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
ANO5_chr11_22188085_22288357	22218262	A A	G G	missense_variant missense_variant	MODERATE	HG01256.hp2 HG01256.hp2	a0012 a0012	a0012c0020 a0012c0020	a0012c0020t0001 a0012c0020t0001	a0012c0020t0001g0223 a0012c0020t0001g0223	1	364	0.0028	c.155 others(3): Show c.155A>G	p.Asn others(5): Show p.Asn52Ser	ANO5	ENSG00000171714.13	transcript	ENST00000324559.9	protein_coding	4/22	563/6742	155/2742	52/913	chr11	TogoVar
ANO5_chr11_22188085_22288357	22221175	G G	A A	missense_variant missense_variant	MODERATE	NA19043.hp1 NA19043.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0052 a0008c0012t0052	a0008c0012t0052g0107 a0008c0012t0052g0107	1	364	0.0028	c.259 others(3): Show c.259G>A	p.Val others(5): Show p.Val87Ile	ANO5	ENSG00000171714.13	transcript	ENST00000324559.9	protein_coding	5/22	667/6742	259/2742	87/913	chr11	TogoVar
ANO5_chr11_22188085_22288357	22227542	G G	A A	missense_variant missense_variant	MODERATE	HG01891.hp2 HG02257.hp1 HG02818.hp1 others(1): Show HG01891.hp2 HG02257.hp1 HG02818.hp1 HG03540.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0281 a0006c0007t0001g0282 a0006c0007t0001g0283 others(1): Show a0006c0007t0001g0281 a0006c0007t0001g0282 a0006c0007t0001g0283 a0006c0007t0001g0284	4	364	0.0110	c.604 others(3): Show c.604G>A	p.Glu others(6): Show p.Glu202Lys	ANO5	ENSG00000171714.13	transcript	ENST00000324559.9	protein_coding	7/22	1012/6742	604/2742	202/913	chr11	TogoVar
ANO5_chr11_22188085_22288357	22227554	A A	G G	missense_variant missense_variant	MODERATE	HG02145.hp2 HG02647.hp2 HG02818.hp2 others(1): Show HG02145.hp2 HG02647.hp2 HG02818.hp2 NA19043.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0021 a0004c0009t0051 a0004c0009t0001 a0004c0009t0021 a0004c0009t0051	a0004c0009t0001g0304 a0004c0009t0021g0303 a0004c0009t0021g0316 others(1): Show a0004c0009t0001g0304 a0004c0009t0021g0303 a0004c0009t0021g0316 a0004c0009t0051g0305	4	364	0.0110	c.616 others(3): Show c.616A>G	p.Thr others(6): Show p.Thr206Ala	ANO5	ENSG00000171714.13	transcript	ENST00000324559.9	protein_coding	7/22	1024/6742	616/2742	206/913	chr11	TogoVar
ANO5_chr11_22188085_22288357	22236194	G G	C C	missense_variant missense_variant	MODERATE	NA19043.hp1 NA19043.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0052 a0008c0012t0052	a0008c0012t0052g0107 a0008c0012t0052g0107	1	364	0.0028	c.680 others(3): Show c.680G>C	p.Gly others(6): Show p.Gly227Ala	ANO5	ENSG00000171714.13	transcript	ENST00000324559.9	protein_coding	8/22	1088/6742	680/2742	227/913	chr11	TogoVar
ANO5_chr11_22188085_22288357	22236206	G G	T T	missense_variant missense_variant	MODERATE	HG00738.hp2 HG00738.hp2	a0011 a0011	a0011c0019 a0011c0019	a0011c0019t0002 a0011c0019t0002	a0011c0019t0002g0087 a0011c0019t0002g0087	1	364	0.0028	c.692 others(3): Show c.692G>T	p.Gly others(6): Show p.Gly231Val	ANO5	ENSG00000171714.13	transcript	ENST00000324559.9	protein_coding	8/22	1100/6742	692/2742	231/913	chr11	TogoVar
ANO5_chr11_22188085_22288357	22239606	C C	G G	missense_variant missense_variant	MODERATE	HG02257.hp2 HG02451.hp2 HG02630.hp1 others(3): Show HG02257.hp2 HG02451.hp2 HG02630.hp1 HG02886.hp1 HG02896.hp2 HG03098.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0019 a0003c0005t0020 a0003c0005t0019 a0003c0005t0020	a0003c0005t0019g0021 a0003c0005t0019g0022 a0003c0005t0019g0023 others(3): Show a0003c0005t0019g0021 a0003c0005t0019g0022 a0003c0005t0019g0023 a0003c0005t0020g0018 a0003c0005t0020g0019 a0003c0005t0020g0020	6	364	0.0165	c.800 others(3): Show c.800C>G	p.Thr others(6): Show p.Thr267Ser	ANO5	ENSG00000171714.13	transcript	ENST00000324559.9	protein_coding	9/22	1208/6742	800/2742	267/913	chr11	TogoVar
ANO5_chr11_22188085_22288357	22250324	A A	T T	missense_variant missense_variant	MODERATE	HG00558.hp1 HG00609.hp2 HG00642.hp2 others(78): Show HG00558.hp1 HG00609.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01099.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01517.hp2 HG01891.hp1 HG01978.hp1 HG01981.hp1 HG02004.hp2 HG02015.hp2 HG02056.hp2 HG02083.hp2 HG02155.hp2 HG02258.hp1 HG02300.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02735.hp1 HG02738.hp2 HG03017.hp2 HG03491.hp1 HG03492.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04184.hp2 HG06807.hp2 NA18939.hp1 NA18941.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18954.hp2 NA18968.