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	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
AP2B1_chr17_35582322_35731413	35638789	GAA GAA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02015.hp2 HG02155.hp2 others(6): Show HG01070.hp1 HG02015.hp2 HG02155.hp2 HG02922.hp2 HG02976.hp2 NA18522.hp2 NA18949.hp2 NA18953.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001	a0001c0001t0002g0068 a0001c0001t0002g0176 a0001c0001t0002g0369 others(6): Show a0001c0001t0002g0068 a0001c0001t0002g0176 a0001c0001t0002g0369 a0001c0001t0003g0041 a0001c0001t0008g0058 a0001c0002t0001g0219 a0001c0002t0001g0279 a0001c0002t0002g0263 a0001c0003t0001g0213	9	372	0.0242	-2	c.127 others(19): Show c.1272-789_1272-788delAA	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
AP2B1_chr17_35582322_35731413	35654876	TGC TGC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01361.hp1 HG02723.hp1 others(1): Show HG01109.hp2 HG01361.hp1 HG02723.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 others(1): Show a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0015g0129	4	372	0.0108	-2	c.179 others(21): Show c.1797-2722_1797-2721delGC	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	13/21			chr17	TogoVar
AP2B1_chr17_35582322_35731413	35662306	CTT CTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp2 HG00544.hp1 others(54): Show HG00323.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00735.hp1 HG01069.hp1 HG01070.hp2 HG01106.hp2 HG01123.hp1 HG01192.hp2 HG01257.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02040.hp2 HG02257.hp1 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 NA19066.hp2 NA19077.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19084.hp2 NA19086.hp1 NA19089.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0018 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0018 a0001c0001t0019	a0001c0001t0002g0001 a0001c0001t0002g0053 a0001c0001t0002g0063 others(53): 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 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0006g0062 a0001c0001t0006g0066 a0001c0001t0006g0067 a0001c0001t0006g0069 a0001c0001t0006g0070 a0001c0001t0006g0071 a0001c0001t0006g0072 a0001c0001t0006g0076 a0001c0001t0006g0085 a0001c0001t0006g0119 a0001c0001t0006g0184 a0001c0001t0006g0185 a0001c0001t0006g0317 a0001c0001t0018g0077 a0001c0001t0019g0089	57	372	0.1532	-2	c.198 others(21): Show c.1989+4518_1989+4519delTT	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	14/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
AP2B1_chr17_35582322_35731413	35666037	CTT CTT	C C	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18987.hp1 NA18994.hp1 others(3): Show NA18943.hp2 NA18987.hp1 NA18994.hp1 NA19079.hp2 NA19080.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 others(3): Show a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0096 a0001c0001t0002g0108	6	372	0.0161	-2	c.199 others(21): Show c.1990-4819_1990-4818delTT	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	14/21			chr17	TogoVar
AP2B1_chr17_35582322_35731413	35666236	CCT CCT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01891.hp2 HG02109.hp1 others(1): Show HG00673.hp1 HG01891.hp2 HG02109.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0017 a0001c0002t0001 a0001c0001t0017 a0001c0002t0001	a0001c0001t0017g0024 a0001c0002t0001g0258 a0001c0002t0001g0259 others(1): Show a0001c0001t0017g0024 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0274	4	372	0.0108	-2	c.199 others(21): Show c.1990-4620_1990-4619delCT	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	14/21			chr17	TogoVar
AP2B1_chr17_35582322_35731413	35666274	GAC GAC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp2 HG00673.hp2 others(38): Show HG00099.hp1 HG00544.hp2 HG00673.hp2 HG00741.hp1 HG01261.hp1 HG01943.hp2 HG01981.hp1 HG02027.hp1 HG02135.hp1 HG02451.hp2 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02818.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 NA18612.hp1 NA18942.hp1 NA18946.hp2 NA18954.hp2 NA18959.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18967.hp2 NA18968.hp1 NA18973.hp2 NA18977.hp1 NA18986.hp1 NA18988.hp1 NA18991.hp1 NA18995.hp2 NA18998.hp1 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19065.hp1 NA19068.hp1 NA19087.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0004 a0001c0001t0009 a0001c0001t0016 others(1): Show a0001c0001t0004 a0001c0001t0009 a0001c0001t0016 a0001c0006t0004	a0001c0001t0004g0160 a0001c0001t0004g0318 a0001c0001t0004g0320 others(38): Show a0001c0001t0004g0160 a0001c0001t0004g0318 a0001c0001t0004g0320 a0001c0001t0004g0321 a0001c0001t0004g0322 a0001c0001t0004g0323 a0001c0001t0004g0324 a0001c0001t0004g0325 a0001c0001t0004g0326 a0001c0001t0004g0327 a0001c0001t0004g0328 a0001c0001t0004g0329 a0001c0001t0004g0330 a0001c0001t0004g0331 a0001c0001t0004g0332 a0001c0001t0004g0333 a0001c0001t0004g0334 a0001c0001t0004g0335 a0001c0001t0004g0336 a0001c0001t0004g0337 a0001c0001t0004g0338 a0001c0001t0004g0339 a0001c0001t0004g0341 a0001c0001t0004g0342 a0001c0001t0004g0343 a0001c0001t0004g0344 a0001c0001t0004g0345 a0001c0001t0004g0346 a0001c0001t0004g0347 a0001c0001t0004g0349 a0001c0001t0004g0352 a0001c0001t0004g0353 a0001c0001t0004g0354 a0001c0001t0004g0355 a0001c0001t0004g0356 a0001c0001t0009g0161 a0001c0001t0009g0162 a0001c0001t0009g0163 a0001c0001t0009g0164 a0001c0001t0016g0052 a0001c0006t0004g0061	41	372	0.1102	-2	c.199 others(21): Show c.1990-4579_1990-4578delCA	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	14/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
AP2B1_chr17_35582322_35731413	35675823	CTA CTA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp1 HG00673.hp1 others(42): Show HG00323.hp2 HG00558.hp1 HG00673.hp1 HG01070.hp1 HG01071.hp1 HG02015.hp1 HG02027.hp2 HG02056.hp1 HG02071.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02155.hp1 HG02165.hp2 HG03490.hp1 HG03669.hp1 HG03688.hp2 HG04199.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18946.hp1 NA18954.hp1 NA18955.hp2 NA18960.hp2 NA18964.hp2 NA18965.hp2 NA18968.hp2 NA18972.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18984.hp2 NA18990.hp1 NA18991.hp2 NA18998.hp2 NA19000.hp1 NA19001.hp2 NA19007.hp2 NA19060.hp2 NA19068.hp2 NA19083.hp1 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0003 a0001c0001t0017 a0002c0007t0003 a0001c0001t0003 a0001c0001t0017 a0002c0007t0003	a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0008 others(42): Show a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0017g0024 a0002c0007t0003g0045	45	372	0.1210	-2	c.232 others(21): Show c.2324+1503_2324+1504delTA	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	17/21			chr17	TogoVar
