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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Select column to sort.

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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	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
AP1S2_chrX_15820806_15859813	15845903	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0138 a0001c0002t0001g0138	1	318	0.0031	0	c.288 others(3): Show c.288T>C	p.Ser others(5): Show p.Ser96Ser	AP1S2	ENSG00000182287.15	transcript	ENST00000672987.1	protein_coding	3/6	414/2128	288/483	96/160		chrX	TogoVar
AP2A1_chr19_49762001_49812114	49802941	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00438.hp2 HG00639.hp2 others(39): Show HG00140.hp1 HG00438.hp2 HG00639.hp2 HG00733.hp2 HG01069.hp1 HG01167.hp1 HG01346.hp2 HG02071.hp1 HG02129.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02630.hp2 HG02683.hp2 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02922.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03486.hp2 HG03669.hp2 HG03834.hp1 NA18948.hp2 NA18950.hp1 NA18957.hp1 NA18961.hp1 NA18967.hp1 NA18969.hp2 NA18973.hp2 NA18978.hp2 NA18989.hp1 NA18992.hp1 NA19004.hp2 NA19007.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0001	a0001c0001t0001g0018 a0001c0001t0001g0118 a0001c0001t0001g0127 others(39): Show a0001c0001t0001g0018 a0001c0001t0001g0118 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0193 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0262 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0279 a0001c0001t0002g0208 a0001c0001t0005g0224 a0001c0001t0005g0225 a0001c0002t0001g0228 a0001c0002t0001g0230 a0001c0002t0001g0243 a0001c0002t0001g0247	42	342	0.1228	0	c.211 others(6): Show c.2115-8G>T		AP2A1	ENSG00000196961.13	transcript	ENST00000354293.10	protein_coding	15/22					chr19	TogoVar
AP2A1_chr19_49762001_49812114	49802943	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02717.hp2 NA19240.hp1 HG02717.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0285 a0001c0001t0001g0280 a0001c0001t0001g0285	2	342	0.0059	0	c.211 others(6): Show c.2115-6C>T		AP2A1	ENSG00000196961.13	transcript	ENST00000354293.10	protein_coding	15/22					chr19	TogoVar
AP2A1_chr19_49762001_49812114	49805661	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03453.hp2 NA19030.hp2 HG03453.hp2 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0211 a0001c0004t0001g0310 a0001c0004t0001g0211 a0001c0004t0001g0310	2	342	0.0059	0	c.246 others(4): Show c.2469G>A	p.Arg others(6): Show p.Arg823Arg	AP2A1	ENSG00000196961.13	transcript	ENST00000354293.10	protein_coding	20/23	2602/3357	2469/2868	823/955		chr19	TogoVar
AP2A2_chr11_920870_1017240	992691	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(123): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01884.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02056.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02523.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02683.hp1 HG02723.hp1 HG02818.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03704.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18990.hp1 NA18994.hp1 NA18994.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp2 NA19030.hp2 NA19060.hp1 NA19065.hp2 NA19066.hp1 NA19079.hp1 NA19082.hp2 NA19088.hp1 NA19088.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0001c0012 a0001c0013 a0004c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0002t0002 a0001c0006t0001 a0001c0006t0018 a0001c0012t0001 a0001c0013t0001 a0004c0014t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 others(123): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0263 a0001c0001t0002g0053 a0001c0001t0002g0098 a0001c0001t0003g0102 a0001c0001t0003g0129 a0001c0001t0005g0019 a0001c0001t0005g0081 a0001c0001t0005g0082 a0001c0001t0005g0083 a0001c0001t0005g0084 a0001c0001t0005g0087 a0001c0001t0005g0103 a0001c0001t0005g0152 a0001c0001t0006g0008 a0001c0001t0006g0009 a0001c0001t0007g0039 a0001c0001t0007g0088 a0001c0001t0007g0089 a0001c0001t0007g0090 a0001c0001t0007g0091 a0001c0001t0007g0105 a0001c0001t0013g0063 a0001c0001t0014g0125 a0001c0001t0015g0066 a0001c0001t0016g0045 a0001c0001t0017g0069 a0001c0001t0019g0020 a0001c0002t0002g0241 a0001c0006t0001g0036 a0001c0006t0001g0043 a0001c0006t0001g0126 a0001c0006t0018g0099 a0001c0012t0001g0096 a0001c0013t0001g0127 a0004c0014t0001g0262	126	268	0.4702	0	c.145 others(6): Show c.1452+6G>T		AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	11/21					chr11	TogoVar
