P28482	MAPK1	Mitogen-activated protein kinase 1	TOPMed	rs1378179068		22q11.22	22	21867433	G	T	A	E	3	3		missense	0.918	probably damaging	0.59	tolerated - low confidence	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	TOPMed	rs1282708145		22q11.22	22	21867427	G	C	A	G	5	5		missense	0.0	benign	0.37	tolerated, tolerated - low confidence	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	TOPMed	rs1282708145		22q11.22	22	21867427	G	A	A	V	5	5		missense	0.009	benign	0.115	tolerated, tolerated - low confidence	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	TOPMed	rs977423767		22q11.22	22	21867410	G	C	P	A	11	11		missense	0.001	benign	0.21	tolerated	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	TOPMed	rs1165567498		22q11.22	22	21867409	G	A	P	L	11	11		missense	0.001	benign	0.09	tolerated	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	TOPMed	rs1349430059		22q11.22	22	21867401	C	T	V	I	14	14		missense	0.005	benign	0.28	tolerated	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	gnomAD	rs1213398032		22q11.22	22	21867395	C	A	G	W	16	16		missense	0.984	probably damaging	0.0	deleterious	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	TOPMed	rs1333567613		22q11.22	22	21867392	G	T	Q	K	17	17		missense	0.066	benign	0.47	tolerated	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	ExAC,TOPMed,gnomAD	rs768479151		22q11.22	22	21867389	C	A	V	L	18	18		missense	0.0	benign	1.0	tolerated	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	ExAC,TOPMed,gnomAD	rs768479151		22q11.22	22	21867389	C	G	V	L	18	18		missense	0.0	benign	1.0	tolerated	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	gnomAD	rs1293681277		22q11.22	22	21867365	T	C	T	A	26	26		missense	0.0	benign	0.47	tolerated	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	ExAC	rs758481470		22q11.22	22	21807839	A	T	Y	N	43	43		missense	0.005	benign	0.18	tolerated	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	ExAC,TOPMed,gnomAD	rs779189994		22q11.22	22	21807836	C	T	D	N	44	44		missense	0.999	probably damaging	0.6	tolerated	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	ExAC,TOPMed,gnomAD	rs779189994		22q11.22	22	21807836	C	A	D	Y	44	44		missense	1.0	probably damaging	0.03	deleterious	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	TOPMed	rs1008537544		22q11.22	22	21807832	T	C	N	S	45	45		missense	0.026	benign	0.77	tolerated	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	ExAC,gnomAD	rs755253671		22q11.22	22	21807827	T	C	N	D	47	47		missense	0.07	benign	0.01	deleterious	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	ExAC,gnomAD	rs754193785		22q11.22	22	21807817	C	T	R	Q	50	50		missense	0.783	possibly damaging	0.08	tolerated	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	TOPMed	rs1459279170		22q11.22	22	21807784	T	G	H	P	61	61		missense	0.998	probably damaging	0.0	deleterious	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	ExAC	rs756644901		22q11.22	22	21807773	A	T	C	S	65	65		missense	0.318	benign	0.08	tolerated	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	TOPMed	rs1035981670		22q11.22	22	21807752	T	C	I	V	72	72		missense	0.227	benign	0.04	deleterious	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	ExAC,TOPMed,gnomAD	rs761386086		22q11.22	22	21807740	G	C	L	V	76	76		missense	0.08	benign	0.06	tolerated	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	gnomAD	rs1330050442		22q11.22	22	21807737	G	C	R	G	77	77		missense	0.081	benign	0.02	deleterious	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	TOPMed	rs1163552201		22q11.22	22	21807706	T	C	N	S	87	87		missense	0.001	benign	0.42	tolerated	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	1000Genomes,ESP,ExAC,TOPMed,gnomAD	rs202041676		22q11.22	22	21807686	T	C	T	A	94	94	5.99E-4	missense	0.007	benign	0.15	