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
APOL6_chr22_35643446_35673404	35659117	G G	A A	missense_variant missense_variant	MODERATE	HG02056.hp2 HG02056.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0037 a0004c0005t0037	a0004c0005t0037g0120 a0004c0005t0037g0120	1	386	0.0026	c.553 others(3): Show c.553G>A	p.Val others(6): Show p.Val185Ile	APOL6	ENSG00000221963.6	transcript	ENST00000409652.5	protein_coding	3/3	778/10065	553/1032	185/343	chr22	TogoVar
APOLD1_chr12_12780659_12796466	12786958	G G	A A	missense_variant missense_variant	MODERATE	HG01070.hp2 HG01243.hp2 HG01358.hp2 others(15): Show HG01070.hp2 HG01243.hp2 HG01358.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02040.hp2 HG02074.hp2 HG04204.hp2 NA18949.hp2 NA18950.hp1 NA18960.hp2 NA18969.hp1 NA18990.hp1 NA19057.hp2 NA19074.hp2 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0019 a0002c0002t0037 others(1): Show a0002c0002t0005 a0002c0002t0019 a0002c0002t0037 a0002c0002t0038	a0002c0002t0005g0002 a0002c0002t0019g0002 a0002c0002t0037g0002 others(1): Show a0002c0002t0005g0002 a0002c0002t0019g0002 a0002c0002t0037g0002 a0002c0002t0038g0002	18	428	0.0421	c.53G others(2): Show c.53G>A	p.Arg others(5): Show p.Arg18Gln	APOLD1	ENSG00000178878.13	transcript	ENST00000356591.5	protein_coding	2/2	86/4594	53/747	18/248	chr12	TogoVar
APOLD1_chr12_12780659_12796466	12786969	G G	A A	missense_variant missense_variant	MODERATE	HG04115.hp2 HG04115.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0002 a0003c0006t0002g0002	1	428	0.0023	c.64G others(2): Show c.64G>A	p.Gly others(5): Show p.Gly22Arg	APOLD1	ENSG00000178878.13	transcript	ENST00000356591.5	protein_coding	2/2	97/4594	64/747	22/248	chr12	TogoVar
APOM_chr6_31650894_31663210	31657440	A A	T T	missense_variant missense_variant	MODERATE	NA19090.hp2 NA19090.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0001 a0002c0003t0001g0001	1	419	0.0024	c.404 others(3): Show c.404A>T	p.Asn others(6): Show p.Asn135Ile	APOM	ENSG00000204444.11	transcript	ENST00000375916.4	protein_coding	4/6	477/761	404/567	135/188	chr6	TogoVar
APOOL_chrX_84998877_85098315	85074095	C C	G G	missense_variant missense_variant	MODERATE	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0040 a0002c0002t0040	a0002c0002t0040g0237 a0002c0002t0040g0237	1	256	0.0039	c.584 others(3): Show c.584C>G	p.Pro others(6): Show p.Pro195Arg	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	7/9	620/6480	584/807	195/268	chrX	TogoVar
APOO_chrX_23828353_23912938	23856367	A A	C C	missense_variant missense_variant	MODERATE	HG01109.hp1 HG02280.hp1 HG02886.hp1 others(5): Show HG01109.hp1 HG02280.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG03225.hp1 HG03486.hp1 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0122 a0002c0002t0003g0123 a0002c0002t0003g0124 others(5): Show a0002c0002t0003g0122 a0002c0002t0003g0123 a0002c0002t0003g0124 a0002c0002t0003g0126 a0002c0002t0003g0127 a0002c0002t0003g0128 a0002c0002t0003g0129 a0002c0002t0003g0130	8	269	0.0297	c.496 others(3): Show c.496T>G	p.Leu others(6): Show p.Leu166Val	APOO	ENSG00000184831.14	transcript	ENST00000379226.9	protein_coding	7/9	732/1122	496/597	166/198	chrX	TogoVar
APOO_chrX_23828353_23912938	23868646	G G	A A	missense_variant missense_variant	MODERATE	NA19006.hp1 NA19006.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0217 a0003c0005t0002g0217	1	269	0.0037	c.335 others(3): Show c.335C>T	p.Pro others(6): Show p.Pro112Leu	APOO	ENSG00000184831.14	transcript	ENST00000379226.9	protein_coding	5/9	571/1122	335/597	112/198	chrX	TogoVar
APOO_chrX_23828353_23912938	23878938	C C	T T	missense_variant missense_variant	MODERATE	NA20129.hp1 NA20129.hp1	a0005 a0005	a0005c0003 a0005c0003	a0005c0003t0003 a0005c0003t0003	a0005c0003t0003g0225 a0005c0003t0003g0225	1	269	0.0037	c.214 others(3): Show c.214G>A	p.Glu others(5): Show p.Glu72Lys	APOO	ENSG00000184831.14	transcript	ENST00000379226.9	protein_coding	3/9	450/1122	214/597	72/198	chrX	TogoVar
