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
AQP12A_chr2_240686866_240703483	240692167	G G	T T	missense_variant missense_variant	MODERATE	HG03669.hp2 HG03669.hp2	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0001 a0012c0018t0001	a0012c0018t0001g0070 a0012c0018t0001g0070	1	171	0.0059	c.217 others(3): Show c.217G>T	p.Val others(5): Show p.Val73Phe	AQP12A	ENSG00000184945.15	transcript	ENST00000337801.9	protein_coding	2/4	265/1063	217/888	73/295	chr2	TogoVar
AQP12A_chr2_240686866_240703483	240692171	C C	T T	missense_variant missense_variant	MODERATE	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0001 a0009c0015t0001	a0009c0015t0001g0001 a0009c0015t0001g0001	2	171	0.0117	c.221 others(3): Show c.221C>T	p.Thr others(5): Show p.Thr74Ile	AQP12A	ENSG00000184945.15	transcript	ENST00000337801.9	protein_coding	2/4	269/1063	221/888	74/295	chr2	TogoVar
AQP12A_chr2_240686866_240703483	240692230	C C	G G	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00408.hp2 HG00438.hp1 others(51): Show HG00099.hp1 HG00408.hp2 HG00438.hp1 HG00597.hp1 HG00738.hp2 HG01069.hp2 HG01081.hp1 HG01168.hp2 HG01256.hp1 HG01433.hp2 HG01496.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02148.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02572.hp1 HG02738.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03669.hp2 HG03704.hp1 HG03834.hp2 HG04115.hp2 HG06807.hp2 NA18906.hp2 NA18942.hp2 NA18950.hp1 NA18952.hp1 NA18967.hp1 NA18967.hp2 NA18986.hp1 NA18993.hp2 NA18999.hp2 NA19004.hp2 NA19010.hp1 NA19064.hp2 NA19065.hp1 NA19070.hp1 NA19082.hp1	a0002 a0005 a0008 others(5): Show a0002 a0005 a0008 a0010 a0012 a0013 a0016 a0017	a0002c0002 a0002c0007 a0005c0004 others(6): Show a0002c0002 a0002c0007 a0005c0004 a0008c0011 a0010c0012 a0012c0018 a0013c0023 a0016c0017 a0017c0025	a0002c0002t0002 a0002c0007t0002 a0005c0004t0002 others(6): Show a0002c0002t0002 a0002c0007t0002 a0005c0004t0002 a0008c0011t0002 a0010c0012t0002 a0012c0018t0001 a0013c0023t0001 a0016c0017t0002 a0017c0025t0002	a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0008 others(22): Show a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0008 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0007t0002g0003 a0002c0007t0002g0014 a0002c0007t0002g0031 a0002c0007t0002g0035 a0002c0007t0002g0037 a0005c0004t0002g0007 a0005c0004t0002g0015 a0005c0004t0002g0026 a0005c0004t0002g0027 a0005c0004t0002g0033 a0005c0004t0002g0034 a0005c0004t0002g0036 a0005c0004t0002g0039 a0008c0011t0002g0013 a0010c0012t0002g0016 a0012c0018t0001g0070 a0013c0023t0001g0038 a0016c0017t0002g0025 a0017c0025t0002g0032	54	171	0.3158	c.280 others(3): Show c.280C>G	p.Gln others(5): Show p.Gln94Glu	AQP12A	ENSG00000184945.15	transcript	ENST00000337801.9	protein_coding	2/4	328/1063	280/888	94/295	chr2	TogoVar
AQP12A_chr2_240686866_240703483	240692300	T T	C C	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00408.hp2 HG00438.hp1 others(49): Show HG00099.hp1 HG00408.hp2 HG00438.hp1 HG00597.hp1 HG00738.hp2 HG01069.hp2 HG01081.hp1 HG01168.hp2 HG01256.hp1 HG01433.hp2 HG01496.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02148.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02572.hp1 HG02738.hp1 HG02896.hp1 HG02897.hp1 HG02976.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03669.hp2 HG03704.hp1 HG03834.hp2 HG04115.hp2 HG06807.hp2 NA18906.hp2 NA18942.hp2 NA18950.hp1 NA18952.hp1 NA18967.hp1 NA18967.hp2 NA18986.hp1 NA18993.hp2 NA18999.hp2 NA19004.hp2 NA19010.hp1 NA19064.hp2 NA19065.hp1 NA19070.hp1 NA19082.hp1	a0002 a0005 a0008 others(4): Show a0002 a0005 a0008 a0012 a0013 a0016 a0017	a0002c0002 a0002c0007 a0005c0004 others(5): Show a0002c0002 a0002c0007 a0005c0004 a0008c0011 a0012c0018 a0013c0023 a0016c0017 a0017c0025	a0002c0002t0002 a0002c0007t0002 a0005c0004t0002 others(5): Show a0002c0002t0002 a0002c0007t0002 a0005c0004t0002 a0008c0011t0002 a0012c0018t0001 a0013c0023t0001 a0016c0017t0002 