#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
OAS3	4940	broad.mit.edu	37	12	113384760	113384760	+	Silent	SNP	C	C	T			TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr12:113384760C>T	ENST00000228928.7	+	4	1028	c.849C>T	c.(847-849)ttC>ttT	p.F283F	RP1-71H24.1_ENST00000552784.1_RNA|OAS3_ENST00000546638.1_3'UTR	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	283	OAS domain 1.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						TTGGGCAGTTCTTGCAGCGGC	0.557																																						ENST00000228928.7																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						c.(847-849)ttC>ttT		2'-5'-oligoadenylate synthetase 3, 100kDa							78.0	81.0	80.0					12																	113384760		1979	4162	6141	SO:0001819	synonymous_variant	4940				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113384760C>T	AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"""2'-5'-oligoadenylate synthetase 3 (100 kD)"""			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.849C>T	12.37:g.113384760C>T						RP1-71H24.1_ENST00000552784.1_RNA|OAS3_ENST00000546638.1_3'UTR	p.F283F	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN			4	1028	+			283			OAS domain 1.		Q2HJ14|Q9H3P5	Silent	SNP	ENST00000228928.7	37	c.849C>T	CCDS44981.1																																																																																				0.557	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1			5	27	0	0	0	1	0	5	27				
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs375625296		TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr17:21731144T>G	ENST00000578713.1	+	1	450	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000584755.1_Missense_Mutation_p.L149R|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR					ubiquitin B pseudogene 4									p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542																																						ENST00000584755.1																			18	Substitution - Missense(18)	p.L149R(18)	endometrium(12)|prostate(6)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(445-447)cTg>cGg																																						SO:0001583	missense	0							g.chr17:21731144T>G	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.446T>G	17.37:g.21731144T>G	ENSP00000464265:p.Leu149Arg					UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR	p.L149R							2	843	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.446T>G																																																																																					0.542	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			4	87	0	0	0	1	0	4	87				
PALLD	23022	broad.mit.edu	37	4	169837159	169837159	+	Missense_Mutation	SNP	T	T	G			TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr4:169837159T>G	ENST00000505667.1	+	17	3004	c.2831T>G	c.(2830-2832)cTc>cGc	p.L944R	PALLD_ENST00000507735.1_Missense_Mutation_p.L440R|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000335742.7_Missense_Mutation_p.L769R|PALLD_ENST00000512127.1_Missense_Mutation_p.L545R|PALLD_ENST00000261509.6_Missense_Mutation_p.L927R			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	1151					cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GAAGGAAAACTCTGCAGAATG	0.443									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)	ENST00000335742.7																			0				breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48						c.(2305-2307)cTc>cGc		palladin, cytoskeletal associated protein							96.0	101.0	99.0					4																	169837159		2203	4300	6503	SO:0001583	missense	23022	Pancreatic Cancer, Familial Clustering of	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	g.chr4:169837159T>G	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.2831T>G	4.37:g.169837159T>G	ENSP00000425556:p.Leu944Arg					CBR4_ENST00000509108.1_Intron|PALLD_ENST00000507735.1_Missense_Mutation_p.L440R|PALLD_ENST00000505667.1_Missense_Mutation_p.L944R|PALLD_ENST00000261509.6_Missense_Mutation_p.L927R|PALLD_ENST00000512127.1_Missense_Mutation_p.L545R	p.L769R			Q8WX93	PALLD_HUMAN		GBM - Glioblastoma multiforme(119;0.204)	17	3663	+		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)	1151			Interaction with EPS8 (By similarity).|Pro-rich.		B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	37	c.2306T>G	CCDS54818.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.083535	0.76642	.	.	ENSG00000129116	ENST00000261509;ENST00000335742;ENST00000505667;ENST00000512127;ENST00000507735	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	5.43	5.43	0.79202	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.29009	U	0.013422	T	0.51432	0.1674	N	0.01096	-1.015	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.61992	-0.6948	10	0.16420	T	0.52	.	15.4601	0.75349	0.0:0.0:0.0:1.0	.	944;1151;545;927	B7ZMM5;Q8WX93;B3KTG2;B2RTX2	.;PALLD_HUMAN;.;.	R	927;769;944;545;440	ENSP00000261509:L927R;ENSP00000336735:L769R;ENSP00000425556:L944R;ENSP00000426947:L545R;ENSP00000424016:L440R	ENSP00000261509:L927R	L	+	2	0	PALLD	170073734	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	8.040000	0.89188	2.061000	0.61500	0.260000	0.18958	CTC		0.443	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		11	36	0	0	0	1	0	11	36				
NETO1	81832	broad.mit.edu	37	18	70526134	70526134	+	Missense_Mutation	SNP	A	A	T			TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr18:70526134A>T	ENST00000327305.6	-	4	1053	c.396T>A	c.(394-396)ttT>ttA	p.F132L	NETO1_ENST00000299430.2_Missense_Mutation_p.F131L|NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000397929.1_Missense_Mutation_p.F131L|NETO1_ENST00000583169.1_Missense_Mutation_p.F132L	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	132	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TAATCCATAGAAATCTTCCAC	0.348																																						ENST00000327305.6																			0				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63						c.(394-396)ttT>ttA		neuropilin (NRP) and tolloid (TLL)-like 1							69.0	73.0	71.0					18																	70526134		2203	4300	6503	SO:0001583	missense	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70526134A>T	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.396T>A	18.37:g.70526134A>T	ENSP00000313088:p.Phe132Leu					NETO1_ENST00000583169.1_Missense_Mutation_p.F132L|NETO1_ENST00000397929.1_Missense_Mutation_p.F131L|NETO1_ENST00000299430.2_Missense_Mutation_p.F131L|NETO1_ENST00000580049.1_5'UTR	p.F132L	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	4	1053	-		Esophageal squamous(42;0.129)	132			CUB 1.		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	c.396T>A	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	A	16.79	3.220097	0.58560	.	.	ENSG00000166342	ENST00000327305;ENST00000299430;ENST00000397929	T;T;T	0.16743	2.32;2.32;2.32	5.08	2.4	0.29515	CUB (5);	0.000000	0.64402	D	0.000007	T	0.13030	0.0316	L	0.41356	1.27	0.48632	D	0.999688	P;B;B	0.41673	0.759;0.206;0.372	B;B;B	0.39935	0.186;0.124;0.314	T	0.03898	-1.0994	10	0.56958	D	0.05	0.3703	6.3678	0.21465	0.589:0.0:0.411:0.0	.	131;131;132	Q8TDF5-1;Q8TDF5-2;Q8TDF5	.;.;NETO1_HUMAN	L	132;131;131	ENSP00000313088:F132L;ENSP00000299430:F131L;ENSP00000381024:F131L	ENSP00000299430:F131L	F	-	3	2	NETO1	68677114	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.397000	0.34543	0.882000	0.36016	0.533000	0.62120	TTT		0.348	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		21	72	0	0	0	1	0	21	72				
ZNF750	79755	broad.mit.edu	37	17	80789374	80789374	+	Silent	SNP	G	G	A	rs141585758		TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr17:80789374G>A	ENST00000269394.3	-	2	1790	c.957C>T	c.(955-957)taC>taT	p.Y319Y	TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	319					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGTAAAATCCGTAAGGAATCG	0.537																																						ENST00000269394.3																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31						c.(955-957)taC>taT		zinc finger protein 750		G	,	2,4404	4.2+/-10.8	0,2,2201	163.0	177.0	172.0		,957	-9.8	0.0	17	dbSNP_134	172	0,8600		0,0,4300	no	intron,coding-synonymous	TBCD,ZNF750	NM_005993.4,NM_024702.2	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	,319/724	80789374	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	79755					intracellular	zinc ion binding	g.chr17:80789374G>A	AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.957C>T	17.37:g.80789374G>A						ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000539345.2_Intron	p.Y319Y	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		2	1790	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	319					Q9H899	Silent	SNP	ENST00000269394.3	37	c.957C>T	CCDS11819.1																																																																																				0.537	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702		4	175	0	0	0	1	0	4	175				
