Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	chr	external
AP5Z1_chr7_4770623_4799397	4787637	C C	T T	synonymous_variant synonymous_variant	LOW	HG01891.hp2 HG02886.hp2 HG03041.hp1 HG01891.hp2 HG02886.hp2 HG03041.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0013 a0005c0008t0013	a0005c0008t0013g0033 a0005c0008t0013g0092 a0005c0008t0013g0033 a0005c0008t0013g0092	3	340	0.0088	c.131 others(4): Show c.1315C>T	p.Leu others(6): Show p.Leu439Leu	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	11/17	1408/5529	1315/2424	439/807	chr7	TogoVar
AP5Z1_chr7_4770623_4799397	4787691	C C	T T	synonymous_variant synonymous_variant	LOW	HG02717.hp2 HG02809.hp1 HG02976.hp2 others(3): Show HG02717.hp2 HG02809.hp1 HG02976.hp2 HG03516.hp2 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0010 a0001c0006t0003g0079 a0001c0006t0003g0081 a0001c0006t0003g0010 a0001c0006t0003g0079 a0001c0006t0003g0081	6	340	0.0177	c.136 others(4): Show c.1369C>T	p.Leu others(6): Show p.Leu457Leu	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	11/17	1462/5529	1369/2424	457/807	chr7	TogoVar
AP5Z1_chr7_4770623_4799397	4787699	C C	T T	synonymous_variant synonymous_variant	LOW	HG00597.hp1 HG01074.hp1 HG01261.hp2 others(30): Show HG00597.hp1 HG01074.hp1 HG01261.hp2 HG02074.hp2 HG02486.hp2 HG02698.hp1 HG02735.hp1 HG02922.hp2 HG03225.hp1 HG03239.hp1 HG03453.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	a0001 a0002 a0001 a0002	a0001c0014 a0002c0003 a0002c0030 others(1): Show a0001c0014 a0002c0003 a0002c0030 a0002c0033	a0001c0014t0006 a0001c0014t0029 a0002c0003t0002 others(4): Show a0001c0014t0006 a0001c0014t0029 a0002c0003t0002 a0002c0003t0011 a0002c0003t0043 a0002c0030t0002 a0002c0033t0002	a0001c0014t0006g0096 a0001c0014t0029g0093 a0002c0003t0002g0003 others(20): Show a0001c0014t0006g0096 a0001c0014t0029g0093 a0002c0003t0002g0003 a0002c0003t0002g0014 a0002c0003t0002g0026 a0002c0003t0002g0027 a0002c0003t0002g0047 a0002c0003t0002g0058 a0002c0003t0002g0059 a0002c0003t0002g0061 a0002c0003t0002g0062 a0002c0003t0002g0063 a0002c0003t0002g0064 a0002c0003t0002g0065 a0002c0003t0002g0066 a0002c0003t0002g0104 a0002c0003t0002g0174 a0002c0003t0011g0003 a0002c0003t0011g0025 a0002c0003t0011g0057 a0002c0003t0043g0025 a0002c0030t0002g0014 a0002c0033t0002g0047	33	340	0.0971	c.137 others(4): Show c.1377C>T	p.Asp others(6): Show p.Asp459Asp	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	11/17	1470/5529	1377/2424	459/807	chr7	TogoVar
AP5Z1_chr7_4770623_4799397	4788253	C C	T T	synonymous_variant synonymous_variant	LOW	HG01081.hp1 HG01496.hp1 HG01496.hp2 others(4): Show HG01081.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG02630.hp2 HG03195.hp1 HG03209.hp2	a0001 a0014 a0001 a0014	a0001c0005 a0014c0028 a0001c0005 a0014c0028	a0001c0005t0009 a0001c0005t0048 a0014c0028t0047 a0001c0005t0009 a0001c0005t0048 a0014c0028t0047	a0001c0005t0009g0031 a0001c0005t0009g0032 a0001c0005t0009g0089 others(3): Show a0001c0005t0009g0031 a0001c0005t0009g0032 a0001c0005t0009g0089 a0001c0005t0009g0090 a0001c0005t0048g0031 a0014c0028t0047g0091	7	340	0.0206	c.155 others(4): Show c.1554C>T	p.Phe others(6): Show p.Phe518Phe	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	12/17	1647/5529	1554/2424	518/807	chr7	TogoVar
AP5Z1_chr7_4770623_4799397	4788256	A A	G G	synonymous_variant synonymous_variant	LOW	HG02922.hp1 HG03225.hp2 HG03471.hp1 HG02922.hp1 HG03225.hp2 HG03471.hp1	a0011 a0015 a0011 a0015	a0011c0013 a0015c0029 a0011c0013 a0015c0029	a0011c0013t0021 a0011c0013t0045 a0015c0029t0020 a0011c0013t0021 a0011c0013t0045 a0015c0029t0020	a0011c0013t0021g0030 a0011c0013t0045g0030 a0015c0029t0020g0082 a0011c0013t0021g0030 a0011c0013t0045g0030 a0015c0029t0020g0082	3	340	0.0088	c.155 others(4): Show c.1557A>G	p.Gln others(6): Show p.Gln519Gln	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	12/17	1650/5529	1557/2424	519/807	chr7	TogoVar
