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	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	chr	external
AAGAB_chr15_67195667_67259661	67222242	G G	GCGCGCAC others(13): Show GCGCGCACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0222 a0002c0002t0003g0222	1	380	0.0026	20	c.535 others(37): Show c.535+9571_535+9572insTGTGTGTGTGTGTGTGCGCG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9	chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222242	G G	GCGCGCGC others(1): Show GCGCGCGCA	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18952.hp2 NA18990.hp1 others(1): Show HG02109.hp1 NA18952.hp2 NA18990.hp1 NA19067.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0002 a0001c0001t0004 a0002c0002t0002	a0001c0001t0004g0250 a0002c0002t0002g0107 a0002c0002t0002g0110 others(1): Show a0001c0001t0004g0250 a0002c0002t0002g0107 a0002c0002t0002g0110 a0002c0002t0002g0113	4	380	0.0105	8	c.535 others(25): Show c.535+9571_535+9572insTGCGCGCG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9	chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222242	G G	GCGCGCGC others(3): Show GCGCGCGCACA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0264 a0001c0001t0004g0264	1	380	0.0026	10	c.535 others(27): Show c.535+9571_535+9572insTGTGCGCGCG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9	chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222242	G G	GCGCGCGC others(7): Show GCGCGCGCACACACA	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0111 a0002c0002t0002g0111	1	380	0.0026	14	c.535 others(31): Show c.535+9571_535+9572insTGTGTGTGCGCGCG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9	chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222242	G G	GCGCGCGC others(13): Show GCGCGCGCACACACACACACA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	380	0.0026	20	c.535 others(37): Show c.535+9571_535+9572insTGTGTGTGTGTGTGCGCGCG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9	chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222242	G G	GCGCGCGC others(17): Show GCGCGCGCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0116 a0002c0002t0002g0116	1	380	0.0026	24	c.535 others(41): Show c.535+9571_535+9572insTGTGTGTGTGTGTGTGTGCGCGCG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9	chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222242	G G	GCGCGCGC others(13): Show GCGCGCGCGCACACACACACA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0262 a0001c0001t0004g0262	1	380	0.0026	20	c.535 others(37): Show c.535+9571_535+9572insTGTGTGTGTGTGCGCGCGCG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9	chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222242	G G	GCGCGCGT others(5): Show GCGCGCGTGCACA	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0023 a0001c0001t0020g0023	1	380	0.0026	12	c.535 others(29): Show c.535+9571_535+9572insTGTGCACGCGCG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9	chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222242	G G	GCGCGTGC others(9): Show GCGCGTGCGCGCGCGCA	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0233 a0001c0001t0005g0233	1	380	0.0026	16	c.535 others(33): Show c.535+9571_535+9572insTGCGCGCGCGCACGCG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9	chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222242	GCA GCA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02055.hp1 HG02922.hp1 others(2): Show HG00639.hp2 HG02055.hp1 HG02922.hp1 HG03540.hp1 HG04184.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0047 a0001c0001t0002g0058 a0001c0001t0002g0064 others(2): Show a0001c0001t0002g0047 a0001c0001t0002g0058 a0001c0001t0002g0064 a0002c0002t0002g0039 a0002c0002t0002g0049	5	380	0.0132	-2	c.535 others(19): Show c.535+9570_535+9571delTG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9	chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222244	A A	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG00741.hp2 others(31): Show HG00438.hp1 HG00558.hp2 HG00741.hp2 HG01070.hp1 HG01255.hp1 HG02040.hp1 HG02083.hp1 HG02647.hp1 HG02896.hp2 HG02897.hp2 HG03490.hp2 HG03831.hp2 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18949.hp1 NA18950.hp2 NA18965.hp1 NA18965.hp2 NA18980.hp2 NA18984.hp1 NA18989.hp2 NA18998.hp1 NA19012.hp2 NA19054.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19081.hp1 NA19086.hp2 NA19087.