#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
ARHGEF26	26084	broad.mit.edu	37	3	153840317	153840317	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-AB20-01A-12D-A41K-08	TCGA-EJ-AB20-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42430570-8b50-44a2-88bc-57b1aab9fad7	aad0c72f-096f-4d7b-8cf7-46c5ab0939d5	g.chr3:153840317C>T	ENST00000356448.4	+	2	820	c.536C>T	c.(535-537)gCc>gTc	p.A179V	ARHGEF26-AS1_ENST00000467912.1_RNA|ARHGEF26-AS1_ENST00000480639.1_RNA|ARHGEF26_ENST00000465817.1_Missense_Mutation_p.A179V|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.A179V|ARHGEF26-AS1_ENST00000491862.1_RNA|ARHGEF26-AS1_ENST00000479270.1_RNA	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	179					endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						AATGGCCTTGCCGCTAATAAC	0.652																																					GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)	ENST00000356448.4																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						c.(535-537)gCc>gTc		Rho guanine nucleotide exchange factor (GEF) 26							17.0	19.0	18.0					3																	153840317		1893	4102	5995	SO:0001583	missense	26084				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity	g.chr3:153840317C>T	BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24490	protein-coding gene	gene with protein product	"""Src homology 3 domain-containing guanine nucleotide exchange factor"""					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.536C>T	3.37:g.153840317C>T	ENSP00000348828:p.Ala179Val					ARHGEF26_ENST00000465817.1_Missense_Mutation_p.A179V|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.A179V	p.A179V	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN			2	820	+			179					B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Missense_Mutation	SNP	ENST00000356448.4	37	c.536C>T	CCDS46938.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.445720	0.25987	.	.	ENSG00000114790	ENST00000356448;ENST00000465093;ENST00000465817	T;T;T	0.57595	0.39;0.39;2.18	4.64	1.64	0.23874	.	0.876760	0.09991	N	0.729743	T	0.28134	0.0694	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.22382	-1.0218	10	0.16420	T	0.52	-4.7862	7.2571	0.26183	0.0:0.7009:0.1387:0.1605	.	179;179	E9PBD0;Q96DR7	.;ARHGQ_HUMAN	V	179	ENSP00000348828:A179V;ENSP00000423418:A179V;ENSP00000423295:A179V	ENSP00000348828:A179V	A	+	2	0	ARHGEF26	155323007	0.000000	0.05858	0.006000	0.13384	0.105000	0.19272	0.036000	0.13819	0.380000	0.24823	0.561000	0.74099	GCC		0.652	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353287.3	NM_015595		3	36	0	0	0	1	0	3	36				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-EJ-AB20-01A-12D-A41K-08	TCGA-EJ-AB20-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42430570-8b50-44a2-88bc-57b1aab9fad7	aad0c72f-096f-4d7b-8cf7-46c5ab0939d5	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			3	27	0	0	0	1	0	3	27				
MS4A13	503497	broad.mit.edu	37	11	60285574	60285574	+	Silent	SNP	C	C	T			TCGA-EJ-AB20-01A-12D-A41K-08	TCGA-EJ-AB20-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42430570-8b50-44a2-88bc-57b1aab9fad7	aad0c72f-096f-4d7b-8cf7-46c5ab0939d5	g.chr11:60285574C>T	ENST00000527948.1	+	2	576	c.18C>T	c.(16-18)caC>caT	p.H6H	MS4A13_ENST00000378185.2_Silent_p.H6H|MS4A13_ENST00000378186.2_Silent_p.H6H|MS4A13_ENST00000437058.2_Silent_p.H6H			Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 13	0						integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(1)|lung(2)|skin(2)	8						GCATCTTTCACATTTTCATGT	0.313																																						ENST00000378186.2																			0				endometrium(3)|large_intestine(1)|lung(2)|skin(2)	8						c.(16-18)caC>caT		membrane-spanning 4-domains, subfamily A, member 13							116.0	113.0	114.0					11																	60285574		2203	4300	6503	SO:0001819	synonymous_variant	503497					integral to membrane		g.chr11:60285574C>T	AY324188	CCDS31571.1, CCDS41653.1, CCDS60801.1	11q12.2	2005-12-05	2005-12-05		ENSG00000204979	ENSG00000204979			16674	protein-coding gene	gene with protein product							Standard	NM_001012417		Approved		uc001nps.3	Q5J8X5	OTTHUMG00000167615	ENST00000527948.1:c.18C>T	11.37:g.60285574C>T						MS4A13_ENST00000437058.2_Silent_p.H6H|MS4A13_ENST00000378185.2_Silent_p.H6H|MS4A13_ENST00000527948.1_Silent_p.H6H	p.H6H	NM_001012417.2	NP_001012417.2	Q5J8X5	M4A13_HUMAN			3	341	+			6					E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Silent	SNP	ENST00000527948.1	37	c.18C>T																																																																																					0.313	MS4A13-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000395411.1	NM_001012417		9	37	0	0	0	1	0	9	37				
SYNM	23336	broad.mit.edu	37	15	99672880	99672880	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-AB20-01A-12D-A41K-08	TCGA-EJ-AB20-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42430570-8b50-44a2-88bc-57b1aab9fad7	aad0c72f-096f-4d7b-8cf7-46c5ab0939d5	g.chr15:99672880G>C	ENST00000336292.6	+	5	4432	c.4312G>C	c.(4312-4314)Ggc>Cgc	p.G1438R	RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000328642.7_Intron|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000560674.1_Intron	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1439	Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						CCCTGAGCTAGGCAAGTTAGC	0.512																																					Pancreas(125;1071 1762 21750 40003 40381)	ENST00000336292.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						c.(4312-4314)Ggc>Cgc		synemin, intermediate filament protein							186.0	189.0	188.0					15																	99672880		2092	4211	6303	SO:0001583	missense	23336				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	g.chr15:99672880G>C	AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"""A-kinase anchor proteins"", ""Intermediate filaments type IV"""	24466	protein-coding gene	gene with protein product	"""synemin alpha"", ""synemin beta"""	606087	"""desmuslin"""	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000336292.6:c.4312G>C	15.37:g.99672880G>C	ENSP00000336775:p.Gly1438Arg					SYNM_ENST00000328642.7_Intron|SYNM_ENST00000560674.1_Intron|SYNM_ENST00000561323.1_3'UTR	p.G1438R	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN			5	4432	+			1439			Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail.		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP	ENST00000336292.6	37	c.4312G>C		.	.	.	.	.	.	.	.	.	.	G	6.723	0.502047	0.12822	.	.	ENSG00000182253	ENST00000336292	T	0.16897	2.31	5.52	3.66	0.41972	.	.	.	.	.	T	0.07369	0.0186	.	.	.	0.19945	N	0.999947	B	0.19073	0.033	B	0.20577	0.03	T	0.39820	-0.9595	8	0.05959	T	0.93	.	8.1413	0.31084	0.146:0.1305:0.7234:0.0	.	1439	O15061	SYNEM_HUMAN	R	1438	ENSP00000336775:G1438R	ENSP00000336775:G1438R	G	+	1	0	SYNM	97490403	0.029000	0.19370	0.001000	0.08648	0.016000	0.09150	1.575000	0.36493	0.698000	0.31739	0.655000	0.94253	GGC		0.512	SYNM-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_145728		4	157	0	0	0	1	0	4	157				