AP5Z1_chr7_4770623_4799397	4788262	G G	A A	synonymous_variant synonymous_variant	LOW	HG02922.hp1 HG03225.hp2 HG02922.hp1 HG03225.hp2	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0021 a0011c0013t0045 a0011c0013t0021 a0011c0013t0045	a0011c0013t0021g0030 a0011c0013t0045g0030 a0011c0013t0021g0030 a0011c0013t0045g0030	2	340	0.0059	c.156 others(4): Show c.1563G>A	p.Leu others(6): Show p.Leu521Leu	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	12/17	1656/5529	1563/2424	521/807	chr7	TogoVar
AP5Z1_chr7_4770623_4799397	4790795	T T	C C	synonymous_variant synonymous_variant	LOW	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0142 a0001c0021t0001g0142	1	340	0.0029	c.206 others(4): Show c.2061T>C	p.Ser others(6): Show p.Ser687Ser	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	16/17	2154/5529	2061/2424	687/807	chr7	TogoVar
AP5Z1_chr7_4770623_4799397	4790825	G G	T T	synonymous_variant synonymous_variant	LOW	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0006 a0001c0025t0006	a0001c0025t0006g0009 a0001c0025t0006g0009	1	340	0.0029	c.209 others(4): Show c.2091G>T	p.Val others(6): Show p.Val697Val	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	16/17	2184/5529	2091/2424	697/807	chr7	TogoVar
AP5Z1_chr7_4770623_4799397	4791193	G G	A A	synonymous_variant synonymous_variant	LOW	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0001 a0001c0024t0001g0001	1	340	0.0029	c.223 others(4): Show c.2232G>A	p.Ala others(6): Show p.Ala744Ala	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	17/17	2325/5529	2232/2424	744/807	chr7	TogoVar
AP5Z1_chr7_4770623_4799397	4791340	G G	T T	synonymous_variant synonymous_variant	LOW	HG01074.hp2 HG01081.hp2 HG01361.hp2 others(1): Show HG01074.hp2 HG01081.hp2 HG01361.hp2 HG03491.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0012 a0004c0007t0012	a0004c0007t0012g0015 a0004c0007t0012g0067 a0004c0007t0012g0015 a0004c0007t0012g0067	4	340	0.0118	c.237 others(4): Show c.2379G>T	p.Thr others(6): Show p.Thr793Thr	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	17/17	2472/5529	2379/2424	793/807	chr7	TogoVar
APAF1_chr12_98640290_98740433	98665590	A A	G G	synonymous_variant synonymous_variant	LOW	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0006 a0001c0013t0006	a0001c0013t0006g0153 a0001c0013t0006g0153	1	366	0.0027	c.993 others(3): Show c.993A>G	p.Leu others(6): Show p.Leu331Leu	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	8/27	1580/7201	993/3747	331/1248	chr12	TogoVar
APAF1_chr12_98640290_98740433	98665674	T T	C C	synonymous_variant synonymous_variant	LOW	HG02280.hp2 HG02965.hp2 HG02970.hp2 others(2): Show HG02280.hp2 HG02965.hp2 HG02970.hp2 HG03139.hp1 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0001c0002t0023 a0001c0002t0032 others(1): Show a0001c0002t0001 a0001c0002t0023 a0001c0002t0032 a0002c0003t0007	a0001c0002t0001g0355 a0001c0002t0023g0309 a0001c0002t0032g0217 others(2): Show a0001c0002t0001g0355 a0001c0002t0023g0309 a0001c0002t0032g0217 a0002c0003t0007g0353 a0002c0003t0007g0354	5	366	0.0137	c.107 others(4): Show c.1077T>C	p.Tyr others(6): Show p.Tyr359Tyr	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	8/27	1664/7201	1077/3747	359/1248	chr12	TogoVar
APAF1_chr12_98640290_98740433	98699518	G G	A A	synonymous_variant synonymous_variant	LOW	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0029 a0001c0010t0001g0029	1	366	0.0027	c.241 others(4): Show c.2415G>A	p.Ser others(6): Show p.Ser805Ser	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	17/27	3002/7201	2415/3747	805/1248	chr12	TogoVar
APAF1_chr12_98640290_98740433	98699524	T T	G G	synonymous_variant synonymous_variant	LOW	HG02258.hp2 HG03579.hp2 HG02258.hp2 HG03579.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0225 a0001c0004t0007g0226 a0001c0004t0007g0225 a0001c0004t0007g0226	2	366	0.0055	c.242 others(4): Show c.2421T>G	p.Ser others(6): Show p.Ser807Ser	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	17/27	3008/7201	2421/3747	807/1248	chr12	TogoVar