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18977.hp1 NA18984.hp1 NA18990.hp2 NA18993.hp2 NA18994.hp1 NA18998.hp1 NA19002.hp1 NA19009.hp2 NA19012.hp2 NA19056.hp1 NA19058.hp2 NA19064.hp2 NA19065.hp1 NA19067.hp1 NA19072.hp1 NA19080.hp1 NA19082.hp2 NA19087.hp1 NA19240.hp2 NA20805.hp2 NA20905.hp1	a0002 a0005 a0012 a0002 a0005 a0012	a0002c0003 a0002c0014 a0002c0016 others(2): Show a0002c0003 a0002c0014 a0002c0016 a0005c0008 a0012c0020	a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 others(19): Show a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 a0002c0003t0006 a0002c0003t0007 a0002c0003t0011 a0002c0003t0013 a0002c0003t0015 a0002c0003t0023 a0002c0003t0024 a0002c0003t0033 a0002c0003t0034 a0002c0003t0035 a0002c0003t0036 a0002c0003t0037 a0002c0003t0040 a0002c0003t0047 a0002c0003t0049 a0002c0014t0001 a0002c0016t0001 a0005c0008t0004 a0012c0020t0001	a0002c0003t0001g0009 a0002c0003t0001g0152 a0002c0003t0001g0153 others(76): Show a0002c0003t0001g0009 a0002c0003t0001g0152 a0002c0003t0001g0153 a0002c0003t0001g0173 a0002c0003t0001g0177 a0002c0003t0001g0201 a0002c0003t0001g0202 a0002c0003t0001g0203 a0002c0003t0001g0204 a0002c0003t0001g0205 a0002c0003t0001g0208 a0002c0003t0001g0217 a0002c0003t0001g0218 a0002c0003t0001g0227 a0002c0003t0001g0228 a0002c0003t0001g0229 a0002c0003t0001g0230 a0002c0003t0001g0235 a0002c0003t0001g0237 a0002c0003t0001g0238 a0002c0003t0001g0239 a0002c0003t0001g0240 a0002c0003t0001g0242 a0002c0003t0001g0244 a0002c0003t0001g0245 a0002c0003t0001g0248 a0002c0003t0001g0249 a0002c0003t0001g0252 a0002c0003t0001g0258 a0002c0003t0001g0259 a0002c0003t0001g0260 a0002c0003t0001g0261 a0002c0003t0001g0264 a0002c0003t0001g0266 a0002c0003t0001g0267 a0002c0003t0001g0268 a0002c0003t0001g0288 a0002c0003t0001g0289 a0002c0003t0003g0221 a0002c0003t0003g0231 a0002c0003t0003g0233 a0002c0003t0003g0290 a0002c0003t0004g0211 a0002c0003t0004g0216 a0002c0003t0004g0232 a0002c0003t0004g0253 a0002c0003t0004g0255 a0002c0003t0004g0256 a0002c0003t0004g0262 a0002c0003t0006g0269 a0002c0003t0006g0270 a0002c0003t0006g0271 a0002c0003t0007g0243 a0002c0003t0011g0291 a0002c0003t0011g0292 a0002c0003t0013g0225 a0002c0003t0013g0226 a0002c0003t0013g0251 a0002c0003t0015g0197 a0002c0003t0015g0199 a0002c0003t0015g0200 a0002c0003t0023g0213 a0002c0003t0023g0263 a0002c0003t0024g0209 a0002c0003t0024g0246 a0002c0003t0033g0265 a0002c0003t0034g0222 a0002c0003t0035g0241 a0002c0003t0036g0250 a0002c0003t0037g0257 a0002c0003t0040g0220 a0002c0003t0047g0254 a0002c0003t0049g0234 a0002c0014t0001g0224 a0002c0016t0001g0219 a0005c0008t0004g0006 a0005c0008t0004g0154 a0005c0008t0004g0155 a0012c0020t0001g0223	81	364	0.2225	c.966 others(3): Show c.966A>T	p.Leu others(6): Show p.Leu322Phe	ANO5	ENSG00000171714.13	transcript	ENST00000324559.9	protein_coding	10/22	1374/6742	966/2742	322/913	chr11	TogoVar
ANO5_chr11_22188085_22288357	22259674	G G	T T	missense_variant missense_variant	MODERATE	HG00642.hp2 HG01069.hp2 HG01071.hp2 others(1): Show HG00642.hp2 HG01069.hp2 HG01071.hp2 HG01192.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0004 a0005c0008t0004	a0005c0008t0004g0006 a0005c0008t0004g0154 a0005c0008t0004g0155 a0005c0008t0004g0006 a0005c0008t0004g0154 a0005c0008t0004g0155	4	364	0.0110	c.156 others(4): Show c.1563G>T	p.Leu others(6): Show p.Leu521Phe	ANO5	ENSG00000171714.13	transcript	ENST00000324559.9	protein_coding	15/22	1971/6742	1563/2742	521/913	chr11	TogoVar
ANO5_chr11_22188085_22288357	22262138	G G	A A	missense_variant missense_variant	MODERATE	NA19002.hp2 NA19002.hp2	a0009 a0009	a0009c0017 a0009c0017	a0009c0017t0002 a0009c0017t0002	a0009c0017t0002g0043 a0009c0017t0002g0043	1	364	0.0028	c.164 others(4): Show c.1640G>A	p.Arg others(6): Show p.Arg547Gln	ANO5	ENSG00000171714.13	transcript	ENST00000324559.9	protein_coding	16/22	2048/6742	1640/2742	547/913	chr11	TogoVar
ANO5_chr11_22188085_22288357	22279634	A A	C C	missense_variant missense_variant	MODERATE	NA19030.hp2 NA19030.hp2	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0045 a0010c0013t0045	a0010c0013t0045g0276 a0010c0013t0045g0276	1	364	0.0028	c.261 others(4): Show c.2611A>C	p.Met others(6): Show p.Met871Leu	ANO5	ENSG00000171714.13	transcript	ENST00000324559.9	protein_coding	22/22	3019/6742	2611/2742	871/913	chr11	TogoVar
ANO5_chr11_22188085_22288357	22279669	C C	G G	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0018 a0007c0011t0018	a0007c0011t0018g0346 a0007c0011t0018g0347 a0007c0011t0018g0346 a0007c0011t0018g0347	2	364	0.0055	c.264 others(4): Show c.2646C>G	p.Asn others(6): Show p.Asn882Lys	ANO5	ENSG00000171714.13	transcript	ENST00000324559.9	protein_coding	22/22	3054/6742	2646/2742	882/913	chr11	TogoVar
ANO6_chr12_45211095_45437349	45302037	A A	T T	missense_variant missense_variant	MODERATE	HG02572.hp1 HG02572.hp1	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0005 a0006c0016t0005	a0006c0016t0005g0014 a0006c0016t0005g0014	1	234	0.0043	c.94A others(2): Show c.94A>T	p.Ile others(5): Show p.Ile32Phe	ANO6	ENSG00000177119.17	transcript	ENST00000320560.13	protein_coding	2/20	321/5998	94/2733	32/910	chr12	TogoVar
