chromosome	start_position	ID	REF	ALT	QUAL	SVTYPE	GT	end_position	gene_name	in_exon	Entry	Status	Protein.names	Gene.names	Annotation	Tissue.specificity	Gene.ontology..biological.process.	Involvement.in.disease	Cross.reference..Orphanet.	PubMed.ID
1	955090	2	N	<DEL>	0.37	DEL	0/0	955466	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
1	11849214	18	N	<DEL>	66.87	DEL	0/1	11849466	MTHFR	TRUE	P42898	reviewed	Methylenetetrahydrofolate reductase (EC 1.5.1.20)	MTHFR	5 out of 5	NA	blood circulation [GO:0008015]; cellular amino acid metabolic process [GO:0006520]; folic acid metabolic process [GO:0046655]; heterochromatin maintenance [GO:0070829]; homocysteine metabolic process [GO:0050667]; methionine metabolic process [GO:0006555]; regulation of histone methylation [GO:0031060]; response to drug [GO:0042493]; response to folic acid [GO:0051593]; response to hypoxia [GO:0001666]; response to interleukin-1 [GO:0070555]; response to vitamin B2 [GO:0033274]; S-adenosylmethionine metabolic process [GO:0046500]; tetrahydrofolate interconversion [GO:0035999]	DISEASE: Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]: Autosomal recessive disorder with a wide range of features including homocysteinuria, homocysteinemia [MIM:603174], developmental delay, severe mental retardation, perinatal death, psychiatric disturbances, and later-onset neurodegenerative disorders. {ECO:0000269|PubMed:10679944, ECO:0000269|PubMed:20236116, ECO:0000269|PubMed:25736335, ECO:0000269|PubMed:7726158, ECO:0000269|PubMed:8940272, ECO:0000269|PubMed:9781030}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Ischemic stroke (ISCHSTR) [MIM:601367]: A stroke is an acute neurologic event leading to death of neural tissue of the brain and resulting in loss of motor, sensory and/or cognitive function. Ischemic strokes, resulting from vascular occlusion, is considered to be a highly complex disease consisting of a group of heterogeneous disorders with multiple genetic and environmental risk factors. {ECO:0000269|PubMed:15534175}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.; DISEASE: Neural tube defects, folate-sensitive (NTDFS) [MIM:601634]: The most common NTDs are open spina bifida (myelomeningocele) and anencephaly. {ECO:0000269|PubMed:10323741, ECO:0000269|PubMed:7564788, ECO:0000269|PubMed:8826441}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.	268392;268762;268397;268766;395;1048;268388;268758;413690;64738;268384;268752;268377;268748;268740;268770;	9680386; 14702039; 16710414; 15489334; 7920641; 12370778; 21269460; 7726158; 7564788; 7647779; 8826441; 8940272; 8895734; 9545406; 9545395; 9781030; 9719624; 10323741; 10536004; 10679944; 15534175; 18987736; 20236116; 25736335
1	16376518	21	N	<DEL>	128.36	DEL	0/1	16386257	CLCNKB	TRUE	P51801	reviewed	Chloride channel protein ClC-Kb (Chloride channel Kb) (ClC-K2)	CLCNKB	5 out of 5	TISSUE SPECIFICITY: Expressed predominantly in the kidney. {ECO:0000269|PubMed:11734858}.	chloride transmembrane transport [GO:1902476]; excretion [GO:0007588]; ion transmembrane transport [GO:0034220]; transport [GO:0006810]	DISEASE: Bartter syndrome 3 (BS3) [MIM:607364]: An autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. {ECO:0000269|PubMed:9326936}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Bartter syndrome 4B (BS4B) [MIM:613090]: A digenic, recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. Bartter syndrome type 4B is associated with sensorineural deafness. {ECO:0000269|PubMed:15044642, ECO:0000269|PubMed:18310267}. Note=The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. Loss-of-function of both CLCNKA and CLCNKB results in the disease phenotype (PubMed:18310267). {ECO:0000269|PubMed:18310267}.	93605;358;89938;	8041726; 8544406; 14702039; 16710414; 11734858; 15044642; 18310267; 9326936
1	16376518	21	N	<DEL>	128.36	DEL	0/1	16386257	CLCNKB	TRUE	P51801	reviewed	Chloride channel protein ClC-Kb (Chloride channel Kb) (ClC-K2)	CLCNKB	5 out of 5	TISSUE SPECIFICITY: Expressed predominantly in the kidney. {ECO:0000269|PubMed:11734858}.	chloride transmembrane transport [GO:1902476]; excretion [GO:0007588]; ion transmembrane transport [GO:0034220]; transport [GO:0006810]	DISEASE: Bartter syndrome 3 (BS3) [MIM:607364]: An autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. {ECO:0000269|PubMed:9326936}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Bartter syndrome 4B (BS4B) [MIM:613090]: A digenic, recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. Bartter syndrome type 4B is associated with sensorineural deafness. {ECO:0000269|PubMed:15044642, ECO:0000269|PubMed:18310267}. Note=The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. Loss-of-function of both CLCNKA and CLCNKB results in the disease phenotype (PubMed:18310267). {ECO:0000269|PubMed:18310267}.	93605;358;89938;	8041726; 8544406; 14702039; 16710414; 11734858; 15044642; 18310267; 9326936
1	25613678	38	N	<DUP>	61.26	DUP	0/1	25732108	RHD	TRUE	Q02161	reviewed	Blood group Rh(D) polypeptide (RHXIII) (Rh polypeptide 2) (RhPII) (Rhesus D antigen) (CD antigen CD240D)	RHD	5 out of 5	TISSUE SPECIFICITY: Restricted to tissues or cell lines expressing erythroid characters.	ammonium transmembrane transport [GO:0072488]; nitrogen utilization [GO:0019740]; organic cation transport [GO:0015695]	NA	71275;	1438298; 1379850; 8329718; 7916743; 8180407; 7606008; 8080999; 16510313; 16710414; 3146980; 3131772; 3135863; 1898705; 7741145; 16959974
1	31538347	50	N	<DEL>	60.94	DEL	0/1	31538609	PUM1	TRUE	Q14671	reviewed	Pumilio homolog 1 (HsPUM) (Pumilio-1)	PUM1 KIAA0099 PUMH1	5 out of 5	TISSUE SPECIFICITY: Expressed in brain, heart, kidney, muscle, intestine and stomach. Not expressed in cerebellum, corpus callosum, caudate nucleus, hippocampus, medulla oblongata and putamen. Expressed in all fetal tissues tested. {ECO:0000269|PubMed:12459267}.	adult locomotory behavior [GO:0008344]; mRNA destabilization [GO:0061157]; positive regulation of gene silencing by miRNA [GO:2000637]; positive regulation of RIG-I signaling pathway [GO:1900246]; posttranscriptional gene silencing [GO:0016441]; posttranscriptional regulation of gene expression [GO:0010608]; regulation of cell cycle [GO:0051726]; regulation of chromosome segregation [GO:0051983]; regulation of gene silencing by miRNA [GO:0060964]; regulation of mRNA stability [GO:0043488]; spermatogenesis [GO:0007283]; stem cell differentiation [GO:0048863]	NA	NA	12459267; 7788527; 14702039; 16710414; 15489334; 12771951; 17081983; 18691976; 18776931; 18669648; 19690332; 20818387; 20068231; 20860814; 21269460; 21572425; 21406692; 22345517; 22955276; 22814378; 23186163; 24275569; 25340845; 25768905; 26724866; 11336708; 12202039; 18328718; 21653694; 21397187
1	63610935	255	N	<DEL>	6.08	DEL	0/1	234765133	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
