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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Select column to sort.

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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	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	chr	external
AACS_chr12_125060435_125148316	125122217	G G	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02735.hp2 HG03017.hp2 HG00642.hp1 HG02735.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260	3	364	0.0082	c.112 others(9): Show c.1122-2488G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	10/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125122223	G G	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0358 a0001c0001t0001g0358	1	364	0.0028	c.112 others(9): Show c.1122-2482G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	10/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125122278	C C	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00733.hp1 HG00741.hp1 others(10): Show HG00639.hp2 HG00733.hp1 HG00741.hp1 HG01081.hp1 HG01099.hp2 HG01884.hp1 HG01891.hp1 HG02109.hp2 HG02486.hp2 HG02572.hp1 HG02723.hp2 HG02922.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0006 a0002c0005t0001 a0001c0001t0001 a0001c0001t0006 a0002c0005t0001	a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0109 others(10): Show a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0109 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0340 a0001c0001t0006g0092 a0002c0005t0001g0015 a0002c0005t0001g0020 a0002c0005t0001g0021 a0002c0005t0001g0023 a0002c0005t0001g0024 a0002c0005t0001g0025	13	364	0.0357	c.112 others(9): Show c.1122-2427C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	10/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125122580	T T	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02717.hp2 HG03209.hp1 HG02258.hp2 HG02717.hp2 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0053 a0001c0003t0001g0354 a0001c0003t0001g0355 a0001c0003t0001g0053 a0001c0003t0001g0354 a0001c0003t0001g0355	3	364	0.0082	c.112 others(9): Show c.1122-2125T>C		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	10/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125122791	C C	T T	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02135.hp2 HG02080.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0337 a0001c0001t0001g0029 a0001c0001t0001g0337	2	364	0.0055	c.112 others(9): Show c.1122-1914C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	10/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125122838	C C	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01243.hp1 HG01884.hp2 others(9): Show HG00099.hp2 HG01243.hp1 HG01884.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02647.hp2 HG03098.hp1 HG03098.hp2 HG03540.hp1 HG03540.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0097 a0001c0001t0001g0257 a0001c0001t0001g0285 others(9): Show a0001c0001t0001g0097 a0001c0001t0001g0257 a0001c0001t0001g0285 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0009 a0002c0002t0001g0036 a0002c0002t0001g0124 a0002c0002t0001g0137 a0002c0002t0001g0265 a0002c0002t0001g0269 a0002c0002t0001g0271	12	364	0.0330	c.112 others(9): Show c.1122-1867C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	10/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125122848	A A	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03471.hp1 HG03471.hp2 others(3): Show HG02922.hp2 HG03471.hp1 HG03471.hp2 HG03579.hp1 HG06807.hp1 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0001 a0002c0007t0001 a0001c0001t0001 a0002c0007t0001	a0001c0001t0001g0010 a0001c0001t0001g0162 a0001c0001t0001g0163 others(3): Show a0001c0001t0001g0010 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0002c0007t0001g0017 a0002c0007t0001g0027	6	364	0.0165	c.112 others(9): Show c.1122-1857A>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	10/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125122934	C C	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0195 a0001c0001t0002g0195	1	364	0.0028	c.112 others(9): Show c.1122-1771C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	10/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125123057	A A	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp2 HG01975.hp1 others(21): Show HG00544.hp2 HG00597.hp2 HG01975.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02132.hp2 HG02165.hp1 HG02293.hp1 HG02451.hp2 HG02615.hp2 HG03139.hp2 HG04184.hp1 NA18955.hp1 NA18966.hp1 NA18975.hp2 NA18977.hp2 NA18989.hp2 NA18992.hp1 NA19007.hp1 NA19010.hp2 NA19030.hp1 NA19055.hp1 NA19060.