AP2A2_chr11_920870_1017240	993750	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01106.hp2 HG04228.hp1 HG01106.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0002 a0001c0001t0005 a0001c0002t0002	a0001c0001t0005g0087 a0001c0002t0002g0155 a0001c0001t0005g0087 a0001c0002t0002g0155	2	268	0.0075	0	c.155 others(6): Show c.1551-4C>G		AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	12/21					chr11	TogoVar
AP2A2_chr11_920870_1017240	1008008	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	268	0.0037	0	c.229 others(6): Show c.2297-4G>A		AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	17/21					chr11	TogoVar
AP2B1_chr17_35582322_35731413	35598341	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0311 a0001c0003t0001g0311	1	372	0.0027	0	c.143 others(5): Show c.143+6A>T		AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	3/21					chr17	TogoVar
AP2B1_chr17_35582322_35731413	35627508	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp1 HG00438.hp2 HG00544.hp1 others(63): Show HG00323.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00735.hp1 HG01069.hp1 HG01070.hp2 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp1 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02040.hp2 HG02257.hp1 HG02647.hp2 HG02809.hp1 HG03225.hp2 HG03471.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03704.hp1 HG03710.hp1 HG03942.hp1 NA18940.hp1 NA18943.hp2 NA18944.hp1 NA18948.hp2 NA18949.hp1 NA18953.hp1 NA18955.hp1 NA18956.hp2 NA18969.hp1 NA18975.hp1 NA18983.hp2 NA18986.hp2 NA18987.hp1 NA18992.hp2 NA18994.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19004.hp1 NA19007.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19066.hp2 NA19077.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19084.hp2 NA19086.hp1 NA19089.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0006 a0001c0001t0018 others(2): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0018 a0001c0001t0019 a0001c0005t0002	a0001c0001t0002g0001 a0001c0001t0002g0053 a0001c0001t0002g0063 others(62): Show a0001c0001t0002g0001 a0001c0001t0002g0053 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0068 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0006g0062 a0001c0001t0006g0066 a0001c0001t0006g0067 a0001c0001t0006g0069 a0001c0001t0006g0070 a0001c0001t0006g0071 a0001c0001t0006g0072 a0001c0001t0006g0076 a0001c0001t0006g0085 a0001c0001t0006g0119 a0001c0001t0006g0184 a0001c0001t0006g0185 a0001c0001t0006g0317 a0001c0001t0018g0077 a0001c0001t0019g0089 a0001c0005t0002g0116	66	372	0.1774	0	c.105 others(6): Show c.1059+3C>G		AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	8/21					chr17	TogoVar
AP2M1_chr3_184169855_184189091	184178853	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00140.hp2 HG00408.hp1 others(180): Show HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01928.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02970.hp1 HG03017.hp1 HG03195.hp1 HG03225.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp2 NA18967.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18974.hp2 NA18975.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19056.hp1 NA19057.hp2 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19074.hp2 NA19075.hp2 NA19076.hp1 NA19077.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(37): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0003g0004 a0001c0001t0003g0031 a0001c0002t0001g0061 a0001c0002t0002g0033 a0001c0003t0001g0006 a0001c0003t0001g0067 a0001c0005t0001g0060	183	422	0.4337	0	c.75- others(4): Show c.75-4T>C		AP2M1	ENSG00000161203.14	transcript	ENST00000292807.9	protein_coding	2/11					chr3	TogoVar
AP2S1_chr19_46833167_46855846	46839460	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp1 HG00558.hp2 HG00597.hp1 others(159): Show HG00408.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01109.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03492.hp2 HG03540.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG04115.hp1 HG04184.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp2 NA18955.hp1 NA18959.hp2 NA18961.hp1 NA18966.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp2 NA18995.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19070.hp1 NA19072.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19084.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(110): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0121 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0228 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0263 a0001c0001t0001g0267 a0001c0001t0001g0270 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0285 a0001c0001t0001g0291 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0303 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0316 a0001c0001t0001g0319 a0001c0001t0002g0264 a0001c0001t0004g0023 a0001c0001t0004g0060 a0001c0001t0004g0203 a0001c0001t0004g0205 a0001c0001t0004g0212 a0001c0001t0007g0157	162	424	0.3821	0	c.267 others(5): Show c.267+5G>A		AP2S1	ENSG00000042753.12	transcript	ENST00000263270.11	protein_coding	3/4					chr19	TogoVar