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0007 a0001c0001 a0002c0002 a0005c0007	a0001c0001t0002 a0001c0001t0004 a0001c0001t0019 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0019 a0002c0002t0002 a0002c0002t0003 a0005c0007t0002	a0001c0001t0002g0003 a0001c0001t0002g0033 a0001c0001t0002g0051 others(30): Show a0001c0001t0002g0003 a0001c0001t0002g0033 a0001c0001t0002g0051 a0001c0001t0004g0129 a0001c0001t0004g0244 a0001c0001t0004g0245 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0249 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0004g0257 a0001c0001t0004g0274 a0001c0001t0004g0280 a0001c0001t0004g0301 a0001c0001t0004g0354 a0001c0001t0019g0048 a0002c0002t0002g0024 a0002c0002t0002g0062 a0002c0002t0002g0065 a0002c0002t0002g0101 a0002c0002t0002g0103 a0002c0002t0002g0108 a0002c0002t0002g0112 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0124 a0002c0002t0002g0126 a0002c0002t0003g0160 a0002c0002t0003g0229 a0005c0007t0002g0098	34	380	0.0895	0	c.535 others(8): Show c.535+9570T>C	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9	chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222246	A A	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00639.hp2 HG02055.hp1 others(18): Show HG00438.hp1 HG00639.hp2 HG02055.hp1 HG02071.hp2 HG02083.hp1 HG02647.hp1 HG02922.hp1 HG03540.hp1 HG04184.hp2 NA18940.hp2 NA18944.hp1 NA18949.hp1 NA18965.hp2 NA18980.hp2 NA19012.hp2 NA19054.hp1 NA19057.hp2 NA19060.hp1 NA19081.hp1 NA19086.hp2 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0002	a0001c0001t0001g0308 a0001c0001t0002g0047 a0001c0001t0002g0058 others(18): Show a0001c0001t0001g0308 a0001c0001t0002g0047 a0001c0001t0002g0058 a0001c0001t0002g0064 a0001c0001t0004g0129 a0001c0001t0004g0244 a0001c0001t0004g0247 a0001c0001t0004g0249 a0001c0001t0004g0252 a0001c0001t0004g0274 a0001c0001t0004g0301 a0001c0001t0004g0354 a0002c0002t0002g0039 a0002c0002t0002g0049 a0002c0002t0002g0062 a0002c0002t0002g0065 a0002c0002t0002g0103 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0124 a0002c0002t0002g0126	21	380	0.0553	0	c.535 others(8): Show c.535+9568T>C	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9	chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222248	A A	G G	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18980.hp2 NA18965.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0244 a0001c0001t0004g0252 a0001c0001t0004g0244 a0001c0001t0004g0252	2	380	0.0053	0	c.535 others(8): Show c.535+9566T>C	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9	chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222281	CA CA	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01069.hp1 NA18747.hp1 others(1): Show HG00733.hp2 HG01069.hp1 NA18747.hp1 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0005 a0001c0001t0009	a0001c0001t0005g0232 a0001c0001t0005g0235 a0001c0001t0009g0006 a0001c0001t0005g0232 a0001c0001t0005g0235 a0001c0001t0009g0006	4	380	0.0105	-1	c.535 others(9): Show c.535+9532delT	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9	chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222282	A A	AC AC	intron_variant intron_variant	MODIFIER	HG02738.hp2 NA18949.hp2 NA19077.hp1 others(1): Show HG02738.hp2 NA18949.hp2 NA19077.hp1 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0003 a0001c0001t0005 a0002c0002t0003	a0001c0001t0005g0233 a0001c0001t0005g0234 a0002c0002t0003g0141 others(1): Show a0001c0001t0005g0233 a0001c0001t0005g0234 a0002c0002t0003g0141 a0002c0002t0003g0225	4	380	0.0105	1	c.535 others(9): Show c.535+9531dupG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9	chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222282	A A	ACACACAC others(4): Show ACACACACACAC	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0229 a0002c0002t0003g0229	1	380	0.0026	11	c.535 others(28): Show c.535+9531_535+9532insGTGTGTGTGTG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9	chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222282	A A	ACACACAC others(8): Show ACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18979.hp1 HG02135.hp1 NA18979.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0152 a0002c0002t0003g0186 a0002c0002t0003g0152 a0002c0002t0003g0186	2	380	0.0053	15	c.535 others(32): Show c.535+9531_535+9532insGTGTGTGTGTGTGTG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9	chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222282	A A	ACACACAC others(16): Show ACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0155 a0002c0002t0003g0155	1	380	0.0026	23	c.535 others(40): Show c.535+9531_535+9532insGTGTGTGTGTGTGTGTGTGTGTG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9	chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222282	A A	ACACACAC others(18): Show ACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0160 a0002c0002t0003g0160	1	380	0.0026	25	c.535 others(42): Show c.535+9531_535+9532insGTGTGTGTGTGTGTGTGTGTGTGTG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9	chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222282	A A	ACACACAC others(20): Show ACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0208 a0002c0002t0003g0208	1	380	0.0026	27	c.535 others(44): Show c.535+9531_535+9532insGTGTGTGTGTGTGTGTGTGTGTGTGTG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9	chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222282	A A	ACACACAC others(22): Show ACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18963.hp1 NA18947.hp2 NA18963.