APAF1_chr12_98640290_98740433	98712429	C C	T T	synonymous_variant synonymous_variant	LOW	HG02258.hp2 HG03579.hp2 HG02258.hp2 HG03579.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0225 a0001c0004t0007g0226 a0001c0004t0007g0225 a0001c0004t0007g0226	2	366	0.0055	c.295 others(4): Show c.2952C>T	p.Ala others(6): Show p.Ala984Ala	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	21/27	3539/7201	2952/3747	984/1248	chr12	TogoVar
APBA1_chr9_69422532_69677371	69467910	G G	A A	synonymous_variant synonymous_variant	LOW	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0123 a0001c0005t0006g0123	1	210	0.0048	c.139 others(4): Show c.1395C>T	p.Tyr others(6): Show p.Tyr465Tyr	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	5/13	1683/6597	1395/2514	465/837	chr9	TogoVar
APBA1_chr9_69422532_69677371	69516302	G G	C C	synonymous_variant synonymous_variant	LOW	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0029 a0001c0006t0029	a0001c0006t0029g0083 a0001c0006t0029g0083	1	210	0.0048	c.909 others(3): Show c.909C>G	p.Pro others(6): Show p.Pro303Pro	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	2/13	1197/6597	909/2514	303/837	chr9	TogoVar
APBA1_chr9_69422532_69677371	69516590	C C	G G	synonymous_variant synonymous_variant	LOW	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0126 a0001c0004t0002g0126	1	210	0.0048	c.621 others(3): Show c.621G>C	p.Leu others(6): Show p.Leu207Leu	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	2/13	909/6597	621/2514	207/837	chr9	TogoVar
APBA2_chr15_28880974_29123315	29053917	C C	T T	synonymous_variant synonymous_variant	LOW	HG02895.hp2 HG02897.hp1 HG03195.hp2 others(1): Show HG02895.hp2 HG02897.hp1 HG03195.hp2 HG06807.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0016 a0002c0006t0017 a0002c0006t0016 a0002c0006t0017	a0002c0006t0016g0099 a0002c0006t0016g0100 a0002c0006t0017g0114 others(1): Show a0002c0006t0016g0099 a0002c0006t0016g0100 a0002c0006t0017g0114 a0002c0006t0017g0203	4	204	0.0196	c.33C others(2): Show c.33C>T	p.Ser others(5): Show p.Ser11Ser	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	4/15	542/3941	33/2250	11/749	chr15	TogoVar
APBA2_chr15_28880974_29123315	29054145	C C	T T	synonymous_variant synonymous_variant	LOW	HG03209.hp2 HG03540.hp1 HG03209.hp2 HG03540.hp1	a0002 a0002	a0002c0016 a0002c0017 a0002c0016 a0002c0017	a0002c0016t0036 a0002c0017t0034 a0002c0016t0036 a0002c0017t0034	a0002c0016t0036g0001 a0002c0017t0034g0177 a0002c0016t0036g0001 a0002c0017t0034g0177	2	204	0.0098	c.261 others(3): Show c.261C>T	p.Asp others(5): Show p.Asp87Asp	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	4/15	770/3941	261/2250	87/749	chr15	TogoVar
APBA2_chr15_28880974_29123315	29054187	C C	T T	synonymous_variant synonymous_variant	LOW	HG02572.hp2 HG02809.hp1 HG02572.hp2 HG02809.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0014 a0001c0009t0014	a0001c0009t0014g0070 a0001c0009t0014g0083 a0001c0009t0014g0070 a0001c0009t0014g0083	2	204	0.0098	c.303 others(3): Show c.303C>T	p.Ile others(6): Show p.Ile101Ile	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	4/15	812/3941	303/2250	101/749	chr15	TogoVar
APBA2_chr15_28880974_29123315	29054265	C C	T T	synonymous_variant synonymous_variant	LOW	HG01167.hp2 HG01169.hp1 HG01257.hp1 others(1): Show HG01167.hp2 HG01169.hp1 HG01257.hp1 HG01258.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0004 a0002c0005t0001 a0002c0005t0004	a0002c0005t0001g0053 a0002c0005t0001g0054 a0002c0005t0004g0022 others(1): Show a0002c0005t0001g0053 a0002c0005t0001g0054 a0002c0005t0004g0022 a0002c0005t0004g0048	4	204	0.0196	c.381 others(3): Show c.381C>T	p.His others(6): Show p.His127His	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	4/15	890/3941	381/2250	127/749	chr15	TogoVar
APBA2_chr15_28880974_29123315	29054403	C C	T T	synonymous_variant synonymous_variant	LOW	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0035 a0002c0014t0035	a0002c0014t0035g0191 a0002c0014t0035g0191	1	204	0.0049	c.519 others(3): Show c.519C>T	p.Ser others(6): Show p.Ser173Ser	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	4/15	1028/3941	519/2250	173/749	chr15	TogoVar
