##Database=<ID=cust000-Clinical_master_list.txt,Version=6.9,Acronym=FullList,Complete_name=Clinical master list,Clinical_db_genome_build=GRCh37.p13
##Database=<ID=cust002-SKD.txt,Version=15.1,Date=20150120,Acronym=SKD,Complete_name=Skeletal dysplasia,Clinical_db_genome_build=GRCh37.p13
##Database=<ID=cust003-CMMS.txt,Version=3.7,Date=20150302,Acronym=MIT,Complete_name=Mitochandrial,Clinical_db_genome_build=GRCh37.p13
##Database=<ID=cust003-CMMS.txt,Version=3.7,Date=20150302,Acronym=EP,Complete_name=Epilepsy,Clinical_db_genome_build=GRCh37.p13
##Database=<ID=cust003-CMMS.txt,Version=3.7,Date=20150302,Acronym=IEM,Complete_name=Inborn Errors of Metabolism,Clinical_db_genome_build=GRCh37.p13
##Database=<ID=cust002-OMIM.txt,Version=15.1,Date=20150203,Acronym=OMIM-141201,Complete_name=Online Mendelian Inheritance in Man of 141201,Clinical_db_genome_build=GRCh37.p13
##Database=<ID=cust004-PID.txt,Version=5.2,Date=20150130,Acronym=PID,Complete_name=Primary Immune Deficiency,Clinical_db_genome_build=GRCh37.p13
#Chromosome	Gene_start	Gene_stop	HGNC_symbol	Protein_name	Symptoms	Biochemistry	Imaging	Disease_trivial_name	Trivial_name_short	Phenotypic_disease_model	OMIM_morbid	Gene_locus	UniProt_id	Ensembl_gene_id	Ensemble_transcript_ID	Reduced_penetrance	Clinical_db_gene_annotation	Disease_associated_transcript	Ensembl_transcript_to_refseq_transcript	Gene_description
12	9220260	9268825	A2M							A2M:614036>AD|104300>AD	A2M:103950	12p13.31		ENSG00000175899			OMIM-141201,FullList		A2M:ENST00000318602>NM_000014|ENST00000404455|ENST00000462568|ENST00000467091|ENST00000472360|ENST00000495442|ENST00000495709|ENST00000497324|ENST00000539638|ENST00000542567|ENST00000543436|ENST00000545828|ENST00000546069	A2M:alpha-2-macroglobulin
22	43088127	43117304	A4GALT							A4GALT:111400|111400|111400	A4GALT:607922	22q13.2		ENSG00000128274			OMIM-141201,FullList		A4GALT:ENST00000249005>NM_017436/XM_005261643/XM_005261644|ENST00000381278>XM_005261646/XM_005261647/XM_005261648|ENST00000401850>XM_005261645|ENST00000465765|ENST00000483026	A4GALT:alpha_1_4-galactosyltransferase
12	53701240	53718648	AAAS							AAAS:231550>AR	AAAS:605378	12q13.13		ENSG00000094914			OMIM-141201,FullList		AAAS:ENST00000209873>NM_015665|ENST00000394384>NM_001173466|ENST00000546393|ENST00000546562|ENST00000546572|ENST00000547238|ENST00000547520|ENST00000547757|ENST00000547761|ENST00000548258|ENST00000548880|ENST00000548931|ENST00000549450|ENST00000549821|ENST00000549983|ENST00000550033|ENST00000550286|ENST00000551724|ENST00000552161|ENST00000552876	AAAS:achalasia__adrenocortical_insufficiency__alacrimia
15	67493371	67547533	AAGAB							AAGAB:148600>AD	AAGAB:614888	15q22-q23		ENSG00000103591			OMIM-141201,FullList		AAGAB:ENST00000261880>NM_001271886/NM_024666|ENST00000538028|ENST00000542650>NM_001271885|ENST00000558725|ENST00000560362|ENST00000561229|ENST00000561452	AAGAB:alpha-_and_gamma-adaptin_binding_protein
17	74449433	74466199	AANAT							AANAT:614163	AANAT:600950	17q25.1		ENSG00000129673			OMIM-141201,FullList		AANAT:ENST00000250615>NM_001166579|ENST00000392492>NM_001088|ENST00000585649|ENST00000587798	AANAT:aralkylamine_N-acetyltransferase
16	70286198	70323446	AARS							AARS:613287>AD	AARS:601065	16q22.1		ENSG00000090861			OMIM-141201,FullList		AARS:ENST00000261772>NM_001605/XM_005255813|ENST00000564359|ENST00000565361|ENST00000566969|ENST00000567490|ENST00000569790|ENST00000569825	AARS:alanyl-tRNA_synthetase
6	44267391	44281063	AARS2							AARS2:614096>AR|615889>AR	AARS2:612035	6p21.1		ENSG00000124608			OMIM-141201,FullList,IEM,MIT	AARS2:NM_020745.3	AARS2:ENST00000244571>NM_020745|ENST00000491573	AARS2:alanyl-tRNA_synthetase_2__mitochondrial
7	121715701	121784334	AASS							AASS:238700>AR|268700>AR	AASS:605113	7q31.32		ENSG00000008311			OMIM-141201,FullList,IEM	AASS:NM_005763.3	AASS:ENST00000358954|ENST00000393376|ENST00000417368>NM_005763|ENST00000426162|ENST00000431170|ENST00000460376|ENST00000473553	AASS:aminoadipate-semialdehyde_synthase
16	8768422	8878432	ABAT							ABAT:613163>AR	ABAT:137150	16p13.2		ENSG00000183044			OMIM-141201,FullList,IEM,EP	ABAT:NM_020686.5	ABAT:ENST00000268251>NM_020686/XM_005255154|ENST00000396600>NM_000663|ENST00000425191>NM_001127448|ENST00000561870|ENST00000562115|ENST00000563215|ENST00000563992|ENST00000564453|ENST00000564714|ENST00000565016|ENST00000565671|ENST00000566590|ENST00000567812|ENST00000568847|ENST00000569156|ENST00000569695	ABAT:4-aminobutyrate_aminotransferase