ANO1	55107	broad.mit.edu	37	11	70009403	70009403	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-AB20-01A-12D-A41K-08	TCGA-EJ-AB20-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42430570-8b50-44a2-88bc-57b1aab9fad7	aad0c72f-096f-4d7b-8cf7-46c5ab0939d5	g.chr11:70009403C>T	ENST00000355303.5	+	19	2212	c.1907C>T	c.(1906-1908)cCg>cTg	p.P636L	ANO1_ENST00000531349.1_Missense_Mutation_p.P345L|ANO1_ENST00000538023.1_Missense_Mutation_p.P636L|ANO1_ENST00000530676.1_Missense_Mutation_p.P490L|ANO1_ENST00000398543.2_Missense_Mutation_p.P490L|ANO1_ENST00000316296.5_Missense_Mutation_p.P578L	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	636					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	GTTGGACGCCCGGGCGACTAC	0.532																																						ENST00000355303.5																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						c.(1906-1908)cCg>cTg		anoctamin 1, calcium activated chloride channel							60.0	63.0	62.0					11																	70009403		1943	4123	6066	SO:0001583	missense	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:70009403C>T	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.1907C>T	11.37:g.70009403C>T	ENSP00000347454:p.Pro636Leu					ANO1_ENST00000316296.5_Missense_Mutation_p.P578L|ANO1_ENST00000538023.1_Missense_Mutation_p.P636L|ANO1_ENST00000530676.1_Missense_Mutation_p.P490L|ANO1_ENST00000398543.2_Missense_Mutation_p.P490L|ANO1_ENST00000531349.1_Missense_Mutation_p.P345L	p.P636L	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN			19	2212	+			636					A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	ENST00000355303.5	37	c.1907C>T	CCDS44663.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.768117	0.69878	.	.	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000316296;ENST00000530676;ENST00000531349	T;T;T;T;T;T	0.73681	-0.34;-0.43;-0.77;-0.35;-0.77;-0.44	5.08	5.08	0.68730	.	0.056642	0.64402	D	0.000001	D	0.90707	0.7084	H	0.95187	3.635	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;0.999	D	0.93376	0.6739	9	.	.	.	.	18.8833	0.92365	0.0:1.0:0.0:0.0	.	345;578;636	E9PNA7;Q5XXA6-3;Q5XXA6	.;.;ANO1_HUMAN	L	636;636;490;394;578;490;345	ENSP00000347454:P636L;ENSP00000444689:P636L;ENSP00000381551:P490L;ENSP00000319477:P578L;ENSP00000435797:P490L;ENSP00000432843:P345L	.	P	+	2	0	ANO1	69687051	1.000000	0.71417	0.952000	0.39060	0.200000	0.23975	6.972000	0.76110	2.535000	0.85469	0.655000	0.94253	CCG		0.532	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		15	48	0	0	0	1	0	15	48				
UGT1A7	54577	broad.mit.edu	37	2	234591304	234591304	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-AB20-01A-12D-A41K-08	TCGA-EJ-AB20-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42430570-8b50-44a2-88bc-57b1aab9fad7	aad0c72f-096f-4d7b-8cf7-46c5ab0939d5	g.chr2:234591304G>A	ENST00000373426.3	+	1	721	c.721G>A	c.(721-723)Gca>Aca	p.A241T	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron	NM_019077.2	NP_061950.2	Q9HAW7	UD17_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A7	241					cellular glucuronidation (GO:0052695)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|excretion (GO:0007588)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	drug binding (GO:0008144)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|retinoic acid binding (GO:0001972)			NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)	CCCTGTCACGGCATATGATCT	0.413																																						ENST00000373426.3																			0				NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33						c.(721-723)Gca>Aca									202.0	212.0	208.0					2																	234591304		2203	4300	6503	SO:0001583	missense	0							g.chr2:234591304G>A	U39570	CCDS2506.1	2q37	2010-03-05	2005-07-20		ENSG00000244122	ENSG00000244122		"""UDP glucuronosyltransferases"""	12539	other	complex locus constituent		606432	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 11434514	Standard	NM_019077		Approved	UGT1G		Q9HAW7	OTTHUMG00000059004	ENST00000373426.3:c.721G>A	2.37:g.234591304G>A	ENSP00000362525:p.Ala241Thr					UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron	p.A241T	NM_019077.2	NP_061950.2				Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	1	721	+		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)						B8K293|O00473	Missense_Mutation	SNP	ENST00000373426.3	37	c.721G>A	CCDS2506.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.835794	0.32421	.	.	ENSG00000244122	ENST00000373426	T	0.06371	3.31	4.16	-3.33	0.04958	.	.	.	.	.	T	0.04048	0.0113	L	0.31578	0.945	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.12837	0.008;0.008	T	0.44345	-0.9334	9	0.66056	D	0.02	.	1.7841	0.03038	0.171:0.3672:0.238:0.2239	.	241;241	Q5DSZ7;Q9HAW7	.;UD17_HUMAN	T	241	ENSP00000362525:A241T	ENSP00000362525:A241T	A	+	1	0	UGT1A7	234256043	0.000000	0.05858	0.000000	0.03702	0.151000	0.21798	-2.710000	0.00818	-0.390000	0.07774	0.485000	0.47835	GCA		0.413	UGT1A7-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130614.1	NM_019077		5	309	0	0	0	1	0	5	309				
NUMA1	4926	broad.mit.edu	37	11	71727189	71727189	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-AB20-01A-12D-A41K-08	TCGA-EJ-AB20-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42430570-8b50-44a2-88bc-57b1aab9fad7	aad0c72f-096f-4d7b-8cf7-46c5ab0939d5	g.chr11:71727189G>A	ENST00000393695.3	-	15	1691	c.1360C>T	c.(1360-1362)Cgg>Tgg	p.R454W	RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Missense_Mutation_p.R454W	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						AAGTGGCCCCGCTCAGCAAGC	0.577			T	RARA	APL						OREG0021187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(1360-1362)Cgg>Tgg		nuclear mitotic apparatus protein 1							70.0	69.0	69.0					11																	71727189		2200	4293	6493	SO:0001583	missense	0				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71727189G>A	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.1360C>T	11.37:g.71727189G>A	ENSP00000377298:p.Arg454Trp		OREG0021187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1132	RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000358965.6_Missense_Mutation_p.R454W|NUMA1_ENST00000351960.6_Intron	p.R454W	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			15	1691	-			454						Missense_Mutation	SNP	ENST00000393695.3	37	c.1360C>T	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.496279	0.26861	.	.	ENSG00000137497	ENST00000358965;ENST00000393695;ENST00000359652;ENST00000542977;ENST00000537217	T;T;T;T	0.52526	2.34;2.42;1.22;0.66	5.8	4.87	0.63330	.	0.253459	0.32802	N	0.005630	T	0.57592	0.2064	L	0.59436	1.845	0.09310	N	1	D;D;D	0.76494	0.999;0.994;0.999	P;P;P	0.55667	0.781;0.721;0.781	T	0.55270	-0.8167	10	0.87932	D	0	.	12.8894	0.58064	0.0:0.0:0.5623:0.4377	.	460;454;454	Q4LE64;Q14980-2;Q14980	.;.;NUMA1_HUMAN	W	454;454;17;454;454	ENSP00000351851:R454W;ENSP00000377298:R454W;ENSP00000444880:R454W;ENSP00000442936:R454W	ENSP00000351851:R454W	R	-	1	2	NUMA1	71404837	0.756000	0.28383	0.041000	0.18516	0.004000	0.04260	1.736000	0.38187	1.408000	0.46895	0.655000	0.94253	CGG		0.577	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			8	87	0	0	0	1	0	8	87				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-EJ-AB20-01A-12D-A41K-08	TCGA-EJ-AB20-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42430570-8b50-44a2-88bc-57b1aab9fad7	aad0c72f-096f-4d7b-8cf7-46c5ab0939d5	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)	p.S167S(19)	lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(499-501)agT>agC		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501T>C	9.37:g.20414343A>G						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	p.S167S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	787	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	55	0	0	0	1	0	4	55				