1	89475920	115	N	<DEL>	0.04	DEL	0/0	89478573	GBP3	TRUE	Q9H0R5	reviewed	Guanylate-binding protein 3 (EC 3.6.5.-) (GTP-binding protein 3) (GBP-3) (Guanine nucleotide-binding protein 3)	GBP3	5 out of 5	NA	defense response to virus [GO:0051607]	NA	NA	22106366; 11230166; 16710414; 15489334; 17266443; 21151871
1	108733325	135	N	<DEL>	234.51	DEL	1/1	108737251	SLC25A24	TRUE	Q6NUK1	reviewed	Calcium-binding mitochondrial carrier protein SCaMC-1 (Mitochondrial ATP-Mg/Pi carrier protein 1) (Mitochondrial Ca(2+)-dependent solute carrier protein 1) (Small calcium-binding mitochondrial carrier protein 1) (Solute carrier family 25 member 24)	SLC25A24 APC1 MCSC1 SCAMC1	5 out of 5	TISSUE SPECIFICITY: Present in various cell lines (at protein level). Expressed in all tissues tested. Highly expressed in testis, expressed at intermediate level in small intestine and pancreas, and weakly expressed in kidney, spleen, liver, skeletal muscle and heart. {ECO:0000269|PubMed:15054102, ECO:0000269|PubMed:15123600}.	ATP transport [GO:0015867]; cellular response to calcium ion [GO:0071277]; cellular response to oxidative stress [GO:0034599]; mitochondrial transport [GO:0006839]; regulation of cell death [GO:0010941]; translation [GO:0006412]	NA	NA	15054102; 15123600; 14702039; 16710414; 15489334; 19608861; 21269460; 22015608; 25944712; 24332718
1	120393297	156	N	<DEL>	0.01	DEL	0/0	147389651	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
1	144896296	151	N	<DEL>	385.9	DEL	0/1	144906809	PDE4DIP	TRUE	Q5VU43	reviewed	Myomegalin (Cardiomyopathy-associated protein 2) (Phosphodiesterase 4D-interacting protein)	PDE4DIP CMYA2 KIAA0454 KIAA0477 MMGL	5 out of 5	TISSUE SPECIFICITY: Highly expressed in heart and skeletal muscle and to a lower extent in brain and placenta. {ECO:0000269|PubMed:11374908}.	cellular protein complex assembly [GO:0043623]	DISEASE: Note=A chromosomal aberration involving PDE4DIP may be the cause of a myeloproliferative disorder (MBD) associated with eosinophilia. Translocation t(1;5)(q23;q33) that forms a PDE4DIP-PDGFRB fusion protein. {ECO:0000269|PubMed:12907457}.	NA	11374908; 9455484; 12168954; 17974005; 16710414; 15489334; 14702039; 12907457; 21269460; 23186163; 24275569; 18669648
1	144901180	152	N	<DEL>	312.01	DEL	0/1	144906809	PDE4DIP	TRUE	Q5VU43	reviewed	Myomegalin (Cardiomyopathy-associated protein 2) (Phosphodiesterase 4D-interacting protein)	PDE4DIP CMYA2 KIAA0454 KIAA0477 MMGL	5 out of 5	TISSUE SPECIFICITY: Highly expressed in heart and skeletal muscle and to a lower extent in brain and placenta. {ECO:0000269|PubMed:11374908}.	cellular protein complex assembly [GO:0043623]	DISEASE: Note=A chromosomal aberration involving PDE4DIP may be the cause of a myeloproliferative disorder (MBD) associated with eosinophilia. Translocation t(1;5)(q23;q33) that forms a PDE4DIP-PDGFRB fusion protein. {ECO:0000269|PubMed:12907457}.	NA	11374908; 9455484; 12168954; 17974005; 16710414; 15489334; 14702039; 12907457; 21269460; 23186163; 24275569; 18669648
1	200378751	210	N	<DEL>	7.13	DEL	0/1	200379078	ZNF281	TRUE	Q9Y2X9	reviewed	Zinc finger protein 281 (GC-box-binding zinc finger protein 1) (Transcription factor ZBP-99) (Zinc finger DNA-binding protein 99)	ZNF281 GZP1 ZBP99	5 out of 5	NA	embryonic body morphogenesis [GO:0010172]; negative regulation of gene expression [GO:0010629]; negative regulation of transcription, DNA-templated [GO:0045892]; negative regulation of transcription from RNA polymerase II promoter [GO:0000122]; positive regulation of transcription, DNA-templated [GO:0045893]; stem cell differentiation [GO:0048863]; transcription, DNA-templated [GO:0006351]	NA	NA	10448078; 10405178; 14702039; 16710414; 15489334; 12771217; 17525332; 18691976; 18669648; 19413330; 20068231; 21269460; 21406692; 22814378; 23186163; 24275569; 25218447; 25772364; 25755297; 16959974
1	209935007	217	N	<DUP>	205.77	DUP	1/1	209936075	TRAF3IP3	TRUE	Q9Y228	reviewed	TRAF3-interacting JNK-activating modulator (TRAF3-interacting protein 3)	TRAF3IP3 T3JAM	5 out of 5	NA	NA	NA	NA	16710414; 15489334; 17203973; 25944712; 16959974
1	209935338	218	N	<DEL>	143.73	DEL	0/1	209936076	TRAF3IP3	TRUE	Q9Y228	reviewed	TRAF3-interacting JNK-activating modulator (TRAF3-interacting protein 3)	TRAF3IP3 T3JAM	5 out of 5	NA	NA	NA	NA	16710414; 15489334; 17203973; 25944712; 16959974
1	225133345	242	N	<DUP>	0.01	DUP	0/0	225248351	DNAH14	TRUE	Q0VDD8	reviewed	Dynein heavy chain 14, axonemal (Axonemal beta dynein heavy chain 14) (Ciliary dynein heavy chain 14)	DNAH14 C1orf67	5 out of 5	NA	microtubule-based movement [GO:0007018]	NA	NA	16710414; 15489334
1	248155593	277	N	<DUP>	156.82	DUP	0/1	248202616	OR2L13	FALSE	Q8N349	reviewed	Olfactory receptor 2L13 (Olfactory receptor 2L14)	OR2L13 OR2L14	3 out of 5	NA	G-protein coupled receptor signaling pathway [GO:0007186]; sensory perception of smell [GO:0007608]	NA	NA	16710414; 15489334
2	33091761	337	N	<DEL>	8.77	DEL	0/1	41973155	LINC00486	TRUE	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
2	89161436	384_1	N	[2:90260251[N	160.19	BND	0/1	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
2	97823808	3851_1	N	[10:87115250[N	59.32	BND	0/1	NA	ANKRD36	FALSE	A6QL64	reviewed	Ankyrin repeat domain-containing protein 36A	ANKRD36 ANKRD36A KIAA1641 UNQ2430/PRO499	3 out of 5	NA	NA	NA	NA	10997877; 12975309; 14702039; 15815621; 15489334; 
2	130954921	428	N	<DEL>	0.7	DEL	0/0	130957387	TUBA3E	TRUE	Q6PEY2	reviewed	Tubulin alpha-3E chain (Alpha-tubulin 3E)	TUBA3E	5 out of 5	NA	microtubule-based process [GO:0007017]	NA	NA	15815621; 15489334; 19524510; 26875866
3	10088184	583	N	<DUP>	0.02	DUP	0/0	11911945	FANCD2	TRUE	Q9BXW9	reviewed	Fanconi anemia group D2 protein (Protein FACD2)	FANCD2 FACD	5 out of 5	TISSUE SPECIFICITY: Highly expressed in germinal center cells of the spleen, tonsil, and reactive lymph nodes, and in the proliferating basal layer of squamous epithelium of tonsil, esophagus, oropharynx, larynx and cervix. Expressed in cytotrophoblastic cells of the placenta and exocrine cells of the pancreas (at protein level). Highly expressed in testis, where expression is restricted to maturing spermatocytes. {ECO:0000269|PubMed:11239453, ECO:0000269|PubMed:14517836, ECO:0000269|PubMed:15454491}.	gamete generation [GO:0007276]; interstrand cross-link repair [GO:0036297]; response to gamma radiation [GO:0010332]; synapsis [GO:0007129]	DISEASE: Fanconi anemia complementation group D2 (FANCD2) [MIM:227646]: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. {ECO:0000269|PubMed:11239453}. Note=The disease is caused by mutations affecting the gene represented in this entry.	84;	11239453; 15489334; 14702039; 17974005; 11239454; 12239151; 12086603; 12093742; 12649160; 12874027; 14517836; 12973351; 14988723; 15257300; 15314022; 15115758; 15377654; 15199141; 15502827; 15454491; 15661754; 15671039; 15694335; 16116422; 15650050; 16916645; 17412408; 17460694; 17525332; 18691976; 19111657; 18212739; 18469862; 18669648; 19413330; 19369195; 19465922; 19465921; 20603015; 20603016; 20603073; 20068231; 21269460; 21406692; 23186163
