#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
RPRD2	23248	broad.mit.edu	37	1	150445317	150445317	+	Missense_Mutation	SNP	C	C	G			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr1:150445317C>G	ENST00000369068.4	+	11	3897	c.3893C>G	c.(3892-3894)cCt>cGt	p.P1298R	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Missense_Mutation_p.P1272R	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1298	Pro-rich.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CCTCCACCCCCTGTTGACCAC	0.607																																						ENST00000401000.4																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(3814-3816)cCt>cGt		regulation of nuclear pre-mRNA domain containing 2							39.0	42.0	41.0					1																	150445317		1931	4127	6058	SO:0001583	missense	23248						protein binding	g.chr1:150445317C>G	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.3893C>G	1.37:g.150445317C>G	ENSP00000358064:p.Pro1298Arg					RPRD2_ENST00000369068.4_Missense_Mutation_p.P1298R|RPRD2_ENST00000492220.1_3'UTR	p.P1272R			Q5VT52	RPRD2_HUMAN			10	3880	+			1298			Pro-rich.		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	c.3815C>G	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.664996	0.47572	.	.	ENSG00000163125	ENST00000401000;ENST00000369068	T;T	0.51325	0.72;0.71	4.45	4.45	0.53987	.	0.067994	0.64402	D	0.000015	T	0.28732	0.0712	N	0.19112	0.55	0.80722	D	1	B;P	0.36837	0.435;0.571	B;B	0.41332	0.193;0.354	T	0.38866	-0.9641	10	0.87932	D	0	-4.7077	17.329	0.87258	0.0:1.0:0.0:0.0	.	1298;1272	Q5VT52;Q5VT52-3	RPRD2_HUMAN;.	R	1272;1298	ENSP00000383785:P1272R;ENSP00000358064:P1298R	ENSP00000358064:P1298R	P	+	2	0	RPRD2	148711941	0.856000	0.29760	0.975000	0.42487	0.758000	0.43043	3.835000	0.55805	2.300000	0.77407	0.555000	0.69702	CCT		0.607	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		3	9	3	9	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158646058	158646058	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr1:158646058T>C	ENST00000368147.4	-	8	1165	c.985A>G	c.(985-987)Aag>Gag	p.K329E		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	329					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGTGTCAGCTTCTCTGCTTTA	0.498																																						ENST00000368147.4																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(985-987)Aag>Gag		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							205.0	193.0	197.0					1																	158646058		1924	4138	6062	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158646058T>C	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.985A>G	1.37:g.158646058T>C	ENSP00000357129:p.Lys329Glu						p.K329E	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			8	1165	-	all_hematologic(112;0.0378)							Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.985A>G	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	T	18.28	3.588872	0.66105	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.52983	0.64;0.64	5.24	5.24	0.73138	.	0.242396	0.21391	N	0.075308	T	0.28466	0.0704	L	0.52573	1.65	0.37214	D	0.904921	P	0.38048	0.616	B	0.41135	0.348	T	0.10847	-1.0612	10	0.23302	T	0.38	.	9.7896	0.40697	0.0:0.0:0.2764:0.7236	.	329	P02549	SPTA1_HUMAN	E	329	ENSP00000357130:K329E;ENSP00000357129:K329E	ENSP00000357129:K329E	K	-	1	0	SPTA1	156912682	1.000000	0.71417	0.986000	0.45419	0.783000	0.44284	5.725000	0.68507	2.186000	0.69663	0.533000	0.62120	AAG		0.498	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		72	99	72	99	---	---	---	---
OR6K3	391114	broad.mit.edu	37	1	158687669	158687670	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr1:158687669_158687670GG>AT	ENST00000368146.1	-	1	283_284	c.284_285CC>AT	c.(283-285)cCC>cAT	p.P95H	OR6K3_ENST00000368145.1_Missense_Mutation_p.P79H			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					AGAGCATCTTGGGAATGGTGGC	0.45																																						ENST00000368146.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41						c.(283-285)ccC>ccT|c.(283-285)cCc>cAc		olfactory receptor, family 6, subfamily K, member 3																																				SO:0001583	missense	391114				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158687669G>A|g.chr1:158687670G>T	AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"""GPCR / Class A : Olfactory receptors"""	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.284_285delinsAT	1.37:g.158687669_158687670delinsAT	ENSP00000357128:p.Pro95His					OR6K3_ENST00000368145.1_Silent_p.P79P|OR6K3_ENST00000368145.1_Missense_Mutation_p.P79H	p.P95P|p.P95H			Q8NGY3	OR6K3_HUMAN			1	284|283	-	all_hematologic(112;0.0378)		95					Q5VUV0|Q6IFR5	Silent|Missense_Mutation	SNP	ENST00000368146.1	37	c.285C>T|c.284C>A																																																																																					0.450	OR6K3-201	KNOWN	basic	protein_coding	protein_coding				40	74|77	40	74	---	---	---	---
APOB	338	broad.mit.edu	37	2	21233084	21233084	+	Missense_Mutation	SNP	C	C	T	rs200106845		TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr2:21233084C>T	ENST00000233242.1	-	26	6783	c.6656G>A	c.(6655-6657)cGt>cAt	p.R2219H		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2219					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAAATTTACACGGATATGATA	0.259													C|||	1	0.000199681	0.0	0.0	5008	,	,		19021	0.0		0.0	False		,,,				2504	0.001					ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(6655-6657)cGt>cAt		apolipoprotein B	Atorvastatin(DB01076)	C	HIS/ARG	2,4400	4.2+/-10.8	0,2,2199	33.0	35.0	34.0		6656	1.3	0.8	2		34	0,8582		0,0,4291	no	missense	APOB	NM_000384.2	29	0,2,6490	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	2219/4564	21233084	2,12982	2201	4291	6492	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21233084C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.6656G>A	2.37:g.21233084C>T	ENSP00000233242:p.Arg2219His						p.R2219H	NM_000384.2	NP_000375	P04114	APOB_HUMAN			26	6783	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2219					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.6656G>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.439026	0.25900	4.54E-4	0.0	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00882	5.58	5.54	1.34	0.21922	.	1.037320	0.07625	N	0.927594	T	0.00967	0.0032	N	0.19112	0.55	0.09310	N	0.999993	B	0.22541	0.071	B	0.12156	0.007	T	0.49916	-0.8888	10	0.40728	T	0.16	.	11.1755	0.48596	0.0:0.7642:0.0:0.2358	.	2219	P04114	APOB_HUMAN	H	2219	ENSP00000233242:R2219H	ENSP00000233242:R2219H	R	-	2	0	APOB	21086589	0.078000	0.21339	0.750000	0.31169	0.615000	0.37417	0.193000	0.17116	0.006000	0.14734	0.561000	0.74099	CGT		0.259	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			18	41	18	41	---	---	---	---
NCOA1	8648	broad.mit.edu	37	2	24929887	24929887	+	Missense_Mutation	SNP	C	C	G			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr2:24929887C>G	ENST00000406961.1	+	13	2200	c.1548C>G	c.(1546-1548)agC>agG	p.S516R	NCOA1_ENST00000395856.3_Missense_Mutation_p.S516R|NCOA1_ENST00000538539.1_Missense_Mutation_p.S516R|NCOA1_ENST00000288599.5_Missense_Mutation_p.S516R|NCOA1_ENST00000405141.1_Missense_Mutation_p.S516R|NCOA1_ENST00000348332.3_Missense_Mutation_p.S516R|NCOA1_ENST00000407230.1_Missense_Mutation_p.S365R			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	516	Interaction with STAT3.|Ser-rich.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGACATTAAGCTCTCCCGTTG	0.418			T	PAX3	alveolar rhadomyosarcoma																																	ENST00000405141.1				Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	0				breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53						c.(1546-1548)agC>agG		nuclear receptor coactivator 1							92.0	96.0	95.0					2																	24929887		2203	4300	6503	SO:0001583	missense	8648							g.chr2:24929887C>G	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.1548C>G	2.37:g.24929887C>G	ENSP00000385216:p.Ser516Arg					NCOA1_ENST00000538539.1_Missense_Mutation_p.S516R|NCOA1_ENST00000288599.5_Missense_Mutation_p.S516R|NCOA1_ENST00000348332.3_Missense_Mutation_p.S516R|NCOA1_ENST00000406961.1_Missense_Mutation_p.S516R|NCOA1_ENST00000395856.3_Missense_Mutation_p.S516R|NCOA1_ENST00000407230.1_Missense_Mutation_p.S365R	p.S516R			Q15788	NCOA1_HUMAN			14	2259	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		516			Interaction with STAT3.