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0001c0012 a0002c0011 a0002c0021	a0001c0001t0001 a0001c0003t0004 a0001c0004t0001 others(5): Show a0001c0001t0001 a0001c0003t0004 a0001c0004t0001 a0001c0004t0004 a0001c0008t0001 a0001c0012t0004 a0002c0011t0001 a0002c0021t0001	a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 others(21): Show a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0003t0004g0083 a0001c0004t0001g0212 a0001c0004t0001g0213 a0001c0004t0004g0098 a0001c0004t0004g0167 a0001c0004t0004g0209 a0001c0004t0004g0237 a0001c0004t0004g0241 a0001c0004t0004g0242 a0001c0004t0004g0243 a0001c0004t0004g0245 a0001c0004t0004g0246 a0001c0004t0004g0249 a0001c0004t0004g0250 a0001c0004t0004g0254 a0001c0004t0004g0328 a0001c0004t0004g0341 a0001c0008t0001g0211 a0001c0012t0004g0244 a0002c0011t0001g0014 a0002c0021t0001g0026	24	364	0.0659	c.112 others(9): Show c.1122-1648A>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	10/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125123081	T T	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(359): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010	a0001c0001 a0001c0003 a0001c0004 others(23): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0001c0009 a0001c0012 a0001c0015 a0001c0017 a0001c0020 a0002c0002 a0002c0005 a0002c0006 a0002c0007 a0002c0010 a0002c0011 a0002c0021 a0002c0025 a0002c0026 a0003c0019 a0004c0018 a0005c0014 a0006c0013 a0007c0016 a0008c0023 a0009c0024 a0010c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(39): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0003t0001 a0001c0003t0004 a0001c0003t0009 a0001c0004t0001 a0001c0004t0004 a0001c0008t0001 a0001c0008t0002 a0001c0009t0001 a0001c0012t0004 a0001c0015t0001 a0001c0017t0002 a0001c0020t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0005t0001 a0002c0006t0001 a0002c0007t0001 a0002c0010t0001 a0002c0011t0001 a0002c0021t0001 a0002c0025t0001 a0002c0026t0001 a0003c0019t0001 a0004c0018t0003 a0005c0014t0001 a0006c0013t0001 a0007c0016t0001 a0008c0023t0003 a0009c0024t0001 a0010c0022t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 others(354): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0109 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0196 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0233 a0001c0001t0001g0239 a0001c0001t0001g0251 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0315 a0001c0001t0001g0319 a0001c0001t0001g0325 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0337 a0001c0001t0001g0340 a0001c0001t0001g0343 a0001c0001t0001g0345 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0002g0002 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0101 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0193 a0001c0001t0002g0195 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0223 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0240 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0286 a0001c0001t0002g0293 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0316 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0344 a0001c0001t0002g0347 a0001c0001t0003g0041 a0001c0001t0003g0044 a0001c0001t0003g0179 a0001c0001t0003g0219 a0001c0001t0003g0276 a0001c0001t0003g0288 a0001c0001t0003g0290 a0001c0001t0003g0292 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0320 a0001c0001t0003g0324 a0001c0001t0003g0326 a0001c0001t0003g0330 a0001c0001t0005g0048 a0001c0001t0005g0060 a0001c0001t0005g0063 a0001c0001t0005g0072 a0001c0001t0005g0099 a0001c0001t0005g0103 a0001c0001t0005g0104 a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0005g0107 a0001c0001t0005g0110 a0001c0001t0005g0192 a0001c0001t0005g0346 a0001c0001t0006g0064 a0001c0001t0006g0076 a0001c0001t0006g0084 a0001c0001t0006g0092 a0001c0001t0006g0160 a0001c0001t0006g0186 a0001c0001t0006g0197 a0001c0001t0006g0198 a0001c0001t0006g0199 a0001c0001t0006g0224 a0001c0001t0006g0336 a0001c0001t0008g0208 a0001c0001t0010g0194 a0001c0001t0011g0108 a0001c0003t0001g0053 a0001c0003t0001g0168 a0001c0003t0001g0210 a0001c0003t0001g0214 a0001c0003t0001g0215 a0001c0003t0001g0216 a0001c0003t0001g0217 a0001c0003t0001g0221 a0001c0003t0001g0222 a0001c0003t0001g0225 a0001c0003t0001g0226 a0001c0003t0001g0234 a0001c0003t0001g0235 a0001c0003t0001g0236 a0001c0003t0001g0256 a0001c0003t0001g0262 a0001c0003t0001g0338 a0001c0003t0001g0342 a0001c0003t0001g0353 a0001c0003t0001g0354 a0001c0003t0001g0355 a0001c0003t0004g0083 a0001c0003t0009g0189 a0001c0004t0001g0212 a0001c0004t0001g0213 a0001c0004t0004g0098 a0001c0004t0004g0167 a0001c0004t0004g0209 a0001c0004t0004g0237 a0001c0004t0004g0241 a0001c0004t0004g0242 a0001c0004t0004g0243 a0001c0004t0004g0245 a0001c0004t0004g0246 a0001c0004t0004g0249 a0001c0004t0004g0250 a0001c0004t0004g0254 a0001c0004t0004g0328 a0001c0004t0004g0341 a0001c0008t0001g0211 a0001c0008t0002g0238 a0001c0009t0001g0348 a0001c0009t0001g0349 a0001c0012t0004g0244 a0001c0015t0001g0070 a0001c0017t0002g0204 a0001c0020t0002g0173 a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0036 a0002c0002t0001g0075 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0102 a0002c0002t0001g0111 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0121 