Joint Open Genome and Omics Platform (JoGo)

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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
AP4B1_chr1_113889194_113909799	113896310	G G	A A	synonymous_variant synonymous_variant	LOW	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0023 a0002c0007t0002g0023	2	434	0.0046	c.145 others(4): Show c.1458C>T	p.Ser others(6): Show p.Ser486Ser	AP4B1	ENSG00000134262.14	transcript	ENST00000369569.6	protein_coding	8/10	1540/3173	1458/2220	486/739	chr1	TogoVar
AP4B1_chr1_113889194_113909799	113901277	G G	A A	synonymous_variant synonymous_variant	LOW	HG00099.hp2 HG00423.hp2 HG00438.hp2 others(50): Show HG00099.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00642.hp2 HG00733.hp2 HG01099.hp2 HG01169.hp1 HG01255.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01891.hp1 HG02056.hp2 HG02080.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02155.hp2 HG02630.hp1 HG02683.hp2 HG03688.hp1 HG03834.hp2 HG04184.hp1 HG04204.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18950.hp1 NA18951.hp1 NA18957.hp1 NA18962.hp2 NA18963.hp1 NA18967.hp2 NA18979.hp1 NA18981.hp2 NA18983.hp2 NA18988.hp2 NA18989.hp1 NA18993.hp2 NA19004.hp1 NA19006.hp1 NA19056.hp2 NA19066.hp2 NA19067.hp1 NA19081.hp1 NA19082.hp2 NA19085.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0003t0008 a0001c0004t0001 a0001c0003t0001 a0001c0003t0008 a0001c0004t0001	a0001c0003t0001g0004 a0001c0003t0001g0013 a0001c0003t0001g0031 others(8): Show a0001c0003t0001g0004 a0001c0003t0001g0013 a0001c0003t0001g0031 a0001c0003t0001g0061 a0001c0003t0001g0062 a0001c0003t0001g0063 a0001c0003t0001g0065 a0001c0003t0001g0066 a0001c0003t0008g0064 a0001c0004t0001g0011 a0001c0004t0001g0081	53	434	0.1221	c.576 others(3): Show c.576C>T	p.Gly others(6): Show p.Gly192Gly	AP4B1	ENSG00000134262.14	transcript	ENST00000369569.6	protein_coding	4/10	658/3173	576/2220	192/739	chr1	TogoVar
AP4B1_chr1_113889194_113909799	113901822	T T	G G	synonymous_variant synonymous_variant	LOW	HG01168.hp1 HG01358.hp1 HG01168.hp1 HG01358.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0003 a0002c0008t0003	a0002c0008t0003g0029 a0002c0008t0003g0029	2	434	0.0046	c.402 others(3): Show c.402A>C	p.Ser others(6): Show p.Ser134Ser	AP4B1	ENSG00000134262.14	transcript	ENST00000369569.6	protein_coding	3/10	484/3173	402/2220	134/739	chr1	TogoVar
AP4B1_chr1_113889194_113909799	113902736	T T	C C	synonymous_variant synonymous_variant	LOW	HG02258.hp2 HG02572.hp2 HG02258.hp2 HG02572.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0030 a0002c0009t0002g0030	2	434	0.0046	c.240 others(3): Show c.240A>G	p.Pro others(5): Show p.Pro80Pro	AP4B1	ENSG00000134262.14	transcript	ENST00000369569.6	protein_coding	2/10	322/3173	240/2220	80/739	chr1	TogoVar
AP4B1_chr1_113889194_113909799	113904649	T T	C C	synonymous_variant synonymous_variant	LOW	HG00438.hp2 HG00544.hp2 NA18946.hp2 others(5): Show HG00438.hp2 HG00544.hp2 NA18946.hp2 NA18950.hp1 NA18962.hp2 NA18963.hp1 NA18988.hp2 NA19067.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0011 a0001c0004t0001g0081 a0001c0004t0001g0011 a0001c0004t0001g0081	8	434	0.0184	c.69A others(2): Show c.69A>G	p.Gln others(5): Show p.Gln23Gln	AP4B1	ENSG00000134262.14	transcript	ENST00000369569.6	protein_coding	1/10	151/3173	69/2220	23/739	chr1	TogoVar
AP4E1_chr15_50903683_51010895	50912098	G G	A A	synonymous_variant synonymous_variant	LOW	HG02257.hp1 HG03209.hp2 HG02257.hp1 HG03209.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0015 a0002c0006t0015	a0002c0006t0015g0347 a0002c0006t0015g0348 a0002c0006t0015g0347 a0002c0006t0015g0348	2	392	0.0051	c.171 others(3): Show c.171G>A	p.Gln others(5): Show p.Gln57Gln	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	2/21	267/6743	171/3414	57/1137	chr15	TogoVar