APPBP2_chr17_60438158_60531242	60447657	C C	T T	missense_variant missense_variant	MODERATE	HG00639.hp2 HG01099.hp1 HG01109.hp1 others(39): Show HG00639.hp2 HG01099.hp1 HG01109.hp1 HG01168.hp2 HG01243.hp1 HG01891.hp1 HG01952.hp1 HG02055.hp2 HG02145.hp2 HG02572.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp2 NA19240.hp1 NA20300.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0003 a0002c0002t0004 a0002c0002t0009 others(13): Show a0002c0002t0003 a0002c0002t0004 a0002c0002t0009 a0002c0002t0014 a0002c0002t0018 a0002c0002t0019 a0002c0002t0020 a0002c0002t0025 a0002c0002t0027 a0002c0003t0007 a0002c0003t0008 a0002c0003t0010 a0002c0003t0013 a0002c0003t0016 a0002c0003t0017 a0002c0003t0039	a0002c0002t0003g0001 a0002c0002t0003g0025 a0002c0002t0003g0026 others(37): Show a0002c0002t0003g0001 a0002c0002t0003g0025 a0002c0002t0003g0026 a0002c0002t0003g0027 a0002c0002t0003g0028 a0002c0002t0003g0029 a0002c0002t0004g0032 a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 a0002c0002t0004g0036 a0002c0002t0004g0037 a0002c0002t0004g0038 a0002c0002t0009g0010 a0002c0002t0009g0012 a0002c0002t0009g0018 a0002c0002t0014g0019 a0002c0002t0014g0020 a0002c0002t0018g0021 a0002c0002t0019g0022 a0002c0002t0020g0017 a0002c0002t0025g0030 a0002c0002t0027g0031 a0002c0003t0007g0007 a0002c0003t0007g0008 a0002c0003t0007g0014 a0002c0003t0007g0015 a0002c0003t0007g0016 a0002c0003t0008g0004 a0002c0003t0008g0005 a0002c0003t0008g0006 a0002c0003t0010g0009 a0002c0003t0010g0011 a0002c0003t0010g0013 a0002c0003t0013g0023 a0002c0003t0013g0024 a0002c0003t0016g0139 a0002c0003t0016g0140 a0002c0003t0017g0003 a0002c0003t0039g0141	42	144	0.2917	c.168 others(4): Show c.1682G>A	p.Ser others(6): Show p.Ser561Asn	APPBP2	ENSG00000062725.10	transcript	ENST00000083182.8	protein_coding	13/13	1993/6492	1682/1758	561/585	chr17	TogoVar
APPL1_chr3_57222729_57278471	57237538	A A	G G	missense_variant missense_variant	MODERATE	HG02630.hp1 HG02630.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0004 a0007c0010t0004	a0007c0010t0004g0189 a0007c0010t0004g0189	1	266	0.0038	c.200 others(3): Show c.200A>G	p.Glu others(5): Show p.Glu67Gly	APPL1	ENSG00000157500.12	transcript	ENST00000288266.8	protein_coding	3/22	355/6069	200/2130	67/709	chr3	TogoVar
APPL1_chr3_57222729_57278471	57242121	G G	A A	missense_variant missense_variant	MODERATE	NA18982.hp2 NA18982.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0197 a0005c0007t0002g0197	1	266	0.0038	c.394 others(3): Show c.394G>A	p.Val others(6): Show p.Val132Ile	APPL1	ENSG00000157500.12	transcript	ENST00000288266.8	protein_coding	6/22	549/6069	394/2130	132/709	chr3	TogoVar
APPL1_chr3_57222729_57278471	57249498	C C	G G	missense_variant missense_variant	MODERATE	HG02109.hp2 HG02809.hp2 HG02886.hp1 others(3): Show HG02109.hp2 HG02809.hp2 HG02886.hp1 HG02922.hp1 HG03471.hp1 NA20129.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0159 a0003c0003t0004g0184 a0003c0003t0004g0186 others(3): Show a0003c0003t0004g0159 a0003c0003t0004g0184 a0003c0003t0004g0186 a0003c0003t0004g0190 a0003c0003t0004g0191 a0003c0003t0004g0193	6	266	0.0226	c.100 others(4): Show c.1002C>G	p.Asp others(6): Show p.Asp334Glu	APPL1	ENSG00000157500.12	transcript	ENST00000288266.8	protein_coding	11/22	1157/6069	1002/2130	334/709	chr3	TogoVar
APPL1_chr3_57222729_57278471	57257260	C C	T T	missense_variant missense_variant	MODERATE	HG02559.hp2 HG02965.hp2 HG02559.hp2 HG02965.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0018 a0004c0005t0001g0018	2	266	0.0075	c.126 others(4): Show c.1262C>T	p.Pro others(6): Show p.Pro421Leu	APPL1	ENSG00000157500.12	transcript	ENST00000288266.8	protein_coding	15/22	1417/6069	1262/2130	421/709	chr3	TogoVar
APPL1_chr3_57222729_57278471	57268430	A A	G G	missense_variant missense_variant	MODERATE	NA19090.hp2 NA19090.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0089 a0006c0008t0001g0089	1	266	0.0038	c.192 others(4): Show c.1926A>G	p.Ile others(6): Show p.Ile642Met	APPL1	ENSG00000157500.12	transcript	ENST00000288266.8	protein_coding	21/22	2081/6069	1926/2130	642/709	chr3	TogoVar