ATG10	83734	broad.mit.edu	37	5	81548458	81548458	+	Silent	SNP	G	G	A			TCGA-EJ-AB20-01A-12D-A41K-08	TCGA-EJ-AB20-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42430570-8b50-44a2-88bc-57b1aab9fad7	aad0c72f-096f-4d7b-8cf7-46c5ab0939d5	g.chr5:81548458G>A	ENST00000282185.3	+	6	825	c.531G>A	c.(529-531)aaG>aaA	p.K177K	ATG10_ENST00000458350.3_Silent_p.K177K|ATG10_ENST00000513634.1_Silent_p.K177K|ATG10_ENST00000514253.2_Intron	NM_031482.4	NP_113670.1	Q9H0Y0	ATG10_HUMAN	autophagy related 10	177					autophagy (GO:0006914)|autophagy in response to ER overload (GO:0034263)|positive regulation of protein modification process (GO:0031401)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|intracellular (GO:0005622)	Atg12 ligase activity (GO:0019777)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(2)	9		Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30)		CTGTATTAAAGAATTCTCAGA	0.343																																						ENST00000282185.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(2)	9						c.(529-531)aaG>aaA		autophagy related 10							71.0	73.0	72.0					5																	81548458		2203	4300	6503	SO:0001819	synonymous_variant	83734				autophagy in response to ER overload|positive regulation of protein modification process|protein lipidation|protein modification by small protein conjugation|protein transport	cytoplasm	Atg12 ligase activity|protein binding	g.chr5:81548458G>A	AK024016	CCDS4057.1	5q14.1	2014-02-12	2012-06-06	2005-09-11	ENSG00000152348	ENSG00000152348			20315	protein-coding gene	gene with protein product		610800	"""APG10 autophagy 10-like (S. cerevisiae)"", ""ATG10 autophagy related 10 homolog (S. cerevisiae)"""	APG10L			Standard	NM_031482		Approved	DKFZP586I0418, FLJ13954	uc003khr.3	Q9H0Y0	OTTHUMG00000119041	ENST00000282185.3:c.531G>A	5.37:g.81548458G>A						ATG10_ENST00000514253.2_Intron|ATG10_ENST00000513634.1_Silent_p.K177K|ATG10_ENST00000458350.3_Silent_p.K177K	p.K177K	NM_031482.4	NP_113670.1	Q9H0Y0	ATG10_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30)	6	825	+		Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135)	177					B2RE09|Q6PIX1|Q9H842	Silent	SNP	ENST00000282185.3	37	c.531G>A	CCDS4057.1																																																																																				0.343	ATG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239252.2	NM_001131028		4	55	0	0	0	1	0	4	55				
KDM7A	80853	broad.mit.edu	37	7	139810907	139810907	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-AB20-01A-12D-A41K-08	TCGA-EJ-AB20-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42430570-8b50-44a2-88bc-57b1aab9fad7	aad0c72f-096f-4d7b-8cf7-46c5ab0939d5	g.chr7:139810907A>C	ENST00000397560.2	-	11	1513	c.1416T>G	c.(1414-1416)atT>atG	p.I472M	JHDM1D_ENST00000006967.5_Missense_Mutation_p.I472M	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		472					histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					CTATTGCTCGAATTACTTTAG	0.323																																						ENST00000397560.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22						c.(1414-1416)atT>atG									117.0	110.0	112.0					7																	139810907		1822	4078	5900	SO:0001583	missense	0				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr7:139810907A>C																												ENST00000397560.2:c.1416T>G	7.37:g.139810907A>C	ENSP00000380692:p.Ile472Met					JHDM1D_ENST00000006967.5_Missense_Mutation_p.I472M	p.I472M	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN			11	1513	-	Melanoma(164;0.0142)		472					A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Missense_Mutation	SNP	ENST00000397560.2	37	c.1416T>G	CCDS43658.1	.	.	.	.	.	.	.	.	.	.	A	18.54	3.646605	0.67358	.	.	ENSG00000006459	ENST00000397560;ENST00000006967	T;T	0.56776	0.44;0.44	5.3	2.94	0.34122	.	0.000000	0.85682	D	0.000000	T	0.60971	0.2310	M	0.72353	2.195	0.58432	D	0.999995	D	0.61697	0.99	P	0.54629	0.757	T	0.64158	-0.6473	10	0.87932	D	0	-17.8045	9.1482	0.36946	0.8512:0.0:0.1488:0.0	.	472	Q6ZMT4	KDM7_HUMAN	M	472	ENSP00000380692:I472M;ENSP00000006967:I472M	ENSP00000006967:I472M	I	-	3	3	JHDM1D	139457376	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.393000	0.44442	0.965000	0.38133	0.533000	0.62120	ATT		0.323	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1			3	53	0	0	0	1	0	3	53				
FYN	2534	broad.mit.edu	37	6	111995769	111995769	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-AB20-01A-12D-A41K-08	TCGA-EJ-AB20-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42430570-8b50-44a2-88bc-57b1aab9fad7	aad0c72f-096f-4d7b-8cf7-46c5ab0939d5	g.chr6:111995769C>A	ENST00000354650.3	-	13	1944	c.1338G>T	c.(1336-1338)aaG>aaT	p.K446N	FYN_ENST00000368682.3_Missense_Mutation_p.K443N|FYN_ENST00000368678.4_Missense_Mutation_p.K443N|FYN_ENST00000229470.5_Missense_Mutation_p.K394N|FYN_ENST00000368667.2_Missense_Mutation_p.K446N|FYN_ENST00000356013.2_Missense_Mutation_p.K391N|FYN_ENST00000229471.4_Missense_Mutation_p.K391N|FYN_ENST00000538466.1_Missense_Mutation_p.K443N	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN proto-oncogene, Src family tyrosine kinase	446	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activated T cell proliferation (GO:0050798)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular response to peptide hormone stimulus (GO:0071375)|dendrite morphogenesis (GO:0048813)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|feeding behavior (GO:0007631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|leukocyte migration (GO:0050900)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein localization to nucleus (GO:1900182)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|glycoprotein binding (GO:0001948)|growth factor receptor binding (GO:0070851)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	ACACGTCAGACTTGATTGTGA	0.537																																						ENST00000354650.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1336-1338)aaG>aaT		FYN oncogene related to SRC, FGR, YES	Dasatinib(DB01254)						148.0	145.0	146.0					6																	111995769		2203	4300	6503	SO:0001583	missense	2534				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity	g.chr6:111995769C>A	AK056699	CCDS5094.1, CCDS5095.1, CCDS5096.1	6q21	2014-06-25	2014-06-25		ENSG00000010810	ENSG00000010810		"""SH2 domain containing"""	4037	protein-coding gene	gene with protein product		137025	"""FYN oncogene related to SRC, FGR, YES"""			3526330	Standard	NM_002037		Approved	SYN, SLK, MGC45350	uc003pvh.3	P06241	OTTHUMG00000016305	ENST00000354650.3:c.1338G>T	6.37:g.111995769C>A	ENSP00000346671:p.Lys446Asn					FYN_ENST00000538466.1_Missense_Mutation_p.K443N|FYN_ENST00000368678.4_Missense_Mutation_p.K443N|FYN_ENST00000229470.5_Missense_Mutation_p.K394N|FYN_ENST00000368682.3_Missense_Mutation_p.K443N|FYN_ENST00000229471.4_Missense_Mutation_p.K391N|FYN_ENST00000368667.2_Missense_Mutation_p.K446N|FYN_ENST00000356013.2_Missense_Mutation_p.K391N	p.K446N	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	13	1944	-		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)	446			Protein kinase.		