9	107543283	107690518	ABCA1							ABCA1:604091|205400>AR|143890>AD/AR	ABCA1:600046	9q31.1		ENSG00000165029			OMIM-141201,FullList		ABCA1:ENST00000374733|ENST00000374736>NM_005502|ENST00000423487|ENST00000494467	ABCA1:ATP-binding_cassette__sub-family_A_(ABC1)__member_1
2	215796266	216003151	ABCA12							ABCA12:242500>AR|601277>AR	ABCA12:607800	2q35		ENSG00000144452			OMIM-141201,FullList		ABCA12:ENST00000272895>NM_173076|ENST00000389661>NM_015657|ENST00000412081	ABCA12:ATP-binding_cassette__sub-family_A_(ABC1)__member_12
16	2325882	2390747	ABCA3							ABCA3:610921>AR	ABCA3:601615	16p13.3		ENSG00000167972			OMIM-141201,FullList		ABCA3:ENST00000301732>NM_001089/XM_005255169|ENST00000382381>XM_005255168/XM_005255169|ENST00000563623|ENST00000566200|ENST00000567910|ENST00000569062	ABCA3:ATP-binding_cassette__sub-family_A_(ABC1)__member_3
1	94458393	94586688	ABCA4							ABCA4:604116|248200>AR|248200>AR|601718|248200>AR|153800>AD/AR	ABCA4:601691	1p22.1		ENSG00000198691			OMIM-141201,FullList		ABCA4:ENST00000370225>NM_000350|ENST00000460514|ENST00000465352|ENST00000470771|ENST00000472033|ENST00000484388|ENST00000535735|ENST00000535881|ENST00000536513	ABCA4:ATP-binding_cassette__sub-family_A_(ABC1)__member_4
7	87133175	87342611	ABCB1							ABCB1:120080|612244	ABCB1:171050	7q21.12		ENSG00000085563			OMIM-141201,FullList		ABCB1:ENST00000265724>NM_000927|ENST00000416177|ENST00000475929|ENST00000476862|ENST00000482527|ENST00000483831|ENST00000488737|ENST00000491360|ENST00000496821|ENST00000543898	ABCB1:ATP-binding_cassette__sub-family_B_(MDR/TAP)__member_1
2	169779448	169887832	ABCB11							ABCB11:605479>AR|601847>AR	ABCB11:603201	2q31.1		ENSG00000073734			OMIM-141201,FullList		ABCB11:ENST00000263817>NM_003742|ENST00000439188>XM_005246930|ENST00000478354	ABCB11:ATP-binding_cassette__sub-family_B_(MDR/TAP)__member_11
7	87031013	87109751	ABCB4							ABCB4:614972>AD/AR|602347>AD/AR|600803>AD/AR	ABCB4:171060	7q21.12		ENSG00000005471			OMIM-141201,FullList		ABCB4:ENST00000265723>NM_000443/NM_018849|ENST00000358400>NM_018850|ENST00000359206|ENST00000417608|ENST00000440025|ENST00000453593|ENST00000467079|ENST00000467983|ENST00000469770|ENST00000473795|ENST00000545634	ABCB4:ATP-binding_cassette__sub-family_B_(MDR/TAP)__member_4
2	220074490	220083712	ABCB6							ABCB6:615402>AD|614497>AD|111600	ABCB6:605452	2q35		ENSG00000115657			OMIM-141201,FullList		ABCB6:ENST00000265316>NM_005689/XM_005246216|ENST00000295750|ENST00000417678|ENST00000439002>XM_005246215|ENST00000443805|ENST00000448398|ENST00000452545|ENST00000485773|ENST00000487380|ENST00000492543|ENST00000492953|ENST00000494639|ENST00000496984|ENST00000497882	ABCB6:ATP-binding_cassette__sub-family_B_(MDR/TAP)__member_6
X	74273115	74376567	ABCB7							ABCB7:301310>XR	ABCB7:300135	Xq13.3		ENSG00000131269			OMIM-141201,FullList		ABCB7:ENST00000253577>NM_001271696/NM_004299|ENST00000339447>NM_001271697/NM_001271699|ENST00000373394|ENST00000469368|ENST00000490858|ENST00000526404|ENST00000529949>NM_001271698|ENST00000534524|ENST00000534570	ABCB7:ATP-binding_cassette__sub-family_B_(MDR/TAP)__member_7
16	48200821	48281479	ABCC11							ABCC11:117800>AD|117800>AD|117800>AD	ABCC11:607040	16q12.1		ENSG00000121270			OMIM-141201,FullList		ABCC11:ENST00000353782>NM_145186/XM_005256210|ENST00000356608>XM_005256209|ENST00000394747>NM_033151|ENST00000394748>NM_032583/XM_005256208|ENST00000537808|ENST00000565329|ENST00000565487|ENST00000567385|ENST00000569172|ENST00000569991	ABCC11:ATP-binding_cassette__sub-family_C_(CFTR/MRP)__member_11
10	101542489	101611949	ABCC2							ABCC2:237500>AR	ABCC2:601107	10q24.2		ENSG00000023839			OMIM-141201,FullList		ABCC2:ENST00000370434|ENST00000370449>NM_000392|ENST00000496621	ABCC2:ATP-binding_cassette__sub-family_C_(CFTR/MRP)__member_2
16	16242785	16317379	ABCC6							ABCC6:614473>AR|264800>AR|177850>AD/AR	ABCC6:603234	16p13.11		ENSG00000091262			OMIM-141201,FullList		ABCC6:ENST00000205557>NM_001171/XM_005255311/XM_005276048|ENST00000456970>XM_005276048|ENST00000574094|ENST00000575728>NM_001079528|ENST00000576204|ENST00000576683|ENST00000577103	ABCC6:ATP-binding_cassette__sub-family_C_(CFTR/MRP)__member_6