tolerated	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	1000Genomes,ESP,ExAC,TOPMed,gnomAD	rs141978504		22q11.22	22	21807685	G	A	T	I	94	94	3.99E-4	missense	0.264	benign	0.04	deleterious	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	gnomAD	rs1396992418		22q11.22	22	21807683	T	C	I	V	95	95		missense	0.0	benign	0.39	tolerated	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	1000Genomes,ExAC,gnomAD	rs530183395		22q11.22	22	21807680	C	T	E	K	96	96	2.0E-4	missense	0.3935	benign, possibly damaging	0.025	deleterious	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	1000Genomes,ExAC,gnomAD	rs530183395		22q11.22	22	21807680	C	G	E	Q	96	96	2.0E-4	missense	0.158	benign	0.09	tolerated	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	ESP,ExAC,TOPMed,gnomAD	rs146182599		22q11.22	22	21807675	T	G	Q	H	97	97		missense	0.139	benign	0.13	tolerated	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	ESP,ExAC,gnomAD	rs368100872		22q11.22	22	21806025	T	C	D	G	106	106		missense	0.007	benign	0.04	deleterious	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	TOPMed,gnomAD	rs1284302844		22q11.22	22	21806003	G	C	Y	*	113	113		stop gained					0						
P28482	MAPK1	Mitogen-activated protein kinase 1	TOPMed	rs1234816629		22q11.22	22	21805960	A	G	Y	H	128	128		missense	0.998	probably damaging	0.0	deleterious	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	gnomAD	rs1453621955		22q11.22	22	21805945	T	C	I	V	133	133		missense	0.361	benign	0.12	tolerated	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	Ensembl,dbSNP	rs797044892		22q11.22	22	21805938	C	G	R	T	135	135		missense	0.999	probably damaging	0.0	deleterious	0	Inborn genetic diseases				pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25560141,pubmed:25626707,pubmed:25730230,ClinVar:RCV000190714	
P28482	MAPK1	Mitogen-activated protein kinase 1	ExAC,TOPMed,gnomAD	rs749425404		22q11.22	22	21805899	C	T	R	H	148	148		missense	1.0	probably damaging	0.0	deleterious	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	TOPMed	rs1166008722		22q11.22	22	21805873	G	A	L	F	157	157		missense	0.858	possibly damaging	0.0	deleterious	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	gnomAD	rs1209985542		22q11.22	22	21805855	G	C	L	V	163	163		missense	1.0	probably damaging	0.0	deleterious	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	ExAC,gnomAD	rs746109073		22q11.22	22	21799092	C	T	D	N	177	177		missense	0.001	benign	0.29	tolerated	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	TOPMed	rs1282657018		22q11.22	22	21799082	T	A	H	L	180	180		missense	0.139	benign	0.05	tolerated	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	TOPMed	rs1210556853		22q11.22	22	21799056	C	T	A	T	189	189		missense	0.991	probably damaging	0.02	deleterious	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	gnomAD	rs1347722713		22q11.22	22	21799040	C	G	R	T	194	194		missense	1.0	probably damaging	0.0	deleterious	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	gnomAD	rs1334266592		22q11.22	22	21799013	T	C	K	R	203	203		missense	0.39	benign, possibly damaging	0.125	tolerated	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	ExAC,gnomAD	rs757159464		22q11.22	22	21788786	A	G	I	T	211	211		missense	0.5	benign, possibly damaging	0.01	deleterious	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	ExAC,gnomAD	rs751520333		22q11.22	22	21788750	G	C	S	C	223	223		missense	0.9055	possibly damaging, probably damaging	0.0	deleterious	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	TOPMed	rs1387475446		22q11.22	22	21788726	T	C	K	R	231	231		missense	0.168	benign	0.52	tolerated	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	TOPMed,gnomAD	rs1019839970		22q11.22	22	21788363	T	G	E	D	250	250		missense	0.001	benign	0.49	tolerated	