COL4A3	1285	broad.mit.edu	37	2	228172604	228172604	+	Silent	SNP	A	A	G			TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr2:228172604A>G	ENST00000396578.3	+	48	4593	c.4431A>G	c.(4429-4431)caA>caG	p.Q1477Q	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1477	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TTTTTGTACAAGGAAATCAAC	0.473																																						ENST00000396578.3																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(4429-4431)caA>caG		collagen, type IV, alpha 3 (Goodpasture antigen)							76.0	72.0	73.0					2																	228172604		1893	4111	6004	SO:0001819	synonymous_variant	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228172604A>G		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.4431A>G	2.37:g.228172604A>G						AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA	p.Q1477Q	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	48	4593	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	1477			Collagen IV NC1.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Silent	SNP	ENST00000396578.3	37	c.4431A>G	CCDS42829.1																																																																																				0.473	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		10	34	0	0	0	1	0	10	34				
FAM86A	196483	broad.mit.edu	37	16	5140517	5140517	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr16:5140517T>C	ENST00000427587.4	-	5	460	c.392A>G	c.(391-393)tAc>tGc	p.Y131C	FAM86A_ENST00000458008.4_Missense_Mutation_p.Y97C|FAM86A_ENST00000587133.1_Missense_Mutation_p.Y70C	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	131						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						TGTGGTACCGTAGGAGATGAT	0.617																																						ENST00000427587.4																			0				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						c.(391-393)tAc>tGc		family with sequence similarity 86, member A							89.0	88.0	88.0					16																	5140517		2197	4300	6497	SO:0001583	missense	196483							g.chr16:5140517T>C	BC010084	CCDS10529.1, CCDS10530.1, CCDS73823.1	16p13.3	2012-11-07			ENSG00000118894	ENSG00000118894			32221	protein-coding gene	gene with protein product		615263					Standard	NM_201400		Approved	SB153, MGC19636	uc002cyo.2	Q96G04	OTTHUMG00000129527	ENST00000427587.4:c.392A>G	16.37:g.5140517T>C	ENSP00000398502:p.Tyr131Cys					FAM86A_ENST00000587133.1_Missense_Mutation_p.Y70C|FAM86A_ENST00000458008.4_Missense_Mutation_p.Y97C	p.Y131C	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN			5	460	-			131					D3DUF0|Q96S85	Missense_Mutation	SNP	ENST00000427587.4	37	c.392A>G	CCDS10529.1	.	.	.	.	.	.	.	.	.	.	t	7.335	0.619803	0.14193	.	.	ENSG00000118894	ENST00000458008;ENST00000427587	T;T	0.17213	2.29;4.07	5.02	5.02	0.67125	.	0.647410	0.15161	N	0.277161	T	0.20536	0.0494	M	0.80183	2.485	0.09310	N	1	B;P	0.35774	0.05;0.519	B;B	0.31495	0.024;0.131	T	0.26710	-1.0095	10	0.45353	T	0.12	.	7.3965	0.26939	0.0:0.0952:0.0:0.9048	.	97;131	Q96G04-2;Q96G04	.;FA86A_HUMAN	C	97;131	ENSP00000389710:Y97C;ENSP00000398502:Y131C	ENSP00000398502:Y131C	Y	-	2	0	FAM86A	5080518	0.671000	0.27521	0.336000	0.25522	0.013000	0.08279	2.508000	0.45450	2.117000	0.64856	0.370000	0.22315	TAC		0.617	FAM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251713.1	NM_201400		11	72	0	0	0	1	0	11	72				
PRDM10	56980	broad.mit.edu	37	11	129807533	129807533	+	Silent	SNP	C	C	A			TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr11:129807533C>A	ENST00000360871.3	-	8	1230	c.999G>T	c.(997-999)gtG>gtT	p.V333V	PRDM10_ENST00000358825.5_Silent_p.V333V|PRDM10_ENST00000304538.6_Silent_p.V247V|PRDM10_ENST00000526082.1_Silent_p.V247V|PRDM10_ENST00000423662.2_Silent_p.V247V|PRDM10_ENST00000528746.1_Silent_p.V307V	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	333					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TTTTCTGGTTCACGAACTCAG	0.363																																						ENST00000358825.5																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48						c.(997-999)gtG>gtT		PR domain containing 10							98.0	89.0	92.0					11																	129807533		2201	4297	6498	SO:0001819	synonymous_variant	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129807533C>A	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.999G>T	11.37:g.129807533C>A						PRDM10_ENST00000526082.1_Silent_p.V247V|PRDM10_ENST00000304538.6_Silent_p.V247V|PRDM10_ENST00000360871.3_Silent_p.V333V|PRDM10_ENST00000528746.1_Silent_p.V307V|PRDM10_ENST00000423662.2_Silent_p.V247V	p.V333V	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	8	1230	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	333					B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Silent	SNP	ENST00000360871.3	37	c.999G>T	CCDS8484.1																																																																																				0.363	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		7	32	1	0	0.0381472	1	0.0381472	7	32				
ZFHX3	463	broad.mit.edu	37	16	72832434	72832434	+	Nonsense_Mutation	SNP	C	C	A			TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr16:72832434C>A	ENST00000268489.5	-	9	4819	c.4147G>T	c.(4147-4149)Gaa>Taa	p.E1383*	ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.E469*	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1383					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCATGCACTTCATTAAAATGC	0.502																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(4147-4149)Gaa>Taa		zinc finger homeobox 3							116.0	104.0	108.0					16																	72832434		2198	4300	6498	SO:0001587	stop_gained	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72832434C>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.4147G>T	16.37:g.72832434C>A	ENSP00000268489:p.Glu1383*					ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.E469*	p.E1383*	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	4819	-		Ovarian(137;0.13)	1383					D3DWS8|O15101|Q13719	Nonsense_Mutation	SNP	ENST00000268489.5	37	c.4147G>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	47	13.769619	0.99762	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	.	.	.	5.94	5.94	0.96194	.	0.000000	0.50627	D	0.000118	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	20.3633	0.98874	0.0:1.0:0.0:0.0	.	.	.	.	X	1383;469	.	ENSP00000268489:E1383X	E	-	1	0	ZFHX3	71389935	1.000000	0.71417	0.995000	0.50966	0.978000	0.69477	7.818000	0.86416	2.826000	0.97356	0.561000	0.74099	GAA		0.502	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		18	33	1	0	5.03518e-11	1	5.28694e-11	18	33				
EIF5A	1984	broad.mit.edu	37	17	7214340	7214340	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr17:7214340C>T	ENST00000336458.8	+	3	570	c.169C>T	c.(169-171)Cat>Tat	p.H57Y	EIF5A_ENST00000572815.1_Missense_Mutation_p.H57Y|EIF5A_ENST00000419711.2_Missense_Mutation_p.H57Y|EIF5A_ENST00000336452.7_Missense_Mutation_p.H87Y|EIF5A_ENST00000573542.1_Missense_Mutation_p.H57Y|EIF5A_ENST00000416016.2_Missense_Mutation_p.H57Y|EIF5A_ENST00000571955.1_Missense_Mutation_p.H57Y|EIF5A_ENST00000576930.1_Missense_Mutation_p.H57Y	NM_001970.4	NP_001961.1	P63241	IF5A1_HUMAN	eukaryotic translation initiation factor 5A	57	DOHH-binding.				apoptotic process (GO:0006915)|cellular protein metabolic process (GO:0044267)|mRNA export from nucleus (GO:0006406)|nucleocytoplasmic transport (GO:0006913)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of cell proliferation (GO:0008284)|positive regulation of translational elongation (GO:0045901)|positive regulation of translational termination (GO:0045905)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|translational frameshifting (GO:0006452)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation elongation factor activity (GO:0003746)|U6 snRNA binding (GO:0017070)			endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1)	6						CATACAGGTCCATCTGGTTGG	0.403																																						ENST00000336458.8																			0				endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1)	6						c.(169-171)Cat>Tat		eukaryotic translation initiation factor 5A							106.0	88.0	94.0					17																	7214340		2203	4300	6503	SO:0001583	missense	1984				induction of apoptosis|mRNA export from nucleus|peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein export from nucleus|translational frameshifting|transmembrane transport	annulate lamellae|cytosol|endoplasmic reticulum membrane|nuclear pore	protein N-terminus binding|ribosome binding|translation elongation factor activity|U6 snRNA binding	g.chr17:7214340C>T		CCDS11099.1, CCDS45601.1	17p13-p12	2009-05-01			ENSG00000132507	ENSG00000132507			3300	protein-coding gene	gene with protein product		600187				7759117	Standard	NM_001143760		Approved	EIF5A1, EIF-5A, MGC99547, MGC104255	uc002gfr.3	P63241	OTTHUMG00000102197	ENST00000336458.8:c.169C>T	17.37:g.7214340C>T	ENSP00000336776:p.His57Tyr					EIF5A_ENST00000571955.1_Missense_Mutation_p.H57Y|EIF5A_ENST00000416016.2_Missense_Mutation_p.H57Y|EIF5A_ENST00000572815.1_Missense_Mutation_p.H57Y|EIF5A_ENST00000419711.2_Missense_Mutation_p.H57Y|EIF5A_ENST00000576930.1_Missense_Mutation_p.H57Y|EIF5A_ENST00000573542.1_Missense_Mutation_p.H57Y|EIF5A_ENST00000336452.7_Missense_Mutation_p.H87Y	p.H57Y	NM_001970.4	NP_001961.1	P63241	IF5A1_HUMAN			3	570	+			57			DOHH-binding.		A8K9A0|D3DTP2|P10159|Q16182|Q7L7L3|Q7Z4L1|Q9D0G2	Missense_Mutation	SNP	ENST00000336458.8	37	c.169C>T	CCDS11099.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.252498	0.59212	.	.	ENSG00000132507	ENST00000336452;ENST00000336458;ENST00000419711;ENST00000416016	T;T;T;T	0.51574	0.7;0.74;0.74;0.74	4.34	4.34	0.51931	KOW (1);Translation protein SH3-like (1);Translation protein SH3-like, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.55529	0.1926	M	0.83384	2.64	0.80722	D	1	B;B	0.20368	0.027;0.044	B;B	0.27170	0.077;0.045	T	0.61773	-0.6994	10	0.62326	D	0.03	0.4019	16.116	0.81304	0.0:1.0:0.0:0.0	.	57;87	P63241;P63241-2	IF5A1_HUMAN;.	Y	87;57;57;57	ENSP00000336702:H87Y;ENSP00000336776:H57Y;ENSP00000390677:H57Y;ENSP00000396073:H57Y	ENSP00000336702:H87Y	H	+	1	0	EIF5A	7155064	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.017000	0.76399	2.424000	0.82194	0.561000	0.74099	CAT		0.403	EIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220047.3	NM_001970		9	74	0	0	0	1	0	9	74				