APPL1_chr3_57222729_57278471	57269656	A A	G G	missense_variant missense_variant	MODERATE	HG00280.hp2 HG00738.hp2 HG01099.hp1 others(17): Show HG00280.hp2 HG00738.hp2 HG01099.hp1 HG01192.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG01993.hp1 HG02148.hp1 HG03239.hp2 HG03669.hp2 HG03704.hp1 HG03831.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0004 a0002c0002t0003g0005 a0002c0002t0003g0021 others(10): Show a0002c0002t0003g0004 a0002c0002t0003g0005 a0002c0002t0003g0021 a0002c0002t0003g0056 a0002c0002t0003g0094 a0002c0002t0003g0098 a0002c0002t0003g0101 a0002c0002t0003g0105 a0002c0002t0003g0106 a0002c0002t0003g0108 a0002c0002t0003g0111 a0002c0002t0003g0125 a0002c0002t0003g0161	20	266	0.0752	c.209 others(4): Show c.2099A>G	p.Glu others(6): Show p.Glu700Gly	APPL1	ENSG00000157500.12	transcript	ENST00000288266.8	protein_coding	22/22	2254/6069	2099/2130	700/709	chr3	TogoVar
APPL2_chr12_105168300_105241174	105174376	C C	T T	missense_variant missense_variant	MODERATE	HG02523.hp2 HG02523.hp2	a0009 a0009	a0009c0017 a0009c0017	a0009c0017t0002 a0009c0017t0002	a0009c0017t0002g0034 a0009c0017t0002g0034	1	392	0.0026	c.193 others(4): Show c.1933G>A	p.Asp others(6): Show p.Asp645Asn	APPL2	ENSG00000136044.12	transcript	ENST00000258530.8	protein_coding	21/21	2095/3171	1933/1995	645/664	chr12	TogoVar
APPL2_chr12_105168300_105241174	105188289	T T	C C	missense_variant missense_variant	MODERATE	NA19009.hp2 NA19009.hp2	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0003 a0007c0014t0003	a0007c0014t0003g0206 a0007c0014t0003g0206	1	392	0.0026	c.161 others(4): Show c.1618A>G	p.Thr others(6): Show p.Thr540Ala	APPL2	ENSG00000136044.12	transcript	ENST00000258530.8	protein_coding	17/21	1780/3171	1618/1995	540/664	chr12	TogoVar
APPL2_chr12_105168300_105241174	105188322	T T	C C	missense_variant missense_variant	MODERATE	HG03209.hp1 HG03579.hp2 HG03209.hp1 HG03579.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0011 a0004c0009t0011	a0004c0009t0011g0116 a0004c0009t0011g0117 a0004c0009t0011g0116 a0004c0009t0011g0117	2	392	0.0051	c.158 others(4): Show c.1585A>G	p.Ile others(6): Show p.Ile529Val	APPL2	ENSG00000136044.12	transcript	ENST00000258530.8	protein_coding	17/21	1747/3171	1585/1995	529/664	chr12	TogoVar
APPL2_chr12_105168300_105241174	105190025	C C	G G	missense_variant missense_variant	MODERATE	NA18975.hp2 NA19003.hp1 NA18975.hp2 NA19003.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0345 a0003c0008t0001g0346 a0003c0008t0001g0345 a0003c0008t0001g0346	2	392	0.0051	c.137 others(4): Show c.1372G>C	p.Ala others(6): Show p.Ala458Pro	APPL2	ENSG00000136044.12	transcript	ENST00000258530.8	protein_coding	15/21	1534/3171	1372/1995	458/664	chr12	TogoVar
APPL2_chr12_105168300_105241174	105190040	C C	T T	missense_variant missense_variant	MODERATE	NA18953.hp1 NA18953.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0287 a0008c0013t0001g0287	1	392	0.0026	c.135 others(4): Show c.1357G>A	p.Asp others(6): Show p.Asp453Asn	APPL2	ENSG00000136044.12	transcript	ENST00000258530.8	protein_coding	15/21	1519/3171	1357/1995	453/664	chr12	TogoVar
APPL2_chr12_105168300_105241174	105190099	G G	A A	missense_variant missense_variant	MODERATE	HG00280.hp2 HG00423.hp1 HG00438.hp1 others(89): Show HG00280.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00609.hp1 HG00621.hp2 HG00673.hp2 HG00735.hp2 HG00741.hp2 HG01074.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01884.hp1 HG01952.hp2 HG01975.hp2 HG02004.hp2 HG02015.hp2 HG02056.hp2 HG02074.hp2 HG02083.hp1 HG02148.hp2 HG02258.hp2 HG02293.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02735.hp1 HG02922.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG04184.hp1 HG04228.hp1 NA18612.hp1 NA18747.hp2 NA18940.hp1 NA18941.