a0017c0025t0002	a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0008 others(21): Show a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0008 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0007t0002g0003 a0002c0007t0002g0014 a0002c0007t0002g0031 a0002c0007t0002g0035 a0002c0007t0002g0037 a0005c0004t0002g0007 a0005c0004t0002g0015 a0005c0004t0002g0026 a0005c0004t0002g0027 a0005c0004t0002g0033 a0005c0004t0002g0034 a0005c0004t0002g0036 a0005c0004t0002g0039 a0008c0011t0002g0013 a0012c0018t0001g0070 a0013c0023t0001g0038 a0016c0017t0002g0025 a0017c0025t0002g0032	52	171	0.3041	c.350 others(3): Show c.350T>C	p.Met others(6): Show p.Met117Thr	AQP12A	ENSG00000184945.15	transcript	ENST00000337801.9	protein_coding	2/4	398/1063	350/888	117/295	chr2	TogoVar
AQP12A_chr2_240686866_240703483	240692381	G G	C C	missense_variant missense_variant	MODERATE	HG01123.hp1 HG01123.hp2 HG01358.hp1 others(2): Show HG01123.hp1 HG01123.hp2 HG01358.hp1 HG01433.hp1 HG02055.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0002 a0007c0008t0001g0022 a0007c0008t0001g0002 a0007c0008t0001g0022	5	171	0.0292	c.431 others(3): Show c.431G>C	p.Arg others(6): Show p.Arg144Pro	AQP12A	ENSG00000184945.15	transcript	ENST00000337801.9	protein_coding	2/4	479/1063	431/888	144/295	chr2	TogoVar
AQP12A_chr2_240686866_240703483	240692422	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(25): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00639.hp1 HG01069.hp1 HG01081.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG03490.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp2 NA20129.hp1 NA20129.hp2	a0003 a0007 a0011 others(2): Show a0003 a0007 a0011 a0012 a0016	a0003c0003 a0003c0019 a0007c0008 others(3): Show a0003c0003 a0003c0019 a0007c0008 a0011c0014 a0012c0018 a0016c0017	a0003c0003t0001 a0003c0019t0001 a0007c0008t0001 others(3): Show a0003c0003t0001 a0003c0019t0001 a0007c0008t0001 a0011c0014t0001 a0012c0018t0001 a0016c0017t0002	a0003c0003t0001g0002 a0003c0003t0001g0022 a0003c0003t0001g0063 others(7): Show a0003c0003t0001g0002 a0003c0003t0001g0022 a0003c0003t0001g0063 a0003c0003t0001g0064 a0003c0019t0001g0002 a0007c0008t0001g0002 a0007c0008t0001g0022 a0011c0014t0001g0023 a0012c0018t0001g0070 a0016c0017t0002g0025	28	171	0.1637	c.472 others(3): Show c.472G>A	p.Ala others(6): Show p.Ala158Thr	AQP12A	ENSG00000184945.15	transcript	ENST00000337801.9	protein_coding	2/4	520/1063	472/888	158/295	chr2	TogoVar
AQP12A_chr2_240686866_240703483	240692510	C C	T T	missense_variant missense_variant	MODERATE	HG03669.hp2 HG03669.hp2	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0001 a0012c0018t0001	a0012c0018t0001g0070 a0012c0018t0001g0070	1	171	0.0059	c.560 others(3): Show c.560C>T	p.Thr others(6): Show p.Thr187Met	AQP12A	ENSG00000184945.15	transcript	ENST00000337801.9	protein_coding	2/4	608/1063	560/888	187/295	chr2	TogoVar
AQP12A_chr2_240686866_240703483	240692519	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00323.hp2 HG02280.hp1 HG02451.hp1 others(9): Show HG00323.hp2 HG02280.hp1 HG02451.hp1 HG02622.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG03540.hp2 NA18950.hp2 NA18966.hp1 NA19062.hp2	a0006 a0006	a0006c0005 a0006c0013 a0006c0005 a0006c0013	a0006c0005t0001 a0006c0013t0001 a0006c0005t0001 a0006c0013t0001	a0006c0005t0001g0006 a0006c0005t0001g0012 a0006c0005t0001g0024 others(3): Show a0006c0005t0001g0006 a0006c0005t0001g0012 a0006c0005t0001g0024 a0006c0005t0001g0065 a0006c0013t0001g0006 a0006c0013t0001g0066	12	171	0.0702	c.569 others(3): Show c.569C>T	p.Thr others(6): Show p.Thr190Met	AQP12A	ENSG00000184945.15	transcript	ENST00000337801.9	protein_coding	2/4	617/1063	569/888	190/295	chr2	TogoVar
AQP12A_chr2_240686866_240703483	240694474	G G	A A	missense_variant missense_variant	MODERATE	HG03516.hp1 HG03516.hp1	a0015 a0015	a0015c0020 a0015c0020	a0015c0020t0001 a0015c0020t0001	a0015c0020t0001g0067 a0015c0020t0001g0067	1	171	0.0059	c.613 others(3): Show c.613G>A	p.Ala others(6): Show p.Ala205Thr	AQP12A	ENSG00000184945.15	transcript	ENST00000337801.9	protein_coding	3/4	661/1063	613/888	205/295	chr2	TogoVar
