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	distance	status	chr	external
ACTN4_chr19_38642649_38736589	38735772	C C	CAGGGCGG others(8): Show CAGGGCGGGGGTTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG03491.hp2 HG01515.hp2 HG01517.hp2 HG03491.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0013 a0001c0004t0005 a0001c0004t0013	a0001c0004t0005g0229 a0001c0004t0005g0233 a0001c0004t0013g0228 a0001c0004t0005g0229 a0001c0004t0005g0233 a0001c0004t0013g0228	3	314	0.0096	15	c.63 others(26): Show c.6340_*6341insAGGGCGGGGGTTCTG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4184		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735772	C C	CGGGGCGG others(8): Show CGGGGCGGGGGTTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01106.hp1 HG03490.hp2 HG00735.hp2 HG01106.hp1 HG03490.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0051 a0001c0003t0009 a0001c0003t0051	a0001c0003t0009g0182 a0001c0003t0009g0192 a0001c0003t0051g0189 a0001c0003t0009g0182 a0001c0003t0009g0192 a0001c0003t0051g0189	3	314	0.0096	15	c.63 others(26): Show c.6340_*6341insGGGGCGGGGGTTCTG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4184		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735773	G G	GGGGCGGG others(8): Show GGGGCGGGGGTTCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0231 a0001c0004t0005g0231	1	314	0.0032	15	c.63 others(26): Show c.6341_*6342insGGGCGGGGGTTCTGC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4185		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735797	C C	CAGGGCGG others(8): Show CAGGGCGGGGGTTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0046 a0001c0006t0046	a0001c0006t0046g0238 a0001c0006t0046g0238	1	314	0.0032	15	c.63 others(26): Show c.6365_*6366insAGGGCGGGGGTTCTG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4209		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735797	C C	CGGGGCGG others(8): Show CGGGGCGGGGGTTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG02896.hp1 HG02897.hp1 others(1): Show HG01975.hp1 HG02896.hp1 HG02897.hp1 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0007 a0001c0004 a0001c0007	a0001c0004t0005 a0001c0007t0001 a0001c0004t0005 a0001c0007t0001	a0001c0004t0005g0222 a0001c0007t0001g0200 a0001c0007t0001g0202 others(1): Show a0001c0004t0005g0222 a0001c0007t0001g0200 a0001c0007t0001g0202 a0001c0007t0001g0204	4	314	0.0127	15	c.63 others(26): Show c.6365_*6366insGGGGCGGGGGTTCTG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4209		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735798	G G	GGGGCGGG others(8): Show GGGGCGGGGGTTCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 HG03491.hp2 HG02004.hp2 HG03491.hp2	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0005 a0001c0006t0005 a0001c0004t0005 a0001c0006t0005	a0001c0004t0005g0233 a0001c0006t0005g0237 a0001c0004t0005g0233 a0001c0006t0005g0237	2	314	0.0064	15	c.63 others(26): Show c.6366_*6367insGGGCGGGGGTTCTGC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4210		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735817	G G	GCGGGCGG others(8): Show GCGGGCGGGGCGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	314	0.0032	15	c.63 others(26): Show c.6385_*6386insCGGGCGGGGCGGGGC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4229		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735837	G G	GCGGGCGG others(8): Show GCGGGCGGGGCGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0261 a0001c0001t0004g0261	1	314	0.0032	15	c.64 others(26): Show c.6405_*6406insCGGGCGGGGCGGGGC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4249		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735837	G G	GGGGGCGG others(8): Show GGGGGCGGGGCGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	314	0.0032	15	c.64 others(26): Show c.6405_*6406insGGGGCGGGGCGGGGC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4249		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735843	G G	GGGGCGGT others(8): Show GGGGCGGTGGTTCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG02647.hp2 HG00423.hp1 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0003 a0001c0002t0001 a0001c0003t0003	a0001c0002t0001g0074 a0001c0003t0003g0195 a0001c0002t0001g0074 a0001c0003t0003g0195	2	314	0.0064	15	c.64 others(26): Show