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	ExAC,gnomAD	rs757106100		22q11.22	22	21788359	G	T	L	M	252	252		missense	0.712	possibly damaging	0.03	deleterious	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	ExAC,gnomAD	rs751468991		22q11.22	22	21788355	T	C	N	S	253	253		missense	0.001	benign	0.75	tolerated	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	ESP,TOPMed,gnomAD	rs375334289		22q11.22	22	21788350	T	C	I	V	255	255		missense	0.161	benign	0.13	tolerated	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	ExAC,gnomAD	rs758368449		22q11.22	22	21788341	A	T	L	I	258	258		missense	0.001	benign	0.1	tolerated	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	TOPMed	rs1398062479		22q11.22	22	21788302	T	C	N	D	271	271		missense	0.0	benign	0.16	tolerated	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	ExAC,gnomAD	rs767782641		22q11.22	22	21788275	G	C	P	A	280	280		missense	0.013	benign	0.01	deleterious	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	ExAC,gnomAD	rs767782641		22q11.22	22	21788275	G	A	P	S	280	280		missense	0.021	benign	0.05	deleterious	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	ExAC,gnomAD	rs762158416		22q11.22	22	21788263	A	G	S	P	284	284		missense	0.0	benign	1.0	tolerated	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	TOPMed	rs1368414854		22q11.22	22	21788258	T	A	K	N	285	285		missense	0.03	benign	0.49	tolerated	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	ESP,ExAC,TOPMed,gnomAD	rs147414870		22q11.22	22	21772971	A	C	L	V	290	290		missense	0.5605	benign, possibly damaging	0.125	tolerated	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	ESP	rs142890870		22q11.22	22	21772965	T	G	K	Q	292	292		missense	0.022	benign	0.07	tolerated	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	gnomAD	rs1289443802		22q11.22	22	21772949	T	C	N	S	297	297		missense	0.227	benign	0.16	tolerated	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	TOPMed	rs1406012731		22q11.22	22	21772947	G	C	P	A	298	298		missense	0.91	probably damaging	0.01	deleterious	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	gnomAD	rs1156690178		22q11.22	22	21772944	G	T	H	N	299	299		missense	0.0	benign	1.0	tolerated	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	gnomAD	rs1412049449		22q11.22	22	21772940	T	C	K	R	300	300		missense	0.021	benign	0.19	tolerated	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	ExAC,gnomAD	rs776295601		22q11.22	22	21772934	A	G	I	T	302	302		missense	0.995	probably damaging	0.0	deleterious	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	gnomAD	rs1400349762		22q11.22	22	21772913	G	C	A	G	309	309		missense	0.033	benign	0.05	tolerated	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	gnomAD	rs1156943906		22q11.22	22	21772914	C	T	A	T	309	309		missense	0.5865	possibly damaging	0.05	deleterious, tolerated	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	gnomAD	rs1159689278		22q11.22	22	21772889	T	C	Y	C	317	317		missense	0.071	benign	0.02	deleterious	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	Ensembl,dbSNP	rs1057519911	COSM461148	22q11.22	22	21772875	C	T	E	K	322	322		missense	0.95	possibly damaging, probably damaging	0.0	deleterious	1	Uterine cervical neoplasms		MIM:275355		ClinVar:RCV000433293,ClinVar:RCV000424324	
