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	status	chr	external
AARD_chr8_116933207_116949487	116940723	T T	C C	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18943.hp2 NA18962.hp2 others(2): Show NA18942.hp2 NA18943.hp2 NA18962.hp2 NA19012.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0010 a0001c0001t0005g0010 a0001c0001t0002g0010 a0001c0001t0005g0010	5	442	0.0113	0	c.325 others(8): Show c.325-1835T>C	AARD	ENSG00000205002.4	transcript	ENST00000378279.4	protein_coding	1/1		chr8	TogoVar
AARD_chr8_116933207_116949487	116940757	A A	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02486.hp2 HG02257.hp2 HG02486.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0014 a0006c0007t0001 a0006c0007t0014	a0006c0007t0001g0039 a0006c0007t0014g0038 a0006c0007t0001g0039 a0006c0007t0014g0038	2	442	0.0045	0	c.325 others(8): Show c.325-1801A>G	AARD	ENSG00000205002.4	transcript	ENST00000378279.4	protein_coding	1/1		chr8	TogoVar
AARD_chr8_116933207_116949487	116941019	C C	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA21309.hp2 HG02965.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	2	442	0.0045	0	c.325 others(8): Show c.325-1539C>T	AARD	ENSG00000205002.4	transcript	ENST00000378279.4	protein_coding	1/1		chr8	TogoVar
AARD_chr8_116933207_116949487	116941032	GTTAA GTTAA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03195.hp2 HG03209.hp2 others(2): Show HG02615.hp1 HG03195.hp2 HG03209.hp2 HG03471.hp1 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0013 a0002c0002t0001g0037 a0002c0002t0001g0013 a0002c0002t0001g0037	5	442	0.0113	-4	c.325 others(21): Show c.325-1507_325-1504delAATT	AARD	ENSG00000205002.4	transcript	ENST00000378279.4	protein_coding	1/1	INFO_REALIGN_3_PRIME	chr8	TogoVar
AARD_chr8_116933207_116949487	116941134	T T	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0014 a0006c0007t0014	a0006c0007t0014g0038 a0006c0007t0014g0038	1	442	0.0023	0	c.325 others(8): Show c.325-1424T>A	AARD	ENSG00000205002.4	transcript	ENST00000378279.4	protein_coding	1/1		chr8	TogoVar
AARD_chr8_116933207_116949487	116941214	T T	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp2 HG02486.hp1 others(3): Show HG01891.hp1 HG02055.hp2 HG02486.hp1 HG02976.hp1 NA19030.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0002c0002t0002	a0001c0001t0001g0023 a0001c0001t0002g0011 a0001c0001t0005g0011 others(1): Show a0001c0001t0001g0023 a0001c0001t0002g0011 a0001c0001t0005g0011 a0002c0002t0002g0011	6	442	0.0136	0	c.325 others(8): Show c.325-1344T>G	AARD	ENSG00000205002.4	transcript	ENST00000378279.4	protein_coding	1/1		chr8	TogoVar
AARD_chr8_116933207_116949487	116941501	G G	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	442	0.0023	0	c.325 others(8): Show c.325-1057G>A	AARD	ENSG00000205002.4	transcript	ENST00000378279.4	protein_coding	1/1		chr8	TogoVar
AARD_chr8_116933207_116949487	116941624	C C	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02040.hp2 HG02132.hp1 others(9): Show HG00423.hp1 HG02040.hp2 HG02132.hp1 HG02922.hp2 HG03579.hp1 HG03579.hp2 NA18946.hp1 NA18981.hp1 NA18984.hp2 NA18988.hp1 NA19056.hp2 NA19066.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0006 a0002c0002t0010 a0003c0003t0001 others(2): Show a0001c0001t0006 a0002c0002t0010 a0003c0003t0001 a0003c0003t0003 a0003c0003t0013	a0001c0001t0006g0016 a0002c0002t0010g0016 a0003c0003t0001g0025 others(2): Show a0001c0001t0006g0016 a0002c0002t0010g0016 a0003c0003t0001g0025 a0003c0003t0003g0008 a0003c0003t0013g0008	12	442	0.0272	0	c.325 others(7): Show c.325-934C>A	AARD	ENSG00000205002.4	transcript	ENST00000378279.4	protein_coding	1/1		chr8	TogoVar
AARD_chr8_116933207_116949487	116941644	T T	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18747.hp1 HG00423.hp2 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0019 a0001c0001t0005g0019 a0001c0001t0002g0019 a0001c0001t0005g0019	2	442	0.0045	0	c.325 others(7): Show c.325-914T>A	AARD	ENSG00000205002.4	transcript	ENST00000378279.4	protein_coding	1/1		chr8	TogoVar
