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
APAF1_chr12_98640290_98740433	98666295	C C	T T	missense_variant missense_variant	MODERATE	HG04204.hp1 HG04204.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0360 a0006c0012t0001g0360	1	366	0.0027	c.130 others(4): Show c.1300C>T	p.Arg others(6): Show p.Arg434Cys	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	9/27	1887/7201	1300/3747	434/1248	chr12	TogoVar
APAF1_chr12_98640290_98740433	98666331	A A	T T	missense_variant missense_variant	MODERATE	HG02280.hp2 HG03139.hp1 HG02280.hp2 HG03139.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0353 a0002c0003t0007g0354 a0002c0003t0007g0353 a0002c0003t0007g0354	2	366	0.0055	c.133 others(4): Show c.1336A>T	p.Thr others(6): Show p.Thr446Ser	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	9/27	1923/7201	1336/3747	446/1248	chr12	TogoVar
APAF1_chr12_98640290_98740433	98667559	C C	T T	missense_variant missense_variant	MODERATE	HG02717.hp2 HG02717.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0025 a0007c0011t0025	a0007c0011t0025g0204 a0007c0011t0025g0204	1	366	0.0027	c.140 others(4): Show c.1409C>T	p.Pro others(6): Show p.Pro470Leu	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	10/27	1996/7201	1409/3747	470/1248	chr12	TogoVar
APAF1_chr12_98640290_98740433	98683182	G G	C C	missense_variant missense_variant	MODERATE	HG02717.hp1 HG02717.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0012 a0008c0009t0012	a0008c0009t0012g0211 a0008c0009t0012g0211	1	366	0.0027	c.208 others(4): Show c.2086G>C	p.Asp others(6): Show p.Asp696His	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	15/27	2673/7201	2086/3747	696/1248	chr12	TogoVar
APAF1_chr12_98640290_98740433	98715542	C C	A A	missense_variant missense_variant	MODERATE	HG02572.hp1 HG02818.hp1 HG02572.hp1 HG02818.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0007 a0003c0005t0007	a0003c0005t0007g0219 a0003c0005t0007g0220 a0003c0005t0007g0219 a0003c0005t0007g0220	2	366	0.0055	c.307 others(4): Show c.3074C>A	p.Ala others(7): Show p.Ala1025Asp	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	22/27	3661/7201	3074/3747	1025/1248	chr12	TogoVar
APBA1_chr9_69422532_69677371	69516661	A A	C C	missense_variant missense_variant	MODERATE	HG00423.hp1 HG00597.hp1 HG01346.hp1 others(46): Show HG00423.hp1 HG00597.hp1 HG01346.hp1 HG01361.hp1 HG01884.hp1 HG02004.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02109.hp2 HG02132.hp2 HG02155.hp2 HG02257.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02602.hp1 HG02630.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG04184.hp2 HG04228.hp2 NA18612.hp2 NA18939.hp1 NA18944.hp1 NA18953.hp1 NA18982.hp2 NA18985.hp2 NA19043.hp1 NA19043.hp2 NA19074.hp1 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(9): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0009 a0002c0002t0016 a0002c0002t0017 a0002c0002t0018 a0002c0002t0019 a0002c0002t0023 a0002c0002t0027 a0002c0002t0030	a0002c0002t0001g0012 a0002c0002t0001g0101 a0002c0002t0002g0023 others(46): Show a0002c0002t0001g0012 a0002c0002t0001g0101 a0002c0002t0002g0023 a0002c0002t0002g0046 a0002c0002t0002g0081 a0002c0002t0002g0137 a0002c0002t0003g0013 a0002c0002t0003g0014 a0002c0002t0003g0015 a0002c0002t0003g0024 a0002c0002t0003g0082 a0002c0002t0003g0084 a0002c0002t0003g0102 a0002c0002t0003g0115 a0002c0002t0003g0119 a0002c0002t0003g0120 a0002c0002t0003g0128 a0002c0002t0003g0132 a0002c0002t0003g0136 a0002c0002t0003g0138 a0002c0002t0003g0141 a0002c0002t0003g0158 a0002c0002t0003g0171 a0002c0002t0003g0172 a0002c0002t0003g0183 a0002c0002t0003g0184 a0002c0002t0003g0190 a0002c0002t0003g0193 a0002c0002t0003g0194 a0002c0002t0003g0195 a0002c0002t0003g0197 a0002c0002t0003g0198 a0002c0002t0007g0008 a0002c0002t0007g0035 a0002c0002t0007g0048 a0002c0002t0007g0049 a0002c0002t0009g0001 a0002c0002t0009g0003 a0002c0002t0009g0004 a0002c0002t0009g0005 a0002c0002t0016g0145 a0002c0002t0016g0181 a0002c0002t0017g0205 a0002c0002t0017g0206 a0002c0002t0018g0002 a0002c0002t0019g0033 a0002c0002t0023g0011 a0002c0002t0027g0112 a0002c0002t0030g0067	49	210	0.2333	c.550 others(3): Show c.550T>G	p.Ser others(6): Show p.Ser184Ala	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	2/13	838/6597	550/2514	184/837	chr9	TogoVar