P28482	MAPK1	Mitogen-activated protein kinase 1	1000Genomes,ExAC,TOPMed,gnomAD	rs554673521		22q11.22	22	21769314	C	T	A	T	325	325	2.0E-4	missense	0.089	benign	0.03	deleterious	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	ExAC,gnomAD	rs749195559		22q11.22	22	21769308	C	A	A	S	327	327		missense	0.0	benign	0.6	tolerated	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	gnomAD	rs1265234526		22q11.22	22	21769305	G	A	P	S	328	328		missense	0.979	probably damaging	0.04	deleterious	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	ExAC,NCI-TCGA,gnomAD	rs747124623		22q11.22	22	21769293	C	T	D	N	332	332		missense	0.003	benign	0.03	deleterious	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	gnomAD	rs1438987796		22q11.22	22	21769239	C	T	E	K	350	350		missense	0.683	possibly damaging	0.0	deleterious	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	gnomAD	rs1390282714		22q11.22	22	21769233	C	A	A	S	352	352		missense	0.0	benign	0.39	tolerated	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	gnomAD	rs1390282714		22q11.22	22	21769233	C	T	A	T	352	352		missense	0.0	benign	0.36	tolerated	0						
P28482	MAPK1	Mitogen-activated protein kinase 1	ExAC,gnomAD	rs755433157		22q11.22	22	21769223	T	A	Q	L	355	355		missense	0.071	benign	0.05	deleterious	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	TOPMed	rs1378179068		22q11.22	22	21867433	G	T	A	E	3	3		missense	0.918	probably damaging	0.59	tolerated - low confidence	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	TOPMed	rs1282708145		22q11.22	22	21867427	G	C	A	G	5	5		missense	0.0	benign	0.37	tolerated, tolerated - low confidence	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	TOPMed	rs1282708145		22q11.22	22	21867427	G	A	A	V	5	5		missense	0.009	benign	0.115	tolerated, tolerated - low confidence	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	TOPMed	rs977423767		22q11.22	22	21867410	G	C	P	A	11	11		missense	0.001	benign	0.21	tolerated	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	TOPMed	rs1165567498		22q11.22	22	21867409	G	A	P	L	11	11		missense	0.001	benign	0.09	tolerated	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	TOPMed	rs1349430059		22q11.22	22	21867401	C	T	V	I	14	14		missense	0.005	benign	0.28	tolerated	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	gnomAD	rs1213398032		22q11.22	22	21867395	C	A	G	W	16	16		missense	0.984	probably damaging	0.0	deleterious	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	TOPMed	rs1333567613		22q11.22	22	21867392	G	T	Q	K	17	17		missense	0.066	benign	0.47	tolerated	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	ExAC,TOPMed,gnomAD	rs768479151		22q11.22	22	21867389	C	G	V	L	18	18		missense	0.0	benign	1.0	tolerated	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	ExAC,TOPMed,gnomAD	rs768479151		22q11.22	22	21867389	C	A	V	L	18	18		missense	0.0	benign	1.0	tolerated	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	gnomAD	rs1293681277		22q11.22	22	21867365	T	C	T	A	26	26		missense	0.0	benign	0.47	tolerated	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	ExAC	rs758481470		22q11.22	22	21807839	A	T	Y	N	43	43		missense	0.005	benign	0.18	tolerated	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	ExAC,TOPMed,gnomAD	rs779189994		22q11.22	22	21807836	C	T	D	N	44	44		missense	0.999	probably damaging	0.6	tolerated	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	ExAC,TOPMed,gnomAD	rs779189994		22q11.22	22	21807836	C	A	D	Y	44	44		missense	1.0	probably damaging	0.03	deleterious	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	TOPMed	rs1008537544		22q11.22	22	21807832	T	C	N	S	45	45		missense	0.026	benign	0.77	tolerated	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	ExAC,gnomAD	rs755253671		22q11.22	22	21807827	T	C	N	D	47	47		missense	0.07	benign	0.01	deleterious	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	ExAC,gnomAD	rs754193785		22q11.22	22	21807817	C	T	R	Q	50	50		missense	0.783	possibly damaging	0.08	tolerated	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	TOPMed	rs1459279170		22q11.22	22	21807784	T	G	H	P	61	61		missense	0.998	probably damaging	0.0	deleterious	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	ExAC	rs756644901		22q11.22	22	21807773	A	T	C	S	65	65		missense	0.318	benign	0.08	tolerated	