ANO6_chr12_45211095_45437349	45348064	G G	A A	missense_variant missense_variant	MODERATE	HG01891.hp2 HG02257.hp2 HG02258.hp1 others(8): Show HG01891.hp2 HG02257.hp2 HG02258.hp1 HG02922.hp1 HG03130.hp1 HG03139.hp1 HG03453.hp1 HG03540.hp1 NA18906.hp2 NA19043.hp1 NA21309.hp2	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0005	a0002c0006 a0003c0005 a0004c0004 others(1): Show a0002c0006 a0003c0005 a0004c0004 a0005c0008	a0002c0006t0004 a0003c0005t0010 a0003c0005t0019 others(2): Show a0002c0006t0004 a0003c0005t0010 a0003c0005t0019 a0004c0004t0004 a0005c0008t0014	a0002c0006t0004g0001 a0002c0006t0004g0003 a0002c0006t0004g0004 others(8): Show a0002c0006t0004g0001 a0002c0006t0004g0003 a0002c0006t0004g0004 a0003c0005t0010g0061 a0003c0005t0010g0180 a0003c0005t0019g0018 a0004c0004t0004g0149 a0004c0004t0004g0150 a0004c0004t0004g0151 a0005c0008t0014g0143 a0005c0008t0014g0147	11	234	0.0470	c.382 others(3): Show c.382G>A	p.Ala others(6): Show p.Ala128Thr	ANO6	ENSG00000177119.17	transcript	ENST00000320560.13	protein_coding	5/20	609/5998	382/2733	128/910	chr12	TogoVar
ANO6_chr12_45211095_45437349	45348202	A A	G G	missense_variant missense_variant	MODERATE	HG03471.hp2 HG03471.hp2	a0011 a0011	a0011c0009 a0011c0009	a0011c0009t0005 a0011c0009t0005	a0011c0009t0005g0012 a0011c0009t0005g0012	1	234	0.0043	c.520 others(3): Show c.520A>G	p.Ile others(6): Show p.Ile174Val	ANO6	ENSG00000177119.17	transcript	ENST00000320560.13	protein_coding	5/20	747/5998	520/2733	174/910	chr12	TogoVar
ANO6_chr12_45211095_45437349	45416870	T T	C C	missense_variant missense_variant	MODERATE	HG02922.hp1 HG03130.hp1 NA18906.hp2 HG02922.hp1 HG03130.hp1 NA18906.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0149 a0004c0004t0004g0150 a0004c0004t0004g0151 a0004c0004t0004g0149 a0004c0004t0004g0150 a0004c0004t0004g0151	3	234	0.0128	c.218 others(4): Show c.2183T>C	p.Met others(6): Show p.Met728Thr	ANO6	ENSG00000177119.17	transcript	ENST00000320560.13	protein_coding	17/20	2410/5998	2183/2733	728/910	chr12	TogoVar
ANO6_chr12_45211095_45437349	45421146	G G	A A	missense_variant missense_variant	MODERATE	HG03688.hp2 HG03688.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0083 a0009c0010t0001g0083	1	234	0.0043	c.229 others(4): Show c.2293G>A	p.Gly others(6): Show p.Gly765Arg	ANO6	ENSG00000177119.17	transcript	ENST00000320560.13	protein_coding	18/20	2520/5998	2293/2733	765/910	chr12	TogoVar
ANO6_chr12_45211095_45437349	45421191	C C	A A	missense_variant missense_variant	MODERATE	HG02132.hp2 HG02132.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0091 a0007c0011t0001g0091	1	234	0.0043	c.233 others(4): Show c.2338C>A	p.Leu others(6): Show p.Leu780Ile	ANO6	ENSG00000177119.17	transcript	ENST00000320560.13	protein_coding	18/20	2565/5998	2338/2733	780/910	chr12	TogoVar
ANO6_chr12_45211095_45437349	45429150	G G	A A	missense_variant missense_variant	MODERATE	NA18906.hp1 NA18906.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0105 a0008c0012t0001g0105	1	234	0.0043	c.257 others(4): Show c.2572G>A	p.Asp others(6): Show p.Asp858Asn	ANO6	ENSG00000177119.17	transcript	ENST00000320560.13	protein_coding	20/20	2799/5998	2572/2733	858/910	chr12	TogoVar
ANO6_chr12_45211095_45437349	45429234	A A	G G	missense_variant missense_variant	MODERATE	HG03540.hp1 NA19043.hp1 NA21309.hp2 HG03540.hp1 NA19043.hp1 NA21309.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0010 a0003c0005t0019 a0003c0005t0010 a0003c0005t0019	a0003c0005t0010g0061 a0003c0005t0010g0180 a0003c0005t0019g0018 a0003c0005t0010g0061 a0003c0005t0010g0180 a0003c0005t0019g0018	3	234	0.0128	c.265 others(4): Show c.2656A>G	p.Met others(6): Show p.Met886Val	ANO6	ENSG00000177119.17	transcript	ENST00000320560.13	protein_coding	20/20	2883/5998	2656/2733	886/910	chr12	TogoVar
ANO6_chr12_45211095_45437349	45429252	G G	C C	missense_variant missense_variant	MODERATE	HG01891.hp2 HG02922.hp1 HG03130.hp1 others(3): Show HG01891.hp2 HG02922.hp1 HG03130.hp1 HG03139.hp1 HG03453.hp1 NA18906.hp2	a0002 a0004 a0002 a0004	a0002c0006 a0004c0004 a0002c0006 a0004c0004	a0002c0006t0004 a0004c0004t0004 a0002c0006t0004 a0004c0004t0004	a0002c0006t0004g0001 a0002c0006t0004g0003 a0002c0006t0004g0004 others(3): Show a0002c0006t0004g0001 a0002c0006t0004g0003 a0002c0006t0004g0004 a0004c0004t0004g0149 a0004c0004t0004g0150 a0004c0004t0004g0151	6	234	0.0256	c.267 others(4): Show c.2674G>C	p.Val others(6): Show p.Val892Leu	ANO6	ENSG00000177119.17	transcript	ENST00000320560.13	protein_coding	20/20	2901/5998	2674/2733	892/910	chr12	TogoVar
ANO7_chr2_241183677_241230976	241190100	G G	A A	missense_variant missense_variant	MODERATE	HG00408.hp2 HG00423.hp1 HG00423.hp2 others(88): Show HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00609.hp1 HG00639.hp2 HG00673.hp1 HG00738.hp1 HG01081.hp1 HG01175.hp1 HG01256.hp2 HG01433.hp1 HG01934.hp2 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp2 HG02056.hp1 HG02080.hp1 HG02129.hp2 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02572.hp2 HG02809.hp2 HG03017.hp1 HG03130.hp2 HG03654.hp2 HG04228.hp1 NA18612.hp2 NA18941.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18949.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18959.hp1 NA18960.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18981.hp2 NA18983.hp1 NA18984.hp1 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18999.hp2 NA19000.