3	96604806	748	N	<DEL>	0.35	DEL	0/0	177602862	EPHA6	TRUE	Q9UF33	reviewed	Ephrin type-A receptor 6 (EC 2.7.10.1) (EPH homology kinase 2) (EHK-2) (EPH-like kinase 12) (EK12)	EPHA6 EHK2 HEK12	5 out of 5	TISSUE SPECIFICITY: Expressed in brain and testis. {ECO:0000269|PubMed:14726470}.	ephrin receptor signaling pathway [GO:0048013]	NA	NA	17974005; 16641997; 14726470; 17344846
3	97859894	656	N	<DEL>	58.78	DEL	0/1	97902338	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
3	129763382	695	N	<DEL>	380.52	DEL	1/1	129806745	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
3	130132025	696	N	<DEL>	269.4	DEL	0/1	130132898	COL6A5	TRUE	A8TX70	reviewed	Collagen alpha-5(VI) chain (Collagen alpha-1(XXIX) chain) (von Willebrand factor A domain-containing protein 4)	COL6A5 COL29A1 VWA4	5 out of 5	TISSUE SPECIFICITY: Expressed in skin, followed by lung, small intestine, colon and testis. In skin, it is expressed in the epidermis with strongest staining in suprabasal viable layers. In ATOD patients, it is absent in the most differentiated upper spinous and granular layers (at protein level). {ECO:0000269|PubMed:17850181}.	cell adhesion [GO:0007155]; collagen catabolic process [GO:0030574]	DISEASE: Note=Patients affected by atopic dermatitis display an abnormal distribution of COL29A1 mRNA and protein in skin suggesting that COL29A1 may be involved in the pathogenesis of the disease.	NA	17850181; 18276594; 16641997; 14702039
3	196044722	783	N	<DEL>	44.76	DEL	0/1	196044952	TM4SF19-TCTEX1D2	FALSE	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
4	26111271	989	N	<DEL>	0.06	DEL	0/0	161973390	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
4	83294405	893	N	<DEL>	7.13	DEL	0/1	83294547	HNRNPD	FALSE	Q14103	reviewed	Heterogeneous nuclear ribonucleoprotein D0 (hnRNP D0) (AU-rich element RNA-binding protein 1)	HNRNPD AUF1 HNRPD	5 out of 5	NA	3'-UTR-mediated mRNA destabilization [GO:0061158]; cellular response to amino acid stimulus [GO:0071230]; cellular response to estradiol stimulus [GO:0071392]; cellular response to nitric oxide [GO:0071732]; cellular response to putrescine [GO:1904586]; cerebellum development [GO:0021549]; circadian regulation of translation [GO:0097167]; gene expression [GO:0010467]; hepatocyte dedifferentiation [GO:1990828]; liver development [GO:0001889]; mRNA splicing, via spliceosome [GO:0000398]; mRNA stabilization [GO:0048255]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of translation [GO:0045727]; regulation of circadian rhythm [GO:0042752]; regulation of mRNA stability [GO:0043488]; regulation of transcription, DNA-templated [GO:0006355]; response to calcium ion [GO:0051592]; response to electrical stimulus [GO:0051602]; response to fluoxetine [GO:0014076]; response to rapamycin [GO:1901355]; response to sodium phosphate [GO:1904383]; RNA catabolic process [GO:0006401]; RNA processing [GO:0006396]; transcription, DNA-templated [GO:0006351]	NA	NA	7673195; 9615222; 14702039; 15815621; 15489334; 3754960; 10024518; 1433497; 8321232; 9521873; 11051545; 12674497; 15782174; 17081983; 17289661; 19367720; 18691976; 18669648; 18318008; 19413330; 19369195; 19690332; 19608861; 20068231; 21269460; 21515746; 21406692; 23186163; 24275569; 24423872; 25114211; 25944712; 10080887
4	94047587	909	N	<DUP>	26.63	DUP	0/1	94111835	GRID2	FALSE	O43424	reviewed	Glutamate receptor ionotropic, delta-2 (GluD2) (GluR delta-2 subunit)	GRID2 GLURD2	5 out of 5	NA	cellular protein localization [GO:0034613]; cerebellar granule cell differentiation [GO:0021707]; excitatory postsynaptic potential [GO:0060079]; glutamate receptor signaling pathway [GO:0007215]; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0007157]; prepulse inhibition [GO:0060134]; regulation of neuron apoptotic process [GO:0043523]; regulation of neuron projection development [GO:0010975]; synaptic transmission, glutamatergic [GO:0035249]; transport [GO:0006810]	DISEASE: Spinocerebellar ataxia, autosomal recessive, 18 (SCAR18) [MIM:616204]: Spinocerebellar ataxia defines a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR18 features include progressive cerebellar atrophy, delayed psychomotor development, severely impaired gait, ocular movement abnormalities, and intellectual disability. {ECO:0000269|PubMed:23611888, ECO:0000269|PubMed:24078737, ECO:0000269|PubMed:25841024}. Note=The disease is caused by mutations affecting the gene represented in this entry.	363432;	9465309; 15815621; 15489334; 23611888; 24078737; 16959974; 25841024
4	155278472	3732_2	N	]1:17539678]N	52.04	BND	0/1	NA	DCHS2	TRUE	Q6V1P9	reviewed	Protocadherin-23 (Cadherin-27) (Cadherin-like protein CDHJ) (Cadherin-like protein VR8) (Protein dachsous homolog 2) (Protocadherin PCDHJ)	DCHS2 CDH27 CDHJ PCDH23 PCDHJ	5 out of 5	TISSUE SPECIFICITY: Cerebral cortex and testis. {ECO:0000269|PubMed:15003449}.	homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]	NA	NA	15003449; 14702039; 15815621; 15489334
5	693317	1044	N	<DUP>	0.01	DUP	0/0	784716	TPPP	TRUE	O94811	reviewed	Tubulin polymerization-promoting protein (TPPP) (25 kDa brain-specific protein) (TPPP/p25) (p24) (p25-alpha)	TPPP TPPP1	5 out of 5	TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:10083737}.	microtubule bundle formation [GO:0001578]; microtubule polymerization [GO:0046785]; positive regulation of protein complex assembly [GO:0031334]; positive regulation of protein polymerization [GO:0032273]	NA	NA	10083737; 15489334; 15590652; 17105200; 17027006; 18028908; 17693641; 18220336; 18669648; 19690332; 20068231; 24275569
5	76506350	1137	N	<DEL>	48.54	DEL	0/1	76506717	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
5	115351065	1187_2	N	N]5:115346717]	606.23	BND	0/1	NA	LVRN	TRUE	Q6Q4G3	reviewed	Aminopeptidase Q (AP-Q) (APQ) (EC 3.4.11.-) (CHL2 antigen) (Laeverin)	LVRN AQPEP	5 out of 5	TISSUE SPECIFICITY: Specifically expressed in placenta and not in other tissues. Mainly found at the cell surface region of the extravillous trophoblasts. Detected on extravillous trophoblasts in the outer layer of the chorion laeve in the fetal membrane Not detected on either fetal amnionic epithelial cells or maternal decidual cells. Also detected in the migrating extravillous trophoblasts in the maternal decidual tissues (at protein level). {ECO:0000269|PubMed:14706636}.	cell-cell signaling [GO:0007267]; peptide catabolic process [GO:0043171]; proteolysis [GO:0006508]; regulation of blood pressure [GO:0008217]; signal transduction [GO:0007165]	NA	NA	14706636; 14702039; 15372022; 15489334; 17525158
5	132918980	1214	N	<DEL>	380.52	DEL	1/1	132924990	FSTL4	FALSE	Q6MZW2	reviewed	Follistatin-related protein 4 (Follistatin-like protein 4)	FSTL4 KIAA1061	3 out of 5	NA	negative regulation of brain-derived neurotrophic factor receptor signaling pathway [GO:0031549]; negative regulation of collateral sprouting [GO:0048671]; negative regulation of dendritic spine development [GO:0061000]	NA	NA	17974005; 15372022; 15489334; 10470851; 15527507