a0002c0002t0001g0124 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0137 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0002g0125 a0002c0002t0002g0359 a0002c0002t0003g0120 a0002c0002t0005g0096 a0002c0002t0006g0136 a0002c0002t0007g0112 a0002c0002t0007g0113 a0002c0002t0007g0146 a0002c0002t0007g0279 a0002c0005t0001g0015 a0002c0005t0001g0019 a0002c0005t0001g0020 a0002c0005t0001g0021 a0002c0005t0001g0022 a0002c0005t0001g0023 a0002c0005t0001g0024 a0002c0005t0001g0025 a0002c0006t0001g0122 a0002c0006t0001g0123 a0002c0006t0001g0138 a0002c0006t0001g0149 a0002c0007t0001g0016 a0002c0007t0001g0017 a0002c0007t0001g0027 a0002c0010t0001g0018 a0002c0011t0001g0014 a0002c0021t0001g0026 a0002c0025t0001g0255 a0002c0026t0001g0145 a0003c0019t0001g0184 a0004c0018t0003g0280 a0005c0014t0001g0339 a0006c0013t0001g0350 a0007c0016t0001g0032 a0008c0023t0003g0119 a0009c0024t0001g0263 a0010c0022t0001g0128	362	364	0.9945	c.112 others(9): Show c.1122-1624T>C		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	10/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125123083	C C	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18964.hp1 NA18983.hp2 others(2): Show HG00621.hp2 NA18964.hp1 NA18983.hp2 NA18993.hp2 NA19080.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0327 a0002c0002t0001g0121 a0002c0002t0001g0130 others(2): Show a0001c0001t0001g0327 a0002c0002t0001g0121 a0002c0002t0001g0130 a0002c0002t0001g0150 a0002c0002t0001g0152	5	364	0.0137	c.112 others(9): Show c.1122-1622C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	10/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125123281	T T	G G	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18957.hp1 NA19078.hp2 NA18953.hp1 NA18957.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0017 a0001c0001 a0001c0017	a0001c0001t0002 a0001c0017t0002 a0001c0001t0002 a0001c0017t0002	a0001c0001t0002g0183 a0001c0001t0002g0252 a0001c0017t0002g0204 a0001c0001t0002g0183 a0001c0001t0002g0252 a0001c0017t0002g0204	3	364	0.0082	c.112 others(9): Show c.1122-1424T>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	10/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125123282	A A	G G	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18957.hp1 NA19078.hp2 NA18953.hp1 NA18957.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0017 a0001c0001 a0001c0017	a0001c0001t0002 a0001c0017t0002 a0001c0001t0002 a0001c0017t0002	a0001c0001t0002g0183 a0001c0001t0002g0252 a0001c0017t0002g0204 a0001c0001t0002g0183 a0001c0001t0002g0252 a0001c0017t0002g0204	3	364	0.0082	c.112 others(9): Show c.1122-1423A>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	10/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125123482	T T	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00544.hp1 others(190): Show HG00140.hp2 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18949.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18962.hp1 NA18966.hp1 NA18967.hp2 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18992.hp1 NA18997.hp1 NA18999.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19055.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA19067.hp2 NA19078.hp2 NA19079.hp1 NA19081.hp1 NA19087.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0006 a0007 a0009	a0001c0001 a0001c0003 a0001c0004 others(19): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0001c0009 a0001c0012 a0001c0015 a0001c0017 a0001c0020 a0002c0002 a0002c0005 a0002c0006 a0002c0007 a0002c0010 a0002c0011 a0002c0021 a0002c0025 a0003c0019 a0005c0014 a0006c0013 a0007c0016 a0009c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0003t0001 a0001c0003t0004 a0001c0004t0001 a0001c0004t0004 a0001c0008t0001 a0001c0008t0002 a0001c0009t0001 a0001c0012t0004 a0001c0015t0001 a0001c0017t0002 a0001c0020t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0005t0001 a0002c0006t0001 a0002c0007t0001 a0002c0010t0001 a0002c0011t0001 a0002c0021t0001 a0002c0025t0001 a0003c0019t0001 a0005c0014t0001 a0006c0013t0001 a0007c0016t0001 a0009c0024t0001	a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0012 others(187): Show a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0109 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0196 a0001c0001t0001g0203 a0001c0001t0001g0251 a0001c0001t0001g0257 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0287 a0001c0001t0001g0331 a0001c0001t0001g0334 a0001c0001t0001g0340 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0002g0002 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0101 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0193 a0001c0001t0002g0195 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0223 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0240 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0286 a0001c0001t0002g0293 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0316 