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0170 a0002c0002t0003g0201 a0002c0002t0003g0170 a0002c0002t0003g0201	2	380	0.0053	29	c.535 others(46): Show c.535+9531_535+9532insGTGTGTGTGTGTGTGTGTGTGTGTGTGT G	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9	chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222282	A A	ACACACAC others(33): Show ACACACACACACACACACACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0133 a0002c0002t0003g0133	1	380	0.0026	40	c.535 others(57): Show c.535+9531_535+9532insGGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9	chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222282	A A	ACACACAC others(31): Show ACACACACACACACACACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01168.hp2 HG01169.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0184 a0002c0002t0003g0185 a0002c0002t0003g0184 a0002c0002t0003g0185	2	380	0.0053	38	c.535 others(55): Show c.535+9531_535+9532insGGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9	chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222282	A A	ACACACAC others(27): Show ACACACACACACACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0132 a0002c0002t0003g0132	1	380	0.0026	34	c.535 others(51): Show c.535+9531_535+9532insGGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9	chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222282	A A	ACACACAC others(25): Show ACACACACACACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19083.hp2 NA19010.hp2 NA19083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0139 a0002c0002t0003g0203 a0002c0002t0003g0139 a0002c0002t0003g0203	2	380	0.0053	32	c.535 others(49): Show c.535+9531_535+9532insGGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9	chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222282	A A	ACACACAC others(23): Show ACACACACACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01928.hp1 HG01981.hp2 others(1): Show HG01257.hp1 HG01928.hp1 HG01981.hp2 NA18987.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0147 a0002c0002t0003g0164 a0002c0002t0003g0217 others(1): Show a0002c0002t0003g0147 a0002c0002t0003g0164 a0002c0002t0003g0217 a0002c0002t0003g0230	4	380	0.0105	30	c.535 others(47): Show c.535+9531_535+9532insGGTGTGTGTGTGTGTGTGTGTGTGTGTG TG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9	chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222282	A A	ACACACAC others(21): Show ACACACACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG04115.hp1 HG01496.hp1 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0140 a0002c0002t0003g0239 a0002c0002t0003g0140 a0002c0002t0003g0239	2	380	0.0053	28	c.535 others(45): Show c.535+9531_535+9532insGGTGTGTGTGTGTGTGTGTGTGTGTGTG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9	chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222282	A A	ACACACAC others(19): Show ACACACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02486.hp2 NA18943.hp2 others(4): Show HG02004.hp1 HG02486.hp2 NA18943.hp2 NA18964.hp2 NA18969.hp1 NA19005.hp2 NA19054.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0137 a0002c0002t0003g0138 a0002c0002t0003g0166 others(4): Show a0002c0002t0003g0137 a0002c0002t0003g0138 a0002c0002t0003g0166 a0002c0002t0003g0167 a0002c0002t0003g0183 a0002c0002t0003g0194 a0002c0002t0003g0211	7	380	0.0184	26	c.535 others(43): Show c.535+9531_535+9532insGGTGTGTGTGTGTGTGTGTGTGTGTG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9	chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222282	A A	ACACACAC others(17): Show ACACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01175.hp2 NA18982.hp1 others(4): Show HG00733.hp1 HG01175.hp2 NA18982.hp1 NA18989.hp1 NA19063.hp1 NA19077.hp2 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0163 a0002c0002t0003g0168 a0002c0002t0003g0169 others(4): Show a0002c0002t0003g0163 a0002c0002t0003g0168 a0002c0002t0003g0169 a0002c0002t0003g0181 a0002c0002t0003g0182 a0002c0002t0003g0216 a0002c0002t0003g0231	7	380	0.0184	24	c.535 others(41): Show c.535+9531_535+9532insGGTGTGTGTGTGTGTGTGTGTGTG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9	chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222282	A A	ACACACAC others(15): Show ACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02132.hp1 HG04204.hp2 others(2): Show HG02071.hp1 HG02132.hp1 HG04204.hp2 NA19058.hp1 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0145 a0002c0002t0003g0162 a0002c0002t0003g0180 others(2): Show a0002c0002t0003g0145 