|Ser-rich.		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	ENST00000406961.1	37	c.1548C>G	CCDS1712.1	.	.	.	.	.	.	.	.	.	.	C	9.957	1.221636	0.22457	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.02032	4.61;4.61;4.49;4.61;4.61;4.61;4.61	5.23	1.95	0.26073	.	0.429828	0.28006	N	0.016964	T	0.02455	0.0075	L	0.36672	1.1	0.25094	N	0.990835	P;P;P;B	0.37276	0.589;0.454;0.589;0.421	B;B;B;B	0.36608	0.229;0.115;0.229;0.08	T	0.41179	-0.9523	10	0.72032	D	0.01	.	10.2157	0.43166	0.0:0.7214:0.0:0.2786	.	516;516;516;365	Q15788-3;Q15788;Q15788-2;B5MCN7	.;NCOA1_HUMAN;.;.	R	516;516;365;516;516;516;516	ENSP00000385216:S516R;ENSP00000385097:S516R;ENSP00000385195:S365R;ENSP00000444039:S516R;ENSP00000320940:S516R;ENSP00000288599:S516R;ENSP00000379197:S516R	ENSP00000288599:S516R	S	+	3	2	NCOA1	24783391	1.000000	0.71417	0.990000	0.47175	0.796000	0.44982	1.329000	0.33770	0.715000	0.32103	-0.136000	0.14681	AGC		0.418	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		27	45	27	45	---	---	---	---
C2orf61	285051	broad.mit.edu	37	2	47378575	47378575	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr2:47378575T>G	ENST00000445927.2	-	3	347	c.221A>C	c.(220-222)aAt>aCt	p.N74T	C2orf61_ENST00000294947.2_Missense_Mutation_p.N74T|RP11-761B3.1_ENST00000422269.1_3'UTR	NM_001163561.1	NP_001157033.1	Q8N801	CB061_HUMAN	chromosome 2 open reading frame 61	74								p.0?(2)		endometrium(1)|kidney(1)|lung(2)	4		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GTTTTTAAAATTGTAGGTTGC	0.398																																						ENST00000294947.2																			2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	endometrium(1)|kidney(1)|lung(2)	4						c.(220-222)aAt>aCt		chromosome 2 open reading frame 61							165.0	158.0	160.0					2																	47378575		2203	4300	6503	SO:0001583	missense	285051							g.chr2:47378575T>G	AK097491	CCDS1831.1, CCDS54356.1	2p21	2008-02-05			ENSG00000239605	ENSG00000239605			26850	protein-coding gene	gene with protein product							Standard	NM_173649		Approved	FLJ40172	uc010yog.2	Q8N801	OTTHUMG00000128851	ENST00000445927.2:c.221A>C	2.37:g.47378575T>G	ENSP00000408527:p.Asn74Thr					RP11-761B3.1_ENST00000422269.1_3'UTR|C2orf61_ENST00000445927.2_Missense_Mutation_p.N74T	p.N74T	NM_173649.2	NP_775920.1	Q8N801	CB061_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		3	256	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	74					H7C2Z2	Missense_Mutation	SNP	ENST00000445927.2	37	c.221A>C	CCDS54356.1	.	.	.	.	.	.	.	.	.	.	T	14.57	2.574134	0.45902	.	.	ENSG00000239605	ENST00000445927;ENST00000294947	T;T	0.33438	1.41;1.41	5.12	0.161	0.14977	.	0.224693	0.31323	N	0.007843	T	0.30854	0.0778	M	0.61703	1.905	0.26256	N	0.978646	P	0.36909	0.573	B	0.40901	0.343	T	0.19745	-1.0296	10	0.56958	D	0.05	-6.3207	8.8281	0.35067	0.0:0.3672:0.0:0.6328	.	74	Q8N801	CB061_HUMAN	T	74	ENSP00000408527:N74T;ENSP00000294947:N74T	ENSP00000294947:N74T	N	-	2	0	C2orf61	47232079	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	0.617000	0.24359	0.014000	0.14944	0.383000	0.25322	AAT		0.398	C2orf61-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173649		46	59	46	59	---	---	---	---
IL18RAP	8807	broad.mit.edu	37	2	103063627	103063627	+	Silent	SNP	G	G	A			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr2:103063627G>A	ENST00000264260.2	+	10	1759	c.1170G>A	c.(1168-1170)ctG>ctA	p.L390L	IL18RAP_ENST00000409369.1_Silent_p.L248L	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	390					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						AAATAGTGCTGCTGTACCGGA	0.577																																						ENST00000264260.2																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						c.(1168-1170)ctG>ctA		interleukin 18 receptor accessory protein							150.0	152.0	152.0					2																	103063627		2203	4300	6503	SO:0001819	synonymous_variant	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103063627G>A	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.1170G>A	2.37:g.103063627G>A						IL18RAP_ENST00000409369.1_Silent_p.L248L	p.L390L	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN			10	1759	+			390					B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Silent	SNP	ENST00000264260.2	37	c.1170G>A	CCDS2061.1																																																																																				0.577	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		65	73	65	73	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168107563	168107563	+	Missense_Mutation	SNP	C	C	G			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr2:168107563C>G	ENST00000409195.1	+	9	9750	c.9661C>G	c.(9661-9663)Ctt>Gtt	p.L3221V	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.L2999V|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.L3221V	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3046					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCCTGCAACACTTCGTCGTCA	0.453																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(9661-9663)Ctt>Gtt		xin actin-binding repeat containing 2							69.0	68.0	68.0					2																	168107563		1924	4134	6058	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168107563C>G	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.9661C>G	2.37:g.168107563C>G	ENSP00000386840:p.Leu3221Val					XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.L2999V|XIRP2_ENST00000295237.9_Missense_Mutation_p.L3221V	p.L3221V	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	9750	+			3046					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.9661C>G	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.118128	0.56505	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02863	4.14;4.14;4.13	5.45	5.45	0.79879	.	0.325116	0.30437	N	0.009634	T	0.13457	0.0326	L	0.58669	1.825	0.40016	D	0.97535	D;D;D	0.89917	0.999;1.0;0.997	D;D;D	0.83275	0.991;0.996;0.942	T	0.00330	-1.1812	10	0.48119	T	0.1	-14.3517	18.4306	0.90624	0.0:1.0:0.0:0.0	.	3046;3046;2999	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	V	3221;3221;2999;635	ENSP00000386840:L3221V;ENSP00000295237:L3221V;ENSP00000387255:L2999V	ENSP00000295237:L3221V	L	+	1	0	XIRP2	167815809	0.995000	0.38212	0.978000	0.43139	0.993000	0.82548	3.074000	0.50065	2.729000	0.93468	0.460000	0.39030	CTT		0.453	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		26	30	26	30	---	---	---	---
TTC30A	92104	broad.mit.edu	37	2	178482390	178482390	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr2:178482390G>A	ENST00000355689.5	-	1	1304	c.1040C>T	c.(1039-1041)gCc>gTc	p.A347V	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	347					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			CGTCAAATGGGCATTTTCTGC	0.448																																						ENST00000355689.5																			0				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1039-1041)gCc>gTc		tetratricopeptide repeat domain 30A							116.0	123.0	121.0					2																	178482390		2203	4300	6503	SO:0001583	missense	92104				cell projection organization	cilium	binding	g.chr2:178482390G>A	AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557		"""Tetratricopeptide (TTC) repeat domain containing"""	25853	protein-coding gene	gene with protein product						12477932	Standard	NM_152275		Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.1040C>T	2.37:g.178482390G>A	ENSP00000347915:p.Ala347Val					AC073834.3_ENST00000357045.4_RNA	p.A347V	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)		1	1304	-								A8K8N0|Q8IVP2	Missense_Mutation	SNP	ENST00000355689.5	37	c.1040C>T	CCDS2276.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072863	0.76415	.	.	ENSG00000197557	ENST00000355689	T	0.36340	1.26	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.48223	0.1488	M	0.70275	2.135	0.80722	D	1	P	0.51653	0.947	P	0.46110	0.504	T	0.47142	-0.9140	10	0.48119	T	0.1	.	20.3829	0.98937	0.0:0.0:1.0:0.0	.	347	Q86WT1	TT30A_HUMAN	V	347	ENSP00000347915:A347V	ENSP00000347915:A347V	A	-	2	0	TTC30A	178190636	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.722000	0.84778	2.823000	0.97156	0.644000	0.83932	GCC		0.448	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255728.2	NM_152275		36	50	36	50	---	---	---	---