AP2S1_chr19_46833167_46855846	46846147	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	424	0.0024	0	c.4-5 others(3): Show c.4-5C>T		AP2S1	ENSG00000042753.12	transcript	ENST00000263270.11	protein_coding	1/4					chr19	TogoVar
AP3B1_chr5_77997326_78299698	78015546	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG06807.hp1 HG06807.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0002 a0008c0011t0002	a0008c0011t0002g0165 a0008c0011t0002g0165	1	226	0.0044	0	c.299 others(4): Show c.2995G>A	p.Val others(6): Show p.Val999Met	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	26/27	3114/3980	2995/3285	999/1094		chr5	TogoVar
AP3B1_chr5_77997326_78299698	78034449	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02615.hp2 HG03453.hp1 HG03540.hp2 HG02615.hp2 HG03453.hp1 HG03540.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0001 a0001c0004t0002g0002 a0001c0004t0002g0003 a0001c0004t0002g0001 a0001c0004t0002g0002 a0001c0004t0002g0003	3	226	0.0133	0	c.281 others(6): Show c.2810-4C>T		AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	23/26					chr5	TogoVar
AP3B1_chr5_77997326_78299698	78177341	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00280.hp2 HG00597.hp2 HG00639.hp1 others(48): Show HG00280.hp2 HG00597.hp2 HG00639.hp1 HG00735.hp1 HG00741.hp2 HG01070.hp1 HG01106.hp1 HG01175.hp1 HG01361.hp2 HG01515.hp1 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp2 HG02083.hp2 HG02135.hp1 HG02148.hp2 HG02602.hp1 HG02723.hp2 HG02738.hp1 HG02818.hp1 HG02895.hp1 HG03130.hp1 HG03139.hp1 HG03540.hp1 HG03654.hp1 HG04199.hp2 HG06807.hp1 NA18947.hp1 NA18949.hp2 NA18950.hp1 NA18956.hp2 NA18964.hp1 NA18969.hp1 NA18971.hp1 NA18978.hp2 NA18982.hp1 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18992.hp1 NA19002.hp2 NA19030.hp1 NA19064.hp2 NA19070.hp1 NA19074.hp1 NA19081.hp2 NA20905.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0008	a0001c0002 a0001c0012 a0003c0007 others(2): Show a0001c0002 a0001c0012 a0003c0007 a0004c0017 a0008c0011	a0001c0002t0001 a0001c0002t0002 a0001c0012t0001 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0012t0001 a0003c0007t0002 a0004c0017t0002 a0008c0011t0002	a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0180 others(48): Show a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0002g0064 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0143 a0001c0002t0002g0146 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0153 a0001c0002t0002g0154 a0001c0002t0002g0155 a0001c0002t0002g0156 a0001c0002t0002g0157 a0001c0002t0002g0158 a0001c0002t0002g0160 a0001c0002t0002g0162 a0001c0002t0002g0164 a0001c0002t0002g0166 a0001c0002t0002g0168 a0001c0002t0002g0169 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0174 a0001c0002t0002g0175 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0012t0001g0142 a0003c0007t0002g0072 a0003c0007t0002g0079 a0003c0007t0002g0081 a0003c0007t0002g0140 a0003c0007t0002g0141 a0003c0007t0002g0148 a0004c0017t0002g0163 a0008c0011t0002g0165	51	226	0.2257	0	c.103 others(4): Show c.1038T>C	p.Asn others(6): Show p.Asn346Asn	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	9/27	1157/3980	1038/3285	346/1094		chr5	TogoVar
AP3B1_chr5_77997326_78299698	78181507	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0024 a0001c0010t0002g0024	1	226	0.0044	0	c.942 others(3): Show c.942G>A	p.Ala others(6): Show p.Ala314Ala	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	8/27	1061/3980	942/3285	314/1094		chr5	TogoVar
AP3B1_chr5_77997326_78299698	78228244	T T	TA TA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00408.hp1 HG00558.hp1 others(83): Show HG00099.hp2 HG00408.hp1 HG00558.hp1 HG00639.hp2 HG00642.hp1 HG00741.hp1 HG01168.hp1 HG01168.hp2 HG01256.hp1 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02109.hp2 HG02135.hp2 HG02148.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02735.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG03195.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03704.hp2 HG03831.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA18947.hp2 NA18950.hp2 NA18952.hp2 NA18961.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18973.hp1 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18988.hp1 NA18992.hp2 NA18995.hp1 NA18998.hp2 NA19002.hp1 NA19009.hp2 NA19030.hp2 NA19057.hp2 NA19063.hp1 NA19063.hp2 NA19068.hp1 NA19081.hp1 NA19083.hp1 NA20300.