JoGo: Joint Open Genome and Omics Platform

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	chr	external
MFSD9_chr2_102709630_102741888	102726966	C C	T T	stop_gained stop_gained	HIGH	HG00099.hp2 HG02602.hp2 HG00099.hp2 HG02602.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0002 a0006c0008t0002	a0006c0008t0002g0029 a0006c0008t0002g0029	2	386	0.0052	c.306 others(3): Show c.306G>A	p.Trp others(4): Show p.Trp102*	MFSD9	ENSG00000135953.11	transcript	ENST00000258436.10	protein_coding	4/6	384/5293	306/1425	102/474	chr2	TogoVar
MGAM2_chr7_142106718_142227324	142196179	C C	T T	stop_gained stop_gained	HIGH	HG01255.hp2 HG01255.hp2	a0035 a0035	a0035c0051 a0035c0051	a0035c0051t0001 a0035c0051t0001	a0035c0051t0001g0321 a0035c0051t0001g0321	1	329	0.0030	c.437 others(4): Show c.4372C>T	p.Arg others(5): Show p.Arg1458*	MGAM2	ENSG00000257743.9	transcript	ENST00000477922.4	protein_coding	38/48	4462/7903	4372/7548	1458/2515	chr7	TogoVar
MGAT4D_chr4_140437262_140503293	140456640	C C	T T	stop_gained stop_gained	HIGH	NA18999.hp2 NA18999.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0177 a0006c0006t0001g0177	1	332	0.0030	c.957 others(3): Show c.957G>A	p.Trp others(4): Show p.Trp319*	MGAT4D	ENSG00000205301.12	transcript	ENST00000511113.6	protein_coding	9/11	1028/2370	957/1125	319/374	chr4	TogoVar
MGRN1_chr16_4619826_4695972	4657307	C C	T T	stop_gained stop_gained	HIGH	NA18977.hp2 NA18977.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0248 a0002c0009t0001g0248	1	334	0.0030	c.505 others(3): Show c.505C>T	p.Gln others(4): Show p.Gln169*	MGRN1	ENSG00000102858.13	transcript	ENST00000262370.12	protein_coding	5/17	640/3930	505/1731	169/576	chr16	TogoVar
MICAL1_chr6_109439062_109460772	109449722	G G	A A	stop_gained stop_gained	HIGH	NA19084.hp2 NA19084.hp2	a0013 a0013	a0013c0032 a0013c0032	a0013c0032t0001 a0013c0032t0001	a0013c0032t0001g0112 a0013c0032t0001g0112	1	434	0.0023	c.136 others(4): Show c.1369C>T	p.Gln others(4): Show p.Gln457*	MICAL1	ENSG00000135596.18	transcript	ENST00000358807.8	protein_coding	10/25	1466/3430	1369/3204	457/1067	chr6	TogoVar
MICAL1_chr6_109439062_109460772	109454106	G G	A A	stop_gained stop_gained	HIGH	NA18950.hp1 NA18950.hp1	a0009 a0009	a0009c0033 a0009c0033	a0009c0033t0001 a0009c0033t0001	a0009c0033t0001g0083 a0009c0033t0001g0083	1	434	0.0023	c.91C others(2): Show c.91C>T	p.Gln others(3): Show p.Gln31*	MICAL1	ENSG00000135596.18	transcript	ENST00000358807.8	protein_coding	2/25	188/3430	91/3204	31/1067	chr6	TogoVar
MICB_chr6_31493145_31516124	31505636	C C	A A	stop_gained stop_gained	HIGH	NA19077.hp1 NA19077.hp1	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0006 a0009c0016t0006	a0009c0016t0006g0193 a0009c0016t0006g0193	1	459	0.0022	c.90C others(2): Show c.90C>A	p.Tyr others(3): Show p.Tyr30*	MICB	ENSG00000204516.10	transcript	ENST00000252229.7	protein_coding	2/6	139/2416	90/1152	30/383	chr6	TogoVar
MICB_chr6_31493145_31516124	31506394	C C	T T	stop_gained stop_gained	HIGH	HG00673.hp2 HG01167.hp2 HG02056.hp2 others(6): Show HG00673.hp2 HG01167.hp2 HG02056.hp2 HG02300.hp2 NA18955.hp2 NA18969.hp2 NA19079.hp2 NA19080.hp2 NA20129.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0002 a0006c0007t0002	a0006c0007t0002g0030 a0006c0007t0002g0090 a0006c0007t0002g0091 others(4): Show a0006c0007t0002g0030 a0006c0007t0002g0090 a0006c0007t0002g0091 a0006c0007t0002g0092 a0006c0007t0002g0093 a0006c0007t0002g0097 a0006c0007t0002g0099	9	459	0.0196	c.577 others(3): Show c.577C>T	p.Arg others(4): Show p.Arg193*	MICB	ENSG00000204516.10	transcript	ENST00000252229.7	protein_coding	3/6	626/2416	577/1152	193/383	chr6	TogoVar