c.6411_*6412insGGGCGGTGGTTCTGC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4255		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735847	C C	CGGGGCGG others(8): Show CGGGGCGGGGGTTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG03492.hp1 HG01891.hp2 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0001 a0001c0011t0012 a0001c0002t0001 a0001c0011t0012	a0001c0002t0001g0274 a0001c0011t0012g0291 a0001c0002t0001g0274 a0001c0011t0012g0291	2	314	0.0064	15	c.64 others(26): Show c.6415_*6416insGGGGCGGGGGTTCTG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4259		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735848	G G	GGGGCGGT others(8): Show GGGGCGGTGGTTCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0295 a0001c0001t0043g0295	1	314	0.0032	15	c.64 others(26): Show c.6416_*6417insGGGCGGTGGTTCTGC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4260		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735877	C C	CGGGGCGG others(8): Show CGGGGCGGGGGTTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0274 a0001c0002t0001g0274	1	314	0.0032	15	c.64 others(26): Show c.6445_*6446insGGGGCGGGGGTTCTG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4289		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735883	G G	GGGGCGGT others(8): Show GGGGCGGTGGTTCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03471.hp2 NA20300.hp1 HG03130.hp1 HG03471.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0021 a0001c0002t0001 a0001c0001t0021 a0001c0002t0001	a0001c0001t0021g0083 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0001t0021g0083 a0001c0002t0001g0282 a0001c0002t0001g0283	3	314	0.0096	15	c.64 others(26): Show c.6451_*6452insGGGCGGTGGTTCTGC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4295		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735912	C C	CGGGGCGG others(8): Show CGGGGCGGGGGTTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG03688.hp1 HG00642.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0036 a0001c0001t0004 a0001c0001t0036	a0001c0001t0004g0221 a0001c0001t0036g0268 a0001c0001t0004g0221 a0001c0001t0036g0268	2	314	0.0064	15	c.64 others(26): Show c.6480_*6481insGGGGCGGGGGTTCTG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4324		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735955	G G	GGCGGGGC others(8): Show GGCGGGGCGGGGCGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG02300.hp1 HG02602.hp2 others(4): Show HG01106.hp1 HG02300.hp1 HG02602.hp2 HG03041.hp2 HG03927.hp1 HG03942.hp2 NA20805.hp2	a0001 a0001	a0001c0003 a0001c0014 a0001c0003 a0001c0014	a0001c0003t0003 a0001c0003t0009 a0001c0003t0051 others(1): Show a0001c0003t0003 a0001c0003t0009 a0001c0003t0051 a0001c0014t0003	a0001c0003t0003g0088 a0001c0003t0003g0089 a0001c0003t0003g0178 others(4): Show a0001c0003t0003g0088 a0001c0003t0003g0089 a0001c0003t0003g0178 a0001c0003t0003g0194 a0001c0003t0009g0183 a0001c0003t0051g0189 a0001c0014t0003g0193	7	314	0.0223	15	c.65 others(26): Show c.6523_*6524insGCGGGGCGGGGCGGT	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4367		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735962	G G	GCGGGCGG others(8): Show GCGGGCGGGGCGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 NA20805.hp2 HG02300.hp1 NA20805.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0088 a0001c0003t0003g0089 a0001c0003t0003g0088 a0001c0003t0003g0089	2	314	0.0064	15	c.65 others(26): Show c.6530_*6531insCGGGCGGGGCGGGGC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4374		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735962	G G	GGGGGCGG others(8): Show GGGGGCGGGGCGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG01952.hp1 HG01981.hp2 others(5): Show HG00558.hp2 HG01952.hp1 HG01981.hp2 HG02630.hp2 HG02809.hp2 NA18986.hp1 NA19070.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0005 a0001c0002t0007 others(1): Show a0001c0002t0001 a0001c0002t0005 a0001c0002t0007 a0001c0002t0042	a0001c0002t0001g0038 a0001c0002t0001g0289 a0001c0002t0005g0054 others(5): Show a0001c0002t0001g0038 a0001c0002t0001g0289 a0001c0002t0005g0054 a0001c0002t0007g0023 a0001c0002t0007g0216 a0001c0002t0007g0217 a0001c0002t0007g0219 a0001c0002t0042g0290	8	314	0.0255	15	c.65 others(26): Show c.6530_*6531insGGGGCGGGGCGGGGC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4374		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735968	G G	GGGGCGGT others(8): Show GGGGCGGTGGTTCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00741.hp1 HG00323.hp1 HG00741.