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
ARRDC1_chr9_137600686_137620360	137601259	A A	ATATATAT others(7): Show ATATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	338	0.0030	14	c.-44 others(25): Show c.-4459_-4458insTATATATATATATT	ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding		4426		chr9	TogoVar
ARRDC1_chr9_137600686_137620360	137601259	A A	ATATATAT others(7): Show ATATATATATTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp1 NA19064.hp1 NA18939.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0001 a0001c0001t0001g0020	2	338	0.0059	14	c.-44 others(25): Show c.-4459_-4458insTATATATATTTTTT	ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding		4426		chr9	TogoVar
ARRDC1_chr9_137600686_137620360	137601259	A A	ATATATAT others(7): Show ATATATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	338	0.0030	14	c.-44 others(25): Show c.-4459_-4458insTATATATTTTTTTT	ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding		4426		chr9	TogoVar
ARRDC1_chr9_137600686_137620360	137601259	A A	ATATATTT others(7): Show ATATATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	338	0.0030	14	c.-44 others(25): Show c.-4459_-4458insTATATTTTTTTTTT	ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding		4426		chr9	TogoVar
ARRDC1_chr9_137600686_137620360	137601259	A A	ATATTTTT others(7): Show ATATTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	338	0.0030	14	c.-44 others(25): Show c.-4459_-4458insTATTTTTTTTTTTT	ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding		4426		chr9	TogoVar
ARRDC2_chr19_18003170_18019102	18003287	G G	GACAGGGT others(7): Show GACAGGGTCTTACTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0003 a0002c0002t0003g0003	1	414	0.0024	14	c.-50 others(25): Show c.-5024_-5023insACAGGGTCTTACTC	ARRDC2	ENSG00000105643.11	transcript	ENST00000222250.5	protein_coding		4882		chr19	TogoVar
ARRDC5_chr19_4885437_4907896	4886696	C C	CTCTCTAT others(7): Show CTCTCTATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 NA18962.hp2 NA18983.hp2 others(2): Show HG02056.hp2 NA18962.hp2 NA18983.hp2 NA18989.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0107 a0001c0001t0001g0129 others(2): Show a0001c0001t0001g0091 a0001c0001t0001g0107 a0001c0001t0001g0129 a0001c0001t0001g0148 a0001c0001t0001g0229	5	412	0.0121	14	c.43 others(25): Show c.4349_*4350insTATATATATAGAGA	ARRDC5	ENSG00000205784.4	transcript	ENST00000650722.2	protein_coding		3740		chr19	TogoVar
ARRDC5_chr19_4885437_4907896	4886696	C C	CTCTCTCT others(7): Show CTCTCTCTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0324	1	412	0.0024	14	c.43 others(25): Show c.4349_*4350insTATATATAGAGAGA	ARRDC5	ENSG00000205784.4	transcript	ENST00000650722.2	protein_coding		3740		chr19	TogoVar
ARRDC5_chr19_4885437_4907896	4886696	C C	CTCTCTCT others(7): Show CTCTCTCTCTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG02129.hp1 HG00558.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0155 a0001c0001t0001g0130 a0001c0001t0001g0155	2	412	0.0049	14	c.43 others(25): Show c.4349_*4350insTATATAGAGAGAGA	ARRDC5	ENSG00000205784.4	transcript	ENST00000650722.2	protein_coding		3740		chr19	TogoVar
ARRDC5_chr19_4885437_4907896	4886696	C C	CTCTCTCT others(7): Show CTCTCTCTCTCTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 NA18991.hp2 HG00597.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0119 a0001c0001t0001g0082 a0001c0001t0001g0119	2	412	0.0049	14	c.43 others(25): Show c.4349_*4350insTATAGAGAGAGAGA	ARRDC5	ENSG00000205784.4	transcript	ENST00000650722.2	protein_coding		3740		chr19	TogoVar
ARRDC5_chr19_4885437_4907896	4886710	A A	ATATATAT others(7): Show ATATATATTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01891.hp1 NA18951.hp2 HG01261.hp2 HG01891.hp1 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0101 a0001c0001t0001g0112 a0001c0002t0001g0373 a0001c0001t0001g0101 a0001c0001t0001g0112 a0001c0002t0001g0373	3	412	0.0073	14	c.43 others(25): Show c.4335_*4336insAAAAAAAATATATA	ARRDC5	ENSG00000205784.4	transcript	ENST00000650722.2	protein_coding		3726		chr19	TogoVar