TPTE	7179	broad.mit.edu	37	21	10933879	10933879	+	Missense_Mutation	SNP	C	C	T	rs149228869		TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr21:10933879C>T	ENST00000361285.4	-	17	1329	c.1000G>A	c.(1000-1002)Gta>Ata	p.V334I	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Missense_Mutation_p.V316I|TPTE_ENST00000342420.5_Missense_Mutation_p.V296I	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	334	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGAATCGCTACGATGTTTTCA	0.313																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(946-948)Gta>Ata		transmembrane phosphatase with tensin homology		C	ILE/VAL,ILE/VAL,ILE/VAL	4,4402		0,4,2199	244.0	243.0	243.0		946,886,1000	0.1	0.0	21	dbSNP_134	243	0,8600		0,0,4300	no	missense,missense,missense	TPTE	NM_199259.2,NM_199260.2,NM_199261.2	29,29,29	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	benign,benign,benign	316/534,296/514,334/552	10933879	4,13002	2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10933879C>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1000G>A	21.37:g.10933879C>T	ENSP00000355208:p.Val334Ile					TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.V334I|TPTE_ENST00000342420.5_Missense_Mutation_p.V296I	p.V316I	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	16	1313	-			334			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.946G>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	0.010	-1.795271	0.00617	9.08E-4	0.0	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.88975	-2.45;-2.45;-2.45	1.97	0.0501	0.14292	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.112978	0.56097	N	0.000029	T	0.69260	0.3091	N	0.05124	-0.11	0.26216	N	0.979237	B;B;B	0.18013	0.02;0.02;0.025	B;B;B	0.20955	0.019;0.009;0.032	T	0.56450	-0.7977	10	0.10902	T	0.67	-10.4341	4.9844	0.14182	0.0:0.5035:0.0:0.4965	.	296;316;334	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	I	316;334;296	ENSP00000298232:V316I;ENSP00000355208:V334I;ENSP00000344441:V296I	ENSP00000298232:V316I	V	-	1	0	TPTE	9955750	0.093000	0.21703	0.006000	0.13384	0.155000	0.21991	0.193000	0.17116	0.000000	0.14550	-1.111000	0.02071	GTA		0.313	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			19	280	0	0	0	1	0	19	280				
VARS2	57176	broad.mit.edu	37	6	30884915	30884915	+	Missense_Mutation	SNP	C	C	T	rs200002496		TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr6:30884915C>T	ENST00000321897.5	+	8	1419	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W	VARS2_ENST00000541562.1_Missense_Mutation_p.R293W|VARS2_ENST00000416670.2_Missense_Mutation_p.R263W|VARS2_ENST00000542001.1_Missense_Mutation_p.R123W			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	263					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)	p.R263W(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						AGCTTTTGTGCGGCTCTACAA	0.557																																						ENST00000321897.5																			1	Substitution - Missense(1)	p.R263W(1)	lung(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						c.(787-789)Cgg>Tgg		valyl-tRNA synthetase 2, mitochondrial							163.0	159.0	161.0					6																	30884915		1511	2709	4220	SO:0001583	missense	57176				valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	g.chr6:30884915C>T	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	21642	protein-coding gene	gene with protein product	"""valine tRNA ligase 2, mitochondrial"""	612802	"""valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)"""	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.787C>T	6.37:g.30884915C>T	ENSP00000316092:p.Arg263Trp					VARS2_ENST00000542001.1_Missense_Mutation_p.R123W|VARS2_ENST00000541562.1_Missense_Mutation_p.R293W|VARS2_ENST00000416670.2_Missense_Mutation_p.R263W	p.R263W			Q5ST30	SYVM_HUMAN			8	1419	+			263					A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	ENST00000321897.5	37	c.787C>T	CCDS34387.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.202930	0.79127	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000428017;ENST00000541562	T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15	4.98	4.98	0.66077	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.137660	0.47852	D	0.000201	T	0.63873	0.2548	M	0.93106	3.38	0.41300	D	0.987033	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.998	T	0.73388	-0.3998	10	0.87932	D	0	-6.0214	15.7772	0.78232	0.0:1.0:0.0:0.0	.	263;293;263	B7ZL25;F5GXJ0;Q5ST30	.;.;SYVM_HUMAN	W	263;263;123;263;293	ENSP00000316092:R263W;ENSP00000394802:R263W;ENSP00000438200:R123W;ENSP00000403749:R263W;ENSP00000441000:R293W	ENSP00000316092:R263W	R	+	1	2	VARS2	30992894	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	3.036000	0.49767	2.581000	0.87130	0.655000	0.94253	CGG		0.557	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442		4	100	0	0	0	1	0	4	100				
OR5A1	219982	broad.mit.edu	37	11	59210668	59210668	+	Silent	SNP	C	C	T			TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr11:59210668C>T	ENST00000302030.2	+	1	52	c.27C>T	c.(25-27)agC>agT	p.S9S		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CCTGGAACAGCTCATCAGTGA	0.507																																						ENST00000302030.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						c.(25-27)agC>agT		olfactory receptor, family 5, subfamily A, member 1							116.0	106.0	109.0					11																	59210668		2201	4295	6496	SO:0001819	synonymous_variant	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59210668C>T	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"""GPCR / Class A : Olfactory receptors"""	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.27C>T	11.37:g.59210668C>T							p.S9S	NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN			1	52	+			9					B9EH58|Q6IFF2|Q96RB1	Silent	SNP	ENST00000302030.2	37	c.27C>T	CCDS31561.1																																																																																				0.507	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		8	34	0	0	0	1	0	8	34				
LYST	1130	broad.mit.edu	37	1	235887435	235887435	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr1:235887435C>T	ENST00000389794.3	-	39	9382	c.9208G>A	c.(9208-9210)Gaa>Aaa	p.E3070K	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.E3070K			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3070					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTAATTTCTTCATATGTCCAG	0.353																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(9208-9210)Gaa>Aaa		lysosomal trafficking regulator							94.0	93.0	93.0					1																	235887435		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235887435C>T	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.9208G>A	1.37:g.235887435C>T	ENSP00000374444:p.Glu3070Lys					LYST_ENST00000389793.2_Missense_Mutation_p.E3070K|LYST_ENST00000473037.1_5'UTR	p.E3070K			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		39	9382	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	3070					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.9208G>A	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	35	5.571491	0.96553	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.63255	-0.03;-0.03	5.53	5.53	0.82687	PH-BEACH domain (1);	0.000000	0.85682	D	0.000000	T	0.79953	0.4535	M	0.73430	2.235	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.81079	-0.1095	10	0.62326	D	0.03	.	19.4728	0.94969	0.0:1.0:0.0:0.0	.	3070	Q99698	LYST_HUMAN	K	3070	ENSP00000374444:E3070K;ENSP00000374443:E3070K	ENSP00000374443:E3070K	E	-	1	0	LYST	233954058	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.602000	0.87976	0.467000	0.42956	GAA		0.353	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			10	46	0	0	0	1	0	10	46				
FGL2	10875	broad.mit.edu	37	7	76828505	76828505	+	Silent	SNP	T	T	A			TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr7:76828505T>A	ENST00000248598.5	-	1	638	c.606A>T	c.(604-606)tcA>tcT	p.S202S	RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	202						extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						TACCTGGACGTGACTGTATTT	0.318																																						ENST00000248598.5																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						c.(604-606)tcA>tcT		fibrinogen-like 2							116.0	114.0	115.0					7																	76828505		2203	4300	6503	SO:0001819	synonymous_variant	10875				signal transduction	fibrinogen complex	receptor binding	g.chr7:76828505T>A	Z36531	CCDS5591.1	7q11.23	2013-02-06			ENSG00000127951	ENSG00000127951		"""Fibrinogen C domain containing"""	3696	protein-coding gene	gene with protein product		605351				7642106	Standard	NM_006682		Approved	pT49, T49	uc003ugb.3	Q14314	OTTHUMG00000130681	ENST00000248598.5:c.606A>T	7.37:g.76828505T>A						CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron	p.S202S	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN			1	638	-			202						Silent	SNP	ENST00000248598.5	37	c.606A>T	CCDS5591.1																																																																																				0.318	FGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253176.1	NM_006682		7	55	0	0	0	1	0	7	55				