WDR75	84128	broad.mit.edu	37	2	190315668	190315668	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr2:190315668G>T	ENST00000314761.4	+	3	316	c.256G>T	c.(256-258)Gac>Tac	p.D86Y		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	86						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TAAACTGTGGGACTATATAGA	0.284																																						ENST00000314761.4																			0				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25						c.(256-258)Gac>Tac		WD repeat domain 75							199.0	204.0	202.0					2																	190315668		2203	4299	6502	SO:0001583	missense	84128					nucleolus		g.chr2:190315668G>T	AK091546	CCDS2298.1	2q32.2	2013-01-09			ENSG00000115368	ENSG00000115368		"""WD repeat domain containing"""	25725	protein-coding gene	gene with protein product	"""UTP17, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_032168		Approved	FLJ12519, NET16, UTP17	uc002uql.1	Q8IWA0	OTTHUMG00000132660	ENST00000314761.4:c.256G>T	2.37:g.190315668G>T	ENSP00000314193:p.Asp86Tyr						p.D86Y	NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)		3	316	+			86					Q96J10|Q9H8U8|Q9H9U5|Q9H9V8|Q9UIX2	Missense_Mutation	SNP	ENST00000314761.4	37	c.256G>T	CCDS2298.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.633741	0.87660	.	.	ENSG00000115368	ENST00000314761	T	0.11930	2.73	5.66	5.66	0.87406	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.52058	0.1711	H	0.95294	3.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.66356	-0.5944	10	0.87932	D	0	-22.0563	17.5147	0.87770	0.0:0.0:1.0:0.0	.	86;86	A8K330;Q8IWA0	.;WDR75_HUMAN	Y	86	ENSP00000314193:D86Y	ENSP00000314193:D86Y	D	+	1	0	WDR75	190023913	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.379000	0.90146	2.661000	0.90470	0.655000	0.94253	GAC		0.284	WDR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255913.1	NM_032168		20	57	20	57	---	---	---	---
DCLK3	85443	broad.mit.edu	37	3	36779816	36779816	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr3:36779816G>A	ENST00000416516.2	-	2	825	c.335C>T	c.(334-336)gCc>gTc	p.A112V		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	112						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TTCCAGAGTGGCTTCCCTGGG	0.557																																						ENST00000416516.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(334-336)gCc>gTc		doublecortin-like kinase 3							123.0	125.0	125.0					3																	36779816		1877	4096	5973	SO:0001583	missense	85443					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr3:36779816G>A	AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"""doublecortin and CaM kinase-like 3"""	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.335C>T	3.37:g.36779816G>A	ENSP00000394484:p.Ala112Val						p.A112V	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN			2	825	-			112						Missense_Mutation	SNP	ENST00000416516.2	37	c.335C>T	CCDS43064.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.703191	0.30232	.	.	ENSG00000163673	ENST00000416516	T	0.70516	-0.49	4.7	4.7	0.59300	.	0.000000	0.32671	N	0.005786	T	0.57475	0.2056	L	0.36672	1.1	0.09310	N	1	B	0.34103	0.437	B	0.30029	0.11	T	0.58934	-0.7548	10	0.87932	D	0	.	9.5515	0.39313	0.0:0.1535:0.688:0.1585	.	112	Q9C098	DCLK3_HUMAN	V	112	ENSP00000394484:A112V	ENSP00000394484:A112V	A	-	2	0	DCLK3	36754820	0.015000	0.18098	0.033000	0.17914	0.408000	0.30992	1.685000	0.37659	2.339000	0.79563	0.655000	0.94253	GCC		0.557	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341727.1	XM_047355		24	136	24	136	---	---	---	---
PTPN23	25930	broad.mit.edu	37	3	47437635	47437635	+	Silent	SNP	T	T	C			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr3:47437635T>C	ENST00000265562.4	+	2	164	c.87T>C	c.(85-87)ttT>ttC	p.F29F	PTPN23_ENST00000431726.1_5'UTR	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	29	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTCTGTAGTTTGTCCTGAAGA	0.478																																						ENST00000265562.4																			0				breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23						c.(85-87)ttT>ttC		protein tyrosine phosphatase, non-receptor type 23							127.0	126.0	127.0					3																	47437635		2203	4300	6503	SO:0001819	synonymous_variant	25930				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	g.chr3:47437635T>C	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.87T>C	3.37:g.47437635T>C						PTPN23_ENST00000431726.1_5'UTR	p.F29F	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	2	164	+			29			BRO1.		A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Silent	SNP	ENST00000265562.4	37	c.87T>C	CCDS2754.1																																																																																				0.478	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466		10	83	10	83	---	---	---	---
GLP1R	2740	broad.mit.edu	37	6	39046951	39046951	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr6:39046951A>C	ENST00000373256.4	+	10	1061	c.1018A>C	c.(1018-1020)Atg>Ctg	p.M340L		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	340					activation of adenylate cyclase activity (GO:0007190)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|learning or memory (GO:0007611)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucagon receptor activity (GO:0004967)|transmembrane signaling receptor activity (GO:0004888)			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)|Liraglutide(DB06655)	GGCCAATCTCATGTGCAAGAC	0.542																																						ENST00000373256.4																			0				breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31						c.(1018-1020)Atg>Ctg		glucagon-like peptide 1 receptor	Exenatide(DB01276)|Glucagon recombinant(DB00040)						124.0	122.0	122.0					6																	39046951		2203	4300	6503	SO:0001583	missense	2740				activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled	g.chr6:39046951A>C		CCDS4839.1	6p21	2012-08-10			ENSG00000112164	ENSG00000112164		"""GPCR / Class B : Glucagon receptors"""	4324	protein-coding gene	gene with protein product		138032					Standard	NM_002062		Approved		uc003ooj.4	P43220	OTTHUMG00000014638	ENST00000373256.4:c.1018A>C	6.37:g.39046951A>C	ENSP00000362353:p.Met340Leu						p.M340L	NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN			10	1061	+			340					Q2M229|Q99669	Missense_Mutation	SNP	ENST00000373256.4	37	c.1018A>C	CCDS4839.1	.	.	.	.	.	.	.	.	.	.	A	17.09	3.300946	0.60195	.	.	ENSG00000112164	ENST00000373256	T	0.32515	1.45	5.12	5.12	0.69794	GPCR, family 2-like (1);	0.063539	0.64402	D	0.000003	T	0.19366	0.0465	L	0.56280	1.765	0.41632	D	0.989027	B	0.17038	0.02	B	0.30716	0.119	T	0.06807	-1.0806	10	0.46703	T	0.11	.	11.577	0.50866	0.8508:0.1492:0.0:0.0	.	340	P43220	GLP1R_HUMAN	L	340	ENSP00000362353:M340L	ENSP00000362353:M340L	M	+	1	0	GLP1R	39154929	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.172000	0.77604	1.936000	0.56123	0.379000	0.24179	ATG		0.542	GLP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040443.1			60	28	60	28	---	---	---	---