ARRDC5_chr19_4885437_4907896	4894510	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01261.hp1 HG02735.hp2 others(5): Show HG01123.hp1 HG01261.hp1 HG02735.hp2 HG02970.hp2 HG03017.hp2 HG03486.hp2 HG03927.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0008t0002 a0001c0001t0001 a0001c0001t0002 a0001c0008t0002	a0001c0001t0001g0073 a0001c0001t0001g0277 a0001c0001t0001g0292 others(5): Show a0001c0001t0001g0073 a0001c0001t0001g0277 a0001c0001t0001g0292 a0001c0001t0001g0346 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0002g0037 a0001c0008t0002g0016	8	412	0.0194	14	c.459 others(31): Show c.459+2147_459+2160dupTTTTTTTTTTTTTT	ARRDC5	ENSG00000205784.4	transcript	ENST00000650722.2	protein_coding	2/2			chr19	TogoVar
ARRDC5_chr19_4885437_4907896	4903019	C C	CTCACTGG others(7): Show CTCACTGGTTCTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00642.hp2 others(48): Show HG00140.hp2 HG00280.hp2 HG00642.hp2 HG00733.hp1 HG00741.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG02004.hp2 HG02055.hp1 HG02109.hp1 HG02300.hp2 HG02486.hp2 HG02647.hp1 HG02922.hp2 HG03017.hp1 HG03239.hp1 HG03486.hp2 HG03490.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp2 NA18522.hp1 NA18957.hp2 NA18962.hp1 NA18987.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0008t0002 a0002c0003t0001	a0001c0001t0001g0029 a0001c0001t0001g0076 a0001c0001t0001g0111 others(48): Show a0001c0001t0001g0029 a0001c0001t0001g0076 a0001c0001t0001g0111 a0001c0001t0001g0143 a0001c0001t0001g0255 a0001c0001t0001g0351 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0002t0001g0373 a0001c0002t0001g0391 a0001c0002t0001g0392 a0001c0002t0001g0393 a0001c0002t0002g0015 a0001c0002t0002g0361 a0001c0002t0002g0362 a0001c0002t0002g0363 a0001c0002t0002g0364 a0001c0002t0002g0365 a0001c0002t0002g0366 a0001c0002t0002g0367 a0001c0002t0002g0368 a0001c0002t0002g0369 a0001c0002t0002g0370 a0001c0002t0002g0371 a0001c0002t0002g0372 a0001c0002t0002g0374 a0001c0002t0002g0375 a0001c0002t0002g0376 a0001c0002t0002g0377 a0001c0002t0002g0378 a0001c0002t0002g0379 a0001c0002t0002g0380 a0001c0002t0002g0381 a0001c0002t0002g0382 a0001c0002t0002g0383 a0001c0002t0002g0384 a0001c0002t0002g0385 a0001c0002t0002g0386 a0001c0002t0002g0387 a0001c0002t0002g0388 a0001c0002t0002g0389 a0001c0002t0002g0390 a0001c0008t0002g0016 a0002c0003t0001g0017 a0002c0003t0001g0018 a0002c0003t0001g0019 a0002c0003t0001g0020 a0002c0003t0001g0021 a0002c0003t0001g0022	51	412	0.1238	14	c.-19 others(23): Show c.-195_-194insAAAAGAACCAGTGA	ARRDC5	ENSG00000205784.4	transcript	ENST00000650722.2	protein_coding		124		chr19	TogoVar
ARSB_chr5_78772209_78990310	78972516	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02040.hp2 HG02055.hp2 others(5): Show HG00741.hp1 HG02040.hp2 HG02055.hp2 HG02145.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0015 a0001c0001 a0001c0003 a0001c0015	a0001c0001t0043 a0001c0001t0044 a0001c0003t0006 others(3): Show a0001c0001t0043 a0001c0001t0044 a0001c0003t0006 a0001c0003t0007 a0001c0003t0009 a0001c0015t0027	a0001c0001t0043g0090 a0001c0001t0044g0091 a0001c0003t0006g0103 others(5): Show a0001c0001t0043g0090 a0001c0001t0044g0091 a0001c0003t0006g0103 a0001c0003t0006g0267 a0001c0003t0007g0011 a0001c0003t0007g0012 a0001c0003t0009g0281 a0001c0015t0027g0102	8	360	0.0222	14	c.313 others(31): Show c.313-3338_313-3325dupGTGTGTGTGTGTGT	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	1/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78980725	A A	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02895.hp1 HG03516.hp1 others(1): Show HG02647.hp2 HG02895.hp1 HG03516.hp1 