VEPH1	79674	broad.mit.edu	37	3	157081476	157081476	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr3:157081476C>T	ENST00000362010.2	-	9	1719	c.1412G>A	c.(1411-1413)gGa>gAa	p.G471E	VEPH1_ENST00000543418.1_Missense_Mutation_p.G471E|VEPH1_ENST00000392832.2_Missense_Mutation_p.G471E|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392833.2_Missense_Mutation_p.G471E	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	471						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TGGTATGTCTCCCCTGTTTTC	0.468																																						ENST00000362010.2																			0				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1411-1413)gGa>gAa		ventricular zone expressed PH domain-containing 1							85.0	87.0	86.0					3																	157081476		2203	4300	6503	SO:0001583	missense	79674					plasma membrane		g.chr3:157081476C>T	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.1412G>A	3.37:g.157081476C>T	ENSP00000354919:p.Gly471Glu					VEPH1_ENST00000392832.2_Missense_Mutation_p.G471E|VEPH1_ENST00000392833.2_Missense_Mutation_p.G471E|VEPH1_ENST00000543418.1_Missense_Mutation_p.G471E|RP11-550I24.2_ENST00000487238.1_RNA	p.G471E	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		9	1719	-			471					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	ENST00000362010.2	37	c.1412G>A	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	C	9.968	1.224584	0.22457	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832	T;T;T;T	0.08008	3.14;3.15;3.14;3.15	5.37	0.45	0.16624	.	1.248110	0.05256	N	0.514965	T	0.04679	0.0127	N	0.11560	0.145	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.43475	-0.9389	10	0.20519	T	0.43	-37.2348	6.159	0.20354	0.0:0.4499:0.2703:0.2798	.	471;471	Q14D04-2;Q14D04	.;MELT_HUMAN	E	471	ENSP00000376578:G471E;ENSP00000354919:G471E;ENSP00000446258:G471E;ENSP00000376577:G471E	ENSP00000354919:G471E	G	-	2	0	VEPH1	158564170	0.031000	0.19500	0.000000	0.03702	0.015000	0.08874	0.325000	0.19628	0.253000	0.21552	0.650000	0.86243	GGA		0.468	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		12	64	0	0	0	1	0	12	64				
GANC	2595	broad.mit.edu	37	15	42598785	42598785	+	Silent	SNP	A	A	G			TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr15:42598785A>G	ENST00000318010.8	+	7	840	c.600A>G	c.(598-600)ggA>ggG	p.G200G	GANC_ENST00000566442.1_Silent_p.G200G	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	200					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	AGAAATTTGGAAAATTTGTGG	0.328																																						ENST00000318010.8																			0				breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(598-600)ggA>ggG		glucosidase, alpha; neutral C							87.0	88.0	88.0					15																	42598785		2203	4299	6502	SO:0001819	synonymous_variant	2595				carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity	g.chr15:42598785A>G	AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.600A>G	15.37:g.42598785A>G						GANC_ENST00000566442.1_Silent_p.G200G	p.G200G	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN		GBM - Glioblastoma multiforme(94;1.06e-06)	7	840	+		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)	200					Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Silent	SNP	ENST00000318010.8	37	c.600A>G	CCDS10084.1																																																																																				0.328	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	NM_198141		5	24	0	0	0	1	0	5	24				
USP9X	8239	broad.mit.edu	37	X	41075904	41075904	+	Splice_Site	SNP	C	C	T	rs146661515		TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chrX:41075904C>T	ENST00000324545.8	+	35	6717	c.6084C>T	c.(6082-6084)ccC>ccT	p.P2028P	USP9X_ENST00000378308.2_Splice_Site_p.P2028P	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2028					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ACCCTCCTCCCGGTGAGTATC	0.323													C|||	4	0.0010596	0.0	0.0	3775	,	,		15887	0.0		0.004	False		,,,				2504	0.0				Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.e35+1		ubiquitin specific peptidase 9, X-linked		C	,	0,3343		0,0,0,1386,571	33.0	30.0	31.0		6084,6084	1.7	1.0	X	dbSNP_134	31	13,6502		0,10,3,2343,1806	yes	coding-synonymous-near-splice,coding-synonymous-near-splice	USP9X	NM_001039590.2,NM_001039591.2	,	0,10,3,3729,2377	TT,TC,T,CC,C		0.1995,0.0,0.1319	,	2028/2571,2028/2555	41075904	13,9845	1957	4162	6119	SO:0001630	splice_region_variant	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41075904C>T	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.6085+1C>T	X.37:g.41075904C>T						USP9X_ENST00000378308.2_Splice_Site_p.P2028_splice	p.P2028_splice	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			35	6717	+			2028					O75550|Q8WWT3|Q8WX12	Splice_Site	SNP	ENST00000324545.8	37	c.6085_splice	CCDS43930.1																																																																																				0.323	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652	Silent	9	15	0	0	0	1	0	9	15				
ZFYVE28	57732	broad.mit.edu	37	4	2306299	2306299	+	Missense_Mutation	SNP	C	C	T	rs201300192	byFrequency	TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr4:2306299C>T	ENST00000290974.2	-	8	2107	c.1768G>A	c.(1768-1770)Gtc>Atc	p.V590I	RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.V560I|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.V520I	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	590					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GCACCAATGACGCCTCCCGGG	0.667													C|||	5	0.000998403	0.0	0.0	5008	,	,		16836	0.005		0.0	False		,,,				2504	0.0					ENST00000290974.2																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						c.(1768-1770)Gtc>Atc		zinc finger, FYVE domain containing 28							27.0	26.0	26.0					4																	2306299		2203	4298	6501	SO:0001583	missense	57732				negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr4:2306299C>T	AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"""Zinc fingers, FYVE domain containing"""	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.1768G>A	4.37:g.2306299C>T	ENSP00000290974:p.Val590Ile					RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.V520I|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.V560I	p.V590I	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN			8	2107	-			590					B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Missense_Mutation	SNP	ENST00000290974.2	37	c.1768G>A	CCDS33942.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	15.20	2.764241	0.49574	.	.	ENSG00000159733	ENST00000290974;ENST00000511071;ENST00000515312	T;T;T	0.61510	0.15;0.1;0.15	4.44	-3.19	0.05171	.	0.466058	0.22197	N	0.063297	T	0.36138	0.0956	L	0.41236	1.265	0.09310	N	1	B;B	0.17465	0.022;0.017	B;B	0.09377	0.004;0.003	T	0.11743	-1.0575	10	0.49607	T	0.09	.	1.0861	0.01653	0.2314:0.3964:0.1131:0.2591	.	560;590	Q9HCC9-2;Q9HCC9	.;LST2_HUMAN	I	590;560;520	ENSP00000290974:V590I;ENSP00000425706:V560I;ENSP00000426299:V520I	ENSP00000290974:V590I	V	-	1	0	ZFYVE28	2276097	0.002000	0.14202	0.000000	0.03702	0.122000	0.20287	-0.275000	0.08525	-1.143000	0.02866	-1.430000	0.01095	GTC		0.667	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	XM_035371		4	19	0	0	0	1	0	4	19				
MAOB	4129	broad.mit.edu	37	X	43652801	43652801	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chrX:43652801G>C	ENST00000378069.4	-	8	940	c.793C>G	c.(793-795)Cct>Gct	p.P265A	MAOB_ENST00000538942.1_Missense_Mutation_p.P249A|MAOB_ENST00000536181.1_Missense_Mutation_p.P249A	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	265					negative regulation of serotonin secretion (GO:0014063)|positive regulation of dopamine metabolic process (GO:0045964)|response to aluminum ion (GO:0010044)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|primary amine oxidase activity (GO:0008131)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Amphetamine(DB00182)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Procaine(DB00721)|Rasagiline(DB01367)|Selegiline(DB01037)|Sertraline(DB01104)|Tranylcypromine(DB00752)|Zonisamide(DB00909)	AGAGTAGGAGGAATAGCACTA	0.408																																						ENST00000378069.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21						c.(793-795)Cct>Gct		monoamine oxidase B	Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)						133.0	112.0	119.0					X																	43652801		2203	4300	6503	SO:0001583	missense	4129				xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity	g.chrX:43652801G>C		CCDS14261.1	Xp11.4-p11.3	2008-02-05			ENSG00000069535	ENSG00000069535	1.4.3.4		6834	protein-coding gene	gene with protein product		309860					Standard	NM_000898		Approved		uc004dfz.4	P27338	OTTHUMG00000021388	ENST00000378069.4:c.793C>G	X.37:g.43652801G>C	ENSP00000367309:p.Pro265Ala					MAOB_ENST00000538942.1_Missense_Mutation_p.P249A|MAOB_ENST00000536181.1_Missense_Mutation_p.P249A	p.P265A	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN			8	940	-			265					B2R6R3|B7Z5H3|D3DWC3|Q7Z6S2	Missense_Mutation	SNP	ENST00000378069.4	37	c.793C>G	CCDS14261.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466050	0.84425	.	.	ENSG00000069535	ENST00000378069;ENST00000536181;ENST00000538942	D;D;D	0.96073	-3.9;-3.9;-3.9	5.97	5.97	0.96955	Amine oxidase (1);	0.000000	0.85682	D	0.000000	D	0.97766	0.9267	M	0.82630	2.6	0.80722	D	1	D;D	0.67145	0.993;0.996	P;D	0.65443	0.894;0.935	D	0.97994	1.0356	10	0.62326	D	0.03	-16.9599	19.371	0.94484	0.0:0.0:1.0:0.0	.	249;265	B7Z5H3;P27338	.;AOFB_HUMAN	A	265;249;249	ENSP00000367309:P265A;ENSP00000441613:P249A;ENSP00000442240:P249A	ENSP00000367309:P265A	P	-	1	0	MAOB	43537745	1.000000	0.71417	0.994000	0.49952	0.948000	0.59901	7.316000	0.79007	2.527000	0.85204	0.600000	0.82982	CCT		0.408	MAOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056303.1	NM_000898		12	15	0	0	0	1	0	12	15				