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0344 a0001c0001t0002g0347 a0001c0001t0005g0048 a0001c0001t0005g0060 a0001c0001t0005g0072 a0001c0001t0005g0099 a0001c0001t0005g0103 a0001c0001t0005g0104 a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0005g0107 a0001c0001t0005g0110 a0001c0001t0005g0192 a0001c0001t0005g0346 a0001c0001t0006g0092 a0001c0001t0010g0194 a0001c0001t0011g0108 a0001c0003t0001g0053 a0001c0003t0001g0354 a0001c0003t0001g0355 a0001c0003t0004g0083 a0001c0004t0001g0212 a0001c0004t0001g0213 a0001c0004t0004g0098 a0001c0004t0004g0167 a0001c0004t0004g0209 a0001c0004t0004g0237 a0001c0004t0004g0241 a0001c0004t0004g0242 a0001c0004t0004g0243 a0001c0004t0004g0245 a0001c0004t0004g0246 a0001c0004t0004g0249 a0001c0004t0004g0250 a0001c0004t0004g0254 a0001c0004t0004g0328 a0001c0004t0004g0341 a0001c0008t0001g0211 a0001c0008t0002g0238 a0001c0009t0001g0348 a0001c0009t0001g0349 a0001c0012t0004g0244 a0001c0015t0001g0070 a0001c0017t0002g0204 a0001c0020t0002g0173 a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0036 a0002c0002t0001g0075 a0002c0002t0001g0124 a0002c0002t0001g0137 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0269 a0002c0002t0001g0271 a0002c0002t0002g0125 a0002c0002t0002g0359 a0002c0002t0005g0096 a0002c0005t0001g0015 a0002c0005t0001g0020 a0002c0005t0001g0021 a0002c0005t0001g0023 a0002c0005t0001g0024 a0002c0005t0001g0025 a0002c0006t0001g0122 a0002c0006t0001g0123 a0002c0006t0001g0138 a0002c0006t0001g0149 a0002c0007t0001g0016 a0002c0007t0001g0017 a0002c0007t0001g0027 a0002c0010t0001g0018 a0002c0011t0001g0014 a0002c0021t0001g0026 a0002c0025t0001g0255 a0003c0019t0001g0184 a0005c0014t0001g0339 a0006c0013t0001g0350 a0007c0016t0001g0032 a0009c0024t0001g0263	193	364	0.5302	c.112 others(9): Show c.1122-1223T>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	10/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125123483	G G	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03471.hp2 HG03579.hp1 others(1): Show HG02922.hp2 HG03471.hp2 HG03579.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0162 a0001c0001t0001g0163 others(1): Show a0001c0001t0001g0010 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164	4	364	0.0110	c.112 others(9): Show c.1122-1222G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	10/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125123609	G G	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02896.hp2 HG01175.hp2 HG02896.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0025 a0001c0001 a0002c0025	a0001c0001t0001 a0002c0025t0001 a0001c0001t0001 a0002c0025t0001	a0001c0001t0001g0287 a0002c0025t0001g0255 a0001c0001t0001g0287 a0002c0025t0001g0255	2	364	0.0055	c.112 others(9): Show c.1122-1096G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	10/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125123791	C C	T T	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0307 a0001c0001t0001g0307	1	364	0.0028	c.112 others(8): Show c.1122-914C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	10/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125123806	G G	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03486.hp2 HG03139.hp1 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0015 a0002c0010 a0001c0015 a0002c0010	a0001c0015t0001 a0002c0010t0001 a0001c0015t0001 a0002c0010t0001	a0001c0015t0001g0070 a0002c0010t0001g0018 a0001c0015t0001g0070 a0002c0010t0001g0018	2	364	0.0055	c.112 others(8): Show c.1122-899G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	10/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125123946	T T	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00544.hp1 others(140): Show HG00140.hp2 HG00323.hp2 HG00544.hp1 HG00558.hp2 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01258.hp1 HG01258.hp2 HG01433.hp1 HG01496.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01943.hp2 HG01981.hp1 HG02015.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18949.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18962.hp1 NA18967.hp2 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp2 NA18997.hp1 NA18999.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp2 NA19043.hp2 NA19060.hp2 NA19065.hp2 NA19067.hp2 NA19078.hp2 NA19079.hp1 NA19081.hp1 NA19087.