APBA2_chr15_28880974_29123315	29054502	C C	T T	synonymous_variant synonymous_variant	LOW	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0034 a0002c0017t0034	a0002c0017t0034g0177 a0002c0017t0034g0177	1	204	0.0049	c.618 others(3): Show c.618C>T	p.Gly others(6): Show p.Gly206Gly	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	4/15	1127/3941	618/2250	206/749	chr15	TogoVar
APBA2_chr15_28880974_29123315	29054721	G G	A A	synonymous_variant synonymous_variant	LOW	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0004 a0001c0011t0004	a0001c0011t0004g0056 a0001c0011t0004g0056	1	204	0.0049	c.837 others(3): Show c.837G>A	p.Ala others(6): Show p.Ala279Ala	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	4/15	1346/3941	837/2250	279/749	chr15	TogoVar
APBA2_chr15_28880974_29123315	29094286	A A	G G	synonymous_variant synonymous_variant	LOW	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0010 a0002c0012t0010	a0002c0012t0010g0027 a0002c0012t0010g0027	1	204	0.0049	c.122 others(4): Show c.1224A>G	p.Gln others(6): Show p.Gln408Gln	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	8/15	1733/3941	1224/2250	408/749	chr15	TogoVar
APBA2_chr15_28880974_29123315	29105390	C C	T T	synonymous_variant synonymous_variant	LOW	HG01255.hp1 HG02280.hp1 HG02615.hp2 others(2): Show HG01255.hp1 HG02280.hp1 HG02615.hp2 HG03540.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0013 a0002c0004 a0001c0013 a0002c0004	a0001c0013t0009 a0002c0004t0004 a0002c0004t0009 others(1): Show a0001c0013t0009 a0002c0004t0004 a0002c0004t0009 a0002c0004t0022	a0001c0013t0009g0127 a0002c0004t0004g0069 a0002c0004t0009g0106 others(2): Show a0001c0013t0009g0127 a0002c0004t0004g0069 a0002c0004t0009g0106 a0002c0004t0009g0121 a0002c0004t0022g0080	5	204	0.0245	c.153 others(4): Show c.1536C>T	p.Ile others(6): Show p.Ile512Ile	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	11/15	2045/3941	1536/2250	512/749	chr15	TogoVar
APBA2_chr15_28880974_29123315	29106711	C C	T T	synonymous_variant synonymous_variant	LOW	HG02818.hp2 HG02895.hp2 HG02897.hp1 others(10): Show HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp1 HG06807.hp2 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0006 a0002c0014 others(1): Show a0002c0003 a0002c0006 a0002c0014 a0002c0016	a0002c0003t0006 a0002c0003t0012 a0002c0003t0013 others(6): Show a0002c0003t0006 a0002c0003t0012 a0002c0003t0013 a0002c0003t0018 a0002c0003t0038 a0002c0006t0016 a0002c0006t0017 a0002c0014t0035 a0002c0016t0036	a0002c0003t0006g0189 a0002c0003t0012g0092 a0002c0003t0013g0029 others(10): Show a0002c0003t0006g0189 a0002c0003t0012g0092 a0002c0003t0013g0029 a0002c0003t0013g0081 a0002c0003t0018g0145 a0002c0003t0018g0146 a0002c0003t0038g0107 a0002c0006t0016g0099 a0002c0006t0016g0100 a0002c0006t0017g0114 a0002c0006t0017g0203 a0002c0014t0035g0191 a0002c0016t0036g0001	13	204	0.0637	c.180 others(4): Show c.1809C>T	p.Gly others(6): Show p.Gly603Gly	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	12/15	2318/3941	1809/2250	603/749	chr15	TogoVar
APBA2_chr15_28880974_29123315	29106787	C C	T T	synonymous_variant synonymous_variant	LOW	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0043 a0001c0007t0004g0044 a0001c0007t0004g0043 a0001c0007t0004g0044	2	204	0.0098	c.188 others(4): Show c.1885C>T	p.Leu others(6): Show p.Leu629Leu	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	12/15	2394/3941	1885/2250	629/749	chr15	TogoVar
APBA3_chr19_3745772_3766692	3751494	G G	A A	synonymous_variant synonymous_variant	LOW	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0003 a0001c0031t0003	a0001c0031t0003g0168 a0001c0031t0003g0168	1	450	0.0022	c.145 others(4): Show c.1455C>T	p.Thr others(6): Show p.Thr485Thr	APBA3	ENSG00000011132.12	transcript	ENST00000316757.4	protein_coding	9/11	1649/2176	1455/1728	485/575	chr19	TogoVar
APBA3_chr19_3745772_3766692	3752508	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18970.hp1 NA18970.hp1	a0002 a0002	a0002c0035 a0002c0035	a0002c0035t0001 a0002c0035t0001	a0002c0035t0001g0132 a0002c0035t0001g0132	1	450	0.0022	c.139 others(4): Show c.1395C>T	p.Arg others(6): Show p.Arg465Arg	APBA3	ENSG00000011132.12	transcript	ENST00000316757.4	protein_coding	8/11	1589/2176	1395/1728	465/575	chr19	TogoVar