11	17414432	17498449	ABCC8							ABCC8:125853>AD|606176>AD|610374|256450>AD/AR|240800>AD/AR	ABCC8:600509	11p15.1		ENSG00000006071			OMIM-141201,FullList,IEM		ABCC8:ENST00000302539>NM_000352/NM_001287174|ENST00000389817|ENST00000524561|ENST00000525022|ENST00000526002|ENST00000526037|ENST00000526168|ENST00000526921|ENST00000527905|ENST00000528202|ENST00000528374|ENST00000529967|ENST00000530147|ENST00000531137|ENST00000531642|ENST00000531891|ENST00000531911|ENST00000532220|ENST00000532728	ABCC8:ATP-binding_cassette__sub-family_C_(CFTR/MRP)__member_8
12	21950335	22094336	ABCC9							ABCC9:614050>AD|608569|239850>AD	ABCC9:601439	12p12.1		ENSG00000069431			OMIM-141201,SKD,FullList		ABCC9:ENST00000261200>NM_020297/XM_005253284/XM_005253285/XM_005253286/XM_005253288|ENST00000261201>NM_005691/XM_005253287|ENST00000326684|ENST00000345162|ENST00000538350|ENST00000544039	ABCC9:ATP-binding_cassette__sub-family_C_(CFTR/MRP)__member_9
X	152990323	153010216	ABCD1							ABCD1:300100>XR|300100>XR	ABCD1:300371	Xq28		ENSG00000101986			OMIM-141201,FullList,IEM	ABCD1:NM_000033.3	ABCD1:ENST00000218104>NM_000033|ENST00000370129|ENST00000443684	ABCD1:ATP-binding_cassette__sub-family_D_(ALD)__member_1
14	74752126	74769759	ABCD4							ABCD4:614857>AR	ABCD4:603214	14q24.3		ENSG00000119688			OMIM-141201,FullList,IEM	ABCD4:NM_005050.3	ABCD4:ENST00000298816>XM_005267937|ENST00000356924>NM_005050/XM_005267936/XM_005267939/XM_005267940/XM_005267941/XM_005267942/XM_005267946|ENST00000460308|ENST00000465085|ENST00000466822|ENST00000469672|ENST00000470637|ENST00000474270|ENST00000475240|ENST00000477803|ENST00000481348|ENST00000481935|ENST00000484380|ENST00000489207|ENST00000489678|ENST00000493427|ENST00000493752|ENST00000496015|ENST00000553486|ENST00000553745>XM_005267937|ENST00000553998|ENST00000554453|ENST00000555617|ENST00000555904|ENST00000556119|ENST00000556517|ENST00000556971|ENST00000557554|ENST00000557588	ABCD4:ATP-binding_cassette__sub-family_D_(ALD)__member_4
4	89011416	89152474	ABCG2							ABCG2:614490|138900>AD	ABCG2:603756	4q22.1		ENSG00000118777			OMIM-141201,FullList		ABCG2:ENST00000237612>NM_004827/XM_005263354/XM_005263355/XM_005263356|ENST00000503830|ENST00000505480|ENST00000515655>NM_001257386	ABCG2:ATP-binding_cassette__sub-family_G_(WHITE)__member_2
2	44039611	44066004	ABCG5							ABCG5:210250>AR	ABCG5:605459	2p21		ENSG00000138075			OMIM-141201,FullList		ABCG5:ENST00000260645>NM_022436/XM_005264482|ENST00000405322|ENST00000409962|ENST00000486512|ENST00000543989	ABCG5:ATP-binding_cassette__sub-family_G_(WHITE)__member_5
2	44066103	44105605	ABCG8							ABCG8:611465|210250>AR	ABCG8:605460	2p21		ENSG00000143921			OMIM-141201,FullList		ABCG8:ENST00000272286>NM_022437/XM_005264483	ABCG8:ATP-binding_cassette__sub-family_G_(WHITE)__member_8
20	25275379	25371619	ABHD12							ABHD12:612674>AR	ABHD12:613599	20p11.21		ENSG00000100997			OMIM-141201,FullList,IEM	ABHD12:NM_001042472.2	ABHD12:ENST00000339157>NM_001042472|ENST00000376542>NM_015600|ENST00000450393|ENST00000461204|ENST00000465694|ENST00000471287|ENST00000481556|ENST00000491682|ENST00000576316	ABHD12:abhydrolase_domain_containing_12
3	43731605	43775863	ABHD5							ABHD5:275630>AR	ABHD5:604780	3p21.33		ENSG00000011198			OMIM-141201,FullList,IEM	ABHD5:NM_016006.4	ABHD5:ENST00000013894|ENST00000413300|ENST00000454293|ENST00000456453|ENST00000458276>NM_016006|ENST00000463153|ENST00000486764	ABHD5:abhydrolase_domain_containing_5
9	133589333	133763062	ABL1								ABL1:189980	9q34.12		ENSG00000097007			OMIM-141201,FullList		ABL1:ENST00000318560>NM_005157/XM_005272177|ENST00000372348>NM_007313|ENST00000393293	ABL1:c-abl_oncogene_1__non-receptor_tyrosine_kinase
1	179068462	179198819	ABL2								ABL2:164690	1q25.2		ENSG00000143322			OMIM-141201,FullList		ABL2:ENST00000344730>NM_001136000/NM_005158|ENST00000367623|ENST00000392043>NM_001136001|ENST00000408940>NM_001168239/XM_005245088|ENST00000502732>NM_001168236/NM_001168237/NM_001168238/NM_007314|ENST00000504324|ENST00000504405|ENST00000507173|ENST00000508127|ENST00000509520|ENST00000511413|ENST00000512653	ABL2:c-abl_oncogene_2__non-receptor_tyrosine_kinase
9	136125788	136150617	ABO							ABO:616093	ABO:110300	9q34.2		ENSG00000175164			OMIM-141201,FullList		ABO:ENST00000453660|ENST00000538324	ABO:ABO_blood_group_(transferase_A__alpha_1-3-N-acetylgalactosaminyltransferase__transferase_B__alpha_1-3-galactosyltransferase)