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp1 NA18955.hp2 NA18963.hp2 NA18967.hp1 NA18968.hp2 NA18973.hp2 NA18975.hp1 NA18980.hp2 NA18986.hp1 NA18991.hp2 NA18999.hp2 NA19000.hp1 NA19006.hp1 NA19010.hp1 NA19012.hp1 NA19055.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp2 NA19064.hp2 NA19065.hp1 NA19074.hp1 NA19076.hp2 NA19079.hp2 NA19085.hp2 NA19088.hp2 NA19091.hp1 NA20129.hp1 NA20805.hp1	a0002 a0004 a0005 others(2): Show a0002 a0004 a0005 a0006 a0009	a0002c0002 a0002c0007 a0002c0016 others(5): Show a0002c0002 a0002c0007 a0002c0016 a0002c0020 a0004c0009 a0005c0019 a0006c0018 a0009c0017	a0002c0002t0002 a0002c0002t0008 a0002c0007t0002 others(6): Show a0002c0002t0002 a0002c0002t0008 a0002c0007t0002 a0002c0016t0008 a0002c0020t0002 a0004c0009t0011 a0005c0019t0002 a0006c0018t0002 a0009c0017t0002	a0002c0002t0002g0003 a0002c0002t0002g0010 a0002c0002t0002g0011 others(82): Show a0002c0002t0002g0003 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0020 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0048 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0087 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0119 a0002c0002t0002g0186 a0002c0002t0002g0207 a0002c0002t0002g0217 a0002c0002t0002g0229 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0008g0056 a0002c0002t0008g0088 a0002c0007t0002g0145 a0002c0007t0002g0146 a0002c0007t0002g0147 a0002c0016t0008g0057 a0002c0020t0002g0092 a0004c0009t0011g0116 a0004c0009t0011g0117 a0005c0019t0002g0091 a0006c0018t0002g0086 a0009c0017t0002g0034	92	392	0.2347	c.129 others(4): Show c.1298C>T	p.Ala others(6): Show p.Ala433Val	APPL2	ENSG00000136044.12	transcript	ENST00000258530.8	protein_coding	15/21	1460/3171	1298/1995	433/664	chr12	TogoVar
APPL2_chr12_105168300_105241174	105203774	A A	T T	missense_variant missense_variant	MODERATE	NA19003.hp2 NA19003.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0282 a0010c0012t0001g0282	1	392	0.0026	c.633 others(3): Show c.633T>A	p.Phe others(6): Show p.Phe211Leu	APPL2	ENSG00000136044.12	transcript	ENST00000258530.8	protein_coding	9/21	795/3171	633/1995	211/664	chr12	TogoVar
APPL2_chr12_105168300_105241174	105207122	G G	A A	missense_variant missense_variant	MODERATE	NA19005.hp2 NA19005.hp2	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0006 a0011c0015t0006	a0011c0015t0006g0101 a0011c0015t0006g0101	1	392	0.0026	c.560 others(3): Show c.560C>T	p.Ala others(6): Show p.Ala187Val	APPL2	ENSG00000136044.12	transcript	ENST00000258530.8	protein_coding	8/21	722/3171	560/1995	187/664	chr12	TogoVar
APPL2_chr12_105168300_105241174	105217101	T T	C C	missense_variant missense_variant	MODERATE	HG03710.hp2 HG03710.hp2	a0006 a0006	a0006c0018 a0006c0018	a0006c0018t0002 a0006c0018t0002	a0006c0018t0002g0086 a0006c0018t0002g0086	1	392	0.0026	c.253 others(3): Show c.253A>G	p.Thr others(5): Show p.Thr85Ala	APPL2	ENSG00000136044.12	transcript	ENST00000258530.8	protein_coding	4/21	415/3171	253/1995	85/664	chr12	TogoVar
APPL2_chr12_105168300_105241174	105229135	T T	C C	missense_variant missense_variant	MODERATE	HG01106.hp1 HG01106.hp1	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0002 a0005c0019t0002	a0005c0019t0002g0091 a0005c0019t0002g0091	1	392	0.0026	c.143 others(3): Show c.143A>G	p.Tyr others(5): Show p.Tyr48Cys	APPL2	ENSG00000136044.12	transcript	ENST00000258530.8	protein_coding	2/21	305/3171	143/1995	48/664	chr12	TogoVar
APRT_chr16_88804339_88816928	88810108	T T	C C	missense_variant missense_variant	MODERATE	HG00639.hp2 HG00639.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0004 a0003c0006t0004	a0003c0006t0004g0064 a0003c0006t0004g0064	1	438	0.0023	c.362 others(3): Show c.362A>G	p.Gln others(6): Show p.Gln121Arg	APRT	ENSG00000198931.11	transcript	ENST00000378364.8	protein_coding	4/5	391/931	362/543	121/180	chr16	TogoVar
APRT_chr16_88804339_88816928	88810124	C C	T T	missense_variant missense_variant	MODERATE	HG02083.hp2 HG02083.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0047 a0004c0005t0001g0047	1	438	0.0023	c.346 others(3): Show c.346G>A	p.Ala others(6): Show p.Ala116Thr	APRT	ENSG00000198931.11	transcript	ENST00000378364.8	protein_coding	4/5	375/931	346/543	116/180	chr16	TogoVar
