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	38735737	CGGGGGTT others(3): Show CGGGGGTTCTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0167	1	314	0.0032	-10	c.63 others(21): Show c.6306_*6315delGGGGGTTCTG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4149		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735757	CGGGGGTT others(3): Show CGGGGGTTCTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	314	0.0032	-10	c.63 others(21): Show c.6326_*6335delGGGGGTTCTG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4169		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735827	CGGGGGTT others(3): Show CGGGGGTTCTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01243.hp2 HG02559.hp2 HG00140.hp2 HG01243.hp2 HG02559.hp2	a0001 a0001	a0001c0005 a0001c0010 a0001c0005 a0001c0010	a0001c0005t0018 a0001c0010t0001 a0001c0005t0018 a0001c0010t0001	a0001c0005t0018g0307 a0001c0005t0018g0308 a0001c0010t0001g0292 a0001c0005t0018g0307 a0001c0005t0018g0308 a0001c0010t0001g0292	3	314	0.0096	-10	c.63 others(21): Show c.6396_*6405delGGGGGTTCTG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4239		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735837	GGGGGCGG others(3): Show GGGGGCGGGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG03710.hp2 HG02735.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0198 a0001c0001t0022g0199 a0001c0001t0022g0198 a0001c0001t0022g0199	2	314	0.0064	-10	c.64 others(21): Show c.6406_*6415delGGGGCGGGGC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4249		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735858	GGTGGTTC others(3): Show GGTGGTTCTGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG01981.hp1 HG02809.hp2 others(4): Show HG00544.hp2 HG01981.hp1 HG02809.hp2 HG02965.hp1 HG02970.hp2 HG03139.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0008	a0001c0001t0017 a0001c0002t0001 a0001c0002t0042 others(2): Show a0001c0001t0017 a0001c0002t0001 a0001c0002t0042 a0001c0005t0008 a0002c0008t0011	a0001c0001t0017g0284 a0001c0002t0001g0016 a0001c0002t0042g0290 others(4): Show a0001c0001t0017g0284 a0001c0002t0001g0016 a0001c0002t0042g0290 a0001c0005t0008g0305 a0002c0008t0011g0278 a0002c0008t0011g0279 a0002c0008t0011g0280	7	314	0.0223	-10	c.64 others(21): Show c.6427_*6436delGTGGTTCTGC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4270		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735867	GCGGGCGG others(3): Show GCGGGCGGGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01175.hp1 HG01243.hp2 others(4): Show HG00140.hp2 HG01175.hp1 HG01243.hp2 HG02080.hp1 HG03209.hp2 HG03490.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0002 a0001c0001t0011 a0001c0001t0021 others(3): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0021 a0001c0003t0009 a0001c0005t0018 a0001c0005t0027	a0001c0001t0002g0122 a0001c0001t0011g0281 a0001c0001t0021g0196 others(4): Show a0001c0001t0002g0122 a0001c0001t0011g0281 a0001c0001t0021g0196 a0001c0003t0009g0192 a0001c0005t0018g0307 a0001c0005t0018g0308 a0001c0005t0027g0306	7	314	0.0223	-10	c.64 others(21): Show c.6436_*6445delCGGGCGGGGC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4279		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735868	CGGGCGGG others(3): Show CGGGCGGGGCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01891.hp1 HG02055.hp1 others(22): Show HG00642.hp2 HG01891.hp1 HG02055.hp1 HG02074.hp1 HG02145.hp2 HG02257.hp2 HG02280.hp1 HG02486.hp1 HG02622.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02897.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19240.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0009 a0001c0001 a0001c0002 a0003c0009	a0001c0001t0002 a0001c0001t0014 a0001c0001t0023 others(2): Show a0001c0001t0002 a0001c0001t0014 a0001c0001t0023 a0001c0002t0001 a0003c0009t0002	a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 others(22): Show a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0085 a0001c0001t0002g0096 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0159 a0001c0001t0002g0206 a0001c0001t0002g0209 a0001c0001t0002g0212 a0001c0001t0014g0168 a0001c0001t0014g0169 a0001c0001t0023g0309 a0001c0001t0023g0310 a0001c0002t0001g0068 a0001c0002t0001g0197 a0003c0009t0002g0130 a0003c0009t0002g0208	25	314	0.0796	-10	c.64 others(21): Show