APBA1_chr9_69422532_69677371	69516686	G G	C C	missense_variant missense_variant	MODERATE	NA18985.hp1 NA18985.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0113 a0003c0007t0001g0113	1	210	0.0048	c.525 others(3): Show c.525C>G	p.Phe others(6): Show p.Phe175Leu	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	2/13	813/6597	525/2514	175/837	chr9	TogoVar
APBA1_chr9_69422532_69677371	69517123	C C	T T	missense_variant missense_variant	MODERATE	HG02155.hp1 HG02155.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0002 a0004c0003t0002	a0004c0003t0002g0177 a0004c0003t0002g0177	1	210	0.0048	c.88G others(2): Show c.88G>A	p.Glu others(5): Show p.Glu30Lys	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	2/13	376/6597	88/2514	30/837	chr9	TogoVar
APBA2_chr15_28880974_29123315	29054315	C C	T T	missense_variant missense_variant	MODERATE	HG02109.hp1 HG02109.hp1	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0006 a0004c0015t0006	a0004c0015t0006g0120 a0004c0015t0006g0120	1	204	0.0049	c.431 others(3): Show c.431C>T	p.Ser others(6): Show p.Ser144Leu	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	4/15	940/3941	431/2250	144/749	chr15	TogoVar
APBA2_chr15_28880974_29123315	29054387	C C	T T	missense_variant missense_variant	MODERATE	HG02129.hp2 NA18954.hp2 HG02129.hp2 NA18954.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0002 a0003c0008t0003 a0003c0008t0002 a0003c0008t0003	a0003c0008t0002g0141 a0003c0008t0003g0126 a0003c0008t0002g0141 a0003c0008t0003g0126	2	204	0.0098	c.503 others(3): Show c.503C>T	p.Pro others(6): Show p.Pro168Leu	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	4/15	1012/3941	503/2250	168/749	chr15	TogoVar
APBA2_chr15_28880974_29123315	29054516	G G	A A	missense_variant missense_variant	MODERATE	NA20300.hp2 NA20300.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0037 a0005c0010t0037	a0005c0010t0037g0175 a0005c0010t0037g0175	1	204	0.0049	c.632 others(3): Show c.632G>A	p.Arg others(6): Show p.Arg211His	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	4/15	1141/3941	632/2250	211/749	chr15	TogoVar
APBA2_chr15_28880974_29123315	29054816	T T	C C	missense_variant missense_variant	MODERATE	HG00323.hp2 HG00408.hp1 HG00597.hp2 others(89): Show HG00323.hp2 HG00408.hp1 HG00597.hp2 HG00639.hp1 HG00738.hp2 HG01071.hp1 HG01081.hp2 HG01167.hp2 HG01169.hp1 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02109.hp2 HG02129.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03831.hp1 HG04184.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18944.hp2 NA18953.hp2 NA18954.hp2 NA18956.hp2 NA18971.hp1 NA18986.hp2 NA19030.hp1 NA19030.hp2 NA19060.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA21309.hp2	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0002 a0002c0003 a0002c0004 others(8): Show a0002c0002 a0002c0003 a0002c0004 a0002c0005 a0002c0006 a0002c0012 a0002c0014 a0002c0016 a0002c0017 a0003c0008 a0005c0010	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(38): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009 a0002c0002t0010 a0002c0002t0011 a0002c0002t0012 a0002c0002t0015 a0002c0002t0019 a0002c0002t0020 a0002c0002t0021 a0002c0002t0023 a0002c0002t0026 a0002c0002t0032 a0002c0002t0041 a0002c0002t0043 a0002c0002t0045 a0002c0003t0006 a0002c0003t0012 a0002c0003t0013 a0002c0003t0018 a0002c0003t0038 a0002c0004t0004 a0002c0004t0009 a0002c0004t0022 a0002c0005t0001 a0002c0005t0004 a0002c0006t0016 a0002c0006t0017 a0002c0012t0010 a0002c0014t0035 a0002c0016t0036 a0002c0017t0034 a0003c0008t0002 a0003c0008t0003 a0005c0010t0037	a0002c0002t0001g0020 a0002c0002t0001g0050 a0002c0002t0001g0076 others(89): Show a0002c0002t0001g0020 a0002c0002t0001g0050 a0002c0002t0001g0076 a0002c0002t0002g0095 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0165 a0002c0002t0002g0180 a0002c0002t0003g0094 a0002c0002t0003g0101 