AARD_chr8_116933207_116949487	116941717	T T	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01175.hp2 HG00735.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0017 a0001c0001t0006g0017 a0001c0001t0001g0017 a0001c0001t0006g0017	2	442	0.0045	0	c.325 others(7): Show c.325-841T>G	AARD	ENSG00000205002.4	transcript	ENST00000378279.4	protein_coding	1/1		chr8	TogoVar
AARD_chr8_116933207_116949487	116941805	C C	T T	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG04184.hp2 HG03017.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	2	442	0.0045	0	c.325 others(7): Show c.325-753C>T	AARD	ENSG00000205002.4	transcript	ENST00000378279.4	protein_coding	1/1		chr8	TogoVar
AARD_chr8_116933207_116949487	116941806	G G	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp1 HG01243.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	2	442	0.0045	0	c.325 others(7): Show c.325-752G>A	AARD	ENSG00000205002.4	transcript	ENST00000378279.4	protein_coding	1/1		chr8	TogoVar
AARD_chr8_116933207_116949487	116941836	G G	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0035 a0002c0002t0004g0035	1	442	0.0023	0	c.325 others(7): Show c.325-722G>A	AARD	ENSG00000205002.4	transcript	ENST00000378279.4	protein_coding	1/1		chr8	TogoVar
AARD_chr8_116933207_116949487	116941839	A A	T T	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	442	0.0023	0	c.325 others(7): Show c.325-719A>T	AARD	ENSG00000205002.4	transcript	ENST00000378279.4	protein_coding	1/1		chr8	TogoVar
AARD_chr8_116933207_116949487	116941932	AGATCTTT others(12): Show AGATCTTTTTTTAAACGCAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00423.hp2 others(101): Show HG00099.hp2 HG00280.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01168.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01517.hp1 HG01891.hp1 HG01975.hp2 HG01981.hp2 HG02004.hp1 HG02055.hp2 HG02083.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02273.hp1 HG02300.hp1 HG02486.hp1 HG02523.hp2 HG02683.hp2 HG02698.hp2 HG02738.hp1 HG02976.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 NA18612.hp1 NA18747.hp1 NA18941.hp1 NA18946.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18961.hp1 NA18963.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp2 NA18976.hp2 NA18977.hp1 NA18982.hp2 NA18986.hp2 NA18989.hp2 NA18995.hp2 NA18997.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19010.hp2 NA19012.hp2 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19066.hp2 NA19067.hp1 NA19075.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19083.hp1 NA19087.hp1 NA20300.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 others(4): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0002c0002t0002 a0002c0002t0005 a0002c0002t0011 a0002c0002t0018	a0001c0001t0002g0006 a0001c0001t0002g0011 a0001c0001t0002g0012 others(12): Show a0001c0001t0002g0006 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0019 a0001c0001t0005g0006 a0001c0001t0005g0011 a0001c0001t0005g0019 a0001c0001t0011g0006 a0002c0002t0002g0002 a0002c0002t0002g0011 a0002c0002t0002g0021 a0002c0002t0002g0036 a0002c0002t0005g0002 a0002c0002t0011g0002 a0002c0002t0018g0002	104	442	0.2353	-19	c.325 others(34): Show c.325-623_325-605delTCTTTTTTTAAACGCACGA	AARD	ENSG00000205002.4	transcript	ENST00000378279.4	protein_coding	1/1	INFO_REALIGN_3_PRIME	chr8	TogoVar
AARD_chr8_116933207_116949487	116942040	A A	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp1 HG02257.hp2 HG01243.hp1 HG02055.hp1 HG02257.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0001 a0006c0007t0014 a0001c0001t0001 a0006c0007t0014	a0001c0001t0001g0020 a0006c0007t0014g0038 a0001c0001t0001g0020 a0006c0007t0014g0038	3	442	0.0068	0	c.325 others(7): Show c.325-518A>G	AARD	ENSG00000205002.4	transcript	ENST00000378279.4	protein_coding	1/1		chr8	TogoVar