AP4E1_chr15_50903683_51010895	51002635	G G	A A	synonymous_variant synonymous_variant	LOW	HG00140.hp1 HG00323.hp2 HG00423.hp1 others(94): Show HG00140.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00621.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01123.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01516.hp2 HG01517.hp2 HG01943.hp1 HG01975.hp2 HG01981.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02129.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02698.hp2 HG02809.hp2 HG03041.hp2 HG03239.hp2 HG03490.hp1 HG03491.hp2 HG03710.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18946.hp2 NA18949.hp2 NA18950.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp2 NA18965.hp2 NA18966.hp1 NA18969.hp2 NA18971.hp2 NA18977.hp2 NA18978.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18987.hp1 NA18990.hp1 NA18992.hp2 NA18998.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19004.hp2 NA19006.hp1 NA19007.hp1 NA19012.hp2 NA19054.hp2 NA19056.hp1 NA19057.hp2 NA19060.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19072.hp2 NA19074.hp1 NA19075.hp2 NA19079.hp2 NA19081.hp2 NA19086.hp1 NA19088.hp2 NA19091.hp2 NA21309.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0010 a0002c0002 a0010c0008 a0001c0010 a0002c0002 a0010c0008	a0001c0010t0002 a0002c0002t0002 a0002c0002t0012 others(6): Show a0001c0010t0002 a0002c0002t0002 a0002c0002t0012 a0002c0002t0016 a0002c0002t0017 a0002c0002t0021 a0002c0002t0023 a0002c0002t0024 a0010c0008t0002	a0001c0010t0002g0355 a0002c0002t0002g0009 a0002c0002t0002g0010 others(94): Show a0001c0010t0002g0355 a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0012g0111 a0002c0002t0012g0112 a0002c0002t0016g0068 a0002c0002t0016g0116 a0002c0002t0017g0054 a0002c0002t0017g0055 a0002c0002t0021g0006 a0002c0002t0023g0042 a0002c0002t0024g0047 a0010c0008t0002g0005	97	392	0.2475	c.338 others(4): Show c.3387G>A	p.Gln others(7): Show p.Gln1129Gln	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	21/21	3483/6743	3387/3414	1129/1137	chr15	TogoVar
AP4M1_chr7_100096643_100114039	100101914	G G	A A	synonymous_variant synonymous_variant	LOW	NA18990.hp2 NA18993.hp1 NA18990.hp2 NA18993.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0027 a0001c0004t0002g0037 a0001c0004t0002g0027 a0001c0004t0002g0037	2	416	0.0048	c.93G others(2): Show c.93G>A	p.Glu others(5): Show p.Glu31Glu	AP4M1	ENSG00000221838.11	transcript	ENST00000359593.9	protein_coding	2/15	165/3591	93/1362	31/453	chr7	TogoVar
AP4M1_chr7_100096643_100114039	100103674	G G	A A	synonymous_variant synonymous_variant	LOW	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0027 a0001c0006t0027	a0001c0006t0027g0065 a0001c0006t0027g0065	1	416	0.0024	c.525 others(3): Show c.525G>A	p.Leu others(6): Show p.Leu175Leu	AP4M1	ENSG00000221838.11	transcript	ENST00000359593.9	protein_coding	6/15	597/3591	525/1362	175/453	chr7	TogoVar
AP4M1_chr7_100096643_100114039	100105495	C C	G G	synonymous_variant synonymous_variant	LOW	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0006 a0001c0008t0001g0006	1	416	0.0024	c.885 others(3): Show c.885C>G	p.Pro others(6): Show p.Pro295Pro	AP4M1	ENSG00000221838.11	transcript	ENST00000359593.9	protein_coding	11/15	957/3591	885/1362	295/453	chr7	TogoVar
AP4M1_chr7_100096643_100114039	100106268	C C	T T	synonymous_variant synonymous_variant	LOW	HG01123.hp2 HG01981.hp1 HG01123.hp2 HG01981.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0003 a0001c0005t0002g0003	2	416	0.0048	c.100 others(4): Show c.1002C>T	p.Leu others(6): Show p.Leu334Leu	AP4M1	ENSG00000221838.11	transcript	ENST00000359593.9	protein_coding	13/15	1074/3591	1002/1362	334/453	chr7	TogoVar
AP4M1_chr7_100096643_100114039	100106825	C C	T T	synonymous_variant synonymous_variant	LOW	HG01515.hp2 HG01517.hp2 HG02698.hp2 HG01515.hp2 HG01517.hp2 HG02698.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0002 a0001c0003t0001g0002	3	416	0.0072	c.130 others(4): Show c.1305C>T	p.Asn others(6): Show p.Asn435Asn	AP4M1	ENSG00000221838.11	transcript	ENST00000359593.9	protein_coding	15/15	1377/3591	1305/1362	435/453	chr7	TogoVar