a0002c0002t0003g0103 a0002c0002t0003g0143 a0002c0002t0003g0167 a0002c0002t0003g0172 a0002c0002t0003g0174 a0002c0002t0003g0182 a0002c0002t0003g0193 a0002c0002t0003g0204 a0002c0002t0004g0013 a0002c0002t0004g0025 a0002c0002t0004g0042 a0002c0002t0004g0086 a0002c0002t0004g0089 a0002c0002t0005g0012 a0002c0002t0005g0026 a0002c0002t0006g0003 a0002c0002t0006g0093 a0002c0002t0006g0098 a0002c0002t0006g0108 a0002c0002t0006g0118 a0002c0002t0006g0124 a0002c0002t0006g0130 a0002c0002t0006g0161 a0002c0002t0006g0178 a0002c0002t0006g0185 a0002c0002t0007g0002 a0002c0002t0007g0004 a0002c0002t0007g0115 a0002c0002t0007g0137 a0002c0002t0007g0140 a0002c0002t0008g0125 a0002c0002t0008g0192 a0002c0002t0008g0198 a0002c0002t0008g0201 a0002c0002t0008g0202 a0002c0002t0009g0111 a0002c0002t0009g0176 a0002c0002t0010g0072 a0002c0002t0010g0073 a0002c0002t0010g0074 a0002c0002t0011g0102 a0002c0002t0011g0110 a0002c0002t0011g0123 a0002c0002t0011g0171 a0002c0002t0012g0187 a0002c0002t0015g0084 a0002c0002t0015g0091 a0002c0002t0019g0132 a0002c0002t0020g0133 a0002c0002t0021g0040 a0002c0002t0023g0028 a0002c0002t0026g0090 a0002c0002t0032g0082 a0002c0002t0041g0119 a0002c0002t0043g0200 a0002c0002t0045g0113 a0002c0003t0006g0189 a0002c0003t0012g0092 a0002c0003t0013g0029 a0002c0003t0013g0081 a0002c0003t0018g0145 a0002c0003t0018g0146 a0002c0003t0038g0107 a0002c0004t0004g0069 a0002c0004t0009g0106 a0002c0004t0009g0121 a0002c0004t0022g0080 a0002c0005t0001g0053 a0002c0005t0001g0054 a0002c0005t0004g0022 a0002c0005t0004g0048 a0002c0006t0016g0099 a0002c0006t0016g0100 a0002c0006t0017g0114 a0002c0006t0017g0203 a0002c0012t0010g0027 a0002c0014t0035g0191 a0002c0016t0036g0001 a0002c0017t0034g0177 a0003c0008t0002g0141 a0003c0008t0003g0126 a0005c0010t0037g0175	92	204	0.4510	c.932 others(3): Show c.932T>C	p.Leu others(6): Show p.Leu311Pro	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	4/15	1441/3941	932/2250	311/749	chr15	TogoVar
APBA3_chr19_3745772_3766692	3751265	A A	G G	missense_variant missense_variant	MODERATE	NA18981.hp2 NA18981.hp2	a0023 a0023	a0023c0027 a0023c0027	a0023c0027t0001 a0023c0027t0001	a0023c0027t0001g0140 a0023c0027t0001g0140	1	450	0.0022	c.158 others(4): Show c.1580T>C	p.Ile others(6): Show p.Ile527Thr	APBA3	ENSG00000011132.12	transcript	ENST00000316757.4	protein_coding	10/11	1774/2176	1580/1728	527/575	chr19	TogoVar
APBA3_chr19_3745772_3766692	3751271	C C	T T	missense_variant missense_variant	MODERATE	NA19007.hp1 NA19007.hp1	a0022 a0022	a0022c0026 a0022c0026	a0022c0026t0001 a0022c0026t0001	a0022c0026t0001g0141 a0022c0026t0001g0141	1	450	0.0022	c.157 others(4): Show c.1574G>A	p.Arg others(6): Show p.Arg525His	APBA3	ENSG00000011132.12	transcript	ENST00000316757.4	protein_coding	10/11	1768/2176	1574/1728	525/575	chr19	TogoVar
APBA3_chr19_3745772_3766692	3751272	G G	A A	missense_variant missense_variant	MODERATE	NA18948.hp2 NA18965.hp2 NA18948.hp2 NA18965.hp2	a0019 a0020 a0019 a0020	a0019c0033 a0020c0034 a0019c0033 a0020c0034	a0019c0033t0001 a0020c0034t0001 a0019c0033t0001 a0020c0034t0001	a0019c0033t0001g0121 a0020c0034t0001g0179 a0019c0033t0001g0121 a0020c0034t0001g0179	2	450	0.0044	c.157 others(4): Show c.1573C>T	p.Arg others(6): Show p.Arg525Cys	APBA3	ENSG00000011132.12	transcript	ENST00000316757.4	protein_coding	10/11	1767/2176	1573/1728	525/575	chr19	TogoVar
APBA3_chr19_3745772_3766692	3751296	G G	A A	missense_variant missense_variant	MODERATE	HG02818.hp2 HG02818.hp2	a0016 a0016	a0016c0022 a0016c0022	a0016c0022t0003 a0016c0022t0003	a0016c0022t0003g0174 a0016c0022t0003g0174	1	450	0.0022	c.154 others(4): Show c.1549C>T	p.Arg others(6): Show p.Arg517Cys	APBA3	ENSG00000011132.12	transcript	ENST00000316757.4	protein_coding	10/11	1743/2176	1549/1728	517/575	chr19	TogoVar
APBA3_chr19_3745772_3766692	3752594	C C	T T	missense_variant missense_variant	MODERATE	HG02976.hp1 HG03516.hp2 HG02976.hp1 HG03516.hp2	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0001 a0010c0015t0001	a0010c0015t0001g0162 a0010c0015t0001g0173 a0010c0015t0001g0162 a0010c0015t0001g0173	2	450	0.0044	c.130 others(4): Show c.1309G>A	p.Ala others(6): Show p.Ala437Thr	APBA3	ENSG00000011132.12	transcript	ENST00000316757.4	protein_coding	8/11	1503/2176	1309/1728	437/575	chr19	TogoVar