a0002c0002t0003g0162 a0002c0002t0003g0180 a0002c0002t0003g0188 a0002c0002t0003g0224	5	380	0.0132	22	c.535 others(39): Show c.535+9531_535+9532insGGTGTGTGTGTGTGTGTGTGTG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9	chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222282	A A	ACACACAC others(17): Show ACACACACACACACACACACACCCC	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0214 a0002c0002t0003g0214	1	380	0.0026	24	c.535 others(41): Show c.535+9531_535+9532insGGGGTGTGTGTGTGTGTGTGTGTG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9	chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222282	A A	ACACACAC others(13): Show ACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG01106.hp1 others(6): Show HG00735.hp1 HG00735.hp2 HG01106.hp1 HG01167.hp1 HG01346.hp1 HG01516.hp2 NA18612.hp1 NA18747.hp2 NA19085.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0007 a0002c0002t0003g0008 a0002c0002t0003g0143 others(4): Show a0002c0002t0003g0007 a0002c0002t0003g0008 a0002c0002t0003g0143 a0002c0002t0003g0149 a0002c0002t0003g0165 a0002c0002t0003g0179 a0002c0002t0003g0223	9	380	0.0237	20	c.535 others(37): Show c.535+9531_535+9532insGGTGTGTGTGTGTGTGTGTG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9	chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222282	A A	ACACACAC others(11): Show ACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01943.hp1 HG02129.hp2 others(4): Show HG01934.hp2 HG01943.hp1 HG02129.hp2 HG02148.hp2 NA18968.hp2 NA19066.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0148 a0002c0002t0003g0154 a0002c0002t0003g0178 others(4): Show a0002c0002t0003g0148 a0002c0002t0003g0154 a0002c0002t0003g0178 a0002c0002t0003g0189 a0002c0002t0003g0193 a0002c0002t0003g0207 a0002c0002t0003g0361	7	380	0.0184	18	c.535 others(35): Show c.535+9531_535+9532insGGTGTGTGTGTGTGTGTG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9	chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222282	A A	ACACACAC others(9): Show ACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA18939.hp1 NA18942.hp1 others(2): Show HG01081.hp1 NA18939.hp1 NA18942.hp1 NA18960.hp2 NA19075.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0157 a0002c0002t0003g0176 a0002c0002t0003g0192 others(2): Show a0002c0002t0003g0157 a0002c0002t0003g0176 a0002c0002t0003g0192 a0002c0002t0003g0209 a0002c0002t0003g0228	5	380	0.0132	16	c.535 others(33): Show c.535+9531_535+9532insGGTGTGTGTGTGTGTG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9	chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222282	A A	ACACACAC others(7): Show ACACACACACACACC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01515.hp2 HG04184.hp1 HG00280.hp2 HG01515.hp2 HG04184.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0161 a0002c0002t0003g0174 a0002c0002t0003g0195 a0002c0002t0003g0161 a0002c0002t0003g0174 a0002c0002t0003g0195	3	380	0.0079	14	c.535 others(31): Show c.535+9531_535+9532insGGTGTGTGTGTGTG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9	chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222282	A A	ACACACAC others(5): Show ACACACACACACC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02257.hp2 HG02922.hp2 others(4): Show HG01074.hp1 HG02257.hp2 HG02922.hp2 HG03491.hp2 NA18970.hp1 NA19067.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0144 a0002c0002t0003g0156 a0002c0002t0003g0172 others(4): Show a0002c0002t0003g0144 a0002c0002t0003g0156 a0002c0002t0003g0172 a0002c0002t0003g0199 a0002c0002t0003g0205 a0002c0002t0003g0206 a0002c0002t0003g0212	7	380	0.0184	12	c.535 others(29): Show c.535+9531_535+9532insGGTGTGTGTGTG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9	chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222282	A A	ACACACAC others(3): Show ACACACACACC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02027.hp2 HG02273.hp2 others(3): Show HG00558.hp1 HG02027.hp2 HG02273.hp2 HG02602.hp2 HG03710.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0151 a0002c0002t0003g0142 a0002c0002t0003g0171 others(3): Show a0002c0002t0001g0151 a0002c0002t0003g0142 a0002c0002t0003g0171 a0002c0002t0003g0190 a0002c0002t0003g0198 a0002c0002t0003g0210	6	380	0.0158	10	c.535 others(27): Show c.535+9531_535+9532insGGTGTGTGTG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9	chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222282	A A	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp2 HG00673.hp2 others(16): Show HG00438.hp2 HG00609.hp2 HG00673.hp2 HG01255.hp2 HG01261.hp1 HG01361.hp2 HG01891.hp1 NA18940.hp1 NA18959.hp1 NA18966.hp1 NA18978.hp2 NA18980.hp1 NA18984.hp2 NA18986.hp1 NA19012.hp1 NA19055.hp2 NA19060.hp2 NA19080.hp1 NA19087.