AP4M1_chr7_100096643_100114039	100106864	C C	T T	synonymous_variant synonymous_variant	LOW	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0011 a0001c0007t0002g0011	1	416	0.0024	c.134 others(4): Show c.1344C>T	p.Ala others(6): Show p.Ala448Ala	AP4M1	ENSG00000221838.11	transcript	ENST00000359593.9	protein_coding	15/15	1416/3591	1344/1362	448/453	chr7	TogoVar
AP5B1_chr11_65768898_65785976	65777868	C C	T T	synonymous_variant synonymous_variant	LOW	NA18969.hp1 NA18998.hp2 NA18969.hp1 NA18998.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0024 a0001c0009t0001g0024	2	424	0.0047	c.262 others(4): Show c.2625G>A	p.Ala others(6): Show p.Ala875Ala	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	3010/6980	2625/2637	875/878	chr11	TogoVar
AP5B1_chr11_65768898_65785976	65778000	T T	C C	synonymous_variant synonymous_variant	LOW	HG02622.hp2 NA20129.hp2 HG02622.hp2 NA20129.hp2	a0001 a0001	a0001c0021 a0001c0028 a0001c0021 a0001c0028	a0001c0021t0023 a0001c0028t0023 a0001c0021t0023 a0001c0028t0023	a0001c0021t0023g0033 a0001c0028t0023g0034 a0001c0021t0023g0033 a0001c0028t0023g0034	2	424	0.0047	c.249 others(4): Show c.2493A>G	p.Ala others(6): Show p.Ala831Ala	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	2878/6980	2493/2637	831/878	chr11	TogoVar
AP5B1_chr11_65768898_65785976	65778180	C C	T T	synonymous_variant synonymous_variant	LOW	HG03195.hp1 NA21309.hp1 HG03195.hp1 NA21309.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0017 a0003c0010t0017	a0003c0010t0017g0019 a0003c0010t0017g0019	2	424	0.0047	c.231 others(4): Show c.2313G>A	p.Pro others(6): Show p.Pro771Pro	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	2698/6980	2313/2637	771/878	chr11	TogoVar
AP5B1_chr11_65768898_65785976	65778501	T T	C C	synonymous_variant synonymous_variant	LOW	HG02622.hp2 NA20129.hp2 HG02622.hp2 NA20129.hp2	a0001 a0001	a0001c0021 a0001c0028 a0001c0021 a0001c0028	a0001c0021t0023 a0001c0028t0023 a0001c0021t0023 a0001c0028t0023	a0001c0021t0023g0033 a0001c0028t0023g0034 a0001c0021t0023g0033 a0001c0028t0023g0034	2	424	0.0047	c.199 others(4): Show c.1992A>G	p.Val others(6): Show p.Val664Val	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	2377/6980	1992/2637	664/878	chr11	TogoVar
AP5B1_chr11_65768898_65785976	65778678	G G	A A	synonymous_variant synonymous_variant	LOW	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0052 a0001c0019t0001g0052	1	424	0.0024	c.181 others(4): Show c.1815C>T	p.Asp others(6): Show p.Asp605Asp	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	2200/6980	1815/2637	605/878	chr11	TogoVar
AP5B1_chr11_65768898_65785976	65778741	C C	T T	synonymous_variant synonymous_variant	LOW	HG03492.hp2 HG04228.hp1 HG03492.hp2 HG04228.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0023 a0001c0008t0001g0023	2	424	0.0047	c.175 others(4): Show c.1752G>A	p.Leu others(6): Show p.Leu584Leu	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	2137/6980	1752/2637	584/878	chr11	TogoVar
AP5B1_chr11_65768898_65785976	65778768	G G	A A	synonymous_variant synonymous_variant	LOW	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0053 a0001c0020t0001g0053	1	424	0.0024	c.172 others(4): Show c.1725C>T	p.Gly others(6): Show p.Gly575Gly	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	2110/6980	1725/2637	575/878	chr11	TogoVar
AP5B1_chr11_65768898_65785976	65778879	G G	A A	synonymous_variant synonymous_variant	LOW	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0026 a0002c0026	a0002c0026t0002 a0002c0026t0002	a0002c0026t0002g0063 a0002c0026t0002g0063	1	424	0.0024	c.161 others(4): Show c.1614C>T	p.Cys others(6): Show p.Cys538Cys	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	1999/6980	1614/2637	538/878	chr11	TogoVar
AP5B1_chr11_65768898_65785976	65779086	C C	T T	synonymous_variant synonymous_variant	LOW	HG02622.hp2 NA18954.hp1 NA20129.hp2 HG02622.hp2 NA18954.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0021 a0001c0028 a0003c0022 a0001c0021 a0001c0028 a0003c0022	a0001c0021t0023 a0001c0028t0023 a0003c0022t0003 a0001c0021t0023 a0001c0028t0023 a0003c0022t0003	a0001c0021t0023g0033 a0001c0028t0023g0034 a0003c0022t0003g0054 a0001c0021t0023g0033 a0001c0028t0023g0034 a0003c0022t0003g0054	3	424	0.0071	c.140 others(4): Show c.1407G>A	p.Ser others(6): Show p.Ser469Ser	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	1792/6980	1407/2637	469/878	chr11	TogoVar