AARD_chr8_116933207_116949487	116942135	A A	G G	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0036 a0002c0002t0002g0036	1	442	0.0023	0	c.325 others(7): Show c.325-423A>G	AARD	ENSG00000205002.4	transcript	ENST00000378279.4	protein_coding	1/1		chr8	TogoVar
AARD_chr8_116933207_116949487	116942146	A A	T T	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG03654.hp1 HG02135.hp2 HG03654.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0021 a0002c0002t0002g0021	2	442	0.0045	0	c.325 others(7): Show c.325-412A>T	AARD	ENSG00000205002.4	transcript	ENST00000378279.4	protein_coding	1/1		chr8	TogoVar
AARD_chr8_116933207_116949487	116942181	G G	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0034 a0001c0004t0001g0034	1	442	0.0023	0	c.325 others(7): Show c.325-377G>T	AARD	ENSG00000205002.4	transcript	ENST00000378279.4	protein_coding	1/1		chr8	TogoVar
AARD_chr8_116933207_116949487	116942190	TA TA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02818.hp2 HG02886.hp2 others(8): Show HG02145.hp1 HG02818.hp2 HG02886.hp2 HG02965.hp2 HG02970.hp1 HG03098.hp2 HG03130.hp1 NA19030.hp1 NA19043.hp1 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0015 a0001c0004t0001 a0001c0001t0001 a0001c0001t0015 a0001c0004t0001	a0001c0001t0001g0009 a0001c0001t0001g0022 a0001c0001t0015g0027 others(2): Show a0001c0001t0001g0009 a0001c0001t0001g0022 a0001c0001t0015g0027 a0001c0004t0001g0009 a0001c0004t0001g0034	11	442	0.0249	-1	c.325 others(8): Show c.325-367delA	AARD	ENSG00000205002.4	transcript	ENST00000378279.4	protein_coding	1/1		chr8	TogoVar
AARD_chr8_116933207_116949487	116942266	C C	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	442	0.0023	0	c.325 others(7): Show c.325-292C>T	AARD	ENSG00000205002.4	transcript	ENST00000378279.4	protein_coding	1/1		chr8	TogoVar
AARS1_chr16_70247298_70294506	70253037	CTT CTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03139.hp2 NA20129.hp1 HG02055.hp2 HG03139.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0322 a0001c0002t0003g0323 a0001c0002t0003g0324 a0001c0002t0003g0322 a0001c0002t0003g0323 a0001c0002t0003g0324	3	362	0.0083	-2	c.272 others(19): Show c.2722-133_2722-132delAA	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	20/20		chr16	TogoVar
AARS1_chr16_70247298_70294506	70253607	G G	A A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	362	0.0028	0	c.260 others(8): Show c.2607+107C>T	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	19/20		chr16	TogoVar
AARS1_chr16_70247298_70294506	70253611	G G	A A	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18983.hp1 NA19068.hp1 NA18947.hp1 NA18983.hp1 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0190 a0001c0002t0001g0196 a0001c0002t0001g0231 a0001c0002t0001g0190 a0001c0002t0001g0196 a0001c0002t0001g0231	3	362	0.0083	0	c.260 others(8): Show c.2607+103C>T	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	19/20		chr16	TogoVar
AARS1_chr16_70247298_70294506	70253671	A A	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02109.hp2 HG02258.hp2 others(19): Show HG01433.hp2 HG02109.hp2 HG02258.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02647.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03579.hp2 NA18906.hp1 NA18906.hp2 NA20300.hp1	a0002 a0005 a0002 a0005	a0002c0004 a0005c0009 a0002c0004 a0005c0009	a0002c0004t0001 a0005c0009t0001 a0002c0004t0001 a0005c0009t0001	a0002c0004t0001g0335 a0002c0004t0001g0337 a0002c0004t0001g0339 others(19): Show a0002c0004t0001g0335 a0002c0004t0001g0337 a0002c0004t0001g0339 a0002c0004t0001g0341 a0002c0004t0001g0343 a0002c0004t0001g0344 a0002c0004t0001g0345 a0002c0004t0001g0346 a0002c0004t0001g0347 a0002c0004t0001g0348 a0002c0004t0001g0349 a0002c0004t0001g0350 a0002c0004t0001g0351 a0002c0004t0001g0352 a0002c0004t0001g0353 a0002c0004t0001g0354 a0002c0004t0001g0355 a0002c0004t0001g0356 a0002c0004t0001g0357 a0002c0004t0001g0358 a0002c0004t0001g0359 a0005c0009t0001g0336	22	362	0.0608	0	c.260 others(7): Show c.2607+43T>C	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	19/20		chr16	TogoVar