B5BU57|E1P557|H0UI48|Q16248|Q5R3A6|Q5R3A7|Q8N5D7	Missense_Mutation	SNP	ENST00000354650.3	37	c.1338G>T	CCDS5094.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026538	0.75390	.	.	ENSG00000010810	ENST00000368682;ENST00000354650;ENST00000229471;ENST00000368667;ENST00000368678;ENST00000229470;ENST00000356013;ENST00000538466;ENST00000544792	T;T;T;T;T;T;T;T	0.14516	2.5;2.5;2.5;2.5;2.5;2.5;2.5;2.5	5.67	2.92	0.33932	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.111388	0.56097	D	0.000033	T	0.26304	0.0642	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;0.993;1.0	T	0.06127	-1.0844	10	0.87932	D	0	.	10.0411	0.42158	0.0:0.7285:0.0:0.2715	.	446;391;443	P06241;P06241-3;E1P556	FYN_HUMAN;.;.	N	443;446;391;446;443;394;391;443;394	ENSP00000357671:K443N;ENSP00000346671:K446N;ENSP00000229471:K391N;ENSP00000357656:K446N;ENSP00000357667:K443N;ENSP00000229470:K394N;ENSP00000348295:K391N;ENSP00000440646:K443N	ENSP00000229470:K394N	K	-	3	2	FYN	112102462	0.999000	0.42202	1.000000	0.80357	0.978000	0.69477	0.698000	0.25571	0.768000	0.33290	0.462000	0.41574	AAG		0.537	FYN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043655.1			12	107	1	0	6.40141e-05	1	7.06363e-05	12	107				
AXDND1	126859	broad.mit.edu	37	1	179380298	179380298	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-AB20-01A-12D-A41K-08	TCGA-EJ-AB20-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42430570-8b50-44a2-88bc-57b1aab9fad7	aad0c72f-096f-4d7b-8cf7-46c5ab0939d5	g.chr1:179380298A>G	ENST00000367618.3	+	12	1514	c.1127A>G	c.(1126-1128)cAt>cGt	p.H376R	AXDND1_ENST00000457238.2_Missense_Mutation_p.H376R|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	376										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GAAGAATATCATGACTTATAT	0.279																																						ENST00000367618.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						c.(1126-1128)cAt>cGt		axonemal dynein light chain domain containing 1							58.0	69.0	65.0					1																	179380298		2203	4296	6499	SO:0001583	missense	126859							g.chr1:179380298A>G	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.1127A>G	1.37:g.179380298A>G	ENSP00000356590:p.His376Arg					AXDND1_ENST00000457238.2_Missense_Mutation_p.H376R|AXDND1_ENST00000461179.2_3'UTR	p.H376R	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN			12	1514	+			376					Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	c.1127A>G	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	A	11.75	1.731095	0.30684	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000457238;ENST00000434088	T;T;T	0.51817	1.94;0.69;1.98	5.18	4.05	0.47172	.	0.122857	0.56097	D	0.000028	T	0.50565	0.1623	L	0.29908	0.895	0.30916	N	0.728547	D;D;P	0.76494	0.991;0.999;0.687	D;D;B	0.85130	0.991;0.997;0.259	T	0.50372	-0.8836	10	0.36615	T	0.2	-9.3555	7.1124	0.25399	0.9004:0.0:0.0996:0.0	.	334;376;376	E9PCJ4;Q5T1B0;F5GWM2	.;AXDN1_HUMAN;.	R	376;334;376;310	ENSP00000356590:H376R;ENSP00000416712:H376R;ENSP00000391716:H310R	ENSP00000353471:H334R	H	+	2	0	AXDND1	177646921	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	2.620000	0.46410	2.064000	0.61679	0.477000	0.44152	CAT		0.279	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		4	57	0	0	0	1	0	4	57				
ZNF699	374879	broad.mit.edu	37	19	9407214	9407214	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-AB20-01A-12D-A41K-08	TCGA-EJ-AB20-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42430570-8b50-44a2-88bc-57b1aab9fad7	aad0c72f-096f-4d7b-8cf7-46c5ab0939d5	g.chr19:9407214C>T	ENST00000591998.1	-	6	1094	c.866G>A	c.(865-867)aGt>aAt	p.S289N	CTC-325H20.4_ENST00000591336.1_RNA|ZNF699_ENST00000308650.3_Missense_Mutation_p.S289N			Q32M78	ZN699_HUMAN	zinc finger protein 699	289					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGAGGAACAACTAAAACCTTT	0.413																																						ENST00000591998.1																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(865-867)aGt>aAt		zinc finger protein 699							123.0	120.0	121.0					19																	9407214		2135	4265	6400	SO:0001583	missense	374879				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9407214C>T	BC109268	CCDS42495.1	19p13.2	2013-01-08				ENSG00000196110		"""Zinc fingers, C2H2-type"", ""-"""	24750	protein-coding gene	gene with protein product	hangover homolog (Drosophila)	609571				16940975	Standard	NM_198535		Approved	FLJ38144, hang	uc002mlc.1	Q32M78		ENST00000591998.1:c.866G>A	19.37:g.9407214C>T	ENSP00000467723:p.Ser289Asn					ZNF699_ENST00000308650.3_Missense_Mutation_p.S289N	p.S289N			Q32M78	ZN699_HUMAN			6	1094	-			289					Q8N9A1	Missense_Mutation	SNP	ENST00000591998.1	37	c.866G>A	CCDS42495.1	.	.	.	.	.	.	.	.	.	.	c	11.57	1.676773	0.29783	.	.	ENSG00000196110	ENST00000308650	T	0.07567	3.18	3.28	1.09	0.20402	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42294	D	0.000732	T	0.07188	0.0182	L	0.50847	1.595	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.27157	-1.0082	10	0.38643	T	0.18	.	5.3455	0.16006	0.0:0.4696:0.4112:0.1192	.	289	Q32M78	ZN699_HUMAN	N	289	ENSP00000311596:S289N	ENSP00000311596:S289N	S	-	2	0	ZNF699	9268214	0.169000	0.23002	0.001000	0.08648	0.004000	0.04260	-0.364000	0.07583	0.399000	0.25367	0.550000	0.68814	AGT		0.413	ZNF699-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449010.1	NM_198535		10	62	0	0	0	1	0	10	62				
USP3	9960	broad.mit.edu	37	15	63824850	63824850	+	Silent	SNP	C	C	T			TCGA-EJ-AB20-01A-12D-A41K-08	TCGA-EJ-AB20-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42430570-8b50-44a2-88bc-57b1aab9fad7	aad0c72f-096f-4d7b-8cf7-46c5ab0939d5	g.chr15:63824850C>T	ENST00000380324.3	+	2	225	c.96C>T	c.(94-96)tgC>tgT	p.C32C	USP3_ENST00000558285.1_Silent_p.C15C|USP3_ENST00000536001.1_Silent_p.C32C|USP3_ENST00000268049.7_Silent_p.C10C|USP3_ENST00000539772.1_Intron|USP3_ENST00000540797.1_Silent_p.C32C	NM_006537.3	NP_006528.2	Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	32					DNA repair (GO:0006281)|histone deubiquitination (GO:0016578)|mitotic cell cycle (GO:0000278)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear chromatin (GO:0000790)	histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		TATTAGTGTGCCGGTCCAACA	0.363																																						ENST00000268049.7																			0				endometrium(3)|large_intestine(7)|lung(4)	14						c.(28-30)tgC>tgT		ubiquitin specific peptidase 3							195.0	180.0	185.0					15																	63824850		2203	4300	6503	SO:0001819	synonymous_variant	9960				DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr15:63824850C>T	AF073344	CCDS32265.1, CCDS58370.1	15q22.3	2008-04-11	2005-08-08			ENSG00000140455		"""Ubiquitin-specific peptidases"""	12626	protein-coding gene	gene with protein product		604728	"""ubiquitin specific protease 3"""			12838346	Standard	NM_006537		Approved		uc002amf.4	Q9Y6I4		ENST00000380324.3:c.96C>T	15.37:g.63824850C>T						USP3_ENST00000536001.1_Silent_p.C32C|USP3_ENST00000539772.1_Intron|USP3_ENST00000380324.3_Silent_p.C32C|USP3_ENST00000540797.1_Silent_p.C32C|USP3_ENST00000558285.1_Silent_p.C15C	p.C10C			Q9Y6I4	UBP3_HUMAN		GBM - Glioblastoma multiforme(80;0.0187)	3	354	+			32					B4DVU5|F5H1A6|Q8WVD0	Silent	SNP	ENST00000380324.3	37	c.30C>T	CCDS32265.1																																																																																				0.363	USP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417773.1			4	116	0	0	0	1	0	4	116				