AQP12A_chr2_240686866_240703483	240698199	A A	G G	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(52): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00438.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02602.hp2 HG02735.hp1 HG02738.hp1 HG02896.hp1 HG02897.hp1 HG03239.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp2 NA18967.hp1 NA18974.hp2 NA19057.hp1 NA19057.hp2 NA19070.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA20905.hp2	a0003 a0004 a0005 others(3): Show a0003 a0004 a0005 a0007 a0008 a0017	a0003c0003 a0003c0019 a0004c0006 others(6): Show a0003c0003 a0003c0019 a0004c0006 a0004c0009 a0004c0024 a0005c0004 a0007c0008 a0008c0011 a0017c0025	a0003c0003t0001 a0003c0019t0001 a0004c0006t0001 others(6): Show a0003c0003t0001 a0003c0019t0001 a0004c0006t0001 a0004c0009t0001 a0004c0024t0001 a0005c0004t0002 a0007c0008t0001 a0008c0011t0002 a0017c0025t0002	a0003c0003t0001g0002 a0003c0003t0001g0022 a0003c0003t0001g0063 others(25): Show a0003c0003t0001g0002 a0003c0003t0001g0022 a0003c0003t0001g0063 a0003c0003t0001g0064 a0003c0019t0001g0002 a0004c0006t0001g0009 a0004c0006t0001g0017 a0004c0006t0001g0040 a0004c0006t0001g0047 a0004c0006t0001g0048 a0004c0006t0001g0053 a0004c0009t0001g0019 a0004c0009t0001g0045 a0004c0009t0001g0060 a0004c0009t0001g0068 a0004c0024t0001g0056 a0005c0004t0002g0007 a0005c0004t0002g0015 a0005c0004t0002g0026 a0005c0004t0002g0027 a0005c0004t0002g0033 a0005c0004t0002g0034 a0005c0004t0002g0036 a0005c0004t0002g0039 a0007c0008t0001g0002 a0007c0008t0001g0022 a0008c0011t0002g0013 a0017c0025t0002g0032	55	171	0.3216	c.731 others(3): Show c.731A>G	p.His others(6): Show p.His244Arg	AQP12A	ENSG00000184945.15	transcript	ENST00000337801.9	protein_coding	4/4	779/1063	731/888	244/295	chr2	TogoVar
AQP12B_chr2_240671418_240687885	240676702	T T	C C	missense_variant missense_variant	MODERATE	HG01069.hp2 HG01346.hp2 HG01496.hp2 others(6): Show HG01069.hp2 HG01346.hp2 HG01496.hp2 HG01515.hp2 HG02717.hp1 HG02895.hp2 HG03516.hp1 HG03540.hp1 HG03669.hp2	a0007 a0008 a0009 others(1): Show a0007 a0008 a0009 a0013	a0007c0008 a0008c0007 a0009c0012 others(1): Show a0007c0008 a0008c0007 a0009c0012 a0013c0016	a0007c0008t0001 a0008c0007t0001 a0009c0012t0001 others(1): Show a0007c0008t0001 a0008c0007t0001 a0009c0012t0001 a0013c0016t0001	a0007c0008t0001g0065 a0007c0008t0001g0068 a0007c0008t0001g0071 others(5): Show a0007c0008t0001g0065 a0007c0008t0001g0068 a0007c0008t0001g0071 a0008c0007t0001g0011 a0008c0007t0001g0026 a0009c0012t0001g0046 a0009c0012t0001g0049 a0013c0016t0001g0062	9	179	0.0503	c.767 others(3): Show c.767A>G	p.His others(6): Show p.His256Arg	AQP12B	ENSG00000185176.13	transcript	ENST00000407834.4	protein_coding	3/3	815/1099	767/924	256/307	chr2	TogoVar
AQP12B_chr2_240671418_240687885	240676711	C C	T T	missense_variant missense_variant	MODERATE	HG02895.hp2 HG03540.hp1 HG03669.hp2 HG02895.hp2 HG03540.hp1 HG03669.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0065 a0007c0008t0001g0068 a0007c0008t0001g0071 a0007c0008t0001g0065 a0007c0008t0001g0068 a0007c0008t0001g0071	3	179	0.0168	c.758 others(3): Show c.758G>A	p.Arg others(6): Show p.Arg253His	AQP12B	ENSG00000185176.13	transcript	ENST00000407834.4	protein_coding	3/3	806/1099	758/924	253/307	chr2	TogoVar
AQP12B_chr2_240671418_240687885	240676739	C C	T T	missense_variant missense_variant	MODERATE	HG02071.hp1 NA18986.hp1 HG02071.hp1 NA18986.hp1	a0011 a0011	a0011c0009 a0011c0009	a0011c0009t0001 a0011c0009t0001	a0011c0009t0001g0014 a0011c0009t0001g0014	2	179	0.0112	c.730 others(3): Show c.730G>A	p.Val others(6): Show p.Val244Ile	AQP12B	ENSG00000185176.13	transcript	ENST00000407834.4	protein_coding	3/3	778/1099	730/924	244/307	chr2	TogoVar