c.6437_*6446delGGGCGGGGCG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4280		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735897	CGGGGGTT others(3): Show CGGGGGTTCTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0061 a0001c0002t0001g0061	1	314	0.0032	-10	c.64 others(21): Show c.6466_*6475delGGGGGTTCTG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4309		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735927	CGGGGGTT others(3): Show CGGGGGTTCTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0134 a0001c0010t0001g0134	1	314	0.0032	-10	c.64 others(21): Show c.6496_*6505delGGGGGTTCTG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4339		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735952	CGGGGGTT others(3): Show CGGGGGTTCTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG02451.hp2 HG02723.hp1 others(2): Show HG00735.hp1 HG02451.hp2 HG02723.hp1 HG03471.hp1 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0010 a0001c0002 a0001c0003 a0001c0010	a0001c0002t0007 a0001c0003t0003 a0001c0003t0009 others(1): Show a0001c0002t0007 a0001c0003t0003 a0001c0003t0009 a0001c0010t0001	a0001c0002t0007g0215 a0001c0003t0003g0090 a0001c0003t0003g0188 others(2): Show a0001c0002t0007g0215 a0001c0003t0003g0090 a0001c0003t0003g0188 a0001c0003t0009g0176 a0001c0010t0001g0134	5	314	0.0159	-10	c.65 others(21): Show c.6521_*6530delGGGGGTTCTG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4364		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735973	GGGGCGGG others(3): Show GGGGCGGGGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01243.hp2 HG00140.hp2 HG01243.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0018 a0001c0005t0018	a0001c0005t0018g0307 a0001c0005t0018g0308 a0001c0005t0018g0307 a0001c0005t0018g0308	2	314	0.0064	-10	c.65 others(21): Show c.6542_*6551delGGGCGGGGCA	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4385		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735982	CAGGGGTT others(3): Show CAGGGGTTCTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0040 a0001c0002t0040	a0001c0002t0040g0203 a0001c0002t0040g0203	1	314	0.0032	-10	c.65 others(21): Show c.6551_*6560delAGGGGTTCTG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4394		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38736023	CGGGGGTC others(3): Show CGGGGGTCTCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0071 a0001c0002t0001g0071	1	314	0.0032	-10	c.65 others(21): Show c.6592_*6601delGGGGGTCTCG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4435		chr19	TogoVar
ACTR1B_chr2_97650939_97669044	97665692	ACTCTCTC others(3): Show ACTCTCTCTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG02004.hp1 HG02293.hp1 others(5): Show HG01496.hp2 HG02004.hp1 HG02293.hp1 HG02965.hp1 HG03225.hp2 NA18965.hp2 NA19056.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0036 a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0036	8	398	0.0201	-10	c.-18 others(21): Show c.-1812_-1803delAGAGAGAGAG	ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding		1649		chr2	TogoVar
ACTR1B_chr2_97650939_97669044	97665729	CTCTCTCT others(3): Show CTCTCTCTCTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG02155.hp1 HG02258.hp1 HG01975.hp1 HG02155.hp1 HG02258.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0003 a0001c0001t0001 a0002c0003t0003	a0001c0001t0001g0001 a0001c0001t0001g0045 a0002c0003t0003g0005 a0001c0001t0001g0001 a0001c0001t0001g0045 a0002c0003t0003g0005	3	398	0.0075	-10	c.-18 others(21): Show c.-1849_-1840delTAGAGAGAGA	ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding		1686		chr2	TogoVar
ACTR1B_chr2_97650939_97669044	97665731	CTCTCTCT others(3): Show CTCTCTCTATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG02055.hp1 HG02572.hp1 others(2): Show HG00597.hp1 HG02055.hp1 HG02572.hp1 HG03688.hp2 NA18965.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0004 a0002c0003t0003 a0001c0001t0001 a0001c0002t0004 a0002c0003t0003	a0001c0001t0001g0001 a0001c0002t0004g0003 a0002c0003t0003g0005 a0001c0001t0001g0001 a0001c0002t0004g0003 a0002c0003t0003g0005	5	398	0.0126	-10	c.-18 others(21): Show c.-1851_-1842delTATAGAGAGA	ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding		1688		chr2	TogoVar