MICU2_chr13_21487691_21609170	21502943	T T	A A	stop_gained stop_gained	HIGH	HG01070.hp1 HG01070.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0007 a0004c0004t0003g0007	1	316	0.0032	c.916 others(3): Show c.916A>T	p.Lys others(4): Show p.Lys306*	MICU2	ENSG00000165487.14	transcript	ENST00000382374.9	protein_coding	9/12	938/1885	916/1305	306/434	chr13	TogoVar
MIIP_chr1_12014498_12037045	12022138	C C	A A	stop_gained stop_gained	HIGH	HG03209.hp2 HG03209.hp2	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0001 a0012c0012t0001	a0012c0012t0001g0023 a0012c0012t0001g0023	1	414	0.0024	c.158 others(3): Show c.158C>A	p.Ser others(3): Show p.Ser53*	MIIP	ENSG00000116691.11	transcript	ENST00000235332.6	protein_coding	3/10	295/1541	158/1167	53/388	chr1	TogoVar
MILR1_chr17_64444115_64473643	64452815	C C	T T	stop_gained stop_gained	HIGH	HG01123.hp1 HG01257.hp2 HG01123.hp1 HG01257.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0044 a0003c0003t0001g0044	2	394	0.0051	c.316 others(3): Show c.316C>T	p.Gln others(4): Show p.Gln106*	MILR1	ENSG00000271605.6	transcript	ENST00000619286.5	protein_coding	3/10	370/1448	316/1032	106/343	chr17	TogoVar
MINDY4B_chr3_150865376_150910439	150871091	C C	T T	stop_gained stop_gained	HIGH	HG01891.hp2 HG02895.hp2 HG02897.hp2 HG01891.hp2 HG02895.hp2 HG02897.hp2	a0007 a0012 a0007 a0012	a0007c0007 a0012c0011 a0007c0007 a0012c0011	a0007c0007t0005 a0012c0011t0005 a0007c0007t0005 a0012c0011t0005	a0007c0007t0005g0004 a0012c0011t0005g0016 a0007c0007t0005g0004 a0012c0011t0005g0016	3	432	0.0069	c.133 others(4): Show c.1337G>A	p.Trp others(4): Show p.Trp446*	MINDY4B	ENSG00000214237.11	transcript	ENST00000465419.7	protein_coding	12/12	1337/2052	1337/1383	446/460	chr3	TogoVar
MINDY4B_chr3_150865376_150910439	150871131	G G	A A	stop_gained stop_gained	HIGH	NA19084.hp2 NA19084.hp2	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0001 a0011c0015t0001	a0011c0015t0001g0131 a0011c0015t0001g0131	1	432	0.0023	c.129 others(4): Show c.1297C>T	p.Arg others(4): Show p.Arg433*	MINDY4B	ENSG00000214237.11	transcript	ENST00000465419.7	protein_coding	12/12	1297/2052	1297/1383	433/460	chr3	TogoVar
MKRN1_chr7_140448033_140484505	140479304	G G	T T	stop_gained stop_gained	HIGH	NA18985.hp2 NA18985.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0008 a0008c0012t0008	a0008c0012t0008g0031 a0008c0012t0008g0031	1	434	0.0023	c.41C others(2): Show c.41C>A	p.Ser others(3): Show p.Ser14*	MKRN1	ENSG00000133606.11	transcript	ENST00000255977.7	protein_coding	1/8	202/3094	41/1449	14/482	chr7	TogoVar
MLF1_chr3_158566194_158611456	158602923	C C	T T	stop_gained stop_gained	HIGH	HG02074.hp2 HG02074.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0092 a0005c0010t0001g0092	1	380	0.0026	c.730 others(3): Show c.730C>T	p.Arg others(4): Show p.Arg244*	MLF1	ENSG00000178053.21	transcript	ENST00000466246.7	protein_coding	7/8	837/2213	730/852	244/283	chr3	TogoVar
MLH3_chr14_75008775_75056467	75047993	T T	A A	stop_gained stop_gained	HIGH	NA19075.hp2 NA19075.hp2	a0014 a0014	a0014c0025 a0014c0025	a0014c0025t0008 a0014c0025t0008	a0014c0025t0008g0215 a0014c0025t0008g0215	1	262	0.0038	c.166 others(4): Show c.1663A>T	p.Lys others(4): Show p.Lys555*	MLH3	ENSG00000119684.16	transcript	ENST00000355774.7	protein_coding	2/13	1814/7820	1663/4362	555/1453	chr14	TogoVar