AARS1_chr16_70247298_70294506	70253810	A A	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	362	0.0028	0	c.252 others(7): Show c.2521-10T>C	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	18/20		chr16	TogoVar
AARS1_chr16_70247298_70294506	70254321	A A	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02109.hp2 HG02258.hp2 others(19): Show HG01433.hp2 HG02109.hp2 HG02258.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02647.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03579.hp2 NA18906.hp1 NA18906.hp2 NA20300.hp1	a0002 a0005 a0002 a0005	a0002c0004 a0005c0009 a0002c0004 a0005c0009	a0002c0004t0001 a0005c0009t0001 a0002c0004t0001 a0005c0009t0001	a0002c0004t0001g0335 a0002c0004t0001g0337 a0002c0004t0001g0339 others(19): Show a0002c0004t0001g0335 a0002c0004t0001g0337 a0002c0004t0001g0339 a0002c0004t0001g0341 a0002c0004t0001g0343 a0002c0004t0001g0344 a0002c0004t0001g0345 a0002c0004t0001g0346 a0002c0004t0001g0347 a0002c0004t0001g0348 a0002c0004t0001g0349 a0002c0004t0001g0350 a0002c0004t0001g0351 a0002c0004t0001g0352 a0002c0004t0001g0353 a0002c0004t0001g0354 a0002c0004t0001g0355 a0002c0004t0001g0356 a0002c0004t0001g0357 a0002c0004t0001g0358 a0002c0004t0001g0359 a0005c0009t0001g0336	22	362	0.0608	0	c.240 others(8): Show c.2401-283T>C	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	17/20		chr16	TogoVar
AARS1_chr16_70247298_70294506	70254496	A A	T T	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0262 a0001c0002t0001g0262	1	362	0.0028	0	c.240 others(8): Show c.2400+125T>A	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	17/20		chr16	TogoVar
AARS1_chr16_70247298_70294506	70254544	C C	A A	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0262 a0001c0002t0001g0262	1	362	0.0028	0	c.240 others(7): Show c.2400+77G>T	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	17/20		chr16	TogoVar
AARS1_chr16_70247298_70294506	70254829	T T	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02055.hp2 HG02109.hp1 others(31): Show HG01433.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA20129.hp1 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0002 a0002c0004 a0003c0005 others(1): Show a0001c0002 a0002c0004 a0003c0005 a0005c0009	a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 others(3): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0002c0004t0001 a0003c0005t0001 a0005c0009t0001	a0001c0002t0001g0001 a0001c0002t0001g0148 a0001c0002t0003g0322 others(30): Show a0001c0002t0001g0001 a0001c0002t0001g0148 a0001c0002t0003g0322 a0001c0002t0003g0323 a0001c0002t0003g0324 a0001c0002t0004g0149 a0001c0002t0004g0150 a0002c0004t0001g0335 a0002c0004t0001g0337 a0002c0004t0001g0339 a0002c0004t0001g0341 a0002c0004t0001g0343 a0002c0004t0001g0344 a0002c0004t0001g0345 a0002c0004t0001g0346 a0002c0004t0001g0347 a0002c0004t0001g0348 a0002c0004t0001g0349 a0002c0004t0001g0350 a0002c0004t0001g0351 a0002c0004t0001g0352 a0002c0004t0001g0353 a0002c0004t0001g0354 a0002c0004t0001g0355 a0002c0004t0001g0356 a0002c0004t0001g0357 a0002c0004t0001g0358 a0002c0004t0001g0359 a0003c0005t0001g0151 a0003c0005t0001g0152 a0003c0005t0001g0153 a0003c0005t0001g0320 a0005c0009t0001g0336	34	362	0.0939	0	c.228 others(7): Show c.2287-95A>G	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	16/20		chr16	TogoVar
AARS1_chr16_70247298_70294506	70254892	C C	A A	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18971.hp1 NA18988.hp2 NA18954.hp2 NA18971.hp1 NA18988.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0236 a0001c0002t0001g0289 a0001c0002t0001g0319 a0001c0002t0001g0236 a0001c0002t0001g0289 a0001c0002t0001g0319	3	362	0.0083	0	c.228 others(8): Show c.2287-158G>T	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	16/20		chr16	TogoVar
AARS1_chr16_70247298_70294506	70254941	C C	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA19240.hp2 HG02630.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0055 a0001c0001t0001g0047 a0001c0001t0001g0055	2	362	0.0055	0	c.228 others(8): Show c.2287-207G>A	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	16/20		chr16	TogoVar