ACTR1B_chr2_97650939_97669044	97665733	CTCTCTAT others(3): Show CTCTCTATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 NA18940.hp2 NA18952.hp2 others(3): Show HG01070.hp2 NA18940.hp2 NA18952.hp2 NA18963.hp1 NA19058.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0004	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0049 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0049 a0001c0002t0004g0003	6	398	0.0151	-10	c.-18 others(21): Show c.-1853_-1844delTATATAGAGA	ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding		1690		chr2	TogoVar
ACTR1B_chr2_97650939_97669044	97665735	CTCTATAT others(3): Show CTCTATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 NA18966.hp1 NA18970.hp1 others(1): Show HG01099.hp2 NA18966.hp1 NA18970.hp1 NA19070.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0004 a0002c0003t0003 a0001c0001t0001 a0001c0002t0004 a0002c0003t0003	a0001c0001t0001g0001 a0001c0002t0004g0003 a0002c0003t0003g0005 a0001c0001t0001g0001 a0001c0002t0004g0003 a0002c0003t0003g0005	4	398	0.0101	-10	c.-18 others(21): Show c.-1855_-1846delTATATATAGA	ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding		1692		chr2	TogoVar
ACTR1B_chr2_97650939_97669044	97665737	CTATATAT others(3): Show CTATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 NA18970.hp2 NA19054.hp2 others(1): Show HG02698.hp2 NA18970.hp2 NA19054.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0004 a0002c0003t0003 a0001c0001t0001 a0001c0002t0004 a0002c0003t0003	a0001c0001t0001g0001 a0001c0002t0004g0003 a0002c0003t0003g0013 a0001c0001t0001g0001 a0001c0002t0004g0003 a0002c0003t0003g0013	4	398	0.0101	-10	c.-18 others(21): Show c.-1857_-1848delTATATATATA	ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding		1694		chr2	TogoVar
ACTR3B_chr7_152754752_152860378	152761652	CTTAGAAA others(3): Show CTTAGAAACGG	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA18906.hp2 HG02615.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0181 a0001c0001t0001g0182	2	310	0.0065	-10	c.44+ others(25): Show c.44+1728_44+1737delTAGAAACGGT	ACTR3B	ENSG00000133627.18	transcript	ENST00000256001.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ACTR3B_chr7_152754752_152860378	152785402	GGGGAGAG others(3): Show GGGGAGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02145.hp1 HG02622.hp1 others(2): Show HG01952.hp1 HG02145.hp1 HG02622.hp1 HG03098.hp2 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0298 a0001c0001t0001g0299 others(2): Show a0001c0001t0001g0215 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0304	5	310	0.0161	-10	c.100 others(27): Show c.100+2178_100+2187delGGAGGGAGAG	ACTR3B	ENSG00000133627.18	transcript	ENST00000256001.13	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ACTR3B_chr7_152754752_152860378	152785420	GGAGGGAG others(3): Show GGAGGGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	310	0.0032	-10	c.100 others(27): Show c.100+2184_100+2193delAGAGAGAGGG	ACTR3B	ENSG00000133627.18	transcript	ENST00000256001.13	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ACTR3B_chr7_152754752_152860378	152812019	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01192.hp1 HG01952.hp2 others(13): Show HG01109.hp1 HG01192.hp1 HG01952.hp2 HG02300.hp2 NA18939.hp2 NA18940.hp1 NA18942.hp1 NA18948.hp2 NA18955.hp2 NA18956.hp1 NA18971.hp2 NA18980.hp2 NA19002.hp2 NA19012.hp2 NA19060.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 others(13): Show a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0306 a0001c0001t0006g0185 a0001c0001t0006g0194	16	310	0.0516	-10	c.337 others(27): Show c.337-2511_337-2502delTTTTTTTTTT	ACTR3B	ENSG00000133627.18	transcript	ENST00000256001.13	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ACTR3B_chr7_152754752_152860378	152831359	AGGGCTGT others(3): Show AGGGCTGTGCT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02486.hp1 HG02717.hp2 others(6): Show HG02258.hp2 HG02486.hp1 HG02717.hp2 HG02886.hp2 HG03098.hp1 HG03486.hp2 HG06807.hp1 NA18522.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0272 a0001c0001t0001g0273 others(6): Show a0001c0001t0001g0201 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285	9	310	0.0290	-10	c.951 others(27): Show c.951+6241_951+6250delCTGTGCTGGG	ACTR3B	ENSG00000133627.18	transcript	ENST00000256001.13	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ACTR3_chr2_113885089_113967596	113938410	CTTTATAA others(3): Show CTTTATAAGTA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03195.hp2 NA19030.hp1 HG02723.hp1 HG03195.