMAN	V	1005	ENSP00000260356:A1005V	ENSP00000260356:A1005V	A	+	2	0	THBS1	37672908	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.814000	0.86154	2.714000	0.92807	0.655000	0.94253	GCT		0.488	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		9	667	0	0	0	1	0	9	667				
OR6B1	135946	broad.mit.edu	37	7	143701454	143701454	+	Missense_Mutation	SNP	G	G	A	rs541875791		TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr7:143701454G>A	ENST00000408922.2	+	1	433	c.365G>A	c.(364-366)cGg>cAg	p.R122Q		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					GCCTATGACCGGTATGTGGCC	0.522													G|||	1	0.000199681	0.0008	0.0	5008	,	,		23697	0.0		0.0	False		,,,				2504	0.0					ENST00000408922.2																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27						c.(364-366)cGg>cAg		olfactory receptor, family 6, subfamily B, member 1							100.0	104.0	103.0					7																	143701454		2168	4288	6456	SO:0001583	missense	135946				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143701454G>A		CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"""GPCR / Class A : Olfactory receptors"""	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.365G>A	7.37:g.143701454G>A	ENSP00000386151:p.Arg122Gln						p.R122Q	NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN			1	433	+	Melanoma(164;0.0783)		122					A4D2G2|B9EH47|Q6IFP6|Q96R38	Missense_Mutation	SNP	ENST00000408922.2	37	c.365G>A	CCDS43667.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995258	0.74703	.	.	ENSG00000221813	ENST00000408922	T	0.76968	-1.06	5.14	5.14	0.70334	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37483	U	0.002066	D	0.90635	0.7063	M	0.92784	3.345	0.45528	D	0.998481	D	0.89917	1.0	D	0.87578	0.998	D	0.92566	0.6062	10	0.87932	D	0	.	16.1397	0.81513	0.0:0.0:1.0:0.0	.	122	O95007	OR6B1_HUMAN	Q	122	ENSP00000386151:R122Q	ENSP00000386151:R122Q	R	+	2	0	OR6B1	143332387	1.000000	0.71417	0.939000	0.37840	0.235000	0.25334	6.491000	0.73649	2.671000	0.90904	0.563000	0.77884	CGG		0.522	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349566.1			4	178	0	0	0	1	0	4	178				
SEC22B	9554	broad.mit.edu	37	1	145109312	145109313	+	RNA	INS	-	-	A	rs9424678|rs11370361|rs142440425		TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr1:145109312_145109313insA	ENST00000453618.1	+	0	512							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											aaaccaaaaacaaaAAAAAAAG	0.416																																						ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)																																						9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145109312_145109313insA	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145109322_145109322dupA										O75396	SC22B_HUMAN			0	512	+								A8K1G0	RNA	INS	ENST00000453618.1	37																																																																																						0.416	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		3	6						3	6	---	---	---	---
ASXL2	55252	broad.mit.edu	37	2	26022304	26022306	+	In_Frame_Del	DEL	CTG	CTG	-	rs539079430		TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr2:26022304_26022306delCTG	ENST00000435504.4	-	5	644_646	c.351_353delCAG	c.(349-354)agcagt>agt	p.117_118SS>S	ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000336112.4_In_Frame_Del_p.89_90SS>S|ASXL2_ENST00000497092.1_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	117	Ser-rich.				adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCACCATCACTGCTGCTGCTGC	0.463																																						ENST00000435504.4																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33						c.(349-354)agt>ag		additional sex combs like 2 (Drosophila)																																				SO:0001651	inframe_deletion	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:26022304_26022306delCTG			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.351_353delCAG	2.37:g.26022313_26022315delCTG	ENSP00000391447:p.Ser118del					ASXL2_ENST00000336112.4_In_Frame_Del_p.SS89del|ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000497092.1_5'UTR	p.SS117del			Q76L83	ASXL2_HUMAN			5	644_646	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		117			Ser-rich.		Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	In_Frame_Del	DEL	ENST00000435504.4	37	c.351_353delCAG																																																																																					0.463	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		7	305						7	305	---	---	---	---