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19054.hp1 NA19055.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19077.hp1 NA19081.hp1 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1	a0002 a0004 a0010 others(5): Show a0002 a0004 a0010 a0011 a0014 a0017 a0018 a0019	a0002c0002 a0002c0033 a0002c0034 others(10): Show a0002c0002 a0002c0033 a0002c0034 a0004c0005 a0004c0020 a0004c0032 a0010c0009 a0011c0012 a0014c0036 a0014c0037 a0017c0035 a0018c0038 a0019c0031	a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 others(20): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0006 a0002c0002t0011 a0002c0002t0023 a0002c0002t0028 a0002c0002t0032 a0002c0033t0001 a0002c0034t0020 a0004c0005t0004 a0004c0005t0007 a0004c0020t0001 a0004c0020t0005 a0004c0032t0004 a0010c0009t0001 a0011c0012t0001 a0011c0012t0002 a0014c0036t0001 a0014c0037t0001 a0017c0035t0002 a0018c0038t0001 a0019c0031t0001	a0002c0002t0001g0003 a0002c0002t0001g0019 a0002c0002t0001g0303 others(82): Show a0002c0002t0001g0003 a0002c0002t0001g0019 a0002c0002t0001g0303 a0002c0002t0001g0308 a0002c0002t0001g0310 a0002c0002t0001g0311 a0002c0002t0001g0313 a0002c0002t0001g0314 a0002c0002t0001g0315 a0002c0002t0001g0316 a0002c0002t0001g0322 a0002c0002t0001g0323 a0002c0002t0001g0324 a0002c0002t0001g0327 a0002c0002t0001g0328 a0002c0002t0001g0329 a0002c0002t0001g0330 a0002c0002t0001g0331 a0002c0002t0001g0334 a0002c0002t0001g0335 a0002c0002t0001g0338 a0002c0002t0001g0339 a0002c0002t0001g0341 a0002c0002t0001g0342 a0002c0002t0001g0353 a0002c0002t0002g0140 a0002c0002t0005g0305 a0002c0002t0006g0016 a0002c0002t0006g0307 a0002c0002t0006g0337 a0002c0002t0011g0296 a0002c0002t0011g0297 a0002c0002t0023g0304 a0002c0002t0028g0332 a0002c0002t0032g0295 a0002c0033t0001g0333 a0002c0034t0020g0300 a0004c0005t0004g0164 a0004c0005t0004g0178 a0004c0005t0004g0298 a0004c0005t0004g0301 a0004c0005t0004g0302 a0004c0005t0004g0320 a0004c0005t0004g0340 a0004c0005t0007g0008 a0004c0005t0007g0009 a0004c0005t0007g0126 a0004c0005t0007g0128 a0004c0005t0007g0129 a0004c0005t0007g0131 a0004c0005t0007g0132 a0004c0005t0007g0133 a0004c0005t0007g0135 a0004c0005t0007g0137 a0004c0005t0007g0138 a0004c0005t0007g0141 a0004c0005t0007g0344 a0004c0020t0001g0130 a0004c0020t0001g0317 a0004c0020t0001g0318 a0004c0020t0005g0134 a0004c0032t0004g0319 a0010c0009t0001g0014 a0010c0009t0001g0015 a0010c0009t0001g0369 a0010c0009t0001g0370 a0010c0009t0001g0371 a0010c0009t0001g0372 a0010c0009t0001g0373 a0010c0009t0001g0374 a0010c0009t0001g0376 a0011c0012t0001g0127 a0011c0012t0001g0136 a0011c0012t0001g0292 a0011c0012t0001g0321 a0011c0012t0002g0243 a0011c0012t0002g0309 a0011c0012t0002g0312 a0011c0012t0002g0325 a0011c0012t0002g0326 a0014c0036t0001g0336 a0014c0037t0001g0306 a0017c0035t0002g0343 a0018c0038t0001g0180 a0019c0031t0001g0375	91	396	0.2298	c.37G others(2): Show c.37G>A	p.Val others(5): Show p.Val13Ile	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	2/25	134/4560	37/2640	13/879	chr2	TogoVar
ANO7_chr2_241183677_241230976	241190109	G G	A A	missense_variant missense_variant	MODERATE	HG01074.hp2 HG01515.hp2 HG01074.hp2 HG01515.hp2	a0016 a0016	a0016c0026 a0016c0026	a0016c0026t0005 a0016c0026t0005	a0016c0026t0005g0143 a0016c0026t0005g0144 a0016c0026t0005g0143 a0016c0026t0005g0144	2	396	0.0051	c.46G others(2): Show c.46G>A	p.Asp others(5): Show p.Asp16Asn	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	2/25	143/4560	46/2640	16/879	chr2	TogoVar
ANO7_chr2_241183677_241230976	241190138	G G	C C	missense_variant missense_variant	MODERATE	HG02451.hp2 HG02451.hp2	a0034 a0034	a0034c0039 a0034c0039	a0034c0039t0001 a0034c0039t0001	a0034c0039t0001g0258 a0034c0039t0001g0258	1	396	0.0025	c.75G others(2): Show c.75G>C	p.Arg others(5): Show p.Arg25Ser	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	2/25	172/4560	75/2640	25/879	chr2	TogoVar
ANO7_chr2_241183677_241230976	241195842	C C	A A	missense_variant missense_variant	MODERATE	HG02145.hp2 HG02258.hp2 HG02451.hp2 others(1): Show HG02145.hp2 HG02258.hp2 HG02451.hp2 NA18522.hp1	a0031 a0032 a0033 others(1): Show a0031 a0032 a0033 a0034	a0031c0042 a0032c0043 a0033c0070 others(1): Show a0031c0042 a0032c0043 a0033c0070 a0034c0039	a0031c0042t0001 a0032c0043t0001 a0033c0070t0037 others(1): Show a0031c0042t0001 a0032c0043t0001 a0033c0070t0037 a0034c0039t0001	a0031c0042t0001g0026 a0032c0043t0001g0027 a0033c0070t0037g0025 others(1): Show a0031c0042t0001g0026 a0032c0043t0001g0027 a0033c0070t0037g0025 a0034c0039t0001g0258	4	396	0.0101	c.306 others(3): Show c.306C>A	p.Asp others(6): Show p.Asp102Glu	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	4/25	403/4560	306/2640	102/879	chr2	TogoVar