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	TOPMed	rs1035981670		22q11.22	22	21807752	T	C	I	V	72	72		missense	0.227	benign	0.04	deleterious	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	ExAC,TOPMed,gnomAD	rs761386086		22q11.22	22	21807740	G	C	L	V	76	76		missense	0.08	benign	0.06	tolerated	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	gnomAD	rs1330050442		22q11.22	22	21807737	G	C	R	G	77	77		missense	0.081	benign	0.02	deleterious	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	TOPMed	rs1163552201		22q11.22	22	21807706	T	C	N	S	87	87		missense	0.001	benign	0.42	tolerated	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	1000Genomes,ESP,ExAC,TOPMed,gnomAD	rs202041676		22q11.22	22	21807686	T	C	T	A	94	94	5.99E-4	missense	0.007	benign	0.15	tolerated	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	1000Genomes,ESP,ExAC,TOPMed,gnomAD	rs141978504		22q11.22	22	21807685	G	A	T	I	94	94	3.99E-4	missense	0.264	benign	0.04	deleterious	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	gnomAD	rs1396992418		22q11.22	22	21807683	T	C	I	V	95	95		missense	0.0	benign	0.39	tolerated	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	1000Genomes,ExAC,gnomAD	rs530183395		22q11.22	22	21807680	C	T	E	K	96	96	2.0E-4	missense	0.3935	benign, possibly damaging	0.025	deleterious	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	1000Genomes,ExAC,gnomAD	rs530183395		22q11.22	22	21807680	C	G	E	Q	96	96	2.0E-4	missense	0.158	benign	0.09	tolerated	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	ESP,ExAC,TOPMed,gnomAD	rs146182599		22q11.22	22	21807675	T	G	Q	H	97	97		missense	0.139	benign	0.13	tolerated	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	ESP,ExAC,gnomAD	rs368100872		22q11.22	22	21806025	T	C	D	G	106	106		missense	0.007	benign	0.04	deleterious	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	TOPMed,gnomAD	rs1284302844		22q11.22	22	21806003	G	C	Y	*	113	113		stop gained					0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	TOPMed	rs1234816629		22q11.22	22	21805960	A	G	Y	H	128	128		missense	0.998	probably damaging	0.0	deleterious	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	gnomAD	rs1453621955		22q11.22	22	21805945	T	C	I	V	133	133		missense	0.361	benign	0.12	tolerated	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	Ensembl,dbSNP	rs797044892		22q11.22	22	21805938	C	G	R	T	135	135		missense	0.999	probably damaging	0.0	deleterious	0	Inborn genetic diseases				pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25560141,pubmed:25626707,pubmed:25730230,ClinVar:RCV000190714	
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	ExAC,TOPMed,gnomAD	rs749425404		22q11.22	22	21805899	C	T	R	H	148	148		missense	1.0	probably damaging	0.0	deleterious	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	TOPMed	rs1166008722		22q11.22	22	21805873	G	A	L	F	157	157		missense	0.858	possibly damaging	0.0	deleterious	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	gnomAD	rs1209985542		22q11.22	22	21805855	G	C	L	V	163	163		missense	1.0	probably damaging	0.0	deleterious	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	ExAC,gnomAD	rs746109073		22q11.22	22	21799092	C	T	D	N	177	177		missense	0.001	benign	0.29	tolerated	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	TOPMed	rs1282657018		22q11.22	22	21799082	T	A	H	L	180	180		missense	0.139	benign	0.05	tolerated	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	TOPMed	rs1210556853		22q11.22	22	21799056	C	T	A	T	189	189		missense	0.991	probably damaging	0.02	deleterious	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	gnomAD	rs1347722713		22q11.22	22	21799040	C	G	R	T	194	194		missense	1.0	probably damaging	0.0	deleterious	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	gnomAD	rs1334266592		22q11.22	