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0259 a0001c0001t0001g0266 a0001c0001t0001g0245 a0001c0001t0001g0259 a0001c0001t0001g0266	3	390	0.0077	-10	c.541 others(27): Show c.541-1544_541-1535delTAAGTATTTA	ACTR3	ENSG00000115091.12	transcript	ENST00000263238.7	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTR5_chr20_38743460_38777520	38744710	CTTGTTTC others(3): Show CTTGTTTCAAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01433.hp2 HG01952.hp2 others(13): Show HG01175.hp2 HG01433.hp2 HG01952.hp2 HG01981.hp1 HG02055.hp1 HG02083.hp1 HG02165.hp1 HG03516.hp1 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG04115.hp1 HG04199.hp1 HG04228.hp1 NA18968.hp1 NA18995.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0023 a0002c0002t0001g0044 others(2): Show a0002c0002t0001g0001 a0002c0002t0001g0023 a0002c0002t0001g0044 a0002c0002t0001g0100 a0002c0002t0001g0105	16	366	0.0437	-10	c.-37 others(21): Show c.-3768_-3759delTTGTTTCAAG	ACTR5	ENSG00000101442.10	transcript	ENST00000243903.6	protein_coding		3749		chr20	TogoVar
ACTR6_chr12_100195815_100229424	100198756	TACACACA others(3): Show TACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	242	0.0041	-10	c.-20 others(21): Show c.-2095_-2086delACACACACAC	ACTR6	ENSG00000075089.10	transcript	ENST00000188312.7	protein_coding		2058		chr12	TogoVar
ACTRT3_chr3_169761921_169774561	169770318	TTATATAT others(3): Show TTATATATTTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0018 a0008c0008t0001g0018	1	418	0.0024	-10	c.-80 others(19): Show c.-808_-799delTAAATATATA	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		758		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169770410	TATTATAT others(3): Show TATTATATGTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	418	0.0024	-10	c.-90 others(19): Show c.-900_-891delTACATATAAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		850		chr3	TogoVar
ACVR1B_chr12_51946699_52002078	51993765	TAAAAAAA others(3): Show TAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01167.hp1 HG02451.hp2 others(1): Show HG01106.hp2 HG01167.hp1 HG02451.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0015 a0001c0006t0016 a0001c0001t0015 a0001c0006t0016	a0001c0001t0015g0111 a0001c0001t0015g0112 a0001c0001t0015g0288 others(1): Show a0001c0001t0015g0111 a0001c0001t0015g0112 a0001c0001t0015g0288 a0001c0006t0016g0276	4	324	0.0124	-10	c.139 others(27): Show c.1393-190_1393-181delAAAAAAAAAA	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACVR1C_chr2_157521767_157633864	157562459	AAAAATAA others(3): Show AAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp1 HG02886.hp2 others(3): Show HG01884.hp1 HG02145.hp1 HG02886.hp2 NA18522.hp2 NA18906.hp1 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0006 others(1): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0006 a0002c0003t0013	a0001c0001t0001g0154 a0001c0001t0001g0210 a0001c0002t0001g0101 others(3): Show a0001c0001t0001g0154 a0001c0001t0001g0210 a0001c0002t0001g0101 a0002c0003t0006g0092 a0002c0003t0006g0109 a0002c0003t0013g0050	6	216	0.0278	-10	c.305 others(27): Show c.305-6137_305-6128delATTTTATTTT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	2/8			chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157588848	CATATATA others(3): Show CATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02486.hp2 HG02559.hp1 others(2): Show HG02145.hp1 HG02486.hp2 HG02559.hp1 HG02976.hp2 HG03041.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0002c0008 a0001c0002 a0002c0003 a0002c0008	a0001c0002t0024 a0002c0003t0006 a0002c0003t0026 others(2): Show a0001c0002t0024 a0002c0003t0006 a0002c0003t0026 a0002c0008t0002 a0002c0008t0027	a0001c0002t0024g0108 a0002c0003t0006g0109 a0002c0003t0026g0107 others(2): Show a0001c0002t0024g0108 a0002c0003t0006g0109 a0002c0003t0026g0107 a0002c0008t0002g0106 a0002c0008t0027g0105	5	216	0.0232	-10	c.74- others(25): Show c.74-1441_74-1432delATATATATAT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	1/8			chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157629587	TACACACA others(3): Show TACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0094 a0001c0002t0001g0094	1	216	0.0046	-10	c.-95 others(19): Show c.-953_-944delGTGTGTGTGT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding		724		chr2	TogoVar