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0001c0004 a0001c0005 others(6): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0001c0010 a0002c0003 a0003c0007 a0005c0015 a0006c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0004t0002 a0001c0005t0001 a0001c0005t0002 a0001c0006t0001 a0001c0010t0002 a0002c0003t0001 a0002c0003t0002 a0003c0007t0002 a0005c0015t0001 a0006c0013t0002	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 others(83): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0167 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0159 a0001c0001t0003g0121 a0001c0004t0002g0007 a0001c0005t0001g0195 a0001c0005t0002g0004 a0001c0005t0002g0187 a0001c0005t0002g0188 a0001c0005t0002g0189 a0001c0005t0002g0190 a0001c0005t0002g0191 a0001c0005t0002g0192 a0001c0005t0002g0194 a0001c0006t0001g0223 a0001c0010t0002g0024 a0002c0003t0001g0218 a0002c0003t0001g0219 a0002c0003t0002g0031 a0003c0007t0002g0148 a0005c0015t0001g0105 a0006c0013t0002g0193	86	226	0.3805	1	c.280 others(6): Show c.280-6dupT		AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	3/26					chr5	TogoVar
AP3B2_chr15_82654281_82714875	82677266	TC TC	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00323.hp1 HG00423.hp1 others(76): Show HG00140.hp1 HG00323.hp1 HG00423.hp1 HG00639.hp2 HG00673.hp2 HG01109.hp1 HG01109.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02055.hp2 HG02074.hp2 HG02080.hp1 HG02132.hp1 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02523.hp1 HG02615.hp2 HG02723.hp1 HG02735.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp2 HG03139.hp2 HG03453.hp1 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03704.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 NA18522.hp1 NA18906.hp2 NA18941.hp1 NA18945.hp2 NA18947.hp2 NA18950.hp1 NA18955.hp1 NA18962.hp1 NA18963.hp1 NA18966.hp1 NA18967.hp1 NA18979.hp1 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18998.hp1 NA19000.hp1 NA19005.hp1 NA19011.hp2 NA19012.hp1 NA19054.hp2 NA19056.hp2 NA19060.hp2 NA19065.hp1 NA19082.hp1 NA19084.hp1 NA19085.hp2 NA19088.hp1 NA19240.hp1 NA21309.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0013 a0001c0014 others(1): Show a0001c0001 a0001c0013 a0001c0014 a0007c0016	a0001c0001t0001 a0001c0013t0001 a0001c0014t0001 others(1): Show a0001c0001t0001 a0001c0013t0001 a0001c0014t0001 a0007c0016t0001	a0001c0001t0001g0027 a0001c0001t0001g0157 a0001c0001t0001g0166 others(76): Show a0001c0001t0001g0027 a0001c0001t0001g0157 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0317 a0001c0001t0001g0321 a0001c0013t0001g0212 a0001c0014t0001g0195 a0007c0016t0001g0187	79	368	0.2147	-1	c.148 others(7): Show c.1488+7delG		AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	13/26					chr15	TogoVar
AP3B2_chr15_82654281_82714875	82681025	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02895.hp2 HG03139.hp1 NA19240.hp2 HG02895.hp2 HG03139.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160	3	368	0.0082	0	c.589 others(5): Show c.589-6C>T		AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	6/26					chr15	TogoVar
AP3B2_chr15_82654281_82714875	82681112	C C	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0324 a0001c0009t0001g0324	1	368	0.0027	0	c.588 others(3): Show c.588G>C	p.Thr others(6): Show p.Thr196Thr	AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	6/27	757/3754	588/3306	196/1101		chr15	TogoVar
AP3B2_chr15_82654281_82714875	82689150	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	368	0.0027	0	c.264 others(5): Show c.264+8C>A		AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	3/26					chr15	TogoVar
AP3D1_chr19_2095988_2156566	2109964	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0277 a0002c0009t0002g0277	1	406	0.0025	0	c.326 others(6): Show c.3265-6C>T		AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	28/31					chr19	TogoVar
AP3D1_chr19_2095988_2156566	2111340	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0009 a0001c0006t0002g0009	1	406	0.0025	0	c.293 others(6): Show c.2938-8A>G		AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	25/31					chr19	TogoVar
AP3D1_chr19_2095988_2156566	2111340	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0350 a0001c0001t0003g0350	1	406	0.0025	0	c.293 others(6): Show c.2938-8A>C		AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	25/31					chr19	TogoVar
AP3D1_chr19_2095988_2156566	2115423	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0191 a0001c0003t0001g0191	1	406	0.0025	0	c.215 others(6): Show c.2150-5C>T		AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	19/31					chr19	TogoVar