APRT_chr16_88804339_88816928	88810494	C C	T T	missense_variant missense_variant	MODERATE	NA18961.hp1 NA18961.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0046 a0002c0004t0001g0046	1	438	0.0023	c.250 others(3): Show c.250G>A	p.Val others(5): Show p.Val84Met	APRT	ENSG00000198931.11	transcript	ENST00000378364.8	protein_coding	3/5	279/931	250/543	84/180	chr16	TogoVar
APRT_chr16_88804339_88816928	88811552	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03195.hp1 HG03195.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0004 a0005c0008t0004	a0005c0008t0004g0076 a0005c0008t0004g0076	1	438	0.0023	c.185 others(3): Show c.185C>T	p.Ala others(5): Show p.Ala62Val	APRT	ENSG00000198931.11	transcript	ENST00000378364.8	protein_coding	2/5	214/931	185/543	62/180	chr16	TogoVar
APRT_chr16_88804339_88816928	88811606	C C	A A	missense_variant missense_variant	MODERATE	HG03540.hp1 HG03540.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0074 a0006c0007t0001g0074	1	438	0.0023	c.131 others(3): Show c.131G>T	p.Gly others(5): Show p.Gly44Val	APRT	ENSG00000198931.11	transcript	ENST00000378364.8	protein_coding	2/5	160/931	131/543	44/180	chr16	TogoVar
APTX_chr9_32967616_33006628	32984805	C C	T T	missense_variant missense_variant	MODERATE	HG02818.hp2 HG06807.hp2 NA20300.hp2 HG02818.hp2 HG06807.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0189 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0189	3	388	0.0077	c.596 others(3): Show c.596G>A	p.Arg others(6): Show p.Arg199His	APTX	ENSG00000137074.20	transcript	ENST00000379817.7	protein_coding	6/8	662/1977	596/1029	199/342	chr9	TogoVar
APTX_chr9_32967616_33006628	32987596	G G	T T	missense_variant missense_variant	MODERATE	HG01256.hp1 HG02145.hp2 HG01256.hp1 HG02145.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0239 a0003c0003t0001g0241 a0003c0003t0001g0239 a0003c0003t0001g0241	2	388	0.0052	c.431 others(3): Show c.431C>A	p.Ser others(6): Show p.Ser144Tyr	APTX	ENSG00000137074.20	transcript	ENST00000379817.7	protein_coding	4/8	497/1977	431/1029	144/342	chr9	TogoVar
APTX_chr9_32967616_33006628	32987688	C C	A A	missense_variant missense_variant	MODERATE	NA19000.hp1 NA19000.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0210 a0004c0006t0001g0210	1	388	0.0026	c.339 others(3): Show c.339G>T	p.Arg others(6): Show p.Arg113Ser	APTX	ENSG00000137074.20	transcript	ENST00000379817.7	protein_coding	4/8	405/1977	339/1029	113/342	chr9	TogoVar
AQP10_chr1_154316093_154330325	154321199	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(122): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp2 HG00558.hp1 HG00597.hp1 HG00639.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01175.hp1 HG01192.hp1 HG01257.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02135.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02572.hp2 HG02622.hp1 HG02683.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03471.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18944.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18957.hp1 NA18959.hp1 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18967.hp1 NA18970.hp2 NA18972.hp1 NA18974.hp2 NA18980.hp1 NA18981.hp2 NA18984.hp1 NA18985.hp1 NA18988.hp2 NA18990.hp1 NA18991.hp1 NA18993.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19001.hp1 NA19005.hp1 NA19011.hp1 NA19043.hp1 NA19055.hp2 NA19058.hp1 NA19064.hp1 NA19066.hp2 NA19068.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19089.hp2 NA19091.hp1 NA19240.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp2	a0002 a0004 a0005 a0002 a0004 a0005	a0002c0002 a0002c0004 a0004c0008 others(1): Show a0002c0002 a0002c0004 a0004c0008 a0005c0007	a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 others(3): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0004t0001 a0004c0008t0001 a0005c0007t0001	a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 others(12): Show a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0012 a0002c0002t0001g0015 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0028 a0002c0002t0002g0003 a0002c0002t0006g0027 a0002c0004t0001g0004 a0004c0008t0001g0020 a0005c0007t0001g0003	125	394	0.3173	c.44G others(2): Show c.44G>A	p.Arg others(5): Show p.Arg15Gln	AQP10	ENSG00000143595.13	transcript	ENST00000324978.8	protein_coding	1/6	107/1814	44/906	15/301	chr1	TogoVar