AP5B1_chr11_65768898_65785976	65779386	A A	C C	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(192): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02056.hp2 HG02080.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03942.hp1 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18985.hp1 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18992.hp2 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19075.hp2 NA19076.hp1 NA19078.hp1 NA19078.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19087.hp1 NA19090.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0015	a0001c0004 a0001c0006 a0001c0021 others(14): Show a0001c0004 a0001c0006 a0001c0021 a0001c0028 a0002c0003 a0002c0007 a0002c0025 a0002c0026 a0003c0002 a0003c0010 a0003c0022 a0005c0011 a0006c0029 a0007c0027 a0008c0024 a0009c0023 a0015c0012	a0001c0004t0002 a0001c0004t0016 a0001c0004t0018 others(29): Show a0001c0004t0002 a0001c0004t0016 a0001c0004t0018 a0001c0004t0020 a0001c0004t0040 a0001c0006t0005 a0001c0006t0029 a0001c0021t0023 a0001c0028t0023 a0002c0003t0002 a0002c0003t0039 a0002c0007t0002 a0002c0025t0002 a0002c0026t0002 a0003c0002t0003 a0003c0002t0007 a0003c0002t0011 a0003c0002t0019 a0003c0002t0022 a0003c0002t0026 a0003c0002t0030 a0003c0002t0031 a0003c0002t0038 a0003c0002t0042 a0003c0010t0017 a0003c0022t0003 a0005c0011t0002 a0006c0029t0002 a0007c0027t0002 a0008c0024t0007 a0009c0023t0003 a0015c0012t0002	a0001c0004t0002g0005 a0001c0004t0016g0018 a0001c0004t0018g0020 others(29): Show a0001c0004t0002g0005 a0001c0004t0016g0018 a0001c0004t0018g0020 a0001c0004t0020g0022 a0001c0004t0040g0032 a0001c0006t0005g0007 a0001c0006t0029g0038 a0001c0021t0023g0033 a0001c0028t0023g0034 a0002c0003t0002g0002 a0002c0003t0039g0062 a0002c0007t0002g0006 a0002c0025t0002g0061 a0002c0026t0002g0063 a0003c0002t0003g0003 a0003c0002t0007g0012 a0003c0002t0011g0013 a0003c0002t0019g0021 a0003c0002t0022g0026 a0003c0002t0026g0029 a0003c0002t0030g0056 a0003c0002t0031g0057 a0003c0002t0038g0058 a0003c0002t0042g0059 a0003c0010t0017g0019 a0003c0022t0003g0054 a0005c0011t0002g0027 a0006c0029t0002g0035 a0007c0027t0002g0064 a0008c0024t0007g0060 a0009c0023t0003g0055 a0015c0012t0002g0036	195	424	0.4599	c.110 others(4): Show c.1107T>G	p.Leu others(6): Show p.Leu369Leu	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	1492/6980	1107/2637	369/878	chr11	TogoVar
AP5B1_chr11_65768898_65785976	65779473	T T	C C	synonymous_variant synonymous_variant	LOW	HG02622.hp2 NA20129.hp2 HG02622.hp2 NA20129.hp2	a0001 a0001	a0001c0021 a0001c0028 a0001c0021 a0001c0028	a0001c0021t0023 a0001c0028t0023 a0001c0021t0023 a0001c0028t0023	a0001c0021t0023g0033 a0001c0028t0023g0034 a0001c0021t0023g0033 a0001c0028t0023g0034	2	424	0.0047	c.102 others(4): Show c.1020A>G	p.Thr others(6): Show p.Thr340Thr	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	1405/6980	1020/2637	340/878	chr11	TogoVar
AP5B1_chr11_65768898_65785976	65779662	G G	A A	synonymous_variant synonymous_variant	LOW	HG00423.hp2 HG02056.hp2 HG02523.hp2 others(7): Show HG00423.hp2 HG02056.hp2 HG02523.hp2 NA18747.hp2 NA18942.hp2 NA18977.hp1 NA18987.hp2 NA18992.hp2 NA19003.hp1 NA19067.hp2	a0002 a0015 a0002 a0015	a0002c0007 a0015c0012 a0002c0007 a0015c0012	a0002c0007t0002 a0015c0012t0002 a0002c0007t0002 a0015c0012t0002	a0002c0007t0002g0006 a0015c0012t0002g0036 a0002c0007t0002g0006 a0015c0012t0002g0036	10	424	0.0236	c.831 others(3): Show c.831C>T	p.Thr others(6): Show p.Thr277Thr	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	1216/6980	831/2637	277/878	chr11	TogoVar
AP5B1_chr11_65768898_65785976	65779764	C C	G G	synonymous_variant synonymous_variant	LOW	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0002 a0002c0025t0002	a0002c0025t0002g0061 a0002c0025t0002g0061	1	424	0.0024	c.729 others(3): Show c.729G>C	p.Pro others(6): Show p.Pro243Pro	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	1114/6980	729/2637	243/878	chr11	TogoVar