AP3D1_chr19_2095988_2156566	2116282	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00323.hp1 HG00408.hp1 others(125): Show HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG01070.hp2 HG01123.hp1 HG01123.hp2 HG01433.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01928.hp2 HG01952.hp2 HG01993.hp1 HG02040.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02683.hp1 HG02698.hp2 HG02735.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG03516.hp2 HG03579.hp2 HG04204.hp1 HG06807.hp1 NA18522.hp2 NA18747.hp2 NA18940.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18955.hp1 NA18957.hp1 NA18962.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA18989.hp1 NA18990.hp1 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA19002.hp1 NA19003.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19055.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp1 NA19065.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0003 a0001c0004 a0001c0005 others(8): Show a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0011 a0001c0012 a0001c0014 a0001c0020 a0004c0013 a0006c0019	a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 others(15): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0003t0009 a0001c0004t0002 a0001c0004t0014 a0001c0005t0002 a0001c0006t0002 a0001c0006t0008 a0001c0006t0015 a0001c0008t0002 a0001c0008t0011 a0001c0011t0005 a0001c0012t0007 a0001c0014t0013 a0001c0020t0002 a0004c0013t0002 a0006c0019t0002	a0001c0003t0001g0071 a0001c0003t0001g0191 a0001c0003t0002g0024 others(125): Show a0001c0003t0001g0071 a0001c0003t0001g0191 a0001c0003t0002g0024 a0001c0003t0002g0026 a0001c0003t0002g0027 a0001c0003t0002g0028 a0001c0003t0002g0030 a0001c0003t0002g0031 a0001c0003t0002g0032 a0001c0003t0002g0034 a0001c0003t0002g0036 a0001c0003t0002g0037 a0001c0003t0002g0041 a0001c0003t0002g0042 a0001c0003t0002g0043 a0001c0003t0002g0046 a0001c0003t0002g0048 a0001c0003t0002g0050 a0001c0003t0002g0052 a0001c0003t0002g0053 a0001c0003t0002g0054 a0001c0003t0002g0073 a0001c0003t0002g0186 a0001c0003t0002g0188 a0001c0003t0002g0189 a0001c0003t0002g0190 a0001c0003t0002g0192 a0001c0003t0002g0193 a0001c0003t0002g0194 a0001c0003t0002g0195 a0001c0003t0002g0196 a0001c0003t0002g0197 a0001c0003t0002g0198 a0001c0003t0002g0199 a0001c0003t0002g0200 a0001c0003t0002g0201 a0001c0003t0002g0203 a0001c0003t0002g0208 a0001c0003t0002g0249 a0001c0003t0002g0325 a0001c0003t0002g0326 a0001c0003t0002g0327 a0001c0003t0002g0329 a0001c0003t0002g0338 a0001c0003t0002g0343 a0001c0003t0002g0344 a0001c0003t0005g0114 a0001c0003t0005g0207 a0001c0003t0005g0211 a0001c0003t0005g0212 a0001c0003t0009g0348 a0001c0003t0009g0349 a0001c0004t0002g0045 a0001c0004t0002g0051 a0001c0004t0002g0147 a0001c0004t0002g0206 a0001c0004t0002g0213 a0001c0004t0002g0214 a0001c0004t0002g0215 a0001c0004t0002g0216 a0001c0004t0002g0217 a0001c0004t0002g0218 a0001c0004t0002g0219 a0001c0004t0002g0220 a0001c0004t0002g0221 a0001c0004t0002g0222 a0001c0004t0002g0223 a0001c0004t0002g0224 a0001c0004t0002g0225 a0001c0004t0002g0226 a0001c0004t0002g0227 a0001c0004t0002g0228 a0001c0004t0002g0229 a0001c0004t0002g0230 a0001c0004t0002g0231 a0001c0004t0002g0233 a0001c0004t0002g0234 a0001c0004t0002g0235 a0001c0004t0002g0236 a0001c0004t0002g0238 a0001c0004t0002g0239 a0001c0004t0002g0240 a0001c0004t0002g0241 a0001c0004t0002g0242 a0001c0004t0002g0244 a0001c0004t0002g0246 a0001c0004t0002g0247 a0001c0004t0002g0248 a0001c0004t0014g0237 a0001c0005t0002g0018 a0001c0005t0002g0019 a0001c0005t0002g0020 a0001c0005t0002g0021 a0001c0005t0002g0022 a0001c0005t0002g0023 a0001c0005t0002g0025 a0001c0005t0002g0029 a0001c0005t0002g0033 a0001c0005t0002g0035 a0001c0005t0002g0039 a0001c0005t0002g0040 a0001c0005t0002g0044 a0001c0005t0002g0047 a0001c0006t0002g0009 a0001c0006t0002g0260 a0001c0006t0002g0308 a0001c0006t0002g0311 a0001c0006t0002g0312 a0001c0006t0002g0314 a0001c0006t0002g0317 a0001c0006t0002g0330 a0001c0006t0008g0256 a0001c0006t0008g0319 a0001c0006t0015g0384 a0001c0008t0002g0181 a0001c0008t0002g0184 a0001c0008t0002g0185 a0001c0008t0002g0253 a0001c0008t0011g0398 a0001c0008t0011g0399 a0001c0011t0005g0209 a0001c0011t0005g0210 a0001c0012t0007g0182 a0001c0012t0007g0183 a0001c0014t0013g0007 a0001c0020t0002g0232 a0004c0013t0002g0245 a0006c0019t0002g0038	128	406	0.3153	0	c.200 others(6): Show c.2002-4A>G		AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	17/31					chr19	TogoVar
AP3D1_chr19_2095988_2156566	2121317	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00735.hp1 HG01515.hp2 HG01517.hp1 others(7): Show HG00735.hp1 HG01515.hp2 HG01517.hp1 HG02735.hp2 HG03239.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03710.hp2 NA21309.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0004 a0002c0007t0004	a0002c0007t0004g0386 a0002c0007t0004g0387 a0002c0007t0004g0388 others(7): Show a0002c0007t0004g0386 a0002c0007t0004g0387 a0002c0007t0004g0388 a0002c0007t0004g0389 a0002c0007t0004g0390 a0002c0007t0004g0391 a0002c0007t0004g0392 a0002c0007t0004g0393 a0002c0007t0004g0394 a0002c0007t0004g0395	10	406	0.0246	0	c.110 others(6): Show c.1102-6G>A		AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	12/31					chr19	TogoVar