ANO7_chr2_241183677_241230976	241200185	G G	A A	missense_variant missense_variant	MODERATE	HG01515.hp1 HG04204.hp2 HG01515.hp1 HG04204.hp2	a0015 a0015	a0015c0030 a0015c0030	a0015c0030t0005 a0015c0030t0005	a0015c0030t0005g0189 a0015c0030t0005g0203 a0015c0030t0005g0189 a0015c0030t0005g0203	2	396	0.0051	c.514 others(3): Show c.514G>A	p.Glu others(6): Show p.Glu172Lys	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	6/25	611/4560	514/2640	172/879	chr2	TogoVar
ANO7_chr2_241183677_241230976	241201330	T T	A A	missense_variant missense_variant	MODERATE	NA18946.hp2 NA18949.hp1 NA18964.hp1 others(9): Show NA18946.hp2 NA18949.hp1 NA18964.hp1 NA18970.hp1 NA18971.hp2 NA18983.hp1 NA18990.hp1 NA18999.hp2 NA19011.hp1 NA19055.hp1 NA19077.hp1 NA19081.hp1	a0010 a0019 a0010 a0019	a0010c0009 a0019c0031 a0010c0009 a0019c0031	a0010c0009t0001 a0019c0031t0001 a0010c0009t0001 a0019c0031t0001	a0010c0009t0001g0014 a0010c0009t0001g0015 a0010c0009t0001g0369 others(7): Show a0010c0009t0001g0014 a0010c0009t0001g0015 a0010c0009t0001g0369 a0010c0009t0001g0370 a0010c0009t0001g0371 a0010c0009t0001g0372 a0010c0009t0001g0373 a0010c0009t0001g0374 a0010c0009t0001g0376 a0019c0031t0001g0375	12	396	0.0303	c.587 others(3): Show c.587T>A	p.Phe others(6): Show p.Phe196Tyr	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	7/25	684/4560	587/2640	196/879	chr2	TogoVar
ANO7_chr2_241183677_241230976	241202229	C C	G G	missense_variant missense_variant	MODERATE	HG02074.hp2 HG02074.hp2	a0030 a0030	a0030c0069 a0030c0069	a0030c0069t0005 a0030c0069t0005	a0030c0069t0005g0244 a0030c0069t0005g0244	1	396	0.0025	c.648 others(3): Show c.648C>G	p.His others(6): Show p.His216Gln	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	8/25	745/4560	648/2640	216/879	chr2	TogoVar
ANO7_chr2_241183677_241230976	241209349	T T	A A	missense_variant missense_variant	MODERATE	HG00597.hp1 HG00609.hp2 HG00639.hp2 others(33): Show HG00597.hp1 HG00609.hp2 HG00639.hp2 HG00735.hp2 HG00738.hp1 HG01081.hp1 HG01175.hp1 HG01256.hp2 HG01433.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02148.hp2 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 NA18942.hp2 NA18944.hp2 NA18951.hp1 NA18952.hp1 NA18960.hp1 NA18963.hp2 NA18970.hp2 NA18972.hp1 NA18981.hp2 NA18983.hp2 NA18990.hp2 NA19000.hp1 NA19003.hp2 NA19007.hp2 NA19010.hp2 NA19066.hp1 NA19070.hp1 NA19090.hp1 NA19091.hp1	a0004 a0012 a0004 a0012	a0004c0005 a0004c0020 a0004c0032 others(3): Show a0004c0005 a0004c0020 a0004c0032 a0012c0015 a0012c0044 a0012c0053	a0004c0005t0004 a0004c0005t0007 a0004c0020t0001 others(7): Show a0004c0005t0004 a0004c0005t0007 a0004c0020t0001 a0004c0020t0005 a0004c0032t0004 a0012c0015t0004 a0012c0015t0007 a0012c0015t0024 a0012c0044t0001 a0012c0053t0004	a0004c0005t0004g0164 a0004c0005t0004g0178 a0004c0005t0004g0298 others(31): Show a0004c0005t0004g0164 a0004c0005t0004g0178 a0004c0005t0004g0298 a0004c0005t0004g0301 a0004c0005t0004g0302 a0004c0005t0004g0320 a0004c0005t0004g0340 a0004c0005t0007g0008 a0004c0005t0007g0009 a0004c0005t0007g0126 a0004c0005t0007g0128 a0004c0005t0007g0129 a0004c0005t0007g0131 a0004c0005t0007g0132 a0004c0005t0007g0133 a0004c0005t0007g0135 a0004c0005t0007g0137 a0004c0005t0007g0138 a0004c0005t0007g0141 a0004c0005t0007g0344 a0004c0020t0001g0130 a0004c0020t0001g0317 a0004c0020t0001g0318 a0004c0020t0005g0134 a0004c0032t0004g0319 a0012c0015t0004g0185 a0012c0015t0004g0231 a0012c0015t0004g0245 a0012c0015t0004g0247 a0012c0015t0004g0254 a0012c0015t0007g0165 a0012c0015t0024g0354 a0012c0044t0001g0248 a0012c0053t0004g0067	36	396	0.0909	c.114 others(4): Show c.1142T>A	p.Val others(6): Show p.Val381Glu	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	12/25	1239/4560	1142/2640	381/879	chr2	TogoVar
ANO7_chr2_241183677_241230976	241209363	T T	A A	missense_variant missense_variant	MODERATE	HG00642.hp1 HG00642.hp1	a0020 a0020	a0020c0073 a0020c0073	a0020c0073t0013 a0020c0073t0013	a0020c0073t0013g0356 a0020c0073t0013g0356	1	396	0.0025	c.115 others(4): Show c.1156T>A	p.Tyr others(6): Show p.Tyr386Asn	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	12/25	1253/4560	1156/2640	386/879	chr2	TogoVar
ANO7_chr2_241183677_241230976	241209427	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG04228.hp1 HG04228.hp1	a0018 a0018	a0018c0038 a0018c0038	a0018c0038t0001 a0018c0038t0001	a0018c0038t0001g0180 a0018c0038t0001g0180	1	396	0.0025	c.122 others(4): Show c.1220A>G	p.Glu others(6): Show p.Glu407Gly	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	12/25	1317/4560	1220/2640	407/879	chr2	TogoVar
