Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	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	125124437	C C	T T	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	362	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	362	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	a0001c0001t0003g0227 a0001c0001t0003g0227	1	362	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	a0001c0001t0001g0192 a0001c0001t0001g0209 a0001c0001t0001g0240 others(2): Show a0001c0001t0001g0192 a0001c0001t0001g0209 a0001c0001t0001g0240 a0001c0001t0001g0302 a0001c0001t0001g0341	5	362	0.0138	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	a0006 a0006	a0006c0019 a0006c0019	a0006c0019t0001 a0006c0019t0001	a0006c0019t0001g0182 a0006c0019t0001g0182	1	362	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	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0003 a0009c0018t0003	a0009c0018t0003g0278 a0009c0018t0003g0278	1	362	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	a0002c0011t0001g0016 a0002c0011t0001g0016	1	362	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	a0001c0004t0004g0326 a0001c0004t0004g0326	1	362	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	a0002c0002t0001g0008 a0002c0002t0001g0008	1	362	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	a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0331 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0331	3	362	0.0083	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(24): Show a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0159 a0001c0003t0001g0072 a0001c0003t0001g0352 a0001c0003t0001g0353 a0001c0003t0004g0081 a0001c0004t0001g0219 a0001c0004t0001g0220 a0001c0004t0004g0004 a0001c0004t0004g0098 a0001c0004t0004g0183 a0001c0004t0004g0211 a0001c0004t0004g0214 a0001c0004t0004g0215 a0001c0004t0004g0216 a0001c0004t0004g0229 a0001c0004t0004g0233 a0001c0004t0004g0238 a0001c0004t0004g0252 a0001c0004t0004g0326 a0001c0004t0004g0339 a0001c0012t0004g0218 a0002c0011t0001g0016 a0002c0021t0001g0026	28	362	0.0773	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	a0001c0001t0002g0319 a0001c0001t0002g0319	1	362	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	a0002c0002t0001g0122 a0002c0002t0001g0122	1	362	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	362	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	362	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	a0001c0015t0001g0063 a0002c0010t0001g0020 a0001c0015t0001g0063 a0002c0010t0001g0020	2	362	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	362	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	a0001c0003t0001g0260 a0001c0003t0001g0260	1	362	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 a0009 a0001 a0009	a0001c0001 a0009c0018 a0001c0001 a0009c0018	a0001c0001t0003 a0001c0001t0008 a0009c0018t0003 a0001c0001t0003 a0001c0001t0008 a0009c0018t0003	a0001c0001t0003g0041 a0001c0001t0003g0044 a0001c0001t0003g0176 others(19): Show a0001c0001t0003g0041 a0001c0001t0003g0044 a0001c0001t0003g0176 a0001c0001t0003g0274 a0001c0001t0003g0286 a0001c0001t0003g0288 a0001c0001t0003g0290 a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0003g0318 a0001c0001t0003g0322 a0001c0001t0003g0324 a0001c0001t0003g0328 a0001c0001t0008g0210 a0009c0018t0003g0278	22	362	0.0608	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	a0001c0001t0003g0227 a0001c0001t0003g0227	1	362	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	a0001c0001t0001g0285 a0002c0025t0001g0253 a0001c0001t0001g0285 a0002c0025t0001g0253	2	362	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	a0001c0001t0002g0320 a0001c0001t0002g0320	1	362	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 a0004 others(4): Show a0001 a0002 a0004 a0005 a0006 a0007 a0010	a0001c0001 a0001c0003 a0001c0004 others(14): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0001c0009 a0001c0012 a0001c0017 a0001c0020 a0002c0002 a0002c0011 a0002c0021 a0002c0025 a0004c0014 a0005c0013 a0006c0019 a0007c0024 a0010c0016	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 a0004c0014t0001 a0005c0013t0001 a0006c0019t0001 a0007c0024t0001 a0010c0016t0001	a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0015 others(143): Show a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0038 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0198 a0001c0001t0001g0205 a0001c0001t0001g0249 a0001c0001t0001g0285 a0001c0001t0001g0329 a0001c0001t0001g0332 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0002g0003 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0101 