AP2B1_chr17_35582322_35731413	35677860	GTT GTT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp1 HG02976.hp2 others(4): Show HG01884.hp2 HG02258.hp1 HG02976.hp2 HG03130.hp1 HG03540.hp1 NA19001.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0063 a0001c0001t0002g0081 a0001c0001t0008g0054 others(4): Show a0001c0001t0002g0063 a0001c0001t0002g0081 a0001c0001t0008g0054 a0001c0001t0008g0055 a0001c0001t0008g0056 a0001c0001t0008g0057 a0001c0001t0008g0058	7	372	0.0188	-2	c.232 others(21): Show c.2324+3554_2324+3555delTT	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
AP2B1_chr17_35582322_35731413	35679742	CTG CTG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01361.hp1 HG02723.hp1 others(1): Show HG01109.hp2 HG01361.hp1 HG02723.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 others(1): Show a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0015g0129	4	372	0.0108	-2	c.232 others(21): Show c.2325-2950_2325-2949delTG	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
AP2B1_chr17_35582322_35731413	35679927	CTT CTT	C C	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01884.hp2 HG02155.hp1 others(10): Show HG01517.hp1 HG01884.hp2 HG02155.hp1 HG02258.hp1 HG02622.hp1 HG02895.hp2 HG02976.hp2 HG03130.hp1 HG03516.hp2 HG03540.hp1 NA18942.hp2 NA18956.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0002t0001 a0001c0002t0011	a0001c0001t0002g0105 a0001c0001t0003g0049 a0001c0001t0007g0004 others(10): Show a0001c0001t0002g0105 a0001c0001t0003g0049 a0001c0001t0007g0004 a0001c0001t0007g0005 a0001c0001t0008g0054 a0001c0001t0008g0055 a0001c0001t0008g0056 a0001c0001t0008g0057 a0001c0001t0008g0058 a0001c0001t0008g0059 a0001c0002t0001g0229 a0001c0002t0001g0239 a0001c0002t0011g0231	13	372	0.0350	-2	c.232 others(21): Show c.2325-2753_2325-2752delTT	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
AP2B1_chr17_35582322_35731413	35682331	CCT CCT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG00597.hp2 others(45): Show HG00323.hp1 HG00544.hp1 HG00597.hp2 HG01069.hp1 HG01070.hp2 HG01081.hp2 HG01123.hp1 HG01243.hp2 HG01257.hp1 HG01978.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02040.hp2 HG02257.hp1 HG02809.hp1 HG03225.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03704.hp1 HG03710.hp1 HG03942.hp1 NA18944.hp1 NA18948.hp2 NA18949.hp1 NA18953.hp1 NA18955.hp1 NA18956.hp2 NA18975.hp1 NA18983.hp2 NA18986.hp2 NA18987.hp1 NA18992.hp2 NA18994.hp1 NA19001.hp1 NA19002.hp2 NA19004.hp1 NA19007.hp1 NA19012.hp2 NA19043.hp2 NA19066.hp2 NA19077.hp1 NA19080.hp2 NA19081.hp1 NA19084.hp2 NA19086.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0018 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0018 a0001c0001t0019	a0001c0001t0002g0001 a0001c0001t0002g0053 a0001c0001t0002g0063 others(44): Show a0001c0001t0002g0001 a0001c0001t0002g0053 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0068 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0118 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0006g0062 a0001c0001t0006g0066 a0001c0001t0006g0067 a0001c0001t0006g0070 a0001c0001t0006g0071 a0001c0001t0006g0076 a0001c0001t0006g0085 a0001c0001t0006g0119 a0001c0001t0006g0185 a0001c0001t0006g0317 a0001c0001t0018g0077 a0001c0001t0019g0089	48	372	0.1290	-2	c.232 others(19): Show c.2325-361_2325-360delCT	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
AP2B1_chr17_35582322_35731413	35688441	ACT ACT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01361.hp1 HG02723.hp1 HG01109.hp2 HG01361.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0015g0129 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0015g0129	3	372	0.0081	-2	c.245 others(21): Show c.2454+5620_2454+5621delCT	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
AP2B1_chr17_35582322_35731413	35718176	ACT ACT	A A	intron_variant intron_variant	MODIFIER	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	-2	c.278 others(19): Show c.2781+830_2781+831delCT	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
AP2B1_chr17_35582322_35731413	35718312	CTG CTG	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp2 HG01070.hp2 others(37): Show HG00438.hp2 HG00597.hp2 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01109.hp2 HG01192.hp2 HG01361.hp1 HG01978.hp2 HG02165.hp1 HG02451.hp2 HG02572.hp1 HG02698.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG03453.hp2 HG03579.hp1 NA18906.hp1 NA18940.hp2 NA18948.hp1 NA18949.hp1 NA18955.hp1 NA18956.hp2 NA18967.hp2 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18983.hp1 NA18991.hp1 NA18994.hp2 NA18998.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19054.hp2 NA19063.hp1 NA19065.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0015 a0001c0002t0001 a0001c0004t0002	a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0002g0073 others(37): Show a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0002g0073 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0117 a0001c0001t0002g0120 a0001c0001t0002g0183 a0001c0001t0004g0318 a0001c0001t0004g0320 a0001c0001t0004g0328 a0001c0001t0004g0337 a0001c0001t0004g0338 a0001c0001t0004g0339 a0001c0001t0004g0346 a0001c0001t0004g0347 a0001c0001t0004g0349 a0001c0001t0004g0352 a0001c0001t0006g0184 a0001c0001t0006g0185 a0001c0001t0009g0163 a0001c0001t0015g0129 a0001c0002t0001g0187 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0203 a0001c0002t0001g0209 a0001c0002t0001g0230 a0001c0002t0001g0238 a0001c0002t0001g0249 a0001c0002t0001g0298 a0001c0002t0001g0313 a0001c0002t0001g0316 a0001c0002t0001g0366 a0001c0002t0001g0367 a0001c0004t0002g0168	40	372	0.1075	-2	c.278 others(21): Show c.2781+1008_2781+1009delTG	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