AARS1_chr16_70247298_70294506	70255123	C C	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00733.hp1 HG01358.hp2 others(31): Show HG00597.hp2 HG00733.hp1 HG01358.hp2 HG01496.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG02027.hp1 HG02129.hp2 HG02135.hp1 HG02155.hp1 HG03710.hp1 HG04184.hp2 NA18941.hp2 NA18944.hp2 NA18946.hp1 NA18949.hp1 NA18954.hp2 NA18969.hp1 NA18971.hp1 NA18980.hp2 NA18984.hp1 NA18988.hp2 NA18990.hp2 NA18992.hp2 NA18993.hp2 NA18998.hp2 NA19057.hp1 NA19060.hp2 NA19068.hp2 NA19074.hp2 NA19078.hp1 NA19082.hp2 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0005 a0001c0002t0001 a0001c0002t0005	a0001c0002t0001g0163 a0001c0002t0001g0183 a0001c0002t0001g0235 others(31): Show a0001c0002t0001g0163 a0001c0002t0001g0183 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0245 a0001c0002t0001g0253 a0001c0002t0001g0259 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0294 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0304 a0001c0002t0001g0308 a0001c0002t0001g0309 a0001c0002t0001g0314 a0001c0002t0001g0319 a0001c0002t0001g0327 a0001c0002t0001g0360 a0001c0002t0005g0293	34	362	0.0939	0	c.228 others(8): Show c.2287-389G>A	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	16/20		chr16	TogoVar
AARS1_chr16_70247298_70294506	70255126	T T	C C	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA20129.hp2 HG03239.hp2 NA20129.hp2	a0006 a0009 a0006 a0009	a0006c0018 a0009c0017 a0006c0018 a0009c0017	a0006c0018t0001 a0009c0017t0001 a0006c0018t0001 a0009c0017t0001	a0006c0018t0001g0016 a0009c0017t0001g0026 a0006c0018t0001g0016 a0009c0017t0001g0026	2	362	0.0055	0	c.228 others(8): Show c.2287-392A>G	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	16/20		chr16	TogoVar
AARS1_chr16_70247298_70294506	70255134	C C	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0342 a0002c0004t0001g0342	1	362	0.0028	0	c.228 others(8): Show c.2287-400G>A	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	16/20		chr16	TogoVar
AARS1_chr16_70247298_70294506	70255135	G G	A A	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02109.hp2 HG02258.hp2 others(19): Show HG01433.hp2 HG02109.hp2 HG02258.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02647.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03579.hp2 NA18906.hp1 NA18906.hp2 NA20300.hp1	a0002 a0005 a0002 a0005	a0002c0004 a0005c0009 a0002c0004 a0005c0009	a0002c0004t0001 a0005c0009t0001 a0002c0004t0001 a0005c0009t0001	a0002c0004t0001g0335 a0002c0004t0001g0337 a0002c0004t0001g0339 others(19): Show a0002c0004t0001g0335 a0002c0004t0001g0337 a0002c0004t0001g0339 a0002c0004t0001g0341 a0002c0004t0001g0343 a0002c0004t0001g0344 a0002c0004t0001g0345 a0002c0004t0001g0346 a0002c0004t0001g0347 a0002c0004t0001g0348 a0002c0004t0001g0349 a0002c0004t0001g0350 a0002c0004t0001g0351 a0002c0004t0001g0352 a0002c0004t0001g0353 a0002c0004t0001g0354 a0002c0004t0001g0355 a0002c0004t0001g0356 a0002c0004t0001g0357 a0002c0004t0001g0358 a0002c0004t0001g0359 a0005c0009t0001g0336	22	362	0.0608	0	c.228 others(8): Show c.2287-401C>T	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	16/20		chr16	TogoVar
AARS1_chr16_70247298_70294506	70255160	A A	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02109.hp2 HG02258.hp2 others(19): Show HG01433.hp2 HG02109.hp2 HG02258.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02647.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03579.hp2 NA18906.hp1 NA18906.hp2 NA20300.hp1	a0002 a0005 a0002 a0005	a0002c0004 a0005c0009 a0002c0004 a0005c0009	a0002c0004t0001 a0005c0009t0001 a0002c0004t0001 a0005c0009t0001	a0002c0004t0001g0335 a0002c0004t0001g0337 a0002c0004t0001g0339 others(19): Show a0002c0004t0001g0335 a0002c0004t0001g0337 a0002c0004t0001g0339 a0002c0004t0001g0341 a0002c0004t0001g0343 a0002c0004t0001g0344 a0002c0004t0001g0345 a0002c0004t0001g0346 a0002c0004t0001g0347 a0002c0004t0001g0348 a0002c0004t0001g0349 a0002c0004t0001g0350 a0002c0004t0001g0351 a0002c0004t0001g0352 a0002c0004t0001g0353 a0002c0004t0001g0354 a0002c0004t0001g0355 a0002c0004t0001g0356 a0002c0004t0001g0357 a0002c0004t0001g0358 a0002c0004t0001g0359 a0005c0009t0001g0336	22	362	0.0608	0	c.228 others(8): Show c.2287-426T>C	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	16/20		chr16	TogoVar