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0006 a0001c0003t0061 a0001c0003t0002 a0001c0003t0006 a0001c0003t0061	a0001c0003t0002g0101 a0001c0003t0002g0253 a0001c0003t0006g0254 others(1): Show a0001c0003t0002g0101 a0001c0003t0002g0253 a0001c0003t0006g0254 a0001c0003t0061g0252	4	360	0.0111	14	c.312 others(31): Show c.312+4211_312+4212insACACACACACACAC	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	1/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78980744	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG01258.hp1 others(14): Show HG00408.hp2 HG00438.hp2 HG01258.hp1 HG01978.hp2 HG02040.hp2 HG02280.hp2 HG02818.hp2 HG02922.hp1 HG03195.hp1 NA18943.hp2 NA18952.hp2 NA18959.hp1 NA18978.hp2 NA18983.hp2 NA18985.hp1 NA19066.hp1 NA19077.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0007 others(2): Show a0001c0001 a0001c0003 a0001c0007 a0002c0002 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0021 a0001c0003t0009 a0001c0003t0016 a0001c0003t0018 a0001c0007t0036 a0002c0002t0001 a0002c0002t0026 a0004c0006t0024	a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0002g0104 others(14): Show a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0002g0104 a0001c0001t0005g0171 a0001c0001t0005g0172 a0001c0001t0008g0279 a0001c0001t0011g0105 a0001c0001t0013g0170 a0001c0001t0021g0173 a0001c0001t0021g0174 a0001c0003t0009g0281 a0001c0003t0016g0258 a0001c0003t0018g0260 a0001c0007t0036g0259 a0002c0002t0001g0298 a0002c0002t0026g0176 a0004c0006t0024g0175	17	360	0.0472	14	c.312 others(31): Show c.312+4192_312+4193insTACACACACACACA	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	1/7			chr5	TogoVar
ARSF_chrX_3036471_3117727	3037160	A A	AATATTAT others(7): Show AATATTATATAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02622.hp2 HG02896.hp2 others(1): Show HG01109.hp1 HG02622.hp2 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 others(1): Show a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187	4	193	0.0207	14	c.-45 others(25): Show c.-4532_-4531insATATTATATAAAAT	ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding		4310		chrX	TogoVar
ARSF_chrX_3036471_3117727	3055342	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02622.hp1 HG02895.hp1 others(1): Show HG01071.hp2 HG02622.hp1 HG02895.hp1 HG02897.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0033 a0001c0001t0001g0034 a0002c0004t0001g0087 others(1): Show a0001c0001t0001g0033 a0001c0001t0001g0034 a0002c0004t0001g0087 a0002c0004t0001g0181	4	193	0.0207	14	c.-28 others(33): Show c.-28-12721_-28-12708dupAAAAAAAAAAAAAA	ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARSG_chr17_68286495_68425814	68366677	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0174 a0001c0003t0001g0174	1	304	0.0033	14	c.705 others(31): Show c.705-1855_705-1842dupGTGTGTGTGTGTGT	ARSG	ENSG00000141337.13	transcript	ENST00000621439.5	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
ARSG_chr17_68286495_68425814	68379421	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02976.hp2 HG01884.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0176 a0001c0001t0001g0037 a0001c0001t0001g0176	2	304	0.0066	14	c.983 others(31): Show c.983-5627_983-5614dupTTTTTTTTTTTTTT	ARSG	ENSG00000141337.13	transcript	ENST00000621439.5	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
ARSG_chr17_68286495_68425814	68393867	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03130.hp2 HG02896.hp2 HG03130.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0003 a0001c0003t0001 a0001c0003t0003	a0001c0003t0001g0138 a0001c0003t0003g0253 a0001c0003t0001g0138 a0001c0003t0003g0253	2	304	0.0066	14	c.109 others(33): Show c.1092-1205_1092-1192dupAAAAAAAAAAAAAA	ARSG	ENSG00000141337.13	transcript	ENST00000621439.5	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