MMP10_chr11_102765502_102785628	102775311	G G	A A	stop_gained stop_gained	HIGH	NA18971.hp2 NA18971.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0085 a0006c0012t0001g0085	1	456	0.0022	c.943 others(3): Show c.943C>T	p.Arg others(4): Show p.Arg315*	MMP10	ENSG00000166670.10	transcript	ENST00000279441.9	protein_coding	7/10	980/1759	943/1431	315/476	chr11	TogoVar
MMP13_chr11_102937995_102960732	102954458	C C	A A	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	HG00738.hp2 HG00738.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0003 a0005c0011t0003	a0005c0011t0003g0099 a0005c0011t0003g0099	1	450	0.0022	c.511 others(3): Show c.511G>T	p.Glu others(4): Show p.Glu171*	MMP13	ENSG00000137745.13	transcript	ENST00000260302.8	protein_coding	3/10	538/2714	511/1416	171/471	chr11	TogoVar
MMP8_chr11_102706796_102729954	102713404	G G	A A	stop_gained stop_gained	HIGH	HG01069.hp2 HG01071.hp2 HG01361.hp1 HG01069.hp2 HG01071.hp2 HG01361.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0064 a0009c0012t0001g0184 a0009c0012t0001g0064 a0009c0012t0001g0184	3	458	0.0066	c.134 others(4): Show c.1348C>T	p.Gln others(4): Show p.Gln450*	MMP8	ENSG00000118113.12	transcript	ENST00000236826.8	protein_coding	10/10	1447/3055	1348/1404	450/467	chr11	TogoVar
MMP8_chr11_102706796_102729954	102721650	C C	A A	stop_gained stop_gained	HIGH	NA19058.hp1 NA19058.hp1	a0017 a0017	a0017c0026 a0017c0026	a0017c0026t0003 a0017c0026t0003	a0017c0026t0003g0161 a0017c0026t0003g0161	1	458	0.0022	c.460 others(3): Show c.460G>T	p.Gly others(4): Show p.Gly154*	MMP8	ENSG00000118113.12	transcript	ENST00000236826.8	protein_coding	3/10	559/3055	460/1404	154/467	chr11	TogoVar
MOAP1_chr14_93177199_93189897	93183930	T T	A A	stop_gained stop_gained	HIGH	NA18998.hp2 NA18998.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0009 a0005c0009t0009	a0005c0009t0009g0029 a0005c0009t0009g0029	1	435	0.0023	c.313 others(3): Show c.313A>T	p.Arg others(4): Show p.Arg105*	MOAP1	ENSG00000165943.5	transcript	ENST00000298894.5	protein_coding	3/3	676/2407	313/1056	105/351	chr14	TogoVar
MOCS3_chr20_50953818_50968929	50958910	C C	A A	stop_gained stop_gained	HIGH	HG03927.hp1 HG03927.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0000 a0004c0006t0001g0000	1	436	0.0023	c.68C others(2): Show c.68C>A	p.Ser others(3): Show p.Ser23*	MOCS3	ENSG00000124217.5	transcript	ENST00000244051.3	protein_coding	1/1	93/5112	68/1383	23/460	chr20	TogoVar
MOGAT3_chr7_101190007_101206036	101200433	A A	T T	stop_gained stop_gained	HIGH	HG00621.hp1 HG00621.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0052 a0004c0004t0001g0052	1	438	0.0023	c.192 others(3): Show c.192T>A	p.Tyr others(3): Show p.Tyr64*	MOGAT3	ENSG00000106384.12	transcript	ENST00000223114.9	protein_coding	2/7	374/2147	192/1026	64/341	chr7	TogoVar
MOK_chr14_102223836_102310164	102263549	G G	A A	stop_gained stop_gained	HIGH	HG01070.hp1 HG01071.hp2 HG01099.hp2 others(18): Show HG01070.hp1 HG01071.hp2 HG01099.hp2 HG01243.hp1 HG01346.hp1 HG02015.hp1 HG02257.hp1 HG02280.hp2 HG02572.hp1 HG02965.hp2 HG03098.hp1 HG03540.hp2 HG03579.hp2 HG03704.hp1 HG03834.hp2 HG04228.hp1 NA18952.hp1 NA18953.hp2 NA18965.hp1 NA18969.hp1 NA19091.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0003 a0003c0002t0002g0004 a0003c0002t0002g0008 others(18): Show a0003c0002t0002g0003 a0003c0002t0002g0004 a0003c0002t0002g0008 a0003c0002t0002g0009 a0003c0002t0002g0010 a0003c0002t0002g0011 a0003c0002t0002g0012 a0003c0002t0002g0013 a0003c0002t0002g0014 a0003c0002t0002g0015 a0003c0002t0002g0016 a0003c0002t0002g0017 a0003c0002t0002g0018 a0003c0002t0002g0019 a0003c0002t0002g0020 a0003c0002t0002g0021 a0003c0002t0002g0022 a0003c0002t0002g0023 a0003c0002t0002g0024 a0003c0002t0002g0025 a0003c0002t0002g0110	21	252	0.0833	c.280 others(3): Show c.280C>T	p.Arg others(3): Show p.Arg94*	MOK	ENSG00000080823.23	transcript	ENST00000361847.7	protein_coding	4/12	476/1909	280/1260	94/419	chr14	TogoVar
