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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
ANKRD42_chr11_83188712_83253971	83227743	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01074.hp1 HG01099.hp2 HG01109.hp2 others(4): Show HG01074.hp1 HG01099.hp2 HG01109.hp2 HG01192.hp2 HG02572.hp1 HG03540.hp2 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0016 a0002c0003t0018 a0002c0003t0026 others(1): Show a0002c0003t0016 a0002c0003t0018 a0002c0003t0026 a0002c0003t0045	a0002c0003t0016g0272 a0002c0003t0016g0273 a0002c0003t0018g0275 others(4): Show a0002c0003t0016g0272 a0002c0003t0016g0273 a0002c0003t0018g0275 a0002c0003t0018g0277 a0002c0003t0018g0278 a0002c0003t0026g0294 a0002c0003t0045g0276	7	350	0.0200	0	c.788 others(5): Show c.788-4A>G		ANKRD42	ENSG00000137494.14	transcript	ENST00000533342.6	protein_coding	6/10					chr11	TogoVar
ANKRD42_chr11_83188712_83253971	83227748	T T	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01074.hp1 HG01099.hp2 HG01109.hp2 others(5): Show HG01074.hp1 HG01099.hp2 HG01109.hp2 HG01192.hp2 HG02451.hp1 HG02572.hp1 HG03540.hp2 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0016 a0002c0003t0018 a0002c0003t0026 others(1): Show a0002c0003t0016 a0002c0003t0018 a0002c0003t0026 a0002c0003t0045	a0002c0003t0016g0271 a0002c0003t0016g0272 a0002c0003t0016g0273 others(5): Show a0002c0003t0016g0271 a0002c0003t0016g0272 a0002c0003t0016g0273 a0002c0003t0018g0275 a0002c0003t0018g0277 a0002c0003t0018g0278 a0002c0003t0026g0294 a0002c0003t0045g0276	8	350	0.0229	0	c.789 others(3): Show c.789T>G	p.Thr others(6): Show p.Thr263Thr	ANKRD42	ENSG00000137494.14	transcript	ENST00000533342.6	protein_coding	7/11	1748/3310	789/1584	263/527		chr11	TogoVar
ANKRD44_chr2_196981662_197315780	197001746	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00621.hp1 HG00621.hp2 HG00639.hp1 others(57): Show HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01109.hp2 HG01255.hp1 HG01255.hp2 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp1 HG01975.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02155.hp1 HG02451.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02895.hp1 HG02976.hp2 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03492.hp2 HG03704.hp1 HG04115.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18953.hp2 NA18994.hp2 NA19082.hp1 NA19082.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0009 a0001c0002t0013 a0001c0004t0002 a0001c0004t0005	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(57): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0003g0017 a0001c0001t0003g0041 a0001c0001t0003g0048 a0001c0001t0003g0100 a0001c0001t0005g0047 a0001c0001t0008g0029 a0001c0001t0008g0105 a0001c0001t0009g0019 a0001c0001t0016g0065 a0001c0001t0017g0034 a0001c0001t0018g0054 a0001c0002t0001g0026 a0001c0002t0001g0080 a0001c0002t0001g0094 a0001c0002t0001g0096 a0001c0002t0001g0103 a0001c0002t0001g0114 a0001c0002t0002g0022 a0001c0002t0002g0052 a0001c0002t0002g0083 a0001c0002t0002g0106 a0001c0002t0003g0032 a0001c0002t0003g0059 a0001c0002t0003g0062 a0001c0002t0003g0067 a0001c0002t0003g0068 a0001c0002t0003g0069 a0001c0002t0003g0072 a0001c0002t0003g0093 a0001c0002t0003g0102 a0001c0002t0009g0111 a0001c0002t0013g0028 a0001c0004t0002g0016 a0001c0004t0005g0020 a0001c0004t0005g0021 a0001c0004t0005g0036	60	114	0.5263	0	c.243 others(6): Show c.2435+7A>T		ANKRD44	ENSG00000065413.20	transcript	ENST00000282272.15	protein_coding	22/27					chr2	TogoVar
ANKRD44_chr2_196981662_197315780	197005914	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp1 HG02109.hp2 HG02145.hp1 others(2): Show HG01109.hp1 HG02109.hp2 HG02145.hp1 HG02486.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006	a0001c0002t0002g0061 a0001c0002t0004g0090 a0001c0002t0006g0042 others(2): Show a0001c0002t0002g0061 a0001c0002t0004g0090 a0001c0002t0006g0042 a0001c0002t0006g0071 a0001c0002t0006g0079	5	114	0.0439	0	c.213 others(6): Show c.2131-4T>A		ANKRD44	ENSG00000065413.20	transcript	ENST00000282272.15	protein_coding	20/27					chr2	TogoVar