RFTN1	23180	broad.mit.edu	37	3	16411682	16411685	+	Frame_Shift_Del	DEL	CTGT	CTGT	-			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr3:16411682_16411685delCTGT	ENST00000334133.4	-	6	1200_1203	c.928_931delACAG	c.(928-933)acagtgfs	p.TV310fs	RFTN1_ENST00000483671.1_5'UTR|RFTN1_ENST00000432519.1_Frame_Shift_Del_p.TV274fs	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	310					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						AAACCGCTCACTGTCTGGCCATTC	0.51																																						ENST00000334133.4																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						c.(928-933)tgfs		raftlin, lipid raft linker 1																																				SO:0001589	frameshift_variant	23180					plasma membrane		g.chr3:16411682_16411685delCTGT	D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"""raft-linking protein"""					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.928_931delACAG	3.37:g.16411682_16411685delCTGT	ENSP00000334153:p.Thr310fs					RFTN1_ENST00000483671.1_5'UTR|RFTN1_ENST00000432519.1_Frame_Shift_Del_p.TV274fs	p.TV310fs	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN			6	1200_1203	-			310					Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Frame_Shift_Del	DEL	ENST00000334133.4	37	c.928_931delACAG	CCDS33712.1																																																																																				0.510	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	NM_015150		124	370						124	370	---	---	---	---
HLA-DRB6	3128	broad.mit.edu	37	6	32521843	32521844	+	RNA	DEL	CT	CT	-	rs67101368		TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr6:32521843_32521844delCT	ENST00000411500.1	-	0	740					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		AGAAGGCTACCTCCTGTAAGAA	0.356																																						ENST00000411500.1																			0																																																			0							g.chr6:32521843_32521844delCT	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32521843_32521844delCT								NR_001298.1						0	740	-									RNA	DEL	ENST00000411500.1	37																																																																																						0.356	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		4	6						4	6	---	---	---	---
MTHFD1L	25902	broad.mit.edu	37	6	151358163	151358164	+	Frame_Shift_Ins	INS	-	-	A			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr6:151358163_151358164insA	ENST00000367321.3	+	26	3031_3032	c.2757_2758insA	c.(2758-2760)aaafs	p.K920fs	AL133260.1_ENST00000408542.1_RNA	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	920	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)	p.L914fs*14(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		ACCAACCTGACAAAAAAGGTGT	0.48																																						ENST00000367321.3																			1	Deletion - Frameshift(1)	p.L914fs*14(1)	ovary(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29						c.(2755-2760)gaaaaafs		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like																																				SO:0001589	frameshift_variant	25902				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity	g.chr6:151358163_151358164insA	BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"""10-formyl-THF synthetase"", ""mitochondrial C1-tetrahydrofolate synthase"", ""monofunctional C1-tetrahydrofolate synthase, mitochondrial"""	611427	"""formyltetrahydrofolate synthetase domain containing 1"""	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.2763dupA	6.37:g.151358169_151358169dupA	ENSP00000356290:p.Lys920fs						p.EK919fs	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)	26	3031_3032	+		Ovarian(120;0.128)	919			Formyltetrahydrofolate synthetase.		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Frame_Shift_Ins	INS	ENST00000367321.3	37	c.2757_2758insA	CCDS5228.1																																																																																				0.480	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440		7	189						7	189	---	---	---	---
ALOX5	240	broad.mit.edu	37	10	45941070	45941072	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr10:45941070_45941072delAAG	ENST00000374391.2	+	14	2013_2015	c.1960_1962delAAG	c.(1960-1962)aagdel	p.K656del	RP11-67C2.2_ENST00000435635.1_RNA|ALOX5_ENST00000542434.1_In_Frame_Del_p.K599del	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	656	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	TGAGCGCAACAAGAAGAAGCAGC	0.547																																						ENST00000374391.2																			0				breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(1960-1962)del		arachidonate 5-lipoxygenase	Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)																																			SO:0001651	inframe_deletion	240				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr10:45941070_45941072delAAG	J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"""Arachidonate lipoxygenases"""	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.1960_1962delAAG	10.37:g.45941076_45941078delAAG	ENSP00000363512:p.Lys656del					RP11-67C2.2_ENST00000435635.1_RNA|ALOX5_ENST00000542434.1_In_Frame_Del_p.K599del	p.K656del	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN			14	2013_2015	+		Lung SC(717;0.0257)	656			Lipoxygenase.		B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	In_Frame_Del	DEL	ENST00000374391.2	37	c.1960_1962delAAG	CCDS7212.1																																																																																				0.547	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047780.1			57	146						57	146	---	---	---	---