6	32495988	1344	N	<DUP>	93.35	DUP	0/1	32539032	HLA-DRB5	TRUE	Q30154	reviewed	HLA class II histocompatibility antigen, DR beta 5 chain (DR beta-5) (DR2-beta-2) (Dw2) (MHC class II antigen DRB5)	HLA-DRB5	5 out of 5	NA	antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; interferon-gamma-mediated signaling pathway [GO:0060333]; T cell costimulation [GO:0031295]; T cell receptor signaling pathway [GO:0050852]	NA	NA	3099214; 3571980; 3259543; 2001975; 14702039; 14574404; 15489334; 9162096; 2885840; 3476943; 6576979; 8773325; 9226128; 14617041; 16671952; 9458128; 9694360; 1471145; 8598037; 11684289; 17241953; 18046453; 18305173; 19092054; 19533806; 19159218; 21269460; 11080454; 11163233; 12244309; 16079912
6	35754560	1365	N	<DUP>	148.1	DUP	0/1	35766788	CLPSL1	TRUE	A2RUU4	reviewed	Colipase-like protein 1	CLPSL1 C6orf127	3 out of 5	TISSUE SPECIFICITY: Exclusively expressed in epididymis, in the corpus region. {ECO:0000269|PubMed:18390568}.	digestion [GO:0007586]; lipid catabolic process [GO:0016042]	NA	NA	18390568; 14574404; 15489334
6	38696155	1367	N	<DUP>	46.89	DUP	0/1	38701014	DNAH8	TRUE	Q96JB1	reviewed	Dynein heavy chain 8, axonemal (Axonemal beta dynein heavy chain 8) (Ciliary dynein heavy chain 8)	DNAH8	5 out of 5	NA	cilium or flagellum-dependent cell motility [GO:0001539]; microtubule-based movement [GO:0007018]	NA	NA	12297094; 14574404; 9373155; 18691976; 16959974
6	38696194	1368	N	<DEL>	84.67	DEL	0/1	38701056	DNAH8	TRUE	Q96JB1	reviewed	Dynein heavy chain 8, axonemal (Axonemal beta dynein heavy chain 8) (Ciliary dynein heavy chain 8)	DNAH8	5 out of 5	NA	cilium or flagellum-dependent cell motility [GO:0001539]; microtubule-based movement [GO:0007018]	NA	NA	12297094; 14574404; 9373155; 18691976; 16959974
6	42266855	1397	N	<DEL>	101.66	DEL	0/1	64590348	TRERF1	TRUE	Q96PN7	reviewed	Transcriptional-regulating factor 1 (Breast cancer anti-estrogen resistance 2) (Transcriptional-regulating protein 132) (Zinc finger protein rapa) (Zinc finger transcription factor TReP-132)	TRERF1 BCAR2 RAPA TREP132	5 out of 5	TISSUE SPECIFICITY: Highest expression was seen in thymus, testis and adrenal cortex, expressed also in the adrenal medulla, thyroid, and stomach. Highly expressed in steroidogenic JEG-3 and MCF-7 cells, low expression was seen in non-steroidogenic Hep-G2 and HEK293 cells. {ECO:0000269|PubMed:11349124}.	cholesterol catabolic process [GO:0006707]; homeostatic process [GO:0042592]; multicellular organism development [GO:0007275]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of hormone biosynthetic process [GO:0046885]; regulation of transcription from RNA polymerase II promoter [GO:0006357]; steroid biosynthetic process [GO:0006694]; transcription, DNA-templated [GO:0006351]	NA	NA	11349124; 18351453; 14574404; 14702039; 16371131; 18669648; 19690332; 19608861; 21573134; 21406692; 23186163
6	69682558	1410	N	<DUP>	242.17	DUP	1/1	69687694	ADGRB3	TRUE	O60242	reviewed	Adhesion G protein-coupled receptor B3 (Brain-specific angiogenesis inhibitor 3)	ADGRB3 BAI3 KIAA0550	5 out of 5	TISSUE SPECIFICITY: Strongly expressed in brain. Also detected in heart. Reduced expression in some glioblastoma cell lines. {ECO:0000269|PubMed:9533023}.	cell surface receptor signaling pathway [GO:0007166]; G-protein coupled receptor signaling pathway [GO:0007186]; myoblast fusion [GO:0007520]; negative regulation of angiogenesis [GO:0016525]; positive regulation of synapse assembly [GO:0051965]; regulation of dendrite morphogenesis [GO:0048814]	NA	NA	9533023; 9628581; 12168954; 14702039; 14574404; 15489334; 18669648; 21262840; 24567399; 22333914; 25713288
6	69683095	1411	N	<DEL>	84.67	DEL	0/1	69691832	ADGRB3	TRUE	O60242	reviewed	Adhesion G protein-coupled receptor B3 (Brain-specific angiogenesis inhibitor 3)	ADGRB3 BAI3 KIAA0550	5 out of 5	TISSUE SPECIFICITY: Strongly expressed in brain. Also detected in heart. Reduced expression in some glioblastoma cell lines. {ECO:0000269|PubMed:9533023}.	cell surface receptor signaling pathway [GO:0007166]; G-protein coupled receptor signaling pathway [GO:0007186]; myoblast fusion [GO:0007520]; negative regulation of angiogenesis [GO:0016525]; positive regulation of synapse assembly [GO:0051965]; regulation of dendrite morphogenesis [GO:0048814]	NA	NA	9533023; 9628581; 12168954; 14702039; 14574404; 15489334; 18669648; 21262840; 24567399; 22333914; 25713288
6	72863851	1414	N	<DEL>	195.51	DEL	0/1	72873540	RIMS1	FALSE	Q86UR5	reviewed	Regulating synaptic membrane exocytosis protein 1 (Rab-3-interacting molecule 1) (RIM 1) (Rab-3-interacting protein 2)	RIMS1 KIAA0340 RAB3IP2 RIM1 Nbla00761	5 out of 5	TISSUE SPECIFICITY: Expressed in melanocytes (PubMed:23999003). Detected in brain and retina (PubMed:23999003). {ECO:0000269|PubMed:23999003}.	calcium ion regulated exocytosis [GO:0017156]; glutamate secretion [GO:0014047]; intracellular protein transport [GO:0006886]; long-term synaptic potentiation [GO:0060291]; membrane fusion [GO:0061025]; neurotransmitter secretion [GO:0007269]; positive regulation of dendrite extension [GO:1903861]; positive regulation of excitatory postsynaptic potential [GO:2000463]; positive regulation of gene expression [GO:0010628]; positive regulation of inhibitory postsynaptic potential [GO:0097151]; protein complex assembly [GO:0006461]; regulated exocytosis [GO:0045055]; regulation of neurotransmitter secretion [GO:0046928]; response to stimulus [GO:0050896]; secretion [GO:0046903]; synaptic vesicle exocytosis [GO:0016079]; visual perception [GO:0007601]	DISEASE: Cone-rod dystrophy 7 (CORD7) [MIM:603649]: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. {ECO:0000269|PubMed:12659814}. Note=The disease may be caused by mutations affecting the gene represented in this entry.	1872;	12659814; 9205841; 14702039; 14574404; 15489334; 11438518; 18220336; 18669648; 23999003; 
6	136582615	1496	N	<DEL>	227.87	DEL	0/1	136589299	BCLAF1	TRUE	Q9NYF8	reviewed	Bcl-2-associated transcription factor 1 (Btf)	BCLAF1 BTF KIAA0164	5 out of 5	TISSUE SPECIFICITY: Ubiquitous.	apoptotic process [GO:0006915]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of apoptotic process [GO:0043065]; positive regulation of DNA-templated transcription, initiation [GO:2000144]; positive regulation of intrinsic apoptotic signaling pathway [GO:2001244]; positive regulation of response to DNA damage stimulus [GO:2001022]; regulation of DNA-templated transcription in response to stress [GO:0043620]; transcription, DNA-templated [GO:0006351]	NA	NA	10330179; 8724849; 14574404; 15489334; 15009215; 17081983; 17487921; 17924679; 18794151; 19367720; 18669648; 18318008; 19413330; 19690332; 19608861; 20068231; 21269460; 21406692; 24100041; 23186163; 24275569; 25218447; 25114211; 25772364; 25755297