AP2B1_chr17_35582322_35731413	35718663	CAT CAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(25): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00639.hp1 HG00741.hp2 HG01168.hp1 HG01256.hp2 HG01258.hp1 HG01515.hp2 HG01952.hp1 HG02004.hp2 HG02074.hp2 HG02273.hp1 HG02602.hp1 HG02698.hp1 HG03017.hp1 HG03490.hp2 HG03492.hp2 HG03654.hp2 HG03688.hp1 HG03831.hp2 HG03942.hp2 NA18971.hp1 NA18989.hp1 NA19063.hp2 NA19085.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0020 a0001c0001t0021 a0001c0001t0005 a0001c0001t0020 a0001c0001t0021	a0001c0001t0005g0130 a0001c0001t0005g0131 a0001c0001t0005g0132 others(25): Show a0001c0001t0005g0130 a0001c0001t0005g0131 a0001c0001t0005g0132 a0001c0001t0005g0133 a0001c0001t0005g0134 a0001c0001t0005g0135 a0001c0001t0005g0136 a0001c0001t0005g0138 a0001c0001t0005g0139 a0001c0001t0005g0140 a0001c0001t0005g0141 a0001c0001t0005g0142 a0001c0001t0005g0143 a0001c0001t0005g0144 a0001c0001t0005g0145 a0001c0001t0005g0146 a0001c0001t0005g0147 a0001c0001t0005g0148 a0001c0001t0005g0149 a0001c0001t0005g0150 a0001c0001t0005g0151 a0001c0001t0005g0152 a0001c0001t0005g0154 a0001c0001t0005g0155 a0001c0001t0005g0156 a0001c0001t0005g0157 a0001c0001t0020g0153 a0001c0001t0021g0137	28	372	0.0753	-2	c.278 others(21): Show c.2781+1316_2781+1317delTA	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
AP2B1_chr17_35582322_35731413	35720545	TTA TTA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01993.hp2 HG02074.hp1 others(9): Show HG01891.hp2 HG01993.hp2 HG02074.hp1 HG02109.hp1 HG02451.hp1 HG02896.hp1 HG03453.hp1 HG03669.hp2 NA18906.hp2 NA18943.hp1 NA18971.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0014 a0001c0001t0002 a0001c0002t0001 a0001c0002t0014	a0001c0001t0002g0360 a0001c0001t0002g0361 a0001c0002t0001g0198 others(9): Show a0001c0001t0002g0360 a0001c0001t0002g0361 a0001c0002t0001g0198 a0001c0002t0001g0234 a0001c0002t0001g0258 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0264 a0001c0002t0001g0274 a0001c0002t0001g0290 a0001c0002t0001g0315 a0001c0002t0014g0286	12	372	0.0323	-2	c.278 others(21): Show c.2782-3052_2782-3051delAT	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
AP2M1_chr3_184169855_184189091	184173319	ACT ACT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01891.hp2 HG03195.hp2 others(3): Show HG01109.hp1 HG01891.hp2 HG03195.hp2 HG03225.hp2 HG03486.hp1 NA20129.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0016 a0001c0004t0004g0016	6	422	0.0142	-2	c.-16 others(13): Show c.-1683_-1682delCT	AP2M1	ENSG00000161203.14	transcript	ENST00000292807.9	protein_coding		1535		chr3	TogoVar
AP2M1_chr3_184169855_184189091	184174585	GAA GAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00438.hp2 others(96): Show HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00597.hp1 HG00609.hp1 HG00639.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01169.hp1 HG01256.hp2 HG01258.hp2 HG01358.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp2 HG02074.hp1 HG02109.hp2 HG02148.hp2 HG02155.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02683.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp2 NA18955.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18993.hp2 NA18994.hp1 NA19009.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19066.hp2 NA19076.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20752.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(22): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0086 a0001c0001t0005g0001 a0001c0002t0001g0047 a0001c0002t0001g0052 a0001c0003t0001g0023	99	422	0.2346	-2	c.-41 others(11): Show c.-417_-416delAA	AP2M1	ENSG00000161203.14	transcript	ENST00000292807.9	protein_coding		269		chr3	TogoVar
AP2M1_chr3_184169855_184189091	184184914	TAA TAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01496.hp2 HG01891.hp2 others(8): Show HG01109.hp1 HG01496.hp2 HG01891.hp2 HG02015.hp2 HG03195.hp2 HG03225.hp2 HG03486.hp1 NA18946.hp2 NA18957.hp1 NA20129.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0001 a0001c0004t0004 a0001c0001t0001 a0001c0003t0001 a0001c0004t0004	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0003t0001g0006 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0003t0001g0006 a0001c0003t0001g0020 a0001c0004t0004g0016	11	422	0.0261	-2	c.12 others(13): Show c.1299_*1300delAA	AP2M1	ENSG00000161203.14	transcript	ENST00000292807.9	protein_coding		824		chr3	TogoVar
AP2S1_chr19_46833167_46855846	46839826	TGA TGA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00642.hp1 others(57): Show HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG00741.hp1 HG01106.hp1 HG01106.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp2 HG02976.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03704.hp1 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18941.hp1 NA18991.hp2 NA19063.hp2 NA19070.hp2 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0076 others(50): Show a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0160 a0001c0001t0001g0176 a0001c0001t0001g0189 a0001c0001t0001g0208 a0001c0001t0001g0215 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0231 a0001c0001t0001g0235 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0261 a0001c0001t0001g0279 a0001c0001t0001g0284 a0001c0001t0001g0292 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0032 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0062 a0001c0001t0002g0103 a0001c0001t0002g0108 a0001c0001t0002g0119 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0137 a0001c0001t0002g0207 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0251 a0001c0001t0002g0256 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0265 a0001c0001t0002g0275 a0001c0001t0002g0280 a0001c0001t0002g0293 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0310 a0001c0001t0002g0317 a0001c0001t0002g0318	60	424	0.1415	-2	c.154 others(17): Show c.154-250_154-249delTC	AP2S1	ENSG00000042753.12	transcript	ENST00000263270.11	protein_coding	2/4			chr19	TogoVar