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0146 a0002c0002t0003g0150 a0002c0002t0003g0153 others(16): Show a0002c0002t0003g0146 a0002c0002t0003g0150 a0002c0002t0003g0153 a0002c0002t0003g0159 a0002c0002t0003g0173 a0002c0002t0003g0175 a0002c0002t0003g0177 a0002c0002t0003g0191 a0002c0002t0003g0196 a0002c0002t0003g0197 a0002c0002t0003g0200 a0002c0002t0003g0213 a0002c0002t0003g0218 a0002c0002t0003g0219 a0002c0002t0003g0220 a0002c0002t0003g0221 a0002c0002t0003g0222 a0002c0002t0003g0226 a0002c0002t0003g0227	19	380	0.0500	0	c.535 others(8): Show c.535+9532T>G	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9	chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222283	C C	CACA CACA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00741.hp2 HG01070.hp1 HG00558.hp2 HG00741.hp2 HG01070.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0007 a0001c0001 a0002c0002 a0005c0007	a0001c0001t0002 a0002c0002t0002 a0005c0007t0002 a0001c0001t0002 a0002c0002t0002 a0005c0007t0002	a0001c0001t0002g0051 a0002c0002t0002g0101 a0005c0007t0002g0098 a0001c0001t0002g0051 a0002c0002t0002g0101 a0005c0007t0002g0098	3	380	0.0079	3	c.535 others(20): Show c.535+9530_535+9531insTGT	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9	chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222283	C C	CACACACA others(8): Show CACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0024 a0002c0002t0002g0024	1	380	0.0026	15	c.535 others(32): Show c.535+9530_535+9531insTGTGTGTGTGTGTGT	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9	chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222284	C C	A A	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0187 a0002c0002t0003g0187	1	380	0.0026	0	c.535 others(8): Show c.535+9530G>T	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9	chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222493	C C	T T	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	380	0.0026	0	c.535 others(8): Show c.535+9321G>A	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9	chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222578	A A	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA18522.hp1 HG02723.hp2 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0130 a0002c0002t0007g0131 a0002c0002t0007g0130 a0002c0002t0007g0131	2	380	0.0053	0	c.535 others(8): Show c.535+9236T>C	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9	chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222714	C C	T T	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0348 a0001c0001t0001g0348	1	380	0.0026	0	c.535 others(8): Show c.535+9100G>A	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9	chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222720	C C	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0337 a0001c0001t0001g0337	1	380	0.0026	0	c.535 others(8): Show c.535+9094G>A	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9	chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222736	A A	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02895.hp2 HG01109.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0055 a0001c0001t0002g0056	2	380	0.0053	0	c.535 others(8): Show c.535+9078T>C	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9	chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222737	T T	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01257.hp1 NA18963.hp1 others(1): Show HG00733.hp1 HG01257.hp1 NA18963.hp1 NA19077.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0164 a0002c0002t0003g0168 a0002c0002t0003g0169 others(1): Show a0002c0002t0003g0164 a0002c0002t0003g0168 a0002c0002t0003g0169 a0002c0002t0003g0170	4	380	0.0105	0	c.535 others(8): Show c.535+9077A>G	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9	chr15	TogoVar
AAGAB_chr15_67195667_67259661	67223084	T T	C C	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0024 a0002c0002t0002g0024	1	380	0.0026	0	c.535 others(8): Show c.535+8730A>G	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9	chr15	TogoVar
AAGAB_chr15_67195667_67259661	67223153	C C	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0337 a0001c0001t0001g0337	1	380	0.0026	0	c.535 others(8): Show c.535+8661G>A	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9	chr15	TogoVar
AAGAB_chr15_67195667_67259661	67223157	G G	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01261.hp2 HG01346.hp2 others(4): Show HG00323.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01496.hp2 HG02004.hp2 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0276 a0001c0001t0001g0289 others(3): Show a0001c0001t0001g0010 a0001c0001t0001g0276 a0001c0001t0001g0289 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0355	7	380	0.0184	0	c.535 others(8): Show c.535+8657C>T	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9	chr15	TogoVar

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