ATP13A2	23400	broad.mit.edu	37	1	17314696	17314696	+	Silent	SNP	G	G	A			TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr1:17314696G>A	ENST00000326735.8	-	25	2829	c.2796C>T	c.(2794-2796)agC>agT	p.S932S	ATP13A2_ENST00000452699.1_Silent_p.S927S|ATP13A2_ENST00000341676.5_Silent_p.S888S|RP1-37C10.3_ENST00000446261.1_RNA			Q9NQ11	AT132_HUMAN	ATPase type 13A2	932					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		ACTTGAAGACGCTGAACGAAG	0.607																																						ENST00000452699.1																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2779-2781)agC>agT		ATPase type 13A2							145.0	129.0	134.0					1																	17314696		2203	4300	6503	SO:0001819	synonymous_variant	23400				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr1:17314696G>A	AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"""ATPases / P-type"", ""Parkinson disease"""	30213	protein-coding gene	gene with protein product		610513	"""Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"""	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.2796C>T	1.37:g.17314696G>A						RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Silent_p.S888S|ATP13A2_ENST00000326735.8_Silent_p.S932S	p.S927S	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	25	2970	-		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	932					O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Silent	SNP	ENST00000326735.8	37	c.2781C>T	CCDS175.1																																																																																				0.607	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1	NM_022089		9	30	0	0	0	1	0	9	30				
ZNF702P	79986	broad.mit.edu	37	19	53472914	53472914	+	RNA	SNP	A	A	G			TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr19:53472914A>G	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							TTTGATTTTCAATTAAAAACC	0.338																																						ENST00000600068.1																			0																																																			0							g.chr19:53472914A>G																													19.37:g.53472914A>G						ZNF702P_ENST00000270443.4_RNA								0	489	-									RNA	SNP	ENST00000600068.1	37																																																																																						0.338	CTD-2620I22.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000463881.1			3	21	0	0	0	1	0	3	21				
RSPO1	284654	broad.mit.edu	37	1	38079477	38079477	+	Missense_Mutation	SNP	C	C	T	rs143117795		TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr1:38079477C>T	ENST00000401069.1	-	6	1236	c.524G>A	c.(523-525)cGg>cAg	p.R175Q	RSPO1_ENST00000356545.2_Missense_Mutation_p.R175Q|RSPO1_ENST00000401071.2_Intron|RSPO1_ENST00000401070.1_Intron|RSPO1_ENST00000373059.1_Missense_Mutation_p.R148Q|RSPO1_ENST00000401068.1_Missense_Mutation_p.R175Q	NM_001242908.1	NP_001229837.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	175	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				canonical Wnt signaling pathway (GO:0060070)|male meiosis (GO:0007140)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of gene expression (GO:0010468)|regulation of male germ cell proliferation (GO:2000254)|regulation of receptor internalization (GO:0002090)	extracellular space (GO:0005615)|nucleus (GO:0005634)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCTGCGTGTCCGCTCCTCGGA	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		18533	0.0		0.001	False		,,,				2504	0.0				GBM(122;680 2230 27822 42821)	ENST00000356545.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12						c.(523-525)cGg>cAg		R-spondin 1							47.0	52.0	50.0					1																	38079477		2009	4177	6186	SO:0001583	missense	284654				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding	g.chr1:38079477C>T	AK098225	CCDS41304.1, CCDS55590.1, CCDS55591.1	1p34.2	2014-01-30	2011-06-29		ENSG00000169218	ENSG00000169218		"""Endogenous ligands"""	21679	protein-coding gene	gene with protein product		609595	"""R-spondin homolog (Xenopus laevis)"""				Standard	NM_001038633		Approved	FLJ40906, RSPONDIN	uc001cbm.2	Q2MKA7	OTTHUMG00000004321	ENST00000401069.1:c.524G>A	1.37:g.38079477C>T	ENSP00000383847:p.Arg175Gln					RSPO1_ENST00000401071.2_Intron|RSPO1_ENST00000373059.1_Missense_Mutation_p.R148Q|RSPO1_ENST00000401070.1_Intron|RSPO1_ENST00000401068.1_Missense_Mutation_p.R175Q|RSPO1_ENST00000401069.1_Missense_Mutation_p.R175Q	p.R175Q	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN			7	1311	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	175			TSP type-1.		A2A420|Q0H8S6|Q14C72|Q5T0F2|Q8N7L5	Missense_Mutation	SNP	ENST00000401069.1	37	c.524G>A	CCDS41304.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	37	5.978209	0.97168	.	.	ENSG00000169218	ENST00000373059;ENST00000356545;ENST00000401069;ENST00000401068	T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41	5.42	5.42	0.78866	.	0.129106	0.53938	D	0.000048	D	0.92515	0.7623	M	0.92412	3.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.93768	0.7072	10	0.87932	D	0	.	19.6053	0.95577	0.0:1.0:0.0:0.0	.	148;175	Q2MKA7-2;Q2MKA7	.;RSPO1_HUMAN	Q	148;175;175;175	ENSP00000362150:R148Q;ENSP00000348944:R175Q;ENSP00000383847:R175Q;ENSP00000383846:R175Q	ENSP00000348944:R175Q	R	-	2	0	RSPO1	37852064	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.063000	0.76714	2.711000	0.92665	0.655000	0.94253	CGG		0.637	RSPO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012477.2	NM_173640		8	49	0	0	0	1	0	8	49				
LRRC36	55282	broad.mit.edu	37	16	67384185	67384185	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr16:67384185T>C	ENST00000329956.6	+	5	588	c.569T>C	c.(568-570)aTt>aCt	p.I190T	LRRC36_ENST00000435835.3_Missense_Mutation_p.I69T|LRRC36_ENST00000541146.1_5'UTR|LRRC36_ENST00000563189.1_Missense_Mutation_p.I69T|LRRC36_ENST00000563303.1_3'UTR|LRRC36_ENST00000290940.7_5'UTR	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	190										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		GACAGCAGGATTGAAATGGGT	0.378																																						ENST00000329956.6																			0				endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24						c.(568-570)aTt>aCt		leucine rich repeat containing 36							138.0	144.0	142.0					16																	67384185		2198	4300	6498	SO:0001583	missense	55282							g.chr16:67384185T>C	BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.569T>C	16.37:g.67384185T>C	ENSP00000329943:p.Ile190Thr					LRRC36_ENST00000563303.1_3'UTR|LRRC36_ENST00000290940.7_5'UTR|LRRC36_ENST00000541146.1_5'UTR|LRRC36_ENST00000563189.1_Missense_Mutation_p.I69T|LRRC36_ENST00000435835.3_Missense_Mutation_p.I69T	p.I190T	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)	5	588	+		Ovarian(137;0.192)	190					A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Missense_Mutation	SNP	ENST00000329956.6	37	c.569T>C	CCDS32467.1	.	.	.	.	.	.	.	.	.	.	T	13.69	2.313554	0.40996	.	.	ENSG00000159708	ENST00000329956;ENST00000435835	T;T	0.34667	3.16;1.35	5.51	3.27	0.37495	.	0.744519	0.13074	N	0.415893	T	0.19886	0.0478	N	0.22421	0.69	0.80722	D	1	B;B;B	0.30281	0.275;0.002;0.001	B;B;B	0.28232	0.087;0.005;0.003	T	0.03673	-1.1014	10	0.08179	T	0.78	0.115	7.0519	0.25077	0.0:0.1798:0.0:0.8202	.	69;69;190	B7Z7B3;Q1X8D7-2;Q1X8D7	.;.;LRC36_HUMAN	T	190;69	ENSP00000329943:I190T;ENSP00000411122:I69T	ENSP00000329943:I190T	I	+	2	0	LRRC36	65941686	0.818000	0.29161	0.724000	0.30704	0.928000	0.56348	-0.116000	0.10724	0.391000	0.25143	0.459000	0.35465	ATT		0.378	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421770.1	NM_018296		14	77	0	0	0	1	0	14	77				
CPT1B	1375	broad.mit.edu	37	22	51009808	51009808	+	Missense_Mutation	SNP	A	A	C			TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr22:51009808A>C	ENST00000360719.2	-	14	1873	c.1736T>G	c.(1735-1737)tTc>tGc	p.F579C	CPT1B_ENST00000434492.2_Missense_Mutation_p.F374C|CPT1B_ENST00000405237.3_Missense_Mutation_p.F579C|CPT1B_ENST00000457250.1_Missense_Mutation_p.F545C|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000440709.1_Missense_Mutation_p.F498C|CPT1B_ENST00000312108.7_Missense_Mutation_p.F579C|CPT1B_ENST00000395650.2_Missense_Mutation_p.F579C	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	579					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		TCCTACCCGGAAGTGAGCCAG	0.602																																					Esophageal Squamous(170;988 1933 25577 30295 48163)	ENST00000360719.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1735-1737)tTc>tGc		carnitine palmitoyltransferase 1B (muscle)							65.0	60.0	62.0					22																	51009808		2203	4300	6503	SO:0001583	missense	1375				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr22:51009808A>C	U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.1736T>G	22.37:g.51009808A>C	ENSP00000353945:p.Phe579Cys					CPT1B_ENST00000440709.1_Missense_Mutation_p.F498C|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000457250.1_Missense_Mutation_p.F545C|CPT1B_ENST00000405237.3_Missense_Mutation_p.F579C|CPT1B_ENST00000434492.2_Missense_Mutation_p.F374C|CPT1B_ENST00000395650.2_Missense_Mutation_p.F579C|CPT1B_ENST00000312108.7_Missense_Mutation_p.F579C	p.F579C	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)	14	1873	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	579					B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	ENST00000360719.2	37	c.1736T>G	CCDS14098.1	.	.	.	.	.	.	.	.	.	.	A	17.57	3.423582	0.62733	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000434492;ENST00000395650	D;D;D;D;D;D;D	0.91237	-2.81;-2.81;-2.81;-2.81;-2.81;-2.81;-2.81	5.31	5.31	0.75309	.	0.101651	0.64402	D	0.000001	D	0.95667	0.8591	M	0.92169	3.28	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.998;0.999	D;D;D;D	0.75484	0.979;0.986;0.976;0.981	D	0.95827	0.8855	10	0.87932	D	0	-32.5462	8.5639	0.33527	0.8286:0.0:0.0:0.1714	.	498;545;374;579	E9PCP2;B7Z4U4;A2RRE8;Q92523	.;.;.;CPT1B_HUMAN	C	579;579;579;545;498;374;579	ENSP00000385486:F579C;ENSP00000312189:F579C;ENSP00000353945:F579C;ENSP00000409342:F545C;ENSP00000414713:F498C;ENSP00000410966:F374C;ENSP00000379011:F579C	ENSP00000312189:F579C	F	-	2	0	CPT1B	49356674	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	2.950000	0.49081	2.234000	0.73211	0.459000	0.35465	TTC		0.602	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	NM_152246		16	55	0	0	0	1	0	16	55				