AP5B1_chr11_65768898_65785976	65780052	C C	T T	synonymous_variant synonymous_variant	LOW	NA18955.hp1 NA18955.hp1	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0027 a0013c0015t0027	a0013c0015t0027g0030 a0013c0015t0027g0030	1	424	0.0024	c.441 others(3): Show c.441G>A	p.Gln others(6): Show p.Gln147Gln	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	826/6980	441/2637	147/878	chr11	TogoVar
AP5B1_chr11_65768898_65785976	65780088	T T	G G	synonymous_variant synonymous_variant	LOW	NA18955.hp1 NA18955.hp1	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0027 a0013c0015t0027	a0013c0015t0027g0030 a0013c0015t0027g0030	1	424	0.0024	c.405 others(3): Show c.405A>C	p.Arg others(6): Show p.Arg135Arg	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	790/6980	405/2637	135/878	chr11	TogoVar
AP5B1_chr11_65768898_65785976	65780112	C C	G G	synonymous_variant synonymous_variant	LOW	NA18955.hp1 NA18955.hp1	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0027 a0013c0015t0027	a0013c0015t0027g0030 a0013c0015t0027g0030	1	424	0.0024	c.381 others(3): Show c.381G>C	p.Leu others(6): Show p.Leu127Leu	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	766/6980	381/2637	127/878	chr11	TogoVar
AP5B1_chr11_65768898_65785976	65780124	T T	G G	synonymous_variant synonymous_variant	LOW	NA18955.hp1 NA18955.hp1	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0027 a0013c0015t0027	a0013c0015t0027g0030 a0013c0015t0027g0030	1	424	0.0024	c.369 others(3): Show c.369A>C	p.Leu others(6): Show p.Leu123Leu	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	754/6980	369/2637	123/878	chr11	TogoVar
AP5B1_chr11_65768898_65785976	65780127	G G	A A	synonymous_variant synonymous_variant	LOW	NA18955.hp1 NA18955.hp1	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0027 a0013c0015t0027	a0013c0015t0027g0030 a0013c0015t0027g0030	1	424	0.0024	c.366 others(3): Show c.366C>T	p.Pro others(6): Show p.Pro122Pro	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	751/6980	366/2637	122/878	chr11	TogoVar
AP5B1_chr11_65768898_65785976	65780130	C C	G G	synonymous_variant synonymous_variant	LOW	NA18955.hp1 NA18955.hp1	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0027 a0013c0015t0027	a0013c0015t0027g0030 a0013c0015t0027g0030	1	424	0.0024	c.363 others(3): Show c.363G>C	p.Leu others(6): Show p.Leu121Leu	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	748/6980	363/2637	121/878	chr11	TogoVar
AP5B1_chr11_65768898_65785976	65780136	C C	T T	synonymous_variant synonymous_variant	LOW	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0039 a0001c0014t0001g0039	1	424	0.0024	c.357 others(3): Show c.357G>A	p.Arg others(6): Show p.Arg119Arg	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	742/6980	357/2637	119/878	chr11	TogoVar
AP5B1_chr11_65768898_65785976	65780142	G G	C C	synonymous_variant synonymous_variant	LOW	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0023 a0001c0028t0023	a0001c0028t0023g0034 a0001c0028t0023g0034	1	424	0.0024	c.351 others(3): Show c.351C>G	p.Ser others(6): Show p.Ser117Ser	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	736/6980	351/2637	117/878	chr11	TogoVar
AP5B1_chr11_65768898_65785976	65780304	C C	T T	synonymous_variant synonymous_variant	LOW	HG01106.hp2 HG02818.hp1 HG02895.hp1 others(6): Show HG01106.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG03041.hp1 HG03453.hp1 NA19030.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0029 a0001c0006t0005 a0001c0006t0029	a0001c0006t0005g0007 a0001c0006t0029g0038 a0001c0006t0005g0007 a0001c0006t0029g0038	9	424	0.0212	c.189 others(3): Show c.189G>A	p.Gln others(5): Show p.Gln63Gln	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	574/6980	189/2637	63/878	chr11	TogoVar
AP5M1_chr14_57263971_57303742	57269320	G G	T T	synonymous_variant synonymous_variant	LOW	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0069 a0001c0013t0001g0069	1	280	0.0036	c.6G> others(1): Show c.6G>T	p.Ala others(4): Show p.Ala2Ala	AP5M1	ENSG00000053770.12	transcript	ENST00000261558.8	protein_coding	1/8	350/11675	6/1473	2/490	chr14	TogoVar