ANKRD44_chr2_196981662_197315780	197121324	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00621.hp1 HG00621.hp2 HG00639.hp1 others(89): Show HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01109.hp1 HG01109.hp2 HG01255.hp1 HG01255.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp1 HG01975.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18953.hp2 NA18994.hp2 NA19082.hp1 NA19082.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0016 a0001c0001t0017 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0009 a0001c0002t0010 a0001c0002t0013 a0001c0002t0015 a0001c0004t0002 a0001c0004t0005 a0001c0005t0005 a0001c0006t0012 a0001c0007t0005 a0001c0008t0019 a0002c0003t0001 a0002c0003t0002	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(89): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0002g0003 a0001c0001t0002g0088 a0001c0001t0003g0017 a0001c0001t0003g0041 a0001c0001t0003g0048 a0001c0001t0003g0100 a0001c0001t0004g0056 a0001c0001t0005g0047 a0001c0001t0005g0084 a0001c0001t0005g0085 a0001c0001t0008g0029 a0001c0001t0008g0105 a0001c0001t0009g0019 a0001c0001t0010g0092 a0001c0001t0016g0065 a0001c0001t0017g0034 a0001c0002t0001g0026 a0001c0002t0001g0064 a0001c0002t0001g0080 a0001c0002t0001g0094 a0001c0002t0001g0096 a0001c0002t0001g0103 a0001c0002t0001g0114 a0001c0002t0002g0006 a0001c0002t0002g0022 a0001c0002t0002g0052 a0001c0002t0002g0061 a0001c0002t0002g0063 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0083 a0001c0002t0002g0106 a0001c0002t0003g0032 a0001c0002t0003g0059 a0001c0002t0003g0062 a0001c0002t0003g0066 a0001c0002t0003g0067 a0001c0002t0003g0068 a0001c0002t0003g0069 a0001c0002t0003g0072 a0001c0002t0003g0093 a0001c0002t0003g0102 a0001c0002t0004g0090 a0001c0002t0006g0042 a0001c0002t0006g0057 a0001c0002t0006g0071 a0001c0002t0006g0073 a0001c0002t0006g0079 a0001c0002t0009g0111 a0001c0002t0010g0086 a0001c0002t0013g0028 a0001c0002t0015g0060 a0001c0004t0002g0016 a0001c0004t0005g0020 a0001c0004t0005g0021 a0001c0004t0005g0036 a0001c0005t0005g0015 a0001c0005t0005g0031 a0001c0006t0012g0113 a0001c0007t0005g0099 a0001c0008t0019g0053 a0002c0003t0001g0024 a0002c0003t0001g0039 a0002c0003t0001g0046 a0002c0003t0001g0049 a0002c0003t0001g0051 a0002c0003t0002g0009 a0002c0003t0002g0044	92	114	0.8070	0	c.906 others(5): Show c.906+8A>G		ANKRD44	ENSG00000065413.20	transcript	ENST00000282272.15	protein_coding	8/27					chr2	TogoVar
ANKRD44_chr2_196981662_197315780	197310573	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00621.hp1 HG00639.hp1 HG00738.hp1 others(61): Show HG00621.hp1 HG00639.hp1 HG00738.hp1 HG00741.hp1 HG01109.hp1 HG01255.hp1 HG01433.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01975.hp1 HG01975.hp2 HG02015.hp2 HG02055.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG04115.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18953.hp1 NA19082.hp2 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0016 a0001c0001t0018 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0002t0010 a0001c0002t0014 a0001c0002t0015 a0001c0006t0012 a0001c0007t0005 a0001c0008t0019	a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0075 others(61): Show a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0088 a0001c0001t0003g0100 a0001c0001t0004g0056 a0001c0001t0004g0070 a0001c0001t0004g0087 a0001c0001t0004g0089 a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0004g0110 a0001c0001t0005g0084 a0001c0001t0005g0085 a0001c0001t0008g0105 a0001c0001t0010g0092 a0001c0001t0011g0001 a0001c0001t0016g0065 a0001c0001t0018g0054 a0001c0002t0001g0064 a0001c0002t0001g0080 a0001c0002t0001g0094 a0001c0002t0001g0096 a0001c0002t0001g0103 a0001c0002t0001g0114 a0001c0002t0002g0052 a0001c0002t0002g0061 a0001c0002t0002g0063 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0083 a0001c0002t0002g0091 a0001c0002t0002g0106 a0001c0002t0003g0059 a0001c0002t0003g0062 a0001c0002t0003g0066 a0001c0002t0003g0067 a0001c0002t0003g0068 a0001c0002t0003g0069 a0001c0002t0003g0072 a0001c0002t0003g0093 a0001c0002t0003g0102 a0001c0002t0004g0090 a0001c0002t0006g0057 a0001c0002t0006g0071 a0001c0002t0006g0073 a0001c0002t0006g0079 a0001c0002t0007g0104 a0001c0002t0009g0111 a0001c0002t0010g0086 a0001c0002t0014g0074 a0001c0002t0015g0060 a0001c0006t0012g0113 a0001c0007t0005g0099 a0001c0008t0019g0053	64	114	0.5614	0	c.27+ others(4): Show c.27+5C>G		ANKRD44	ENSG00000065413.20	transcript	ENST00000282272.15	protein_coding	1/27					chr2	TogoVar
ANKRD46_chr8_100515772_100564759	100528001	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02886.hp2 HG02886.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0069 a0003c0004t0002g0069	1	400	0.0025	0	c.314 others(3): Show c.314A>G	p.Asn others(6): Show p.Asn105Ser	ANKRD46	ENSG00000186106.11	transcript	ENST00000335659.7	protein_coding	4/5	493/2649	314/687	105/228		chr8	TogoVar