PRAMEF11	440560	broad.mit.edu	37	1	12887677	12887677	+	Silent	SNP	A	A	G			TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr1:12887677A>G	ENST00000535591.1	-	3	375	c.180T>C	c.(178-180)ctT>ctC	p.L60L		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	60					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						CCAGCACTTGAAGTTTCCATC	0.463																																						ENST00000535591.1																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(178-180)ctT>ctC		PRAME family member 11																																				SO:0001819	synonymous_variant	440560							g.chr1:12887677A>G	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.180T>C	1.37:g.12887677A>G							p.L60L	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			3	375	-			60						Silent	SNP	ENST00000535591.1	37	c.180T>C	CCDS53268.1																																																																																				0.463	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		4	186	0	0	0	1	0	4	186				
CFAP97	57587	broad.mit.edu	37	4	186085310	186085310	+	Silent	SNP	G	G	A	rs374532666	byFrequency	TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr4:186085310G>A	ENST00000458385.2	-	4	1463	c.1344C>T	c.(1342-1344)gcC>gcT	p.A448A		NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		448										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		TTGGTTTCACGGCCTCAAGCC	0.393													G|||	4	0.000798722	0.0	0.0	5008	,	,		18370	0.0		0.0	False		,,,				2504	0.0041					ENST00000458385.2																			0				endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11						c.(1342-1344)gcC>gcT		KIAA1430		G		0,3780		0,0,1890	117.0	109.0	112.0		1344	1.4	1.0	4		112	1,8223		0,1,4111	no	coding-synonymous	KIAA1430	NM_020827.1		0,1,6001	AA,AG,GG		0.0122,0.0,0.0083		448/533	186085310	1,12003	1890	4112	6002	SO:0001819	synonymous_variant	57587							g.chr4:186085310G>A																												ENST00000458385.2:c.1344C>T	4.37:g.186085310G>A							p.A448A	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)	4	1463	-		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	448					B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	Silent	SNP	ENST00000458385.2	37	c.1344C>T	CCDS47168.1																																																																																				0.393	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360717.2			7	26	0	0	0	1	0	7	26				
ZFP3	124961	broad.mit.edu	37	17	4996197	4996197	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr17:4996197A>G	ENST00000318833.3	+	2	1734	c.1398A>G	c.(1396-1398)atA>atG	p.I466M		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	466					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)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						AACTTATCATACATCAGAGAA	0.423																																						ENST00000318833.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						c.(1396-1398)atA>atG		ZFP3 zinc finger protein							72.0	73.0	73.0					17																	4996197		2203	4300	6503	SO:0001583	missense	124961				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:4996197A>G	BX647638	CCDS11067.1	17p13.2	2013-01-08	2012-11-27		ENSG00000180787	ENSG00000180787		"""Zinc fingers, C2H2-type"""	12861	protein-coding gene	gene with protein product		194480	"""zinc finger protein homologous to Zfp-3 in mouse"", ""zinc finger protein 3 homolog (mouse)"""				Standard	NM_153018		Approved	FLJ30726, ZNF752	uc002gaq.3	Q96NJ6		ENST00000318833.3:c.1398A>G	17.37:g.4996197A>G	ENSP00000320347:p.Ile466Met						p.I466M	NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN			2	1734	+			466					A5PLL4	Missense_Mutation	SNP	ENST00000318833.3	37	c.1398A>G	CCDS11067.1	.	.	.	.	.	.	.	.	.	.	A	8.133	0.783564	0.16189	.	.	ENSG00000180787	ENST00000318833	T	0.18016	2.24	4.01	-5.51	0.02568	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39274	N	0.001401	T	0.13927	0.0337	L	0.28504	0.86	0.20196	N	0.999924	P	0.51147	0.942	P	0.50490	0.642	T	0.11299	-1.0593	10	0.48119	T	0.1	-11.2091	10.2871	0.43573	0.1569:0.6348:0.0:0.2083	.	466	Q96NJ6	ZFP3_HUMAN	M	466	ENSP00000320347:I466M	ENSP00000320347:I466M	I	+	3	3	ZFP3	4936921	0.000000	0.05858	0.088000	0.20740	0.998000	0.95712	-3.253000	0.00539	-1.080000	0.03109	0.528000	0.53228	ATA		0.423	ZFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438979.1	NM_153018		10	48	0	0	0	1	0	10	48				
ESYT1	23344	broad.mit.edu	37	12	56527593	56527593	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr12:56527593C>T	ENST00000394048.5	+	13	1673	c.1409C>T	c.(1408-1410)tCt>tTt	p.S470F	ESYT1_ENST00000267113.4_Missense_Mutation_p.S470F|ESYT1_ENST00000541590.1_Missense_Mutation_p.S470F	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	470	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						GGAGTCTCCTCTCGACCAGAT	0.552																																						ENST00000394048.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						c.(1408-1410)tCt>tTt		extended synaptotagmin-like protein 1							108.0	103.0	105.0					12																	56527593		2203	4300	6503	SO:0001583	missense	23344					integral to membrane		g.chr12:56527593C>T	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.1409C>T	12.37:g.56527593C>T	ENSP00000377612:p.Ser470Phe					ESYT1_ENST00000267113.4_Missense_Mutation_p.S470F|ESYT1_ENST00000541590.1_Missense_Mutation_p.S470F	p.S470F	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN			13	1673	+			470			C2 2.		A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	ENST00000394048.5	37	c.1409C>T	CCDS8904.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.523987	0.64747	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	T;T;T	0.57752	0.38;0.38;0.38	5.39	4.5	0.54988	.	0.330767	0.30890	N	0.008680	T	0.56834	0.2012	N	0.22421	0.69	0.41700	D	0.989398	D;D	0.76494	0.999;0.996	D;P	0.74348	0.983;0.823	T	0.61073	-0.7136	10	0.62326	D	0.03	-15.1881	11.4248	0.50004	0.0:0.9149:0.0:0.0851	.	470;470	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	F	470;424;470;470	ENSP00000377612:S470F;ENSP00000267113:S470F;ENSP00000445952:S470F	ENSP00000267113:S470F	S	+	2	0	ESYT1	54813860	0.997000	0.39634	0.992000	0.48379	0.961000	0.63080	4.266000	0.58871	1.422000	0.47177	0.563000	0.77884	TCT		0.552	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		6	72	0	0	0	1	0	6	72				
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G	rs187344612		TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1				BMS1 pseudogene 20																		GTCTTCATGCAAACTTGGTAT	0.398																																						ENST00000426066.1																			0																																																			0							g.chr22:22664606A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664606A>G								NR_027293.1						0	787	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.398	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	18	0	0	0	1	0	3	18				
CACNA1E	777	broad.mit.edu	37	1	181721292	181721292	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr1:181721292C>T	ENST00000367573.2	+	27	3745	c.3745C>T	c.(3745-3747)Cgg>Tgg	p.R1249W	CACNA1E_ENST00000367567.4_Missense_Mutation_p.R856W|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1181W|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1200W|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1230W|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R1230W|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1249W	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1249					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CAACAAAGGACGGGACATCAA	0.483																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(3688-3690)Cgg>Tgg		calcium channel, voltage-dependent, R type, alpha 1E subunit							108.0	105.0	106.0					1																	181721292		1898	4122	6020	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181721292C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.3745C>T	1.37:g.181721292C>T	ENSP00000356545:p.Arg1249Trp					CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1181W|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1249W|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R856W|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1230W|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1200W|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R1249W	p.R1230W	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			26	3853	+			1249			Poly-Val.		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.3688C>T	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.211391	0.79240	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.97553	-4.01;-4.01;-4.0;-4.01;-4.43;-4.0;-3.99	5.72	4.8	0.61643	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97570	0.9204	L	0.46157	1.445	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.74674	0.972;0.983;0.984	D	0.98645	1.0677	10	0.87932	D	0	.	16.3053	0.82846	0.1331:0.8669:0.0:0.0	.	1230;1249;1249	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	W	1249;1230;1200;1181;856;1230;1249	ENSP00000356542:R1249W;ENSP00000434814:R1230W;ENSP00000350183:R1200W;ENSP00000351101:R1181W;ENSP00000356539:R856W;ENSP00000353222:R1230W;ENSP00000356545:R1249W	ENSP00000350183:R1200W	R	+	1	2	CACNA1E	179987915	0.625000	0.27111	0.797000	0.32132	0.992000	0.81027	1.228000	0.32588	1.535000	0.49220	0.655000	0.94253	CGG		0.483	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		8	53	0	0	0	1	0	8	53				