ACVR1_chr2_157731446_157881330	157755523	AATACCAT others(3): Show AATACCATACC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp2 HG00735.hp1 others(65): Show HG00099.hp2 HG00438.hp2 HG00735.hp1 HG01243.hp2 HG01255.hp1 HG01891.hp1 HG01978.hp1 HG01978.hp2 HG02040.hp1 HG02109.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02559.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18951.hp2 NA18956.hp1 NA18963.hp2 NA18965.hp2 NA18978.hp2 NA18980.hp2 NA18981.hp1 NA19030.hp1 NA19043.hp1 NA19088.hp1 NA19240.hp2 NA20129.hp2 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0014 others(14): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0014 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0011 a0001c0002t0015 a0001c0003t0001 a0001c0003t0004 a0001c0004t0008 a0001c0004t0009 a0001c0004t0021 a0001c0005t0001 a0001c0006t0006	a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(65): Show a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0079 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0137 a0001c0001t0004g0164 a0001c0001t0014g0087 a0001c0002t0001g0028 a0001c0002t0001g0031 a0001c0002t0001g0036 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0066 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0124 a0001c0002t0001g0142 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0003g0015 a0001c0002t0003g0017 a0001c0002t0003g0094 a0001c0002t0003g0095 a0001c0002t0003g0130 a0001c0002t0003g0133 a0001c0002t0003g0135 a0001c0002t0003g0155 a0001c0002t0004g0169 a0001c0002t0004g0170 a0001c0002t0004g0172 a0001c0002t0005g0001 a0001c0002t0005g0006 a0001c0002t0007g0063 a0001c0002t0011g0010 a0001c0002t0015g0096 a0001c0003t0001g0023 a0001c0003t0001g0104 a0001c0003t0004g0167 a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 a0001c0004t0009g0083 a0001c0004t0009g0161 a0001c0004t0009g0162 a0001c0004t0021g0171 a0001c0005t0001g0157 a0001c0006t0006g0022 a0001c0006t0006g0102 a0001c0006t0006g0103 a0001c0006t0006g0121 a0001c0006t0006g0140 a0001c0006t0006g0160	68	174	0.3908	-10	c.126 others(29): Show c.1264+5347_1264+5356delGGTATGGTAT	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	9/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157795377	AACACACA others(3): Show AACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp2 NA18980.hp2 others(1): Show HG02486.hp1 HG02486.hp2 NA18980.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0115 a0001c0002t0001g0029 a0001c0002t0001g0125 others(1): Show a0001c0001t0001g0115 a0001c0002t0001g0029 a0001c0002t0001g0125 a0001c0002t0001g0145	4	174	0.0230	-10	c.67+ others(25): Show c.67+4040_67+4049delGTGTGTGTGT	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	3/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157795419	CACACACA others(3): Show CACACACACAA	C C	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	174	0.0058	-10	c.67+ others(25): Show c.67+3998_67+4007delTTGTGTGTGT	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	3/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157805810	TTTCTTTT others(3): Show TTTCTTTTTTC	T T	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0061 a0001c0002t0002g0061	1	174	0.0058	-10	c.-7- others(25): Show c.-7-6320_-7-6311delGAAAAAAGAA	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	2/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157805813	CTTTTTTC others(3): Show CTTTTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(72): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00735.hp2 HG01074.hp2 HG01168.hp1 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01884.hp1 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02698.hp2 HG03225.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp2 HG03704.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04228.hp2 NA18942.hp1 NA18942.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19088.hp1 NA19088.