17	35441923	35766909	ACACA							ACACA:613933>AR	ACACA:200350	17q12		ENSG00000132142			OMIM-141201,FullList		ACACA:ENST00000335166>NM_198838/XM_005257266/XM_005257267|ENST00000353139>NM_198834/NM_198839/XM_005257268|ENST00000360679>NM_198837|ENST00000361253|ENST00000394403|ENST00000394406>NM_198836|ENST00000413318|ENST00000416895|ENST00000451642|ENST00000456066|ENST00000456561|ENST00000586621|ENST00000586821|ENST00000587233|ENST00000587545|ENST00000587598|ENST00000587653|ENST00000587720|ENST00000588142|ENST00000589665|ENST00000590888|ENST00000591119|ENST00000591148|ENST00000592243|ENST00000592427|ENST00000593055	ACACA:acetyl-CoA_carboxylase_alpha
11	134123389	134135749	ACAD8							ACAD8:611283	ACAD8:604773	11q25		ENSG00000151498			OMIM-141201,FullList,IEM	ACAD8:NM_014384.2	ACAD8:ENST00000281182>NM_014384|ENST00000374752>XM_005271504|ENST00000524426|ENST00000524502>XM_005271501/XM_005271502/XM_005271503|ENST00000524547|ENST00000524739|ENST00000525961|ENST00000526026|ENST00000527082|ENST00000527665|ENST00000527713|ENST00000528325|ENST00000530533|ENST00000531338|ENST00000533387|ENST00000534240|ENST00000534433|ENST00000537423|ENST00000543332	ACAD8:acyl-CoA_dehydrogenase_family__member_8
3	128598439	128634910	ACAD9							ACAD9:611126>AR	ACAD9:611103	3q21.3		ENSG00000177646			OMIM-141201,FullList,IEM,MIT	ACAD9:NM_014049.4	ACAD9:ENST00000308982>NM_014049|ENST00000505192|ENST00000505602|ENST00000505867|ENST00000508971|ENST00000511227|ENST00000511325|ENST00000511526|ENST00000512801|ENST00000514336|ENST00000514643|ENST00000515429	ACAD9:acyl-CoA_dehydrogenase_family__member_9
1	76190036	76253260	ACADM							ACADM:201450>AR	ACADM:607008	1p31.1		ENSG00000117054			OMIM-141201,FullList,IEM	ACADM:NM_000016.4	ACADM:ENST00000370834>NM_001286043|ENST00000370841>NM_000016/NM_001127328/XM_005270812/XM_005270813/XM_005270814|ENST00000420607|ENST00000473018|ENST00000481374|ENST00000525808|ENST00000525881|ENST00000526129|ENST00000526196|ENST00000526930|ENST00000528016|ENST00000529059|ENST00000530953|ENST00000532207|ENST00000532509|ENST00000534146|ENST00000534334|ENST00000541113>NM_001286042/XM_005270811|ENST00000543667	ACADM:acyl-CoA_dehydrogenase__C-4_to_C-12_straight_chain
12	121163538	121177811	ACADS							ACADS:201470>AR	ACADS:606885	12q24.31		ENSG00000122971			OMIM-141201,FullList,IEM	ACADS:NM_000017.2	ACADS:ENST00000242592>NM_000017|ENST00000411593>XM_005253878|ENST00000539690	ACADS:acyl-CoA_dehydrogenase__C-2_to_C-3_short_chain
10	124768495	124817827	ACADSB							ACADSB:610006>AR	ACADSB:600301	10q26.13		ENSG00000196177			OMIM-141201,FullList,IEM	ACADSB:NM_001609.3	ACADSB:ENST00000358776>NM_001609|ENST00000368869|ENST00000411816|ENST00000496730|ENST00000541070	ACADSB:acyl-CoA_dehydrogenase__short/branched_chain
17	7120444	7128592	ACADVL							ACADVL:201475>AR	ACADVL:609575	17p13.1		ENSG00000072778			OMIM-141201,FullList,IEM	ACADVL:NM_000018.3	ACADVL:ENST00000322910|ENST00000350303>NM_001033859|ENST00000356839>NM_000018/NM_001270448|ENST00000542255|ENST00000543245>NM_001270447|ENST00000577191|ENST00000577433|ENST00000577857|ENST00000578033|ENST00000578269|ENST00000578319|ENST00000578421|ENST00000578579|ENST00000578711|ENST00000578809|ENST00000578824|ENST00000579286|ENST00000579391|ENST00000579425|ENST00000579546|ENST00000579886|ENST00000579894|ENST00000580263|ENST00000580365|ENST00000581378|ENST00000581562|ENST00000582056|ENST00000582166|ENST00000582356|ENST00000582379|ENST00000582450|ENST00000583074|ENST00000583312|ENST00000583760|ENST00000583848|ENST00000583850|ENST00000583858|ENST00000584103|ENST00000585203	ACADVL:acyl-CoA_dehydrogenase__very_long_chain
15	89346674	89418585	ACAN							ACAN:165800>AD|612813|608361>AD	ACAN:155760	15q26.1		ENSG00000157766			OMIM-141201,SKD,FullList		ACAN:ENST00000352105>NM_001135|ENST00000439576>NM_013227|ENST00000558207|ENST00000558604|ENST00000558704|ENST00000559004|ENST00000560601|ENST00000561243	ACAN:aggrecan
11	107992243	108018503	ACAT1							ACAT1:203750>AR	ACAT1:607809	11q22.3		ENSG00000075239			OMIM-141201,FullList,IEM	ACAT1:NM_000019.3	ACAT1:ENST00000265838>NM_000019|ENST00000299355|ENST00000524833|ENST00000526119|ENST00000527942|ENST00000528370|ENST00000531813|ENST00000531853|ENST00000532792|ENST00000533597|ENST00000533610|ENST00000534773	ACAT1:acetyl-CoA_acetyltransferase_1
6	160181360	160200144	ACAT2							ACAT2:614055>	ACAT2:100678	6q25.3		ENSG00000120437			OMIM-141201,FullList		ACAT2:ENST00000367048>NM_005891|ENST00000467951|ENST00000472052|ENST00000541436>XM_005266980	ACAT2:acetyl-CoA_acetyltransferase_2