ANKRD46_chr8_100515772_100564759	100528005	T T	TA TA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01261.hp2 HG02015.hp1 HG02738.hp1 others(4): Show HG01261.hp2 HG02015.hp1 HG02738.hp1 HG03927.hp2 NA18978.hp2 NA19000.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0205 others(4): Show a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0205 a0001c0001t0001g0246 a0001c0001t0002g0091 a0001c0001t0003g0263 a0001c0001t0004g0281	7	400	0.0175	1	c.312 others(6): Show c.312-3dupT		ANKRD46	ENSG00000186106.11	transcript	ENST00000335659.7	protein_coding	3/4					chr8	TogoVar
ANKRD46_chr8_100515772_100564759	100528005	TA TA	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00558.hp1 HG00741.hp2 HG01123.hp2 others(21): Show HG00558.hp1 HG00741.hp2 HG01123.hp2 HG01168.hp2 HG01192.hp2 HG01515.hp1 HG01943.hp2 HG02040.hp1 HG02486.hp1 HG02683.hp2 HG02717.hp1 HG02896.hp1 HG02897.hp1 HG02976.hp1 HG03209.hp1 HG03453.hp1 HG03491.hp1 HG03491.hp2 HG03710.hp2 HG03942.hp1 NA19001.hp2 NA19055.hp2 NA19077.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0002t0005	a0001c0001t0001g0050 a0001c0001t0001g0107 a0001c0001t0001g0113 others(18): Show a0001c0001t0001g0050 a0001c0001t0001g0107 a0001c0001t0001g0113 a0001c0001t0001g0150 a0001c0001t0001g0222 a0001c0001t0001g0236 a0001c0001t0001g0251 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0002g0061 a0001c0001t0002g0067 a0001c0001t0002g0073 a0001c0001t0002g0085 a0001c0001t0002g0100 a0001c0001t0010g0051 a0001c0002t0005g0020 a0001c0002t0005g0054 a0001c0002t0005g0055 a0001c0002t0005g0056 a0001c0002t0005g0057	24	400	0.0600	-1	c.312 others(6): Show c.312-3delT		ANKRD46	ENSG00000186106.11	transcript	ENST00000335659.7	protein_coding	3/4					chr8	TogoVar
ANKRD46_chr8_100515772_100564759	100528006	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp1 HG02559.hp2 HG02615.hp1 others(4): Show HG01109.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02922.hp2 HG03453.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0058 others(2): Show a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060	7	400	0.0175	0	c.312 others(5): Show c.312-3T>A		ANKRD46	ENSG00000186106.11	transcript	ENST00000335659.7	protein_coding	3/4					chr8	TogoVar
ANKRD49_chr11_94488984_94504578	94494042	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02258.hp2 HG02451.hp1 HG02717.hp1 others(1): Show HG02258.hp2 HG02451.hp1 HG02717.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0010 a0001c0002t0001g0010	4	456	0.0088	0	c.-91 others(5): Show c.-91+7T>C		ANKRD49	ENSG00000168876.9	transcript	ENST00000544612.6	protein_coding	1/2					chr11	TogoVar
ANKRD50_chr4_124659048_124717732	124678912	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	382	0.0026	0	c.513 others(5): Show c.513-7T>G		ANKRD50	ENSG00000151458.12	transcript	ENST00000504087.6	protein_coding	2/4					chr4	TogoVar
ANKRD52_chr12_56232807_56263384	56254282	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01167.hp1 HG01169.hp1 HG02630.hp2 others(5): Show HG01167.hp1 HG01169.hp1 HG02630.hp2 HG02896.hp2 HG02897.hp1 HG03130.hp1 HG03139.hp2 HG03516.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0006 a0001c0004t0001 a0001c0004t0006	a0001c0004t0001g0031 a0001c0004t0006g0015 a0001c0004t0006g0161 others(2): Show a0001c0004t0001g0031 a0001c0004t0006g0015 a0001c0004t0006g0161 a0001c0004t0006g0162 a0001c0004t0006g0163	8	272	0.0294	0	c.694 others(5): Show c.694-3C>T		ANKRD52	ENSG00000139645.11	transcript	ENST00000267116.8	protein_coding	7/27					chr12	TogoVar
ANKRD53_chr2_70973630_70990499	70979866	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA20805.hp1 NA20805.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0062 a0002c0003t0001g0062	1	450	0.0022	0	c.617 others(5): Show c.617+6T>C		ANKRD53	ENSG00000144031.12	transcript	ENST00000360589.4	protein_coding	3/5					chr2	TogoVar