AP3D1_chr19_2095988_2156566	2121727	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02145.hp2 HG02559.hp2 NA19030.hp1 HG02145.hp2 HG02559.hp2 NA19030.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0011 a0001c0008t0002 a0001c0008t0011	a0001c0008t0002g0181 a0001c0008t0011g0398 a0001c0008t0011g0399 a0001c0008t0002g0181 a0001c0008t0011g0398 a0001c0008t0011g0399	3	406	0.0074	0	c.110 others(6): Show c.1101+7G>A		AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	12/31					chr19	TogoVar
AP3D1_chr19_2095988_2156566	2123882	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	406	0.0025	0	c.857 others(5): Show c.857-3C>T		AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	9/31					chr19	TogoVar
AP3D1_chr19_2095988_2156566	2129161	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0005 a0001c0023t0005	a0001c0023t0005g0059 a0001c0023t0005g0059	1	406	0.0025	0	c.735 others(3): Show c.735C>T	p.Phe others(6): Show p.Phe245Phe	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/32	967/5065	735/3648	245/1215		chr19	TogoVar
AP3D1_chr19_2095988_2156566	2130541	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0206 a0001c0004t0002g0206	1	406	0.0025	0	c.463 others(5): Show c.463-4G>A		AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	5/31					chr19	TogoVar
AP3D1_chr19_2095988_2156566	2138720	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	406	0.0025	0	c.97- others(4): Show c.97-6T>C		AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	1/31					chr19	TogoVar
AP3M2_chr8_42148063_42176183	42153111	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp1 HG02622.hp1 HG02723.hp2 others(1): Show HG01891.hp1 HG02622.hp1 HG02723.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0027 a0001c0001t0004g0157 a0001c0001t0004g0027 a0001c0001t0004g0157	4	392	0.0102	0	c.-73 others(5): Show c.-73+6G>T		AP3M2	ENSG00000070718.13	transcript	ENST00000396926.8	protein_coding	1/8					chr8	TogoVar
AP3M2_chr8_42148063_42176183	42158120	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02559.hp2 HG02622.hp2 HG02922.hp2 others(3): Show HG02559.hp2 HG02622.hp2 HG02922.hp2 HG03579.hp2 NA18522.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0028 a0001c0001t0009g0029 a0001c0001t0009g0047 others(1): Show a0001c0001t0009g0028 a0001c0001t0009g0029 a0001c0001t0009g0047 a0001c0001t0009g0048	6	392	0.0153	0	c.445 others(5): Show c.445+8A>G		AP3M2	ENSG00000070718.13	transcript	ENST00000396926.8	protein_coding	3/8					chr8	TogoVar
AP3S1_chr5_115836935_115919081	115895080	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	378	0.0027	0	c.274 others(5): Show c.274-7T>C		AP3S1	ENSG00000177879.17	transcript	ENST00000316788.12	protein_coding	3/5					chr5	TogoVar
AP3S1_chr5_115836935_115919081	115913362	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03130.hp1 NA18906.hp1 HG03130.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0229 a0002c0002t0001g0230	2	378	0.0053	0	c.454 others(3): Show c.454G>A	p.Ala others(6): Show p.Ala152Thr	AP3S1	ENSG00000177879.17	transcript	ENST00000316788.12	protein_coding	6/6	557/1276	454/582	152/193		chr5	TogoVar
AP4E1_chr15_50903683_51010895	50948016	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19002.hp1 NA19002.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0053 a0002c0002t0002g0053	1	392	0.0026	0	c.117 others(6): Show c.1177-4A>G		AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	10/20					chr15	TogoVar
AP4E1_chr15_50903683_51010895	50999064	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01167.hp1 HG02109.hp1 HG02486.hp1 others(4): Show HG01167.hp1 HG02109.hp1 HG02486.hp1 HG02615.hp1 HG03516.hp2 HG06807.hp2 NA20129.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0186 a0002c0003t0006g0187 a0002c0003t0006g0188 others(4): Show a0002c0003t0006g0186 a0002c0003t0006g0187 a0002c0003t0006g0188 a0002c0003t0006g0189 a0002c0003t0006g0190 a0002c0003t0006g0191 a0002c0003t0006g0192	7	392	0.0179	0	c.290 others(6): Show c.2905-8A>G		AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	18/20					chr15	TogoVar
AP5M1_chr14_57263971_57303742	57274246	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03195.hp1 NA18522.hp2 HG03195.hp1 NA18522.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0002 a0006c0007t0002	a0006c0007t0002g0003 a0006c0007t0002g0004 a0006c0007t0002g0003 a0006c0007t0002g0004	2	280	0.0071	0	c.77G others(2): Show c.77G>A	p.Arg others(5): Show p.Arg26Gln	AP5M1	ENSG00000053770.12	transcript	ENST00000261558.8	protein_coding	2/8	421/11675	77/1473	26/490		chr14	TogoVar