APBA3_chr19_3745772_3766692	3752517	G G	A A	synonymous_variant synonymous_variant	LOW	HG00280.hp2 HG00609.hp2 HG00642.hp1 others(65): Show HG00280.hp2 HG00609.hp2 HG00642.hp1 HG00738.hp1 HG01070.hp2 HG01099.hp2 HG01167.hp2 HG01192.hp1 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG02004.hp2 HG02015.hp2 HG02056.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02630.hp2 HG02738.hp1 HG03239.hp1 HG03471.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG04228.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18942.hp2 NA18948.hp1 NA18953.hp1 NA18964.hp2 NA18968.hp1 NA18969.hp2 NA18973.hp1 NA18983.hp2 NA18985.hp1 NA18992.hp1 NA18997.hp1 NA18998.hp2 NA19000.hp1 NA19002.hp2 NA19011.hp2 NA19058.hp2 NA19070.hp2 NA19074.hp1 NA19077.hp2 NA19080.hp2 NA19084.hp1 NA19087.hp1 NA20752.hp2 NA20905.hp2	a0001 a0017 a0018 a0001 a0017 a0018	a0001c0003 a0001c0031 a0017c0021 others(1): Show a0001c0003 a0001c0031 a0017c0021 a0018c0024	a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 others(7): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0008 a0001c0003t0011 a0001c0031t0003 a0017c0021t0002 a0018c0024t0003	a0001c0003t0001g0050 a0001c0003t0002g0056 a0001c0003t0003g0003 others(22): Show a0001c0003t0001g0050 a0001c0003t0002g0056 a0001c0003t0003g0003 a0001c0003t0003g0046 a0001c0003t0003g0049 a0001c0003t0003g0051 a0001c0003t0003g0134 a0001c0003t0003g0152 a0001c0003t0003g0153 a0001c0003t0003g0166 a0001c0003t0003g0169 a0001c0003t0003g0171 a0001c0003t0003g0178 a0001c0003t0003g0192 a0001c0003t0003g0193 a0001c0003t0004g0009 a0001c0003t0004g0029 a0001c0003t0004g0038 a0001c0003t0005g0081 a0001c0003t0008g0167 a0001c0003t0008g0175 a0001c0003t0011g0114 a0001c0031t0003g0168 a0017c0021t0002g0104 a0018c0024t0003g0180	68	450	0.1511	c.138 others(4): Show c.1386C>T	p.Ala others(6): Show p.Ala462Ala	APBA3	ENSG00000011132.12	transcript	ENST00000316757.4	protein_coding	8/11	1580/2176	1386/1728	462/575	chr19	TogoVar
APBA3_chr19_3745772_3766692	3752565	G G	A A	synonymous_variant synonymous_variant	LOW	HG00438.hp2 HG00621.hp2 HG00673.hp1 others(35): Show HG00438.hp2 HG00621.hp2 HG00673.hp1 HG00738.hp2 HG01069.hp1 HG01109.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02074.hp1 HG02080.hp2 HG02132.hp2 HG02135.hp2 HG02293.hp2 HG02523.hp2 HG02698.hp1 HG04204.hp2 NA18939.hp1 NA18940.hp2 NA18947.hp2 NA18950.hp2 NA18952.hp2 NA18955.hp1 NA18970.hp2 NA18975.hp2 NA18984.hp2 NA18989.hp1 NA19002.hp1 NA19004.hp1 NA19011.hp1 NA19058.hp1 NA19060.hp1 NA19067.hp2 NA19081.hp1 NA19085.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0002 a0001c0004t0005 others(2): Show a0001c0004t0001 a0001c0004t0002 a0001c0004t0005 a0001c0004t0006 a0001c0004t0014	a0001c0004t0001g0044 a0001c0004t0001g0128 a0001c0004t0001g0129 others(17): Show a0001c0004t0001g0044 a0001c0004t0001g0128 a0001c0004t0001g0129 a0001c0004t0001g0137 a0001c0004t0001g0146 a0001c0004t0001g0147 a0001c0004t0001g0148 a0001c0004t0001g0184 a0001c0004t0002g0004 a0001c0004t0002g0019 a0001c0004t0002g0073 a0001c0004t0002g0076 a0001c0004t0002g0078 a0001c0004t0002g0085 a0001c0004t0002g0093 a0001c0004t0002g0101 a0001c0004t0005g0030 a0001c0004t0005g0094 a0001c0004t0006g0020 a0001c0004t0014g0165	38	450	0.0844	c.133 others(4): Show c.1338C>T	p.Ala others(6): Show p.Ala446Ala	APBA3	ENSG00000011132.12	transcript	ENST00000316757.4	protein_coding	8/11	1532/2176	1338/1728	446/575	chr19	TogoVar