GLUD1P2	100381203	broad.mit.edu	37	10	48980053	48980053	+	RNA	DEL	A	A	-	rs531900667	byFrequency	TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr10:48980053delA	ENST00000594520.1	+	0	864									glutamate dehydrogenase 1 pseudogene 2																		aaaattatacaaaaaaaaaaG	0.443													|||unknown(HR)	7	0.00139776	0.0023	0.0014	5008	,	,		18299	0.002		0.001	False		,,,				2504	0.0					ENST00000594520.1																			0																																																			0							g.chr10:48980053delA	X66313, X66315, X66319		10q11.22	2013-02-15	2010-01-18	2010-01-18	ENSG00000227781				4337	pseudogene	pseudogene			"""glutamate dehydrogenase pseudogene 2"""	GLUDP2		8486350	Standard			Approved				OTTHUMG00000018156		10.37:g.48980053delA														0	864	+									RNA	DEL	ENST00000594520.1	37																																																																																						0.443	GLUD1P2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000461126.1	NG_016765		4	7						4	7	---	---	---	---
C12orf29	91298	broad.mit.edu	37	12	88442074	88442076	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr12:88442074_88442076delGTT	ENST00000356891.3	+	7	1056_1058	c.853_855delGTT	c.(853-855)gttdel	p.V285del		NM_001009894.2	NP_001009894.2	Q8N999	CL029_HUMAN	chromosome 12 open reading frame 29	285					hematopoietic progenitor cell differentiation (GO:0002244)					large_intestine(3)|lung(1)|ovary(1)	5						TTCAAGACCAGTTATTATCAACA	0.335																																						ENST00000356891.3																			0				large_intestine(3)|lung(1)|ovary(1)	5						c.(853-855)del		chromosome 12 open reading frame 29																																				SO:0001651	inframe_deletion	91298							g.chr12:88442074_88442076delGTT	AL137488	CCDS31866.1	12q21.32	2012-05-30			ENSG00000133641	ENSG00000133641			25322	protein-coding gene	gene with protein product						14702039	Standard	NM_001009894		Approved	DKFZp434N2030	uc001tao.3	Q8N999	OTTHUMG00000169870	ENST00000356891.3:c.853_855delGTT	12.37:g.88442074_88442076delGTT	ENSP00000349358:p.Val285del						p.V285del	NM_001009894.2	NP_001009894.2	Q8N999	CL029_HUMAN			7	1056_1058	+			285					Q569K5|Q6AWA8|Q6PEK5|Q8IYQ5|Q9NT75	In_Frame_Del	DEL	ENST00000356891.3	37	c.853_855delGTT	CCDS31866.1																																																																																				0.335	C12orf29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406335.1	NM_001009894		52	119						52	119	---	---	---	---
MAP3K9	4293	broad.mit.edu	37	14	71275774	71275776	+	In_Frame_Del	DEL	CCT	CCT	-	rs397840789|rs201322413		TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr14:71275774_71275776delCCT	ENST00000554752.2	-	1	112_114	c.113_115delAGG	c.(112-117)gaggcg>gcg	p.E38del	RP6-65G23.3_ENST00000557691.1_lincRNA|MAP3K9_ENST00000381250.4_In_Frame_Del_p.E38del|MAP3K9_ENST00000555993.2_In_Frame_Del_p.E38del	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	38	Ala-rich.|Poly-Glu.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.E38delE(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCCGCCGCCGcctcctcctcctc	0.773																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			1	Deletion - In frame(1)	p.E38delE(1)	ovary(1)	breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.(112-117)gcg>g		mitogen-activated protein kinase kinase kinase 9																																				SO:0001651	inframe_deletion	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71275774_71275776delCCT	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.113_115delAGG	14.37:g.71275783_71275785delCCT	ENSP00000451612:p.Glu38del					MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del|MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del	p.EA38del			P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	1	112_114	-			38			Ala-rich.|Poly-Glu.		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	In_Frame_Del	DEL	ENST00000554752.2	37	c.113_115delAGG																																																																																					0.773	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			2	4						2	4	---	---	---	---