AP5M1_chr14_57263971_57303742	57286319	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0003 a0007c0008t0003	a0007c0008t0003g0020 a0007c0008t0003g0020	2	280	0.0071	0	c.139 others(4): Show c.1390C>T	p.His others(6): Show p.His464Tyr	AP5M1	ENSG00000053770.12	transcript	ENST00000261558.8	protein_coding	7/8	1734/11675	1390/1473	464/490		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	0	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	4783682	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01070.hp2 HG01071.hp1 HG01243.hp1 others(41): Show HG01070.hp2 HG01071.hp1 HG01243.hp1 HG01243.hp2 HG01891.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG03041.hp1 HG03130.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03579.hp2 NA18906.hp1 NA18906.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA21309.hp1	a0001 a0003 a0005 others(4): Show a0001 a0003 a0005 a0007 a0010 a0011 a0015	a0001c0001 a0001c0002 a0003c0004 others(6): Show a0001c0001 a0001c0002 a0003c0004 a0005c0008 a0007c0011 a0007c0018 a0010c0012 a0011c0013 a0015c0029	a0001c0001t0035 a0001c0002t0002 a0001c0002t0003 others(11): Show a0001c0001t0035 a0001c0002t0002 a0001c0002t0003 a0001c0002t0018 a0001c0002t0031 a0003c0004t0004 a0003c0004t0007 a0005c0008t0013 a0007c0011t0007 a0007c0018t0019 a0010c0012t0007 a0011c0013t0021 a0011c0013t0045 a0015c0029t0020	a0001c0001t0035g0167 a0001c0002t0002g0007 a0001c0002t0003g0007 others(24): Show a0001c0001t0035g0167 a0001c0002t0002g0007 a0001c0002t0003g0007 a0001c0002t0003g0008 a0001c0002t0003g0073 a0001c0002t0003g0075 a0001c0002t0003g0076 a0001c0002t0018g0071 a0001c0002t0018g0072 a0001c0002t0031g0060 a0003c0004t0004g0004 a0003c0004t0004g0016 a0003c0004t0004g0056 a0003c0004t0004g0068 a0003c0004t0004g0069 a0003c0004t0004g0070 a0003c0004t0007g0017 a0003c0004t0007g0077 a0003c0004t0007g0101 a0005c0008t0013g0033 a0005c0008t0013g0092 a0007c0011t0007g0028 a0007c0018t0019g0054 a0010c0012t0007g0004 a0011c0013t0021g0030 a0011c0013t0045g0030 a0015c0029t0020g0082	44	340	0.1294	0	c.512 others(5): Show c.512-7A>G		AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	4/16					chr7	TogoVar
AP5Z1_chr7_4770623_4799397	4784903	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03579.hp2 NA21309.hp1 HG03579.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0031 a0001c0002t0003 a0001c0002t0031	a0001c0002t0003g0075 a0001c0002t0031g0060 a0001c0002t0003g0075 a0001c0002t0031g0060	2	340	0.0059	0	c.791 others(5): Show c.791-5C>T		AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	6/16					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	0	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	4788959	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01358.hp1 HG01358.hp1	a0008 a0008	a0008c0034 a0008c0034	a0008c0034t0001 a0008c0034t0001	a0008c0034t0001g0158 a0008c0034t0001g0158	1	340	0.0029	0	c.170 others(6): Show c.1707+8C>T		AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	13/16					chr7	TogoVar
AP5Z1_chr7_4770623_4799397	4789827	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0065 a0002c0003t0002g0065	1	340	0.0029	0	c.170 others(6): Show c.1708-5C>T		AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	13/16					chr7	TogoVar
APAF1_chr12_98640290_98740433	98683140	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp1 HG01884.hp2 HG02486.hp2 others(1): Show HG01109.hp1 HG01884.hp2 HG02486.hp2 NA19240.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0007 a0001c0001 a0009c0007	a0001c0001t0013 a0009c0007t0029 a0001c0001t0013 a0009c0007t0029	a0001c0001t0013g0301 a0001c0001t0013g0302 a0001c0001t0013g0303 others(1): Show a0001c0001t0013g0301 a0001c0001t0013g0302 a0001c0001t0013g0303 a0009c0007t0029g0304	4	366	0.0109	0	c.204 others(6): Show c.2047-3T>C		APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	14/26					chr12	TogoVar
APAF1_chr12_98640290_98740433	98723619	G G	GT GT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp2 HG00408.hp2 HG00558.hp2 others(67): Show HG00280.hp2 HG00408.hp2 HG00558.hp2 HG00639.hp2 HG00738.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01516.hp1 HG01517.hp2 HG02071.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp2 HG02523.hp2 HG02572.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03688.hp1 HG03688.hp2 HG03927.hp2 NA18942.hp2 NA18945.hp2 NA18948.hp2 NA18950.hp2 NA18955.hp1 NA18962.hp2 NA18963.hp2 NA18966.hp1 NA18968.hp1 NA18975.hp2 NA18978.hp1 NA18985.hp2 NA18986.hp1 NA18987.hp2 NA18994.hp2 NA19000.hp1 NA19007.hp1 NA19009.hp2 NA19043.hp2 NA19065.hp1 NA19082.hp1 NA19083.hp2 NA19085.hp2 NA19086.hp1 NA19090.hp1 NA20300.