6	167662634	1483	N	<DUP>	0.02	DUP	0/0	167821410	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
7	15692714	1763	N	<DEL>	48.54	DEL	0/1	148818486	MEOX2	TRUE	P50222	reviewed	Homeobox protein MOX-2 (Growth arrest-specific homeobox) (Mesenchyme homeobox 2)	MEOX2 GAX MOX2	5 out of 5	TISSUE SPECIFICITY: Embryo and placenta.	angiogenesis [GO:0001525]; blood circulation [GO:0008015]; limb development [GO:0060173]; multicellular organism development [GO:0007275]; negative regulation of cell migration involved in sprouting angiogenesis [GO:0090051]; neuron death [GO:0070997]; palate development [GO:0060021]; positive regulation of transcription from RNA polymerase II promoter [GO:0045944]; skeletal muscle tissue development [GO:0007519]; somite specification [GO:0001757]	NA	NA	7607679; 7713505; 14702039; 12853948; 15489334; 16335786; 19760604; 19266028; 22206000
7	56557337	1634	N	<DUP>	0.02	DUP	0/0	57477889	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
7	66193572	1664	N	<DUP>	84.78	DUP	0/1	73382119	RABGEF1	TRUE	Q9UJ41	reviewed	Rab5 GDP/GTP exchange factor (RAP1) (Rabaptin-5-associated exchange factor for Rab5) (Rabex-5)	RABGEF1 RABEX5	5 out of 5	NA	endocytosis [GO:0006897]; negative regulation of inflammatory response [GO:0050728]; negative regulation of interleukin-6 secretion [GO:1900165]; negative regulation of Kit signaling pathway [GO:1900235]; negative regulation of leukocyte migration [GO:0002686]; negative regulation of mast cell degranulation [GO:0043305]; negative regulation of protein phosphorylation [GO:0001933]; negative regulation of Ras protein signal transduction [GO:0046580]; negative regulation of receptor-mediated endocytosis [GO:0048261]; protein targeting to membrane [GO:0006612]; regulation of Fc receptor mediated stimulatory signaling pathway [GO:0060368]	NA	NA	11098082; 14702039; 12853948; 15489334; 9323142; 11452015; 12505986; 18088087; 18691976; 18669648; 19690332; 19608861; 20068231; 23186163; 24275569; 15339665; 16499958; 17450153
7	72355089	1713	N	<DUP>	107.15	DUP	0/1	102009660	POM121	TRUE	Q96HA1	reviewed	Nuclear envelope pore membrane protein POM 121 (Nuclear envelope pore membrane protein POM 121A) (Nucleoporin Nup121) (Pore membrane protein of 121 kDa)	POM121 KIAA0618 NUP121 POM121A	5 out of 5	NA	gene silencing by RNA [GO:0031047]; intracellular transport of virus [GO:0075733]; mitotic nuclear envelope disassembly [GO:0007077]; mRNA export from nucleus [GO:0006406]; protein sumoylation [GO:0016925]; protein transport [GO:0015031]; regulation of cellular response to heat [GO:1900034]; regulation of glucose transport [GO:0010827]; tRNA export from nucleus [GO:0006409]; viral process [GO:0016032]; viral transcription [GO:0019083]	NA	NA	9734811; 14702039; 12853948; 15489334; 17900573; 17974005; 18669648; 19413330; 20068231; 21406692; 23186163
7	76128471	1671	N	<DUP>	40.77	DUP	0/1	76628345	DTX2	TRUE	Q86UW9	reviewed	Probable E3 ubiquitin-protein ligase DTX2 (EC 6.3.2.-) (Protein deltex-2) (Deltex2) (hDTX2) (RING finger protein 58)	DTX2 KIAA1528 RNF58	5 out of 5	NA	Notch signaling pathway [GO:0007219]; protein ubiquitination [GO:0016567]	NA	NA	12670957; 10819331; 14702039; 12853948; 15489334; 11564735; 18669648; 19608861; 23186163
7	142199923	1755	N	<DUP>	5.22	DUP	0/1	142226534	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
8	39232074	1837	N	<DEL>	156.41	DEL	0/1	39387228	ADAM5	TRUE	Q6NVV9	reviewed	Putative disintegrin and metalloproteinase domain-containing protein 5 (Putative transmembrane metalloproteinase-like, disintegrin-like, and cysteine-rich protein II) (tMDC II)	ADAM5 ADAM5P TMDC2	3 out of 5	TISSUE SPECIFICITY: Highly expressed in testis. {ECO:0000269|PubMed:10417343}.	NA	NA	NA	10417343; 16421571; 15489334
9	93670595	2049	N	<DUP>	0.01	DUP	0/0	96381179	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
9	97062959	2051	N	<DEL>	1.23	DEL	0/0	97063275	ZNF169	TRUE	Q14929	reviewed	Zinc finger protein 169	ZNF169	4 out of 5	TISSUE SPECIFICITY: Highly expressed in kidney, weakly expressed in heart, liver, spleen, and small intestine. Not expressed in adult brain or spinal cord.	regulation of transcription, DNA-templated [GO:0006355]; transcription, DNA-templated [GO:0006351]	NA	NA	14702039; 15164053; 15489334; 9071574
9	110537535	2064	N	<DEL>	410.39	DEL	1/1	110540595	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
9	140772668	2102	N	<DEL>	233.8	DEL	0/1	140777194	CACNA1B	TRUE	Q00975	reviewed	Voltage-dependent N-type calcium channel subunit alpha-1B (Brain calcium channel III) (BIII) (Calcium channel, L type, alpha-1 polypeptide isoform 5) (Voltage-gated calcium channel subunit alpha Cav2.2)	CACNA1B CACH5 CACNL1A5	5 out of 5	TISSUE SPECIFICITY: Isoform Alpha-1b-1 and isoform Alpha-1b-2 are expressed in the central nervous system, but not in skeletal muscle or aorta.	locomotory behavior [GO:0007626]; membrane depolarization [GO:0051899]; membrane depolarization during action potential [GO:0086010]; neurotransmitter secretion [GO:0007269]; regulation of blood pressure [GO:0008217]; regulation of calcium ion transport [GO:0051924]; regulation of heart contraction [GO:0008016]; response to pain [GO:0048265]; synaptic transmission [GO:0007268]; transport [GO:0006810]	DISEASE: Dystonia 23 (DYT23) [MIM:614860]: A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT23 is an autosomal dominant dystonia affecting the face, neck, limbs. Some DYT23 patients manifest generalized myoclonus in addition to progressive action-induced multifocal dystonia. {ECO:0000269|PubMed:25296916}. Note=The disease is caused by mutations affecting the gene represented in this entry.	NA	1321501; 15164053; 9030575; 25296916
9	140772669	2101	N	<DEL>	158.57	DEL	0/1	140773504	CACNA1B	FALSE	Q00975	reviewed	Voltage-dependent N-type calcium channel subunit alpha-1B (Brain calcium channel III) (BIII) (Calcium channel, L type, alpha-1 polypeptide isoform 5) (Voltage-gated calcium channel subunit alpha Cav2.2)	CACNA1B CACH5 CACNL1A5	5 out of 5	TISSUE SPECIFICITY: Isoform Alpha-1b-1 and isoform Alpha-1b-2 are expressed in the central nervous system, but not in skeletal muscle or aorta.	locomotory behavior [GO:0007626]; membrane depolarization [GO:0051899]; membrane depolarization during action potential [GO:0086010]; neurotransmitter secretion [GO:0007269]; regulation of blood pressure [GO:0008217]; regulation of calcium ion transport [GO:0051924]; regulation of heart contraction [GO:0008016]; response to pain [GO:0048265]; synaptic transmission [GO:0007268]; transport [GO:0006810]	DISEASE: Dystonia 23 (DYT23) [MIM:614860]: A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT23 is an autosomal dominant dystonia affecting the face, neck, limbs. Some DYT23 patients manifest generalized myoclonus in addition to progressive action-induced multifocal dystonia. {ECO:0000269|PubMed:25296916}. Note=The disease is caused by mutations affecting the gene represented in this entry.	NA	1321501; 15164053; 9030575; 25296916