WFIKKN2	124857	broad.mit.edu	37	17	48917204	48917204	+	Frame_Shift_Del	DEL	C	C	-			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr17:48917204delC	ENST00000311378.4	+	2	1083	c.555delC	c.(553-555)agcfs	p.S185fs	WFIKKN2_ENST00000426127.1_Frame_Shift_Del_p.S92fs|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	185					muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CCAACACCAGCCCCCCACCAC	0.627																																						ENST00000311378.4																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29						c.(553-555)agfs		WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2							87.0	83.0	84.0					17																	48917204		2203	4300	6503	SO:0001589	frameshift_variant	124857					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	g.chr17:48917204delC	AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30916	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20B"""	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.555delC	17.37:g.48917204delC	ENSP00000311184:p.Ser185fs					WFIKKN2_ENST00000426127.1_Frame_Shift_Del_p.S92fs	p.S185fs	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		2	1083	+			185					Q6UXZ9	Frame_Shift_Del	DEL	ENST00000311378.4	37	c.555delC	CCDS11575.1																																																																																				0.627	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	NM_175575		29	73						29	73	---	---	---	---
KCTD1	284252	broad.mit.edu	37	18	24128223	24128225	+	Intron	DEL	TCC	TCC	-	rs143299522	byFrequency	TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr18:24128223_24128225delTCC	ENST00000408011.3	-	1	545				KCTD1_ENST00000579973.1_Intron|KCTD1_ENST00000317932.7_Intron|KCTD1_ENST00000580059.1_5'Flank|KCTD1_ENST00000417602.1_In_Frame_Del_p.92_93EE>E	NM_001136205.2	NP_001129677.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1						negative regulation of transcription, DNA-templated (GO:0045892)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			ctcctcctcttcctcctcctcct	0.655														134	0.0267572	0.0673	0.0086	5008	,	,		6875	0.0		0.008	False		,,,				2504	0.0317					ENST00000417602.1																			0				endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12						c.(274-279)gaa>ga		potassium channel tetramerization domain containing 1			,,	187,3139		43,101,1519					,,	-0.1	1.0		dbSNP_134	4	78,6614		13,52,3281	no	intron,coding,intron	KCTD1	NM_198991.2,NM_001142730.1,NM_001136205.1	,,	56,153,4800	A1A1,A1R,RR		1.1656,5.6224,2.6452	,,	,,		265,9753				SO:0001627	intron_variant	284252				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity	g.chr18:24128223_24128225delTCC	AF542549	CCDS11888.1	18q11.2	2013-09-20	2013-06-20		ENSG00000134504	ENSG00000134504			18249	protein-coding gene	gene with protein product		613420	"""potassium channel tetramerisation domain containing 1"""	C18orf5			Standard	NM_001142730		Approved		uc010xbj.3	Q719H9	OTTHUMG00000131947	ENST00000408011.3:c.14+629GGA>-	18.37:g.24128232_24128234delTCC						KCTD1_ENST00000408011.3_Intron|KCTD1_ENST00000317932.7_Intron|KCTD1_ENST00000579973.1_Intron	p.EE94del	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)		1	275_277	-	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		0			BTB.		A8K1F5	In_Frame_Del	DEL	ENST00000408011.3	37	c.276_278delGGA	CCDS11888.1																																																																																				0.655	KCTD1-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000446265.1	XM_209091		2	4						2	4	---	---	---	---
MN1	4330	broad.mit.edu	37	22	28195603	28195605	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr22:28195603_28195605delTGC	ENST00000302326.4	-	1	1881_1883	c.927_929delGCA	c.(925-930)cagcat>cat	p.Q309del		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	309					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GAACACACCAtgctgctgctgct	0.64			T	ETV6	"""AML, meningioma"""																																	ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		"""AML, meningioma"""		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						c.(925-930)cat>ca		meningioma (disrupted in balanced translocation) 1				53,2821		10,33,1394						2.8	0.9			2	95,5897		15,65,2916	no	coding	MN1	NM_002430.2		25,98,4310	A1A1,A1R,RR		1.5854,1.8441,1.6693				148,8718				SO:0001651	inframe_deletion	4330						binding	g.chr22:28195603_28195605delTGC	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.927_929delGCA	22.37:g.28195612_28195614delTGC	ENSP00000304956:p.Gln309del						p.QH309del	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	1881_1883	-			309					A9Z1V9	In_Frame_Del	DEL	ENST00000302326.4	37	c.927_929delGCA	CCDS42998.1																																																																																				0.640	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		2	4						2	4	---	---	---	---