AARS1_chr16_70247298_70294506	70255193	C C	CTTTTTT CTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp2 HG02886.hp2 others(3): Show HG02109.hp2 HG02451.hp2 HG02886.hp2 HG02922.hp2 HG03130.hp1 HG03195.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0335 a0002c0004t0001g0337 a0002c0004t0001g0339 others(3): Show a0002c0004t0001g0335 a0002c0004t0001g0337 a0002c0004t0001g0339 a0002c0004t0001g0341 a0002c0004t0001g0345 a0002c0004t0001g0346	6	362	0.0166	6	c.228 others(23): Show c.2287-460_2287-459insAAAAAA	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	16/20		chr16	TogoVar
AARS1_chr16_70247298_70294506	70255194	A A	AT AT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp2 HG00597.hp1 others(97): Show HG00323.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00738.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01928.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02027.hp2 HG02071.hp1 HG02080.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02148.hp2 HG02165.hp2 HG02559.hp1 HG02572.hp1 HG02630.hp1 HG02735.hp1 HG02738.hp2 HG02886.hp1 HG03098.hp1 HG03239.hp1 HG03490.hp2 HG03704.hp1 HG03710.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 NA18747.hp1 NA18939.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18947.hp2 NA18949.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18978.hp2 NA18980.hp1 NA18984.hp2 NA18988.hp1 NA18990.hp1 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19003.hp1 NA19009.hp2 NA19010.hp2 NA19012.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19062.hp2 NA19065.hp2 NA19074.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0013 a0001c0016 a0010c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0002t0001 a0001c0003t0001 a0001c0007t0001 a0001c0013t0001 a0001c0016t0001 a0010c0014t0001	a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0038 others(97): Show a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0166 a0001c0001t0002g0180 a0001c0001t0002g0311 a0001c0001t0007g0334 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0163 a0001c0002t0001g0165 a0001c0002t0001g0177 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0193 a0001c0002t0001g0197 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0224 a0001c0002t0001g0226 a0001c0002t0001g0242 a0001c0002t0001g0245 a0001c0002t0001g0259 a0001c0002t0001g0262 a0001c0002t0001g0276 a0001c0002t0001g0290 a0001c0002t0001g0296 a0001c0002t0001g0300 a0001c0002t0001g0307 a0001c0002t0001g0325 a0001c0002t0001g0360 a0001c0003t0001g0176 a0001c0003t0001g0270 a0001c0003t0001g0303 a0001c0007t0001g0070 a0001c0007t0001g0092 a0001c0013t0001g0086 a0001c0016t0001g0097 a0010c0014t0001g0110	100	362	0.2762	1	c.228 others(9): Show c.2287-461dupA	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	16/20		chr16	TogoVar
AARS1_chr16_70247298_70294506	70255194	A A	ATT ATT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00438.hp1 others(10): Show HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00741.hp2 HG01109.hp1 HG01169.hp1 HG02040.hp2 HG02738.hp1 NA18993.hp1 NA18997.hp1 NA19056.hp1 NA19058.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0073 others(10): Show a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0122 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0002t0001g0257	13	362	0.0359	2	c.228 others(19): Show c.2287-462_2287-461dupAA	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	16/20		chr16	TogoVar