AQP12B_chr2_240671418_240687885	240682242	G G	A A	missense_variant missense_variant	MODERATE	HG03669.hp1 HG03669.hp1	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0002 a0012c0018t0002	a0012c0018t0002g0074 a0012c0018t0002g0074	1	179	0.0056	c.596 others(3): Show c.596C>T	p.Thr others(6): Show p.Thr199Met	AQP12B	ENSG00000185176.13	transcript	ENST00000407834.4	protein_coding	1/3	644/1099	596/924	199/307	chr2	TogoVar
AQP12B_chr2_240671418_240687885	240682330	C C	T T	missense_variant missense_variant	MODERATE	HG01496.hp2 HG02717.hp1 HG03516.hp1 others(1): Show HG01496.hp2 HG02717.hp1 HG03516.hp1 HG03669.hp1	a0008 a0012 a0008 a0012	a0008c0007 a0012c0018 a0008c0007 a0012c0018	a0008c0007t0001 a0012c0018t0002 a0008c0007t0001 a0012c0018t0002	a0008c0007t0001g0011 a0008c0007t0001g0026 a0012c0018t0002g0074 a0008c0007t0001g0011 a0008c0007t0001g0026 a0012c0018t0002g0074	4	179	0.0224	c.508 others(3): Show c.508G>A	p.Ala others(6): Show p.Ala170Thr	AQP12B	ENSG00000185176.13	transcript	ENST00000407834.4	protein_coding	1/3	556/1099	508/924	170/307	chr2	TogoVar
AQP12B_chr2_240671418_240687885	240682449	C C	T T	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00597.hp2 HG00738.hp1 others(15): Show HG00140.hp1 HG00597.hp2 HG00738.hp1 HG01106.hp2 HG01257.hp1 HG01258.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG02602.hp1 HG02717.hp2 HG02735.hp1 HG03239.hp1 HG03239.hp2 HG03492.hp2 HG04199.hp2 NA20905.hp1 NA20905.hp2	a0004 a0005 a0004 a0005	a0004c0005 a0005c0004 a0004c0005 a0005c0004	a0004c0005t0001 a0005c0004t0001 a0004c0005t0001 a0005c0004t0001	a0004c0005t0001g0007 a0004c0005t0001g0024 a0005c0004t0001g0006 others(2): Show a0004c0005t0001g0007 a0004c0005t0001g0024 a0005c0004t0001g0006 a0005c0004t0001g0057 a0005c0004t0001g0058	18	179	0.1006	c.389 others(3): Show c.389G>A	p.Arg others(6): Show p.Arg130His	AQP12B	ENSG00000185176.13	transcript	ENST00000407834.4	protein_coding	1/3	437/1099	389/924	130/307	chr2	TogoVar
AQP12B_chr2_240671418_240687885	240682452	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp2 HG00323.hp2 others(32): Show HG00099.hp2 HG00140.hp2 HG00323.hp2 HG00639.hp2 HG01069.hp1 HG01081.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02622.hp2 HG02698.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02976.hp2 HG03490.hp1 HG03540.hp1 HG03669.hp2 HG03704.hp1 HG06807.hp2 NA18966.hp1	a0003 a0007 a0013 a0003 a0007 a0013	a0003c0003 a0007c0008 a0013c0016 a0003c0003 a0007c0008 a0013c0016	a0003c0003t0001 a0003c0003t0003 a0007c0008t0001 others(1): Show a0003c0003t0001 a0003c0003t0003 a0007c0008t0001 a0013c0016t0001	a0003c0003t0001g0004 a0003c0003t0001g0009 a0003c0003t0001g0022 others(14): Show a0003c0003t0001g0004 a0003c0003t0001g0009 a0003c0003t0001g0022 a0003c0003t0001g0023 a0003c0003t0001g0060 a0003c0003t0001g0061 a0003c0003t0001g0063 a0003c0003t0001g0064 a0003c0003t0001g0066 a0003c0003t0001g0069 a0003c0003t0001g0070 a0003c0003t0001g0072 a0003c0003t0003g0067 a0007c0008t0001g0065 a0007c0008t0001g0068 a0007c0008t0001g0071 a0013c0016t0001g0062	35	179	0.1955	c.386 others(3): Show c.386C>T	p.Thr others(6): Show p.Thr129Met	AQP12B	ENSG00000185176.13	transcript	ENST00000407834.4	protein_coding	1/3	434/1099	386/924	129/307	chr2	TogoVar
AQP12B_chr2_240671418_240687885	240682491	G G	A A	missense_variant missense_variant	MODERATE	HG00323.hp1 HG00323.hp1	a0016 a0016	a0016c0014 a0016c0014	a0016c0014t0001 a0016c0014t0001	a0016c0014t0001g0042 a0016c0014t0001g0042	1	179	0.0056	c.347 others(3): Show c.347C>T	p.Ala others(6): Show p.Ala116Val	AQP12B	ENSG00000185176.13	transcript	ENST00000407834.4	protein_coding	1/3	395/1099	347/924	116/307	chr2	TogoVar
AQP12B_chr2_240671418_240687885	240682585	C C	A A	missense_variant missense_variant	MODERATE	HG03669.hp1 HG03669.hp1	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0002 a0012c0018t0002	a0012c0018t0002g0074 a0012c0018t0002g0074	1	179	0.0056	c.253 others(3): Show c.253G>T	p.Val others(5): Show p.Val85Phe	AQP12B	ENSG00000185176.13	transcript	ENST00000407834.4	protein_coding	1/3	301/1099	253/924	85/307	chr2	TogoVar