AP5M1_chr14_57263971_57303742	57274730	A A	G G	synonymous_variant synonymous_variant	LOW	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0024 a0001c0012t0024	a0001c0012t0024g0110 a0001c0012t0024g0110	1	280	0.0036	c.561 others(3): Show c.561A>G	p.Ala others(6): Show p.Ala187Ala	AP5M1	ENSG00000053770.12	transcript	ENST00000261558.8	protein_coding	2/8	905/11675	561/1473	187/490	chr14	TogoVar
AP5M1_chr14_57263971_57303742	57274745	A A	G G	synonymous_variant synonymous_variant	LOW	HG02809.hp2 NA19240.hp1 HG02809.hp2 NA19240.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0022 a0001c0009t0002g0022	2	280	0.0071	c.576 others(3): Show c.576A>G	p.Pro others(6): Show p.Pro192Pro	AP5M1	ENSG00000053770.12	transcript	ENST00000261558.8	protein_coding	2/8	920/11675	576/1473	192/490	chr14	TogoVar
AP5M1_chr14_57263971_57303742	57274832	A A	G G	synonymous_variant synonymous_variant	LOW	HG00609.hp2 HG00642.hp1 HG00733.hp1 others(93): Show HG00609.hp2 HG00642.hp1 HG00733.hp1 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01109.hp1 HG01123.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02109.hp1 HG02109.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03710.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18941.hp2 NA18944.hp2 NA18956.hp2 NA18979.hp1 NA19001.hp1 NA19010.hp1 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19088.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0007	a0001c0002 a0001c0009 a0001c0011 others(6): Show a0001c0002 a0001c0009 a0001c0011 a0001c0012 a0002c0003 a0003c0004 a0004c0005 a0006c0007 a0007c0008	a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 others(28): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0010 a0001c0002t0015 a0001c0002t0016 a0001c0002t0021 a0001c0002t0025 a0001c0002t0028 a0001c0002t0029 a0001c0002t0031 a0001c0002t0048 a0001c0002t0049 a0001c0002t0050 a0001c0002t0051 a0001c0009t0002 a0001c0011t0002 a0001c0012t0024 a0002c0003t0002 a0002c0003t0012 a0002c0003t0027 a0003c0004t0004 a0003c0004t0011 a0003c0004t0022 a0003c0004t0023 a0004c0005t0013 a0004c0005t0026 a0004c0005t0030 a0006c0007t0002 a0007c0008t0003	a0001c0002t0002g0003 a0001c0002t0002g0005 a0001c0002t0002g0009 others(56): Show a0001c0002t0002g0003 a0001c0002t0002g0005 a0001c0002t0002g0009 a0001c0002t0002g0021 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0047 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0003g0003 a0001c0002t0003g0006 a0001c0002t0003g0009 a0001c0002t0003g0038 a0001c0002t0004g0100 a0001c0002t0007g0023 a0001c0002t0007g0039 a0001c0002t0007g0045 a0001c0002t0010g0014 a0001c0002t0015g0095 a0001c0002t0015g0096 a0001c0002t0016g0003 a0001c0002t0021g0097 a0001c0002t0025g0048 a0001c0002t0028g0003 a0001c0002t0029g0003 a0001c0002t0031g0005 a0001c0002t0048g0034 a0001c0002t0049g0046 a0001c0002t0050g0034 a0001c0002t0051g0099 a0001c0009t0002g0022 a0001c0011t0002g0005 a0001c0012t0024g0110 a0002c0003t0002g0004 a0002c0003t0002g0009 a0002c0003t0002g0052 a0002c0003t0002g0053 a0002c0003t0002g0054 a0002c0003t0002g0055 a0002c0003t0002g0108 a0002c0003t0012g0004 a0002c0003t0027g0004 a0003c0004t0004g0008 a0003c0004t0004g0019 a0003c0004t0004g0102 a0003c0004t0004g0103 a0003c0004t0011g0008 a0003c0004t0022g0101 a0003c0004t0023g0008 a0004c0005t0013g0012 a0004c0005t0026g0098 a0004c0005t0030g0012 a0006c0007t0002g0003 a0006c0007t0002g0004 a0007c0008t0003g0020	96	280	0.3429	c.663 others(3): Show c.663A>G	p.Gln others(6): Show p.Gln221Gln	AP5M1	ENSG00000053770.12	transcript	ENST00000261558.8	protein_coding	2/8	1007/11675	663/1473	221/490	chr14	TogoVar
AP5M1_chr14_57263971_57303742	57280347	T T	C C	synonymous_variant synonymous_variant	LOW	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0005 a0001c0011t0002g0005	1	280	0.0036	c.873 others(3): Show c.873T>C	p.Ser others(6): Show p.Ser291Ser	AP5M1	ENSG00000053770.12	transcript	ENST00000261558.8	protein_coding	3/8	1217/11675	873/1473	291/490	chr14	TogoVar