ARSH_chrX_3001546_3039111	3037160	A A	AATATTAT others(7): Show AATATTATATAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02622.hp2 HG02897.hp2 HG01109.hp1 HG02622.hp2 HG02897.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0005	a0004c0005t0005g0012 a0004c0005t0005g0214 a0004c0005t0005g0012 a0004c0005t0005g0214	3	248	0.0121	14	c.37 others(25): Show c.3775_*3776insATATTATATAAAAT	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding		3050		chrX	TogoVar
ART4_chr12_14820569_14848526	14824817	T T	TACACACA others(7): Show TACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG03017.hp2 HG02738.hp2 HG03017.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0082 a0002c0002t0004g0107 a0002c0002t0004g0082 a0002c0002t0004g0107	2	380	0.0053	14	c.45 others(25): Show c.4540_*4553dupGTGTGTGTGTGTGT	ART4	ENSG00000111339.12	transcript	ENST00000228936.6	protein_coding		751		chr12	TogoVar
ART4_chr12_14820569_14848526	14830119	A A	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01074.hp1 HG01978.hp2 others(3): Show HG01070.hp1 HG01074.hp1 HG01978.hp2 HG01993.hp1 HG02293.hp2 NA18981.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0004 a0002c0002t0028 a0001c0001t0004 a0002c0002t0004 a0002c0002t0028	a0001c0001t0004g0231 a0002c0002t0004g0080 a0002c0002t0004g0085 others(3): Show a0001c0001t0004g0231 a0002c0002t0004g0080 a0002c0002t0004g0085 a0002c0002t0004g0091 a0002c0002t0004g0100 a0002c0002t0028g0081	6	380	0.0158	14	c.854 others(29): Show c.854-671_854-658dupACACACACACACAC	ART4	ENSG00000111339.12	transcript	ENST00000228936.6	protein_coding	2/2			chr12	TogoVar
ART4_chr12_14820569_14848526	14830649	G G	GTATATAT others(7): Show GTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0069 a0002c0002t0002g0069	1	380	0.0026	14	c.854 others(31): Show c.854-1201_854-1188dupTATATATATATATA	ART4	ENSG00000111339.12	transcript	ENST00000228936.6	protein_coding	2/2			chr12	TogoVar
ARV1_chr1_230974094_231005733	230983418	A A	AAAAAAAA others(7): Show AAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	402	0.0025	14	c.174 others(31): Show c.174+4150_174+4151insAATAAAAAAAAAAA	ARV1	ENSG00000173409.14	transcript	ENST00000310256.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
ARV1_chr1_230974094_231005733	230984355	T T	TGTGTGTG others(7): Show TGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	402	0.0025	14	c.175 others(31): Show c.175-3958_175-3957insTGTGTGCGTGTGTG	ARV1	ENSG00000173409.14	transcript	ENST00000310256.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
ARV1_chr1_230974094_231005733	230984357	T T	TGTGTGTG others(7): Show TGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01168.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0128 a0001c0001t0001g0129	2	402	0.0050	14	c.175 others(31): Show c.175-3958_175-3957insTGTGTGTGCGTGTG	ARV1	ENSG00000173409.14	transcript	ENST00000310256.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
ARV1_chr1_230974094_231005733	230984359	T T	TGTGTGTG others(7): Show TGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	402	0.0025	14	c.175 others(31): Show c.175-3958_175-3957insTGTGTGTGCGCGTG	ARV1	ENSG00000173409.14	transcript	ENST00000310256.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
ARV1_chr1_230974094_231005733	230984359	T T	TGTGTGTG others(7): Show TGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	402	0.0025	14	c.175 others(31): Show c.175-3958_175-3957insTGTGTGTGTGCGTG	ARV1	ENSG00000173409.14	transcript	ENST00000310256.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
ARV1_chr1_230974094_231005733	230984361	T T	TGTGTGTG others(7): Show TGTGTGTGCGCGTGC	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18950.hp2 NA21309.hp1 HG00438.hp1 NA18950.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232	3	402	0.0075	14	c.175 others(31): Show c.175-3958_175-3957insTGTGTGCGCGTGCG	ARV1	ENSG00000173409.14	transcript	ENST00000310256.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