MPC1L_chrX_40618428_40629136	40623877	C C	G G	stop_gained stop_gained	HIGH	NA19054.hp1 NA19054.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0000 a0005c0006t0001g0000	1	330	0.0030	c.312 others(3): Show c.312C>G	p.Tyr others(4): Show p.Tyr104*	MPC1L	ENSG00000238205.4	transcript	ENST00000423387.4	protein_coding	1/1	450/709	312/411	104/136	chrX	TogoVar
MPEG1_chr11_59203510_59217927	59212421	G G	A A	stop_gained stop_gained	HIGH	NA19063.hp1 NA19063.hp1	a0011 a0011	a0011c0019 a0011c0019	a0011c0019t0001 a0011c0019t0001	a0011c0019t0001g0000 a0011c0019t0001g0000	1	418	0.0024	c.445 others(3): Show c.445C>T	p.Arg others(4): Show p.Arg149*	MPEG1	ENSG00000197629.6	transcript	ENST00000361050.4	protein_coding	1/1	507/4418	445/2151	149/716	chr11	TogoVar
MPIG6B_chr6_31718373_31731714	31724152	T T	A A	stop_gained stop_gained	HIGH	HG00544.hp2 HG00544.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0002 a0004c0007t0001g0002	1	393	0.0025	c.420 others(3): Show c.420T>A	p.Tyr others(4): Show p.Tyr140*	MPIG6B	ENSG00000204420.10	transcript	ENST00000649779.1	protein_coding	3/6	431/2377	420/726	140/241	chr6	TogoVar
MPPE1_chr18_11877622_11913317	11886922	G G	A A	stop_gained stop_gained	HIGH	HG04184.hp2 HG04184.hp2	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0009 a0008c0016t0009	a0008c0016t0009g0405 a0008c0016t0009g0405	1	456	0.0022	c.673 others(3): Show c.673C>T	p.Arg others(4): Show p.Arg225*	MPPE1	ENSG00000154889.17	transcript	ENST00000588072.6	protein_coding	7/11	989/3330	673/1191	225/396	chr18	TogoVar
MPZL2_chr11_118248416_118269297	118262936	G G	A A	stop_gained stop_gained	HIGH	NA18978.hp2 NA18995.hp2 NA18978.hp2 NA18995.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0030 a0003c0004t0001g0030	2	416	0.0048	c.220 others(3): Show c.220C>T	p.Gln others(3): Show p.Gln74*	MPZL2	ENSG00000149573.9	transcript	ENST00000278937.7	protein_coding	2/6	364/2622	220/648	74/215	chr11	TogoVar
MPZL2_chr11_118248416_118269297	118263090	C C	T T	stop_gained stop_gained	HIGH	HG03831.hp1 HG03831.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0051 a0004c0005t0001g0051	1	416	0.0024	c.66G others(2): Show c.66G>A	p.Trp others(3): Show p.Trp22*	MPZL2	ENSG00000149573.9	transcript	ENST00000278937.7	protein_coding	2/6	210/2622	66/648	22/215	chr11	TogoVar
MRC2_chr17_62622670_62698597	62692294	T T	A A	stop_gained stop_gained	HIGH	HG02897.hp2 HG02897.hp2	a0016 a0016	a0016c0029 a0016c0029	a0016c0029t0002 a0016c0029t0002	a0016c0029t0002g0016 a0016c0029t0002g0016	1	312	0.0032	c.428 others(4): Show c.4283T>A	p.Leu others(5): Show p.Leu1428*	MRC2	ENSG00000011028.14	transcript	ENST00000303375.10	protein_coding	30/30	4416/5719	4283/4440	1428/1479	chr17	TogoVar
MRGPRX3_chr11_18127571_18143488	18138046	C C	T T	stop_gained stop_gained	HIGH	HG00423.hp1 HG00621.hp2 HG00423.hp1 HG00621.hp2	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0001 a0011c0014t0001	a0011c0014t0001g0001 a0011c0014t0001g0001	2	440	0.0046	c.844 others(3): Show c.844C>T	p.Gln others(4): Show p.Gln282*	MRGPRX3	ENSG00000179826.8	transcript	ENST00000621697.2	protein_coding	2/2	1038/1480	844/969	282/322	chr11	TogoVar