GTF2H3	2967	broad.mit.edu	37	12	124139496	124139496	+	Missense_Mutation	SNP	C	C	T	rs374279157		TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr12:124139496C>T	ENST00000543341.2	+	8	543	c.512C>T	c.(511-513)gCg>gTg	p.A171V	GTF2H3_ENST00000228955.7_Missense_Mutation_p.A130V	NM_001271867.1|NM_001516.3	NP_001258796.1|NP_001507.2	Q13889	TF2H3_HUMAN	general transcription factor IIH, polypeptide 3, 34kDa	171					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|translation (GO:0006412)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)		GAAGACAGTGCGTTGCAGTAT	0.428								Nucleotide excision repair (NER)																													Melanoma(176;111 2022 3038 14733 36962)	ENST00000543341.2																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	10						c.(511-513)gCg>gTg	Nucleotide excision repair (NER)	general transcription factor IIH, polypeptide 3, 34kDa							222.0	183.0	196.0					12																	124139496		2203	4300	6503	SO:0001583	missense	2967				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	core TFIIH complex|holo TFIIH complex	damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding	g.chr12:124139496C>T	Z30093	CCDS9252.1, CCDS61275.1, CCDS73544.1	12q24.31	2012-11-05	2002-08-29		ENSG00000111358	ENSG00000111358		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4657	protein-coding gene	gene with protein product		601750	"""general transcription factor IIH, polypeptide 3 (34kD subunit)"""			8194529	Standard	NM_001516		Approved	BTF2, TFIIH, P34	uc001ufo.2	Q13889	OTTHUMG00000168697	ENST00000543341.2:c.512C>T	12.37:g.124139496C>T	ENSP00000445162:p.Ala171Val					GTF2H3_ENST00000228955.7_Missense_Mutation_p.A130V	p.A171V	NM_001271867.1|NM_001516.3	NP_001258796.1|NP_001507.2	Q13889	TF2H3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)	8	543	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		171					B2R819|B4DNZ6|Q7L0G0|Q96AT7	Missense_Mutation	SNP	ENST00000543341.2	37	c.512C>T	CCDS9252.1	.	.	.	.	.	.	.	.	.	.	C	35	5.492126	0.96339	.	.	ENSG00000111358	ENST00000539994;ENST00000538845;ENST00000228955;ENST00000543341;ENST00000542231;ENST00000543154	.	.	.	5.91	5.91	0.95273	.	0.057084	0.64402	D	0.000001	T	0.78773	0.4336	M	0.77616	2.38	0.54753	D	0.999985	D	0.69078	0.997	P	0.61658	0.892	T	0.80484	-0.1362	9	0.87932	D	0	.	18.5356	0.91009	0.0:1.0:0.0:0.0	.	171	Q13889	TF2H3_HUMAN	V	161;186;130;171;121;75	.	ENSP00000228955:A130V	A	+	2	0	GTF2H3	122705449	1.000000	0.71417	0.266000	0.24541	0.972000	0.66771	7.445000	0.80570	2.812000	0.96745	0.558000	0.71614	GCG		0.428	GTF2H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400641.2	NM_001516		15	46	0	0	0	1	0	15	46				
DMBT1	1755	broad.mit.edu	37	10	124358571	124358571	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr10:124358571C>T	ENST00000338354.3	+	26	3344	c.3238C>T	c.(3238-3240)Cac>Tac	p.H1080Y	DMBT1_ENST00000330163.4_Missense_Mutation_p.H581Y|DMBT1_ENST00000344338.3_Missense_Mutation_p.H1070Y|DMBT1_ENST00000368955.3_Missense_Mutation_p.H1070Y|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Missense_Mutation_p.H581Y|DMBT1_ENST00000368909.3_Missense_Mutation_p.H1080Y			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1080	SRCR 8. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTGGCTCTCCCACAACTGTGG	0.567																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000368909.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(3238-3240)Cac>Tac		deleted in malignant brain tumors 1							101.0	96.0	97.0					10																	124358571		1929	4139	6068	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124358571C>T		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.3238C>T	10.37:g.124358571C>T	ENSP00000342210:p.His1080Tyr					DMBT1_ENST00000344338.3_Missense_Mutation_p.H1070Y|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Missense_Mutation_p.H581Y|DMBT1_ENST00000330163.4_Missense_Mutation_p.H581Y|DMBT1_ENST00000368955.3_Missense_Mutation_p.H1070Y|DMBT1_ENST00000338354.3_Missense_Mutation_p.H1080Y	p.H1080Y	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN			26	3344	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	1080			SRCR 8.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.3238C>T		.	.	.	.	.	.	.	.	.	.	C	11.45	1.642087	0.29157	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956	T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85	3.57	0.434	0.16539	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.408720	0.04936	N	0.457790	T	0.72479	0.3465	M	0.91663	3.23	0.27430	N	0.954031	D;D;D;B;B	0.76494	0.999;0.983;0.997;0.01;0.049	D;P;D;B;B	0.85130	0.997;0.777;0.983;0.015;0.026	T	0.49457	-0.8938	10	0.44086	T	0.13	.	6.2592	0.20891	0.1474:0.6859:0.0:0.1667	.	587;1080;581;1070;1080	Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;DMBT1_HUMAN	Y	1080;1080;1080;1080;1080;1080;581;1070;581;581;1080;1070;581	ENSP00000342210:H1080Y;ENSP00000343175:H1070Y;ENSP00000327747:H581Y;ENSP00000357905:H1080Y;ENSP00000357951:H1070Y;ENSP00000357952:H581Y	ENSP00000331522:H581Y	H	+	1	0	DMBT1	124348561	0.001000	0.12720	0.000000	0.03702	0.008000	0.06430	0.758000	0.26447	-0.147000	0.11254	0.558000	0.71614	CAC		0.567	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		25	111	0	0	0	1	0	25	111				
IFNLR1	163702	broad.mit.edu	37	1	24483789	24483789	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr1:24483789G>A	ENST00000327535.1	-	7	1406	c.1394C>T	c.(1393-1395)cCc>cTc	p.P465L	IFNLR1_ENST00000327575.2_3'UTR|IFNLR1_ENST00000374421.3_Missense_Mutation_p.P436L	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1	Q8IU57	INLR1_HUMAN	interferon, lambda receptor 1	465					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mucosal immune response (GO:0002385)|negative regulation of cell proliferation (GO:0008285)|regulation of defense response to virus by host (GO:0050691)|response to type III interferon (GO:0034342)	integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)											AGAAACTGGGGGTCCCCCAGG	0.597																																						ENST00000327535.1																			0											c.(1393-1395)cCc>cTc		interferon, lambda receptor 1							58.0	67.0	64.0					1																	24483789		2203	4300	6503	SO:0001583	missense	163702							g.chr1:24483789G>A	AY129153	CCDS248.1, CCDS249.1, CCDS250.1	1p36.11	2012-11-27	2012-11-26	2012-11-26	ENSG00000185436	ENSG00000185436		"""Interferons"""	18584	protein-coding gene	gene with protein product	"""interferon lambda receptor 1"""	607404	"""interleukin 28 receptor, alpha"", ""interleukin 28 receptor, alpha (interferon, lambda receptor)"""	IL28RA			Standard	NM_173064		Approved	CRF2/12, IFNLR, IL-28R1	uc001bis.3	Q8IU57	OTTHUMG00000003036	ENST00000327535.1:c.1394C>T	1.37:g.24483789G>A	ENSP00000327824:p.Pro465Leu					IFNLR1_ENST00000327575.2_3'UTR|IFNLR1_ENST00000374421.3_Missense_Mutation_p.P436L	p.P465L	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1					7	1406	-								Q5VTX5|Q5VTX7|Q5VTX8|Q6ZML8|Q8IV66|Q8IZI7|Q8IZI8	Missense_Mutation	SNP	ENST00000327535.1	37	c.1394C>T	CCDS248.1	.	.	.	.	.	.	.	.	.	.	G	6.425	0.446623	0.12223	.	.	ENSG00000185436	ENST00000327535;ENST00000374421	.	.	.	5.59	3.73	0.42828	.	0.560616	0.17739	N	0.163622	T	0.45657	0.1353	L	0.31926	0.97	0.45747	D	0.998642	B;B	0.20550	0.027;0.046	B;B	0.22601	0.018;0.04	T	0.37776	-0.9691	9	0.56958	D	0.05	-6.3435	9.3044	0.37865	0.1676:0.0:0.8324:0.0	.	465;436	Q8IU57;Q8IU57-2	I28RA_HUMAN;.	L	465;436	.	ENSP00000327824:P465L	P	-	2	0	IL28RA	24356376	0.990000	0.36364	0.514000	0.27761	0.071000	0.16799	1.504000	0.35726	0.841000	0.35020	-0.254000	0.11334	CCC		0.597	IFNLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008402.1	NM_170743		12	67	0	0	0	1	0	12	67				