ARV1_chr1_230974094_231005733	230984365	T T	TGTGTGTG others(7): Show TGTGTGTGCGCGTGC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03942.hp2 HG03831.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0201 a0001c0001t0001g0202	2	402	0.0050	14	c.175 others(31): Show c.175-3948_175-3947insCGCGTGCGTGTGTG	ARV1	ENSG00000173409.14	transcript	ENST00000310256.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
ARV1_chr1_230974094_231005733	230986668	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03492.hp2 NA19087.hp2 HG03492.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0183 a0001c0001t0001g0162 a0001c0001t0001g0183	2	402	0.0050	14	c.175 others(31): Show c.175-1627_175-1614dupTTTTTTTTTTTTTT	ARV1	ENSG00000173409.14	transcript	ENST00000310256.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
ARX_chrX_24998694_25020965	25018639	T T	TTATATAT others(7): Show TTATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00733.hp1 others(11): Show HG00323.hp1 HG00408.hp1 HG00733.hp1 HG02109.hp2 HG02148.hp1 HG02976.hp1 HG03471.hp1 NA18973.hp1 NA18980.hp1 NA18990.hp1 NA18994.hp1 NA18995.hp1 NA19002.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0011 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0039 a0001c0001t0002g0002 a0001c0001t0002g0009	14	300	0.0467	14	c.-29 others(25): Show c.-2903_-2902insTATATATATATATA	ARX	ENSG00000004848.8	transcript	ENST00000379044.5	protein_coding		2675		chrX	TogoVar
ARX_chrX_24998694_25020965	25018662	T T	TATATATA others(7): Show TATATATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02257.hp2 HG02897.hp2 others(2): Show HG01243.hp1 HG02257.hp2 HG02897.hp2 HG02976.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0001t0001 a0001c0001t0002 a0001c0001t0016	a0001c0001t0001g0089 a0001c0001t0002g0009 a0001c0001t0016g0099 a0001c0001t0001g0089 a0001c0001t0002g0009 a0001c0001t0016g0099	5	300	0.0167	14	c.-29 others(25): Show c.-2926_-2925insTTATATATATATAT	ARX	ENSG00000004848.8	transcript	ENST00000379044.5	protein_coding		2698		chrX	TogoVar
AR_chrX_67539021_67735619	67562376	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0025 a0025	a0025c0049 a0025c0049	a0025c0049t0052 a0025c0049t0052	a0025c0049t0052g0009 a0025c0049t0052g0009	1	193	0.0052	14	c.161 others(35): Show c.1616+15627_1616+15628insCTGTGTGTGTGTGT	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67604198	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02809.hp2 HG02818.hp2 others(1): Show HG01891.hp2 HG02809.hp2 HG02818.hp2 HG02976.hp1	a0009 a0015 a0057 a0009 a0015 a0057	a0009c0013 a0015c0010 a0057c0062 a0009c0013 a0015c0010 a0057c0062	a0009c0013t0020 a0015c0010t0004 a0057c0062t0010 a0009c0013t0020 a0015c0010t0004 a0057c0062t0010	a0009c0013t0020g0173 a0009c0013t0020g0174 a0015c0010t0004g0175 others(1): Show a0009c0013t0020g0173 a0009c0013t0020g0174 a0015c0010t0004g0175 a0057c0062t0010g0185	4	193	0.0207	14	c.161 others(35): Show c.1617-39024_1617-39011dupGTGTGTGTGTGTGT	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67723312	C C	CTCTGTGT others(7): Show CTCTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp1 HG01109.hp1 others(6): Show HG00099.hp1 HG00642.hp1 HG01109.hp1 HG02615.hp2 HG02630.hp2 HG02895.hp1 HG03834.hp2 NA19043.hp1 NA20300.hp2	a0001 a0008 a0011 others(6): Show a0001 a0008 a0011 a0013 a0016 a0036 a0037 a0064 a0071	a0001c0001 a0008c0005 a0011c0008 others(6): Show a0001c0001 a0008c0005 a0011c0008 a0013c0012 a0016c0024 a0036c0036 a0037c0037 a0064c0074 a0071c0054	a0001c0001t0025 a0008c0005t0006 a0011c0008t0010 others(6): Show a0001c0001t0025 a0008c0005t0006 a0011c0008t0010 a0013c0012t0006 a0016c0024t0010 a0036c0036t0004 a0037c0037t0006 a0064c0074t0032 a0071c0054t0018	a0001c0001t0025g0166 a0008c0005t0006g0118 a0011c0008t0010g0120 others(6): Show