APBA3_chr19_3745772_3766692	3753771	C C	T T	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(180): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp2 HG01496.hp1 HG01928.hp1 HG01943.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02258.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02717.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp2 HG03453.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18965.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18989.hp1 NA18989.hp2 NA18993.hp1 NA18994.hp1 NA18998.hp1 NA18999.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp2 NA19043.hp2 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19070.hp1 NA19074.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 others(8): Show a0001 a0002 a0006 a0007 a0008 a0014 a0021 a0022 a0023 a0024 a0027	a0001c0002 a0001c0004 a0001c0005 others(10): Show a0001c0002 a0001c0004 a0001c0005 a0002c0029 a0006c0011 a0007c0010 a0008c0009 a0014c0038 a0021c0025 a0022c0026 a0023c0027 a0024c0028 a0027c0020	a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 others(17): Show a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0004t0002 a0001c0004t0005 a0001c0004t0006 a0001c0004t0014 a0001c0005t0001 a0001c0005t0002 a0001c0005t0004 a0002c0029t0010 a0006c0011t0002 a0007c0010t0002 a0008c0009t0002 a0014c0038t0002 a0021c0025t0002 a0022c0026t0001 a0023c0027t0001 a0024c0028t0001 a0027c0020t0002	a0001c0002t0001g0002 a0001c0002t0001g0024 a0001c0002t0001g0025 others(78): Show a0001c0002t0001g0002 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0041 a0001c0002t0001g0118 a0001c0002t0001g0133 a0001c0002t0001g0135 a0001c0002t0001g0145 a0001c0002t0001g0150 a0001c0002t0001g0176 a0001c0002t0001g0185 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0002g0006 a0001c0002t0002g0011 a0001c0002t0002g0013 a0001c0002t0002g0015 a0001c0002t0002g0017 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0068 a0001c0002t0002g0070 a0001c0002t0002g0072 a0001c0002t0002g0075 a0001c0002t0002g0077 a0001c0002t0002g0079 a0001c0002t0002g0092 a0001c0002t0002g0099 a0001c0002t0002g0108 a0001c0002t0002g0115 a0001c0004t0001g0044 a0001c0004t0001g0128 a0001c0004t0001g0129 a0001c0004t0001g0137 a0001c0004t0001g0146 a0001c0004t0001g0147 a0001c0004t0001g0148 a0001c0004t0001g0184 a0001c0004t0002g0004 a0001c0004t0002g0019 a0001c0004t0002g0073 a0001c0004t0002g0076 a0001c0004t0002g0078 a0001c0004t0002g0085 a0001c0004t0002g0093 a0001c0004t0002g0101 a0001c0004t0005g0030 a0001c0004t0005g0094 a0001c0004t0006g0020 a0001c0004t0014g0165 a0001c0005t0001g0043 a0001c0005t0001g0052 a0001c0005t0001g0138 a0001c0005t0001g0149 a0001c0005t0001g0156 a0001c0005t0002g0007 a0001c0005t0002g0022 a0001c0005t0002g0034 a0001c0005t0002g0037 a0001c0005t0002g0039 a0001c0005t0004g0095 a0002c0029t0010g0071 a0006c0011t0002g0055 a0006c0011t0002g0086 a0006c0011t0002g0087 a0007c0010t0002g0036 a0007c0010t0002g0096 a0008c0009t0002g0031 a0008c0009t0002g0088 a0014c0038t0002g0113 a0021c0025t0002g0074 a0022c0026t0001g0141 a0023c0027t0001g0140 a0024c0028t0001g0142 a0027c0020t0002g0090	183	450	0.4067	c.100 others(4): Show c.1005G>A	p.Ala others(6): Show p.Ala335Ala	APBA3	ENSG00000011132.12	transcript	ENST00000316757.4	protein_coding	6/11	1199/2176	1005/1728	335/575	chr19	TogoVar
APBA3_chr19_3745772_3766692	3753876	G G	A A	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00140.hp1 HG00733.hp2 others(27): Show HG00099.hp1 HG00140.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01255.hp2 HG01261.hp1 HG01346.hp2 HG01433.hp2 HG01943.hp1 HG03017.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03669.hp2 HG03942.hp2 HG06807.hp1 NA18973.hp2 NA18981.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0007 a0001 a0007	a0001c0005 a0007c0010 a0001c0005 a0007c0010	a0001c0005t0001 a0001c0005t0002 a0001c0005t0004 others(1): Show a0001c0005t0001 a0001c0005t0002 a0001c0005t0004 a0007c0010t0002	a0001c0005t0001g0043 a0001c0005t0001g0052 a0001c0005t0001g0138 others(10): Show a0001c0005t0001g0043 a0001c0005t0001g0052 a0001c0005t0001g0138 a0001c0005t0001g0149 a0001c0005t0001g0156 a0001c0005t0002g0007 a0001c0005t0002g0022 a0001c0005t0002g0034 a0001c0005t0002g0037 a0001c0005t0002g0039 a0001c0005t0004g0095 a0007c0010t0002g0036 a0007c0010t0002g0096	30	450	0.0667	c.900 others(3): Show c.900C>T	p.Ile others(6): Show p.Ile300Ile	APBA3	ENSG00000011132.12	transcript	ENST00000316757.4	protein_coding	6/11	1094/2176	900/1728	300/575	chr19	TogoVar