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0005c0008 a0007c0011 a0001c0001 a0005c0008 a0007c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0017 a0001c0001t0024 a0001c0001t0026 a0001c0001t0039 a0005c0008t0011 a0007c0011t0025	a0001c0001t0001g0056 a0001c0001t0001g0119 a0001c0001t0001g0121 others(67): Show a0001c0001t0001g0056 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0003g0125 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0139 a0001c0001t0003g0141 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0152 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0161 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0170 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0175 a0001c0001t0003g0224 a0001c0001t0004g0126 a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0190 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0004g0205 a0001c0001t0011g0132 a0001c0001t0011g0135 a0001c0001t0011g0140 a0001c0001t0017g0202 a0001c0001t0017g0203 a0001c0001t0024g0162 a0001c0001t0026g0151 a0001c0001t0039g0008 a0005c0008t0011g0142 a0007c0011t0025g0204	70	366	0.1913	1	c.320 others(7): Show c.3205-4dupT		APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	23/26				INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98723619	GT GT	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp2 HG00408.hp1 HG00621.hp2 others(52): Show HG00323.hp2 HG00408.hp1 HG00621.hp2 HG00642.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01257.hp1 HG01346.hp1 HG01433.hp1 HG01952.hp1 HG02015.hp2 HG02056.hp1 HG02080.hp2 HG02135.hp2 HG02148.hp2 HG02273.hp1 HG02572.hp1 HG02698.hp1 HG02818.hp1 HG03239.hp2 HG03490.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG04199.hp2 HG04228.hp2 NA18747.hp2 NA18942.hp1 NA18946.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18954.hp2 NA18959.hp1 NA18963.hp1 NA18968.hp2 NA18970.hp2 NA18972.hp1 NA18978.hp2 NA18979.hp1 NA18989.hp1 NA18991.hp1 NA18993.hp1 NA19002.hp1 NA19005.hp2 NA19043.hp1 NA19056.hp1 NA19057.hp2 NA19063.hp2 NA19078.hp1 NA19081.hp1 NA19082.hp2 NA19086.hp2 NA19090.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0013 a0003c0005 a0001c0001 a0001c0013 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0021 a0001c0001t0038 a0001c0013t0006 a0003c0005t0007	a0001c0001t0001g0077 a0001c0001t0002g0209 a0001c0001t0002g0221 others(52): Show a0001c0001t0001g0077 a0001c0001t0002g0209 a0001c0001t0002g0221 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0347 a0001c0001t0002g0348 a0001c0001t0002g0349 a0001c0001t0006g0124 a0001c0001t0006g0138 a0001c0001t0006g0150 a0001c0001t0006g0157 a0001c0001t0006g0160 a0001c0001t0006g0163 a0001c0001t0006g0164 a0001c0001t0006g0165 a0001c0001t0006g0166 a0001c0001t0006g0169 a0001c0001t0006g0171 a0001c0001t0006g0174 a0001c0001t0006g0223 a0001c0001t0006g0322 a0001c0001t0007g0065 a0001c0001t0007g0250 a0001c0001t0021g0350 a0001c0001t0038g0320 a0001c0013t0006g0153 a0003c0005t0007g0219 a0003c0005t0007g0220	55	366	0.1503	-1	c.320 others(7): Show c.3205-4delT		APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	23/26				INFO_REALIGN_3_PRIME	chr12	TogoVar
APBA1_chr9_69422532_69677371	69432683	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00423.hp2 HG00609.hp2 HG01070.hp2 others(53): Show HG00423.hp2 HG00609.hp2 HG01070.hp2 HG01071.hp2 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01884.hp2 HG02055.hp1 HG02074.hp1 HG02135.hp1 HG02145.hp2 HG02155.hp1 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02630.hp2 HG02683.hp1 HG02818.hp2 HG02886.hp1 HG02897.hp2 HG02965.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp1 HG03491.hp2 HG03654.hp2 HG03704.hp1 HG03710.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18906.hp1 NA18944.hp2 NA18946.hp2 NA18960.hp1 NA18961.hp1 NA18964.hp2 NA18966.hp2 NA18998.hp1 NA18999.hp2 NA19004.hp2 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0004c0003	a0001c0001t0002 a0001c0001t0010 a0001c0001t0013 others(5): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0031 a0001c0004t0002 a0002c0002t0002 a0004c0003t0002	a0001c0001t0002g0018 a0001c0001t0002g0034 a0001c0001t0002g0036 others(53): Show a0001c0001t0002g0018 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0170 a0001c0001t0002g0185 a0001c0001t0002g0196 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0010g0100 a0001c0001t0010g0106 a0001c0001t0010g0168 a0001c0001t0013g0010 a0001c0001t0013g0016 a0001c0001t0015g0020 a0001c0001t0015g0054 a0001c0001t0031g0063 a0001c0004t0002g0126 a0002c0002t0002g0023 a0002c0002t0002g0046 a0002c0002t0002g0081 a0002c0002t0002g0137 a0004c0003t0002g0177	56	210	0.2667	0	c.230 others(6): Show c.2302-7C>T		APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	11/12					chr9	TogoVar

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