ANKRD53_chr2_70973630_70990499	70985491	A A	AC AC	splice_region_variant splice_region_variant	LOW	HG00323.hp2 HG00735.hp1 HG00735.hp2 others(127): Show HG00323.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01993.hp2 HG02004.hp1 HG02071.hp1 HG02109.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03491.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18953.hp2 NA18957.hp2 NA18960.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18970.hp1 NA18973.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp2 NA18985.hp1 NA18986.hp2 NA18992.hp2 NA18994.hp2 NA18995.hp1 NA18997.hp2 NA19062.hp2 NA19063.hp2 NA19066.hp2 NA19068.hp1 NA19072.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19087.hp1 NA19088.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0006 a0013 a0023	a0001c0001 a0001c0002 a0001c0006 others(10): Show a0001c0001 a0001c0002 a0001c0006 a0001c0014 a0001c0028 a0002c0003 a0003c0004 a0003c0008 a0003c0015 a0005c0007 a0006c0009 a0013c0021 a0023c0032	a0001c0001t0002 a0001c0002t0002 a0001c0002t0006 others(11): Show a0001c0001t0002 a0001c0002t0002 a0001c0002t0006 a0001c0006t0002 a0001c0014t0002 a0001c0028t0002 a0002c0003t0002 a0003c0004t0002 a0003c0008t0002 a0003c0015t0002 a0005c0007t0002 a0006c0009t0002 a0013c0021t0002 a0023c0032t0002	a0001c0001t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0013 others(27): Show a0001c0001t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0013 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0028 a0001c0002t0002g0046 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0006g0002 a0001c0006t0002g0010 a0001c0006t0002g0035 a0001c0006t0002g0044 a0001c0014t0002g0004 a0001c0014t0002g0021 a0001c0028t0002g0002 a0002c0003t0002g0007 a0003c0004t0002g0004 a0003c0004t0002g0051 a0003c0004t0002g0053 a0003c0008t0002g0012 a0003c0008t0002g0055 a0003c0015t0002g0049 a0005c0007t0002g0009 a0005c0007t0002g0060 a0006c0009t0002g0011 a0006c0009t0002g0040 a0013c0021t0002g0002 a0013c0021t0002g0028 a0023c0032t0002g0047	130	450	0.2889	1	c.19 others(5): Show c.198dupC		ANKRD53	ENSG00000144031.12	transcript	ENST00000360589.4	protein_coding	6/6				INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKRD53_chr2_70973630_70990499	70985497	C C	G G	splice_region_variant splice_region_variant	LOW	HG00423.hp1 HG02155.hp2 NA19011.hp2 others(5): Show HG00423.hp1 HG02155.hp2 NA19011.hp2 NA19057.hp2 NA19063.hp1 NA19068.hp2 NA19081.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0013 a0001c0001t0004g0032 a0001c0001t0004g0001 a0001c0001t0004g0013 a0001c0001t0004g0032	8	450	0.0178	0	c.19 others(4): Show c.197C>G		ANKRD53	ENSG00000144031.12	transcript	ENST00000360589.4	protein_coding	6/6					chr2	TogoVar
ANKRD54_chr22_37825855_37849334	37832637	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0107 a0001c0007t0002g0107	1	384	0.0026	0	c.828 others(3): Show c.828G>A	p.Gln others(6): Show p.Gln276Gln	ANKRD54	ENSG00000100124.15	transcript	ENST00000215941.9	protein_coding	7/8	924/2087	828/903	276/300		chr22	TogoVar
ANKRD55_chr5_56094680_56238330	56159892	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00642.hp2 HG00642.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0192 a0007c0011t0001g0192	1	308	0.0033	0	c.424 others(3): Show c.424C>A	p.Leu others(6): Show p.Leu142Ile	ANKRD55	ENSG00000164512.18	transcript	ENST00000341048.9	protein_coding	6/12	547/2471	424/1845	142/614		chr5	TogoVar
ANKRD60_chr20_58211126_58233653	58221330	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0065 a0002c0002t0001g0065	1	458	0.0022	0	c.727 others(5): Show c.727+8T>G		ANKRD60	ENSG00000124227.6	transcript	ENST00000457363.2	protein_coding	3/3					chr20	TogoVar
ANKRD60_chr20_58211126_58233653	58221338	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02451.hp2 HG02451.hp2	a0014 a0014	a0014c0020 a0014c0020	a0014c0020t0007 a0014c0020t0007	a0014c0020t0007g0149 a0014c0020t0007g0149	1	458	0.0022	0	c.727 others(3): Show c.727G>A	p.Gly others(6): Show p.Gly243Arg	ANKRD60	ENSG00000124227.6	transcript	ENST00000457363.2	protein_coding	3/4	727/3407	727/1038	243/345		chr20	TogoVar
ANKRD62_chr18_12088843_12134764	12103150	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0016 a0002c0003t0016	a0002c0003t0016g0067 a0002c0003t0016g0067	1	392	0.0026	0	c.821 others(5): Show c.821-8G>A		ANKRD62	ENSG00000181626.12	transcript	ENST00000587848.3	protein_coding	6/13					chr18	TogoVar
ANKRD62_chr18_12088843_12134764	12127740	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02630.hp1 HG02970.hp2 HG03098.hp1 others(5): Show HG02630.hp1 HG02970.hp2 HG03098.hp1 HG03195.hp2 HG03471.hp2 HG03540.hp1 NA19030.hp1 NA19240.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0033 a0003c0004t0003g0034 a0003c0004t0003g0070 others(3): Show a0003c0004t0003g0033 a0003c0004t0003g0034 a0003c0004t0003g0070 a0003c0004t0003g0071 a0003c0004t0003g0072 a0003c0004t0003g0099	8	392	0.0204	0	c.256 others(6): Show c.2563-8C>T		ANKRD62	ENSG00000181626.12	transcript	ENST00000587848.3	protein_coding	13/13					chr18	TogoVar