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0005t0001 a0001c0005t0004 a0001c0005t0005	a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(72): Show a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0079 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0127 a0001c0001t0001g0137 a0001c0001t0002g0013 a0001c0001t0002g0039 a0001c0001t0002g0043 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0060 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0086 a0001c0001t0002g0092 a0001c0001t0002g0097 a0001c0001t0002g0105 a0001c0001t0002g0113 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0141 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0007g0076 a0001c0001t0007g0112 a0001c0001t0012g0011 a0001c0001t0012g0012 a0001c0001t0013g0165 a0001c0001t0013g0166 a0001c0001t0014g0087 a0001c0001t0016g0152 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0142 a0001c0002t0002g0075 a0001c0002t0005g0001 a0001c0005t0001g0064 a0001c0005t0001g0072 a0001c0005t0001g0123 a0001c0005t0004g0174 a0001c0005t0005g0004	75	174	0.4310	-10	c.-7- others(25): Show c.-7-6323_-7-6314delAAAGAAAAAA	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	2/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157826697	GAAGGAAA others(3): Show GAAGGAAAGGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp1 HG03225.hp1 others(4): Show HG01884.hp2 HG02257.hp1 HG03225.hp1 HG03486.hp1 NA18942.hp1 NA18946.hp1 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0005 a0001c0003t0001 a0001c0004t0008	a0001c0001t0001g0114 a0001c0001t0002g0046 a0001c0001t0002g0069 others(4): Show a0001c0001t0001g0114 a0001c0001t0002g0046 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0002t0005g0002 a0001c0003t0001g0139 a0001c0004t0008g0110	7	174	0.0402	-10	c.-18 others(29): Show c.-182-8148_-182-8139delTCCTTTCCTT	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157855269	AGTGTGTG others(3): Show AGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02074.hp2 HG02080.hp1 others(13): Show HG02040.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG03834.hp2 NA18946.hp1 NA18951.hp1 NA18963.hp2 NA19043.hp2 NA19074.hp1 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0001c0002t0017 a0001c0005t0001	a0001c0001t0001g0088 a0001c0001t0001g0108 a0001c0001t0001g0109 others(13): Show a0001c0001t0001g0088 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0002g0113 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0126 a0001c0001t0007g0112 a0001c0002t0001g0125 a0001c0002t0002g0132 a0001c0002t0017g0122 a0001c0005t0001g0123	16	174	0.0920	-10	c.-18 others(31): Show c.-183+20517_-183+20526delACACACACAC	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157855300	GTGTGTGT others(3): Show GTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02622.hp1 HG02647.hp2 others(1): Show HG02145.hp2 HG02622.hp1 HG02647.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0020 a0001c0002t0001g0025 a0001c0002t0001g0026 others(1): Show a0001c0001t0001g0020 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027	4	174	0.0230	-10	c.-18 others(31): Show c.-183+20486_-183+20495delTACACACACA	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157862422	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01243.hp2 HG01978.hp2 others(7): Show HG00099.hp2 HG01243.hp2 HG01978.hp2 HG02055.hp2 HG02258.hp2 HG02698.hp2 HG03130.hp2 HG03486.hp1 HG06807.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0002 a0001c0002t0001 a0001c0002t0011 others(3): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0011 a0001c0003t0001 a0001c0003t0019 a0001c0006t0006	a0001c0001t0002g0141 a0001c0002t0001g0089 a0001c0002t0001g0090 others(7): Show a0001c0001t0002g0141 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0142 a0001c0002t0011g0009 a0001c0002t0011g0010 a0001c0003t0001g0139 a0001c0003t0019g0143 a0001c0006t0006g0140	10	174	0.0575	-10	c.-18 others(31): Show c.-183+13364_-183+13373delGTGTGTGTGT	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157863336	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	174	0.0058	-10	c.-18 others(31): Show c.-183+12450_-183+12459delAAAAAAAAAA	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/10			chr2	TogoVar