17	61554422	61599205	ACE							ACE:267430>AR|104300>AD/AR|612624|614519	ACE:106180	17q23.3		ENSG00000159640			OMIM-141201,FullList		ACE:ENST00000290863>NM_152830|ENST00000290866>NM_000789|ENST00000413513>NM_001178057|ENST00000421982|ENST00000428043|ENST00000490216|ENST00000538928|ENST00000577418|ENST00000578679|ENST00000578839|ENST00000579204|ENST00000579314|ENST00000579409|ENST00000579462|ENST00000579726|ENST00000580318|ENST00000582005|ENST00000582244|ENST00000582627|ENST00000582678|ENST00000582761|ENST00000583336|ENST00000583645|ENST00000584529|ENST00000584865	ACE:angiotensin_I_converting_enzyme
17	61562184	61599209	ACE							ACE:267430>AR|104300>AD/AR|612624|614519	ACE:106180	17q23.3		ENSG00000264813			OMIM-141201,FullList		ACE:ENST00000577647	ACE:Angiotensin-converting_enzyme__Uncharacterized_protein_
7	100487615	100494594	ACHE							ACHE:112100	ACHE:100740	7q22.1		ENSG00000087085			OMIM-141201,FullList		ACHE:ENST00000241069>NM_000665|ENST00000302913>NM_015831/XM_005250357|ENST00000411582|ENST00000412389|ENST00000419336>NM_001282449/XM_005250359|ENST00000426415|ENST00000428317>XM_005250358|ENST00000430554|ENST00000440755|ENST00000441605|ENST00000442452|ENST00000445236|ENST00000454485|ENST00000497647	ACHE:acetylcholinesterase_(Yt_blood_group)
22	41865129	41924993	ACO2							ACO2:614559>AR	ACO2:100850	22q13.2		ENSG00000100412			OMIM-141201,FullList,IEM	ACO2:NM_001098.2	ACO2:ENST00000216254>NM_001098/XM_005261622|ENST00000396512>XM_005261622|ENST00000466237|ENST00000471094|ENST00000478010|ENST00000481310|ENST00000482208	ACO2:aconitase_2__mitochondrial
17	73937588	73975515	ACOX1							ACOX1:264470>AR	ACOX1:609751	17q25.1		ENSG00000161533			OMIM-141201,FullList,IEM	ACOX1:NM_004035.6	ACOX1:ENST00000293217>NM_004035|ENST00000301608>NM_007292|ENST00000537812>NM_001185039|ENST00000572047|ENST00000573078|ENST00000576743|ENST00000587927|ENST00000588176|ENST00000588968|ENST00000589301|ENST00000589744|ENST00000591857|ENST00000591963|ENST00000592329	ACOX1:acyl-CoA_oxidase_1__palmitoyl
11	47260853	47270457	ACP2							ACP2:200950>AR	ACP2:171650	11p11.2		ENSG00000134575			OMIM-141201,FullList		ACP2:ENST00000256997>NM_001610/XM_005252981/XM_005252982|ENST00000444355>NM_001131064|ENST00000524769|ENST00000525230|ENST00000527256|ENST00000529444>XM_005252983|ENST00000529663|ENST00000529788|ENST00000530453|ENST00000531004|ENST00000531547|ENST00000533929|ENST00000534448|ENST00000534752|ENST00000537863	ACP2:acid_phosphatase_2__lysosomal
19	11685475	11689823	ACP5							ACP5:607944>AD/AR	ACP5:171640	19p13.2		ENSG00000102575			OMIM-141201,SKD,FullList,PID		ACP5:ENST00000218758>NM_001111035|ENST00000412435>NM_001111036|ENST00000433365>NM_001611|ENST00000588079|ENST00000588524|ENST00000588625|ENST00000589792|ENST00000590420|ENST00000590832|ENST00000591319|ENST00000592659|ENST00000592828>NM_001111034/XM_005259938	ACP5:acid_phosphatase_5__tartrate_resistant
22	51176624	51183762	ACR							ACR:102480	ACR:102480	22q13.33		ENSG00000100312			OMIM-141201,FullList		ACR:ENST00000216139>NM_001097|ENST00000527761|ENST00000529621|ENST00000533930	ACR:acrosin
16	89154783	89222254	ACSF3							ACSF3:614265	ACSF3:614245	16q24.3		ENSG00000176715			OMIM-141201,FullList		ACSF3:ENST00000317447>NM_001127214/NM_001243279/NM_001284316/NM_174917|ENST00000378345|ENST00000393145|ENST00000406948|ENST00000535176|ENST00000537116|ENST00000537155|ENST00000537290|ENST00000537895|ENST00000538340|ENST00000540697|ENST00000541755|ENST00000542688|ENST00000543676|ENST00000544543|ENST00000562204|ENST00000562750	ACSF3:acyl-CoA_synthetase_family_member_3
X	108867473	108976632	ACSL4							ACSL4:300387	ACSL4:300157	Xq23		ENSG00000068366			OMIM-141201,FullList		ACSL4:ENST00000340800>NM_022977/XM_005262109|ENST00000348502>NM_004458/XM_005262110|ENST00000439581|ENST00000469796>XM_005262108|ENST00000469857|ENST00000502391|ENST00000504383|ENST00000504980|ENST00000505075|ENST00000505855|ENST00000508092|ENST00000514500	ACSL4:acyl-CoA_synthetase_long-chain_family_member_4
5	131142683	131347936	ACSL6								ACSL6:604443	5q31.1		ENSG00000164398			OMIM-141201,FullList		ACSL6:ENST00000296869>NM_001205247/NM_015256|ENST00000357096|ENST00000379240|ENST00000379244|ENST00000379246>NM_001205250|ENST00000379249|ENST00000379255>NM_001205251|ENST00000379264>NM_001009185|ENST00000379272|ENST00000413683|ENST00000414078|ENST00000416557|ENST00000419502|ENST00000430403|ENST00000431707|ENST00000434099|ENST00000441995|ENST00000469164|ENST00000477640|ENST00000484870|ENST00000489047|ENST00000492156|ENST00000493861|ENST00000543479>NM_001205248|ENST00000544770	ACSL6:acyl-CoA_synthetase_long-chain_family_member_6