AP5Z1_chr7_4770623_4799397	4783318	T T	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03139.hp2 NA18522.hp2 NA20300.hp1 HG03139.hp2 NA18522.hp2 NA20300.hp1	a0009 a0019 a0009 a0019	a0009c0010 a0019c0017 a0009c0010 a0019c0017	a0009c0010t0023 a0009c0010t0025 a0019c0017t0024 a0009c0010t0023 a0009c0010t0025 a0019c0017t0024	a0009c0010t0023g0034 a0009c0010t0025g0034 a0019c0017t0024g0097 a0009c0010t0023g0034 a0009c0010t0025g0034 a0019c0017t0024g0097	3	340	0.0088	c.369 others(3): Show c.369T>C	p.Gly others(6): Show p.Gly123Gly	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	4/17	462/5529	369/2424	123/807	chr7	TogoVar
AP5Z1_chr7_4770623_4799397	4783393	C C	G G	synonymous_variant synonymous_variant	LOW	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0033 a0002c0033	a0002c0033t0002 a0002c0033t0002	a0002c0033t0002g0047 a0002c0033t0002g0047	1	340	0.0029	c.444 others(3): Show c.444C>G	p.Pro others(6): Show p.Pro148Pro	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	4/17	537/5529	444/2424	148/807	chr7	TogoVar
AP5Z1_chr7_4770623_4799397	4783765	C C	T T	synonymous_variant synonymous_variant	LOW	HG02132.hp1 NA18960.hp2 HG02132.hp1 NA18960.hp2	a0008 a0013 a0008 a0013	a0008c0035 a0013c0032 a0008c0035 a0013c0032	a0008c0035t0042 a0013c0032t0001 a0008c0035t0042 a0013c0032t0001	a0008c0035t0042g0001 a0013c0032t0001g0022 a0008c0035t0042g0001 a0013c0032t0001g0022	2	340	0.0059	c.588 others(3): Show c.588C>T	p.Ser others(6): Show p.Ser196Ser	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	5/17	681/5529	588/2424	196/807	chr7	TogoVar
AP5Z1_chr7_4770623_4799397	4784256	G G	C C	synonymous_variant synonymous_variant	LOW	HG03139.hp2 HG03139.hp2	a0019 a0019	a0019c0017 a0019c0017	a0019c0017t0024 a0019c0017t0024	a0019c0017t0024g0097 a0019c0017t0024g0097	1	340	0.0029	c.675 others(3): Show c.675G>C	p.Val others(6): Show p.Val225Val	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	6/17	768/5529	675/2424	225/807	chr7	TogoVar
AP5Z1_chr7_4770623_4799397	4784340	C C	T T	synonymous_variant synonymous_variant	LOW	HG00597.hp1 HG01070.hp2 HG01071.hp1 others(100): Show HG00597.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01175.hp1 HG01243.hp1 HG01261.hp2 HG01515.hp1 HG02055.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18942.hp2 NA18951.hp2 NA18962.hp2 NA18969.hp2 NA19043.hp2 NA19057.hp2 NA19066.hp1 NA19070.hp2 NA19085.hp1 NA19086.hp2 NA19089.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0007 a0009 a0010 a0011 a0015 a0019	a0001c0002 a0001c0006 a0001c0014 others(10): Show a0001c0002 a0001c0006 a0001c0014 a0002c0003 a0002c0030 a0002c0033 a0003c0004 a0007c0018 a0009c0010 a0010c0012 a0011c0013 a0015c0029 a0019c0017	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(30): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0015 a0001c0002t0017 a0001c0002t0018 a0001c0002t0027 a0001c0002t0031 a0001c0002t0032 a0001c0002t0033 a0001c0002t0036 a0001c0002t0038 a0001c0002t0044 a0001c0006t0003 a0001c0014t0006 a0001c0014t0029 a0002c0003t0002 a0002c0003t0011 a0002c0003t0043 a0002c0030t0002 a0002c0033t0002 a0003c0004t0004 a0003c0004t0007 a0007c0018t0019 a0009c0010t0023 a0009c0010t0025 a0010c0012t0007 a0010c0012t0046 a0011c0013t0021 a0011c0013t0045 a0015c0029t0020 a0019c0017t0024	a0001c0002t0001g0036 a0001c0002t0002g0007 a0001c0002t0003g0007 others(68): Show a0001c0002t0001g0036 a0001c0002t0002g0007 a0001c0002t0003g0007 a0001c0002t0003g0008 a0001c0002t0003g0029 a0001c0002t0003g0073 a0001c0002t0003g0075 a0001c0002t0003g0076 a0001c0002t0003g0078 a0001c0002t0003g0080 a0001c0002t0003g0086 a0001c0002t0006g0011 a0001c0002t0006g0094 a0001c0002t0006g0095 a0001c0002t0006g0175 a0001c0002t0015g0049 a0001c0002t0015g0084 a0001c0002t0017g0024 a0001c0002t0018g0071 a0001c0002t0018g0072 a0001c0002t0027g0088 a0001c0002t0031g0060 a0001c0002t0032g0083 a0001c0002t0033g0074 a0001c0002t0036g0053 a0001c0002t0038g0011 a0001c0002t0044g0085 a0001c0006t0003g0010 a0001c0006t0003g0079 a0001c0006t0003g0081 a0001c0014t0006g0096 a0001c0014t0029g0093 a0002c0003t0002g0003 a0002c0003t0002g0014 