APBA3_chr19_3745772_3766692	3752603	G G	A A	missense_variant missense_variant	MODERATE	HG01106.hp2 HG01361.hp1 HG01496.hp2 others(2): Show HG01106.hp2 HG01361.hp1 HG01496.hp2 HG03225.hp2 HG03540.hp2	a0005 a0005	a0005c0008 a0005c0032 a0005c0008 a0005c0032	a0005c0008t0002 a0005c0032t0001 a0005c0008t0002 a0005c0032t0001	a0005c0008t0002g0040 a0005c0008t0002g0102 a0005c0008t0002g0103 others(1): Show a0005c0008t0002g0040 a0005c0008t0002g0102 a0005c0008t0002g0103 a0005c0032t0001g0144	5	450	0.0111	c.130 others(4): Show c.1300C>T	p.Arg others(6): Show p.Arg434Cys	APBA3	ENSG00000011132.12	transcript	ENST00000316757.4	protein_coding	8/11	1494/2176	1300/1728	434/575	chr19	TogoVar
APBA3_chr19_3745772_3766692	3752639	C C	T T	missense_variant missense_variant	MODERATE	NA18965.hp2 NA18965.hp2	a0019 a0019	a0019c0033 a0019c0033	a0019c0033t0001 a0019c0033t0001	a0019c0033t0001g0121 a0019c0033t0001g0121	1	450	0.0022	c.126 others(4): Show c.1264G>A	p.Val others(6): Show p.Val422Ile	APBA3	ENSG00000011132.12	transcript	ENST00000316757.4	protein_coding	8/11	1458/2176	1264/1728	422/575	chr19	TogoVar
APBA3_chr19_3745772_3766692	3752713	A A	T T	missense_variant missense_variant	MODERATE	NA18941.hp2 NA18941.hp2	a0021 a0021	a0021c0025 a0021c0025	a0021c0025t0002 a0021c0025t0002	a0021c0025t0002g0074 a0021c0025t0002g0074	1	450	0.0022	c.119 others(4): Show c.1190T>A	p.Leu others(6): Show p.Leu397His	APBA3	ENSG00000011132.12	transcript	ENST00000316757.4	protein_coding	8/11	1384/2176	1190/1728	397/575	chr19	TogoVar
APBA3_chr19_3745772_3766692	3752863	T T	C C	missense_variant missense_variant	MODERATE	HG01346.hp1 HG01346.hp1	a0024 a0024	a0024c0028 a0024c0028	a0024c0028t0001 a0024c0028t0001	a0024c0028t0001g0142 a0024c0028t0001g0142	1	450	0.0022	c.113 others(4): Show c.1139A>G	p.Asn others(6): Show p.Asn380Ser	APBA3	ENSG00000011132.12	transcript	ENST00000316757.4	protein_coding	7/11	1333/2176	1139/1728	380/575	chr19	TogoVar
APBA3_chr19_3745772_3766692	3752876	A A	C C	missense_variant missense_variant	MODERATE	HG01891.hp2 HG02055.hp2 HG02145.hp1 others(10): Show HG01891.hp2 HG02055.hp2 HG02145.hp1 HG02280.hp2 HG02615.hp1 HG02647.hp1 HG02809.hp1 HG02818.hp2 HG02965.hp2 HG03486.hp1 NA18522.hp1 NA19030.hp2 NA19240.hp1	a0003 a0012 a0016 a0003 a0012 a0016	a0003c0006 a0003c0017 a0012c0013 others(1): Show a0003c0006 a0003c0017 a0012c0013 a0016c0022	a0003c0006t0002 a0003c0006t0015 a0003c0017t0009 others(2): Show a0003c0006t0002 a0003c0006t0015 a0003c0017t0009 a0012c0013t0002 a0016c0022t0003	a0003c0006t0002g0021 a0003c0006t0002g0083 a0003c0006t0002g0084 others(7): Show a0003c0006t0002g0021 a0003c0006t0002g0083 a0003c0006t0002g0084 a0003c0006t0002g0105 a0003c0006t0002g0107 a0003c0006t0015g0177 a0003c0017t0009g0200 a0003c0017t0009g0201 a0012c0013t0002g0033 a0016c0022t0003g0174	13	450	0.0289	c.112 others(4): Show c.1126T>G	p.Cys others(6): Show p.Cys376Gly	APBA3	ENSG00000011132.12	transcript	ENST00000316757.4	protein_coding	7/11	1320/2176	1126/1728	376/575	chr19	TogoVar
APBA3_chr19_3745772_3766692	3752876	A A	G G	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(255): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02698.hp1 HG02717.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18989.hp1 NA18989.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp2 NA19056.