AARS1_chr16_70247298_70294506	70255194	A A	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp2 HG02886.hp2 others(5): Show HG02109.hp2 HG02451.hp2 HG02886.hp2 HG02922.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp2 NA18906.hp2	a0002 a0005 a0002 a0005	a0002c0004 a0005c0009 a0002c0004 a0005c0009	a0002c0004t0001 a0005c0009t0001 a0002c0004t0001 a0005c0009t0001	a0002c0004t0001g0335 a0002c0004t0001g0337 a0002c0004t0001g0339 others(5): Show a0002c0004t0001g0335 a0002c0004t0001g0337 a0002c0004t0001g0339 a0002c0004t0001g0341 a0002c0004t0001g0344 a0002c0004t0001g0345 a0002c0004t0001g0346 a0005c0009t0001g0336	8	362	0.0221	0	c.228 others(8): Show c.2287-460T>A	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	16/20		chr16	TogoVar
AARS1_chr16_70247298_70294506	70255194	AT AT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01071.hp1 HG02015.hp1 others(24): Show HG00558.hp1 HG01071.hp1 HG02015.hp1 HG02040.hp1 HG02080.hp1 HG03139.hp1 HG03239.hp2 HG03654.hp1 HG03927.hp1 HG04204.hp2 NA18612.hp2 NA18941.hp1 NA18950.hp2 NA18960.hp1 NA18969.hp1 NA18970.hp2 NA18975.hp2 NA18987.hp2 NA18999.hp1 NA18999.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19063.hp1 NA19085.hp2 NA20129.hp2 NA20905.hp2	a0001 a0006 a0007 others(1): Show a0001 a0006 a0007 a0009	a0001c0001 a0001c0002 a0006c0018 others(2): Show a0001c0001 a0001c0002 a0006c0018 a0007c0015 a0009c0017	a0001c0001t0001 a0001c0002t0001 a0006c0018t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0006c0018t0001 a0007c0015t0001 a0009c0017t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 others(24): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0045 a0001c0002t0001g0216 a0001c0002t0001g0278 a0001c0002t0001g0315 a0006c0018t0001g0016 a0007c0015t0001g0009 a0009c0017t0001g0026	27	362	0.0746	-1	c.228 others(9): Show c.2287-461delA	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	16/20		chr16	TogoVar
AARS1_chr16_70247298_70294506	70255217	G G	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02109.hp2 HG02258.hp2 others(19): Show HG01433.hp2 HG02109.hp2 HG02258.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02647.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03579.hp2 NA18906.hp1 NA18906.hp2 NA20300.hp1	a0002 a0005 a0002 a0005	a0002c0004 a0005c0009 a0002c0004 a0005c0009	a0002c0004t0001 a0005c0009t0001 a0002c0004t0001 a0005c0009t0001	a0002c0004t0001g0335 a0002c0004t0001g0337 a0002c0004t0001g0339 others(19): Show a0002c0004t0001g0335 a0002c0004t0001g0337 a0002c0004t0001g0339 a0002c0004t0001g0341 a0002c0004t0001g0343 a0002c0004t0001g0344 a0002c0004t0001g0345 a0002c0004t0001g0346 a0002c0004t0001g0347 a0002c0004t0001g0348 a0002c0004t0001g0349 a0002c0004t0001g0350 a0002c0004t0001g0351 a0002c0004t0001g0352 a0002c0004t0001g0353 a0002c0004t0001g0354 a0002c0004t0001g0355 a0002c0004t0001g0356 a0002c0004t0001g0357 a0002c0004t0001g0358 a0002c0004t0001g0359 a0005c0009t0001g0336	22	362	0.0608	0	c.228 others(8): Show c.2287-483C>A	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	16/20		chr16	TogoVar
AARS1_chr16_70247298_70294506	70255236	G G	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02559.hp2 HG02647.hp2 others(7): Show HG02258.hp2 HG02559.hp2 HG02647.hp2 HG02896.hp2 HG02922.hp1 HG02970.hp2 HG03471.hp2 HG03516.hp2 HG03579.hp2 NA18906.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0349 a0002c0004t0001g0350 a0002c0004t0001g0351 others(7): Show a0002c0004t0001g0349 a0002c0004t0001g0350 a0002c0004t0001g0351 a0002c0004t0001g0352 a0002c0004t0001g0353 a0002c0004t0001g0354 a0002c0004t0001g0355 a0002c0004t0001g0356 a0002c0004t0001g0357 a0002c0004t0001g0358	10	362	0.0276	0	c.228 others(8): Show c.2286+492C>T	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	16/20		chr16	TogoVar