AP2S1_chr19_46833167_46855846	46846441	GTT GTT	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02080.hp2 NA18947.hp2 others(4): Show HG00597.hp1 HG02080.hp2 NA18947.hp2 NA18984.hp2 NA19009.hp2 NA19064.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0193 a0001c0001t0001g0194 others(3): Show a0001c0001t0001g0041 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0285	7	424	0.0165	-2	c.4-3 others(13): Show c.4-301_4-300delAA	AP2S1	ENSG00000042753.12	transcript	ENST00000263270.11	protein_coding	1/4			chr19	TogoVar
AP2S1_chr19_46833167_46855846	46849403	AAC AAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00408.hp1 others(157): Show HG00099.hp1 HG00280.hp1 HG00408.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18943.hp1 NA18949.hp1 NA18950.hp2 NA18961.hp2 NA18964.hp2 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18975.hp2 NA18977.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18994.hp2 NA19002.hp2 NA19004.hp2 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19057.hp2 NA19066.hp1 NA19070.hp2 NA19087.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0010 others(111): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0062 a0001c0001t0002g0207 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0251 a0001c0001t0002g0256 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0275 a0001c0001t0002g0280 a0001c0001t0002g0318 a0001c0001t0004g0212 a0001c0001t0005g0230 a0001c0001t0005g0255	160	424	0.3774	-2	c.3+1 others(15): Show c.3+1359_3+1360delGT	AP2S1	ENSG00000042753.12	transcript	ENST00000263270.11	protein_coding	1/4			chr19	TogoVar
AP2S1_chr19_46833167_46855846	46855092	CAA CAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG03834.hp2 NA18951.hp2 others(3): Show HG02717.hp2 HG03834.hp2 NA18951.hp2 NA19056.hp1 NA19063.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0123 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0123 a0001c0001t0001g0146 a0001c0001t0002g0032 a0001c0001t0002g0108	6	424	0.0142	-2	c.-43 others(13): Show c.-4328_-4327delTT	AP2S1	ENSG00000042753.12	transcript	ENST00000263270.11	protein_coding		4247		chr19	TogoVar
AP3B1_chr5_77997326_78299698	78055016	GAC GAC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00408.hp2 others(34): Show HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00597.hp1 HG00735.hp2 HG01070.hp2 HG01168.hp2 HG01358.hp1 HG01934.hp2 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02074.hp1 HG02083.hp1 HG02602.hp2 HG02922.hp2 HG03453.hp1 HG03486.hp2 HG03516.hp1 HG03654.hp2 HG03834.hp1 HG03834.hp2 HG04199.hp1 NA18906.hp1 NA18956.hp1 NA18971.hp2 NA18989.hp2 NA18990.hp1 NA18998.hp1 NA19002.hp2 NA19009.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19083.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0002t0002 a0001c0004t0002 others(2): Show a0001c0001t0001 a0001c0002t0002 a0001c0004t0002 a0002c0003t0001 a0002c0003t0002	a0001c0001t0001g0042 a0001c0001t0001g0075 a0001c0001t0001g0098 others(34): Show a0001c0001t0001g0042 a0001c0001t0001g0075 a0001c0001t0001g0098 a0001c0001t0001g0111 a0001c0001t0001g0126 a0001c0001t0001g0173 a0001c0001t0001g0198 a0001c0001t0001g0202 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0002t0002g0158 a0001c0004t0002g0002 a0002c0003t0001g0010 a0002c0003t0001g0045 a0002c0003t0001g0046 a0002c0003t0001g0047 a0002c0003t0001g0049 a0002c0003t0001g0052 a0002c0003t0001g0053 a0002c0003t0001g0054 a0002c0003t0001g0057 a0002c0003t0001g0059 a0002c0003t0001g0061 a0002c0003t0001g0065 a0002c0003t0001g0066 a0002c0003t0001g0067 a0002c0003t0001g0069 a0002c0003t0001g0070 a0002c0003t0001g0073 a0002c0003t0001g0086 a0002c0003t0001g0088 a0002c0003t0001g0090 a0002c0003t0001g0092 a0002c0003t0002g0031 a0002c0003t0002g0058	37	226	0.1637	-2	c.257 others(23): Show c.2578-15744_2578-15743delGT	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	22/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78072712	CTT CTT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02602.hp1 HG02723.hp1 others(10): Show HG01496.hp1 HG02602.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02895.hp1 HG03130.hp1 HG03139.hp1 HG03540.hp1 NA18522.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0012 a0003c0007 a0003c0008 a0007c0014	a0001c0001t0002 a0001c0002t0002 a0001c0004t0002 others(4): Show a0001c0001t0002 a0001c0002t0002 a0001c0004t0002 a0001c0012t0001 a0003c0007t0002 a0003c0008t0002 a0007c0014t0002	a0001c0001t0002g0011 a0001c0002t0002g0176 a0001c0004t0002g0186 others(10): Show a0001c0001t0002g0011 a0001c0002t0002g0176 a0001c0004t0002g0186 a0001c0012t0001g0142 a0003c0007t0002g0072 a0003c0007t0002g0079 a0003c0007t0002g0081 a0003c0007t0002g0140 a0003c0007t0002g0141 a0003c0007t0002g0148 a0003c0008t0002g0036 a0003c0008t0002g0038 a0007c0014t0002g0196	13	226	0.0575	-2	c.257 others(23): Show c.2577+16679_2577+16680delAA	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	22/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78110684	CTG CTG	C C	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18990.hp2 NA18992.hp1 others(1): Show NA18947.hp1 NA18990.hp2 NA18992.hp1 NA19070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0002g0170 others(1): Show a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0002g0170 a0001c0002t0002g0172	4	226	0.0177	-2	c.225 others(19): Show c.2250-332_2250-331delCA	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	19/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78142638	TAA TAA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00597.hp2 HG00639.hp1 others(70): Show HG00280.hp2 HG00597.hp2 HG00639.hp1 HG00642.hp2 HG00735.hp1 HG00741.hp2 HG01070.hp1 HG01106.hp1 HG01168.hp1 HG01175.hp1 HG01361.hp2 HG01515.hp1 HG01884.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp2 HG02055.hp2 HG02083.hp2 HG02148.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02602.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03453.hp1 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG04199.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp2 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 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19064.hp2 NA19070.hp1 NA19074.hp1 NA19081.hp2 NA20129.hp2 NA20300.hp1 NA20905.