9	140773612	2103	N	<DEL>	286.93	DEL	0/1	140777194	CACNA1B	FALSE	Q00975	reviewed	Voltage-dependent N-type calcium channel subunit alpha-1B (Brain calcium channel III) (BIII) (Calcium channel, L type, alpha-1 polypeptide isoform 5) (Voltage-gated calcium channel subunit alpha Cav2.2)	CACNA1B CACH5 CACNL1A5	5 out of 5	TISSUE SPECIFICITY: Isoform Alpha-1b-1 and isoform Alpha-1b-2 are expressed in the central nervous system, but not in skeletal muscle or aorta.	locomotory behavior [GO:0007626]; membrane depolarization [GO:0051899]; membrane depolarization during action potential [GO:0086010]; neurotransmitter secretion [GO:0007269]; regulation of blood pressure [GO:0008217]; regulation of calcium ion transport [GO:0051924]; regulation of heart contraction [GO:0008016]; response to pain [GO:0048265]; synaptic transmission [GO:0007268]; transport [GO:0006810]	DISEASE: Dystonia 23 (DYT23) [MIM:614860]: A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT23 is an autosomal dominant dystonia affecting the face, neck, limbs. Some DYT23 patients manifest generalized myoclonus in addition to progressive action-induced multifocal dystonia. {ECO:0000269|PubMed:25296916}. Note=The disease is caused by mutations affecting the gene represented in this entry.	NA	1321501; 15164053; 9030575; 25296916
10	105344521	2235	N	<DEL>	27.78	DEL	0/1	105344857	NEURL1	TRUE	O76050	reviewed	E3 ubiquitin-protein ligase NEURL1 (EC 6.3.2.-) (Neuralized-like protein 1A) (h-neu) (h-neuralized 1) (RING finger protein 67)	NEURL1 NEURL NEURL1A RNF67	5 out of 5	TISSUE SPECIFICITY: Expressed in brain, testis, pituitary gland, pancreas and bone marrow. Also poorly expressed in an malignant astrocytomas and several neuroectodermal tumor cell lines. Weakly expressed in medulloblastoma (MB) compared with normal cerebellar tissues. {ECO:0000269|PubMed:11585928, ECO:0000269|PubMed:9519875}.	brain development [GO:0007420]; cellular response to amino acid stimulus [GO:0071230]; lactation [GO:0007595]; negative regulation of cell proliferation [GO:0008285]; negative regulation of Notch signaling pathway [GO:0045746]; nervous system development [GO:0007399]; Notch signaling pathway [GO:0007219]; positive regulation of apoptotic process [GO:0043065]; positive regulation of dendritic spine development [GO:0060999]; positive regulation of epidermal growth factor-activated receptor activity [GO:0045741]; positive regulation of filopodium assembly [GO:0051491]; positive regulation of long-term neuronal synaptic plasticity [GO:0048170]; positive regulation of synapse maturation [GO:0090129]; protein monoubiquitination [GO:0006513]; skeletal muscle tissue development [GO:0007519]; sperm axoneme assembly [GO:0007288]; sperm motility [GO:0030317]	NA	NA	9519875; 15164054; 15489334; 11585928; 20847082
10	135242570	2281	N	<DUP>	0.11	DUP	0/0	135387275	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
11	7716915	2295	N	<DEL>	625.36	DEL	1/1	7717219	OVCH2	TRUE	Q7RTZ1	reviewed	Ovochymase-2 (EC 3.4.21.-) (Oviductin)	OVCH2 OVTN	4 out of 5	NA	NA	NA	NA	16554811; 12838346
11	31393776	2322	N	<DEL>	29.4	DEL	0/1	31397646	DNAJC24	FALSE	Q6P3W2	reviewed	DnaJ homolog subfamily C member 24 (CSL-type zinc finger-containing protein 3) (Diphthamide biosynthesis protein 4)	DNAJC24 DPH4 ZCSL3	5 out of 5	NA	chaperone-mediated protein folding [GO:0061077]; oxidation-reduction process [GO:0055114]; peptidyl-diphthamide biosynthetic process from peptidyl-histidine [GO:0017183]; positive regulation of ATPase activity [GO:0032781]	NA	NA	14702039; 16554811; 15489334; 22509046; 22367199; 16959974
11	47644331	2344	N	<DEL>	37.21	DEL	0/1	47647227	MTCH2	TRUE	Q9Y6C9	reviewed	Mitochondrial carrier homolog 2 (Met-induced mitochondrial protein)	MTCH2 MIMP HSPC032	5 out of 5	NA	hepatocyte apoptotic process [GO:0097284]; positive regulation of apoptotic process [GO:0043065]; protein localization to mitochondrion [GO:0070585]; regulation of mitochondrial membrane permeability involved in apoptotic process [GO:1902108]	NA	NA	12407445; 11042152; 14702039; 15489334; 19413330; 21269460; 24275569; 25944712
11	47660251	4304_1	N	]16:53044937]N	139.15	BND	0/1	NA	MTCH2	TRUE	Q9Y6C9	reviewed	Mitochondrial carrier homolog 2 (Met-induced mitochondrial protein)	MTCH2 MIMP HSPC032	5 out of 5	NA	hepatocyte apoptotic process [GO:0097284]; positive regulation of apoptotic process [GO:0043065]; protein localization to mitochondrion [GO:0070585]; regulation of mitochondrial membrane permeability involved in apoptotic process [GO:1902108]	NA	NA	12407445; 11042152; 14702039; 15489334; 19413330; 21269460; 24275569; 25944712
11	78369024	2393_2	N	N]11:57967348]	115.69	BND	0/1	NA	TENM4	TRUE	Q6N022	reviewed	Teneurin-4 (Ten-4) (Protein Odd Oz/ten-m homolog 4) (Tenascin-M4) (Ten-m4) (Teneurin transmembrane protein 4)	TENM4 KIAA1302 ODZ4 TNM4	5 out of 5	NA	cardiac cell fate specification [GO:0060912]; cardiac muscle cell proliferation [GO:0060038]; central nervous system myelin formation [GO:0032289]; gastrulation with mouth forming second [GO:0001702]; neuron development [GO:0048666]; positive regulation of gastrulation [GO:2000543]; positive regulation of myelination [GO:0031643]; positive regulation of oligodendrocyte differentiation [GO:0048714]; self proteolysis [GO:0097264]; signal transduction [GO:0007165]	NA	NA	16554811; 10718198; 12168954; 17974005; 14702039; 19690332
11	99690483	2412_1	N	N]11:99691307]	366.76	BND	0/1	NA	CNTN5	TRUE	O94779	reviewed	Contactin-5 (Neural recognition molecule NB-2) (hNB-2)	CNTN5	5 out of 5	TISSUE SPECIFICITY: Expressed in brain and kidney and at very low level in placenta. Not expressed in other tissues. In brain, it is highly expressed in the occipital lobe, amygdala, cerebral cortex, frontal lobe, thalamus and temporal lobe. Expressed at moderate level in the cerebellum, substantia nigra, putamen, medulla and hippocampus. Weakly expressed in the spinal cord and caudate nucleus. Weakly or not expressed in the corpus callosum. {ECO:0000269|PubMed:11013081}.	cell adhesion [GO:0007155]; sensory perception of sound [GO:0007605]	NA	NA	11013081; 16554811; 15489334; 20133774
12	11207685	2482	N	<DUP>	0.14	DUP	0/0	11237373	PRH1-TAS2R14	FALSE	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