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0006 a0007 a0009	a0001c0001 a0001c0003 a0001c0008 others(15): Show a0001c0001 a0001c0003 a0001c0008 a0001c0009 a0001c0015 a0001c0017 a0001c0020 a0002c0002 a0002c0005 a0002c0006 a0002c0007 a0002c0010 a0002c0025 a0003c0019 a0005c0014 a0006c0013 a0007c0016 a0009c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0003t0001 a0001c0008t0002 a0001c0009t0001 a0001c0015t0001 a0001c0017t0002 a0001c0020t0002 a0002c0002t0001 a0002c0002t0002 a0002c0005t0001 a0002c0006t0001 a0002c0007t0001 a0002c0010t0001 a0002c0025t0001 a0003c0019t0001 a0005c0014t0001 a0006c0013t0001 a0007c0016t0001 a0009c0024t0001	a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0012 others(137): Show a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0028 a0001c0001t0001g0039 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0109 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0196 a0001c0001t0001g0203 a0001c0001t0001g0251 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0287 a0001c0001t0001g0331 a0001c0001t0001g0334 a0001c0001t0001g0340 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0002g0002 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0101 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0193 a0001c0001t0002g0195 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0223 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0240 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0286 a0001c0001t0002g0293 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0316 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0344 a0001c0001t0002g0347 a0001c0001t0005g0048 a0001c0001t0006g0092 a0001c0001t0010g0194 a0001c0003t0001g0053 a0001c0003t0001g0354 a0001c0003t0001g0355 a0001c0008t0002g0238 a0001c0009t0001g0348 a0001c0009t0001g0349 a0001c0015t0001g0070 a0001c0017t0002g0204 a0001c0020t0002g0173 a0002c0002t0001g0004 a0002c0002t0001g0075 a0002c0002t0001g0264 a0002c0002t0002g0125 a0002c0002t0002g0359 a0002c0005t0001g0015 a0002c0005t0001g0020 a0002c0005t0001g0021 a0002c0005t0001g0023 a0002c0005t0001g0024 a0002c0005t0001g0025 a0002c0006t0001g0122 a0002c0006t0001g0123 a0002c0006t0001g0138 a0002c0006t0001g0149 a0002c0007t0001g0016 a0002c0007t0001g0017 a0002c0007t0001g0027 a0002c0010t0001g0018 a0002c0025t0001g0255 a0003c0019t0001g0184 a0005c0014t0001g0339 a0006c0013t0001g0350 a0007c0016t0001g0032 a0009c0024t0001g0263	143	364	0.3929	c.112 others(8): Show c.1122-759T>C		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	10/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125124043	C C	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	364	0.0028	c.112 others(8): Show c.1122-662C>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	10/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125124249	T T	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18954.hp2 NA18964.hp1 others(6): Show HG00621.hp2 NA18954.hp2 NA18964.hp1 NA18967.hp2 NA18983.hp2 NA18993.hp2 NA19004.hp1 NA19012.hp1 NA19080.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0006 a0001c0001 a0002c0002 a0002c0006	a0001c0001t0001 a0002c0002t0001 a0002c0006t0001 a0001c0001t0001 a0002c0002t0001 a0002c0006t0001	a0001c0001t0001g0327 a0002c0002t0001g0121 a0002c0002t0001g0130 others(6): Show a0001c0001t0001g0327 a0002c0002t0001g0121 a0002c0002t0001g0130 a0002c0002t0001g0150 a0002c0002t0001g0152 a0002c0006t0001g0122 a0002c0006t0001g0123 a0002c0006t0001g0138 a0002c0006t0001g0149	9	364	0.0247	c.112 others(8): Show c.1122-456T>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	10/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125124437	C C	T T	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0294 a0001c0001t0001g0294	1	364	0.0028	c.112 others(8): Show c.1122-268C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	10/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125124445	C C	T T	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	364	0.0028	c.112 others(8): Show c.1122-260C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	10/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125124699	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0219 a0001c0001t0003g0219	1	364	0.0028	c.112 others(6): Show c.1122-6C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	10/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125124838	T T	G G	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18992.hp2 NA19063.hp1 others(2): Show NA18959.hp2 NA18992.hp2 NA19063.hp1 NA19068.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0207 a0001c0001t0001g0227 others(2): Show a0001c0001t0001g0190 a0001c0001t0001g0207 a0001c0001t0001g0227 a0001c0001t0001g0305 a0001c0001t0001g0343	5	364	0.0137	c.118 others(7): Show c.1187-64T>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	11/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125124908	C C	T T	missense_variant missense_variant	MODERATE	HG04204.hp2 HG04204.hp2	a0003 a0003	a0003c0019 a0003c0019	a0003c0019t0001 a0003c0019t0001	a0003c0019t0001g0184 a0003c0019t0001g0184	1	364	0.0028	c.119 others(4): Show c.1193C>T	p.Thr others(6): Show p.Thr398Ile	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	12/18	1343/3256	1193/2019	398/672	chr12	TogoVar
AACS_chr12_125060435_125148316	125124913	A A	T T	missense_variant missense_variant	MODERATE	NA18967.hp1 NA18967.hp1	a0004 a0004	a0004c0018 a0004c0018	a0004c0018t0003 a0004c0018t0003	a0004c0018t0003g0280 a0004c0018t0003g0280	1	364	0.0028	c.119 others(4): Show c.1198A>T	p.Ser others(6): Show p.Ser400Cys	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	12/18	1348/3256	1198/2019	400/672	chr12	TogoVar