a0001c0001t0025g0166 a0008c0005t0006g0118 a0011c0008t0010g0120 a0013c0012t0006g0128 a0016c0024t0010g0115 a0036c0036t0004g0112 a0037c0037t0006g0178 a0064c0074t0032g0180 a0071c0054t0018g0153	9	193	0.0466	14	c.260 others(31): Show c.2607+329_2607+330insCTGTGTGTGTGTGT	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67728574	A A	AATATATA others(7): Show AATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00738.hp1 HG01928.hp1 HG03130.hp1 others(4): Show HG00738.hp1 HG01928.hp1 HG03130.hp1 HG03654.hp1 HG03834.hp1 HG04199.hp1 NA20752.hp1	a0002 a0003 a0004 others(4): Show a0002 a0003 a0004 a0007 a0010 a0013 a0052	a0002c0002 a0003c0004 a0004c0003 others(4): Show a0002c0002 a0003c0004 a0004c0003 a0007c0006 a0010c0014 a0013c0012 a0052c0059	a0002c0002t0016 a0003c0004t0036 a0004c0003t0016 others(4): Show a0002c0002t0016 a0003c0004t0036 a0004c0003t0016 a0007c0006t0059 a0010c0014t0016 a0013c0012t0048 a0052c0059t0029	a0002c0002t0016g0005 a0003c0004t0036g0170 a0004c0003t0016g0037 others(4): Show a0002c0002t0016g0005 a0003c0004t0036g0170 a0004c0003t0016g0037 a0007c0006t0059g0069 a0010c0014t0016g0016 a0013c0012t0048g0131 a0052c0059t0029g0134	7	193	0.0363	14	c.47 others(25): Show c.4761_*4774dupTATATATATATATA	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	8/8	4775	INFO_REALIGN_3_PRIME	chrX	TogoVar
AS3MT_chr10_102864470_102906899	102906274	A A	AATATATA others(7): Show AATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01433.hp2 NA18963.hp2 HG01123.hp2 HG01433.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0002 a0001c0001t0008 a0001c0008t0003 a0001c0001t0002 a0001c0001t0008 a0001c0008t0003	a0001c0001t0002g0113 a0001c0001t0008g0051 a0001c0008t0003g0073 a0001c0001t0002g0113 a0001c0001t0008g0051 a0001c0008t0003g0073	3	362	0.0083	14	c.55 others(25): Show c.5574_*5575insATATATATATATAT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding		4376		chr10	TogoVar
AS3MT_chr10_102864470_102906899	102906276	A A	AAAAAAAA others(7): Show AAAAAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0130 a0001c0001t0007g0130	1	362	0.0028	14	c.55 others(25): Show c.5576_*5577insAAAAAAATATATAT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding		4378		chr10	TogoVar
AS3MT_chr10_102864470_102906899	102906276	A A	AAAATATA others(7): Show AAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 NA19030.hp1 HG00639.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0003 a0001c0006t0006 a0001c0001t0003 a0001c0006t0006	a0001c0001t0003g0001 a0001c0006t0006g0176 a0001c0001t0003g0001 a0001c0006t0006g0176	2	362	0.0055	14	c.55 others(25): Show c.5576_*5577insAAATATATATATAT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding		4378		chr10	TogoVar
AS3MT_chr10_102864470_102906899	102906276	A A	AAATTATA others(7): Show AAATTATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0161	1	362	0.0028	14	c.55 others(25): Show c.5576_*5577insAATTATATATATAT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding		4378		chr10	TogoVar
AS3MT_chr10_102864470_102906899	102906276	A A	AATATATA others(7): Show AATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01496.hp1 others(5): Show HG01257.hp2 HG01258.hp1 HG01496.hp1 HG02486.hp2 HG02922.hp2 HG04228.hp1 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006	a0001c0001t0002g0139 a0001c0001t0003g0001 a0001c0001t0003g0004 others(5): Show a0001c0001t0002g0139 a0001c0001t0003g0001 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0071 a0001c0001t0003g0077 a0001c0001t0003g0081 a0001c0001t0006g0015	8	362	0.0221	14	c.55 others(25): Show c.5576_*5577insATATATATATATAT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding		4378		chr10	TogoVar