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0213 a0001c0001t0002g0226 a0001c0001t0002g0228 a0001c0001t0002g0232 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0284 a0001c0001t0002g0291 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0314 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0342 a0001c0001t0002g0345 a0001c0001t0003g0041 a0001c0001t0003g0176 a0001c0001t0003g0286 a0001c0001t0003g0288 a0001c0001t0003g0290 a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0311 a0001c0001t0003g0316 a0001c0001t0003g0318 a0001c0001t0003g0322 a0001c0001t0003g0328 a0001c0001t0010g0196 a0001c0003t0001g0072 a0001c0003t0001g0222 a0001c0003t0001g0352 a0001c0003t0001g0353 a0001c0003t0004g0081 a0001c0004t0001g0219 a0001c0004t0001g0220 a0001c0004t0004g0004 a0001c0004t0004g0098 a0001c0004t0004g0183 a0001c0004t0004g0211 a0001c0004t0004g0214 a0001c0004t0004g0215 a0001c0004t0004g0216 a0001c0004t0004g0229 a0001c0004t0004g0233 a0001c0004t0004g0238 a0001c0004t0004g0252 a0001c0004t0004g0326 a0001c0004t0004g0339 a0001c0008t0001g0217 a0001c0008t0002g0189 a0001c0009t0001g0346 a0001c0009t0001g0347 a0001c0012t0004g0218 a0001c0017t0002g0206 a0001c0020t0002g0170 a0002c0002t0001g0006 a0002c0002t0001g0069 a0002c0002t0001g0262 a0002c0002t0002g0126 a0002c0002t0002g0357 a0002c0011t0001g0016 a0002c0021t0001g0026 a0002c0025t0001g0253 a0004c0014t0001g0337 a0005c0013t0001g0348 a0006c0019t0001g0182 a0007c0024t0001g0261 a0010c0016t0001g0032	150	362	0.4144	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(29): Show a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0109 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0338 a0001c0001t0002g0319 a0001c0003t0001g0178 a0001c0003t0001g0212 a0001c0003t0001g0221 a0001c0003t0001g0222 a0001c0003t0001g0223 a0001c0003t0001g0224 a0001c0003t0001g0225 a0001c0003t0001g0230 a0001c0003t0001g0231 a0001c0003t0001g0235 a0001c0003t0001g0239 a0001c0003t0001g0247 a0001c0003t0001g0248 a0001c0003t0001g0254 a0001c0003t0001g0260 a0001c0003t0001g0333 a0001c0003t0001g0340 a0001c0003t0001g0351 a0001c0003t0009g0190 a0002c0005t0001g0001 a0002c0005t0001g0017 a0002c0005t0001g0023 a0002c0005t0001g0024 a0002c0005t0001g0025 a0002c0026t0001g0141	33	362	0.0912	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	a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0011 others(3): Show a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0007t0001g0018 a0002c0007t0001g0019 a0002c0007t0001g0027	6	362	0.0166	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	a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0011 others(3): Show a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0007t0001g0018 a0002c0007t0001g0019 a0002c0007t0001g0027	6	362	0.0166	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	a0001c0004t0004g0004 a0001c0004t0004g0183 a0001c0004t0004g0215 others(1): Show a0001c0004t0004g0004 a0001c0004t0004g0183 a0001c0004t0004g0215 a0001c0004t0004g0339	5	362	0.0138	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	a0001c0001t0005g0051 a0001c0001t0005g0066 a0001c0001t0005g0099 a0001c0001t0005g0051 a0001c0001t0005g0066 a0001c0001t0005g0099	3	362	0.0083	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	a0001c0001t0001g0246 a0001c0001t0001g0246	1	362	0.0028	c.131 others(9): Show c.1310-1021A>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	12/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125127177	C C	T T	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03017.hp2 HG02735.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0257 a0001c0001t0001g0258	2	362	0.0055	c.131 others(8): Show c.1310-984C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	12/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125127223	G G	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0353 a0001c0003t0001g0353	1	362	0.0028	c.131 others(8): Show c.1310-938G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	12/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125127276	A A	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	362	0.0028	c.131 others(8): Show c.1310-885A>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	12/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125127341	G G	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03471.hp1 HG06807.hp1 HG02280.hp1 HG03471.hp1 HG06807.