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0006 others(11): Show a0001 a0005 a0006 a0007 a0008 a0009 a0014 a0017 a0018 a0021 a0022 a0023 a0024 a0027	a0001c0002 a0001c0003 a0001c0004 others(17): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0030 a0001c0031 a0005c0008 a0005c0032 a0006c0011 a0007c0010 a0008c0009 a0009c0016 a0014c0038 a0017c0021 a0018c0024 a0021c0025 a0022c0026 a0023c0027 a0024c0028 a0027c0020	a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 others(31): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0008 a0001c0003t0011 a0001c0004t0001 a0001c0004t0002 a0001c0004t0005 a0001c0004t0006 a0001c0004t0014 a0001c0005t0001 a0001c0005t0002 a0001c0005t0004 a0001c0030t0001 a0001c0031t0003 a0005c0008t0002 a0005c0032t0001 a0006c0011t0002 a0007c0010t0002 a0008c0009t0002 a0009c0016t0001 a0009c0016t0002 a0014c0038t0002 a0017c0021t0002 a0018c0024t0003 a0021c0025t0002 a0022c0026t0001 a0023c0027t0001 a0024c0028t0001 a0027c0020t0002	a0001c0002t0001g0002 a0001c0002t0001g0024 a0001c0002t0001g0025 others(109): 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 a0001c0003t0001g0050 a0001c0003t0002g0056 a0001c0003t0003g0003 a0001c0003t0003g0046 a0001c0003t0003g0049 a0001c0003t0003g0051 a0001c0003t0003g0134 a0001c0003t0003g0152 a0001c0003t0003g0153 a0001c0003t0003g0166 a0001c0003t0003g0169 a0001c0003t0003g0171 a0001c0003t0003g0178 a0001c0003t0003g0192 a0001c0003t0003g0193 a0001c0003t0004g0009 a0001c0003t0004g0029 a0001c0003t0004g0038 a0001c0003t0005g0081 a0001c0003t0008g0167 a0001c0003t0008g0175 a0001c0003t0011g0114 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 a0001c0030t0001g0159 a0001c0031t0003g0168 a0005c0008t0002g0040 a0005c0008t0002g0102 a0005c0008t0002g0103 a0005c0032t0001g0144 a0006c0011t0002g0055 a0006c0011t0002g0086 a0006c0011t0002g0087 a0007c0010t0002g0036 a0007c0010t0002g0096 a0008c0009t0002g0031 a0008c0009t0002g0088 a0009c0016t0001g0170 a0009c0016t0002g0098 a0014c0038t0002g0113 a0017c0021t0002g0104 a0018c0024t0003g0180 a0021c0025t0002g0074 a0022c0026t0001g0141 a0023c0027t0001g0140 a0024c0028t0001g0142 a0027c0020t0002g0090	258	450	0.5733	c.112 others(4): Show c.1126T>C	p.Cys others(6): Show p.Cys376Arg	APBA3	ENSG00000011132.12	transcript	ENST00000316757.4	protein_coding	7/11	1320/2176	1126/1728	376/575	chr19	TogoVar
APBA3_chr19_3745772_3766692	3752929	C C	T T	missense_variant missense_variant	MODERATE	HG03654.hp2 HG03710.hp2 HG03654.hp2 HG03710.hp2	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0001 a0009c0016t0002 a0009c0016t0001 a0009c0016t0002	a0009c0016t0001g0170 a0009c0016t0002g0098 a0009c0016t0001g0170 a0009c0016t0002g0098	2	450	0.0044	c.107 others(4): Show c.1073G>A	p.Arg others(6): Show p.Arg358Gln	APBA3	ENSG00000011132.12	transcript	ENST00000316757.4	protein_coding	7/11	1267/2176	1073/1728	358/575	chr19	TogoVar
APBA3_chr19_3745772_3766692	3753818	C C	T T	missense_variant missense_variant	MODERATE	HG01943.hp1 NA18973.hp2 NA18981.hp1 HG01943.hp1 NA18973.hp2 NA18981.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0002 a0007c0010t0002	a0007c0010t0002g0036 a0007c0010t0002g0096 a0007c0010t0002g0036 a0007c0010t0002g0096	3	450	0.0067	c.958 others(3): Show c.958G>A	p.Asp others(6): Show p.Asp320Asn	APBA3	ENSG00000011132.12	transcript	ENST00000316757.4	protein_coding	6/11	1152/2176	958/1728	320/575	chr19	TogoVar
APBA3_chr19_3745772_3766692	3754041	T T	G G	missense_variant missense_variant	MODERATE	NA18944.hp1 NA18944.hp1	a0025 a0025	a0025c0037 a0025c0037	a0025c0037t0001 a0025c0037t0001	a0025c0037t0001g0158 a0025c0037t0001g0158	1	450	0.0022	c.827 others(3): Show c.827A>C	p.Lys others(6): Show p.Lys276Thr	APBA3	ENSG00000011132.12	transcript	ENST00000316757.4	protein_coding	5/11	1021/2176	827/1728	276/575	chr19	TogoVar
APBA3_chr19_3745772_3766692	3754073	C C	A A	missense_variant missense_variant	MODERATE	HG03540.hp1 HG03540.hp1	a0014 a0014	a0014c0038 a0014c0038	a0014c0038t0002 a0014c0038t0002	a0014c0038t0002g0113 a0014c0038t0002g0113	1	450	0.0022	c.795 others(3): Show c.795G>T	p.Glu others(6): Show p.Glu265Asp	APBA3	ENSG00000011132.12	transcript	ENST00000316757.4	protein_coding	5/11	989/2176	795/1728	265/575	chr19	TogoVar
APBA3_chr19_3745772_3766692	3754232	C C	T T	missense_variant missense_variant	MODERATE	NA19058.hp2 NA19058.hp2	a0018 a0018	a0018c0024 a0018c0024	a0018c0024t0003 a0018c0024t0003	a0018c0024t0003g0180 a0018c0024t0003g0180	1	450	0.0022	c.725 others(3): Show c.725G>A	p.Arg others(6): Show p.Arg242His	APBA3	ENSG00000011132.12	transcript	ENST00000316757.4	protein_coding	4/11	919/2176	725/1728	242/575	chr19	TogoVar