MRGPRX3_chr11_18127571_18143488	18138122	G G	A A	stop_gained stop_gained	HIGH	HG00733.hp1 HG00741.hp1 HG00741.hp2 others(13): Show HG00733.hp1 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01192.hp1 HG01943.hp2 HG02055.hp1 HG02293.hp2 HG02683.hp2 NA18952.hp1 NA19090.hp2 NA20752.hp2 NA21309.hp1	a0005 a0010 a0005 a0010	a0005c0007 a0010c0012 a0005c0007 a0010c0012	a0005c0007t0002 a0010c0012t0002 a0005c0007t0002 a0010c0012t0002	a0005c0007t0002g0003 a0005c0007t0002g0025 a0005c0007t0002g0035 others(2): Show a0005c0007t0002g0003 a0005c0007t0002g0025 a0005c0007t0002g0035 a0005c0007t0002g0042 a0010c0012t0002g0003	16	440	0.0364	c.920 others(3): Show c.920G>A	p.Trp others(4): Show p.Trp307*	MRGPRX3	ENSG00000179826.8	transcript	ENST00000621697.2	protein_coding	2/2	1114/1480	920/969	307/322	chr11	TogoVar
MRNIP_chr5_179832276_179863817	179853392	G G	A A	stop_gained stop_gained	HIGH	HG01243.hp2 HG01261.hp2 HG02145.hp1 HG01243.hp2 HG01261.hp2 HG02145.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0366 a0005c0007t0001g0367 a0005c0007t0001g0368 a0005c0007t0001g0366 a0005c0007t0001g0367 a0005c0007t0001g0368	3	444	0.0068	c.112 others(3): Show c.112C>T	p.Gln others(3): Show p.Gln38*	MRNIP	ENSG00000161010.16	transcript	ENST00000292586.11	protein_coding	2/7	133/1168	112/1032	38/343	chr5	TogoVar
MROH2A_chr2_233773330_233838418	233810833	C C	T T	stop_gained stop_gained	HIGH	HG02523.hp2 NA18612.hp1 NA18948.hp2 others(5): Show HG02523.hp2 NA18612.hp1 NA18948.hp2 NA18956.hp1 NA18963.hp2 NA18994.hp1 NA19070.hp1 NA19079.hp2	a0019 a0023 a0029 a0019 a0023 a0029	a0019c0026 a0023c0143 a0023c0144 others(2): Show a0019c0026 a0023c0143 a0023c0144 a0023c0145 a0029c0054	a0019c0026t0001 a0023c0143t0001 a0023c0144t0001 others(2): Show a0019c0026t0001 a0023c0143t0001 a0023c0144t0001 a0023c0145t0001 a0029c0054t0001	a0019c0026t0001g0201 a0019c0026t0001g0203 a0019c0026t0001g0208 others(5): Show a0019c0026t0001g0201 a0019c0026t0001g0203 a0019c0026t0001g0208 a0023c0143t0001g0155 a0023c0144t0001g0204 a0023c0145t0001g0196 a0029c0054t0001g0070 a0029c0054t0001g0071	8	378	0.0212	c.248 others(4): Show c.2488C>T	p.Gln others(4): Show p.Gln830*	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	23/42	2654/5350	2488/5025	830/1674	chr2	TogoVar
MROH2A_chr2_233773330_233838418	233814642	C C	T T	stop_gained stop_gained	HIGH	HG02559.hp2 HG02922.hp1 HG02559.hp2 HG02922.hp1	a0032 a0032	a0032c0057 a0032c0057	a0032c0057t0001 a0032c0057t0001	a0032c0057t0001g0062 a0032c0057t0001g0086 a0032c0057t0001g0062 a0032c0057t0001g0086	2	378	0.0053	c.282 others(4): Show c.2821C>T	p.Gln others(4): Show p.Gln941*	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	26/42	2987/5350	2821/5025	941/1674	chr2	TogoVar
MROH2B_chr5_40993020_41076342	41061613	C C	T T	stop_gained stop_gained	HIGH	HG00280.hp2 HG00323.hp2 HG00408.hp2 others(95): Show HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00597.hp1 HG00621.hp1 HG00735.hp1 HG00741.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01928.hp2 HG01934.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02027.hp1 HG02083.hp2 HG02129.hp1 HG02135.hp1 HG02258.hp1 HG02273.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG03098.hp2 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03688.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18939.hp1 NA18941.hp1 NA18947.hp2 NA18950.