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0018 a0002c0007t0001g0019 a0002c0007t0001g0027 a0002c0007t0001g0018 a0002c0007t0001g0019 a0002c0007t0001g0027	3	362	0.0083	c.131 others(8): Show c.1310-820G>C		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	12/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125127551	T T	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02486.hp1 HG03471.hp1 others(1): Show HG02280.hp1 HG02486.hp1 HG03471.hp1 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0001 a0002c0007t0001 a0001c0001t0001 a0002c0007t0001	a0001c0001t0001g0078 a0002c0007t0001g0018 a0002c0007t0001g0019 others(1): Show a0001c0001t0001g0078 a0002c0007t0001g0018 a0002c0007t0001g0019 a0002c0007t0001g0027	4	362	0.0110	c.131 others(8): Show c.1310-610T>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	12/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125127952	A A	G G	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0221 a0001c0003t0001g0221	1	362	0.0028	c.131 others(8): Show c.1310-209A>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	12/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125128054	A A	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01361.hp1 HG01884.hp2 others(9): Show HG01243.hp1 HG01361.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 a0001c0001t0001g0255 a0002c0002t0001g0008 others(9): Show a0001c0001t0001g0097 a0001c0001t0001g0255 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0036 a0002c0002t0001g0125 a0002c0002t0001g0139 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0267 a0002c0002t0001g0269	12	362	0.0331	c.131 others(8): Show c.1310-107A>C		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	12/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125128071	T T	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0238 a0001c0004t0004g0238	1	362	0.0028	c.131 others(7): Show c.1310-90T>C		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	12/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125128124	T T	G G	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	362	0.0028	c.131 others(7): Show c.1310-37T>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	12/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125128174	C C	T T	synonymous_variant synonymous_variant	LOW	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0002 a0001c0017t0002	a0001c0017t0002g0206 a0001c0017t0002g0206	1	362	0.0028	c.132 others(4): Show c.1323C>T	p.Ile others(6): Show p.Ile441Ile	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	13/18	1473/3256	1323/2019	441/672	chr12	TogoVar
AACS_chr12_125060435_125148316	125128260	C C	T T	missense_variant missense_variant	MODERATE	NA19240.hp2 NA19240.hp2	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0001 a0010c0016t0001	a0010c0016t0001g0032 a0010c0016t0001g0032	1	362	0.0028	c.140 others(4): Show c.1409C>T	p.Ala others(6): Show p.Ala470Val	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	13/18	1559/3256	1409/2019	470/672	chr12	TogoVar
AACS_chr12_125060435_125148316	125128293	G G	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00544.hp1 others(117): 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 HG01106.hp2 HG01123.hp2 HG01168.hp2 HG01192.hp1 HG01258.hp1 HG01258.hp2 HG01433.hp1 HG01496.hp2 HG01517.hp2 HG01943.hp2 HG01975.hp1 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02451.hp2 HG02559.hp1 HG02615.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp2 NA18612.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 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 NA19055.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA19067.hp2 NA19078.hp2 NA19079.hp1 NA19081.hp1 NA19087.hp1 NA19240.hp2 NA20752.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0010	a0001c0001 a0001c0003 a0001c0004 others(11): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0001c0009 a0001c0012 a0001c0017 a0001c0020 a0002c0002 a0002c0011 a0002c0021 a0005c0013 a0006c0019 a0010c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0003t0001 a0001c0003t0004 a0001c0004t0001 a0001c0004t0004 a0001c0008t0002 a0001c0009t0001 a0001c0012t0004 a0001c0017t0002 a0001c0020t0002 a0002c0002t0002 a0002c0011t0001 a0002c0021t0001 a0005c0013t0001 a0006c0019t0001 a0010c0016t0001	a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0034 others(115): Show a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0079 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0198 a0001c0001t0001g0205 a0001c0001t0001g0249 a0001c0001t0001g0285 a0001c0001t0001g0329 a0001c0001t0001g0332 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0002g0003 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0101 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0213 