SMARCAL1	50485	broad.mit.edu	37	2	217347605	217347605	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr2:217347605G>A	ENST00000357276.4	+	18	3100	c.2770G>A	c.(2770-2772)Gac>Aac	p.D924N	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.D924N|AC098820.4_ENST00000414135.1_RNA|AC098820.3_ENST00000453157.1_RNA	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	924					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		GAACATGGGAGACACCCTGGA	0.468									Schimke Immuno-Osseous Dysplasia																													ENST00000357276.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42						c.(2770-2772)Gac>Aac		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1							109.0	116.0	114.0					2																	217347605		2203	4300	6503	SO:0001583	missense	50485	Schimke Immuno-Osseous Dysplasia	Familial Cancer Database	SIOD	chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity	g.chr2:217347605G>A	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"""HepA-related protein"", ""ATP-driven annealing helicase"""	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.2770G>A	2.37:g.217347605G>A	ENSP00000349823:p.Asp924Asn					AC098820.3_ENST00000453157.1_RNA|SMARCAL1_ENST00000358207.5_Missense_Mutation_p.D924N	p.D924N	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)	18	3100	+		Renal(323;0.0458)	924					A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP	ENST00000357276.4	37	c.2770G>A	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.965988	0.53507	.	.	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000392128	D;D;D	0.85955	-2.05;-2.05;-2.05	4.24	3.34	0.38264	.	0.681387	0.13793	N	0.362400	D	0.88883	0.6558	M	0.68317	2.08	0.09310	N	1	D	0.71674	0.998	P	0.59115	0.852	T	0.79371	-0.1831	10	0.51188	T	0.08	-3.8877	10.6635	0.45717	0.0:0.0:0.8078:0.1922	.	924	Q9NZC9	SMAL1_HUMAN	N	924;924;766	ENSP00000349823:D924N;ENSP00000350940:D924N;ENSP00000375974:D766N	ENSP00000349823:D924N	D	+	1	0	SMARCAL1	217055850	0.002000	0.14202	0.007000	0.13788	0.459000	0.32528	0.931000	0.28871	1.090000	0.41315	0.563000	0.77884	GAC		0.468	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2			27	97	0	0	0	1	0	27	97				
MICAL2	9645	broad.mit.edu	37	11	12257790	12257790	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr11:12257790G>A	ENST00000256194.4	+	16	2350	c.2062G>A	c.(2062-2064)Gag>Aag	p.E688K	MICAL2_ENST00000379612.3_Missense_Mutation_p.E688K|MICAL2_ENST00000537344.1_Missense_Mutation_p.E688K|MICAL2_ENST00000342902.5_Missense_Mutation_p.E688K|MICAL2_ENST00000527546.1_Missense_Mutation_p.E688K	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	688					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CAACCTGGACGAGGTTTGTGT	0.552											OREG0020771	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000256194.4																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47						c.(2062-2064)Gag>Aag		microtubule associated monooxygenase, calponin and LIM domain containing 2							155.0	116.0	129.0					11																	12257790		2201	4294	6495	SO:0001583	missense	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12257790G>A	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.2062G>A	11.37:g.12257790G>A	ENSP00000256194:p.Glu688Lys		OREG0020771	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	678	MICAL2_ENST00000527546.1_Missense_Mutation_p.E688K|MICAL2_ENST00000342902.5_Missense_Mutation_p.E688K|MICAL2_ENST00000537344.1_Missense_Mutation_p.E688K|MICAL2_ENST00000379612.3_Missense_Mutation_p.E688K	p.E688K	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	16	2350	+			688					B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	c.2062G>A	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.861742	0.51482	.	.	ENSG00000133816	ENST00000537344;ENST00000544073;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	T;T;T;T;T	0.64260	-0.01;-0.07;-0.01;-0.09;0.09	5.39	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.57770	0.2076	L	0.58101	1.795	0.53005	D	0.999968	P;P;P;B;P;P	0.51791	0.525;0.75;0.948;0.017;0.936;0.5	B;B;B;B;B;B	0.41374	0.085;0.165;0.355;0.004;0.242;0.251	T	0.59434	-0.7455	10	0.33141	T	0.24	.	14.3305	0.66553	0.0:0.1495:0.8505:0.0	.	221;688;688;688;688;688	B4DYS3;G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;.;MICA2_HUMAN	K	688;221;688;688;688;688	ENSP00000441689:E688K;ENSP00000256194:E688K;ENSP00000433965:E688K;ENSP00000344894:E688K;ENSP00000368932:E688K	ENSP00000256194:E688K	E	+	1	0	MICAL2	12214366	1.000000	0.71417	0.792000	0.32020	0.060000	0.15804	3.480000	0.53172	1.398000	0.46701	-0.150000	0.13652	GAG		0.552	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		10	43	0	0	0	1	0	10	43				
PFN2	5217	broad.mit.edu	37	3	149769406	149769407	+	5'Flank	INS	-	-	C			TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr3:149769406_149769407insC	ENST00000497148.1	-	0	0				RP11-167H9.4_ENST00000487840.1_RNA			P35080	PROF2_HUMAN	profilin 2						actin cytoskeleton organization (GO:0030036)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of ATPase activity (GO:0032781)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|regulation of synaptic vesicle exocytosis (GO:2000300)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|terminal bouton (GO:0043195)	actin monomer binding (GO:0003785)|adenyl-nucleotide exchange factor activity (GO:0000774)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			caagcaattctctgcctcagcc	0.515																																						ENST00000487840.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr3:149769406_149769407insC	L10678	CCDS3148.1, CCDS46934.1	3q25.1	2006-10-16			ENSG00000070087	ENSG00000070087			8882	protein-coding gene	gene with protein product		176590				8975700, 8365484	Standard	NM_002628		Approved		uc003ext.1	P35080	OTTHUMG00000159683		3.37:g.149769407_149769407dupC	Exception_encountered													0	46	+								B2R4C8|D3DNI4|Q4VBQ4|Q8WVF9|Q9HBK2	RNA	INS	ENST00000497148.1	37																																																																																						0.515	PFN2-018	PUTATIVE	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000357104.1	NM_002628		2	4						2	4	---	---	---	---
RP11-53I6.2	0	broad.mit.edu	37	18	29656287	29656288	+	RNA	INS	-	-	T	rs566452118		TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr18:29656287_29656288insT	ENST00000583184.1	+	0	539																											ttgtttttttgttttttttttg	0.441																																						ENST00000583184.1																			0																																																			0							g.chr18:29656287_29656288insT																													18.37:g.29656297_29656297dupT														0	539	+									RNA	INS	ENST00000583184.1	37																																																																																						0.441	RP11-53I6.2-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000447730.1			2	4						2	4	---	---	---	---
TCF3	6929	broad.mit.edu	37	19	1611797	1611797	+	Frame_Shift_Del	DEL	T	T	-			TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr19:1611797delT	ENST00000262965.5	-	19	2218	c.1874delA	c.(1873-1875)aagfs	p.K625fs	TCF3_ENST00000344749.5_Frame_Shift_Del_p.K622fs|TCF3_ENST00000453954.2_Frame_Shift_Del_p.K537fs|TCF3_ENST00000395423.3_Frame_Shift_Del_p.K629fs|TCF3_ENST00000588136.1_Frame_Shift_Del_p.K622fs	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCTGACACCTTTTCCTCTTC	0.607			T	"""PBX1, HLF, TFPT"""	pre B-ALL																																	ENST00000262965.5				Dom	yes		19	19p13.3	6929	T	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)			L	"""PBX1, HLF, TFPT"""		pre B-ALL		0				breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16						c.(1873-1875)agfs		transcription factor 3							77.0	61.0	67.0					19																	1611797		2203	4300	6503	SO:0001589	frameshift_variant	6929				B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding	g.chr19:1611797delT	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"""Basic helix-loop-helix proteins"""	11633	protein-coding gene	gene with protein product	"""transcription factor E2-alpha"", ""immunoglobulin transcription factor 1"", ""kappa-E2-binding factor"", ""E2A immunoglobulin enhancer-binding factor E12/E47"", ""VDR interacting repressor"""	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.1874delA	19.37:g.1611797delT	ENSP00000262965:p.Lys625fs					TCF3_ENST00000588136.1_Frame_Shift_Del_p.K622fs|TCF3_ENST00000344749.5_Frame_Shift_Del_p.K622fs|TCF3_ENST00000453954.2_Frame_Shift_Del_p.K537fs|TCF3_ENST00000395423.3_Frame_Shift_Del_p.K629fs	p.K625fs	NM_003200.3	NP_003191.1	P15923	TFE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	19	2218	-		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)	625					Q53R97|Q6PD70|Q9NP00	Frame_Shift_Del	DEL	ENST00000262965.5	37	c.1874delA	CCDS12074.1																																																																																				0.607	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200		21	57						21	57	---	---	---	---
MIR3687-2	103504728	broad.mit.edu	37	21	9825838	9825839	+	RNA	INS	-	-	GCG	rs372061766|rs369177681|rs563875271	byFrequency	TCGA-V1-A9ZG-01A-11D-A41K-08	TCGA-V1-A9ZG-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	463bc174-d782-4e0f-b8ab-e424b330c7f7	05454125-24ef-4c09-b1e9-71cd7a15a98e	g.chr21:9825838_9825839insGCG	ENST00000577708.1	+	0	0				MIR3648_ENST00000581792.1_RNA	NR_037458.1																						cggccgcgactgcggcggcggt	0.842																																						ENST00000581792.1																			0																																																			0							g.chr21:9825838_9825839insGCG																													21.37:g.9825845_9825847dupGCG								NR_037421.1						0	7_8	+									RNA	INS	ENST00000577708.1	37																																																																																						0.842	MIR3687-201	KNOWN	basic	miRNA	miRNA				4	4						4	4	---	---	---	---