ASAH1_chr8_18050992_18089107	18075001	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01167.hp1 HG01169.hp1 others(31): Show HG00323.hp2 HG01167.hp1 HG01169.hp1 HG01257.hp2 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01884.hp2 HG01952.hp1 HG02083.hp1 HG02257.hp1 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02615.hp1 HG02630.hp1 HG03041.hp2 HG03195.hp1 HG03225.hp1 HG03540.hp1 HG04115.hp1 HG04204.hp1 HG06807.hp1 NA18612.hp1 NA18945.hp2 NA18972.hp1 NA18995.hp1 NA18999.hp1 NA19004.hp2 NA19043.hp1 NA19054.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022	a0001c0001t0001g0072 a0001c0001t0004g0010 a0001c0001t0004g0011 others(24): Show a0001c0001t0001g0072 a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0029 a0001c0001t0004g0069 a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0081 a0001c0001t0004g0083 a0001c0001t0004g0084 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0007g0058 a0001c0001t0007g0064 a0001c0001t0007g0073 a0001c0001t0007g0074 a0001c0001t0007g0075 a0001c0001t0007g0077 a0001c0001t0007g0078 a0001c0001t0007g0228 a0001c0001t0007g0229 a0001c0001t0007g0260 a0001c0001t0020g0076 a0001c0001t0021g0057 a0001c0001t0022g0082	34	420	0.0810	14	c.125 others(29): Show c.125+539_125+540insAAAAAAAAAAAAAA	ASAH1	ENSG00000104763.20	transcript	ENST00000637790.2	protein_coding	2/13			chr8	TogoVar
ASAH2_chr10_50179861_50256516	50203577	A A	AATCCTAT others(7): Show AATCCTATGGTGAAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(115): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01517.hp2 HG01891.hp1 HG01934.hp1 HG01952.hp1 HG01993.hp2 HG02056.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02165.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02615.hp1 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG03130.hp2 HG03491.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18941.hp2 NA18942.hp2 NA18948.hp2 NA18950.hp2 NA18952.hp2 NA18957.hp2 NA18960.hp1 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18973.hp1 NA18974.hp2 NA18978.hp1 NA18980.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18988.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18992.hp2 NA18995.hp2 NA18997.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19011.hp2 NA19060.hp2 NA19065.hp1 NA19066.hp2 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19075.hp1 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA19089.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0012	a0001c0004 a0002c0001 a0002c0006 others(3): Show a0001c0004 a0002c0001 a0002c0006 a0003c0003 a0003c0008 a0012c0014	a0001c0004t0012 a0002c0001t0007 a0002c0001t0111 others(32): Show a0001c0004t0012 a0002c0001t0007 a0002c0001t0111 a0002c0001t0112 a0002c0001t0113 a0002c0001t0115 a0002c0006t0101 a0002c0006t0106 a0002c0006t0114 a0003c0003t0001 a0003c0003t0005 a0003c0003t0014 a0003c0003t0015 a0003c0003t0023 a0003c0003t0024 a0003c0003t0031 a0003c0003t0032 a0003c0003t0039 a0003c0003t0047 a0003c0003t0067 a0003c0003t0070 a0003c0003t0072 a0003c0003t0073 a0003c0003t0075 a0003c0003t0078 a0003c0003t0079 a0003c0003t0081 a0003c0003t0086 a0003c0003t0088 a0003c0003t0089 a0003c0003t0092 a0003c0003t0100 a0003c0008t0001 a0003c0008t0014 a0012c0014t0001	a0001c0004t0012g0001 a0001c0004t0012g0299 a0002c0001t0007g0003 others(99): Show a0001c0004t0012g0001 a0001c0004t0012g0299 a0002c0001t0007g0003 a0002c0001t0007g0038 a0002c0001t0007g0044 a0002c0001t0007g0045 a0002c0001t0007g0047 a0002c0001t0007g0048 a0002c0001t0007g0049 a0002c0001t0007g0051 a0002c0001t0007g0054 a0002c0001t0111g0039 a0002c0001t0112g0043 a0002c0001t0113g0046 a0002c0001t0115g0042 a0002c0006t0101g0273 a0002c0006t0106g0058 a0002c0006t0114g0302 a0003c0003t0001g0002 a0003c0003t0001g0020 a0003c0003t0001g0052 a0003c0003t0001g0119 a0003c0003t0001g0120 a0003c0003t0001g0121 a0003c0003t0001g0124 a0003c0003t0001g0126 a0003c0003t0001g0129 a0003c0003t0001g0130 a0003c0003t0001g0135 a0003c0003t0001g0136 a0003c0003t0001g0137 a0003c0003t0001g0138 a0003c0003t0001g0143 a0003c0003t0001g0144 a0003c0003t0001g0146 