12	53344194	3860_2	N	N]2:32048486]	220.59	BND	0/1	NA	KRT18	FALSE	P05783	reviewed	Keratin, type I cytoskeletal 18 (Cell proliferation-inducing gene 46 protein) (Cytokeratin-18) (CK-18) (Keratin-18) (K18)	KRT18 CYK18 PIG46	5 out of 5	TISSUE SPECIFICITY: Expressed in colon, placenta, liver and very weakly in exocervix. Increased expression observed in lymph nodes of breast carcinoma. {ECO:0000269|PubMed:17213200, ECO:0000269|PubMed:2422083, ECO:0000269|PubMed:2434380, ECO:0000269|PubMed:2434381}.	anatomical structure morphogenesis [GO:0009653]; cell cycle [GO:0007049]; extrinsic apoptotic signaling pathway [GO:0097191]; Golgi to plasma membrane CFTR protein transport [GO:0043000]; hepatocyte apoptotic process [GO:0097284]; intermediate filament cytoskeleton organization [GO:0045104]; negative regulation of apoptotic process [GO:0043066]; tumor necrosis factor-mediated signaling pathway [GO:0033209]; viral process [GO:0016032]	DISEASE: Cirrhosis (CIRRH) [MIM:215600]: A liver disease characterized by severe panlobular liver-cell swelling with Mallory body formation, prominent pericellular fibrosis, and marked deposits of copper. Clinical features include abdomen swelling, jaundice and pulmonary hypertension. {ECO:0000269|PubMed:12724528, ECO:0000269|PubMed:9011570}. Note=The disease is caused by mutations affecting the gene represented in this entry.	NA	2434380; 15489334; 2454392; 2434381; 2422083; 9150948; 1371281; 7523419; 7538124; 8522591; 8609167; 9298992; 9524113; 10809736; 10954706; 11684708; 14756564; 15368451; 15529338; 15731013; 17081983; 16424149; 17213200; 17924679; 18691976; 18669648; 19608861; 20729549; 20068231; 21269460; 21406692; 22002106; 22814378; 23902688; 23186163; 24275569; 25114211; 9011570; 12724528
13	78272254	2698	N	<DEL>	1.1	DEL	0/0	78272584	SLAIN1	TRUE	Q8ND83	reviewed	SLAIN motif-containing protein 1	SLAIN1 C13orf32	3 out of 5	TISSUE SPECIFICITY: Expressed in embryonic stem cells. {ECO:0000269|PubMed:16546155}.	NA	NA	NA	14702039; 17974005; 15057823; 15489334; 16546155; 19690332
14	37631609	2770	N	<DEL>	280.46	DEL	0/1	37771227	SLC25A21	TRUE	Q9BQT8	reviewed	Mitochondrial 2-oxodicarboxylate carrier (Solute carrier family 25 member 21)	SLC25A21 ODC	4 out of 5	TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:11083877}.	lysine catabolic process [GO:0006554]; translation [GO:0006412]	NA	NA	11083877; 14702039; 12508121; 15489334; 21269460
14	93712482	3785_2	N	[1:9121449[N	0.01	BND	0/0	NA	BTBD7	TRUE	Q9P203	reviewed	BTB/POZ domain-containing protein 7	BTBD7 KIAA1525	4 out of 5	NA	multicellular organism development [GO:0007275]; regulation of branching involved in salivary gland morphogenesis [GO:0060693]	NA	NA	10819331; 14702039; 12508121; 15489334; 17974005; 20213681; 23186163
14	94830103	2801	N	<DUP>	0.01	DUP	0/0	94846702	SERPINA2	TRUE	P20848	reviewed	Putative alpha-1-antitrypsin-related protein (Protease inhibitor 1-like) (Serpin A2)	SERPINA2 ARGS ATR PIL SERPINA2P	5 out of 5	TISSUE SPECIFICITY: Expressed in the liver, leukocytes and testis. Also detected in brain, colon, uterus, esophagus, spleen, trachea, kidney and lung. {ECO:0000269|PubMed:17135331, ECO:0000269|PubMed:23826168}.	NA	NA	NA	2842251; 9383284; 17135331; 23826168
14	106082684	2872	N	<DUP>	288.02	DUP	1/1	106227317	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
14	106085745	2873	N	<DUP>	0.01	DUP	0/0	106229840	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
14	106096995	2866	N	<DUP>	0.01	DUP	0/0	106115786	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
14	106102911	2870	N	<DUP>	0.03	DUP	0/0	106198586	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
14	106112754	2874	N	<DEL>	102.47	DEL	0/1	106326611	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
14	106330069	2879	N	<DEL>	0.83	DEL	0/0	106805206	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
14	106330459	2875	N	<DEL>	1.02	DEL	0/0	106377100	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
14	106330845	2878	N	<DEL>	1.52	DEL	0/0	106552286	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
14	106932640	2885	N	<DEL>	204.41	DEL	0/1	107174927	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
15	76075367	2965	N	<DUP>	49.5	DUP	0/1	79027223	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
15	100686979	2989	N	<DEL>	1.3	DEL	0/0	100693180	ADAMTS17	TRUE	Q8TE56	reviewed	A disintegrin and metalloproteinase with thrombospondin motifs 17 (ADAM-TS 17) (ADAM-TS17) (ADAMTS-17) (EC 3.4.24.-)	ADAMTS17	5 out of 5	TISSUE SPECIFICITY: Isoform 1 and isoform 2 are expressed at high levels in the lung, brain, whole eye and retina. Isoform 1 shows a weaker expression in the heart, kidney and skeletal muscle. Isoform 2 shows a weaker expression in the kidney, bone marrow and skeletal muscle. Isoform 1 and isoform 2 are expressed at high levels in the fetal heart, kidney, and whole eye, whereas a weak expression is seen in the fetal liver. {ECO:0000269|PubMed:19836009}.	NA	DISEASE: Weill-Marchesani-like syndrome (WMLS) [MIM:613195]: A disorder characterized by many of the key features of Weill-Marchesani syndrome, including lenticular myopia, ectopia lentis, glaucoma, spherophakia and short stature. However, the characteristic brachydactyly or decreased joint flexibility of Weill-Marchesani syndrome are absent. {ECO:0000269|PubMed:19836009}. Note=The disease is caused by mutations affecting the gene represented in this entry.	363992;	11867212; 14702039; 16572171; 19836009
16	28481984	3015	N	<DUP>	0.28	DUP	0/0	29408995	CLN3	TRUE	Q13286	reviewed	Battenin (Batten disease protein) (Protein CLN3)	CLN3 BTS	5 out of 5	NA	action potential [GO:0001508]; amyloid precursor protein catabolic process [GO:0042987]; arginine transport [GO:0015809]; associative learning [GO:0008306]; autophagosome maturation [GO:0097352]; cellular amino acid metabolic process [GO:0006520]; ceramide metabolic process [GO:0006672]; galactosylceramide metabolic process [GO:0006681]; globoside metabolic process [GO:0001575]; glucosylceramide metabolic process [GO:0006678]; ionotropic glutamate receptor signaling pathway [GO:0035235]; lysosomal lumen acidification [GO:0007042]; lysosomal lumen pH elevation [GO:0035752]; lysosome organization [GO:0007040]; macroautophagy [GO:0016236]; membrane organization [GO:0061024]; negative regulation of apoptotic process [GO:0043066]; negative regulation of catalytic activity [GO:0043086]; negative regulation of macroautophagy [GO:0016242]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of proteolysis [GO:0045861]; neuromuscular process controlling balance [GO:0050885]; neurotransmitter metabolic process [GO:0042133]; protein catabolic process [GO:0030163]; protein processing [GO:0016485]; receptor-mediated endocytosis [GO:0006898]; regulation of cytosolic calcium ion concentration [GO:0051480]; sphingomyelin metabolic process [GO:0006684]; vacuolar transport [GO:0007034]; vesicle transport along microtubule [GO:0047496]	DISEASE: Ceroid lipofuscinosis, neuronal, 3 (CLN3) [MIM:204200]: A form of neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The hallmark of CLN3 is the ultrastructural pattern of lipopigment with a fingerprint profile, which can have 3 different appearances: pure within a lysosomal residual body; in conjunction with curvilinear or rectilinear profiles; and as a small component within large membrane-bound lysosomal vacuoles. The combination of fingerprint profiles within lysosomal vacuoles is a regular feature of blood lymphocytes from patients with neuronal ceroid lipofuscinosis type 3. {ECO:0000269|PubMed:21990111, ECO:0000269|PubMed:9311735, ECO:0000269|PubMed:9490299}. Note=The disease is caused by mutations affecting the gene represented in this entry.	228346;	7553855; 9119403; 14702039; 10493829; 15616553; 15489334; 10191115; 14759258; 17081983; 17286803; 17897319; 18691976; 18669648; 19690332; 20068231; 21406692; 22261744; 23186163; 25051496; 25944712; 9311735; 9490299; 21990111