SORBS2	8470	broad.mit.edu	37	4	186545479	186545479	+	Silent	SNP	G	G	A			TCGA-EJ-AB20-01A-12D-A41K-08	TCGA-EJ-AB20-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42430570-8b50-44a2-88bc-57b1aab9fad7	aad0c72f-096f-4d7b-8cf7-46c5ab0939d5	g.chr4:186545479G>A	ENST00000284776.7	-	13	1601	c.1092C>T	c.(1090-1092)aaC>aaT	p.N364N	SORBS2_ENST00000431808.1_Silent_p.N364N|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000418609.1_Silent_p.N268N|SORBS2_ENST00000355634.5_Silent_p.N464N	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	364					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		AGATTTCTGCGTTTTGCCGGG	0.517																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(1090-1092)aaC>aaT		sorbin and SH3 domain containing 2							68.0	68.0	68.0					4																	186545479		2203	4300	6503	SO:0001819	synonymous_variant	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186545479G>A		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1092C>T	4.37:g.186545479G>A						SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000418609.1_Silent_p.N268N|SORBS2_ENST00000284776.7_Silent_p.N364N|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_Silent_p.N464N|SORBS2_ENST00000319471.9_Intron	p.N364N			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	14	1655	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	364					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Silent	SNP	ENST00000284776.7	37	c.1092C>T	CCDS3845.1																																																																																				0.517	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		32	58	0	0	0	1	0	32	58				
PLPPR4	9890	broad.mit.edu	37	1	99772424	99772424	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-AB20-01A-12D-A41K-08	TCGA-EJ-AB20-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42430570-8b50-44a2-88bc-57b1aab9fad7	aad0c72f-096f-4d7b-8cf7-46c5ab0939d5	g.chr1:99772424C>T	ENST00000370185.3	+	7	2647	c.2150C>T	c.(2149-2151)aCg>aTg	p.T717M	LPPR4_ENST00000370184.1_Missense_Mutation_p.T559M|LPPR4_ENST00000457765.1_Missense_Mutation_p.T659M	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		717					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		GGCTCAGAGACGCTGTCCATT	0.502																																						ENST00000370185.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72						c.(2149-2151)aCg>aTg									68.0	61.0	63.0					1																	99772424		2203	4300	6503	SO:0001583	missense	0						phosphatidate phosphatase activity	g.chr1:99772424C>T																												ENST00000370185.3:c.2150C>T	1.37:g.99772424C>T	ENSP00000359204:p.Thr717Met					LPPR4_ENST00000370184.1_Missense_Mutation_p.T559M|LPPR4_ENST00000457765.1_Missense_Mutation_p.T659M	p.T717M	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	2647	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	717					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.2150C>T	CCDS757.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.151865	0.57151	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000370184	T;T;T	0.25085	2.39;2.39;1.82	6.02	6.02	0.97574	.	0.107851	0.64402	D	0.000005	T	0.28466	0.0704	L	0.36672	1.1	0.49299	D	0.999776	P;D	0.71674	0.871;0.998	B;P	0.56865	0.385;0.808	T	0.00279	-1.1853	9	.	.	.	-23.0053	20.5407	0.99260	0.0:1.0:0.0:0.0	.	659;717	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	M	717;659;559	ENSP00000359204:T717M;ENSP00000394913:T659M;ENSP00000359203:T559M	.	T	+	2	0	RP4-788L13.1	99545012	0.996000	0.38824	0.985000	0.45067	0.950000	0.60333	2.778000	0.47726	2.865000	0.98341	0.655000	0.94253	ACG		0.502	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			17	27	0	0	0	1	0	17	27				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-EJ-AB20-01A-12D-A41K-08	TCGA-EJ-AB20-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42430570-8b50-44a2-88bc-57b1aab9fad7	aad0c72f-096f-4d7b-8cf7-46c5ab0939d5	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		4	54	0	0	0	1	0	4	54				
GPR19	2842	broad.mit.edu	37	12	12814629	12814629	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-AB20-01A-12D-A41K-08	TCGA-EJ-AB20-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42430570-8b50-44a2-88bc-57b1aab9fad7	aad0c72f-096f-4d7b-8cf7-46c5ab0939d5	g.chr12:12814629T>C	ENST00000540510.1	-	2	946	c.754A>G	c.(754-756)Aga>Gga	p.R252G	GPR19_ENST00000332427.2_Missense_Mutation_p.R252G			P46093	GPR4_HUMAN	G protein-coupled receptor 19	205					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		GTGCCTATTCTCCAAATATAT	0.403																																						ENST00000540510.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(754-756)Aga>Gga		G protein-coupled receptor 19							37.0	41.0	39.0					12																	12814629		2203	4300	6503	SO:0001583	missense	2842					integral to plasma membrane	G-protein coupled receptor activity	g.chr12:12814629T>C		CCDS8652.1	12p12.3	2014-01-30				ENSG00000183150		"""GPCR / Class A : Orphans"""	4473	protein-coding gene	gene with protein product		602927					Standard	NM_006143		Approved		uc001raq.2	Q15760		ENST00000540510.1:c.754A>G	12.37:g.12814629T>C	ENSP00000441832:p.Arg252Gly					GPR19_ENST00000332427.2_Missense_Mutation_p.R252G	p.R252G			Q15760	GPR19_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.048)	2	946	-		Prostate(47;0.0802)	252					A8K3T3|B0M0K1|Q6NWM4	Missense_Mutation	SNP	ENST00000540510.1	37	c.754A>G	CCDS8652.1	.	.	.	.	.	.	.	.	.	.	T	13.13	2.144990	0.37825	.	.	ENSG00000183150	ENST00000540510;ENST00000332427	T;T	0.42900	0.96;0.96	5.62	5.62	0.85841	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.55162	0.1903	M	0.62209	1.925	0.58432	D	0.999998	D	0.64830	0.994	D	0.63793	0.918	T	0.51585	-0.8687	10	0.18710	T	0.47	-20.0544	11.5028	0.50448	0.0:0.0:0.1499:0.8501	.	252	Q15760	GPR19_HUMAN	G	252	ENSP00000441832:R252G;ENSP00000333744:R252G	ENSP00000333744:R252G	R	-	1	2	GPR19	12705896	1.000000	0.71417	0.989000	0.46669	0.884000	0.51177	4.945000	0.63568	2.136000	0.66102	0.533000	0.62120	AGA		0.403	GPR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400662.1	NM_006143		3	44	0	0	0	1	0	3	44				