ANKRD65_chr1_1413420_1426276	1421013	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	148	0.0068	0	c.1-8 others(3): Show c.1-8C>T		ANKRD65	ENSG00000235098.9	transcript	ENST00000537107.6	protein_coding	1/3					chr1	TogoVar
ANKRD6_chr6_89428152_89638821	89595917	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01934.hp2 HG01934.hp2	a0018 a0018	a0018c0029 a0018c0029	a0018c0029t0001 a0018c0029t0001	a0018c0029t0001g0147 a0018c0029t0001g0147	1	270	0.0037	0	c.122 others(3): Show c.122A>G	p.His others(5): Show p.His41Arg	ANKRD6	ENSG00000135299.18	transcript	ENST00000339746.9	protein_coding	3/16	489/5368	122/2184	41/727		chr6	TogoVar
ANKRD6_chr6_89428152_89638821	89627583	A A	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02717.hp2 HG03041.hp1 HG03139.hp2 others(2): Show HG02717.hp2 HG03041.hp1 HG03139.hp2 NA19240.hp1 NA20129.hp2	a0007 a0015 a0007 a0015	a0007c0012 a0015c0021 a0007c0012 a0015c0021	a0007c0012t0006 a0015c0021t0006 a0007c0012t0006 a0015c0021t0006	a0007c0012t0006g0105 a0007c0012t0006g0106 a0007c0012t0006g0107 others(2): Show a0007c0012t0006g0105 a0007c0012t0006g0106 a0007c0012t0006g0107 a0007c0012t0006g0108 a0015c0021t0006g0222	5	270	0.0185	0	c.137 others(4): Show c.1372A>C	p.Met others(6): Show p.Met458Leu	ANKRD6	ENSG00000135299.18	transcript	ENST00000339746.9	protein_coding	14/16	1739/5368	1372/2184	458/727		chr6	TogoVar
ANKRD6_chr6_89428152_89638821	89629097	G G	GT GT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00597.hp2 HG00642.hp2 others(41): Show HG00099.hp2 HG00597.hp2 HG00642.hp2 HG00673.hp1 HG00741.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01516.hp2 HG02015.hp1 HG02056.hp2 HG02109.hp1 HG02145.hp2 HG02155.hp1 HG02451.hp2 HG02602.hp1 HG02630.hp2 HG02698.hp2 HG02735.hp2 HG03041.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03471.hp2 HG03834.hp1 HG03927.hp2 HG04184.hp1 NA18906.hp1 NA18970.hp1 NA18986.hp2 NA18995.hp1 NA18997.hp2 NA18999.hp2 NA19000.hp1 NA19009.hp2 NA19030.hp2 NA19063.hp1 NA19083.hp2 NA19085.hp2 NA20300.hp1 NA20752.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0002 a0001c0003 a0002c0026 others(3): Show a0001c0002 a0001c0003 a0002c0026 a0003c0015 a0004c0019 a0006c0009	a0001c0002t0001 a0001c0003t0002 a0001c0003t0009 others(6): Show a0001c0002t0001 a0001c0003t0002 a0001c0003t0009 a0001c0003t0010 a0001c0003t0011 a0002c0026t0002 a0003c0015t0002 a0004c0019t0002 a0006c0009t0002	a0001c0002t0001g0128 a0001c0003t0002g0013 a0001c0003t0002g0014 others(41): Show a0001c0002t0001g0128 a0001c0003t0002g0013 a0001c0003t0002g0014 a0001c0003t0002g0022 a0001c0003t0002g0023 a0001c0003t0002g0024 a0001c0003t0002g0034 a0001c0003t0002g0036 a0001c0003t0002g0037 a0001c0003t0002g0043 a0001c0003t0002g0044 a0001c0003t0002g0051 a0001c0003t0002g0116 a0001c0003t0002g0117 a0001c0003t0002g0118 a0001c0003t0002g0119 a0001c0003t0002g0120 a0001c0003t0002g0151 a0001c0003t0002g0153 a0001c0003t0002g0155 a0001c0003t0002g0156 a0001c0003t0002g0157 a0001c0003t0002g0158 a0001c0003t0002g0159 a0001c0003t0002g0166 a0001c0003t0002g0173 a0001c0003t0002g0178 a0001c0003t0002g0193 a0001c0003t0002g0194 a0001c0003t0002g0228 a0001c0003t0009g0111 a0001c0003t0010g0012 a0001c0003t0011g0033 a0002c0026t0002g0015 a0003c0015t0002g0109 a0003c0015t0002g0191 a0004c0019t0002g0207 a0004c0019t0002g0208 a0006c0009t0002g0011 a0006c0009t0002g0016 a0006c0009t0002g0029 a0006c0009t0002g0030 a0006c0009t0002g0162 a0006c0009t0002g0195	44	270	0.1630	1	c.148 others(7): Show c.1486-4dupT		ANKRD6	ENSG00000135299.18	transcript	ENST00000339746.9	protein_coding	14/15				INFO_REALIGN_3_PRIME	chr6	TogoVar
ANKRD9_chr14_102496767_102514776	102508547	T T	C C	splice_region_variant splice_region_variant	LOW	HG01243.hp1 HG02735.hp2 HG03098.hp2 others(2): Show HG01243.hp1 HG02735.hp2 HG03098.hp2 HG06807.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0015 a0001c0001t0020 a0001c0001t0058 others(1): Show a0001c0001t0015 a0001c0001t0020 a0001c0001t0058 a0001c0003t0015	a0001c0001t0015g0067 a0001c0001t0020g0022 a0001c0001t0058g0068 others(1): Show a0001c0001t0015g0067 a0001c0001t0020g0022 a0001c0001t0058g0068 a0001c0003t0015g0021	5	386	0.0130	0	c.-12 others(4): Show c.-126A>G		ANKRD9	ENSG00000156381.9	transcript	ENST00000286918.9	protein_coding	3/4					chr14	TogoVar