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18960.hp2 NA18961.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18989.hp2 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp2 NA19005.hp1 NA19011.hp1 NA19012.hp2 NA19057.hp1 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19067.hp2 NA19076.hp2 NA19078.hp2 NA19080.hp1 NA19083.hp1 NA19084.hp1 NA19086.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0002 a0006 a0009 others(8): Show a0002 a0006 a0009 a0012 a0016 a0017 a0029 a0040 a0041 a0042 a0043	a0002c0004 a0002c0027 a0002c0029 others(17): Show a0002c0004 a0002c0027 a0002c0029 a0002c0036 a0002c0062 a0006c0005 a0006c0063 a0009c0007 a0012c0010 a0016c0012 a0017c0028 a0017c0035 a0017c0057 a0017c0064 a0029c0058 a0029c0059 a0040c0055 a0041c0056 a0042c0060 a0043c0061	a0002c0004t0002 a0002c0027t0002 a0002c0029t0002 others(17): Show a0002c0004t0002 a0002c0027t0002 a0002c0029t0002 a0002c0036t0002 a0002c0062t0002 a0006c0005t0002 a0006c0063t0002 a0009c0007t0002 a0012c0010t0002 a0016c0012t0002 a0017c0028t0002 a0017c0035t0002 a0017c0057t0002 a0017c0064t0002 a0029c0058t0002 a0029c0059t0002 a0040c0055t0002 a0041c0056t0002 a0042c0060t0002 a0043c0061t0002	a0002c0004t0002g0002 a0002c0004t0002g0004 a0002c0004t0002g0011 others(89): Show a0002c0004t0002g0002 a0002c0004t0002g0004 a0002c0004t0002g0011 a0002c0004t0002g0012 a0002c0004t0002g0022 a0002c0004t0002g0023 a0002c0004t0002g0024 a0002c0004t0002g0039 a0002c0004t0002g0043 a0002c0004t0002g0054 a0002c0004t0002g0055 a0002c0004t0002g0056 a0002c0004t0002g0060 a0002c0004t0002g0061 a0002c0004t0002g0067 a0002c0004t0002g0068 a0002c0004t0002g0069 a0002c0004t0002g0072 a0002c0004t0002g0076 a0002c0004t0002g0087 a0002c0004t0002g0093 a0002c0004t0002g0096 a0002c0004t0002g0097 a0002c0004t0002g0098 a0002c0004t0002g0099 a0002c0004t0002g0100 a0002c0027t0002g0021 a0002c0027t0002g0040 a0002c0027t0002g0041 a0002c0029t0002g0083 a0002c0029t0002g0084 a0002c0029t0002g0085 a0002c0036t0002g0079 a0002c0036t0002g0080 a0002c0062t0002g0013 a0006c0005t0002g0001 a0006c0005t0002g0003 a0006c0005t0002g0033 a0006c0005t0002g0034 a0006c0005t0002g0035 a0006c0005t0002g0036 a0006c0005t0002g0037 a0006c0005t0002g0051 a0006c0005t0002g0053 a0006c0005t0002g0058 a0006c0005t0002g0059 a0006c0005t0002g0064 a0006c0005t0002g0073 a0006c0005t0002g0074 a0006c0005t0002g0077 a0006c0063t0002g0042 a0009c0007t0002g0025 a0009c0007t0002g0026 a0009c0007t0002g0028 a0009c0007t0002g0029 a0009c0007t0002g0038 a0009c0007t0002g0052 a0009c0007t0002g0062 a0009c0007t0002g0063 a0009c0007t0002g0065 a0009c0007t0002g0066 a0009c0007t0002g0070 a0009c0007t0002g0071 a0009c0007t0002g0075 a0009c0007t0002g0082 a0012c0010t0002g0018 a0012c0010t0002g0027 a0012c0010t0002g0030 a0012c0010t0002g0031 a0012c0010t0002g0032 a0012c0010t0002g0045 a0012c0010t0002g0046 a0012c0010t0002g0047 a0016c0012t0002g0005 a0016c0012t0002g0015 a0016c0012t0002g0017 a0016c0012t0002g0086 a0016c0012t0002g0088 a0016c0012t0002g0089 a0017c0028t0002g0057 a0017c0028t0002g0078 a0017c0028t0002g0081 a0017c0035t0002g0014 a0017c0035t0002g0048 a0017c0057t0002g0094 a0017c0064t0002g0050 a0029c0058t0002g0091 a0029c0059t0002g0090 a0040c0055t0002g0044 a0041c0056t0002g0016 a0042c0060t0002g0049 a0043c0061t0002g0095	98	396	0.2475	c.572 others(3): Show c.572G>A	p.Trp others(4): Show p.Trp191*	MROH2B	ENSG00000171495.17	transcript	ENST00000399564.5	protein_coding	6/42	1062/5280	572/4758	191/1585	chr5	TogoVar