AXIN2	8313	broad.mit.edu	37	17	63554356	63554356	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-AB20-01A-12D-A41K-08	TCGA-EJ-AB20-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42430570-8b50-44a2-88bc-57b1aab9fad7	aad0c72f-096f-4d7b-8cf7-46c5ab0939d5	g.chr17:63554356A>G	ENST00000375702.5	-	1	491	c.383T>C	c.(382-384)tTa>tCa	p.L128S	AXIN2_ENST00000307078.5_Missense_Mutation_p.L128S|CTD-2535L24.2_ENST00000577662.1_3'UTR			Q9Y2T1	AXIN2_HUMAN	axin 2	128	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GGCTACTCGTAAAGTTTTGGT	0.463									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																													ENST00000307078.5																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						c.(382-384)tTa>tCa		axin 2							294.0	256.0	269.0					17																	63554356		2203	4300	6503	SO:0001583	missense	8313	Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr17:63554356A>G	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"""conductin"", ""axil"""	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.383T>C	17.37:g.63554356A>G	ENSP00000364854:p.Leu128Ser					AXIN2_ENST00000375702.5_Missense_Mutation_p.L128S|CTD-2535L24.2_ENST00000577662.1_3'UTR	p.L128S	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN			2	696	-			128			RGS.		Q3MJ88|Q9H3M6|Q9UH84	Missense_Mutation	SNP	ENST00000375702.5	37	c.383T>C		.	.	.	.	.	.	.	.	.	.	A	5.824	0.336341	0.11013	.	.	ENSG00000168646	ENST00000307078;ENST00000544103;ENST00000375702	T;T;T	0.24538	1.85;1.85;1.85	4.44	4.44	0.53790	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.675739	0.13265	N	0.400969	T	0.19927	0.0479	L	0.31157	0.91	0.39851	D	0.973246	B;B;B	0.25719	0.132;0.018;0.132	B;B;B	0.26517	0.07;0.061;0.07	T	0.06023	-1.0850	10	0.39692	T	0.17	-1.975	9.9866	0.41846	0.9162:0.0:0.0838:0.0	.	128;128;128	B7ZKL5;Q9Y2T1;E7ES00	.;AXIN2_HUMAN;.	S	128	ENSP00000302625:L128S;ENSP00000441151:L128S;ENSP00000364854:L128S	ENSP00000302625:L128S	L	-	2	0	AXIN2	60984818	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.536000	0.36072	1.629000	0.50426	0.374000	0.22700	TTA		0.463	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655		5	144	0	0	0	1	0	5	144				
NDST1	3340	broad.mit.edu	37	5	149915370	149915370	+	Missense_Mutation	SNP	C	C	T	rs150009231		TCGA-EJ-AB20-01A-12D-A41K-08	TCGA-EJ-AB20-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42430570-8b50-44a2-88bc-57b1aab9fad7	aad0c72f-096f-4d7b-8cf7-46c5ab0939d5	g.chr5:149915370C>T	ENST00000261797.6	+	6	1862	c.1360C>T	c.(1360-1362)Cgc>Tgc	p.R454C	NDST1_ENST00000523767.1_Missense_Mutation_p.R454C	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	454	Heparan sulfate N-deacetylase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGGAGCATCCGCGTGACCAG	0.642																																						ENST00000261797.6																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34						c.(1360-1362)Cgc>Tgc		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1		C	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	85.0	70.0	75.0		1360	4.8	1.0	5	dbSNP_134	75	0,8600		0,0,4300	yes	missense	NDST1	NM_001543.4	180	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	454/883	149915370	2,13004	2203	4300	6503	SO:0001583	missense	3340				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr5:149915370C>T	U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"""Sulfotransferases, membrane-bound"""	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.1360C>T	5.37:g.149915370C>T	ENSP00000261797:p.Arg454Cys					NDST1_ENST00000523767.1_Missense_Mutation_p.R454C	p.R454C	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	1862	+		all_hematologic(541;0.224)	454			Heparan sulfate N-deacetylase 1.		Q96E57	Missense_Mutation	SNP	ENST00000261797.6	37	c.1360C>T	CCDS34277.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.500435	0.85176	4.54E-4	0.0	ENSG00000070614	ENST00000523767;ENST00000261797	T;T	0.46451	0.87;1.2	4.79	4.79	0.61399	.	0.235220	0.43416	D	0.000565	T	0.52869	0.1761	L	0.55481	1.735	0.53005	D	0.999964	D;D;D	0.64830	0.977;0.994;0.977	P;P;P	0.58520	0.67;0.84;0.67	T	0.55952	-0.8059	10	0.87932	D	0	.	11.626	0.51145	0.3043:0.6957:0.0:0.0	.	454;454;454	E7EVJ3;P52848-2;P52848	.;.;NDST1_HUMAN	C	454	ENSP00000428604:R454C;ENSP00000261797:R454C	ENSP00000261797:R454C	R	+	1	0	NDST1	149895563	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.375000	0.66173	2.372000	0.80975	0.655000	0.94253	CGC		0.642	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374314.2	NM_001543		8	14	0	0	0	1	0	8	14				
QRICH1	54870	broad.mit.edu	37	3	49094842	49094842	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-AB20-01A-12D-A41K-08	TCGA-EJ-AB20-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42430570-8b50-44a2-88bc-57b1aab9fad7	aad0c72f-096f-4d7b-8cf7-46c5ab0939d5	g.chr3:49094842G>A	ENST00000395443.2	-	3	1263	c.791C>T	c.(790-792)cCg>cTg	p.P264L	QRICH1_ENST00000357496.2_Missense_Mutation_p.P264L|QRICH1_ENST00000479449.1_Intron|QRICH1_ENST00000424300.1_Missense_Mutation_p.P264L	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	264	Gln-rich.					nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GGTGGCCACCGGCTGCCCTGA	0.602																																						ENST00000395443.2																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.(790-792)cCg>cTg		glutamine-rich 1							54.0	53.0	53.0					3																	49094842		2203	4299	6502	SO:0001583	missense	54870							g.chr3:49094842G>A		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.791C>T	3.37:g.49094842G>A	ENSP00000378830:p.Pro264Leu					QRICH1_ENST00000424300.1_Missense_Mutation_p.P264L|QRICH1_ENST00000479449.1_Intron|QRICH1_ENST00000357496.2_Missense_Mutation_p.P264L	p.P264L	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	3	1263	-			264			Gln-rich.		Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	ENST00000395443.2	37	c.791C>T	CCDS2787.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.785980	0.49997	.	.	ENSG00000198218	ENST00000395443;ENST00000357496;ENST00000424300	T;T;T	0.20738	2.05;2.05;2.05	6.07	6.07	0.98685	.	0.047167	0.85682	D	0.000000	T	0.14917	0.0360	N	0.14661	0.345	0.80722	D	1	D	0.53619	0.961	B	0.36989	0.238	T	0.02942	-1.1091	10	0.72032	D	0.01	-4.894	20.6439	0.99570	0.0:0.0:1.0:0.0	.	264	Q2TAL8	QRIC1_HUMAN	L	264	ENSP00000378830:P264L;ENSP00000350094:P264L;ENSP00000412890:P264L	ENSP00000350094:P264L	P	-	2	0	QRICH1	49069846	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	6.993000	0.76245	2.890000	0.99128	0.650000	0.86243	CCG		0.602	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		14	31	0	0	0	1	0	14	31				
VWA8	23078	broad.mit.edu	37	13	42249395	42249395	+	Silent	SNP	G	G	C			TCGA-EJ-AB20-01A-12D-A41K-08	TCGA-EJ-AB20-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42430570-8b50-44a2-88bc-57b1aab9fad7	aad0c72f-096f-4d7b-8cf7-46c5ab0939d5	g.chr13:42249395G>C	ENST00000379310.3	-	36	4433	c.4365C>G	c.(4363-4365)gtC>gtG	p.V1455V		NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1455						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										GAAGATCAGTGACTTCTATAT	0.343																																						ENST00000379310.3																			0											c.(4363-4365)gtC>gtG		von Willebrand factor A domain containing 8							129.0	120.0	123.0					13																	42249395		1832	4095	5927	SO:0001819	synonymous_variant	23078							g.chr13:42249395G>C	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.4365C>G	13.37:g.42249395G>C							p.V1455V	NM_015058.1	NP_055873.1					36	4433	-								O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Silent	SNP	ENST00000379310.3	37	c.4365C>G	CCDS41881.1																																																																																				0.343	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		4	33	0	0	0	1	0	4	33				