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0006 a0008	a0001c0002 a0001c0004 a0001c0005 others(6): Show a0001c0002 a0001c0004 a0001c0005 a0001c0012 a0003c0007 a0003c0008 a0004c0017 a0006c0013 a0008c0011	a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 others(9): Show a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 a0001c0005t0002 a0001c0012t0001 a0003c0007t0002 a0003c0008t0002 a0004c0017t0002 a0006c0013t0002 a0008c0011t0002	a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0180 others(70): 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 a0001c0002t0002g0160 a0001c0002t0002g0162 a0001c0002t0002g0164 a0001c0002t0002g0166 a0001c0002t0002g0168 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0174 a0001c0002t0002g0175 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0004t0001g0005 a0001c0004t0001g0077 a0001c0004t0002g0001 a0001c0004t0002g0002 a0001c0004t0002g0003 a0001c0004t0002g0006 a0001c0004t0002g0007 a0001c0004t0002g0185 a0001c0004t0002g0186 a0001c0004t0002g0226 a0001c0005t0001g0195 a0001c0005t0002g0004 a0001c0005t0002g0187 a0001c0005t0002g0188 a0001c0005t0002g0189 a0001c0005t0002g0190 a0001c0005t0002g0191 a0001c0005t0002g0192 a0001c0005t0002g0194 a0001c0012t0001g0142 a0003c0007t0002g0072 a0003c0007t0002g0079 a0003c0007t0002g0081 a0003c0007t0002g0140 a0003c0007t0002g0141 a0003c0007t0002g0148 a0003c0008t0002g0035 a0003c0008t0002g0036 a0003c0008t0002g0038 a0003c0008t0002g0039 a0004c0017t0002g0163 a0006c0013t0002g0193 a0008c0011t0002g0165	73	226	0.3230	-2	c.147 others(21): Show c.1474-1321_1474-1320delTT	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	14/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78163591	GTA GTA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp2 HG02451.hp1 others(10): Show HG01884.hp2 HG02258.hp2 HG02451.hp1 HG02615.hp2 HG03130.hp2 HG03453.hp1 HG03540.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19043.hp1 NA19043.hp2 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0001c0005 a0002c0003 others(1): Show a0001c0004 a0001c0005 a0002c0003 a0003c0008	a0001c0004t0001 a0001c0004t0002 a0001c0005t0002 others(2): Show a0001c0004t0001 a0001c0004t0002 a0001c0005t0002 a0002c0003t0001 a0003c0008t0002	a0001c0004t0001g0005 a0001c0004t0002g0001 a0001c0004t0002g0002 others(10): Show a0001c0004t0001g0005 a0001c0004t0002g0001 a0001c0004t0002g0002 a0001c0004t0002g0003 a0001c0004t0002g0006 a0001c0004t0002g0186 a0001c0004t0002g0226 a0001c0005t0002g0192 a0002c0003t0001g0067 a0003c0008t0002g0035 a0003c0008t0002g0036 a0003c0008t0002g0038 a0003c0008t0002g0039	13	226	0.0575	-2	c.123 others(19): Show c.1231-642_1231-641delTA	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	12/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78163640	CAT CAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01258.hp1 HG01346.hp1 others(30): Show HG00408.hp1 HG01258.hp1 HG01346.hp1 HG01496.hp1 HG01934.hp1 HG01952.hp2 HG01993.hp1 HG02004.hp2 HG02071.hp2 HG02074.hp2 HG02148.hp1 HG02523.hp2 HG02809.hp2 HG03704.hp2 HG03831.hp1 HG04184.hp2 HG04228.hp1 NA18747.hp1 NA18961.hp2 NA18970.hp1 NA18972.hp1 NA18973.hp1 NA18978.hp1 NA18979.hp1 NA18988.hp1 NA18992.hp2 NA18995.hp1 NA18998.hp2 NA19002.hp1 NA19009.hp2 NA19057.hp2 NA19063.hp1 NA19083.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0004 a0001c0010 others(2): Show a0001c0001 a0001c0004 a0001c0010 a0002c0003 a0005c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0004t0002 a0001c0010t0002 a0002c0003t0002 a0005c0015t0001	a0001c0001t0001g0013 a0001c0001t0001g0029 a0001c0001t0001g0032 others(30): Show a0001c0001t0001g0013 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0159 a0001c0001t0003g0121 a0001c0004t0002g0007 a0001c0010t0002g0024 a0002c0003t0002g0031 a0005c0015t0001g0105	33	226	0.1460	-2	c.123 others(19): Show c.1231-691_1231-690delAT	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	12/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78166117	TCA TCA	T T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18970.hp1 NA18906.hp2 NA18970.hp1	a0001 a0003 a0001 a0003	a0001c0010 a0003c0008 a0001c0010 a0003c0008	a0001c0010t0002 a0003c0008t0002 a0001c0010t0002 a0003c0008t0002	a0001c0010t0002g0024 a0003c0008t0002g0035 a0001c0010t0002g0024 a0003c0008t0002g0035	2	226	0.0089	-2	c.116 others(19): Show c.1168-447_1168-446delTG	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	11/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78168013	GAA GAA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02615.hp2 HG03130.hp2 others(2): Show HG02258.hp2 HG02615.hp2 HG03130.hp2 HG03453.hp1 HG03540.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0002 a0001c0004t0001 a0001c0004t0002	a0001c0004t0001g0005 a0001c0004t0002g0001 a0001c0004t0002g0002 others(2): Show a0001c0004t0001g0005 a0001c0004t0002g0001 a0001c0004t0002g0002 a0001c0004t0002g0003 a0001c0004t0002g0226	5	226	0.0221	-2	c.116 others(21): Show c.1168-2343_1168-2342delTT	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	11/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78169253	ATG ATG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00597.hp2 HG00639.hp1 others(41): 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 HG02738.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 NA19064.hp2 NA19070.hp1 NA19074.hp1 NA19081.hp2 NA20905.hp1	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0002 a0004c0017 a0008c0011 a0001c0002 a0004c0017 a0008c0011	a0001c0002t0001 a0001c0002t0002 a0004c0017t0002 others(1): Show a0001c0002t0001 a0001c0002t0002 a0004c0017t0002 a0008c0011t0002	a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0180 others(41): 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 a0004c0017t0002g0163 a0008c0011t0002g0165	44	226	0.1947	-2	c.116 others(21): Show c.1168-3583_1168-3582delCA	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	11/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78176343	GAA GAA	G G	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02055.hp2 HG02280.hp1 others(8): Show HG01168.hp1 HG02055.hp2 HG02280.hp1 HG02451.