18	10364211	3263	N	<DUP>	78.29	DUP	0/1	71255464	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
18	65038080	3252	N	<DUP>	0.01	DUP	0/0	65598611	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
19	4512467	3289	N	<DEL>	37.21	DEL	0/1	4512742	PLIN4	TRUE	Q96Q06	reviewed	Perilipin-4 (Adipocyte protein S3-12)	PLIN4 KIAA1881	5 out of 5	NA	NA	NA	NA	15057824; 11572484; 15111493; 24275569
19	9006778	3301	N	<DUP>	25.7	DUP	0/1	9021171	MUC16	TRUE	Q8WXI7	reviewed	Mucin-16 (MUC-16) (Ovarian cancer-related tumor marker CA125) (CA-125) (Ovarian carcinoma antigen CA125)	MUC16 CA125	5 out of 5	TISSUE SPECIFICITY: Expressed in corneal and conjunctival epithelia (at protein level). Overexpressed in ovarian carcinomas and ovarian low malignant potential (LMP) tumors as compared to the expression in normal ovarian tissue and ovarian adenomas. {ECO:0000269|PubMed:11369781, ECO:0000269|PubMed:12218296, ECO:0000269|PubMed:16384952}.	cell adhesion [GO:0007155]; O-glycan processing [GO:0016266]	NA	NA	15057824; 12218296; 11786729; 11369781; 14702039; 9276028; 12734200; 14676194; 15788735; 16384952
19	9007240	3299	N	<DUP>	49.21	DUP	0/1	9010341	MUC16	TRUE	Q8WXI7	reviewed	Mucin-16 (MUC-16) (Ovarian cancer-related tumor marker CA125) (CA-125) (Ovarian carcinoma antigen CA125)	MUC16 CA125	5 out of 5	TISSUE SPECIFICITY: Expressed in corneal and conjunctival epithelia (at protein level). Overexpressed in ovarian carcinomas and ovarian low malignant potential (LMP) tumors as compared to the expression in normal ovarian tissue and ovarian adenomas. {ECO:0000269|PubMed:11369781, ECO:0000269|PubMed:12218296, ECO:0000269|PubMed:16384952}.	cell adhesion [GO:0007155]; O-glycan processing [GO:0016266]	NA	NA	15057824; 12218296; 11786729; 11369781; 14702039; 9276028; 12734200; 14676194; 15788735; 16384952
19	9007240	3299	N	<DUP>	49.21	DUP	0/1	9010341	MUC16	TRUE	Q8WXI7	reviewed	Mucin-16 (MUC-16) (Ovarian cancer-related tumor marker CA125) (CA-125) (Ovarian carcinoma antigen CA125)	MUC16 CA125	5 out of 5	TISSUE SPECIFICITY: Expressed in corneal and conjunctival epithelia (at protein level). Overexpressed in ovarian carcinomas and ovarian low malignant potential (LMP) tumors as compared to the expression in normal ovarian tissue and ovarian adenomas. {ECO:0000269|PubMed:11369781, ECO:0000269|PubMed:12218296, ECO:0000269|PubMed:16384952}.	cell adhesion [GO:0007155]; O-glycan processing [GO:0016266]	NA	NA	15057824; 12218296; 11786729; 11369781; 14702039; 9276028; 12734200; 14676194; 15788735; 16384952
19	19258022	3324	N	<DEL>	153.44	DEL	0/1	19258292	BORCS8-MEF2B	FALSE	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
19	20585170	3369	N	<DUP>	128.28	DUP	1/1	42150239	ZNF826P	TRUE	Q6ZT77	reviewed	Putative zinc finger protein 826	ZNF826P ZNF826	3 out of 5	NA	regulation of transcription, DNA-templated [GO:0006355]; transcription, DNA-templated [GO:0006351]	NA	NA	14702039; 15057824
19	21756858	3339	N	<DEL>	85.21	DEL	0/1	21954142	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
19	21778292	3340	N	<DEL>	219.78	DEL	0/1	22618252	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
19	23481948	3355	N	<DUP>	0.07	DUP	0/0	28310232	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
19	23505743	3342	N	<DEL>	0.02	DEL	0/0	23648700	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
19	23505743	3342	N	<DEL>	0.02	DEL	0/0	23648700	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
19	50094613	3377	N	<DEL>	63.37	DEL	0/1	50094954	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
19	53186786	3392	N	<DUP>	0.03	DUP	0/0	53482106	ZNF83	TRUE	P51522	reviewed	Zinc finger protein 83 (Zinc finger protein 816B) (Zinc finger protein HPF1)	ZNF83 ZNF816B	4 out of 5	NA	regulation of transcription, DNA-templated [GO:0006355]; transcription, DNA-templated [GO:0006351]	NA	NA	14702039; 15057824; 15489334; 2505992
19	53353040	3390	N	<DEL>	0.01	DEL	0/0	53391852	ZNF468	TRUE	Q5VIY5	reviewed	Zinc finger protein 468	ZNF468	3 out of 5	TISSUE SPECIFICITY: Isoform 1 and isoform 2 are highly expressed in placenta, pancreas, and small intestine. Lower expression in colon, ovary, testis, prostate, thymus, spleen, kidney, and liver. No expression detected in heart and brain. {ECO:0000269|PubMed:16144304}.	regulation of transcription, DNA-templated [GO:0006355]; transcription, DNA-templated [GO:0006351]	NA	NA	16144304; 17974005; 15057824; 
19	54555553	3398	N	<DEL>	95.2	DEL	0/1	54560642	VSTM1	TRUE	Q6UX27	reviewed	V-set and transmembrane domain-containing protein 1 (Signal inhibitory receptor on leukocytes-1) (SIRL-1)	VSTM1 UNQ3033/PRO9835	5 out of 5	TISSUE SPECIFICITY: Expressed on myeloid (neutrophils, eosinophils and monocytes) but not on lymphoid cells. {ECO:0000269|PubMed:20375307}.	immune system process [GO:0002376]	NA	NA	22960280; 20375307; 12975309; 15057824; 15489334; 15340161
19	58868116	3409	N	<DEL>	71.46	DEL	0/1	58868517	ZNF497	TRUE	Q6ZNH5	reviewed	Zinc finger protein 497	ZNF497	3 out of 5	NA	regulation of transcription, DNA-templated [GO:0006355]; transcription, DNA-templated [GO:0006351]	NA	NA	14702039; 15489334; 
22	24274144	3526	N	<DEL>	98.7	DEL	0/1	24311297	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
X	52886720	3618	N	<DUP>	542.05	DUP	1/1	55678959	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
X	52891991	3619	N	<DEL>	41.8	DEL	0/1	55678954	XAGE3	TRUE	Q8WTP9	reviewed	X antigen family member 3 (XAGE-3) (Cancer/testis antigen 12.3) (CT12.3) (G antigen family D member 4) (Placenta-specific gene 6 protein)	XAGE3 GAGED4 PLAC6 PP9012	2 out of 5	NA	NA	NA	NA	11992404; 15498874; 15772651; 15489334
X	84823171	3670	N	<DUP>	201.8	DUP	0/1	134416873	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
X	109694233	3657	N	<DEL>	30.74	DEL	0/1	109694530	RGAG1	TRUE	Q8NET4	reviewed	Retrotransposon gag domain-containing protein 1 (Tumor antigen BJ-HCC-23)	RGAG1 KIAA1318	2 out of 5	NA	NA	NA	NA	10718198; 15489334; 18669648
X	134988343	3672	N	<DUP>	37.45	DUP	0/1	134988765	SAGE1	TRUE	Q9NXZ1	reviewed	Sarcoma antigen 1 (Cancer/testis antigen 14) (CT14)	SAGE1 SAGE	2 out of 5	TISSUE SPECIFICITY: Expressed mainly in bladder, lung, head and neck carcinomas. Not expressed in normal tissues except for testis. {ECO:0000269|PubMed:10919659}.	NA	NA	NA	10919659; 15772651; 18669648; 23186163