SIRPA	140885	broad.mit.edu	37	20	1902301	1902301	+	Missense_Mutation	SNP	G	G	A	rs199733185		TCGA-EJ-AB20-01A-12D-A41K-08	TCGA-EJ-AB20-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42430570-8b50-44a2-88bc-57b1aab9fad7	aad0c72f-096f-4d7b-8cf7-46c5ab0939d5	g.chr20:1902301G>A	ENST00000358771.4	+	3	849	c.697G>A	c.(697-699)Gtc>Atc	p.V233I	SIRPA_ENST00000400068.3_Missense_Mutation_p.V233I|SIRPA_ENST00000356025.3_Missense_Mutation_p.V233I	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	233	Ig-like C1-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.V233I(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GGTGGCCCACGTCACCTTGCA	0.617																																					GBM(155;1668 1920 5945 42733 48121)	ENST00000358771.4																			1	Substitution - Missense(1)	p.V233I(1)	lung(1)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.(697-699)Gtc>Atc		signal-regulatory protein alpha							67.0	60.0	62.0					20																	1902301		2203	4296	6499	SO:0001583	missense	140885				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	g.chr20:1902301G>A	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	9662	protein-coding gene	gene with protein product		602461	"""protein tyrosine phosphatase, non-receptor type substrate 1"""	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.697G>A	20.37:g.1902301G>A	ENSP00000351621:p.Val233Ile					SIRPA_ENST00000356025.3_Missense_Mutation_p.V233I|SIRPA_ENST00000400068.3_Missense_Mutation_p.V233I	p.V233I	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN		Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)	3	849	+			233			Ig-like C1-type 1.		A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	c.697G>A	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.382458	0.24944	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.02863	4.13;4.13;4.13	4.86	-7.7	0.01259	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	2.216010	0.01765	N	0.030825	T	0.02727	0.0082	L	0.27053	0.805	0.09310	N	1	B;B;B	0.14805	0.002;0.011;0.008	B;B;B	0.12156	0.002;0.007;0.006	T	0.30765	-0.9967	10	0.20519	T	0.43	.	13.8982	0.63785	0.7446:0.0:0.2554:0.0	.	213;233;233	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	I	233	ENSP00000382941:V233I;ENSP00000348307:V233I;ENSP00000351621:V233I	ENSP00000348307:V233I	V	+	1	0	SIRPA	1850301	0.000000	0.05858	0.000000	0.03702	0.766000	0.43426	-2.041000	0.01415	-1.573000	0.01659	-0.355000	0.07637	GTC		0.617	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		3	59	0	0	0	1	0	3	59				
LRP2	4036	broad.mit.edu	37	2	170134406	170134406	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-AB20-01A-12D-A41K-08	TCGA-EJ-AB20-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42430570-8b50-44a2-88bc-57b1aab9fad7	aad0c72f-096f-4d7b-8cf7-46c5ab0939d5	g.chr2:170134406C>T	ENST00000263816.3	-	13	1906	c.1621G>A	c.(1621-1623)Gca>Aca	p.A541T	LRP2_ENST00000443831.1_Intron	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	541					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TCCATGAATGCCCTTTCCAGC	0.423																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(1621-1623)Gca>Aca		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						119.0	116.0	117.0					2																	170134406		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170134406C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.1621G>A	2.37:g.170134406C>T	ENSP00000263816:p.Ala541Thr					LRP2_ENST00000443831.1_Intron	p.A541T	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	13	1906	-			541					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.1621G>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.456547	0.84317	.	.	ENSG00000081479	ENST00000263816	D	0.91464	-2.85	5.79	5.79	0.91817	Six-bladed beta-propeller, TolB-like (1);	0.048540	0.85682	D	0.000000	D	0.95516	0.8543	M	0.77712	2.385	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94729	0.7908	10	0.49607	T	0.09	.	20.0377	0.97569	0.0:1.0:0.0:0.0	.	541	P98164	LRP2_HUMAN	T	541	ENSP00000263816:A541T	ENSP00000263816:A541T	A	-	1	0	LRP2	169842652	1.000000	0.71417	1.000000	0.80357	0.359000	0.29487	7.697000	0.84279	2.736000	0.93811	0.555000	0.69702	GCA		0.423	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		4	108	0	0	0	1	0	4	108				
ELN	2006	broad.mit.edu	37	7	73478019	73478019	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-AB20-01A-12D-A41K-08	TCGA-EJ-AB20-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42430570-8b50-44a2-88bc-57b1aab9fad7	aad0c72f-096f-4d7b-8cf7-46c5ab0939d5	g.chr7:73478019C>A	ENST00000252034.7	+	29	2386	c.1987C>A	c.(1987-1989)Ctt>Att	p.L663I	ELN_ENST00000458204.1_Missense_Mutation_p.L653I|ELN_ENST00000357036.5_Missense_Mutation_p.L668I|ELN_ENST00000380584.4_Missense_Mutation_p.L615I|ELN_ENST00000429192.1_Missense_Mutation_p.L649I|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000414324.1_Missense_Mutation_p.L639I|ELN_ENST00000445912.1_Missense_Mutation_p.L663I|ELN_ENST00000358929.4_Missense_Mutation_p.L731I|ELN_ENST00000380553.4_Missense_Mutation_p.L527I|ELN_ENST00000320399.6_Missense_Mutation_p.L696I|ELN_ENST00000380575.4_Missense_Mutation_p.L634I|ELN_ENST00000320492.7_Missense_Mutation_p.L582I|ELN_ENST00000380562.4_Missense_Mutation_p.L669I|ELN_ENST00000380576.5_Missense_Mutation_p.L644I	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				TGTTGGGGGCCTTGGAGGTGA	0.572			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""																															ENST00000252034.7				Dom	yes		7	7q11.23	2006	T	elastin	yes	"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""	L	PAX5		B-ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32						c.(1987-1989)Ctt>Att		elastin	Rofecoxib(DB00533)						189.0	140.0	156.0					7																	73478019		2203	4300	6503	SO:0001583	missense	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73478019C>A		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1987C>A	7.37:g.73478019C>A	ENSP00000252034:p.Leu663Ile					ELN_ENST00000320492.7_Missense_Mutation_p.L582I|ELN_ENST00000380584.4_Missense_Mutation_p.L615I|ELN_ENST00000358929.4_Missense_Mutation_p.L731I|ELN_ENST00000380575.4_Missense_Mutation_p.L634I|ELN_ENST00000380562.4_Missense_Mutation_p.L669I|ELN_ENST00000445912.1_Missense_Mutation_p.L663I|ELN_ENST00000429192.1_Missense_Mutation_p.L649I|ELN_ENST00000458204.1_Missense_Mutation_p.L653I|ELN_ENST00000357036.5_Missense_Mutation_p.L668I|ELN_ENST00000320399.6_Missense_Mutation_p.L696I|ELN_ENST00000380576.5_Missense_Mutation_p.L644I|ELN_ENST00000380553.4_Missense_Mutation_p.L527I|ELN_ENST00000414324.1_Missense_Mutation_p.L639I	p.L663I	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN			29	2386	+		Lung NSC(55;0.159)	725			Ala-rich.		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	ENST00000252034.7	37	c.1987C>A	CCDS5562.2	.	.	.	.	.	.	.	.	.	.	c	5.490	0.275436	0.10403	.	.	