ANKS1A_chr6_34884255_35096406	34985075	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18977.hp1 NA18977.hp2 NA18977.hp1 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0004 a0001c0001t0001 a0001c0004t0004	a0001c0001t0001g0191 a0001c0004t0004g0229 a0001c0001t0001g0191 a0001c0004t0004g0229	2	320	0.0063	0	c.101 others(6): Show c.1013-7C>T		ANKS1A	ENSG00000064999.16	transcript	ENST00000360359.5	protein_coding	7/23					chr6	TogoVar
ANKS1A_chr6_34884255_35096406	35082816	T T	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00733.hp2 HG01192.hp1 HG02630.hp1 HG00733.hp2 HG01192.hp1 HG02630.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0004 a0001c0012t0004	a0001c0012t0004g0216 a0001c0012t0004g0217 a0001c0012t0004g0239 a0001c0012t0004g0216 a0001c0012t0004g0217 a0001c0012t0004g0239	3	320	0.0094	0	c.283 others(4): Show c.2835T>C	p.Asn others(6): Show p.Asn945Asn	ANKS1A	ENSG00000064999.16	transcript	ENST00000360359.5	protein_coding	18/24	2983/6350	2835/3405	945/1134		chr6	TogoVar
ANKS1A_chr6_34884255_35096406	35091404	G G	A A	splice_region_variant splice_region_variant	LOW	NA18950.hp1 NA18962.hp1 NA19000.hp1 others(1): Show NA18950.hp1 NA18962.hp1 NA19000.hp1 NA19011.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0280 a0002c0003t0009g0283 a0002c0003t0009g0287 others(1): Show a0002c0003t0009g0280 a0002c0003t0009g0283 a0002c0003t0009g0287 a0002c0003t0009g0299	4	320	0.0125	0	c.27 others(5): Show c.2795G>A		ANKS1A	ENSG00000064999.16	transcript	ENST00000360359.5	protein_coding	24/24					chr6	TogoVar
ANKS1B_chr12_98738974_99989936	99655061	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01081.hp1 HG01257.hp2 HG02273.hp2 others(5): Show HG01081.hp1 HG01257.hp2 HG02273.hp2 HG02451.hp1 HG03209.hp2 HG03239.hp1 HG03486.hp2 HG04228.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0010 a0001c0001 a0001c0003 a0004c0010	a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 others(5): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0025 a0001c0003t0004 a0001c0003t0006 a0004c0010t0001	a0001c0001t0005g0005 a0001c0001t0007g0021 a0001c0001t0010g0001 others(5): Show a0001c0001t0005g0005 a0001c0001t0007g0021 a0001c0001t0010g0001 a0001c0001t0013g0027 a0001c0001t0025g0046 a0001c0003t0004g0023 a0001c0003t0006g0022 a0004c0010t0001g0025	8	48	0.1667	0	c.127 others(6): Show c.1272+6A>T		ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	9/26					chr12	TogoVar
ANKS3_chr16_4691511_4739271	4729981	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03704.hp2 HG03704.hp2	a0016 a0016	a0016c0026 a0016c0026	a0016c0026t0001 a0016c0026t0001	a0016c0026t0001g0278 a0016c0026t0001g0278	1	374	0.0027	0	c.169 others(3): Show c.169C>T	p.Arg others(5): Show p.Arg57Trp	ANKS3	ENSG00000168096.15	transcript	ENST00000304283.9	protein_coding	3/18	573/2772	169/1971	57/656		chr16	TogoVar
ANKS6_chr9_98727009_98801555	98773878	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02280.hp1 HG02280.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0004 a0009c0013t0004	a0009c0013t0004g0210 a0009c0013t0004g0210	1	348	0.0029	0	c.182 others(4): Show c.1820C>T	p.Thr others(6): Show p.Thr607Ile	ANKS6	ENSG00000165138.18	transcript	ENST00000353234.5	protein_coding	9/15	1884/7190	1820/2616	607/871		chr9	TogoVar
ANKUB1_chr3_149756100_149797554	149780462	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00639.hp2 HG00642.hp2 HG02109.hp2 others(9): Show HG00639.hp2 HG00642.hp2 HG02109.hp2 HG02257.hp1 HG02258.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02809.hp2 HG03486.hp2 HG03579.hp2 NA19030.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0004 a0001c0007 a0002c0005 others(2): Show a0001c0004 a0001c0007 a0002c0005 a0003c0011 a0004c0008	a0001c0004t0001 a0001c0007t0001 a0001c0007t0004 others(3): Show a0001c0004t0001 a0001c0007t0001 a0001c0007t0004 a0002c0005t0001 a0003c0011t0001 a0004c0008t0004	a0001c0004t0001g0244 a0001c0004t0001g0247 a0001c0004t0001g0248 others(7): Show a0001c0004t0001g0244 a0001c0004t0001g0247 a0001c0004t0001g0248 a0001c0007t0001g0032 a0001c0007t0001g0246 a0001c0007t0004g0250 a0002c0005t0001g0033 a0002c0005t0001g0249 a0003c0011t0001g0251 a0004c0008t0004g0245	12	372	0.0323	0	c.235 others(5): Show c.235-7C>T		ANKUB1	ENSG00000206199.11	transcript	ENST00000446160.7	protein_coding	2/5					chr3	TogoVar
ANLN_chr7_36384862_36458791	36420318	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18961.hp1 NA18961.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0002 a0004c0003t0002	a0004c0003t0002g0351 a0004c0003t0002g0351	1	408	0.0025	0	c.201 others(6): Show c.2015+4A>T		ANLN	ENSG00000011426.11	transcript	ENST00000265748.7	protein_coding	11/23					chr7	TogoVar