ZNF318	24149	broad.mit.edu	37	6	43325471	43325471	+	Missense_Mutation	SNP	C	C	T	rs549275559		TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr6:43325471C>T	ENST00000361428.2	-	3	658	c.581G>A	c.(580-582)cGa>cAa	p.R194Q	ZNF318_ENST00000318149.3_Missense_Mutation_p.R194Q	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	194					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTGGGAGCTTCGAGTGAAGAC	0.473													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19952	0.0		0.0	False		,,,				2504	0.0					ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(580-582)cGa>cAa		zinc finger protein 318							106.0	111.0	110.0					6																	43325471		2203	4300	6503	SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43325471C>T	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.581G>A	6.37:g.43325471C>T	ENSP00000354964:p.Arg194Gln					ZNF318_ENST00000318149.3_Missense_Mutation_p.R194Q	p.R194Q	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		3	658	-			194					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.581G>A	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	C	21.8	4.209266	0.79240	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	T;T	0.04119	3.7;3.7	5.09	3.15	0.36227	.	0.569440	0.16218	N	0.224161	T	0.02156	0.0067	N	0.24115	0.695	0.26299	N	0.978003	D	0.56035	0.974	P	0.47891	0.56	T	0.45745	-0.9240	10	0.59425	D	0.04	-1.1407	10.2582	0.43410	0.0:0.8226:0.0:0.1774	.	194	Q5VUA4	ZN318_HUMAN	Q	194	ENSP00000323032:R194Q;ENSP00000354964:R194Q	ENSP00000323032:R194Q	R	-	2	0	ZNF318	43433449	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.301000	0.51842	1.370000	0.46153	0.555000	0.69702	CGA		0.473	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		40	92	40	92	---	---	---	---
GLI3	2737	broad.mit.edu	37	7	42018254	42018254	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr7:42018254A>G	ENST00000395925.3	-	11	1675	c.1591T>C	c.(1591-1593)Tat>Cat	p.Y531H	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	531					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						ACCAACATATACTGGGCTTTG	0.502									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(1591-1593)Tat>Cat		GLI family zinc finger 3							117.0	107.0	110.0					7																	42018254		2203	4300	6503	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42018254A>G		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.1591T>C	7.37:g.42018254A>G	ENSP00000379258:p.Tyr531His					GLI3_ENST00000479210.1_5'UTR	p.Y531H	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			11	1675	-			531					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.1591T>C	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.838329	0.91117	.	.	ENSG00000106571	ENST00000395925	D	0.91180	-2.8	5.84	5.84	0.93424	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.96725	0.8931	H	0.94503	3.545	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97774	1.0228	10	0.87932	D	0	.	16.2141	0.82191	1.0:0.0:0.0:0.0	.	531	P10071	GLI3_HUMAN	H	531	ENSP00000379258:Y531H	ENSP00000379258:Y531H	Y	-	1	0	GLI3	41984779	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.281000	0.95811	2.230000	0.72887	0.528000	0.53228	TAT		0.502	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		11	128	11	128	---	---	---	---
TEX15	56154	broad.mit.edu	37	8	30699598	30699598	+	Silent	SNP	T	T	C			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr8:30699598T>C	ENST00000256246.2	-	1	7010	c.6936A>G	c.(6934-6936)cgA>cgG	p.R2312R		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2312					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CAGTGCTCGGTCGTTTTTTAG	0.343																																						ENST00000256246.2																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(6934-6936)cgA>cgG		testis expressed 15							110.0	105.0	107.0					8																	30699598		2203	4300	6503	SO:0001819	synonymous_variant	56154							g.chr8:30699598T>C	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.6936A>G	8.37:g.30699598T>C							p.R2312R	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	7010	-			2312						Silent	SNP	ENST00000256246.2	37	c.6936A>G	CCDS6080.1																																																																																				0.343	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			28	105	28	105	---	---	---	---
RANBP6	26953	broad.mit.edu	37	9	6015581	6015581	+	Silent	SNP	C	C	A			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr9:6015581C>A	ENST00000259569.5	-	1	37	c.27G>T	c.(25-27)gtG>gtT	p.V9V	RANBP6_ENST00000485372.1_5'UTR	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	9					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		CGGTCGCCGGCACCCCTGCAG	0.577																																						ENST00000259569.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(25-27)gtG>gtT		RAN binding protein 6							38.0	44.0	42.0					9																	6015581		2203	4299	6502	SO:0001819	synonymous_variant	26953				protein transport	cytoplasm|nucleus	binding	g.chr9:6015581C>A	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.27G>T	9.37:g.6015581C>A						RANBP6_ENST00000485372.1_5'UTR	p.V9V	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	1	37	-		Acute lymphoblastic leukemia(23;0.158)	9					Q5T7X4|Q7Z3V2|Q96E78	Silent	SNP	ENST00000259569.5	37	c.27G>T	CCDS6467.1																																																																																				0.577	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		19	34	19	34	---	---	---	---
ABCA1	19	broad.mit.edu	37	9	107564358	107564358	+	Missense_Mutation	SNP	T	T	C	rs543919713		TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr9:107564358T>C	ENST00000374736.3	-	34	5069	c.4675A>G	c.(4675-4677)Aag>Gag	p.K1559E		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1559					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	AGGTGTTTCTTCATTTGTTTG	0.423																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(4675-4677)Aag>Gag		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						163.0	149.0	154.0					9																	107564358		2203	4300	6503	SO:0001583	missense	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107564358T>C	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.4675A>G	9.37:g.107564358T>C	ENSP00000363868:p.Lys1559Glu						p.K1559E	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	34	5069	-			1559					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.4675A>G	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	T	15.54	2.862408	0.51482	.	.	ENSG00000165029	ENST00000374736	D	0.88509	-2.39	5.78	5.78	0.91487	.	0.044292	0.85682	D	0.000000	D	0.85159	0.5633	N	0.24115	0.695	0.80722	D	1	B	0.26120	0.142	B	0.36030	0.216	T	0.81920	-0.0712	10	0.37606	T	0.19	.	16.3979	0.83621	0.0:0.0:0.0:1.0	.	1559	O95477	ABCA1_HUMAN	E	1559	ENSP00000363868:K1559E	ENSP00000363868:K1559E	K	-	1	0	ABCA1	106604179	1.000000	0.71417	0.989000	0.46669	0.990000	0.78478	2.202000	0.42743	2.333000	0.79357	0.533000	0.62120	AAG		0.423	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		4	49	4	49	---	---	---	---
SBF2	81846	broad.mit.edu	37	11	9990086	9990086	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr11:9990086G>T	ENST00000256190.8	-	14	1539	c.1402C>A	c.(1402-1404)Cca>Aca	p.P468T		NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	468					cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TGAGGATTTGGATTCTCCTGT	0.448																																						ENST00000256190.8																			0				breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1402-1404)Cca>Aca		SET binding factor 2							123.0	120.0	121.0					11																	9990086		2201	4294	6495	SO:0001583	missense	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:9990086G>T	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.1402C>A	11.37:g.9990086G>T	ENSP00000256190:p.Pro468Thr						p.P468T	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	14	1539	-			468					Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	c.1402C>A	CCDS31427.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.977304|3.977304	0.74360|0.74360	.|.	.|.	ENSG00000133812|ENSG00000133812	ENST00000256190|ENST00000420722	D|.	0.86297|.	-2.1|.	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	0.270908|.	0.36555|.	N|.	0.002539|.	T|T	0.76385|0.76385	0.3980|0.3980	M|M	0.76170|0.76170	2.325|2.325	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.76071|.	0.987|.	T|T	0.77256|0.77256	-0.2655|-0.2655	10|5	0.27785|.	T|.	0.31|.	.|.	18.2211|18.2211	0.89902|0.89902	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	468|.	Q86WG5|.	MTMRD_HUMAN|.	T|Y	468|74	ENSP00000256190:P468T|.	ENSP00000256190:P468T|.	P|S	-|-	1|2	0|0	SBF2|SBF2	9946662|9946662	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	9.441000|9.441000	0.97557|0.97557	2.275000|2.275000	0.75901|0.75901	0.455000|0.455000	0.32223|0.32223	CCA|TCC		0.448	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		30	52	30	52	---	---	---	---