APBA3_chr19_3745772_3766692	3754254	G G	A A	missense_variant missense_variant	MODERATE	HG02717.hp1 HG02717.hp1	a0027 a0027	a0027c0020 a0027c0020	a0027c0020t0002 a0027c0020t0002	a0027c0020t0002g0090 a0027c0020t0002g0090	1	450	0.0022	c.703 others(3): Show c.703C>T	p.Arg others(6): Show p.Arg235Trp	APBA3	ENSG00000011132.12	transcript	ENST00000316757.4	protein_coding	4/11	897/2176	703/1728	235/575	chr19	TogoVar
APBA3_chr19_3745772_3766692	3754340	A A	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01891.hp2 HG02055.hp2 HG02145.hp1 others(14): Show HG01891.hp2 HG02055.hp2 HG02145.hp1 HG02280.hp2 HG02559.hp1 HG02615.hp1 HG02647.hp1 HG02809.hp1 HG02818.hp2 HG02922.hp2 HG02965.hp2 HG03130.hp2 HG03486.hp1 HG03516.hp1 NA18522.hp1 NA19030.hp2 NA19240.hp1	a0003 a0011 a0012 others(3): Show a0003 a0011 a0012 a0015 a0016 a0017	a0003c0006 a0003c0017 a0011c0014 others(4): Show a0003c0006 a0003c0017 a0011c0014 a0012c0013 a0015c0023 a0016c0022 a0017c0021	a0003c0006t0002 a0003c0006t0015 a0003c0017t0009 others(5): Show a0003c0006t0002 a0003c0006t0015 a0003c0017t0009 a0011c0014t0002 a0012c0013t0002 a0015c0023t0002 a0016c0022t0003 a0017c0021t0002	a0003c0006t0002g0021 a0003c0006t0002g0083 a0003c0006t0002g0084 others(10): Show a0003c0006t0002g0021 a0003c0006t0002g0083 a0003c0006t0002g0084 a0003c0006t0002g0105 a0003c0006t0002g0107 a0003c0006t0015g0177 a0003c0017t0009g0200 a0003c0017t0009g0201 a0011c0014t0002g0032 a0012c0013t0002g0033 a0015c0023t0002g0057 a0016c0022t0003g0174 a0017c0021t0002g0104	17	450	0.0378	c.617 others(3): Show c.617T>G	p.Val others(6): Show p.Val206Gly	APBA3	ENSG00000011132.12	transcript	ENST00000316757.4	protein_coding	4/11	811/2176	617/1728	206/575	chr19	TogoVar
APBA3_chr19_3745772_3766692	3759567	G G	C C	missense_variant missense_variant	MODERATE	HG03540.hp1 HG03540.hp1	a0014 a0014	a0014c0038 a0014c0038	a0014c0038t0002 a0014c0038t0002	a0014c0038t0002g0113 a0014c0038t0002g0113	1	450	0.0022	c.610 others(3): Show c.610C>G	p.Gln others(6): Show p.Gln204Glu	APBA3	ENSG00000011132.12	transcript	ENST00000316757.4	protein_coding	3/11	804/2176	610/1728	204/575	chr19	TogoVar
APBA3_chr19_3745772_3766692	3759700	C C	T T	missense_variant missense_variant	MODERATE	HG02809.hp1 HG02922.hp2 HG03130.hp2 others(1): Show HG02809.hp1 HG02922.hp2 HG03130.hp2 NA19240.hp1	a0011 a0012 a0011 a0012	a0011c0014 a0012c0013 a0011c0014 a0012c0013	a0011c0014t0002 a0012c0013t0002 a0011c0014t0002 a0012c0013t0002	a0011c0014t0002g0032 a0012c0013t0002g0033 a0011c0014t0002g0032 a0012c0013t0002g0033	4	450	0.0089	c.565 others(3): Show c.565G>A	p.Ala others(6): Show p.Ala189Thr	APBA3	ENSG00000011132.12	transcript	ENST00000316757.4	protein_coding	2/11	759/2176	565/1728	189/575	chr19	TogoVar
APBA3_chr19_3745772_3766692	3759753	G G	T T	missense_variant missense_variant	MODERATE	HG01243.hp1 HG02451.hp2 HG02717.hp1 others(2): Show HG01243.hp1 HG02451.hp2 HG02717.hp1 HG02886.hp1 HG03579.hp2	a0008 a0026 a0027 a0008 a0026 a0027	a0008c0009 a0026c0019 a0027c0020 a0008c0009 a0026c0019 a0027c0020	a0008c0009t0002 a0026c0019t0002 a0027c0020t0002 a0008c0009t0002 a0026c0019t0002 a0027c0020t0002	a0008c0009t0002g0031 a0008c0009t0002g0088 a0026c0019t0002g0089 others(1): Show a0008c0009t0002g0031 a0008c0009t0002g0088 a0026c0019t0002g0089 a0027c0020t0002g0090	5	450	0.0111	c.512 others(3): Show c.512C>A	p.Ser others(6): Show p.Ser171Tyr	APBA3	ENSG00000011132.12	transcript	ENST00000316757.4	protein_coding	2/11	706/2176	512/1728	171/575	chr19	TogoVar
APBA3_chr19_3745772_3766692	3759804	C C	A A	missense_variant missense_variant	MODERATE	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.461 others(3): Show c.461G>T	p.Trp others(6): Show p.Trp154Leu	APBA3	ENSG00000011132.12	transcript	ENST00000316757.4	protein_coding	2/11	655/2176	461/1728	154/575	chr19	TogoVar
APBA3_chr19_3745772_3766692	3760108	C C	G G	missense_variant missense_variant	MODERATE	HG02257.hp2 HG02970.hp1 HG02257.hp2 HG02970.hp1	a0013 a0013	a0013c0012 a0013c0012	a0013c0012t0001 a0013c0012t0001	a0013c0012t0001g0125 a0013c0012t0001g0126 a0013c0012t0001g0125 a0013c0012t0001g0126	2	450	0.0044	c.157 others(3): Show c.157G>C	p.Asp others(5): Show p.Asp53His	APBA3	ENSG00000011132.12	transcript	ENST00000316757.4	protein_coding	2/11	351/2176	157/1728	53/575	chr19	TogoVar