AACS_chr12_125060435_125148316	125125005	C C	T T	synonymous_variant synonymous_variant	LOW	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0014 a0002c0011t0001g0014	1	364	0.0028	c.129 others(4): Show c.1290C>T	p.Ile others(6): Show p.Ile430Ile	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	12/18	1440/3256	1290/2019	430/672	chr12	TogoVar
AACS_chr12_125060435_125148316	125125035	G G	A A	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0328 a0001c0004t0004g0328	1	364	0.0028	c.130 others(7): Show c.1309+11G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	12/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125125141	G G	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	364	0.0028	c.130 others(8): Show c.1309+117G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	12/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125125198	G G	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18955.hp2 NA18990.hp1 HG00558.hp1 NA18955.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0333 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0333	3	364	0.0082	c.130 others(8): Show c.1309+174G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	12/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125125427	C C	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp2 HG00733.hp2 others(25): Show HG00544.hp2 HG00597.hp2 HG00733.hp2 HG01975.hp1 HG02004.hp2 HG02040.hp2 HG02132.hp2 HG02165.hp1 HG02258.hp2 HG02293.hp1 HG02451.hp2 HG02615.hp2 HG02717.hp2 HG03139.hp2 HG03209.hp1 HG04184.hp1 NA18955.hp1 NA18966.hp1 NA18975.hp2 NA18977.hp2 NA18989.hp2 NA18992.hp1 NA19007.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp1 NA19060.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0012 a0002c0011 a0002c0021	a0001c0001t0001 a0001c0003t0001 a0001c0003t0004 others(5): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0004 a0001c0004t0001 a0001c0004t0004 a0001c0012t0004 a0002c0011t0001 a0002c0021t0001	a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0034 others(25): Show a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0159 a0001c0003t0001g0053 a0001c0003t0001g0354 a0001c0003t0001g0355 a0001c0003t0004g0083 a0001c0004t0001g0212 a0001c0004t0001g0213 a0001c0004t0004g0098 a0001c0004t0004g0167 a0001c0004t0004g0209 a0001c0004t0004g0237 a0001c0004t0004g0241 a0001c0004t0004g0242 a0001c0004t0004g0243 a0001c0004t0004g0245 a0001c0004t0004g0246 a0001c0004t0004g0249 a0001c0004t0004g0250 a0001c0004t0004g0254 a0001c0004t0004g0328 a0001c0004t0004g0341 a0001c0012t0004g0244 a0002c0011t0001g0014 a0002c0021t0001g0026	28	364	0.0769	c.130 others(8): Show c.1309+403C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	12/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125125616	C C	T T	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0321 a0001c0001t0002g0321	1	364	0.0028	c.130 others(8): Show c.1309+592C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	12/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125125684	A A	T T	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0121 a0002c0002t0001g0121	1	364	0.0028	c.130 others(8): Show c.1309+660A>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	12/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125125713	C C	T T	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	364	0.0028	c.130 others(8): Show c.1309+689C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	12/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125125764	C C	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	364	0.0028	c.130 others(8): Show c.1309+740C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	12/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125125841	T T	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03486.hp2 HG03139.hp1 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0015 a0002c0010 a0001c0015 a0002c0010	a0001c0015t0001 a0002c0010t0001 a0001c0015t0001 a0002c0010t0001	a0001c0015t0001g0070 a0002c0010t0001g0018 a0001c0015t0001g0070 a0002c0010t0001g0018	2	364	0.0055	c.130 others(8): Show c.1309+817T>C		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	12/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125126049	C C	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0022 a0002c0005t0001g0022	1	364	0.0028	c.130 others(9): Show c.1309+1025C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	12/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125126115	G G	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0262 a0001c0003t0001g0262	1	364	0.0028	c.130 others(9): Show c.1309+1091G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	12/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125126219	C C	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01123.hp1 HG01928.hp1 others(19): Show HG01099.hp1 HG01123.hp1 HG01928.