KCNA1	3736	broad.mit.edu	37	12	5020567	5020567	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr12:5020567A>T	ENST00000382545.3	+	2	1130	c.23A>T	c.(22-24)aAc>aTc	p.N8I	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	8					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	TCTGGGGAGAACGTGGACGAG	0.731																																						ENST00000382545.3																			0				NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(22-24)aAc>aTc		potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						15.0	18.0	17.0					12																	5020567		2176	4255	6431	SO:0001583	missense	3736				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	g.chr12:5020567A>T	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.23A>T	12.37:g.5020567A>T	ENSP00000371985:p.Asn8Ile					KCNA1_ENST00000543874.2_Intron	p.N8I	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN			2	1130	+			8					A6NM83|Q3MIQ9	Missense_Mutation	SNP	ENST00000382545.3	37	c.23A>T	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	A	10.94	1.493049	0.26774	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	D	0.96265	-3.96	3.46	3.46	0.39613	.	0.046947	0.85682	D	0.000000	D	0.93109	0.7806	L	0.44542	1.39	0.53005	D	0.999967	B	0.10296	0.003	B	0.11329	0.006	D	0.90774	0.4674	10	0.48119	T	0.1	.	11.5802	0.50887	1.0:0.0:0.0:0.0	.	8	Q09470	KCNA1_HUMAN	I	8	ENSP00000371985:N8I	ENSP00000228858:N8I	N	+	2	0	KCNA1	4890828	0.185000	0.23213	0.916000	0.36221	0.991000	0.79684	1.487000	0.35540	1.588000	0.49971	0.454000	0.30748	AAC		0.731	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217		8	18	8	18	---	---	---	---
LOC101927905	101927905	broad.mit.edu	37	12	8388294	8388294	+	lincRNA	SNP	C	C	T			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr12:8388294C>T	ENST00000304751.9	+	0	284				FAM86FP_ENST00000427893.2_RNA																							GAGATGATGGCTGTGCTCTCG	0.587																																						ENST00000304751.9																			0																																																			101927905							g.chr12:8388294C>T																													12.37:g.8388294C>T						FAM86FP_ENST00000427893.2_RNA								0	284	+									RNA	SNP	ENST00000304751.9	37																																																																																						0.587	RP11-266K4.9-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000400464.1			8	25	8	25	---	---	---	---
PIP4K2C	79837	broad.mit.edu	37	12	57994722	57994722	+	Silent	SNP	C	C	T			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr12:57994722C>T	ENST00000354947.5	+	8	958	c.942C>T	c.(940-942)agC>agT	p.S314S	PIP4K2C_ENST00000422156.3_Silent_p.S266S|PIP4K2C_ENST00000540759.2_Silent_p.S314S|PIP4K2C_ENST00000550465.1_Silent_p.S296S			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	314	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					GGGACTGCAGCCTGACTGGAC	0.617																																						ENST00000354947.5																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(940-942)agC>agT		phosphatidylinositol-5-phosphate 4-kinase, type II, gamma							118.0	122.0	121.0					12																	57994722		2203	4300	6503	SO:0001819	synonymous_variant	79837					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding	g.chr12:57994722C>T	AK125526	CCDS8946.1, CCDS53808.1, CCDS55839.1	12q13.3	2014-09-04	2007-08-14	2007-08-14	ENSG00000166908	ENSG00000166908			23786	protein-coding gene	gene with protein product			"""phosphatidylinositol-4-phosphate 5-kinase, type II, gamma"""	PIP5K2C		9367159	Standard	NM_024779		Approved	FLJ22055	uc001sot.3	Q8TBX8	OTTHUMG00000170144	ENST00000354947.5:c.942C>T	12.37:g.57994722C>T						PIP4K2C_ENST00000540759.2_Silent_p.S314S|PIP4K2C_ENST00000422156.3_Silent_p.S266S|PIP4K2C_ENST00000550465.1_Silent_p.S296S	p.S314S			Q8TBX8	PI42C_HUMAN			8	958	+	Melanoma(17;0.122)		314			PIPK.		B2RDL3|B4DM11|B4DY44|Q9H6N2	Silent	SNP	ENST00000354947.5	37	c.942C>T	CCDS8946.1	.	.	.	.	.	.	.	.	.	.	C	6.049	0.377438	0.11466	.	.	ENSG00000166908	ENST00000548264	.	.	.	4.38	0.388	0.16264	.	.	.	.	.	T	0.43722	0.1260	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	T	0.24404	-1.0161	4	.	.	.	-0.1693	3.041	0.06138	0.1883:0.4229:0.0:0.3888	.	.	.	.	V	122	.	.	A	+	2	0	PIP4K2C	56280989	0.000000	0.05858	0.979000	0.43373	0.816000	0.46133	-0.469000	0.06648	0.193000	0.20303	-0.439000	0.05793	GCC		0.617	PIP4K2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407644.1	NM_024779		29	52	29	52	---	---	---	---
METAP2	10988	broad.mit.edu	37	12	95868032	95868032	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr12:95868032G>A	ENST00000323666.5	+	1	306	c.77G>A	c.(76-78)gGa>gAa	p.G26E	METAP2_ENST00000551840.1_Missense_Mutation_p.G26E|METAP2_ENST00000550777.1_Missense_Mutation_p.G26E|METAP2_ENST00000546753.1_Missense_Mutation_p.G26E|METAP2_ENST00000261220.9_Missense_Mutation_p.G26E	NM_006838.3	NP_006829.1			methionyl aminopeptidase 2											endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13						AGGGAAGAAGGAGCTGCCTCT	0.557																																						ENST00000323666.5																			0				endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13						c.(76-78)gGa>gAa		methionyl aminopeptidase 2	L-Methionine(DB00134)						61.0	74.0	70.0					12																	95868032		2203	4300	6503	SO:0001583	missense	10988				N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chr12:95868032G>A	U13261	CCDS9052.1	12q22	2014-09-04			ENSG00000111142		3.4.11.18		16672	protein-coding gene	gene with protein product	"""Peptidase M"""	601870				7644482, 8858118	Standard	NM_006838		Approved	MNPEP, p67, MAP2	uc001tec.3	P50579	OTTHUMG00000170280	ENST00000323666.5:c.77G>A	12.37:g.95868032G>A	ENSP00000325312:p.Gly26Glu					METAP2_ENST00000261220.9_Missense_Mutation_p.G26E|METAP2_ENST00000546753.1_Missense_Mutation_p.G26E|METAP2_ENST00000551840.1_Missense_Mutation_p.G26E|METAP2_ENST00000550777.1_Missense_Mutation_p.G26E	p.G26E	NM_006838.3	NP_006829.1	P50579	AMPM2_HUMAN			1	306	+			26						Missense_Mutation	SNP	ENST00000323666.5	37	c.77G>A	CCDS9052.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.827880	0.50845	.	.	ENSG00000111142	ENST00000323666;ENST00000546753;ENST00000261220;ENST00000549502;ENST00000553151;ENST00000550777;ENST00000551840	.	.	.	5.06	1.99	0.26369	.	0.393532	0.25109	N	0.033069	T	0.28200	0.0696	N	0.08118	0	0.27686	N	0.946278	B;P;P;D;P	0.89917	0.028;0.722;0.846;1.0;0.761	B;B;B;D;B	0.87578	0.021;0.052;0.446;0.998;0.26	T	0.20940	-1.0260	9	0.07990	T	0.79	-10.4836	5.2	0.15258	0.188:0.1688:0.6432:0.0	.	26;26;26;26;26	B4DUX5;F8VRR3;G3XA91;F8VQZ7;P50579	.;.;.;.;AMPM2_HUMAN	E	26	.	ENSP00000261220:G26E	G	+	2	0	METAP2	94392163	1.000000	0.71417	0.998000	0.56505	0.548000	0.35241	0.735000	0.26115	0.631000	0.30412	0.462000	0.41574	GGA		0.557	METAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408296.1	NM_006838		15	25	15	25	---	---	---	---