APBA3_chr19_3745772_3766692	3753894	G G	A A	synonymous_variant synonymous_variant	LOW	HG01257.hp1 HG01257.hp1	a0002 a0002	a0002c0036 a0002c0036	a0002c0036t0002 a0002c0036t0002	a0002c0036t0002g0112 a0002c0036t0002g0112	1	450	0.0022	c.882 others(3): Show c.882C>T	p.Ile others(6): Show p.Ile294Ile	APBA3	ENSG00000011132.12	transcript	ENST00000316757.4	protein_coding	6/11	1076/2176	882/1728	294/575	chr19	TogoVar
APBA3_chr19_3745772_3766692	3754022	G G	C C	synonymous_variant synonymous_variant	LOW	HG01361.hp1 HG01496.hp2 HG03225.hp2 others(3): Show HG01361.hp1 HG01496.hp2 HG03225.hp2 HG03540.hp2 HG03654.hp2 HG03710.hp2	a0005 a0009 a0005 a0009	a0005c0008 a0009c0016 a0005c0008 a0009c0016	a0005c0008t0002 a0009c0016t0001 a0009c0016t0002 a0005c0008t0002 a0009c0016t0001 a0009c0016t0002	a0005c0008t0002g0040 a0005c0008t0002g0102 a0005c0008t0002g0103 others(2): Show a0005c0008t0002g0040 a0005c0008t0002g0102 a0005c0008t0002g0103 a0009c0016t0001g0170 a0009c0016t0002g0098	6	450	0.0133	c.846 others(3): Show c.846C>G	p.Ser others(6): Show p.Ser282Ser	APBA3	ENSG00000011132.12	transcript	ENST00000316757.4	protein_coding	5/11	1040/2176	846/1728	282/575	chr19	TogoVar
APBA3_chr19_3745772_3766692	3759701	G G	A A	synonymous_variant synonymous_variant	LOW	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0039 a0002c0039	a0002c0039t0001 a0002c0039t0001	a0002c0039t0001g0195 a0002c0039t0001g0195	1	450	0.0022	c.564 others(3): Show c.564C>T	p.Pro others(6): Show p.Pro188Pro	APBA3	ENSG00000011132.12	transcript	ENST00000316757.4	protein_coding	2/11	758/2176	564/1728	188/575	chr19	TogoVar
APBA3_chr19_3745772_3766692	3759812	G G	A A	synonymous_variant synonymous_variant	LOW	HG02055.hp2 HG02280.hp2 HG02055.hp2 HG02280.hp2	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0009 a0003c0017t0009	a0003c0017t0009g0200 a0003c0017t0009g0201 a0003c0017t0009g0200 a0003c0017t0009g0201	2	450	0.0044	c.453 others(3): Show c.453C>T	p.Ser others(6): Show p.Ser151Ser	APBA3	ENSG00000011132.12	transcript	ENST00000316757.4	protein_coding	2/11	647/2176	453/1728	151/575	chr19	TogoVar
APBA3_chr19_3745772_3766692	3759929	C C	T T	synonymous_variant synonymous_variant	LOW	NA19000.hp2 NA19000.hp2	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0001 a0002c0018t0001	a0002c0018t0001g0127 a0002c0018t0001g0127	1	450	0.0022	c.336 others(3): Show c.336G>A	p.Leu others(6): Show p.Leu112Leu	APBA3	ENSG00000011132.12	transcript	ENST00000316757.4	protein_coding	2/11	530/2176	336/1728	112/575	chr19	TogoVar
APBA3_chr19_3745772_3766692	3760058	G G	A A	synonymous_variant synonymous_variant	LOW	HG01884.hp2 HG02559.hp2 HG02895.hp1 others(5): Show HG01884.hp2 HG02559.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG03195.hp1 NA18906.hp2 NA19240.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0002	a0004c0007t0002g0010 a0004c0007t0002g0010	8	450	0.0178	c.207 others(3): Show c.207C>T	p.Gly others(5): Show p.Gly69Gly	APBA3	ENSG00000011132.12	transcript	ENST00000316757.4	protein_coding	2/11	401/2176	207/1728	69/575	chr19	TogoVar
APBB1IP_chr10_26433341_26572803	26511830	C C	T T	synonymous_variant synonymous_variant	LOW	HG02258.hp2 HG02615.hp1 HG02818.hp1 others(3): Show HG02258.hp2 HG02615.hp1 HG02818.hp1 HG02922.hp2 NA18522.hp2 NA19030.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0014 a0002c0006 a0003c0015 others(1): Show a0001c0014 a0002c0006 a0003c0015 a0004c0013	a0001c0014t0006 a0002c0006t0002 a0003c0015t0001 others(1): Show a0001c0014t0006 a0002c0006t0002 a0003c0015t0001 a0004c0013t0002	a0001c0014t0006g0337 a0002c0006t0002g0307 a0002c0006t0002g0308 others(3): Show a0001c0014t0006g0337 a0002c0006t0002g0307 a0002c0006t0002g0308 a0002c0006t0002g0339 a0003c0015t0001g0218 a0004c0013t0002g0287	6	358	0.0168	c.615 others(3): Show c.615C>T	p.Asp others(6): Show p.Asp205Asp	APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	7/15	932/2633	615/2001	205/666	chr10	TogoVar