ANLN_chr7_36384862_36458791	36424682	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0107 a0001c0002t0001g0107	1	408	0.0025	0	c.265 others(6): Show c.2653-4G>A		ANLN	ENSG00000011426.11	transcript	ENST00000265748.7	protein_coding	16/23					chr7	TogoVar
ANLN_chr7_36384862_36458791	36425997	CT CT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00741.hp2 HG01081.hp2 HG01123.hp1 others(7): Show HG00741.hp2 HG01081.hp2 HG01123.hp1 HG01168.hp1 HG01981.hp2 HG02735.hp1 HG02896.hp2 HG03041.hp1 HG03669.hp2 NA19063.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0002c0001 a0005c0006 a0001c0002 a0002c0001 a0005c0006	a0001c0002t0001 a0002c0001t0003 a0005c0006t0004 others(1): Show a0001c0002t0001 a0002c0001t0003 a0005c0006t0004 a0005c0006t0012	a0001c0002t0001g0022 a0001c0002t0001g0139 a0002c0001t0003g0031 others(7): Show a0001c0002t0001g0022 a0001c0002t0001g0139 a0002c0001t0003g0031 a0005c0006t0004g0126 a0005c0006t0004g0127 a0005c0006t0004g0128 a0005c0006t0004g0129 a0005c0006t0004g0130 a0005c0006t0004g0131 a0005c0006t0012g0135	10	408	0.0245	-1	c.274 others(7): Show c.2749-3delT		ANLN	ENSG00000011426.11	transcript	ENST00000265748.7	protein_coding	18/23				INFO_REALIGN_3_PRIME	chr7	TogoVar
ANLN_chr7_36384862_36458791	36449844	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02559.hp2 HG02965.hp1 HG02559.hp2 HG02965.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0002 a0006c0008t0002	a0006c0008t0002g0383 a0006c0008t0002g0384 a0006c0008t0002g0383 a0006c0008t0002g0384	2	408	0.0049	0	c.325 others(6): Show c.3251+7A>G		ANLN	ENSG00000011426.11	transcript	ENST00000265748.7	protein_coding	23/23					chr7	TogoVar
ANLN_chr7_36384862_36458791	36453789	G G	A A	splice_region_variant splice_region_variant	LOW	HG01257.hp1 HG01261.hp1 HG01361.hp1 others(3): Show HG01257.hp1 HG01261.hp1 HG01361.hp1 HG01496.hp1 HG01516.hp2 HG02293.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0342 a0002c0001t0005g0343 a0002c0001t0005g0344 others(3): Show a0002c0001t0005g0342 a0002c0001t0005g0343 a0002c0001t0005g0344 a0002c0001t0005g0345 a0002c0001t0005g0346 a0002c0001t0005g0347	6	408	0.0147	0	c.11 others(5): Show c.1189G>A		ANLN	ENSG00000011426.11	transcript	ENST00000265748.7	protein_coding	24/24					chr7	TogoVar
ANO10_chr3_43360848_43627011	43549856	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02886.hp2 NA18522.hp1 HG02886.hp2 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0202 a0002c0002t0008g0203 a0002c0002t0008g0202 a0002c0002t0008g0203	2	224	0.0089	0	c.166 others(6): Show c.1669-8T>G		ANO10	ENSG00000160746.13	transcript	ENST00000292246.8	protein_coding	10/12					chr3	TogoVar
ANO10_chr3_43360848_43627011	43565732	C C	CA CA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01243.hp2 HG01496.hp2 HG02559.hp1 others(11): Show HG01243.hp2 HG01496.hp2 HG02559.hp1 HG02572.hp2 HG02818.hp1 HG02886.hp2 HG02897.hp1 HG02976.hp2 HG03130.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp2 NA18522.hp1 NA20300.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0011 a0012	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0003c0008 a0011c0011 a0012c0009	a0001c0001t0003 a0002c0002t0001 a0002c0002t0008 others(4): Show a0001c0001t0003 a0002c0002t0001 a0002c0002t0008 a0003c0003t0002 a0003c0008t0001 a0011c0011t0001 a0012c0009t0004	a0001c0001t0003g0005 a0002c0002t0001g0053 a0002c0002t0008g0202 others(11): Show a0001c0001t0003g0005 a0002c0002t0001g0053 a0002c0002t0008g0202 a0002c0002t0008g0203 a0003c0003t0002g0132 a0003c0003t0002g0133 a0003c0003t0002g0134 a0003c0003t0002g0135 a0003c0003t0002g0136 a0003c0003t0002g0198 a0003c0008t0001g0137 a0003c0008t0001g0138 a0011c0011t0001g0080 a0012c0009t0004g0040	14	224	0.0625	1	c.121 others(7): Show c.1219-6dupT		ANO10	ENSG00000160746.13	transcript	ENST00000292246.8	protein_coding	7/12					chr3	TogoVar
ANO10_chr3_43360848_43627011	43565732	C C	CAA CAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01167.hp1 HG01169.hp1 HG01891.hp1 others(10): Show HG01167.hp1 HG01169.hp1 HG01891.hp1 HG02572.hp1 HG02647.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02970.hp1 HG02976.hp1 HG03579.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0008 others(10): Show a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018	13	224	0.0580	2	c.121 others(15): Show c.1219-7_1219-6dupTT		ANO10	ENSG00000160746.13	transcript	ENST00000292246.8	protein_coding	7/12					chr3	TogoVar