22	21799013	T	C	K	R	203	203		missense	0.39	benign, possibly damaging	0.125	tolerated	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	ExAC,gnomAD	rs757159464		22q11.22	22	21788786	A	G	I	T	211	211		missense	0.5	benign, possibly damaging	0.01	deleterious	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	ExAC,gnomAD	rs751520333		22q11.22	22	21788750	G	C	S	C	223	223		missense	0.9055	possibly damaging, probably damaging	0.0	deleterious	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	TOPMed	rs1387475446		22q11.22	22	21788726	T	C	K	R	231	231		missense	0.168	benign	0.52	tolerated	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	ESP,ExAC,TOPMed,gnomAD	rs147414870		22q11.22	22	21772971	A	C	L	V	246	246		missense	0.5605	benign, possibly damaging	0.125	tolerated	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	ESP	rs142890870		22q11.22	22	21772965	T	G	K	Q	248	248		missense	0.022	benign	0.07	tolerated	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	gnomAD	rs1289443802		22q11.22	22	21772949	T	C	N	S	253	253		missense	0.227	benign	0.16	tolerated	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	TOPMed	rs1406012731		22q11.22	22	21772947	G	C	P	A	254	254		missense	0.91	probably damaging	0.01	deleterious	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	gnomAD	rs1156690178		22q11.22	22	21772944	G	T	H	N	255	255		missense	0.0	benign	1.0	tolerated	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	gnomAD	rs1412049449		22q11.22	22	21772940	T	C	K	R	256	256		missense	0.021	benign	0.19	tolerated	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	ExAC,gnomAD	rs776295601		22q11.22	22	21772934	A	G	I	T	258	258		missense	0.995	probably damaging	0.0	deleterious	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	gnomAD	rs1400349762		22q11.22	22	21772913	G	C	A	G	265	265		missense	0.033	benign	0.05	tolerated	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	gnomAD	rs1156943906		22q11.22	22	21772914	C	T	A	T	265	265		missense	0.5865	possibly damaging	0.05	deleterious, tolerated	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	gnomAD	rs1159689278		22q11.22	22	21772889	T	C	Y	C	273	273		missense	0.071	benign	0.02	deleterious	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	Ensembl,dbSNP	rs1057519911	COSM461148	22q11.22	22	21772875	C	T	E	K	278	278		missense	0.95	possibly damaging, probably damaging	0.0	deleterious	1	Uterine cervical neoplasms		MIM:275355		ClinVar:RCV000433293,ClinVar:RCV000424324	
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	1000Genomes,ExAC,TOPMed,gnomAD	rs554673521		22q11.22	22	21769314	C	T	A	T	281	281	2.0E-4	missense	0.089	benign	0.03	deleterious	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	ExAC,gnomAD	rs749195559		22q11.22	22	21769308	C	A	A	S	283	283		missense	0.0	benign	0.6	tolerated	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	gnomAD	rs1265234526		22q11.22	22	21769305	G	A	P	S	284	284		missense	0.979	probably damaging	0.04	deleterious	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	ExAC,NCI-TCGA,gnomAD	rs747124623		22q11.22	22	21769293	C	T	D	N	288	288		missense	0.003	benign	0.03	deleterious	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	gnomAD	rs1438987796		22q11.22	22	21769239	C	T	E	K	306	306		missense	0.683	possibly damaging	0.0	deleterious	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	gnomAD	rs1390282714		22q11.22	22	21769233	C	A	A	S	308	308		missense	0.0	benign	0.39	tolerated	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	gnomAD	rs1390282714		22q11.22	22	21769233	C	T	A	T	308	308		missense	0.0	benign	0.36	tolerated	0						
P28482-2	MAPK1	Isoform 2 of Mitogen-activated protein kinase 1	ExAC,gnomAD	rs755433157		22q11.22	22	21769223	T	A	Q	L	311	311		missense	0.071	benign	0.05	deleterious	0