AQP12B_chr2_240671418_240687885	240682591	G G	A A	missense_variant missense_variant	MODERATE	HG03516.hp2 HG03516.hp2	a0015 a0015	a0015c0017 a0015c0017	a0015c0017t0001 a0015c0017t0001	a0015c0017t0001g0073 a0015c0017t0001g0073	1	179	0.0056	c.247 others(3): Show c.247C>T	p.His others(5): Show p.His83Tyr	AQP12B	ENSG00000185176.13	transcript	ENST00000407834.4	protein_coding	1/3	295/1099	247/924	83/307	chr2	TogoVar
AQP12B_chr2_240671418_240687885	240682617	G G	C C	missense_variant missense_variant	MODERATE	HG00597.hp2 HG00738.hp1 HG01515.hp1 others(6): Show HG00597.hp2 HG00738.hp1 HG01515.hp1 HG01517.hp1 HG02602.hp1 HG02735.hp1 HG03239.hp1 HG03492.hp2 NA20905.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0007 a0004c0005t0001g0024 a0004c0005t0001g0007 a0004c0005t0001g0024	9	179	0.0503	c.221 others(3): Show c.221C>G	p.Thr others(5): Show p.Thr74Ser	AQP12B	ENSG00000185176.13	transcript	ENST00000407834.4	protein_coding	1/3	269/1099	221/924	74/307	chr2	TogoVar
AQP12B_chr2_240671418_240687885	240682663	C C	T T	missense_variant missense_variant	MODERATE	HG02572.hp1 HG02976.hp1 HG02572.hp1 HG02976.hp1	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0001 a0010c0011t0001	a0010c0011t0001g0019 a0010c0011t0001g0019	2	179	0.0112	c.175 others(3): Show c.175G>A	p.Glu others(5): Show p.Glu59Lys	AQP12B	ENSG00000185176.13	transcript	ENST00000407834.4	protein_coding	1/3	223/1099	175/924	59/307	chr2	TogoVar
AQP12B_chr2_240671418_240687885	240682686	A A	C C	missense_variant missense_variant	MODERATE	HG03669.hp1 HG03669.hp1	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0002 a0012c0018t0002	a0012c0018t0002g0074 a0012c0018t0002g0074	1	179	0.0056	c.152 others(3): Show c.152T>G	p.Phe others(5): Show p.Phe51Cys	AQP12B	ENSG00000185176.13	transcript	ENST00000407834.4	protein_coding	1/3	200/1099	152/924	51/307	chr2	TogoVar
AQP12B_chr2_240671418_240687885	240682770	C C	T T	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00408.hp1 HG00438.hp2 others(48): Show HG00099.hp1 HG00408.hp1 HG00438.hp2 HG00597.hp1 HG00738.hp2 HG01069.hp2 HG01081.hp1 HG01256.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp2 HG02148.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02572.hp1 HG02738.hp2 HG02976.hp1 HG03490.hp2 HG03492.hp1 HG03704.hp2 HG03834.hp1 HG04115.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18942.hp1 NA18949.hp1 NA18949.hp2 NA18952.hp2 NA18957.hp2 NA18986.hp2 NA18999.hp1 NA19004.hp1 NA19010.hp1 NA19064.hp1 NA19065.hp2 NA19070.hp2 NA19082.hp2 NA19086.hp2	a0002 a0009 a0010 a0002 a0009 a0010	a0002c0002 a0002c0013 a0009c0012 others(1): Show a0002c0002 a0002c0013 a0009c0012 a0010c0011	a0002c0002t0001 a0002c0013t0001 a0009c0012t0001 others(1): Show a0002c0002t0001 a0002c0013t0001 a0009c0012t0001 a0010c0011t0001	a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0008 others(18): Show a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0008 a0002c0002t0001g0010 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0013t0001g0055 a0002c0013t0001g0056 a0009c0012t0001g0046 a0009c0012t0001g0049 a0010c0011t0001g0019	51	179	0.2849	c.68G others(2): Show c.68G>A	p.Arg others(5): Show p.Arg23Gln	AQP12B	ENSG00000185176.13	transcript	ENST00000407834.4	protein_coding	1/3	116/1099	68/924	23/307	chr2	TogoVar