APBB1_chr11_6390125_6424094	6401604	G G	A A	synonymous_variant synonymous_variant	LOW	HG02083.hp2 NA18947.hp1 NA18969.hp1 others(2): Show HG02083.hp2 NA18947.hp1 NA18969.hp1 NA18981.hp2 NA19074.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0089 a0001c0004t0001g0100 a0001c0004t0001g0114 others(2): Show a0001c0004t0001g0089 a0001c0004t0001g0100 a0001c0004t0001g0114 a0001c0004t0001g0128 a0001c0004t0001g0196	5	416	0.0120	c.147 others(4): Show c.1473C>T	p.Ile others(6): Show p.Ile491Ile	APBB1	ENSG00000166313.20	transcript	ENST00000609360.6	protein_coding	10/15	1597/2666	1473/2133	491/710	chr11	TogoVar
APBB1_chr11_6390125_6424094	6401637	G G	A A	synonymous_variant synonymous_variant	LOW	HG00544.hp1 HG02155.hp2 HG02602.hp2 others(1): Show HG00544.hp1 HG02155.hp2 HG02602.hp2 NA19006.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0057 a0001c0006t0001g0093 a0001c0006t0001g0123 others(1): Show a0001c0006t0001g0057 a0001c0006t0001g0093 a0001c0006t0001g0123 a0001c0006t0001g0136	4	416	0.0096	c.144 others(4): Show c.1440C>T	p.His others(6): Show p.His480His	APBB1	ENSG00000166313.20	transcript	ENST00000609360.6	protein_coding	10/15	1564/2666	1440/2133	480/710	chr11	TogoVar
APBB1_chr11_6390125_6424094	6402111	G G	A A	synonymous_variant synonymous_variant	LOW	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0294 a0001c0010t0001g0294	1	416	0.0024	c.135 others(4): Show c.1353C>T	p.Arg others(6): Show p.Arg451Arg	APBB1	ENSG00000166313.20	transcript	ENST00000609360.6	protein_coding	8/15	1477/2666	1353/2133	451/710	chr11	TogoVar
APBB1_chr11_6390125_6424094	6402677	G G	A A	synonymous_variant synonymous_variant	LOW	HG02559.hp2 HG03453.hp1 HG03471.hp2 others(1): Show HG02559.hp2 HG03453.hp1 HG03471.hp2 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0007 a0004c0012 a0001c0007 a0004c0012	a0001c0007t0001 a0001c0007t0003 a0004c0012t0001 a0001c0007t0001 a0001c0007t0003 a0004c0012t0001	a0001c0007t0001g0305 a0001c0007t0001g0339 a0001c0007t0003g0082 others(1): Show a0001c0007t0001g0305 a0001c0007t0001g0339 a0001c0007t0003g0082 a0004c0012t0001g0341	4	416	0.0096	c.115 others(4): Show c.1153C>T	p.Leu others(6): Show p.Leu385Leu	APBB1	ENSG00000166313.20	transcript	ENST00000609360.6	protein_coding	7/15	1277/2666	1153/2133	385/710	chr11	TogoVar
APBB1_chr11_6390125_6424094	6402717	G G	A A	synonymous_variant synonymous_variant	LOW	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0287 a0001c0013t0001g0287	1	416	0.0024	c.111 others(4): Show c.1113C>T	p.Ala others(6): Show p.Ala371Ala	APBB1	ENSG00000166313.20	transcript	ENST00000609360.6	protein_coding	7/15	1237/2666	1113/2133	371/710	chr11	TogoVar
APBB1_chr11_6390125_6424094	6410886	G G	A A	synonymous_variant synonymous_variant	LOW	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0287 a0001c0013t0001g0287	1	416	0.0024	c.462 others(3): Show c.462C>T	p.Ala others(6): Show p.Ala154Ala	APBB1	ENSG00000166313.20	transcript	ENST00000609360.6	protein_coding	2/15	586/2666	462/2133	154/710	chr11	TogoVar
APBB1_chr11_6390125_6424094	6410970	G G	A A	synonymous_variant synonymous_variant	LOW	HG01346.hp1 HG01891.hp1 HG02109.hp1 others(8): Show HG01346.hp1 HG01891.hp1 HG02109.hp1 HG02145.hp1 HG02559.hp1 HG02647.hp1 HG02723.hp2 HG02896.hp2 HG03139.hp1 HG03579.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0034 a0001c0002t0001g0170 others(4): Show a0001c0002t0001g0005 a0001c0002t0001g0034 a0001c0002t0001g0170 a0001c0002t0001g0266 a0001c0002t0001g0271 a0001c0002t0001g0324 a0001c0002t0001g0325	11	416	0.0264	c.378 others(3): Show c.378C>T	p.Asn others(6): Show p.Asn126Asn	APBB1	ENSG00000166313.20	transcript	ENST00000609360.6	protein_coding	2/15	502/2666	378/2133	126/710	chr11	TogoVar
APBB1_chr11_6390125_6424094	6411300	G G	A A	synonymous_variant synonymous_variant	LOW	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0109 a0001c0014t0001g0109	1	416	0.0024	c.48C others(2): Show c.48C>T	p.Ser others(5): Show p.Ser16Ser	APBB1	ENSG00000166313.20	transcript	ENST00000609360.6	protein_coding	2/15	172/2666	48/2133	16/710	chr11	TogoVar

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