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0191 a0001c0003t0003g0213 a0001c0003t0003g0191 a0001c0003t0003g0213	2	314	0.0064	15	c.65 others(26): Show c.6536_*6537insGGGCGGTGGTTCTGC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4380		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735972	C C	CGGGGCGG others(8): Show CGGGGCGGGGGTTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0299 a0001c0001t0019g0299	1	314	0.0032	15	c.65 others(26): Show c.6540_*6541insGGGGCGGGGGTTCTG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4384		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38736578	A A	AGCAAGGG others(8): Show AGCAAGGGGCGTCGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0024 a0001c0001t0002 a0001c0001t0024	a0001c0001t0002g0091 a0001c0001t0024g0092 a0001c0001t0002g0091 a0001c0001t0024g0092	2	314	0.0064	15	c.71 others(26): Show c.7146_*7147insGCAAGGGGCGTCGGG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4990		chr19	TogoVar
ACTR1A_chr10_102474229_102507712	102493001	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01952.hp2 HG01981.hp1 others(10): Show HG00673.hp2 HG01952.hp2 HG01981.hp1 HG01993.hp1 HG02572.hp1 HG02630.hp2 HG03453.hp1 HG03579.hp1 NA18942.hp1 NA18954.hp2 NA18975.hp2 NA19043.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0195 a0001c0001t0003g0200 a0001c0001t0003g0205 others(9): Show a0001c0001t0003g0195 a0001c0001t0003g0200 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0237 a0001c0001t0004g0024 a0001c0001t0004g0054 a0001c0001t0004g0056	13	388	0.0335	15	c.49- others(30): Show c.49-2403_49-2389dupTTTTTTTTTTTTTTT	ACTR1A	ENSG00000138107.13	transcript	ENST00000369905.9	protein_coding	1/10			chr10	TogoVar
ACTRT2_chr1_3016467_3027903	3016635	G G	GAGGAGGG others(8): Show GAGGAGGGAGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02622.hp2 HG02922.hp1 others(4): Show HG01109.hp1 HG02622.hp2 HG02922.hp1 HG03225.hp2 HG03540.hp2 NA18906.hp2 NA19043.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0001c0001t0001 a0004c0005t0001	a0001c0001t0001g0000 a0004c0005t0001g0000 a0001c0001t0001g0000 a0004c0005t0001g0000	7	366	0.0191	15	c.-50 others(26): Show c.-5052_-5051insAGGAGGGAGGGAGGA	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding		4831		chr1	TogoVar
ACTRT3_chr3_169761921_169774561	169770466	A A	AAATATAT others(8): Show AAATATATTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	15	c.-94 others(24): Show c.-947_-946insGATATATAATATATT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		906		chr3	TogoVar
ACVR1_chr2_157731446_157881330	157826697	G G	GAAGGAAA others(8): Show GAAGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0100 a0001c0002t0001g0100	1	174	0.0058	15	c.-18 others(34): Show c.-182-8153_-182-8139dupTCCTTTCCTTTCCTT	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157862869	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0030 a0001c0004t0008g0030	1	174	0.0058	15	c.-18 others(36): Show c.-183+12912_-183+12926dupTTTTTTTTTTTTTTT	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/10			chr2	TogoVar
ACVR2A_chr2_147840029_147935822	147844400	G G	GGCCGCCG others(8): Show GGCCGCCGCCGCCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp2 NA19087.hp2 NA18968.hp2 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0053 a0001c0002t0001g0122 a0001c0002t0001g0053 a0001c0002t0001g0122	2	338	0.0059	15	c.-75 others(24): Show c.-753_-752insGCCGCCGCCGCCGCC	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding		628		chr2	TogoVar
ACVR2A_chr2_147840029_147935822	147844409	T T	TGCCGCCG others(8): Show TGCCGCCGCCGCCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 NA18946.hp2 HG03927.hp1 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0281 a0001c0001t0003g0308 a0001c0001t0003g0281 a0001c0001t0003g0308	2	338	0.0059	15	c.-74 others(24): Show c.-744_-743insGCCGCCGCCGCCGCC	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding		619		chr2	TogoVar