ANO10_chr3_43360848_43627011	43565732	CA CA	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp2 HG01257.hp2 HG02622.hp1 others(4): Show HG01109.hp2 HG01257.hp2 HG02622.hp1 HG03041.hp1 HG03453.hp1 HG03516.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0189 a0001c0001t0002g0068 a0001c0001t0002g0070 others(4): Show a0001c0001t0001g0189 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0185 a0002c0002t0001g0059 a0002c0002t0001g0214 a0002c0002t0001g0215	7	224	0.0313	-1	c.121 others(7): Show c.1219-6delT		ANO10	ENSG00000160746.13	transcript	ENST00000292246.8	protein_coding	7/12					chr3	TogoVar
ANO1_chr11_70073317_70194530	70155906	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00280.hp1 HG00735.hp1 others(13): Show HG00140.hp1 HG00280.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01515.hp1 HG01891.hp2 HG02004.hp1 HG03704.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0018 a0001c0001 a0001c0003 a0001c0018	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0018t0001	a0001c0001t0001g0062 a0001c0001t0001g0075 a0001c0001t0001g0076 others(13): Show a0001c0001t0001g0062 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0128 a0001c0001t0001g0139 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0002g0229 a0001c0003t0001g0021 a0001c0003t0001g0271 a0001c0018t0001g0061 a0001c0018t0001g0125	16	302	0.0530	0	c.142 others(6): Show c.1426-5C>T		ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding	14/25					chr11	TogoVar
ANO1_chr11_70073317_70194530	70156939	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02257.hp2 HG02647.hp2 HG02723.hp2 others(1): Show HG02257.hp2 HG02647.hp2 HG02723.hp2 HG03195.hp2	a0001 a0003 a0001 a0003	a0001c0016 a0003c0014 a0001c0016 a0003c0014	a0001c0016t0001 a0003c0014t0001 a0001c0016t0001 a0003c0014t0001	a0001c0016t0001g0163 a0001c0016t0001g0293 a0003c0014t0001g0176 others(1): Show a0001c0016t0001g0163 a0001c0016t0001g0293 a0003c0014t0001g0176 a0003c0014t0001g0180	4	302	0.0133	0	c.150 others(6): Show c.1504-8T>C		ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding	15/25					chr11	TogoVar
ANO1_chr11_70073317_70194530	70156948	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA21309.hp2 NA21309.hp2	a0010 a0010	a0010c0028 a0010c0028	a0010c0028t0001 a0010c0028t0001	a0010c0028t0001g0154 a0010c0028t0001g0154	1	302	0.0033	0	c.150 others(4): Show c.1505C>A	p.Thr others(6): Show p.Thr502Asn	ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding	16/26	1795/4777	1505/2961	502/986		chr11	TogoVar
ANO1_chr11_70073317_70194530	70163346	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0198 a0001c0001t0002g0198	1	302	0.0033	0	c.195 others(6): Show c.1950+6C>T		ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding	19/25					chr11	TogoVar
ANO2_chr12_5557655_5950259	5578358	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00438.hp1 HG02080.hp2 HG00438.hp1 HG02080.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0011 a0001c0002 a0003c0011	a0001c0002t0001 a0003c0011t0001 a0001c0002t0001 a0003c0011t0001	a0001c0002t0001g0092 a0003c0011t0001g0031 a0001c0002t0001g0092 a0003c0011t0001g0031	2	162	0.0124	0	c.238 others(6): Show c.2386+8C>T		ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	21/24					chr12	TogoVar
ANO2_chr12_5557655_5950259	5615295	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG04204.hp2 HG04204.hp2	a0010 a0010	a0010c0023 a0010c0023	a0010c0023t0001 a0010c0023t0001	a0010c0023t0001g0122 a0010c0023t0001g0122	1	162	0.0062	0	c.181 others(4): Show c.1819G>T	p.Val others(6): Show p.Val607Phe	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	17/25	1861/3683	1819/2997	607/998		chr12	TogoVar
ANO2_chr12_5557655_5950259	5635355	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01346.hp1 HG01358.hp1 HG01884.hp1 others(3): Show HG01346.hp1 HG01358.hp1 HG01884.hp1 HG01884.hp2 HG02109.hp1 HG02258.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0002c0003t0007	a0001c0001t0001g0010 a0001c0001t0002g0133 a0001c0001t0003g0004 others(3): Show a0001c0001t0001g0010 a0001c0001t0002g0133 a0001c0001t0003g0004 a0001c0002t0001g0044 a0002c0003t0007g0137 a0002c0003t0007g0142	6	162	0.0370	0	c.162 others(6): Show c.1621-8C>T		ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	15/24					chr12	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)