AQP12B_chr2_240671418_240687885	240682792	T T	C C	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(108): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp2 HG02148.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02976.hp1 HG02976.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG04115.hp2 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18942.hp1 NA18949.hp1 NA18949.hp2 NA18952.hp2 NA18957.hp2 NA18966.hp1 NA18974.hp2 NA18986.hp2 NA18999.hp1 NA19004.hp1 NA19010.hp1 NA19059.hp2 NA19064.hp1 NA19065.hp2 NA19070.hp2 NA19082.hp2 NA19086.hp2 NA20905.hp1 NA20905.hp2	a0002 a0003 a0004 others(9): Show a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0012 a0013 a0014 a0015	a0002c0002 a0002c0013 a0003c0003 others(10): Show a0002c0002 a0002c0013 a0003c0003 a0004c0005 a0005c0004 a0006c0006 a0007c0008 a0009c0012 a0010c0011 a0012c0018 a0013c0016 a0014c0015 a0015c0017	a0002c0002t0001 a0002c0013t0001 a0003c0003t0001 others(11): Show a0002c0002t0001 a0002c0013t0001 a0003c0003t0001 a0003c0003t0003 a0004c0005t0001 a0005c0004t0001 a0006c0006t0002 a0007c0008t0001 a0009c0012t0001 a0010c0011t0001 a0012c0018t0002 a0013c0016t0001 a0014c0015t0001 a0015c0017t0001	a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0008 others(46): Show a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0008 a0002c0002t0001g0010 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0013t0001g0055 a0002c0013t0001g0056 a0003c0003t0001g0004 a0003c0003t0001g0009 a0003c0003t0001g0022 a0003c0003t0001g0023 a0003c0003t0001g0060 a0003c0003t0001g0061 a0003c0003t0001g0063 a0003c0003t0001g0064 a0003c0003t0001g0066 a0003c0003t0001g0069 a0003c0003t0001g0070 a0003c0003t0001g0072 a0003c0003t0003g0067 a0004c0005t0001g0007 a0004c0005t0001g0024 a0005c0004t0001g0006 a0005c0004t0001g0057 a0005c0004t0001g0058 a0006c0006t0002g0025 a0006c0006t0002g0075 a0006c0006t0002g0076 a0007c0008t0001g0065 a0007c0008t0001g0068 a0007c0008t0001g0071 a0009c0012t0001g0046 a0009c0012t0001g0049 a0010c0011t0001g0019 a0012c0018t0002g0074 a0013c0016t0001g0062 a0014c0015t0001g0059 a0015c0017t0001g0073	111	179	0.6201	c.46A others(2): Show c.46A>G	p.Thr others(5): Show p.Thr16Ala	AQP12B	ENSG00000185176.13	transcript	ENST00000407834.4	protein_coding	1/3	94/1099	46/924	16/307	chr2	TogoVar
AQP1_chr7_30906853_30930516	30912228	G G	A A	missense_variant missense_variant	MODERATE	HG03017.hp1 HG03017.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0059 a0004c0005t0001g0059	1	432	0.0023	c.319 others(3): Show c.319G>A	p.Val others(6): Show p.Val107Ile	AQP1	ENSG00000240583.14	transcript	ENST00000311813.11	protein_coding	1/4	376/2754	319/810	107/269	chr7	TogoVar
AQP1_chr7_30906853_30930516	30912286	G G	A A	missense_variant missense_variant	MODERATE	HG01978.hp1 HG01978.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0031 a0005c0006t0001g0031	1	432	0.0023	c.377 others(3): Show c.377G>A	p.Arg others(6): Show p.Arg126His	AQP1	ENSG00000240583.14	transcript	ENST00000311813.11	protein_coding	1/4	434/2754	377/810	126/269	chr7	TogoVar
AQP1_chr7_30906853_30930516	30922078	G G	A A	missense_variant missense_variant	MODERATE	HG02155.hp1 NA18943.hp2 HG02155.hp1 NA18943.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0047 a0003c0004t0003g0047	2	432	0.0046	c.397 others(3): Show c.397G>A	p.Val others(6): Show p.Val133Met	AQP1	ENSG00000240583.14	transcript	ENST00000311813.11	protein_coding	2/4	454/2754	397/810	133/269	chr7	TogoVar
AQP1_chr7_30906853_30930516	30922175	G G	A A	missense_variant missense_variant	MODERATE	HG00642.hp2 HG00733.hp1 HG01081.hp1 others(6): Show HG00642.hp2 HG00733.hp1 HG01081.hp1 HG01192.hp1 HG01975.hp1 HG01981.hp2 HG02735.hp1 HG03239.hp1 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0039 others(4): Show a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0039 a0002c0002t0001g0067 a0002c0002t0001g0089 a0002c0002t0001g0130 a0002c0002t0001g0164	9	432	0.0208	c.494 others(3): Show c.494G>A	p.Gly others(6): Show p.Gly165Asp	AQP1	ENSG00000240583.14	transcript	ENST00000311813.11	protein_coding	2/4	551/2754	494/810	165/269	chr7	TogoVar
AQP1_chr7_30906853_30930516	30922184	C C	T T	missense_variant missense_variant	MODERATE	NA18979.hp2 NA18979.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0002 a0007c0008t0001g0002	1	432	0.0023	c.503 others(3): Show c.503C>T	p.Ala others(6): Show p.Ala168Val	AQP1	ENSG00000240583.14	transcript	ENST00000311813.11	protein_coding	2/4	560/2754	503/810	168/269	chr7	TogoVar