MROH6_chr8_143561192_143577772	143567877	G G	C C	stop_gained stop_gained	HIGH	NA21309.hp2 NA21309.hp2	a0017 a0017	a0017c0046 a0017c0046	a0017c0046t0018 a0017c0046t0018	a0017c0046t0018g0077 a0017c0046t0018g0077	1	437	0.0023	c.177 others(4): Show c.1776C>G	p.Tyr others(4): Show p.Tyr592*	MROH6	ENSG00000204839.9	transcript	ENST00000398882.8	protein_coding	12/14	1834/3265	1776/2160	592/719	chr8	TogoVar
MROH7_chr1_54636786_54715266	54673740	C C	T T	stop_gained stop_gained	HIGH	HG02055.hp1 HG02055.hp1	a0033 a0033	a0033c0067 a0033c0067	a0033c0067t0003 a0033c0067t0003	a0033c0067t0003g0368 a0033c0067t0003g0368	1	380	0.0026	c.173 others(4): Show c.1735C>T	p.Arg others(4): Show p.Arg579*	MROH7	ENSG00000184313.20	transcript	ENST00000421030.7	protein_coding	9/24	2027/4343	1735/3972	579/1323	chr1	TogoVar
MRO_chr18_50790130_50825016	50799355	G G	C C	stop_gained stop_gained	HIGH	NA18962.hp1 NA18970.hp1 NA18978.hp1 others(1): Show NA18962.hp1 NA18970.hp1 NA18978.hp1 NA19090.hp2	a0005 a0011 a0005 a0011	a0005c0016 a0011c0019 a0005c0016 a0011c0019	a0005c0016t0006 a0011c0019t0031 a0005c0016t0006 a0011c0019t0031	a0005c0016t0006g0273 a0005c0016t0006g0295 a0005c0016t0006g0297 others(1): Show a0005c0016t0006g0273 a0005c0016t0006g0295 a0005c0016t0006g0297 a0011c0019t0031g0073	4	430	0.0093	c.729 others(3): Show c.729C>G	p.Tyr others(4): Show p.Tyr243*	MRO	ENSG00000134042.14	transcript	ENST00000398439.8	protein_coding	8/8	975/5200	729/747	243/248	chr18	TogoVar
MRPL22_chr5_154936073_154974411	154957138	C C	T T	stop_gained stop_gained	HIGH	NA18978.hp2 NA18978.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0009 a0005c0010t0001g0009	1	358	0.0028	c.265 others(3): Show c.265C>T	p.Arg others(3): Show p.Arg89*	MRPL22	ENSG00000082515.18	transcript	ENST00000523037.6	protein_coding	5/7	303/3173	265/621	89/206	chr5	TogoVar
MRPL37_chr1_54195167_54223383	54209984	C C	T T	stop_gained stop_gained	HIGH	HG02698.hp1 HG02698.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0161 a0006c0012t0001g0161	1	432	0.0023	c.685 others(3): Show c.685C>T	p.Arg others(4): Show p.Arg229*	MRPL37	ENSG00000116221.15	transcript	ENST00000360840.9	protein_coding	4/7	762/1483	685/1272	229/423	chr1	TogoVar
MRPL9_chr1_151754647_151768496	151760110	A A	T T	stop_gained stop_gained	HIGH	NA19080.hp2 NA19080.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0029 a0008c0008t0001g0029	1	436	0.0023	c.744 others(3): Show c.744T>A	p.Tyr others(4): Show p.Tyr248*	MRPL9	ENSG00000143436.11	transcript	ENST00000368830.8	protein_coding	7/7	761/1224	744/804	248/267	chr1	TogoVar
MS4A12_chr11_60487778_60512430	60497529	C C	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(178): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03491.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18956.hp2 NA18959.hp2 NA18962.hp2 NA18965.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18972.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18986.hp1 NA18987.hp2 NA18990.hp1 NA18991.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA19000.hp2 NA19001.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp2 NA19056.hp2 NA19064.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19075.hp1 NA19078.hp1 NA19079.hp2 NA19083.hp1 NA19085.hp2 NA19240.hp1 NA19240.