ACVR2A_chr2_147840029_147935822	147868621	T T	TTTATTTA others(8): Show TTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18959.hp2 NA18974.hp1 others(2): Show HG00408.hp1 NA18959.hp2 NA18974.hp1 NA19066.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0008 a0001c0008t0008 a0001c0001t0008 a0001c0008t0008	a0001c0001t0008g0018 a0001c0001t0008g0019 a0001c0001t0008g0124 others(2): Show a0001c0001t0008g0018 a0001c0001t0008g0019 a0001c0001t0008g0124 a0001c0001t0008g0125 a0001c0008t0008g0126	5	338	0.0148	15	c.55+ others(32): Show c.55+23416_55+23417insATTTATTTATTTATT	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACY1_chr3_51978535_51994197	51981894	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	338	0.0030	15	c.-17 others(26): Show c.-1714_-1713insAAAAAAAAAAAAAAA	ACY1	ENSG00000243989.9	transcript	ENST00000636358.2	protein_coding		1640		chr3	TogoVar
ACYP2_chr2_53966113_54310300	54035009	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0052 a0001c0002t0002g0052	1	272	0.0037	15	c.63- others(32): Show c.63-15940_63-15926dupAAAAAAAAAAAAAAA	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54115905	G G	GGGGGGGG others(8): Show GGGGGGGGGGGGGGGT	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA18522.hp1 HG01109.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0210 a0001c0001t0001g0105 a0001c0001t0001g0210	2	272	0.0074	15	c.278 others(34): Show c.278-19548_278-19547insGGGGGGGGGGGGGGT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	4/6			chr2	TogoVar
ACYP2_chr2_53966113_54310300	54197942	A A	ATATTGTA others(8): Show ATATTGTATTGTATTG	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA18940.hp2 NA18951.hp1 HG02630.hp2 NA18940.hp2 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0194 a0001c0001t0001g0241 a0001c0001t0001g0160 a0001c0001t0001g0194 a0001c0001t0001g0241	3	272	0.0110	15	c.404 others(34): Show c.404+59274_404+59288dupGTATTGTATTGTATT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54201594	C C	CTTTCTTT others(8): Show CTTTCTTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	272	0.0037	15	c.404 others(34): Show c.404+62847_404+62848insTTCTTTTCTTTCTTT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54201679	T T	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0103 a0001c0002t0002g0103	1	272	0.0037	15	c.404 others(34): Show c.404+62935_404+62936insTTCTTTCTTTCTTCT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54202706	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	272	0.0037	15	c.404 others(34): Show c.404+63985_404+63999dupTTTTTTTTTTTTTTT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54256816	G G	GTTTGTTT others(8): Show GTTTGTTTTGTTTTGT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0104 a0001c0002t0002g0104	1	272	0.0037	15	c.405 others(34): Show c.405-47861_405-47847dupTTTGTTTTGTTTTGT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54279585	C C	CAGAGCTG others(8): Show CAGAGCTGCAGTCTCA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02559.hp1 HG02818.hp1 others(1): Show HG01109.hp2 HG02559.hp1 HG02818.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0105 a0001c0002t0001g0098 a0001c0002t0002g0060 others(1): Show a0001c0001t0001g0105 a0001c0002t0001g0098 a0001c0002t0002g0060 a0001c0002t0003g0074	4	272	0.0147	15	c.405 others(34): Show c.405-25088_405-25074dupAAGAGCTGCAGTCTC	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ADA2_chr22_17173790_17224435	17184983	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0017 a0002c0006t0017	a0002c0006t0017g0018 a0002c0006t0017g0018	1	408	0.0025	15	c.108 others(34): Show c.1082-2223_1082-2222insATATATATATATATA	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	7/9			chr22	TogoVar
ADAD1_chr4_122374011_122434784	122378285	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG03704.hp1 NA19003.hp2 others(1): Show HG00609.hp2 HG03704.hp1 NA19003.hp2 NA19057.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0001 a0005c0008t0001 a0001c0001t0001 a0005c0008t0001	a0001c0001t0001g0009 a0001c0001t0001g0140 a0001c0001t0001g0156 others(1): Show a0001c0001t0001g0009 a0001c0001t0001g0140 a0001c0001t0001g0156 a0005c0008t0001g0026	4	376	0.0106	15	c.-91 others(24): Show c.-913_-912insAAAAAAAAAAAAAAA	ADAD1	ENSG00000164113.11	transcript	ENST00000296513.7	protein_coding		725		chr4	TogoVar