AQP1_chr7_30906853_30930516	30922613	C C	T T	missense_variant missense_variant	MODERATE	HG02647.hp2 HG02647.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0002 a0006c0007t0002	a0006c0007t0002g0170 a0006c0007t0002g0170	1	432	0.0023	c.599 others(3): Show c.599C>T	p.Ala others(6): Show p.Ala200Val	AQP1	ENSG00000240583.14	transcript	ENST00000311813.11	protein_coding	3/4	656/2754	599/810	200/269	chr7	TogoVar
AQP2_chr12_49945737_49963878	49950862	G G	A A	missense_variant missense_variant	MODERATE	NA18957.hp2 NA19088.hp2 NA18957.hp2 NA19088.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0002 a0002c0006t0001g0002	2	442	0.0045	c.32G others(2): Show c.32G>A	p.Arg others(5): Show p.Arg11Lys	AQP2	ENSG00000167580.8	transcript	ENST00000199280.4	protein_coding	1/4	126/4180	32/816	11/271	chr12	TogoVar
AQP3_chr9_33436160_33452593	33442328	A A	C C	missense_variant missense_variant	MODERATE	NA19083.hp2 NA19083.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0075 a0002c0005t0003g0075	1	462	0.0022	c.683 others(3): Show c.683T>G	p.Leu others(6): Show p.Leu228Arg	AQP3	ENSG00000165272.16	transcript	ENST00000297991.6	protein_coding	5/6	746/1825	683/879	228/292	chr9	TogoVar
AQP4_chr18_26847043_26870707	26861165	A A	G G	missense_variant missense_variant	MODERATE	HG02922.hp2 HG02970.hp2 HG02922.hp2 HG02970.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0013 a0003c0006t0013	a0003c0006t0013g0036 a0003c0006t0013g0036	2	438	0.0046	c.578 others(3): Show c.578T>C	p.Ile others(6): Show p.Ile193Thr	AQP4	ENSG00000171885.18	transcript	ENST00000383168.9	protein_coding	3/5	596/5158	578/972	193/323	chr18	TogoVar
AQP4_chr18_26847043_26870707	26861191	A A	T T	missense_variant missense_variant	MODERATE	HG02895.hp2 HG03195.hp2 HG03540.hp1 others(1): Show HG02895.hp2 HG03195.hp2 HG03540.hp1 NA18906.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0034 a0002c0005t0005g0058 a0002c0005t0005g0034 a0002c0005t0005g0058	4	438	0.0091	c.552 others(3): Show c.552T>A	p.Asp others(6): Show p.Asp184Glu	AQP4	ENSG00000171885.18	transcript	ENST00000383168.9	protein_coding	3/5	570/5158	552/972	184/323	chr18	TogoVar
AQP4_chr18_26847043_26870707	26861199	G G	A A	missense_variant missense_variant	MODERATE	HG02809.hp1 HG02809.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0006 a0004c0010t0006	a0004c0010t0006g0153 a0004c0010t0006g0153	1	438	0.0023	c.544 others(3): Show c.544C>T	p.Arg others(6): Show p.Arg182Trp	AQP4	ENSG00000171885.18	transcript	ENST00000383168.9	protein_coding	3/5	562/5158	544/972	182/323	chr18	TogoVar
AQP4_chr18_26847043_26870707	26862246	A A	G G	missense_variant missense_variant	MODERATE	HG03225.hp2 HG03225.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0005 a0005c0007t0005	a0005c0007t0005g0159 a0005c0007t0005g0159	1	438	0.0023	c.383 others(3): Show c.383T>C	p.Ile others(6): Show p.Ile128Thr	AQP4	ENSG00000171885.18	transcript	ENST00000383168.9	protein_coding	2/5	401/5158	383/972	128/323	chr18	TogoVar
AQP5_chr12_49956872_49970682	49962141	A A	C C	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02896.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0116 a0007c0009t0001g0116	1	466	0.0022	c.124 others(3): Show c.124A>C	p.Ile others(5): Show p.Ile42Leu	AQP5	ENSG00000161798.7	transcript	ENST00000293599.7	protein_coding	1/4	270/1449	124/798	42/265	chr12	TogoVar
AQP5_chr12_49956872_49970682	49962142	T T	G G	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02896.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0116 a0007c0009t0001g0116	1	466	0.0022	c.125 others(3): Show c.125T>G	p.Ile others(5): Show p.Ile42Ser	AQP5	ENSG00000161798.7	transcript	ENST00000293599.7	protein_coding	1/4	271/1449	125/798	42/265	chr12	TogoVar
AQP5_chr12_49956872_49970682	49962145	T T	A A	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02896.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0116 a0007c0009t0001g0116	1	466	0.0022	c.128 others(3): Show c.128T>A	p.Leu others(5): Show p.Leu43Gln	AQP5	ENSG00000161798.7	transcript	ENST00000293599.7	protein_coding	1/4	274/1449	128/798	43/265	chr12	TogoVar