16	20621565	20808903	ACSM3								ACSM3:145505	16p12.3		ENSG00000005187			OMIM-141201,FullList		ACSM3:ENST00000289416>NM_005622|ENST00000440284>NM_202000|ENST00000450120|ENST00000501740|ENST00000561499|ENST00000561584|ENST00000561795|ENST00000562251|ENST00000563914|ENST00000564701|ENST00000567006|ENST00000567387|ENST00000567711|ENST00000568235|ENST00000569141	ACSM3:acyl-CoA_synthetase_medium-chain_family_member_3
1	229566992	229569845	ACTA1							ACTA1:161800>AD/AR|161800>AD/AR|255310>AD/AR|161800>AD/AR	ACTA1:102610	1q42.13		ENSG00000143632			OMIM-141201,FullList		ACTA1:ENST00000366683|ENST00000366684>NM_001100	ACTA1:actin__alpha_1__skeletal_muscle
10	90694831	90751147	ACTA2							ACTA2:611788|614042|613834>AD	ACTA2:102620	10q23.31		ENSG00000107796			OMIM-141201,FullList		ACTA2:ENST00000224784>NM_001613|ENST00000415557|ENST00000458159|ENST00000458208>NM_001141945|ENST00000480297|ENST00000482085|ENST00000488967	ACTA2:actin__alpha_2__smooth_muscle__aorta
7	5566782	5603415	ACTB							ACTB:243310>AD|607371>AD	ACTB:102630	7p22.1		ENSG00000075624			OMIM-141201,FullList,PID		ACTB:ENST00000331789>NM_001101/XM_005249818/XM_005249819|ENST00000414620|ENST00000417101|ENST00000425660>XM_005249820|ENST00000432588|ENST00000443528|ENST00000462494|ENST00000464611|ENST00000473257|ENST00000477812|ENST00000480301|ENST00000484841|ENST00000493945	ACTB:actin__beta
15	35080297	35088340	ACTC1							ACTC1:612794|613424>AD|612098>AD|613424>AD	ACTC1:102540	15q14		ENSG00000159251			OMIM-141201,FullList		ACTC1:ENST00000290378>NM_005159|ENST00000557860|ENST00000560563	ACTC1:actin__alpha__cardiac_muscle_1
17	79476997	79490873	ACTG1							ACTG1:614583|604717>AD	ACTG1:102560	17q25.3		ENSG00000184009			OMIM-141201,FullList		ACTG1:ENST00000331925>NM_001614|ENST00000570382|ENST00000571691|ENST00000571721|ENST00000572105|ENST00000573283>NM_001199954|ENST00000574671|ENST00000575087|ENST00000575659|ENST00000575842|ENST00000575994|ENST00000576209|ENST00000576214|ENST00000576544|ENST00000576917	ACTG1:actin__gamma_1
2	74119441	74146992	ACTG2							ACTG2:155310>AD	ACTG2:102545	2p13.1		ENSG00000163017			OMIM-141201,FullList		ACTG2:ENST00000345517>NM_001615|ENST00000409624|ENST00000409731>NM_001199893|ENST00000409918|ENST00000429756|ENST00000438902|ENST00000442912|ENST00000468543|ENST00000473016	ACTG2:actin__gamma_2__smooth_muscle__enteric
14	69340860	69446157	ACTN1							ACTN1:615193>AD	ACTN1:102575	14q24.1		ENSG00000072110			OMIM-141201,FullList		ACTN1:ENST00000193403>NM_001102|ENST00000376839|ENST00000394419>NM_001130004|ENST00000438964>NM_001130005|ENST00000538545>XM_005268150|ENST00000544964|ENST00000553290|ENST00000553370|ENST00000553659|ENST00000553779|ENST00000553882|ENST00000554158|ENST00000554508|ENST00000555075|ENST00000555616|ENST00000556083|ENST00000556203|ENST00000556343|ENST00000556432|ENST00000556433|ENST00000556571	ACTN1:actinin__alpha_1
1	236849754	236927931	ACTN2							ACTN2:612158	ACTN2:102573	1q43		ENSG00000077522			OMIM-141201,FullList		ACTN2:ENST00000366578>NM_001103/NM_001278344|ENST00000461367|ENST00000492101|ENST00000492634|ENST00000494762|ENST00000542672>NM_001278343|ENST00000546208	ACTN2:actinin__alpha_2
11	66313866	66330800	ACTN3								ACTN3:102574	11q13.2		ENSG00000248746			OMIM-141201,FullList		ACTN3:ENST00000502692>NM_001258371|ENST00000511191|ENST00000513398>NM_001104	ACTN3:actinin__alpha_3_(gene/pseudogene)
19	39138289	39222223	ACTN4							ACTN4:603278	ACTN4:604638	19q13.2		ENSG00000130402			OMIM-141201,FullList		ACTN4:ENST00000252699>NM_004924/XM_005259281/XM_005259282/XM_005259283|ENST00000390009|ENST00000424234|ENST00000440400|ENST00000477174|ENST00000489451|ENST00000495553|ENST00000497637|ENST00000586538|ENST00000588618|ENST00000589528	ACTN4:actinin__alpha_4
2	158592958	158732374	ACVR1							ACVR1:135100>AD	ACVR1:102576	2q24.1		ENSG00000115170			OMIM-141201,SKD,FullList		ACVR1:ENST00000263640>NM_001105/XM_005246940|ENST00000409283|ENST00000410057|ENST00000412025|ENST00000413751|ENST00000424669|ENST00000434821>NM_001111067/XM_005246939|ENST00000440523|ENST00000487456|ENST00000539637	ACVR1:activin_A_receptor__type_I
12	52345451	52390862	ACVR1B								ACVR1B:601300	12q13.13		ENSG00000135503			OMIM-141201,FullList		ACVR1B:ENST00000257963>NM_004302/NM_020328|ENST00000415850|ENST00000426655|ENST00000536420|ENST00000541224|ENST00000542485>NM_020327|ENST00000563121	ACVR1B:activin_A_receptor__type_IB