AQP10_chr1_154316093_154330325	154323116	C C	T T	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(130): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp2 HG00558.hp1 HG00597.hp1 HG00639.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01175.hp1 HG01192.hp1 HG01257.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02135.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02572.hp2 HG02622.hp1 HG02683.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18944.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18957.hp1 NA18959.hp1 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18967.hp1 NA18970.hp2 NA18972.hp1 NA18974.hp2 NA18980.hp1 NA18981.hp2 NA18984.hp1 NA18985.hp1 NA18988.hp2 NA18990.hp1 NA18991.hp1 NA18993.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19001.hp1 NA19005.hp1 NA19011.hp1 NA19043.hp1 NA19055.hp2 NA19058.hp1 NA19064.hp1 NA19066.hp2 NA19068.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19089.hp2 NA19091.hp1 NA19240.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp2	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0005	a0002c0002 a0002c0004 a0003c0005 others(2): Show a0002c0002 a0002c0004 a0003c0005 a0004c0008 a0005c0007	a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 others(4): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0004t0001 a0003c0005t0001 a0004c0008t0001 a0005c0007t0001	a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 others(13): Show a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0012 a0002c0002t0001g0015 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0028 a0002c0002t0002g0003 a0002c0002t0006g0027 a0002c0004t0001g0004 a0003c0005t0001g0008 a0004c0008t0001g0020 a0005c0007t0001g0003	133	394	0.3376	c.367 others(3): Show c.367C>T	p.His others(6): Show p.His123Tyr	AQP10	ENSG00000143595.13	transcript	ENST00000324978.8	protein_coding	3/6	430/1814	367/906	123/301	chr1	TogoVar
AQP10_chr1_154316093_154330325	154323304	T T	C C	missense_variant missense_variant	MODERATE	HG02723.hp2 HG02723.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0024 a0006c0009t0001g0024	1	394	0.0025	c.434 others(3): Show c.434T>C	p.Ile others(6): Show p.Ile145Thr	AQP10	ENSG00000143595.13	transcript	ENST00000324978.8	protein_coding	4/6	497/1814	434/906	145/301	chr1	TogoVar
AQP10_chr1_154316093_154330325	154324413	C C	G G	missense_variant missense_variant	MODERATE	HG03017.hp1 HG03017.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0020 a0004c0008t0001g0020	1	394	0.0025	c.839 others(3): Show c.839C>G	p.Ser others(6): Show p.Ser280Cys	AQP10	ENSG00000143595.13	transcript	ENST00000324978.8	protein_coding	6/6	902/1814	839/906	280/301	chr1	TogoVar
AQP10_chr1_154316093_154330325	154324449	C C	A A	missense_variant missense_variant	MODERATE	HG01175.hp1 HG01175.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0003 a0005c0007t0001g0003	1	394	0.0025	c.875 others(3): Show c.875C>A	p.Ala others(6): Show p.Ala292Asp	AQP10	ENSG00000143595.13	transcript	ENST00000324978.8	protein_coding	6/6	938/1814	875/906	292/301	chr1	TogoVar
AQP11_chr11_77584953_77615356	77590012	T T	A A	missense_variant missense_variant	MODERATE	HG03669.hp1 HG03669.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0202 a0005c0007t0001g0202	1	432	0.0023	c.20T others(2): Show c.20T>A	p.Leu others(4): Show p.Leu7His	AQP11	ENSG00000178301.4	transcript	ENST00000313578.4	protein_coding	1/3	60/1835	20/816	7/271	chr11	TogoVar