a0002c0003t0002g0026 a0002c0003t0002g0027 a0002c0003t0002g0047 a0002c0003t0002g0058 a0002c0003t0002g0059 a0002c0003t0002g0061 a0002c0003t0002g0062 a0002c0003t0002g0063 a0002c0003t0002g0064 a0002c0003t0002g0065 a0002c0003t0002g0066 a0002c0003t0002g0104 a0002c0003t0002g0174 a0002c0003t0011g0003 a0002c0003t0011g0025 a0002c0003t0011g0057 a0002c0003t0043g0025 a0002c0030t0002g0014 a0002c0033t0002g0047 a0003c0004t0004g0004 a0003c0004t0004g0016 a0003c0004t0004g0056 a0003c0004t0004g0068 a0003c0004t0004g0069 a0003c0004t0004g0070 a0003c0004t0007g0017 a0003c0004t0007g0077 a0003c0004t0007g0101 a0007c0018t0019g0054 a0009c0010t0023g0034 a0009c0010t0025g0034 a0010c0012t0007g0004 a0010c0012t0046g0178 a0011c0013t0021g0030 a0011c0013t0045g0030 a0015c0029t0020g0082 a0019c0017t0024g0097	103	340	0.3029	c.759 others(3): Show c.759C>T	p.Ser others(6): Show p.Ser253Ser	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	6/17	852/5529	759/2424	253/807	chr7	TogoVar
AP5Z1_chr7_4770623_4799397	4784367	C C	T T	synonymous_variant synonymous_variant	LOW	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0001 a0001c0027t0001	a0001c0027t0001g0043 a0001c0027t0001g0043	1	340	0.0029	c.786 others(3): Show c.786C>T	p.Asp others(6): Show p.Asp262Asp	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	6/17	879/5529	786/2424	262/807	chr7	TogoVar
AP5Z1_chr7_4770623_4799397	4784951	C C	T T	synonymous_variant synonymous_variant	LOW	NA19070.hp2 NA19070.hp2	a0002 a0002	a0002c0030 a0002c0030	a0002c0030t0002 a0002c0030t0002	a0002c0030t0002g0014 a0002c0030t0002g0014	1	340	0.0029	c.834 others(3): Show c.834C>T	p.Ser others(6): Show p.Ser278Ser	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	7/17	927/5529	834/2424	278/807	chr7	TogoVar
AP5Z1_chr7_4770623_4799397	4785683	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00597.hp1 HG01074.hp1 HG01261.hp2 others(28): Show HG00597.hp1 HG01074.hp1 HG01261.hp2 HG02074.hp2 HG02486.hp2 HG02698.hp1 HG02735.hp1 HG03225.hp1 HG03239.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp1 NA18747.hp2 NA18940.hp1 NA18942.hp2 NA18951.hp2 NA18962.hp2 NA18969.hp2 NA19057.hp2 NA19066.hp1 NA19070.hp2 NA19085.hp1 NA19086.hp2 NA19089.hp1	a0002 a0002	a0002c0003 a0002c0030 a0002c0033 a0002c0003 a0002c0030 a0002c0033	a0002c0003t0002 a0002c0003t0011 a0002c0003t0043 others(2): Show a0002c0003t0002 a0002c0003t0011 a0002c0003t0043 a0002c0030t0002 a0002c0033t0002	a0002c0003t0002g0003 a0002c0003t0002g0014 a0002c0003t0002g0026 others(18): Show a0002c0003t0002g0003 a0002c0003t0002g0014 a0002c0003t0002g0026 a0002c0003t0002g0027 a0002c0003t0002g0047 a0002c0003t0002g0058 a0002c0003t0002g0059 a0002c0003t0002g0061 a0002c0003t0002g0062 a0002c0003t0002g0063 a0002c0003t0002g0064 a0002c0003t0002g0065 a0002c0003t0002g0066 a0002c0003t0002g0104 a0002c0003t0002g0174 a0002c0003t0011g0003 a0002c0003t0011g0025 a0002c0003t0011g0057 a0002c0003t0043g0025 a0002c0030t0002g0014 a0002c0033t0002g0047	31	340	0.0912	c.113 others(4): Show c.1131C>T	p.His others(6): Show p.His377His	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	9/17	1224/5529	1131/2424	377/807	chr7	TogoVar
AP5Z1_chr7_4770623_4799397	4786314	G G	A A	synonymous_variant synonymous_variant	LOW	HG01074.hp2 HG01081.hp2 HG01361.hp2 others(1): Show HG01074.hp2 HG01081.hp2 HG01361.hp2 HG03491.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0012 a0004c0007t0012	a0004c0007t0012g0015 a0004c0007t0012g0067 a0004c0007t0012g0015 a0004c0007t0012g0067	4	340	0.0118	c.119 others(4): Show c.1197G>A	p.Glu others(6): Show p.Glu399Glu	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	10/17	1290/5529	1197/2424	399/807	chr7	TogoVar
AP5Z1_chr7_4770623_4799397	4786353	G G	A A	synonymous_variant synonymous_variant	LOW	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0001 a0001c0020t0001g0001	1	340	0.0029	c.123 others(4): Show c.1236G>A	p.Gln others(6): Show p.Gln412Gln	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	10/17	1329/5529	1236/2424	412/807	chr7	TogoVar

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