MIPOL1	145282	broad.mit.edu	37	14	37736347	37736347	+	Missense_Mutation	SNP	C	C	G	rs375523919		TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr14:37736347C>G	ENST00000327441.7	+	5	690	c.224C>G	c.(223-225)tCt>tGt	p.S75C	MIPOL1_ENST00000539062.2_Missense_Mutation_p.S44C|MIPOL1_ENST00000536774.1_Intron|MIPOL1_ENST00000545536.1_Missense_Mutation_p.S44C|MIPOL1_ENST00000539174.2_3'UTR|MIPOL1_ENST00000396294.2_Missense_Mutation_p.S75C|MIPOL1_ENST00000556451.1_Missense_Mutation_p.S44C|MIPOL1_ENST00000537471.1_Missense_Mutation_p.S75C	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	75						nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		GATGATGAGTCTGTTTACTGC	0.423																																						ENST00000327441.7																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23						c.(223-225)tCt>tGt		mirror-image polydactyly 1							80.0	75.0	77.0					14																	37736347		2203	4300	6503	SO:0001583	missense	145282							g.chr14:37736347C>G	AY059470	CCDS9664.1	14q13.3	2010-05-25			ENSG00000151338	ENSG00000151338			21460	protein-coding gene	gene with protein product		606850				11954550, 19667180	Standard	NM_001195296		Approved		uc001wuc.3	Q8TD10	OTTHUMG00000140252	ENST00000327441.7:c.224C>G	14.37:g.37736347C>G	ENSP00000333539:p.Ser75Cys					MIPOL1_ENST00000545536.1_Missense_Mutation_p.S44C|MIPOL1_ENST00000537471.1_Missense_Mutation_p.S75C|MIPOL1_ENST00000536774.1_Intron|MIPOL1_ENST00000539174.2_3'UTR|MIPOL1_ENST00000396294.2_Missense_Mutation_p.S75C|MIPOL1_ENST00000539062.2_Missense_Mutation_p.S44C|MIPOL1_ENST00000556451.1_Missense_Mutation_p.S44C	p.S75C	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)	5	690	+	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		75					D3DSA4|Q7Z3J0|Q8IV14	Missense_Mutation	SNP	ENST00000327441.7	37	c.224C>G	CCDS9664.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.476964	0.26511	.	.	ENSG00000151338	ENST00000556615;ENST00000327441;ENST00000539062;ENST00000556451;ENST00000556753;ENST00000396294;ENST00000537471;ENST00000545536	T;T;T;T;T;T	0.47869	0.86;0.86;0.83;0.86;0.86;0.83	5.19	1.25	0.21368	.	1.280610	0.05234	N	0.510974	T	0.36580	0.0972	L	0.29908	0.895	0.09310	N	1	P;P	0.45827	0.785;0.867	B;B	0.41946	0.371;0.35	T	0.26121	-1.0112	10	0.72032	D	0.01	1.2426	4.2501	0.10691	0.1579:0.5836:0.0:0.2585	.	75;44	Q8TD10;Q49AL5	MIPO1_HUMAN;.	C	75;75;44;44;75;75;75;44	ENSP00000333539:S75C;ENSP00000438319:S44C;ENSP00000450479:S44C;ENSP00000379589:S75C;ENSP00000444254:S75C;ENSP00000442529:S44C	ENSP00000333539:S75C	S	+	2	0	MIPOL1	36806098	0.009000	0.17119	0.000000	0.03702	0.001000	0.01503	0.635000	0.24629	0.051000	0.15978	-0.150000	0.13652	TCT		0.423	MIPOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276734.1	NM_138731		14	16	14	16	---	---	---	---
FOXA1	3169	broad.mit.edu	37	14	38061313	38061313	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr14:38061313C>T	ENST00000250448.2	-	2	737	c.676G>A	c.(676-678)Gac>Aac	p.D226N	FOXA1_ENST00000540786.1_Missense_Mutation_p.D193N|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	226					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.D226N(2)|p.D226Y(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		ACGAAGCAGTCATTGAAGGAC	0.607																																						ENST00000250448.2																			3	Substitution - Missense(3)	p.D226N(2)|p.D226Y(1)	prostate(3)	breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(676-678)Gac>Aac		forkhead box A1							49.0	48.0	49.0					14																	38061313		2203	4300	6503	SO:0001583	missense	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061313C>T	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.676G>A	14.37:g.38061313C>T	ENSP00000250448:p.Asp226Asn					FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.D193N	p.D226N	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	737	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		226					B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	c.676G>A	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	C	31	5.067571	0.93898	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	D;D	0.95622	-3.76;-3.76	4.0	4.0	0.46444	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	D	0.000000	D	0.97151	0.9069	M	0.81179	2.53	0.80722	D	1	D	0.57257	0.979	P	0.61658	0.892	D	0.97871	1.0286	10	0.87932	D	0	.	15.0053	0.71507	0.0:1.0:0.0:0.0	.	226	P55317	FOXA1_HUMAN	N	226;193	ENSP00000250448:D226N;ENSP00000440178:D193N	ENSP00000250448:D226N	D	-	1	0	FOXA1	37131064	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.547000	0.82146	2.057000	0.61298	0.400000	0.26472	GAC		0.607	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			16	18	16	18	---	---	---	---
TSC2	7249	broad.mit.edu	37	16	2136230	2136230	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr16:2136230G>C	ENST00000219476.3	+	37	5329	c.4699G>C	c.(4699-4701)Ggc>Cgc	p.G1567R	TSC2_ENST00000382538.6_Missense_Mutation_p.G1452R|TSC2_ENST00000401874.2_Missense_Mutation_p.G1500R|TSC2_ENST00000353929.4_Missense_Mutation_p.G1524R|TSC2_ENST00000568454.1_Missense_Mutation_p.G1511R|TSC2_ENST00000439673.2_Missense_Mutation_p.G1464R|TSC2_ENST00000350773.4_Missense_Mutation_p.G1544R	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1567	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CAATGAGCATGGCTCCTACAG	0.667			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"""D, Mis, N, F, S"""	tuberous sclerosis 2 gene			"""E, O"""		"""hamartoma, renal cell"""			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56						c.(4699-4701)Ggc>Cgc		tuberous sclerosis 2							82.0	71.0	75.0					16																	2136230		2198	4298	6496	SO:0001583	missense	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2136230G>C	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.4699G>C	16.37:g.2136230G>C	ENSP00000219476:p.Gly1567Arg					TSC2_ENST00000439673.2_Missense_Mutation_p.G1464R|TSC2_ENST00000382538.6_Missense_Mutation_p.G1452R|TSC2_ENST00000401874.2_Missense_Mutation_p.G1500R|TSC2_ENST00000353929.4_Missense_Mutation_p.G1524R|TSC2_ENST00000350773.4_Missense_Mutation_p.G1544R|TSC2_ENST00000568454.1_Missense_Mutation_p.G1511R	p.G1567R	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			37	5329	+		Hepatocellular(780;0.0202)	1567			Rap-GAP.		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.4699G>C	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.527722	0.85706	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.95588	-3.75;-3.75;-3.75;-3.75;-3.75	4.47	4.47	0.54385	Rap/ran-GAP (2);	0.000000	0.85682	D	0.000000	D	0.98150	0.9389	M	0.91872	3.25	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.99437	1.0937	10	0.87932	D	0	-36.8958	17.3319	0.87267	0.0:0.0:1.0:0.0	.	1452;1464;1544;342;1523;1500;1567	B4DIL8;P49815-6;P49815-4;B3KSR9;P49815-3;P49815-5;P49815	.;.;.;.;.;.;TSC2_HUMAN	R	1567;1501;1524;1464;1452;1544	ENSP00000219476:G1567R;ENSP00000248099:G1524R;ENSP00000399232:G1464R;ENSP00000371978:G1452R;ENSP00000344383:G1544R	ENSP00000219476:G1567R	G	+	1	0	TSC2	2076231	1.000000	0.71417	0.999000	0.59377	0.936000	0.57629	7.736000	0.84948	2.319000	0.78375	0.561000	0.74099	GGC		0.667	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		16	17	16	17	---	---	---	---
CETP	1071	broad.mit.edu	37	16	57003576	57003576	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr16:57003576A>T	ENST00000566128.1	+	4	494	c.227A>T	c.(226-228)cAg>cTg	p.Q76L	CETP_ENST00000200676.3_Missense_Mutation_p.Q141L|CETP_ENST00000379780.2_Missense_Mutation_p.Q141L|CETP_ENST00000569082.1_3'UTR					cholesteryl ester transfer protein, plasma											NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						ATTGACCTCCAGATCAACACA	0.577																																						ENST00000200676.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						c.(421-423)cAg>cTg		cholesteryl ester transfer protein, plasma							130.0	107.0	115.0					16																	57003576		2198	4300	6498	SO:0001583	missense	1071				cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding	g.chr16:57003576A>T	M30185	CCDS10772.1, CCDS67032.1	16q13	2012-10-02			ENSG00000087237	ENSG00000087237		"""BPI fold containing"""	1869	protein-coding gene	gene with protein product	"""BPI fold containing family F"""	118470				3600759, 2334701	Standard	NM_000078		Approved	BPIFF	uc002eki.2	P11597	OTTHUMG00000133279	ENST00000566128.1:c.227A>T	16.37:g.57003576A>T	ENSP00000456276:p.Gln76Leu					CETP_ENST00000569082.1_3'UTR|CETP_ENST00000379780.2_Missense_Mutation_p.Q141L|CETP_ENST00000566128.1_Missense_Mutation_p.Q76L	p.Q141L	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN			4	552	+			141						Missense_Mutation	SNP	ENST00000566128.1	37	c.422A>T		.	.	.	.	.	.	.	.	.	.	A	10.71	1.426674	0.25726	.	.	ENSG00000087237	ENST00000200676;ENST00000379780	T;T	0.05925	3.37;3.37	4.07	4.07	0.47477	Lipid-binding serum glycoprotein, N-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.418236	0.24240	U	0.040276	T	0.05731	0.0150	L	0.29908	0.895	0.27333	N	0.956712	B;B	0.33238	0.403;0.374	B;B	0.34242	0.075;0.178	T	0.29150	-1.0021	10	0.34782	T	0.22	-7.7388	10.4205	0.44348	1.0:0.0:0.0:0.0	.	141;141	P11597-2;P11597	.;CETP_HUMAN	L	141	ENSP00000200676:Q141L;ENSP00000369106:Q141L	ENSP00000200676:Q141L	Q	+	2	0	CETP	55561077	1.000000	0.71417	0.461000	0.27105	0.437000	0.31866	3.943000	0.56621	1.481000	0.48307	0.533000	0.62120	CAG		0.577	CETP-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000432305.1	NM_000078		17	42	17	42	---	---	---	---