AQP11_chr11_77584953_77615356	77590076	G G	A A	missense_variant missense_variant	MODERATE	NA18941.hp2 NA18946.hp2 NA18951.hp1 others(5): Show NA18941.hp2 NA18946.hp2 NA18951.hp1 NA18964.hp2 NA18986.hp1 NA18989.hp1 NA19005.hp1 NA19081.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0001 a0003c0003t0001g0033 a0003c0003t0001g0035 others(2): Show a0003c0003t0001g0001 a0003c0003t0001g0033 a0003c0003t0001g0035 a0003c0003t0001g0036 a0003c0003t0001g0110	8	432	0.0185	c.84G others(2): Show c.84G>A	p.Met others(5): Show p.Met28Ile	AQP11	ENSG00000178301.4	transcript	ENST00000313578.4	protein_coding	1/3	124/1835	84/816	28/271	chr11	TogoVar
AQP11_chr11_77584953_77615356	77590296	G G	A A	missense_variant missense_variant	MODERATE	HG00280.hp1 HG00408.hp1 HG00423.hp2 others(71): Show HG00280.hp1 HG00408.hp1 HG00423.hp2 HG00597.hp2 HG00673.hp1 HG00733.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01192.hp1 HG01256.hp2 HG01361.hp2 HG01433.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02027.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02523.hp1 HG02572.hp2 HG02615.hp1 HG02717.hp1 HG02809.hp2 HG02886.hp2 HG03041.hp2 HG03130.hp1 HG03209.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 NA18612.hp1 NA18747.hp2 NA18942.hp2 NA18947.hp1 NA18950.hp2 NA18954.hp1 NA18957.hp1 NA18960.hp1 NA18965.hp2 NA18969.hp2 NA18972.hp1 NA18974.hp1 NA18980.hp1 NA18981.hp2 NA18982.hp2 NA18991.hp1 NA19003.hp2 NA19006.hp2 NA19007.hp2 NA19011.hp1 NA19054.hp1 NA19056.hp1 NA19057.hp2 NA19062.hp2 NA19068.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19086.hp2 NA19087.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0014 others(41): Show a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0249 a0002c0002t0002g0250 a0002c0002t0002g0251 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0258 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0261 a0002c0002t0002g0262 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0002g0265 a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0273	74	432	0.1713	c.304 others(3): Show c.304G>A	p.Gly others(6): Show p.Gly102Ser	AQP11	ENSG00000178301.4	transcript	ENST00000313578.4	protein_coding	1/3	344/1835	304/816	102/271	chr11	TogoVar
AQP11_chr11_77584953_77615356	77590312	T T	C C	missense_variant missense_variant	MODERATE	HG01074.hp2 HG01074.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0002 a0007c0008t0002	a0007c0008t0002g0232 a0007c0008t0002g0232	1	432	0.0023	c.320 others(3): Show c.320T>C	p.Met others(6): Show p.Met107Thr	AQP11	ENSG00000178301.4	transcript	ENST00000313578.4	protein_coding	1/3	360/1835	320/816	107/271	chr11	TogoVar
AQP11_chr11_77584953_77615356	77590426	A A	C C	missense_variant missense_variant	MODERATE	HG00733.hp1 HG01361.hp1 HG00733.hp1 HG01361.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0089 a0004c0006t0001g0090 a0004c0006t0001g0089 a0004c0006t0001g0090	2	432	0.0046	c.434 others(3): Show c.434A>C	p.Gln others(6): Show p.Gln145Pro	AQP11	ENSG00000178301.4	transcript	ENST00000313578.4	protein_coding	1/3	474/1835	434/816	145/271	chr11	TogoVar
AQP11_chr11_77584953_77615356	77590427	G G	T T	missense_variant missense_variant	MODERATE	HG00733.hp1 HG01361.hp1 HG00733.hp1 HG01361.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0089 a0004c0006t0001g0090 a0004c0006t0001g0089 a0004c0006t0001g0090	2	432	0.0046	c.435 others(3): Show c.435G>T	p.Gln others(6): Show p.Gln145His	AQP11	ENSG00000178301.4	transcript	ENST00000313578.4	protein_coding	1/3	475/1835	435/816	145/271	chr11	TogoVar
AQP11_chr11_77584953_77615356	77603614	G G	A A	missense_variant missense_variant	MODERATE	NA19006.hp1 NA19006.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0045 a0006c0009t0001g0045	1	432	0.0023	c.678 others(3): Show c.678G>A	p.Met others(6): Show p.Met226Ile	AQP11	ENSG00000178301.4	transcript	ENST00000313578.4	protein_coding	2/3	718/1835	678/816	226/271	chr11	TogoVar