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02148.hp2 HG02273.hp1 HG02293.hp2 NA18612.hp2 NA18949.hp2 NA18951.hp2 NA18957.hp2 NA18964.hp2 NA18967.hp1 NA18979.hp1 NA19009.hp1 NA19055.hp2 NA19067.hp1 NA19080.hp2 NA19090.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0018 a0001c0001 a0004c0018	a0001c0001t0003 a0001c0001t0008 a0004c0018t0003 a0001c0001t0003 a0001c0001t0008 a0004c0018t0003	a0001c0001t0003g0041 a0001c0001t0003g0044 a0001c0001t0003g0179 others(19): Show a0001c0001t0003g0041 a0001c0001t0003g0044 a0001c0001t0003g0179 a0001c0001t0003g0276 a0001c0001t0003g0288 a0001c0001t0003g0290 a0001c0001t0003g0292 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0320 a0001c0001t0003g0324 a0001c0001t0003g0326 a0001c0001t0003g0330 a0001c0001t0008g0208 a0004c0018t0003g0280	22	364	0.0604	c.130 others(9): Show c.1309+1195C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	12/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125126235	C C	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0219 a0001c0001t0003g0219	1	364	0.0028	c.130 others(9): Show c.1309+1211C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	12/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125126471	C C	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02896.hp2 HG01175.hp2 HG02896.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0025 a0001c0001 a0002c0025	a0001c0001t0001 a0002c0025t0001 a0001c0001t0001 a0002c0025t0001	a0001c0001t0001g0287 a0002c0025t0001g0255 a0001c0001t0001g0287 a0002c0025t0001g0255	2	364	0.0055	c.130 others(9): Show c.1309+1447C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	12/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125126562	T T	C C	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0322 a0001c0001t0002g0322	1	364	0.0028	c.130 others(9): Show c.1309+1538T>C		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	12/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125126725	G G	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00544.hp1 others(147): Show HG00140.hp2 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01258.hp1 HG01258.hp2 HG01433.hp1 HG01496.hp2 HG01517.hp2 HG01928.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03516.hp2 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp2 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18949.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18962.hp1 NA18964.hp2 NA18966.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18992.hp1 NA18997.hp1 NA18999.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19055.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19078.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19087.hp1 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0006 a0007 a0009	a0001c0001 a0001c0003 a0001c0004 others(14): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0001c0009 a0001c0012 a0001c0017 a0001c0020 a0002c0002 a0002c0011 a0002c0021 a0002c0025 a0003c0019 a0005c0014 a0006c0013 a0007c0016 a0009c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0003t0001 a0001c0003t0004 a0001c0004t0001 a0001c0004t0004 a0001c0008t0001 a0001c0008t0002 a0001c0009t0001 a0001c0012t0004 a0001c0017t0002 a0001c0020t0002 a0002c0002t0001 a0002c0002t0002 a0002c0011t0001 a0002c0021t0001 a0002c0025t0001 a0003c0019t0001 a0005c0014t0001 a0006c0013t0001 a0007c0016t0001 a0009c0024t0001	a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0013 others(144): Show a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0028 a0001c0001t0001g0039 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0077 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0169 a0001c0001t0001g0196 a0001c0001t0001g0203 a0001c0001t0001g0251 a0001c0001t0001g0287 a0001c0001t0001g0331 a0001c0001t0001g0334 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0002g0002 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0101 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0193 a0001c0001t0002g0195 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0223 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0240 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0286 a0001c0001t0002g0293 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0316 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0344 a0001c0001t0002g0347 a0001c0001t0003g0041 a0001c0001t0003g0179 a0001c0001t0003g0288 a0001c0001t0003g0290 a0001c0001t0003g0292 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0313 a0001c0001t0003g0318 a0001c0001t0003g0320 a0001c0001t0003g0324 a0001c0001t0003g0330 a0001c0001t0010g0194 a0001c0003t0001g0053 a0001c0003t0001g0215 a0001c0003t0001g0354 a0001c0003t0001g0355 a0001c0003t0004g0083 a0001c0004t0001g0212 a0001c0004t0001g0213 a0001c0004t0004g0098 a0001c0004t0004g0167 a0001c0004t0004g0209 a0001c0004t0004g0237 