ADAL_chr15_43325672_43359569	43334664	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0109 a0001c0002t0001g0109	1	386	0.0026	15	c.-16 others(32): Show c.-163-281_-163-280insATATATATATATATA	ADAL	ENSG00000168803.16	transcript	ENST00000562188.7	protein_coding	3/12			chr15	TogoVar
ADAL_chr15_43325672_43359569	43357270	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0042 a0001c0001t0007g0042	1	386	0.0026	15	c.53 others(26): Show c.5325_*5326insTTTTTTTTTTTTTTT	ADAL	ENSG00000168803.16	transcript	ENST00000562188.7	protein_coding		2702		chr15	TogoVar
ADAM10_chr15_58583809_58754707	58588633	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 NA18957.hp1 NA18964.hp1 others(5): Show HG02630.hp2 NA18957.hp1 NA18964.hp1 NA18975.hp2 NA18989.hp1 NA19058.hp2 NA19084.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0019 a0001c0001t0021 others(1): Show a0001c0001t0007 a0001c0001t0019 a0001c0001t0021 a0001c0001t0026	a0001c0001t0007g0306 a0001c0001t0007g0308 a0001c0001t0007g0311 others(5): Show a0001c0001t0007g0306 a0001c0001t0007g0308 a0001c0001t0007g0311 a0001c0001t0007g0322 a0001c0001t0019g0309 a0001c0001t0019g0319 a0001c0001t0021g0329 a0001c0001t0026g0301	8	342	0.0234	15	c.89 others(26): Show c.8913_*8914insTTTTTTTTTTTTTTT	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding		175		chr15	TogoVar
ADAM10_chr15_58583809_58754707	58620660	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0119 a0001c0001t0119	a0001c0001t0119g0063 a0001c0001t0119g0063	1	342	0.0029	15	c.151 others(32): Show c.1511+796_1511+810dupAAAAAAAAAAAAAAA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	11/15			chr15	TogoVar
ADAM10_chr15_58583809_58754707	58647248	A A	ATTTCTTT others(8): Show ATTTCTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0005 a0001c0001t0078g0005	1	342	0.0029	15	c.586 others(32): Show c.586-1045_586-1044insAAAAAAAAAAAGAAA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	5/15			chr15	TogoVar
ADAM10_chr15_58583809_58754707	58647248	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02717.hp2 HG02735.hp1 others(4): Show HG01258.hp2 HG02717.hp2 HG02735.hp1 HG03492.hp2 HG04115.hp1 NA19088.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0040 others(4): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0040 a0001c0001t0046 a0001c0001t0085 a0001c0001t0093 a0001c0001t0119	a0001c0001t0001g0056 a0001c0001t0012g0029 a0001c0001t0040g0332 others(4): Show a0001c0001t0001g0056 a0001c0001t0012g0029 a0001c0001t0040g0332 a0001c0001t0046g0085 a0001c0001t0085g0047 a0001c0001t0093g0033 a0001c0001t0119g0063	7	342	0.0205	15	c.586 others(32): Show c.586-1059_586-1045dupAAAAAAAAAAAAAAA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	5/15			chr15	TogoVar
ADAM10_chr15_58583809_58754707	58672786	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA20129.hp2 HG03540.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0052 a0001c0001t0015 a0001c0001t0052	a0001c0001t0015g0339 a0001c0001t0052g0001 a0001c0001t0015g0339 a0001c0001t0052g0001	2	342	0.0059	15	c.484 others(32): Show c.484+6323_484+6337dupTTTTTTTTTTTTTTT	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	4/15			chr15	TogoVar
ADAM11_chr17_44753988_44786846	44778713	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01358.hp1 HG02818.hp1 others(1): Show HG01243.hp1 HG01358.hp1 HG02818.hp1 NA18973.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0031 a0001c0002t0003g0135 a0001c0002t0003g0175 a0001c0002t0003g0031 a0001c0002t0003g0135 a0001c0002t0003g0175	4	336	0.0119	15	c.227 others(32): Show c.2276+471_2276+472insAAAAAAAAAAAAAAG	ADAM11	ENSG00000073670.14	transcript	ENST00000200557.11	protein_coding	25/26			chr17	TogoVar
ADAM12_chr10_126007391_126393477	126086674	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0033 a0002c0011t0033	a0002c0011t0033g0222 a0002c0011t0033g0222	1	252	0.0040	15	c.114 others(34): Show c.1145+7310_1145+7311insATATATATATATATA	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126086680	A A	AAAAAAAA others(8): Show AAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0217 a0001c0002t0001g0217	1	252	0.0040	15	c.114 others(34): Show c.1145+7304_1145+7305insATATATATTTTTTTT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar

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