ANO7_chr2_241183677_241230976	241209595	C C	T T	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(34): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00642.hp2 HG00741.hp1 HG01069.hp2 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01515.hp1 HG01928.hp1 HG02004.hp1 HG02055.hp2 HG02145.hp2 HG02257.hp1 HG02280.hp1 HG02486.hp2 HG02809.hp1 HG02818.hp1 HG02976.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03942.hp1 HG04204.hp2 NA18971.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA21309.hp1	a0007 a0008 a0015 others(4): Show a0007 a0008 a0015 a0019 a0028 a0029 a0033	a0007c0011 a0007c0028 a0007c0029 others(10): Show a0007c0011 a0007c0028 a0007c0029 a0007c0066 a0007c0072 a0007c0077 a0008c0007 a0008c0067 a0015c0030 a0019c0031 a0028c0076 a0029c0068 a0033c0070	a0007c0011t0001 a0007c0011t0012 a0007c0028t0001 others(12): Show a0007c0011t0001 a0007c0011t0012 a0007c0028t0001 a0007c0029t0022 a0007c0066t0001 a0007c0072t0001 a0007c0077t0001 a0008c0007t0003 a0008c0007t0018 a0008c0067t0001 a0015c0030t0005 a0019c0031t0001 a0028c0076t0002 a0029c0068t0001 a0033c0070t0037	a0007c0011t0001g0197 a0007c0011t0001g0198 a0007c0011t0001g0201 others(33): Show a0007c0011t0001g0197 a0007c0011t0001g0198 a0007c0011t0001g0201 a0007c0011t0001g0204 a0007c0011t0001g0221 a0007c0011t0001g0222 a0007c0011t0001g0224 a0007c0011t0001g0225 a0007c0011t0001g0228 a0007c0011t0012g0202 a0007c0028t0001g0259 a0007c0028t0001g0362 a0007c0029t0022g0063 a0007c0029t0022g0065 a0007c0066t0001g0022 a0007c0072t0001g0209 a0007c0077t0001g0223 a0008c0007t0003g0012 a0008c0007t0003g0193 a0008c0007t0003g0194 a0008c0007t0003g0211 a0008c0007t0003g0212 a0008c0007t0003g0213 a0008c0007t0003g0214 a0008c0007t0003g0215 a0008c0007t0003g0216 a0008c0007t0003g0218 a0008c0007t0018g0191 a0008c0007t0018g0217 a0008c0067t0001g0021 a0015c0030t0005g0189 a0015c0030t0005g0203 a0019c0031t0001g0375 a0028c0076t0002g0195 a0029c0068t0001g0020 a0033c0070t0037g0025	37	396	0.0934	c.131 others(4): Show c.1319C>T	p.Ala others(6): Show p.Ala440Val	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	13/25	1416/4560	1319/2640	440/879	chr2	TogoVar
ANO7_chr2_241183677_241230976	241212180	G G	A A	missense_variant missense_variant	MODERATE	HG02486.hp1 HG02486.hp1	a0021 a0021	a0021c0045 a0021c0045	a0021c0045t0021 a0021c0045t0021	a0021c0045t0021g0363 a0021c0045t0021g0363	1	396	0.0025	c.164 others(4): Show c.1648G>A	p.Val others(6): Show p.Val550Ile	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	16/25	1745/4560	1648/2640	550/879	chr2	TogoVar
ANO7_chr2_241183677_241230976	241212188	T T	G G	missense_variant missense_variant	MODERATE	NA21309.hp2 NA21309.hp2	a0026 a0026	a0026c0054 a0026c0054	a0026c0054t0026 a0026c0054t0026	a0026c0054t0026g0064 a0026c0054t0026g0064	1	396	0.0025	c.165 others(4): Show c.1656T>G	p.Ile others(6): Show p.Ile552Met	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	16/25	1753/4560	1656/2640	552/879	chr2	TogoVar
ANO7_chr2_241183677_241230976	241214809	C C	T T	missense_variant missense_variant	MODERATE	NA18906.hp2 NA18906.hp2	a0025 a0025	a0025c0048 a0025c0048	a0025c0048t0033 a0025c0048t0033	a0025c0048t0033g0018 a0025c0048t0033g0018	1	396	0.0025	c.173 others(4): Show c.1733C>T	p.Ala others(6): Show p.Ala578Val	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	18/25	1830/4560	1733/2640	578/879	chr2	TogoVar
ANO7_chr2_241183677_241230976	241217769	A A	C C	missense_variant missense_variant	MODERATE	HG01884.hp2 HG02109.hp1 HG02257.hp1 others(19): Show HG01884.hp2 HG02109.hp1 HG02257.hp1 HG02257.hp2 HG02451.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02922.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1	a0009 a0013 a0024 others(2): Show a0009 a0013 a0024 a0029 a0032	a0009c0016 a0009c0017 a0009c0060 others(7): Show a0009c0016 a0009c0017 a0009c0060 a0013c0023 a0013c0040 a0013c0047 a0013c0064 a0024c0059 a0029c0068 a0032c0043	a0009c0016t0001 a0009c0016t0008 a0009c0017t0001 others(9): Show a0009c0016t0001 a0009c0016t0008 a0009c0017t0001 a0009c0017t0008 a0009c0060t0001 a0013c0023t0001 a0013c0040t0001 a0013c0047t0001 a0013c0064t0031 a0024c0059t0001 a0029c0068t0001 a0032c0043t0001	a0009c0016t0001g0148 a0009c0016t0001g0260 a0009c0016t0008g0109 others(19): Show a0009c0016t0001g0148 a0009c0016t0001g0260 a0009c0016t0008g0109 a0009c0016t0008g0150 a0009c0016t0008g0358 a0009c0016t0008g0359 a0009c0016t0008g0367 a0009c0017t0001g0094 a0009c0017t0001g0095 a0009c0017t0008g0092 a0009c0017t0008g0093 a0009c0017t0008g0097 a0009c0060t0001g0264 a0013c0023t0001g0266 a0013c0023t0001g0267 a0013c0023t0001g0268 a0013c0040t0001g0096 a0013c0047t0001g0368 a0013c0064t0031g0024 a0024c0059t0001g0099 a0029c0068t0001g0020 a0032c0043t0001g0027	22	396	0.0556	c.205 others(4): Show c.2056A>C	p.Ile others(6): Show p.Ile686Leu	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	20/25	2153/4560	2056/2640	686/879	chr2	TogoVar
ANO7_chr2_241183677_241230976	241217773	G G	A A	missense_variant missense_variant	MODERATE	HG01934.hp1 HG01934.hp1	a0022 a0022	a0022c0055 a0022c0055	a0022c0055t0003 a0022c0055t0003	a0022c0055t0003g0037 a0022c0055t0003g0037	1	396	0.0025	c.206 others(4): Show c.2060G>A	p.Arg others(6): Show p.Arg687His	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	20/25	2157/4560	2060/2640	687/879	chr2	TogoVar