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02886.hp1 HG03486.hp1 HG03516.hp2 NA20300.hp1	a0001 a0006 a0001 a0006	a0001c0004 a0001c0005 a0006c0013 a0001c0004 a0001c0005 a0006c0013	a0001c0004t0001 a0001c0005t0001 a0001c0005t0002 others(1): Show a0001c0004t0001 a0001c0005t0001 a0001c0005t0002 a0006c0013t0002	a0001c0004t0001g0077 a0001c0005t0001g0195 a0001c0005t0002g0004 others(8): Show a0001c0004t0001g0077 a0001c0005t0001g0195 a0001c0005t0002g0004 a0001c0005t0002g0187 a0001c0005t0002g0188 a0001c0005t0002g0189 a0001c0005t0002g0190 a0001c0005t0002g0191 a0001c0005t0002g0192 a0001c0005t0002g0194 a0006c0013t0002g0193	11	226	0.0487	-2	c.104 others(19): Show c.1041-507_1041-506delTT	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	9/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78193738	ATT ATT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01496.hp2 HG01515.hp2 others(8): Show HG01175.hp2 HG01496.hp2 HG01515.hp2 HG01943.hp1 HG01993.hp2 HG03195.hp2 HG04184.hp1 NA18949.hp1 NA18961.hp1 NA19064.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0096 others(8): Show a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0002g0115 a0001c0001t0004g0129	11	226	0.0487	-2	c.787 others(21): Show c.787-12078_787-12077delAA	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	7/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78193744	TTA TTA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01106.hp2 HG01256.hp2 others(14): Show HG00099.hp1 HG01106.hp2 HG01256.hp2 HG01258.hp2 HG01361.hp1 HG01884.hp1 HG02109.hp1 HG02451.hp2 HG02683.hp1 HG02738.hp2 HG02818.hp2 HG03139.hp2 HG03486.hp2 HG03704.hp1 NA18906.hp1 NA20129.hp1 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0006 a0002c0003 others(1): Show a0001c0001 a0001c0006 a0002c0003 a0003c0009	a0001c0001t0001 a0001c0006t0001 a0002c0003t0001 others(1): Show a0001c0001t0001 a0001c0006t0001 a0002c0003t0001 a0003c0009t0002	a0001c0001t0001g0037 a0001c0001t0001g0076 a0001c0001t0001g0104 others(14): Show a0001c0001t0001g0037 a0001c0001t0001g0076 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0122 a0001c0006t0001g0040 a0001c0006t0001g0113 a0001c0006t0001g0114 a0001c0006t0001g0120 a0001c0006t0001g0124 a0001c0006t0001g0125 a0002c0003t0001g0066 a0002c0003t0001g0067 a0003c0009t0002g0074 a0003c0009t0002g0078	17	226	0.0752	-2	c.787 others(21): Show c.787-12084_787-12083delTA	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	7/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78207257	CAA CAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp1 HG00639.hp2 others(51): Show HG00099.hp2 HG00558.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00741.hp1 HG01168.hp1 HG01168.hp2 HG01256.hp1 HG01346.hp2 HG01358.hp2 HG01934.hp2 HG01981.hp2 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02135.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02523.hp1 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 HG04228.hp2 NA18947.hp2 NA18950.hp2 NA18952.hp2 NA18970.hp2 NA18979.hp2 NA18982.hp2 NA19030.hp2 NA19063.hp2 NA19068.hp1 NA19081.hp1 NA20300.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0004 a0001c0005 others(4): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0002c0003 a0003c0007 a0006c0013	a0001c0001t0001 a0001c0001t0002 a0001c0004t0002 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0002 a0001c0005t0001 a0001c0005t0002 a0001c0006t0001 a0002c0003t0001 a0003c0007t0002 a0006c0013t0002	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0083 others(51): Show a0001c0001t0001g0008 a0001c0001t0001g0009 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 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0004t0002g0007 a0001c0004t0002g0185 a0001c0005t0001g0195 a0001c0005t0002g0004 a0001c0005t0002g0187 a0001c0005t0002g0188 a0001c0005t0002g0189 a0001c0005t0002g0190 a0001c0005t0002g0191 a0001c0005t0002g0192 a0001c0005t0002g0194 a0001c0006t0001g0223 a0002c0003t0001g0219 a0003c0007t0002g0148 a0006c0013t0002g0193	54	226	0.2389	-2	c.786 others(19): Show c.786+8796_786+8797delTT	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	7/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78223500	AAC AAC	A A	intron_variant intron_variant	MODIFIER	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	-2	c.603 others(19): Show c.603+2040_603+2041delGT	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	6/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78227952	CAT CAT	C C	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02055.hp2 HG02280.hp1 others(7): Show HG01168.hp1 HG02055.hp2 HG02280.hp1 HG02451.hp1 HG02630.hp2 HG02647.hp2 HG02886.hp1 HG03486.hp1 HG03516.hp2 NA20300.hp1	a0001 a0006 a0001 a0006	a0001c0005 a0006c0013 a0001c0005 a0006c0013	a0001c0005t0001 a0001c0005t0002 a0006c0013t0002 a0001c0005t0001 a0001c0005t0002 a0006c0013t0002	a0001c0005t0001g0195 a0001c0005t0002g0004 a0001c0005t0002g0187 others(7): Show a0001c0005t0001g0195 a0001c0005t0002g0004 a0001c0005t0002g0187 a0001c0005t0002g0188 a0001c0005t0002g0189 a0001c0005t0002g0190 a0001c0005t0002g0191 a0001c0005t0002g0192 a0001c0005t0002g0194 a0006c0013t0002g0193	10	226	0.0443	-2	c.375 others(17): Show c.375+190_375+191delAT	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	4/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78233836	CAG CAG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00558.hp1 others(73): Show HG00099.hp2 HG00408.hp1 HG00558.hp1 HG00639.hp2 HG00642.hp1 HG00741.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 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02109.hp2 HG02135.hp2 HG02148.hp1 HG02258.hp1 HG02280.hp2 HG02523.hp1 HG02523.hp2 HG02615.hp1 HG02683.hp2 HG02698.hp2 HG02735.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG03195.hp1 HG03453.hp2 HG03471.