APBB1IP_chr10_26433341_26572803	26536203	A A	C C	missense_variant missense_variant	MODERATE	NA18950.hp2 NA18950.hp2	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0001 a0011c0012t0001	a0011c0012t0001g0207 a0011c0012t0001g0207	1	358	0.0028	c.103 others(4): Show c.1030A>C	p.Lys others(6): Show p.Lys344Gln	APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	10/15	1347/2633	1030/2001	344/666	chr10	TogoVar
APBB1IP_chr10_26433341_26572803	26560159	A A	G G	missense_variant missense_variant	MODERATE	HG01099.hp2 HG01106.hp2 HG02280.hp1 others(4): Show HG01099.hp2 HG01106.hp2 HG02280.hp1 HG02486.hp1 HG02559.hp1 HG02647.hp1 NA19030.hp2	a0003 a0009 a0003 a0009	a0003c0003 a0003c0015 a0009c0011 a0003c0003 a0003c0015 a0009c0011	a0003c0003t0001 a0003c0003t0002 a0003c0015t0001 others(1): Show a0003c0003t0001 a0003c0003t0002 a0003c0015t0001 a0009c0011t0002	a0003c0003t0001g0110 a0003c0003t0001g0216 a0003c0003t0001g0217 others(4): Show a0003c0003t0001g0110 a0003c0003t0001g0216 a0003c0003t0001g0217 a0003c0003t0002g0302 a0003c0003t0002g0349 a0003c0015t0001g0218 a0009c0011t0002g0356	7	358	0.0196	c.121 others(4): Show c.1210A>G	p.Thr others(6): Show p.Thr404Ala	APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	12/15	1527/2633	1210/2001	404/666	chr10	TogoVar
APBB1IP_chr10_26433341_26572803	26560760	C C	T T	missense_variant missense_variant	MODERATE	HG03579.hp1 NA19030.hp1 HG03579.hp1 NA19030.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0102 a0008c0009t0001g0105 a0008c0009t0001g0102 a0008c0009t0001g0105	2	358	0.0056	c.128 others(4): Show c.1285C>T	p.Arg others(6): Show p.Arg429Trp	APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	13/15	1602/2633	1285/2001	429/666	chr10	TogoVar
APBB1IP_chr10_26433341_26572803	26567026	G G	C C	missense_variant missense_variant	MODERATE	HG02055.hp2 HG02109.hp2 HG02886.hp2 HG02055.hp2 HG02109.hp2 HG02886.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0002 a0005c0004t0001 a0005c0004t0002	a0005c0004t0001g0192 a0005c0004t0002g0289 a0005c0004t0002g0301 a0005c0004t0001g0192 a0005c0004t0002g0289 a0005c0004t0002g0301	3	358	0.0084	c.153 others(4): Show c.1539G>C	p.Lys others(6): Show p.Lys513Asn	APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	15/15	1856/2633	1539/2001	513/666	chr10	TogoVar
APBB1IP_chr10_26433341_26572803	26567075	G G	T T	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0198 a0006c0008t0001g0248 a0006c0008t0001g0198 a0006c0008t0001g0248	2	358	0.0056	c.158 others(4): Show c.1588G>T	p.Gly others(6): Show p.Gly530Cys	APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	15/15	1905/2633	1588/2001	530/666	chr10	TogoVar
APBB1IP_chr10_26433341_26572803	26567336	G G	A A	missense_variant missense_variant	MODERATE	HG01106.hp2 HG01884.hp2 HG02258.hp2 others(11): Show HG01106.hp2 HG01884.hp2 HG02258.hp2 HG02559.hp2 HG02615.hp1 HG02723.hp1 HG02818.hp2 HG02965.hp1 HG03139.hp2 HG03195.hp2 HG03471.hp1 HG03579.hp2 NA18522.hp2 NA20129.hp2	a0002 a0009 a0002 a0009	a0002c0002 a0002c0006 a0009c0011 a0002c0002 a0002c0006 a0009c0011	a0002c0002t0001 a0002c0002t0002 a0002c0006t0002 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0006t0002 a0009c0011t0002	a0002c0002t0001g0144 a0002c0002t0001g0147 a0002c0002t0001g0162 others(11): Show a0002c0002t0001g0144 a0002c0002t0001g0147 a0002c0002t0001g0162 a0002c0002t0001g0194 a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0283 a0002c0002t0002g0340 a0002c0002t0002g0341 a0002c0002t0002g0342 a0002c0006t0002g0307 a0002c0006t0002g0308 a0002c0006t0002g0339 a0009c0011t0002g0356	14	358	0.0391	c.184 others(4): Show c.1849G>A	p.Ala others(6): Show p.Ala617Thr	APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	15/15	2166/2633	1849/2001	617/666	chr10	TogoVar