ANO7_chr2_241183677_241230976	241217826	G G	A A	missense_variant missense_variant	MODERATE	HG00544.hp1 HG00639.hp1 HG01106.hp1 others(44): Show HG00544.hp1 HG00639.hp1 HG01106.hp1 HG01192.hp2 HG01358.hp2 HG01516.hp1 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG02071.hp2 HG02109.hp2 HG02293.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG03139.hp2 HG03654.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp2 NA18612.hp2 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18952.hp2 NA18971.hp1 NA18974.hp2 NA18981.hp1 NA18994.hp1 NA18999.hp1 NA19000.hp2 NA19010.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp2 NA19068.hp1 NA19070.hp2 NA19081.hp2 NA19085.hp1 NA19091.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0003 a0011 a0017 others(1): Show a0003 a0011 a0017 a0028	a0003c0004 a0003c0013 a0003c0049 others(4): Show a0003c0004 a0003c0013 a0003c0049 a0003c0056 a0011c0012 a0017c0035 a0028c0076	a0003c0004t0001 a0003c0004t0002 a0003c0004t0010 others(10): Show a0003c0004t0001 a0003c0004t0002 a0003c0004t0010 a0003c0004t0029 a0003c0013t0002 a0003c0013t0005 a0003c0013t0010 a0003c0049t0010 a0003c0056t0002 a0011c0012t0001 a0011c0012t0002 a0017c0035t0002 a0028c0076t0002	a0003c0004t0001g0239 a0003c0004t0001g0283 a0003c0004t0001g0288 others(42): Show a0003c0004t0001g0239 a0003c0004t0001g0283 a0003c0004t0001g0288 a0003c0004t0002g0002 a0003c0004t0002g0087 a0003c0004t0002g0237 a0003c0004t0002g0269 a0003c0004t0002g0272 a0003c0004t0002g0274 a0003c0004t0002g0275 a0003c0004t0002g0276 a0003c0004t0002g0282 a0003c0004t0002g0285 a0003c0004t0002g0286 a0003c0004t0002g0287 a0003c0004t0002g0289 a0003c0004t0002g0291 a0003c0004t0010g0076 a0003c0004t0010g0079 a0003c0004t0010g0100 a0003c0004t0010g0103 a0003c0004t0010g0104 a0003c0004t0029g0290 a0003c0013t0002g0039 a0003c0013t0002g0042 a0003c0013t0002g0051 a0003c0013t0002g0053 a0003c0013t0002g0066 a0003c0013t0002g0114 a0003c0013t0002g0226 a0003c0013t0005g0052 a0003c0013t0010g0117 a0003c0049t0010g0270 a0003c0056t0002g0035 a0011c0012t0001g0127 a0011c0012t0001g0136 a0011c0012t0001g0292 a0011c0012t0001g0321 a0011c0012t0002g0243 a0011c0012t0002g0309 a0011c0012t0002g0312 a0011c0012t0002g0325 a0011c0012t0002g0326 a0017c0035t0002g0343 a0028c0076t0002g0195	47	396	0.1187	c.211 others(4): Show c.2113G>A	p.Ala others(6): Show p.Ala705Thr	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	20/25	2210/4560	2113/2640	705/879	chr2	TogoVar
ANO7_chr2_241183677_241230976	241223202	G G	A A	missense_variant missense_variant	MODERATE	HG04115.hp1 HG04115.hp1	a0023 a0023	a0023c0074 a0023c0074	a0023c0074t0001 a0023c0074t0001	a0023c0074t0001g0192 a0023c0074t0001g0192	1	396	0.0025	c.233 others(4): Show c.2338G>A	p.Asp others(6): Show p.Asp780Asn	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	22/25	2435/4560	2338/2640	780/879	chr2	TogoVar
ANO7_chr2_241183677_241230976	241223944	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp1 HG00642.hp2 others(40): Show HG00099.hp2 HG00140.hp1 HG00642.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01433.hp2 HG01884.hp1 HG01934.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02572.hp1 HG02647.hp1 HG02809.hp1 HG02970.hp1 HG03017.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03579.hp1 NA18522.hp2 NA19240.hp2 NA20300.hp1 NA20805.hp1	a0005 a0008 a0014 others(3): Show a0005 a0008 a0014 a0022 a0024 a0034	a0005c0010 a0005c0019 a0005c0025 others(11): Show a0005c0010 a0005c0019 a0005c0025 a0005c0027 a0005c0061 a0005c0063 a0005c0078 a0008c0007 a0008c0067 a0014c0036 a0014c0037 a0022c0055 a0024c0059 a0034c0039	a0005c0010t0001 a0005c0010t0003 a0005c0010t0008 others(18): Show a0005c0010t0001 a0005c0010t0003 a0005c0010t0008 a0005c0019t0003 a0005c0019t0008 a0005c0019t0035 a0005c0025t0001 a0005c0025t0003 a0005c0027t0001 a0005c0027t0003 a0005c0061t0003 a0005c0063t0008 a0005c0078t0001 a0008c0007t0003 a0008c0007t0018 a0008c0067t0001 a0014c0036t0001 a0014c0037t0001 a0022c0055t0003 a0024c0059t0001 a0034c0039t0001	a0005c0010t0001g0061 a0005c0010t0003g0038 a0005c0010t0003g0041 others(39): Show a0005c0010t0001g0061 a0005c0010t0003g0038 a0005c0010t0003g0041 a0005c0010t0003g0045 a0005c0010t0003g0047 a0005c0010t0003g0055 a0005c0010t0003g0059 a0005c0010t0003g0060 a0005c0010t0003g0118 a0005c0010t0003g0227 a0005c0010t0008g0293 a0005c0019t0003g0084 a0005c0019t0003g0233 a0005c0019t0008g0154 a0005c0019t0008g0159 a0005c0019t0035g0351 a0005c0025t0001g0219 a0005c0025t0001g0220 a0005c0025t0003g0210 a0005c0027t0001g0230 a0005c0027t0003g0153 a0005c0061t0003g0357 a0005c0063t0008g0263 a0005c0078t0001g0062 a0008c0007t0003g0012 a0008c0007t0003g0193 a0008c0007t0003g0194 a0008c0007t0003g0211 a0008c0007t0003g0212 a0008c0007t0003g0213 a0008c0007t0003g0214 a0008c0007t0003g0215 a0008c0007t0003g0216 a0008c0007t0003g0218 a0008c0007t0018g0191 a0008c0007t0018g0217 a0008c0067t0001g0021 a0014c0036t0001g0336 a0014c0037t0001g0306 a0022c0055t0003g0037 a0024c0059t0001g0099 a0034c0039t0001g0258	43	396	0.1086	c.257 others(4): Show c.2572G>A	p.Glu others(6): Show p.Glu858Lys	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	24/25	2669/4560	2572/2640	858/879	chr2	TogoVar