ACVR2A_chr2_147840029_147935822	147881633	GTGTGTGT others(3): Show GTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00408.hp2 others(55): Show HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp2 HG00673.hp2 HG00735.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01109.hp2 HG01175.hp2 HG01255.hp2 HG01496.hp2 HG01934.hp2 HG01981.hp1 HG02145.hp2 HG02273.hp1 HG02280.hp2 HG02630.hp1 HG02698.hp2 HG02717.hp1 HG02895.hp2 HG02897.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03688.hp2 HG03704.hp1 HG04115.hp2 HG04184.hp2 NA18522.hp2 NA18942.hp2 NA18944.hp1 NA18960.hp2 NA18962.hp1 NA18975.hp1 NA18978.hp1 NA18980.hp2 NA18991.hp2 NA18994.hp2 NA18999.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp2 NA19056.hp1 NA19057.hp2 NA19060.hp1 NA19066.hp2 NA19077.hp2 NA19079.hp2 NA19081.hp1 NA19088.hp1 NA19088.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0015 others(5): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0015 a0001c0001t0021 a0001c0002t0001 a0001c0002t0006 a0001c0002t0012 a0001c0002t0013	a0001c0001t0002g0009 a0001c0001t0002g0154 a0001c0001t0002g0157 others(53): Show a0001c0001t0002g0009 a0001c0001t0002g0154 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0171 a0001c0001t0002g0175 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0212 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0238 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0282 a0001c0001t0002g0317 a0001c0001t0005g0012 a0001c0001t0005g0015 a0001c0001t0005g0152 a0001c0001t0005g0293 a0001c0001t0015g0211 a0001c0001t0021g0012 a0001c0002t0001g0024 a0001c0002t0001g0052 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0089 a0001c0002t0001g0112 a0001c0002t0006g0021 a0001c0002t0006g0120 a0001c0002t0006g0121 a0001c0002t0012g0007 a0001c0002t0013g0007	58	338	0.1716	-10	c.56- others(27): Show c.56-14658_56-14649delATGTGTGTGT	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACVR2A_chr2_147840029_147935822	147930347	GTTTTTTT others(3): Show GTTTTTTTGTT	G G	3_prime_UTR_variant 3_prime_UTR_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	-10	c.30 others(21): Show c.3081_*3090delGTTTTTTTTT	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding	11/11	3081	INFO_REALIGN_3_PRIME	chr2	TogoVar
ACVR2B_chr3_38448890_38498142	38453467	CTTTCCCA others(3): Show CTTTCCCACGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0169 a0001c0001t0169	a0001c0001t0169g0066 a0001c0001t0169g0066	1	410	0.0024	-10	c.-85 others(19): Show c.-855_-846delTTTCCCACGG	ACVR2B	ENSG00000114739.14	transcript	ENST00000352511.5	protein_coding		422		chr3	TogoVar
ACVR2B_chr3_38448890_38498142	38492731	TACACACA others(3): Show TACACACACAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01192.hp2 HG01255.hp1 HG01496.hp2 others(4): Show HG01192.hp2 HG01255.hp1 HG01496.hp2 HG02040.hp2 HG02602.hp2 HG03654.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0049 a0001c0001t0133 others(1): Show a0001c0001t0028 a0001c0001t0049 a0001c0001t0133 a0001c0001t0153	a0001c0001t0028g0004 a0001c0001t0028g0112 a0001c0001t0049g0005 others(2): Show a0001c0001t0028g0004 a0001c0001t0028g0112 a0001c0001t0049g0005 a0001c0001t0133g0083 a0001c0001t0153g0004	7	410	0.0171	-10	c.94 others(21): Show c.9463_*9472delCACACACACA	ACVR2B	ENSG00000114739.14	transcript	ENST00000352511.5	protein_coding	11/11	9463	INFO_REALIGN_3_PRIME	chr3	TogoVar
ACVR2B_chr3_38448890_38498142	38492795	CACACACA others(3): Show CACACACACAT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp1 HG02735.hp2 NA18747.hp2 others(1): Show HG01109.hp1 HG02735.hp2 NA18747.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0006 a0001c0001t0015g0013 a0001c0001t0015g0071 others(1): Show a0001c0001t0015g0006 a0001c0001t0015g0013 a0001c0001t0015g0071 a0001c0001t0015g0105	4	410	0.0098	-10	c.94 others(21): Show c.9468_*9477delACACATACAC	ACVR2B	ENSG00000114739.14	transcript	ENST00000352511.5	protein_coding	11/11	9468	INFO_REALIGN_3_PRIME	chr3	TogoVar
ACY1_chr3_51978535_51994197	51981894	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02572.hp1 HG03130.hp1 others(1): Show HG02257.hp1 HG02572.hp1 HG03130.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	4	338	0.0118	-10	c.-17 others(21): Show c.-1713_-1704delAAAAAAAAAA	ACY1	ENSG00000243989.9	transcript	ENST00000636358.2	protein_coding		1640		chr3	TogoVar
ACY3_chr11_67637555_67655730	67649649	CGTGTGTA others(3): Show CGTGTGTACAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG01884.hp2 HG01891.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0030 a0002c0002t0004g0030	2	396	0.0051	-10	c.-95 others(25): Show c.-95+924_-95+933delATGTACACAC	ACY3	ENSG00000132744.8	transcript	ENST00000255082.8	protein_coding	1/7			chr11	TogoVar

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