TOP3A	7156	broad.mit.edu	37	17	18181563	18181563	+	Missense_Mutation	SNP	T	T	A			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr17:18181563T>A	ENST00000321105.5	-	18	2467	c.2253A>T	c.(2251-2253)agA>agT	p.R751S	TOP3A_ENST00000542570.1_Missense_Mutation_p.R656S|TOP3A_ENST00000540524.1_Missense_Mutation_p.R281S	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	751					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						CCCCTGAAAATCTCAGGTCCA	0.622																																						ENST00000321105.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						c.(2251-2253)agA>agT		topoisomerase (DNA) III alpha							33.0	39.0	37.0					17																	18181563		2202	4299	6501	SO:0001583	missense	7156				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	g.chr17:18181563T>A	U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 7"""	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.2253A>T	17.37:g.18181563T>A	ENSP00000321636:p.Arg751Ser					TOP3A_ENST00000540524.1_Missense_Mutation_p.R281S|TOP3A_ENST00000542570.1_Missense_Mutation_p.R656S	p.R751S	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN			18	2467	-			751					A8KA61|B4DK80|D3DXC7|Q13473	Missense_Mutation	SNP	ENST00000321105.5	37	c.2253A>T	CCDS11194.1	.	.	.	.	.	.	.	.	.	.	T	9.424	1.083802	0.20309	.	.	ENSG00000177302	ENST00000321105;ENST00000540524;ENST00000542570	T;T;T	0.11277	3.16;2.79;3.16	5.72	-0.366	0.12545	.	0.091183	0.64402	D	0.000001	T	0.07503	0.0189	L	0.39898	1.24	0.34285	D	0.682544	B;B	0.24092	0.097;0.042	B;B	0.26094	0.066;0.028	T	0.37384	-0.9708	10	0.17369	T	0.5	-15.3437	7.2946	0.26385	0.0:0.2725:0.1232:0.6043	.	656;751	B4DK80;Q13472	.;TOP3A_HUMAN	S	751;281;656	ENSP00000321636:R751S;ENSP00000446425:R281S;ENSP00000442336:R656S	ENSP00000321636:R751S	R	-	3	2	TOP3A	18122288	0.402000	0.25311	0.144000	0.22314	0.330000	0.28571	-0.009000	0.12765	-0.306000	0.08818	0.448000	0.29417	AGA		0.622	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2			21	30	21	30	---	---	---	---
ABCA7	10347	broad.mit.edu	37	19	1050920	1050920	+	Splice_Site	SNP	G	G	C			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr19:1050920G>C	ENST00000263094.6	+	19	2784	c.2553G>C	c.(2551-2553)ctG>ctC	p.L851L	ABCA7_ENST00000433129.1_Splice_Site_p.L851L|ABCA7_ENST00000435683.2_Splice_Site_p.L713L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	851	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		CTATCCACAGGTCCATCTTGA	0.527																																						ENST00000263094.6																			0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(2551-2553)ctG>ctC		ATP-binding cassette, sub-family A (ABC1), member 7							70.0	72.0	71.0					19																	1050920		2200	4286	6486	SO:0001630	splice_region_variant	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1050920G>C	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.2553-1G>C	19.37:g.1050920G>C						ABCA7_ENST00000433129.1_Splice_Site_p.L851L|ABCA7_ENST00000435683.2_Splice_Site_p.L713L	p.L851L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_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	2784	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	851			ABC transporter 1.		Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Splice_Site	SNP	ENST00000263094.6	37	c.2553G>C	CCDS12055.1																																																																																				0.527	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112	Silent	9	72	9	72	---	---	---	---
NCAN	1463	broad.mit.edu	37	19	19335210	19335210	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr19:19335210A>G	ENST00000252575.6	+	5	845	c.746A>G	c.(745-747)tAc>tGc	p.Y249C	NCAN_ENST00000538881.1_5'Flank	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	249	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	CAGGAACTCTACGATGTGTAT	0.587																																						ENST00000252575.6																			0				breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(745-747)tAc>tGc		neurocan							107.0	104.0	105.0					19																	19335210		2203	4300	6503	SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19335210A>G	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.746A>G	19.37:g.19335210A>G	ENSP00000252575:p.Tyr249Cys						p.Y249C	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		5	845	+						Link 1.		Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.746A>G	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	A	19.74	3.883638	0.72410	.	.	ENSG00000130287	ENST00000539499;ENST00000252575	T	0.14893	2.47	4.83	4.83	0.62350	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.000000	0.30791	N	0.008867	T	0.53674	0.1811	H	0.96489	3.83	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.68330	-0.5437	10	0.87932	D	0	.	12.3637	0.55217	1.0:0.0:0.0:0.0	.	249	O14594	NCAN_HUMAN	C	263;249	ENSP00000252575:Y249C	ENSP00000252575:Y249C	Y	+	2	0	NCAN	19196210	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.389000	0.59639	1.817000	0.53016	0.459000	0.35465	TAC		0.587	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		21	25	21	25	---	---	---	---
ZNF146	7705	broad.mit.edu	37	19	36727583	36727583	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr19:36727583T>C	ENST00000443387.2	+	4	1233	c.241T>C	c.(241-243)Ttt>Ctt	p.F81L	ZNF565_ENST00000355114.5_Intron|ZNF146_ENST00000456324.1_Missense_Mutation_p.F81L	NM_007145.2	NP_009076.2	Q15072	OZF_HUMAN	zinc finger protein 146	81					regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					TGGAAAATCATTTAGCCAGAA	0.398																																						ENST00000456324.1																			0				kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(241-243)Ttt>Ctt		zinc finger protein 146							82.0	87.0	85.0					19																	36727583		2203	4300	6503	SO:0001583	missense	7705				regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding	g.chr19:36727583T>C	X70394	CCDS12492.1	19q13.1	2013-01-08				ENSG00000167635		"""Zinc fingers, C2H2-type"""	12931	protein-coding gene	gene with protein product		601505				10449921, 8641144	Standard	NM_001099639		Approved	OZF	uc010eeu.3	Q15072		ENST00000443387.2:c.241T>C	19.37:g.36727583T>C	ENSP00000392095:p.Phe81Leu					ZNF565_ENST00000355114.5_Intron|ZNF146_ENST00000443387.2_Missense_Mutation_p.F81L	p.F81L	NM_001099638.1|NM_001099639.1	NP_001093108.1|NP_001093109.1	Q15072	OZF_HUMAN			3	1690	+	Esophageal squamous(110;0.162)		81					Q2TB94	Missense_Mutation	SNP	ENST00000443387.2	37	c.241T>C	CCDS12492.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.720742	0.89205	.	.	ENSG00000167635	ENST00000443387;ENST00000456324	T;T	0.41065	1.01;1.01	4.46	4.46	0.54185	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41294	D	0.000915	T	0.62073	0.2398	M	0.85197	2.74	0.42584	D	0.993229	D	0.53462	0.96	P	0.56612	0.802	T	0.70655	-0.4812	10	0.87932	D	0	-13.605	13.7155	0.62693	0.0:0.0:0.0:1.0	.	81	Q15072	OZF_HUMAN	L	81	ENSP00000392095:F81L;ENSP00000400391:F81L	ENSP00000392095:F81L	F	+	1	0	ZNF146	41419423	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	5.594000	0.67557	2.237000	0.73441	0.529000	0.55759	TTT		0.398	ZNF146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451706.1	NM_007145		9	85	9	85	---	---	---	---