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000358929;ENST00000320492;ENST00000414324;ENST00000380562;ENST00000380575;ENST00000380584;ENST00000458204;ENST00000357036;ENST00000429192;ENST00000442462;ENST00000380553;ENST00000380576;ENST00000320399	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.35605	1.45;1.5;1.46;1.52;1.51;1.5;1.35;1.43;1.5;1.3;1.45;1.44;1.51;1.57	2.91	-4.36	0.03645	.	.	.	.	.	T	0.22781	0.0550	.	.	.	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B;B;B	0.32101	0.356;0.356;0.356;0.356;0.356;0.356;0.356;0.356;0.356;0.356;0.356;0.356;0.356	B;B;B;B;B;B;B;B;B;B;B;B;B	0.30401	0.115;0.115;0.115;0.115;0.115;0.115;0.115;0.115;0.115;0.115;0.115;0.115;0.115	T	0.14699	-1.0463	8	0.36615	T	0.2	.	10.574	0.45217	0.0:0.7282:0.0:0.2718	.	663;582;639;653;669;634;649;668;644;527;574;615;663	E7ENM0;G5E950;G3V0G6;E7EN65;P15502-1;P15502-7;P15502-12;P15502-5;P15502-13;P15502-11;B3KRT8;P15502-8;P15502-2	.;.;.;.;.;.;.;.;.;.;.;.;.	I	663;663;731;582;639;669;634;615;653;668;649;602;527;644;696	ENSP00000389857:L663I;ENSP00000252034:L663I;ENSP00000351807:L731I;ENSP00000315607:L582I;ENSP00000392575:L639I;ENSP00000369936:L669I;ENSP00000369949:L634I;ENSP00000369958:L615I;ENSP00000403162:L653I;ENSP00000349540:L668I;ENSP00000391129:L649I;ENSP00000369926:L527I;ENSP00000369950:L644I;ENSP00000313565:L696I	ENSP00000252034:L663I	L	+	1	0	ELN	73115955	0.000000	0.05858	0.001000	0.08648	0.020000	0.10135	-1.090000	0.03372	-0.964000	0.03595	-0.384000	0.06662	CTT		0.572	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		4	84	1	0	0.150653	1	0.155513	4	84				
HLA-V	352962	broad.mit.edu	37	6	29760353	29760373	+	RNA	DEL	GCGGGCGCCGTGGATGGAGCA	GCGGGCGCCGTGGATGGAGCA	-	rs60681449|rs2905755|rs140982245	byFrequency	TCGA-EJ-AB20-01A-12D-A41K-08	TCGA-EJ-AB20-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42430570-8b50-44a2-88bc-57b1aab9fad7	aad0c72f-096f-4d7b-8cf7-46c5ab0939d5	g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	ENST00000457107.1	+	0	223_243									major histocompatibility complex, class I, V (pseudogene)																		GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG	0.674																																						ENST00000457107.1																			0																																																			0							g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	M96332		6p21.3	2012-10-05	2007-12-12	2007-12-12	ENSG00000181126	ENSG00000181126		"""Histocompatibility complex"""	23482	pseudogene	pseudogene			"""HLA-75 pseudogene"""	HLA-75			Standard	NG_002729		Approved	dJ377H14.4			OTTHUMG00000031277		6.37:g.29760353_29760373delGCGGGCGCCGTGGATGGAGCA														0	223_243	+									RNA	DEL	ENST00000457107.1	37																																																																																						0.674	HLA-V-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000105231.1	NG_002729		2	4						2	4	---	---	---	---
PRB2	653247	broad.mit.edu	37	12	11546506	11546508	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-EJ-AB20-01A-12D-A41K-08	TCGA-EJ-AB20-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42430570-8b50-44a2-88bc-57b1aab9fad7	aad0c72f-096f-4d7b-8cf7-46c5ab0939d5	g.chr12:11546506_11546508delTTG	ENST00000389362.4	-	3	539_541	c.504_506delCAA	c.(502-507)aacaag>aag	p.N168del	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	168	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACTTCGGGACTTGTTGTCTCCTT	0.596																																						ENST00000389362.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(502-507)aag>aa		proline-rich protein BstNI subfamily 2																																				SO:0001651	inframe_deletion	653247							g.chr12:11546506_11546508delTTG	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.504_506delCAA	12.37:g.11546509_11546511delTTG	ENSP00000374013:p.Asn168del					PRB1_ENST00000546254.1_Intron	p.NK168del	NM_006248.3	NP_006239.3			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	539_541	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	In_Frame_Del	DEL	ENST00000389362.4	37	c.504_506delCAA	CCDS41757.2																																																																																				0.596	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		8	232						8	232	---	---	---	---
RP11-597A11.1	0	broad.mit.edu	37	14	20086382	20086383	+	RNA	INS	-	-	AAAA	rs202177940		TCGA-EJ-AB20-01A-12D-A41K-08	TCGA-EJ-AB20-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42430570-8b50-44a2-88bc-57b1aab9fad7	aad0c72f-096f-4d7b-8cf7-46c5ab0939d5	g.chr14:20086382_20086383insAAAA	ENST00000548261.1	+	0	135																											TCTTACAAGGTAAAAAAAATGA	0.312																																						ENST00000548261.1																			0																																																			0							g.chr14:20086382_20086383insAAAA																													14.37:g.20086387_20086390dupAAAA														0	135	+									RNA	INS	ENST00000548261.1	37																																																																																						0.312	RP11-597A11.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409571.1			4	8						4	8	---	---	---	---
CSPG4P5	114817	broad.mit.edu	37	15	84957480	84957499	+	RNA	DEL	GGCCCCACATCCATTGAGAA	GGCCCCACATCCATTGAGAA	-	rs554759799|rs529134831|rs548880213	byFrequency	TCGA-EJ-AB20-01A-12D-A41K-08	TCGA-EJ-AB20-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42430570-8b50-44a2-88bc-57b1aab9fad7	aad0c72f-096f-4d7b-8cf7-46c5ab0939d5	g.chr15:84957480_84957499delGGCCCCACATCCATTGAGAA	ENST00000558801.1	-	0	7230_7249									DNM1 pseudogene 51																		TGTGTGCACTGGCCCCACATCCATTGAGAAGGCCCCACAT	0.586														762	0.152157	0.146	0.3256	5008	,	,		24353	0.1339		0.1481	False		,,,				2504	0.0603					ENST00000558801.1																			0																																																			0							g.chr15:84957480_84957499delGGCCCCACATCCATTGAGAA			15q25.2	2013-05-16			ENSG00000259297	ENSG00000235370			48500	pseudogene	pseudogene							Standard			Approved				OTTHUMG00000172438		15.37:g.84957480_84957499delGGCCCCACATCCATTGAGAA														0	7230_7249	-									RNA	DEL	ENST00000558801.1	37																																																																																						0.586	DNM1P51-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000471721.1			4	3						4	3	---	---	---	---
LOC100129935	100129935	broad.mit.edu	37	19	40131120	40131120	+	RNA	DEL	C	C	-			TCGA-EJ-AB20-01A-12D-A41K-08	TCGA-EJ-AB20-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42430570-8b50-44a2-88bc-57b1aab9fad7	aad0c72f-096f-4d7b-8cf7-46c5ab0939d5	g.chr19:40131120delC	ENST00000594263.1	+	0	1291					NR_026870.1																						TCAGCAATGACCCAGAGCTGC	0.522																																						ENST00000594263.1																			0																																																			0							g.chr19:40131120delC																													19.37:g.40131120delC								NR_026870.1						0	1291	+									RNA	DEL	ENST00000594263.1	37																																																																																						0.522	AC005176.2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000465018.1			2	4						2	4	---	---	---	---