3	38495342	38534633	ACVR2B							ACVR2B:613751	ACVR2B:602730	3p22.2		ENSG00000114739			OMIM-141201,FullList		ACVR2B:ENST00000352511>NM_001106/XM_005265583|ENST00000461232|ENST00000465020	ACVR2B:activin_A_receptor__type_IIB
12	52300692	52317145	ACVRL1							ACVRL1:600376>AD	ACVRL1:601284	12q13.13		ENSG00000139567			OMIM-141201,FullList		ACVRL1:ENST00000388922>NM_000020/XM_005269235|ENST00000419526|ENST00000547400|ENST00000547632|ENST00000550084|ENST00000550683>NM_001077401/XM_005269236|ENST00000551576|ENST00000552678	ACVRL1:activin_A_receptor_type_II-like_1
3	52009066	52023213	ACY1							ACY1:609924>AR	ACY1:104620	3p21.2		ENSG00000243989			OMIM-141201,FullList		ACY1:ENST00000404366>NM_000666/NM_001198895|ENST00000458031|ENST00000464587|ENST00000465121|ENST00000468068|ENST00000469863|ENST00000476351>NM_001198898|ENST00000476854>NM_001198897|ENST00000490244|ENST00000491318|ENST00000494103>NM_001198896|ENST00000496679	ACY1:aminoacylase_1
20	43248163	43280874	ADA							ADA:102700>Somatic mosaicism/AR|102700>Somatic mosaicism/AR	ADA:608958	20q13.12		ENSG00000196839			OMIM-141201,FullList,PID,IEM		ADA:ENST00000372874>NM_000022|ENST00000464097|ENST00000492931|ENST00000535573|ENST00000536076|ENST00000536532|ENST00000537820>XM_005260236|ENST00000539235|ENST00000545776	ADA:adenosine_deaminase
15	58887403	59042177	ADAM10							ADAM10:615537>AD|615590	ADAM10:602192	15q21.3		ENSG00000137845			OMIM-141201,FullList		ADAM10:ENST00000260408>NM_001110/XM_005254118|ENST00000396136|ENST00000396140|ENST00000402627|ENST00000439637|ENST00000461408|ENST00000462061|ENST00000470269|ENST00000475898|ENST00000481164|ENST00000482945|ENST00000497846|ENST00000558004|ENST00000558733|ENST00000559053|ENST00000560608|ENST00000561149|ENST00000561288	ADAM10:ADAM_metallopeptidase_domain_10
2	9628615	9695921	ADAM17							ADAM17:614328>AR	ADAM17:603639	2p25.1		ENSG00000151694			OMIM-141201,FullList		ADAM17:ENST00000310823>NM_003183|ENST00000478059|ENST00000497134	ADAM17:ADAM_metallopeptidase_domain_17
8	38854388	38962663	ADAM9							ADAM9:612775	ADAM9:602713	8p11.22		ENSG00000168615			OMIM-141201,FullList		ADAM9:ENST00000379917|ENST00000463437|ENST00000466936|ENST00000468065|ENST00000481058|ENST00000481513|ENST00000481873|ENST00000484143|ENST00000487273>NM_003816	ADAM9:ADAM_metallopeptidase_domain_9
19	8645126	8675620	ADAMTS10							ADAMTS10:277600>AR	ADAMTS10:608990	19p13.2		ENSG00000142303			OMIM-141201,FullList		ADAMTS10:ENST00000270328>XM_005272498/XM_005272499/XM_005272500/XM_005277796/XM_005277797/XM_005277798|ENST00000593534|ENST00000593826|ENST00000593913|ENST00000595838>NM_001282352/XM_005272501|ENST00000596236|ENST00000596466|ENST00000596709|ENST00000596851|ENST00000596911|ENST00000597188>NM_030957|ENST00000601163|ENST00000601872|ENST00000603221	ADAMTS10:ADAM_metallopeptidase_with_thrombospondin_type_1_motif__10
9	136279478	136324508	ADAMTS13							ADAMTS13:274150>AR	ADAMTS13:604134	9q34.2		ENSG00000160323			OMIM-141201,FullList		ADAMTS13:ENST00000355699|ENST00000356589>NM_139026|ENST00000371910|ENST00000371911|ENST00000371916|ENST00000371929>NM_139025/NM_139027|ENST00000474918|ENST00000485925|ENST00000495234|ENST00000536611	ADAMTS13:ADAM_metallopeptidase_with_thrombospondin_type_1_motif__13
15	100511794	100882210	ADAMTS17							ADAMTS17:613195>AR	ADAMTS17:607511	15q26.3		ENSG00000140470			OMIM-141201,FullList		ADAMTS17:ENST00000268070>NM_139057|ENST00000378898|ENST00000557896|ENST00000558930|ENST00000558960|ENST00000559976|ENST00000560486|ENST00000561355|ENST00000568565	ADAMTS17:ADAM_metallopeptidase_with_thrombospondin_type_1_motif__17
16	77281710	77469011	ADAMTS18							ADAMTS18:615458>AR	ADAMTS18:607512	16q23.1		ENSG00000140873			OMIM-141201,FullList		ADAMTS18:ENST00000282849>NM_199355|ENST00000449265|ENST00000562332|ENST00000562345|ENST00000564369|ENST00000567121|ENST00000567914|ENST00000568393|ENST00000569309	ADAMTS18:ADAM_metallopeptidase_with_thrombospondin_type_1_motif__18
5	178537852	178772431	ADAMTS2							ADAMTS2:225410>AR	ADAMTS2:604539	5q35.3		ENSG00000087116			OMIM-141201,FullList		ADAMTS2:ENST00000251582>NM_014244|ENST00000274609>NM_021599|ENST00000518335|ENST00000522937|ENST00000523450	ADAMTS2:ADAM_metallopeptidase_with_thrombospondin_type_1_motif__2
9	136397286	136440641	ADAMTSL2							ADAMTSL2:231050>AR	ADAMTSL2:612277	9q34.2		ENSG00000197859			OMIM-141201,SKD,FullList		ADAMTSL2:ENST00000354484>NM_001145320/XM_003846429/XM_005272238/XM_005272239|ENST00000393060>NM_014694/XM_003846429|ENST00000393061>XM_003846429/XM_005272237/XM_005272238/XM_005272239	ADAMTSL2:ADAMTS-like_2