SCAF1	58506	broad.mit.edu	37	19	50156102	50156102	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr19:50156102C>T	ENST00000360565.3	+	7	2580	c.2456C>T	c.(2455-2457)tCt>tTt	p.S819F		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	819	Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GGCTCAGGCTCTTCATCCTCG	0.662																																						ENST00000360565.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20						c.(2455-2457)tCt>tTt		SR-related CTD-associated factor 1							61.0	73.0	69.0					19																	50156102		2203	4300	6503	SO:0001583	missense	58506				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:50156102C>T	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.2456C>T	19.37:g.50156102C>T	ENSP00000353769:p.Ser819Phe						p.S819F	NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)	7	2580	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	819			Ser-rich.		Q7Z5V7|Q8WVA1|Q9NR59	Missense_Mutation	SNP	ENST00000360565.3	37	c.2456C>T	CCDS33074.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.620695	0.28889	.	.	ENSG00000126461	ENST00000360565	T	0.34472	1.36	3.11	3.11	0.35812	.	.	.	.	.	T	0.42787	0.1218	L	0.27053	0.805	0.28906	N	0.892981	D	0.64830	0.994	D	0.74348	0.983	T	0.16778	-1.0391	8	.	.	.	-15.7573	9.958	0.41680	0.0:1.0:0.0:0.0	.	819	Q9H7N4	SFR19_HUMAN	F	819	ENSP00000353769:S819F	.	S	+	2	0	SCAF1	54847914	.	.	0.888000	0.34837	0.744000	0.42396	.	.	2.046000	0.60703	0.561000	0.74099	TCT		0.662	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		9	8	9	8	---	---	---	---
KLK4	9622	broad.mit.edu	37	19	51412612	51412612	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr19:51412612G>C	ENST00000324041.1	-	2	119	c.120C>G	c.(118-120)caC>caG	p.H40Q	KLK4_ENST00000597441.1_5'Flank|KLK4_ENST00000431178.2_5'Flank	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	40	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amelogenesis (GO:0097186)|extracellular matrix disassembly (GO:0022617)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		AGGGCTGCGAGTGCGGGCTGC	0.632																																						ENST00000324041.1																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19						c.(118-120)caC>caG		kallikrein-related peptidase 4							137.0	151.0	147.0					19																	51412612		2203	4300	6503	SO:0001583	missense	9622				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr19:51412612G>C	AF113141	CCDS12809.1	19q13.41	2014-09-04	2006-10-27		ENSG00000167749	ENSG00000167749		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6365	protein-coding gene	gene with protein product		603767	"""kallikrein 4 (prostase, enamel matrix, prostate)"""	PRSS17		10077646, 10438493, 16800724, 10863090, 9465170	Standard	XM_005259441		Approved	EMSP, EMSP1, PSTS, KLK-L1	uc002pua.1	Q9Y5K2	OTTHUMG00000182964	ENST00000324041.1:c.120C>G	19.37:g.51412612G>C	ENSP00000326159:p.His40Gln						p.H40Q	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)	2	119	-		all_neural(266;0.026)	40			Peptidase S1.		Q4VB16|Q96RU5|Q9GZL6|Q9UBJ6	Missense_Mutation	SNP	ENST00000324041.1	37	c.120C>G	CCDS12809.1	.	.	.	.	.	.	.	.	.	.	g	15.80	2.941165	0.53079	.	.	ENSG00000167749	ENST00000324041	D	0.93019	-3.15	3.96	1.62	0.23740	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.378221	0.19549	N	0.111616	D	0.89670	0.6782	M	0.64404	1.975	0.24603	N	0.993762	B	0.21147	0.052	B	0.12837	0.008	D	0.83708	0.0186	10	0.87932	D	0	.	6.4136	0.21704	0.106:0.0:0.7132:0.1807	.	40	Q9Y5K2	KLK4_HUMAN	Q	40	ENSP00000326159:H40Q	ENSP00000326159:H40Q	H	-	3	2	KLK4	56104424	0.993000	0.37304	0.752000	0.31206	0.641000	0.38312	1.209000	0.32357	1.013000	0.39391	0.561000	0.74099	CAC		0.632	KLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464449.1	NM_004917		19	153	19	153	---	---	---	---
MAGEC1	9947	broad.mit.edu	37	X	140996226	140996226	+	Silent	SNP	C	C	A			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chrX:140996226C>A	ENST00000285879.4	+	4	3322	c.3036C>A	c.(3034-3036)acC>acA	p.T1012T	MAGEC1_ENST00000406005.2_Silent_p.T79T	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1012	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TAAAGGGCACCTATGCCTCTG	0.547										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(3034-3036)acC>acA		melanoma antigen family C, 1							87.0	79.0	82.0					X																	140996226		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140996226C>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.3036C>A	X.37:g.140996226C>A		HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Silent_p.T79T	p.T1012T	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	3322	+	Acute lymphoblastic leukemia(192;6.56e-05)		1012			MAGE.		A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.3036C>A	CCDS35417.1																																																																																				0.547	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		50	7	50	7	---	---	---	---
APC	324	broad.mit.edu	37	5	112175225	112175231	+	Frame_Shift_Del	DEL	GGAACTA	GGAACTA	-	rs587779791		TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr5:112175225_112175231delGGAACTA	ENST00000457016.1	+	16	4314_4320	c.3934_3940delGGAACTA	c.(3934-3942)ggaactaggfs	p.GTR1312fs	APC_ENST00000508376.2_Frame_Shift_Del_p.GTR1312fs|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Frame_Shift_Del_p.GTR1312fs			P25054	APC_HUMAN	adenomatous polyposis coli	1312	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.		G -> E (in gastric cancer).		anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.G1312*(25)|p.G1312fs*9(2)|p.G1312E(1)|p.T1313fs*8(1)|p.?(1)|p.T1313A(1)|p.K1192fs*3(1)|p.G1312R(1)|p.G1312fs*4(1)|p.T1313fs*2(1)|p.G1312fs*1(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGAAAAGATTGGAACTAGGTCAGCTGA	0.43		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"""D, Mis, N, F, S"""	adenomatous polyposis of the colon gene			"""E, M, O"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""		36	Substitution - Nonsense(25)|Deletion - Frameshift(6)|Substitution - Missense(3)|Unknown(1)|Insertion - Frameshift(1)	p.G1312*(25)|p.G1312fs*9(2)|p.G1312E(1)|p.T1313fs*8(1)|p.?(1)|p.T1313A(1)|p.K1192fs*3(1)|p.G1312R(1)|p.G1312fs*4(1)|p.T1313fs*2(1)|p.G1312fs*1(1)	large_intestine(32)|stomach(1)|lung(1)|soft_tissue(1)|skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(3934-3942)ggaactaggfs		adenomatous polyposis coli																																				SO:0001589	frameshift_variant	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112175225_112175231delGGAACTA	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.3934_3940delGGAACTA	5.37:g.112175225_112175231delGGAACTA	ENSP00000413133:p.Gly1312fs	TSP Lung(16;0.13)				CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Frame_Shift_Del_p.GTR1312fs|APC_ENST00000508376.2_Frame_Shift_Del_p.GTR1312fs	p.GTR1312fs			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	4314_4320	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	1312		G -> E (in gastric cancer).	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Del	DEL	ENST00000457016.1	37	c.3934_3940delGGAACTA	CCDS4107.1																																																																																				0.430	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		14	9	14	9	---	---	---	---
SMC5	23137	broad.mit.edu	37	9	72933829	72933830	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr9:72933829_72933830delAA	ENST00000361138.5	+	15	2158_2159	c.2100_2101delAA	c.(2098-2103)agaaaafs	p.K701fs		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	701					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						TTCTTGAGAGAAAAACCAAGAA	0.401																																						ENST00000361138.5																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						c.(2098-2103)agaaaafs		structural maintenance of chromosomes 5																																				SO:0001589	frameshift_variant	23137				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr9:72933829_72933830delAA	AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"""Structural maintenance of chromosomes proteins"""	20465	protein-coding gene	gene with protein product		609386	"""SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"""	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.2100_2101delAA	9.37:g.72933831_72933832delAA	ENSP00000354957:p.Lys701fs						p.K701fs	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN			15	2158_2159	+			701					A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Frame_Shift_Del	DEL	ENST00000361138.5	37	c.2100_2101delAA	CCDS6632.1																																																																																				0.401	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052603.1	NM_015110		26	35	26	35	---	---	---	---