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 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0004 a0001c0006 others(4): Show a0001c0001 a0001c0004 a0001c0006 a0001c0010 a0002c0003 a0003c0007 a0005c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0004t0002 a0001c0006t0001 a0001c0010t0002 a0002c0003t0001 a0002c0003t0002 a0003c0007t0002 a0005c0015t0001	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 others(73): 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 a0001c0006t0001g0223 a0001c0010t0002g0024 a0002c0003t0001g0218 a0002c0003t0001g0219 a0002c0003t0002g0031 a0003c0007t0002g0148 a0005c0015t0001g0105	76	226	0.3363	-2	c.280 others(19): Show c.280-5599_280-5598delCT	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	3/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78233837	AGG AGG	A A	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02055.hp2 HG02280.hp1 others(7): Show HG01168.hp1 HG02055.hp2 HG02280.hp1 HG02451.hp1 HG02630.hp2 HG02647.hp2 HG02886.hp1 HG03486.hp1 HG03516.hp2 NA20300.hp1	a0001 a0006 a0001 a0006	a0001c0005 a0006c0013 a0001c0005 a0006c0013	a0001c0005t0001 a0001c0005t0002 a0006c0013t0002 a0001c0005t0001 a0001c0005t0002 a0006c0013t0002	a0001c0005t0001g0195 a0001c0005t0002g0004 a0001c0005t0002g0187 others(7): Show a0001c0005t0001g0195 a0001c0005t0002g0004 a0001c0005t0002g0187 a0001c0005t0002g0188 a0001c0005t0002g0189 a0001c0005t0002g0190 a0001c0005t0002g0191 a0001c0005t0002g0192 a0001c0005t0002g0194 a0006c0013t0002g0193	10	226	0.0443	-2	c.280 others(19): Show c.280-5600_280-5599delCC	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	3/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78239411	CAG CAG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show HG00408.hp1 HG01258.hp1 HG01346.hp1 HG01496.hp1 HG01934.hp1 HG01952.hp2 HG01993.hp1 HG02004.hp2 HG02071.hp2 HG02074.hp2 HG02148.hp1 HG02523.hp2 HG03704.hp2 HG03831.hp1 HG04184.hp2 HG04228.hp1 NA18747.hp1 NA18961.hp2 NA18970.hp1 NA18972.hp1 NA18973.hp1 NA18978.hp1 NA18979.hp1 NA18988.hp1 NA18992.hp2 NA18995.hp1 NA18998.hp2 NA19002.hp1 NA19009.hp2 NA19057.hp2 NA19063.hp1 NA19083.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0010 a0002c0003 others(1): Show a0001c0001 a0001c0010 a0002c0003 a0005c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0010t0002 a0002c0003t0002 a0005c0015t0001	a0001c0001t0001g0013 a0001c0001t0001g0029 a0001c0001t0001g0032 others(29): Show a0001c0001t0001g0013 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0159 a0001c0001t0003g0121 a0001c0010t0002g0024 a0002c0003t0002g0031 a0005c0015t0001g0105	32	226	0.1416	-2	c.279 others(19): Show c.279+1449_279+1450delCT	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	3/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78248492	CAA CAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp1 HG00639.hp2 others(31): Show HG00099.hp2 HG00558.hp1 HG00639.hp2 HG00642.hp1 HG01168.hp2 HG01256.hp1 HG01346.hp2 HG01358.hp2 HG01981.hp2 HG02004.hp1 HG02055.hp1 HG02071.hp1 HG02258.hp1 HG02280.hp2 HG02523.hp1 HG02683.hp2 HG02698.hp2 HG02735.hp2 HG03195.hp1 HG03453.hp2 HG03471.hp2 HG04228.hp1 HG04228.hp2 NA18950.hp2 NA18952.hp2 NA18956.hp2 NA18970.hp2 NA18979.hp2 NA18982.hp2 NA19043.hp2 NA19063.hp2 NA19068.hp1 NA19081.hp1 NA20752.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0006t0001 a0002c0003t0001 a0003c0008t0002	a0001c0001t0001g0013 a0001c0001t0001g0083 a0001c0001t0001g0084 others(31): Show a0001c0001t0001g0013 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0002t0002g0132 a0001c0006t0001g0223 a0002c0003t0001g0218 a0002c0003t0001g0219 a0003c0008t0002g0038	34	226	0.1504	-2	c.205 others(19): Show c.205-7558_205-7557delTT	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	2/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78251220	AAC AAC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00597.hp2 HG00639.hp1 others(51): Show HG00280.hp2 HG00597.hp2 HG00639.hp1 HG00735.hp1 HG00741.hp1 HG01070.hp1 HG01106.hp1 HG01175.hp1 HG01361.hp2 HG01515.hp1 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp2 HG02083.hp2 HG02109.hp2 HG02135.hp1 HG02148.hp2 HG02602.hp1 HG02615.hp1 HG02723.hp2 HG02738.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG03130.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.hp2 NA19064.hp2 NA19070.hp1 NA19074.hp1 NA19081.hp2 NA20905.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0008	a0001c0001 a0001c0002 a0001c0012 others(3): Show a0001c0001 a0001c0002 a0001c0012 a0003c0007 a0004c0017 a0008c0011	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0012t0001 a0003c0007t0002 a0004c0017t0002 a0008c0011t0002	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0144 others(51): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0167 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 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 a0003c0007t0002g0140 a0003c0007t0002g0141 a0003c0007t0002g0148 a0004c0017t0002g0163 a0008c0011t0002g0165	54	226	0.2389	-2	c.205 others(21): Show c.205-10286_205-10285delGT	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	2/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78252505	CAG CAG	C C	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02055.hp2 HG02280.hp1 others(10): Show HG01168.hp1 HG02055.hp2 HG02280.hp1 HG02451.hp1 HG02630.hp2 HG02647.hp2 HG02886.hp1 HG02895.hp1 HG03139.hp1 HG03486.hp1 HG03516.hp2 NA19030.hp1 NA20300.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0005 a0003c0007 a0006c0013 a0001c0005 a0003c0007 a0006c0013	a0001c0005t0001 a0001c0005t0002 a0003c0007t0002 others(1): Show a0001c0005t0001 a0001c0005t0002 a0003c0007t0002 a0006c0013t0002	a0001c0005t0001g0195 a0001c0005t0002g0004 a0001c0005t0002g0187 others(10): Show a0001c0005t0001g0195 a0001c0005t0002g0004 a0001c0005t0002g0187 a0001c0005t0002g0188 a0001c0005t0002g0189 a0001c0005t0002g0190 a0001c0005t0002g0191 a0001c0005t0002g0192 a0001c0005t0002g0194 a0003c0007t0002g0072 a0003c0007t0002g0079 a0003c0007t0002g0081 a0006c0013t0002g0193	13	226	0.0575	-2	c.205 others(21): Show c.205-11571_205-11570delCT	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	2/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78260865	TTG TTG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00558.hp1 others(108): Show HG00099.hp2 HG00280.hp2 HG00558.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00741.hp1 HG01070.hp1 HG01106.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01256.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01515.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp2 HG02055.hp2 HG02071.hp1 HG02083.hp2 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02523.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03453.hp1 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18956.hp2 NA18964.