AQP5_chr12_49956872_49970682	49962147	C C	A A	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02896.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0116 a0007c0009t0001g0116	1	466	0.0022	c.130 others(3): Show c.130C>A	p.Gln others(5): Show p.Gln44Lys	AQP5	ENSG00000161798.7	transcript	ENST00000293599.7	protein_coding	1/4	276/1449	130/798	44/265	chr12	TogoVar
AQP5_chr12_49956872_49970682	49962151	T T	C C	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02896.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0116 a0007c0009t0001g0116	1	466	0.0022	c.134 others(3): Show c.134T>C	p.Ile others(5): Show p.Ile45Thr	AQP5	ENSG00000161798.7	transcript	ENST00000293599.7	protein_coding	1/4	280/1449	134/798	45/265	chr12	TogoVar
AQP5_chr12_49956872_49970682	49962152	C C	G G	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02896.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0116 a0007c0009t0001g0116	1	466	0.0022	c.135 others(3): Show c.135C>G	p.Ile others(5): Show p.Ile45Met	AQP5	ENSG00000161798.7	transcript	ENST00000293599.7	protein_coding	1/4	281/1449	135/798	45/265	chr12	TogoVar
AQP5_chr12_49956872_49970682	49962153	G G	C C	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02896.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0116 a0007c0009t0001g0116	1	466	0.0022	c.136 others(3): Show c.136G>C	p.Ala others(5): Show p.Ala46Pro	AQP5	ENSG00000161798.7	transcript	ENST00000293599.7	protein_coding	1/4	282/1449	136/798	46/265	chr12	TogoVar
AQP5_chr12_49956872_49970682	49962177	G G	A A	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02896.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0116 a0007c0009t0001g0116	1	466	0.0022	c.160 others(3): Show c.160G>A	p.Gly others(5): Show p.Gly54Ser	AQP5	ENSG00000161798.7	transcript	ENST00000293599.7	protein_coding	1/4	306/1449	160/798	54/265	chr12	TogoVar
AQP5_chr12_49956872_49970682	49962190	A A	G G	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02896.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0116 a0007c0009t0001g0116	1	466	0.0022	c.173 others(3): Show c.173A>G	p.Gln others(5): Show p.Gln58Arg	AQP5	ENSG00000161798.7	transcript	ENST00000293599.7	protein_coding	1/4	319/1449	173/798	58/265	chr12	TogoVar
AQP5_chr12_49956872_49970682	49962192	G G	A A	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02896.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0116 a0007c0009t0001g0116	1	466	0.0022	c.175 others(3): Show c.175G>A	p.Ala others(5): Show p.Ala59Thr	AQP5	ENSG00000161798.7	transcript	ENST00000293599.7	protein_coding	1/4	321/1449	175/798	59/265	chr12	TogoVar
AQP5_chr12_49956872_49970682	49962204	G G	T T	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02896.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0116 a0007c0009t0001g0116	1	466	0.0022	c.187 others(3): Show c.187G>T	p.Val others(5): Show p.Val63Leu	AQP5	ENSG00000161798.7	transcript	ENST00000293599.7	protein_coding	1/4	333/1449	187/798	63/265	chr12	TogoVar
AQP5_chr12_49956872_49970682	49962211	G G	C C	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02896.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0116 a0007c0009t0001g0116	1	466	0.0022	c.194 others(3): Show c.194G>C	p.Gly others(5): Show p.Gly65Ala	AQP5	ENSG00000161798.7	transcript	ENST00000293599.7	protein_coding	1/4	340/1449	194/798	65/265	chr12	TogoVar
AQP5_chr12_49956872_49970682	49962220	T T	G G	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02896.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0116 a0007c0009t0001g0116	1	466	0.0022	c.203 others(3): Show c.203T>G	p.Ile others(5): Show p.Ile68Ser	AQP5	ENSG00000161798.7	transcript	ENST00000293599.7	protein_coding	1/4	349/1449	203/798	68/265	chr12	TogoVar

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