1	150521884	150533413	ADAMTSL4							ADAMTSL4:225200>AR|225100>AR	ADAMTSL4:610113	1q21.3		ENSG00000143382			OMIM-141201,FullList		ADAMTSL4:ENST00000271643>NM_019032|ENST00000369038|ENST00000369039>NM_001288608/XM_005245269|ENST00000369041>NM_025008|ENST00000483335|ENST00000489159	ADAMTSL4:ADAMTS-like_4
1	154554538	154600475	ADAR							ADAR:615010>AR|127400>AD/AR	ADAR:146920	1q21.3		ENSG00000160710			OMIM-141201,FullList,PID,IEM,EP		ADAR:ENST00000292205>NM_001025107/NM_001193495|ENST00000368471|ENST00000368474>NM_001111/NM_015840/NM_015841|ENST00000463920|ENST00000471068|ENST00000492630|ENST00000494866|ENST00000526905|ENST00000529168|ENST00000530954|ENST00000534279	ADAR:adenosine_deaminase__RNA-specific
19	1905377	1913444	ADAT3							ADAT3:615286>AR	ADAT3:615302	19p13.3		ENSG00000213638			OMIM-141201,FullList		ADAT3:ENST00000329478>NM_138422|ENST00000454697|ENST00000602400	ADAT3:adenosine_deaminase__tRNA-specific_3
1	227085237	227175246	ADCK3							ADCK3:612016>AR	ADCK3:606980	1q42.13		ENSG00000163050			OMIM-141201,FullList,IEM,MIT	ADCK3:NM_020247.4	ADCK3:ENST00000366777>NM_020247/XM_005273201/XM_005273203/XM_005273204/XM_005273206/XM_005273207|ENST00000366778|ENST00000366779>XM_005273201/XM_005273202/XM_005273205/XM_005273206|ENST00000433743|ENST00000458507|ENST00000464693|ENST00000476488|ENST00000478406|ENST00000479852|ENST00000485462|ENST00000485677|ENST00000489044	ADCK3:aarF_domain_containing_kinase_3
19	41197434	41224112	ADCK4							ADCK4:615573>AR	ADCK4:615567	19q13.2		ENSG00000123815			OMIM-141201,FullList		ADCK4:ENST00000243583>NM_001142555|ENST00000324464>NM_024876/XM_005259271/XM_005259272/XM_005259273/XM_005259274/XM_005259275|ENST00000450541|ENST00000593544|ENST00000593723|ENST00000593724|ENST00000594084|ENST00000594490|ENST00000594720|ENST00000595254|ENST00000596357|ENST00000596455|ENST00000599643|ENST00000600080|ENST00000600707|ENST00000601304|ENST00000601451|ENST00000601967	ADCK4:aarF_domain_containing_kinase_4
7	45613739	45762715	ADCY1							ADCY1:610154>AR	ADCY1:103072	7p12.3		ENSG00000164742			OMIM-141201,FullList		ADCY1:ENST00000297323>NM_021116/XM_005249584|ENST00000432715>NM_001281768/XM_005249585|ENST00000468353	ADCY1:adenylate_cyclase_1_(brain)
1	167778625	167883453	ADCY10							ADCY10:143870>AD	ADCY10:605205	1q24.2		ENSG00000143199			OMIM-141201,FullList		ADCY10:ENST00000367848>XM_005245329|ENST00000367851>NM_018417/XM_005245330|ENST00000476818|ENST00000485964|ENST00000545172>NM_001167749	ADCY10:adenylate_cyclase_10_(soluble)
3	123001143	123168605	ADCY5							ADCY5:606703>AD	ADCY5:600293	3q21.1		ENSG00000173175			OMIM-141201,FullList		ADCY5:ENST00000309879>NM_001199642|ENST00000462833>NM_183357|ENST00000466617|ENST00000468683|ENST00000470367|ENST00000474577|ENST00000476455|ENST00000478092|ENST00000483566|ENST00000491190>XM_005247079	ADCY5:adenylate_cyclase_5
4	2845584	2931803	ADD1							ADD1:145500>Multifactorial	ADD1:102680	4p16.3		ENSG00000087274			OMIM-141201,FullList		ADD1:ENST00000264758>NM_014189|ENST00000355842>NM_001286645/XM_005247938|ENST00000374281|ENST00000398123|ENST00000398125>NM_014190/NM_176801|ENST00000398129|ENST00000446856>NM_001119|ENST00000503062|ENST00000503169|ENST00000503455|ENST00000506157|ENST00000508277|ENST00000508684|ENST00000509039|ENST00000510101|ENST00000511797|ENST00000513328|ENST00000513762|ENST00000514940|ENST00000534870|ENST00000536078|ENST00000536424|ENST00000538860|ENST00000539108|ENST00000539149|ENST00000540541|ENST00000541051|ENST00000541843	ADD1:adducin_1_(alpha)
4	100226121	100242558	ADH1B							ADH1B:103780>Multifactorial	ADH1B:103720	4q23		ENSG00000196616			OMIM-141201,FullList		ADH1B:ENST00000305046|ENST00000394887>NM_000668/NM_001286650/XM_005262730|ENST00000504498|ENST00000506651|ENST00000515694	ADH1B:alcohol_dehydrogenase_1B_(class_I)__beta_polypeptide
4	100257649	100274184	ADH1C							ADH1C:103780>Multifactorial|168600>Multifactorial	ADH1C:103730	4q23		ENSG00000248144			OMIM-141201,FullList		ADH1C:ENST00000505942|ENST00000510055|ENST00000511397|ENST00000515683>NM_000669	ADH1C:alcohol_dehydrogenase_1C_(class_I)__gamma_polypeptide
2	3501132	3523507	ADI1								ADI1:613400	2p25.3		ENSG00000182551			SKD,FullList		ADI1:ENST00000327435>NM_018269|ENST00000382093>XM_005264696|ENST00000415131	ADI1:acireductone_dioxygenase_1