AARS1_chr16_70247298_70294506	70255254	C C	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02109.hp2 HG02258.hp2 others(19): Show HG01433.hp2 HG02109.hp2 HG02258.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02647.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03579.hp2 NA18906.hp1 NA18906.hp2 NA20300.hp1	a0002 a0005 a0002 a0005	a0002c0004 a0005c0009 a0002c0004 a0005c0009	a0002c0004t0001 a0005c0009t0001 a0002c0004t0001 a0005c0009t0001	a0002c0004t0001g0335 a0002c0004t0001g0337 a0002c0004t0001g0339 others(19): Show a0002c0004t0001g0335 a0002c0004t0001g0337 a0002c0004t0001g0339 a0002c0004t0001g0341 a0002c0004t0001g0343 a0002c0004t0001g0344 a0002c0004t0001g0345 a0002c0004t0001g0346 a0002c0004t0001g0347 a0002c0004t0001g0348 a0002c0004t0001g0349 a0002c0004t0001g0350 a0002c0004t0001g0351 a0002c0004t0001g0352 a0002c0004t0001g0353 a0002c0004t0001g0354 a0002c0004t0001g0355 a0002c0004t0001g0356 a0002c0004t0001g0357 a0002c0004t0001g0358 a0002c0004t0001g0359 a0005c0009t0001g0336	22	362	0.0608	0	c.228 others(8): Show c.2286+474G>A	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	16/20		chr16	TogoVar
AARS1_chr16_70247298_70294506	70255348	C C	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02109.hp2 HG02258.hp2 others(19): Show HG01433.hp2 HG02109.hp2 HG02258.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02647.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03579.hp2 NA18906.hp1 NA18906.hp2 NA20300.hp1	a0002 a0005 a0002 a0005	a0002c0004 a0005c0009 a0002c0004 a0005c0009	a0002c0004t0001 a0005c0009t0001 a0002c0004t0001 a0005c0009t0001	a0002c0004t0001g0335 a0002c0004t0001g0337 a0002c0004t0001g0339 others(19): Show a0002c0004t0001g0335 a0002c0004t0001g0337 a0002c0004t0001g0339 a0002c0004t0001g0341 a0002c0004t0001g0343 a0002c0004t0001g0344 a0002c0004t0001g0345 a0002c0004t0001g0346 a0002c0004t0001g0347 a0002c0004t0001g0348 a0002c0004t0001g0349 a0002c0004t0001g0350 a0002c0004t0001g0351 a0002c0004t0001g0352 a0002c0004t0001g0353 a0002c0004t0001g0354 a0002c0004t0001g0355 a0002c0004t0001g0356 a0002c0004t0001g0357 a0002c0004t0001g0358 a0002c0004t0001g0359 a0005c0009t0001g0336	22	362	0.0608	0	c.228 others(8): Show c.2286+380G>A	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	16/20		chr16	TogoVar
AARS1_chr16_70247298_70294506	70255387	A A	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	362	0.0028	0	c.228 others(8): Show c.2286+341T>G	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	16/20		chr16	TogoVar
AARS1_chr16_70247298_70294506	70255478	GTGAGCCA others(12): Show GTGAGCCACTGCGTCCGGCC	G G	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	362	0.0028	-19	c.228 others(36): Show c.2286+231_2286+249delGGCCGGACGCAGTGGCTCA	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	16/20		chr16	TogoVar
AARS1_chr16_70247298_70294506	70255526	CAT CAT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02559.hp2 HG02647.hp2 others(7): Show HG02258.hp2 HG02559.hp2 HG02647.hp2 HG02896.hp2 HG02922.hp1 HG02970.hp2 HG03471.hp2 HG03516.hp2 HG03579.hp2 NA18906.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0349 a0002c0004t0001g0350 a0002c0004t0001g0351 others(7): Show a0002c0004t0001g0349 a0002c0004t0001g0350 a0002c0004t0001g0351 a0002c0004t0001g0352 a0002c0004t0001g0353 a0002c0004t0001g0354 a0002c0004t0001g0355 a0002c0004t0001g0356 a0002c0004t0001g0357 a0002c0004t0001g0358	10	362	0.0276	-2	c.228 others(19): Show c.2286+200_2286+201delAT	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	16/20		chr16	TogoVar
AARS1_chr16_70247298_70294506	70255554	T T	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp1 HG02451.hp1 others(5): Show HG02055.hp2 HG02109.hp1 HG02451.hp1 HG02486.hp2 HG02717.hp2 HG03139.hp2 HG03540.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004	a0001c0002t0001g0001 a0001c0002t0001g0148 a0001c0002t0003g0322 others(4): Show a0001c0002t0001g0001 a0001c0002t0001g0148 a0001c0002t0003g0322 a0001c0002t0003g0323 a0001c0002t0003g0324 a0001c0002t0004g0149 a0001c0002t0004g0150	8	362	0.0221	0	c.228 others(8): Show c.2286+174A>G	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	16/20		chr16	TogoVar

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