a0003c0003t0001g0148 a0003c0003t0001g0152 a0003c0003t0001g0155 a0003c0003t0001g0156 a0003c0003t0001g0158 a0003c0003t0001g0160 a0003c0003t0001g0162 a0003c0003t0001g0164 a0003c0003t0001g0167 a0003c0003t0001g0168 a0003c0003t0001g0169 a0003c0003t0001g0171 a0003c0003t0001g0174 a0003c0003t0001g0186 a0003c0003t0001g0190 a0003c0003t0001g0201 a0003c0003t0001g0210 a0003c0003t0001g0222 a0003c0003t0005g0115 a0003c0003t0005g0147 a0003c0003t0005g0173 a0003c0003t0005g0191 a0003c0003t0005g0196 a0003c0003t0005g0209 a0003c0003t0014g0128 a0003c0003t0014g0151 a0003c0003t0014g0161 a0003c0003t0014g0163 a0003c0003t0014g0170 a0003c0003t0015g0022 a0003c0003t0015g0131 a0003c0003t0015g0134 a0003c0003t0015g0192 a0003c0003t0015g0197 a0003c0003t0015g0198 a0003c0003t0023g0140 a0003c0003t0023g0142 a0003c0003t0023g0159 a0003c0003t0023g0166 a0003c0003t0024g0122 a0003c0003t0024g0145 a0003c0003t0024g0154 a0003c0003t0024g0165 a0003c0003t0024g0181 a0003c0003t0031g0021 a0003c0003t0031g0199 a0003c0003t0032g0019 a0003c0003t0032g0125 a0003c0003t0039g0149 a0003c0003t0047g0150 a0003c0003t0067g0189 a0003c0003t0070g0127 a0003c0003t0072g0223 a0003c0003t0073g0141 a0003c0003t0075g0176 a0003c0003t0078g0187 a0003c0003t0079g0157 a0003c0003t0081g0139 a0003c0003t0086g0188 a0003c0003t0088g0177 a0003c0003t0089g0153 a0003c0003t0092g0117 a0003c0003t0100g0172 a0003c0008t0001g0013 a0003c0008t0001g0075 a0003c0008t0014g0286 a0012c0014t0001g0118	118	408	0.2892	14	c.166 others(29): Show c.1665+62_1665+63insCTTCACCATAGGAT	ASAH2	ENSG00000188611.17	transcript	ENST00000682911.1	protein_coding	15/20			chr10	TogoVar
ASAH2_chr10_50179861_50256516	50206537	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02145.hp2 HG02258.hp1 others(4): Show HG01256.hp1 HG02145.hp2 HG02258.hp1 HG02896.hp2 HG02897.hp2 HG03139.hp1 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0001 a0002c0022 a0001c0007 a0002c0001 a0002c0022	a0001c0007t0038 a0002c0001t0007 a0002c0022t0040 a0001c0007t0038 a0002c0001t0007 a0002c0022t0040	a0001c0007t0038g0358 a0002c0001t0007g0003 a0002c0001t0007g0048 others(2): Show a0001c0007t0038g0358 a0002c0001t0007g0003 a0002c0001t0007g0048 a0002c0001t0007g0054 a0002c0022t0040g0132	7	408	0.0172	14	c.141 others(31): Show c.1415-454_1415-441dupGTGTGTGTGTGTGT	ASAH2	ENSG00000188611.17	transcript	ENST00000682911.1	protein_coding	12/20			chr10	TogoVar
ASAH2_chr10_50179861_50256516	50212182	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03471.hp1 HG03704.hp2 others(2): Show HG03239.hp2 HG03471.hp1 HG03704.hp2 HG03942.hp2 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0010 a0001c0002 a0001c0010	a0001c0002t0006 a0001c0002t0051 a0001c0002t0091 others(2): Show a0001c0002t0006 a0001c0002t0051 a0001c0002t0091 a0001c0002t0096 a0001c0010t0069	a0001c0002t0006g0079 a0001c0002t0051g0112 a0001c0002t0091g0111 others(2): Show a0001c0002t0006g0079 a0001c0002t0051g0112 a0001c0002t0091g0111 a0001c0002t0096g0074 a0001c0010t0069g0200	5	408	0.0123	14	c.122 others(31): Show c.1227+776_1227+789dupGTGTGTGTGTGTGT	ASAH2	ENSG00000188611.17	transcript	ENST00000682911.1	protein_coding	10/20			chr10	TogoVar
ASAP1_chr8_130047104_130448674	130071007	G G	GGAGAGAG others(7): Show GGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	308	0.0033	14	c.270 others(33): Show c.2701+5340_2701+5341insTCTCTCTCTCTCTC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130071009	G G	GGAGAGAG others(7): Show GGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02559.hp1 HG02622.hp1 others(1): Show HG01891.hp1 HG02559.hp1 HG02622.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(1): Show a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0008g0040	4	308	0.0130	14	c.270 others(33): Show c.2701+5338_2701+5339insTCTCTCTCTCTCTC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar

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