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18978.hp2 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18992.hp1 NA19002.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19063.hp2 NA19064.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19081.hp1 NA19081.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0004 others(10): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0012 a0002c0003 a0003c0007 a0003c0008 a0004c0017 a0006c0013 a0007c0014 a0008c0011	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(13): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 a0001c0005t0002 a0001c0006t0001 a0001c0012t0001 a0002c0003t0001 a0003c0007t0002 a0003c0008t0002 a0004c0017t0002 a0006c0013t0002 a0007c0014t0002 a0008c0011t0002	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0037 others(108): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0037 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 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 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 a0001c0004t0001g0005 a0001c0004t0002g0001 a0001c0004t0002g0002 a0001c0004t0002g0003 a0001c0004t0002g0006 a0001c0004t0002g0007 a0001c0004t0002g0185 a0001c0004t0002g0186 a0001c0005t0001g0195 a0001c0005t0002g0004 a0001c0005t0002g0187 a0001c0005t0002g0188 a0001c0005t0002g0189 a0001c0005t0002g0190 a0001c0005t0002g0191 a0001c0005t0002g0192 a0001c0005t0002g0194 a0001c0006t0001g0223 a0001c0012t0001g0142 a0002c0003t0001g0218 a0002c0003t0001g0219 a0003c0007t0002g0072 a0003c0007t0002g0079 a0003c0007t0002g0081 a0003c0007t0002g0140 a0003c0007t0002g0141 a0003c0007t0002g0148 a0003c0008t0002g0035 a0003c0008t0002g0036 a0003c0008t0002g0038 a0003c0008t0002g0039 a0004c0017t0002g0163 a0006c0013t0002g0193 a0007c0014t0002g0196 a0008c0011t0002g0165	111	226	0.4912	-2	c.204 others(19): Show c.204+6653_204+6654delCA	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	2/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78274032	GAA GAA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02071.hp2 HG02074.hp2 others(20): Show HG00408.hp1 HG02071.hp2 HG02074.hp2 HG02523.hp2 HG03831.hp1 HG04184.hp2 HG04228.hp1 NA18747.hp1 NA18961.hp2 NA18970.hp1 NA18972.hp1 NA18973.hp1 NA18978.hp1 NA18979.hp1 NA18988.hp1 NA18992.hp2 NA18995.hp1 NA18998.hp2 NA19002.hp1 NA19009.hp2 NA19057.hp2 NA19063.hp1 NA19083.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0010 a0002c0003 a0001c0001 a0001c0010 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0010t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0010t0002 a0002c0003t0002	a0001c0001t0001g0013 a0001c0001t0001g0029 a0001c0001t0001g0032 others(20): Show a0001c0001t0001g0013 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0010t0002g0024 a0002c0003t0002g0031	23	226	0.1018	-2	c.129 others(19): Show c.129-6439_129-6438delTT	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	1/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78279867	AAT AAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01496.hp1 HG01884.hp2 others(26): Show HG00408.hp1 HG01496.hp1 HG01884.hp2 HG02071.hp2 HG02074.hp2 HG02523.hp2 HG03139.hp2 HG03831.hp1 HG04184.hp2 HG04228.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp2 NA18961.hp2 NA18970.hp1 NA18972.hp1 NA18973.hp1 NA18978.hp1 NA18979.hp1 NA18988.hp1 NA18992.hp2 NA18995.hp1 NA18998.hp2 NA19002.hp1 NA19009.hp2 NA19043.hp2 NA19057.hp2 NA19063.hp1 NA19083.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0010 a0002c0003 others(1): Show a0001c0001 a0001c0010 a0002c0003 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0010t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0010t0002 a0002c0003t0002 a0003c0008t0002	a0001c0001t0001g0013 a0001c0001t0001g0029 a0001c0001t0001g0032 others(26): Show a0001c0001t0001g0013 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0010t0002g0024 a0002c0003t0002g0031 a0003c0008t0002g0035 a0003c0008t0002g0036 a0003c0008t0002g0038 a0003c0008t0002g0039	29	226	0.1283	-2	c.129 others(21): Show c.129-12274_129-12273delAT	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	1/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78285143	GGA GGA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00642.hp1 HG01168.hp2 others(25): Show HG00558.hp1 HG00642.hp1 HG01168.hp2 HG01256.hp1 HG01346.hp2 HG01358.hp2 HG01934.hp2 HG01981.hp2 HG02004.hp1 HG02071.hp1 HG02135.hp2 HG02280.hp2 HG02523.hp1 HG02683.hp2 HG02698.hp2 HG02735.hp2 HG04228.hp2 NA18947.hp2 NA18950.hp2 NA18952.hp2 NA18970.hp2 NA18979.hp2 NA18982.hp2 NA19063.hp2 NA19068.hp1 NA19081.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0003 a0001c0001 a0001c0006 a0002c0003	a0001c0001t0001 a0001c0006t0001 a0002c0003t0001 a0001c0001t0001 a0001c0006t0001 a0002c0003t0001	a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 others(25): Show 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 a0001c0006t0001g0223 a0002c0003t0001g0218 a0002c0003t0001g0219	28	226	0.1239	-2	c.128 others(19): Show c.128+9307_128+9308delTC	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	1/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78287750	TAA TAA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02809.hp2 NA18956.hp2 others(2): Show HG02723.hp1 HG02809.hp2 NA18956.hp2 NA19043.hp1 NA20129.hp2	a0001 a0007 a0001 a0007	a0001c0002 a0001c0004 a0007c0014 a0001c0002 a0001c0004 a0007c0014	a0001c0002t0002 a0001c0004t0002 a0007c0014t0002 a0001c0002t0002 a0001c0004t0002 a0007c0014t0002	a0001c0002t0002g0132 a0001c0004t0002g0006 a0001c0004t0002g0007 others(2): Show a0001c0002t0002g0132 a0001c0004t0002g0006 a0001c0004t0002g0007 a0001c0004t0002g0186 a0007c0014t0002g0196	5	226	0.0221	-2	c.128 others(19): Show c.128+6700_128+6701delTT	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	1/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78293434	CTA CTA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 NA19030.hp2 HG00741.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0008 a0001c0001t0001g0009	2	226	0.0089	-2	c.128 others(19): Show c.128+1016_128+1017delTA	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	1/26			chr5	TogoVar

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