AQP12A_chr2_240686866_240703483	240691946	C C	G G	missense_variant missense_variant	MODERATE	HG02083.hp1 HG02083.hp1	a0017 a0017	a0017c0025 a0017c0025	a0017c0025t0002 a0017c0025t0002	a0017c0025t0002g0032 a0017c0025t0002g0032	1	171	0.0059	c.33C others(2): Show c.33C>G	p.Phe others(5): Show p.Phe11Leu	AQP12A	ENSG00000184945.15	transcript	ENST00000337801.9	protein_coding	1/4	81/1063	33/888	11/295	chr2	TogoVar
AQP12A_chr2_240686866_240703483	240691959	G G	A A	missense_variant missense_variant	MODERATE	HG01496.hp2 HG01496.hp2	a0016 a0016	a0016c0017 a0016c0017	a0016c0017t0002 a0016c0017t0002	a0016c0017t0002g0025 a0016c0017t0002g0025	1	171	0.0059	c.46G others(2): Show c.46G>A	p.Ala others(5): Show p.Ala16Thr	AQP12A	ENSG00000184945.15	transcript	ENST00000337801.9	protein_coding	1/4	94/1063	46/888	16/295	chr2	TogoVar
AQP12A_chr2_240686866_240703483	240691981	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00408.hp2 HG00438.hp1 others(46): Show HG00099.hp1 HG00408.hp2 HG00438.hp1 HG00597.hp1 HG00738.hp2 HG01069.hp2 HG01081.hp1 HG01168.hp2 HG01256.hp1 HG01433.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 HG03704.hp1 HG03834.hp2 HG04115.hp2 HG06807.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(1): Show a0002 a0005 a0008 a0017	a0002c0002 a0002c0007 a0005c0004 others(2): Show a0002c0002 a0002c0007 a0005c0004 a0008c0011 a0017c0025	a0002c0002t0002 a0002c0007t0002 a0005c0004t0002 others(2): Show a0002c0002t0002 a0002c0007t0002 a0005c0004t0002 a0008c0011t0002 a0017c0025t0002	a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0008 others(18): Show a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0008 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0007t0002g0003 a0002c0007t0002g0014 a0002c0007t0002g0031 a0002c0007t0002g0035 a0002c0007t0002g0037 a0005c0004t0002g0007 a0005c0004t0002g0015 a0005c0004t0002g0026 a0005c0004t0002g0027 a0005c0004t0002g0033 a0005c0004t0002g0034 a0005c0004t0002g0036 a0005c0004t0002g0039 a0008c0011t0002g0013 a0017c0025t0002g0032	49	171	0.2866	c.68G others(2): Show c.68G>A	p.Arg others(5): Show p.Arg23Gln	AQP12A	ENSG00000184945.15	transcript	ENST00000337801.9	protein_coding	1/4	116/1063	68/888	23/295	chr2	TogoVar
AQP12A_chr2_240686866_240703483	240691984	C C	A A	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0002 a0008c0011t0002	a0008c0011t0002g0013 a0008c0011t0002g0013	2	171	0.0117	c.71C others(2): Show c.71C>A	p.Ala others(5): Show p.Ala24Asp	AQP12A	ENSG00000184945.15	transcript	ENST00000337801.9	protein_coding	1/4	119/1063	71/888	24/295	chr2	TogoVar
AQP12A_chr2_240686866_240703483	240691996	T T	G G	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(35): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00639.hp1 HG01069.hp1 HG01081.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02280.hp1 HG02451.hp1 HG02622.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG03490.hp1 HG03540.hp2 HG03669.hp1 HG03704.hp2 NA18950.hp2 NA18966.hp1 NA19062.hp2 NA20129.hp1 NA20129.hp2	a0003 a0006 a0007 others(1): Show a0003 a0006 a0007 a0011	a0003c0003 a0003c0019 a0006c0005 others(3): Show a0003c0003 a0003c0019 a0006c0005 a0006c0013 a0007c0008 a0011c0014	a0003c0003t0001 a0003c0019t0001 a0006c0005t0001 others(3): Show a0003c0003t0001 a0003c0019t0001 a0006c0005t0001 a0006c0013t0001 a0007c0008t0001 a0011c0014t0001	a0003c0003t0001g0002 a0003c0003t0001g0022 a0003c0003t0001g0063 others(11): Show a0003c0003t0001g0002 a0003c0003t0001g0022 a0003c0003t0001g0063 a0003c0003t0001g0064 a0003c0019t0001g0002 a0006c0005t0001g0006 a0006c0005t0001g0012 a0006c0005t0001g0024 a0006c0005t0001g0065 a0006c0013t0001g0006 a0006c0013t0001g0066 a0007c0008t0001g0002 a0007c0008t0001g0022 a0011c0014t0001g0023	38	171	0.2222	c.83T others(2): Show c.83T>G	p.Leu others(5): Show p.Leu28Arg	AQP12A	ENSG00000184945.15	transcript	ENST00000337801.9	protein_coding	1/4	131/1063	83/888	28/295	chr2	TogoVar

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