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0005 others(2): Show a0002c0002 a0002c0004 a0002c0005 a0002c0006 a0002c0007	a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 others(3): Show a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 a0002c0005t0002 a0002c0006t0001 a0002c0007t0002	a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0021 others(55): Show a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0021 a0002c0002t0001g0030 a0002c0002t0001g0033 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0067 a0002c0002t0001g0077 a0002c0002t0001g0079 a0002c0002t0001g0105 a0002c0002t0002g0002 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0031 a0002c0002t0002g0036 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0061 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0076 a0002c0002t0002g0078 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0088 a0002c0002t0002g0090 a0002c0004t0001g0034 a0002c0004t0001g0035 a0002c0004t0001g0062 a0002c0004t0001g0075 a0002c0004t0001g0121 a0002c0005t0002g0031 a0002c0006t0001g0004 a0002c0007t0002g0009	181	432	0.4190	c.211 others(3): Show c.211C>T	p.Gln others(3): Show p.Gln71*	MS4A12	ENSG00000071203.9	transcript	ENST00000016913.8	protein_coding	2/7	268/1167	211/804	71/267	chr11	TogoVar
MS4A14_chr11_60391459_60422756	60416931	C C	T T	stop_gained stop_gained	HIGH	HG01515.hp1 HG01515.hp1	a0011 a0011	a0011c0017 a0011c0017	a0011c0017t0001 a0011c0017t0001	a0011c0017t0001g0134 a0011c0017t0001g0134	1	428	0.0023	c.196 others(4): Show c.1963C>T	p.Gln others(4): Show p.Gln655*	MS4A14	ENSG00000166928.11	transcript	ENST00000300187.11	protein_coding	5/5	2083/2908	1963/2040	655/679	chr11	TogoVar
MS4A1_chr11_60450847_60475752	60466024	T T	A A	stop_gained stop_gained	HIGH	HG02683.hp1 HG02683.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0001 a0002c0004t0002g0001	1	446	0.0022	c.440 others(3): Show c.440T>A	p.Leu others(4): Show p.Leu147*	MS4A1	ENSG00000156738.18	transcript	ENST00000345732.9	protein_coding	6/8	818/3556	440/894	147/297	chr11	TogoVar
MSL3_chrX_11753237_11780772	11775025	T T	A A	stop_gained stop_gained	HIGH	NA19006.hp1 NA19006.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0051 a0004c0006t0003g0051	1	297	0.0034	c.151 others(4): Show c.1512T>A	p.Tyr others(4): Show p.Tyr504*	MSL3	ENSG00000005302.19	transcript	ENST00000312196.10	protein_coding	13/13	1539/2286	1512/1566	504/521	chrX	TogoVar
MSR1_chr8_16102881_16197651	16155085	G G	A A	stop_gained stop_gained	HIGH	HG00741.hp1 HG01106.hp2 HG00741.hp1 HG01106.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0002 a0005c0010t0022 a0005c0010t0002 a0005c0010t0022	a0005c0010t0002g0243 a0005c0010t0022g0242 a0005c0010t0002g0243 a0005c0010t0022g0242	2	330	0.0061	c.877 others(3): Show c.877C>T	p.Arg others(4): Show p.Arg293*	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	6/10	935/3618	877/1356	293/451	chr8	TogoVar
MSS51_chr10_73418579_73438561	73427683	G G	A A	stop_gained stop_gained	HIGH	HG03453.hp1 HG03453.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0068 a0007c0011t0001g0068	1	316	0.0032	c.307 others(3): Show c.307C>T	p.Arg others(4): Show p.Arg103*	MSS51	ENSG00000166343.10	transcript	ENST00000299432.7	protein_coding	3/7	373/2423	307/1383	103/460	chr10	TogoVar
MSS51_chr10_73418579_73438561	73427725	G G	A A	stop_gained stop_gained	HIGH	HG03834.hp2 HG03834.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0041 a0006c0012t0001g0041	1	316	0.0032	c.265 others(3): Show c.265C>T	p.Arg others(3): Show p.Arg89*	MSS51	ENSG00000166343.10	transcript	ENST00000299432.7	protein_coding	3/7	331/2423	265/1383	89/460	chr10	TogoVar

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