APBB1IP_chr10_26433341_26572803	26567352	C C	T T	missense_variant missense_variant	MODERATE	HG03540.hp1 NA21309.hp1 HG03540.hp1 NA21309.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0002 a0007c0007t0001 a0007c0007t0002	a0007c0007t0001g0167 a0007c0007t0002g0309 a0007c0007t0001g0167 a0007c0007t0002g0309	2	358	0.0056	c.186 others(4): Show c.1865C>T	p.Ala others(6): Show p.Ala622Val	APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	15/15	2182/2633	1865/2001	622/666	chr10	TogoVar
APBB1_chr11_6390125_6424094	6403168	G G	A A	missense_variant missense_variant	MODERATE	HG02280.hp1 HG02280.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0256 a0005c0011t0001g0256	1	416	0.0024	c.108 others(4): Show c.1081C>T	p.Arg others(6): Show p.Arg361Trp	APBB1	ENSG00000166313.20	transcript	ENST00000609360.6	protein_coding	6/15	1205/2666	1081/2133	361/710	chr11	TogoVar
APBB1_chr11_6390125_6424094	6410764	A A	C C	missense_variant missense_variant	MODERATE	HG02622.hp2 HG02622.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0290 a0006c0009t0001g0290	1	416	0.0024	c.584 others(3): Show c.584T>G	p.Leu others(6): Show p.Leu195Arg	APBB1	ENSG00000166313.20	transcript	ENST00000609360.6	protein_coding	2/15	708/2666	584/2133	195/710	chr11	TogoVar
APBB1_chr11_6390125_6424094	6410779	G G	A A	missense_variant missense_variant	MODERATE	HG02559.hp2 HG02559.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0001 a0004c0012t0001	a0004c0012t0001g0341 a0004c0012t0001g0341	1	416	0.0024	c.569 others(3): Show c.569C>T	p.Pro others(6): Show p.Pro190Leu	APBB1	ENSG00000166313.20	transcript	ENST00000609360.6	protein_coding	2/15	693/2666	569/2133	190/710	chr11	TogoVar
APBB1_chr11_6390125_6424094	6410859	A A	C C	missense_variant missense_variant	MODERATE	NA20752.hp1 NA20752.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0146 a0007c0008t0001g0146	1	416	0.0024	c.489 others(3): Show c.489T>G	p.Asp others(6): Show p.Asp163Glu	APBB1	ENSG00000166313.20	transcript	ENST00000609360.6	protein_coding	2/15	613/2666	489/2133	163/710	chr11	TogoVar
APBB1_chr11_6390125_6424094	6411197	G G	A A	missense_variant missense_variant	MODERATE	HG01099.hp1 HG01192.hp1 HG01346.hp2 others(3): Show HG01099.hp1 HG01192.hp1 HG01346.hp2 HG01361.hp1 HG02273.hp2 HG02300.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0180 a0002c0003t0001g0181 a0002c0003t0001g0182 others(3): Show a0002c0003t0001g0180 a0002c0003t0001g0181 a0002c0003t0001g0182 a0002c0003t0001g0201 a0002c0003t0001g0224 a0002c0003t0001g0321	6	416	0.0144	c.151 others(3): Show c.151C>T	p.Arg others(5): Show p.Arg51Cys	APBB1	ENSG00000166313.20	transcript	ENST00000609360.6	protein_coding	2/15	275/2666	151/2133	51/710	chr11	TogoVar
APBB1_chr11_6390125_6424094	6411341	C C	T T	missense_variant missense_variant	MODERATE	NA18972.hp2 NA18990.hp1 NA18991.hp1 others(1): Show NA18972.hp2 NA18990.hp1 NA18991.hp1 NA19012.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0007 a0003c0005t0001g0116 a0003c0005t0001g0007 a0003c0005t0001g0116	4	416	0.0096	c.7G> others(1): Show c.7G>A	p.Val others(4): Show p.Val3Ile	APBB1	ENSG00000166313.20	transcript	ENST00000609360.6	protein_coding	2/15	131/2666	7/2133	3/710	chr11	TogoVar
APBB2_chr4_40805027_41219542	40816162	T T	C C	missense_variant missense_variant	MODERATE	HG00642.hp1 HG01069.hp2 HG01109.hp2 HG00642.hp1 HG01069.hp2 HG01109.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0015 a0003c0006t0015	a0003c0006t0015g0081 a0003c0006t0015g0082 a0003c0006t0015g0131 a0003c0006t0015g0081 a0003c0006t0015g0082 a0003c0006t0015g0131	3	192	0.0156	c.221 others(4): Show c.2210A>G	p.Asn others(6): Show p.Asn737Ser	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	18/18	2764/8899	2210/2280	737/759	chr4	TogoVar
APBB2_chr4_40805027_41219542	41013849	G G	T T	missense_variant missense_variant	MODERATE	NA21309.hp2 NA21309.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0007 a0004c0007t0007	a0004c0007t0007g0056 a0004c0007t0007g0056	1	192	0.0052	c.569 others(3): Show c.569C>A	p.Ser others(6): Show p.Ser190Tyr	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/18	1123/8899	569/2280	190/759	chr4	TogoVar

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