ANO8_chr19_17318223_17339855	17323791	G G	C C	missense_variant missense_variant	MODERATE	NA19080.hp1 NA19080.hp1	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0001 a0007c0015t0001	a0007c0015t0001g0062 a0007c0015t0001g0062	1	364	0.0028	c.342 others(4): Show c.3425C>G	p.Pro others(7): Show p.Pro1142Arg	ANO8	ENSG00000074855.11	transcript	ENST00000159087.7	protein_coding	18/18	3610/4178	3425/3699	1142/1232	chr19	TogoVar
ANO8_chr19_17318223_17339855	17324866	C C	T T	missense_variant missense_variant	MODERATE	NA19004.hp2 NA19004.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0002 a0006c0011t0002	a0006c0011t0002g0087 a0006c0011t0002g0087	1	364	0.0028	c.318 others(4): Show c.3182G>A	p.Arg others(7): Show p.Arg1061Gln	ANO8	ENSG00000074855.11	transcript	ENST00000159087.7	protein_coding	17/18	3367/4178	3182/3699	1061/1232	chr19	TogoVar
ANO8_chr19_17318223_17339855	17325289	C C	T T	missense_variant missense_variant	MODERATE	HG04199.hp2 HG04199.hp2	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0001 a0005c0014t0001	a0005c0014t0001g0116 a0005c0014t0001g0116	1	364	0.0028	c.275 others(4): Show c.2759G>A	p.Arg others(6): Show p.Arg920Gln	ANO8	ENSG00000074855.11	transcript	ENST00000159087.7	protein_coding	17/18	2944/4178	2759/3699	920/1232	chr19	TogoVar
ANO8_chr19_17318223_17339855	17328511	C C	T T	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp2 HG00738.hp2 others(7): Show HG00099.hp2 HG00140.hp2 HG00738.hp2 HG01123.hp2 HG02451.hp2 HG03453.hp1 HG03579.hp1 HG06807.hp2 NA20752.hp1 NA20805.hp2	a0002 a0002	a0002c0005 a0002c0017 a0002c0005 a0002c0017	a0002c0005t0005 a0002c0005t0008 a0002c0005t0010 others(2): Show a0002c0005t0005 a0002c0005t0008 a0002c0005t0010 a0002c0005t0016 a0002c0017t0010	a0002c0005t0005g0137 a0002c0005t0005g0138 a0002c0005t0008g0019 others(4): Show a0002c0005t0005g0137 a0002c0005t0005g0138 a0002c0005t0008g0019 a0002c0005t0008g0136 a0002c0005t0010g0140 a0002c0005t0016g0139 a0002c0017t0010g0145	10	364	0.0275	c.187 others(4): Show c.1877G>A	p.Arg others(6): Show p.Arg626Gln	ANO8	ENSG00000074855.11	transcript	ENST00000159087.7	protein_coding	13/18	2062/4178	1877/3699	626/1232	chr19	TogoVar
ANO8_chr19_17318223_17339855	17328569	G G	A A	missense_variant missense_variant	MODERATE	HG02486.hp2 HG02970.hp1 NA19240.hp2 HG02486.hp2 HG02970.hp1 NA19240.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0013 a0003c0006t0015 a0003c0006t0013 a0003c0006t0015	a0003c0006t0013g0052 a0003c0006t0013g0054 a0003c0006t0015g0053 a0003c0006t0013g0052 a0003c0006t0013g0054 a0003c0006t0015g0053	3	364	0.0082	c.181 others(4): Show c.1819C>T	p.Leu others(6): Show p.Leu607Phe	ANO8	ENSG00000074855.11	transcript	ENST00000159087.7	protein_coding	13/18	2004/4178	1819/3699	607/1232	chr19	TogoVar
ANO8_chr19_17318223_17339855	17329792	C C	G G	missense_variant missense_variant	MODERATE	NA18977.hp2 NA18977.hp2	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0006 a0008c0016t0006	a0008c0016t0006g0109 a0008c0016t0006g0109	1	364	0.0028	c.136 others(4): Show c.1369G>C	p.Gly others(6): Show p.Gly457Arg	ANO8	ENSG00000074855.11	transcript	ENST00000159087.7	protein_coding	12/18	1554/4178	1369/3699	457/1232	chr19	TogoVar
ANO8_chr19_17318223_17339855	17329793	G G	C C	missense_variant missense_variant	MODERATE	NA18977.hp2 NA18977.hp2	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0006 a0008c0016t0006	a0008c0016t0006g0109 a0008c0016t0006g0109	1	364	0.0028	c.136 others(4): Show c.1368C>G	p.Ile others(6): Show p.Ile456Met	ANO8	ENSG00000074855.11	transcript	ENST00000159087.7	protein_coding	12/18	1553/4178	1368/3699	456/1232	chr19	TogoVar
ANO8_chr19_17318223_17339855	17331342	C C	G G	missense_variant missense_variant	MODERATE	NA18997.hp1 NA18997.hp1	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0001 a0009c0018t0001	a0009c0018t0001g0108 a0009c0018t0001g0108	1	364	0.0028	c.656 others(3): Show c.656G>C	p.Arg others(6): Show p.Arg219Pro	ANO8	ENSG00000074855.11	transcript	ENST00000159087.7	protein_coding	6/18	841/4178	656/3699	219/1232	chr19	TogoVar
ANO8_chr19_17318223_17339855	17331343	G G	C C	missense_variant missense_variant	MODERATE	NA18997.hp1 NA18997.hp1	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0001 a0009c0018t0001	a0009c0018t0001g0108 a0009c0018t0001g0108	1	364	0.0028	c.655 others(3): Show c.655C>G	p.Arg others(6): Show p.Arg219Gly	ANO8	ENSG00000074855.11	transcript	ENST00000159087.7	protein_coding	6/18	840/4178	655/3699	219/1232	chr19	TogoVar
ANO8_chr19_17318223_17339855	17331345	T T	G G	missense_variant missense_variant	MODERATE	NA18997.hp1 NA18997.hp1	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0001 a0009c0018t0001	a0009c0018t0001g0108 a0009c0018t0001g0108	1	364	0.0028	c.653 others(3): Show c.653A>C	p.Asn others(6): Show p.Asn218Thr	ANO8	ENSG00000074855.11	transcript	ENST00000159087.7	protein_coding	6/18	838/4178	653/3699	218/1232	chr19	TogoVar

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