a0001c0004t0004g0241 a0001c0004t0004g0242 a0001c0004t0004g0243 a0001c0004t0004g0245 a0001c0004t0004g0246 a0001c0004t0004g0249 a0001c0004t0004g0250 a0001c0004t0004g0254 a0001c0004t0004g0328 a0001c0004t0004g0341 a0001c0008t0001g0211 a0001c0008t0002g0238 a0001c0009t0001g0348 a0001c0009t0001g0349 a0001c0012t0004g0244 a0001c0017t0002g0204 a0001c0020t0002g0173 a0002c0002t0001g0004 a0002c0002t0001g0075 a0002c0002t0001g0264 a0002c0002t0002g0125 a0002c0002t0002g0359 a0002c0011t0001g0014 a0002c0021t0001g0026 a0002c0025t0001g0255 a0003c0019t0001g0184 a0005c0014t0001g0339 a0006c0013t0001g0350 a0007c0016t0001g0032 a0009c0024t0001g0263	150	364	0.4121	c.131 others(9): Show c.1310-1436G>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	12/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125126738	C C	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00621.hp1 HG00639.hp2 others(30): Show HG00597.hp1 HG00621.hp1 HG00639.hp2 HG00733.hp1 HG00741.hp1 HG01081.hp1 HG01099.hp2 HG01884.hp1 HG01891.hp1 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02155.hp1 HG02451.hp1 HG02486.hp2 HG02572.hp1 HG02723.hp2 HG02922.hp1 HG03927.hp2 NA18942.hp2 NA18962.hp2 NA18971.hp1 NA18986.hp1 NA19011.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19079.hp2 NA19082.hp1 NA19084.hp1 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0005 others(1): Show a0001c0001 a0001c0003 a0002c0005 a0002c0026	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0009 a0002c0005t0001 a0002c0026t0001	a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0109 others(30): Show a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0109 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0340 a0001c0001t0002g0321 a0001c0003t0001g0168 a0001c0003t0001g0210 a0001c0003t0001g0214 a0001c0003t0001g0215 a0001c0003t0001g0216 a0001c0003t0001g0217 a0001c0003t0001g0221 a0001c0003t0001g0222 a0001c0003t0001g0225 a0001c0003t0001g0226 a0001c0003t0001g0234 a0001c0003t0001g0235 a0001c0003t0001g0236 a0001c0003t0001g0256 a0001c0003t0001g0262 a0001c0003t0001g0338 a0001c0003t0001g0342 a0001c0003t0001g0353 a0001c0003t0009g0189 a0002c0005t0001g0015 a0002c0005t0001g0020 a0002c0005t0001g0021 a0002c0005t0001g0023 a0002c0005t0001g0024 a0002c0005t0001g0025 a0002c0026t0001g0145	33	364	0.0907	c.131 others(9): Show c.1310-1423C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	12/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125126871	C C	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02280.hp1 HG03098.hp2 others(3): Show HG02145.hp1 HG02280.hp1 HG03098.hp2 HG03471.hp1 HG06807.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0001 a0002c0007t0001 a0002c0002t0001 a0002c0007t0001	a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0009 others(3): Show a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0009 a0002c0007t0001g0016 a0002c0007t0001g0017 a0002c0007t0001g0027	6	364	0.0165	c.131 others(9): Show c.1310-1290C>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	12/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125126872	C C	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02280.hp1 HG03098.hp2 others(3): Show HG02145.hp1 HG02280.hp1 HG03098.hp2 HG03471.hp1 HG06807.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0001 a0002c0007t0001 a0002c0002t0001 a0002c0007t0001	a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0009 others(3): Show a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0009 a0002c0007t0001g0016 a0002c0007t0001g0017 a0002c0007t0001g0027	6	364	0.0165	c.131 others(9): Show c.1310-1289C>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	12/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125126877	C C	T T	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18977.hp2 NA18989.hp2 others(2): Show NA18955.hp1 NA18977.hp2 NA18989.hp2 NA19007.hp1 NA19055.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0237 a0001c0004t0004g0242 a0001c0004t0004g0243 others(2): Show a0001c0004t0004g0237 a0001c0004t0004g0242 a0001c0004t0004g0243 a0001c0004t0004g0250 a0001c0004t0004g0341	5	364	0.0137	c.131 others(9): Show c.1310-1284C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	12/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125127001	A A	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02809.hp1 HG03195.hp1 HG02630.hp1 HG02809.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0060 a0001c0001t0005g0072 a0001c0001t0005g0099 a0001c0001t0005g0060 a0001c0001t0005g0072 a0001c0001t0005g0099	3	364	0.0082	c.131 others(9): Show c.1310-1160A>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	12/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125127140	A A	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	364	0.0028	c.131 others(9): Show c.1310-1021A>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	12/17				chr12	TogoVar

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