a0001c0001t0002g0226 a0001c0001t0002g0228 a0001c0001t0002g0232 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0284 a0001c0001t0002g0291 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0314 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0342 a0001c0001t0002g0345 a0001c0001t0010g0196 a0001c0003t0001g0072 a0001c0003t0001g0352 a0001c0003t0001g0353 a0001c0003t0004g0081 a0001c0004t0001g0219 a0001c0004t0001g0220 a0001c0004t0004g0004 a0001c0004t0004g0098 a0001c0004t0004g0183 a0001c0004t0004g0211 a0001c0004t0004g0214 a0001c0004t0004g0215 a0001c0004t0004g0216 a0001c0004t0004g0229 a0001c0004t0004g0233 a0001c0004t0004g0238 a0001c0004t0004g0252 a0001c0004t0004g0326 a0001c0004t0004g0339 a0001c0008t0002g0189 a0001c0009t0001g0346 a0001c0009t0001g0347 a0001c0012t0004g0218 a0001c0017t0002g0206 a0001c0020t0002g0170 a0002c0002t0002g0126 a0002c0002t0002g0357 a0002c0011t0001g0016 a0002c0021t0001g0026 a0005c0013t0001g0348 a0006c0019t0001g0182 a0010c0016t0001g0032	120	362	0.3315	c.142 others(7): Show c.1423+19G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	13/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125128344	G G	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp2 HG01975.hp1 others(24): Show HG00544.hp2 HG00597.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(23): Show a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0003t0001g0072 a0001c0003t0001g0352 a0001c0003t0001g0353 a0001c0003t0004g0081 a0001c0004t0001g0219 a0001c0004t0001g0220 a0001c0004t0004g0004 a0001c0004t0004g0098 a0001c0004t0004g0183 a0001c0004t0004g0211 a0001c0004t0004g0214 a0001c0004t0004g0215 a0001c0004t0004g0216 a0001c0004t0004g0229 a0001c0004t0004g0233 a0001c0004t0004g0238 a0001c0004t0004g0252 a0001c0004t0004g0326 a0001c0004t0004g0339 a0001c0012t0004g0218 a0002c0011t0001g0016 a0002c0021t0001g0026	27	362	0.0746	c.142 others(7): Show c.1423+70G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	13/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125128380	T T	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	362	0.0028	c.142 others(8): Show c.1423+106T>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	13/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125128446	C C	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp2 HG01975.hp1 others(24): Show HG00544.hp2 HG00597.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(23): Show a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0003t0001g0072 a0001c0003t0001g0352 a0001c0003t0001g0353 a0001c0003t0004g0081 a0001c0004t0001g0219 a0001c0004t0001g0220 a0001c0004t0004g0004 a0001c0004t0004g0098 a0001c0004t0004g0183 a0001c0004t0004g0211 a0001c0004t0004g0214 a0001c0004t0004g0215 a0001c0004t0004g0216 a0001c0004t0004g0229 a0001c0004t0004g0233 a0001c0004t0004g0238 a0001c0004t0004g0252 a0001c0004t0004g0326 a0001c0004t0004g0339 a0001c0012t0004g0218 a0002c0011t0001g0016 a0002c0021t0001g0026	27	362	0.0746	c.142 others(8): Show c.1423+172C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	13/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125128525	G G	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03579.hp1 HG06807.hp2 HG02922.hp2 HG03579.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164	3	362	0.0083	c.142 others(8): Show c.1423+251G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	13/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125128604	A A	G G	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01243.hp1 HG01361.hp1 others(16): Show HG01175.hp2 HG01243.hp1 HG01361.hp1 HG01884.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02647.hp2 HG02922.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG06807.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0015 a0002c0002 others(2): Show a0001c0001 a0001c0015 a0002c0002 a0002c0010 a0002c0025	a0001c0001t0001 a0001c0015t0001 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0015t0001 a0002c0002t0001 a0002c0010t0001 a0002c0025t0001	a0001c0001t0001g0012 a0001c0001t0001g0097 a0001c0001t0001g0162 others(16): Show a0001c0001t0001g0012 a0001c0001t0001g0097 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0255 a0001c0015t0001g0063 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0036 a0002c0002t0001g0125 a0002c0002t0001g0139 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0267 a0002c0002t0001g0269 a0002c0010t0001g0020 a0002c0025t0001g0253	19	362	0.0525	c.142 others(8): Show c.1423+330A>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	13/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125128612	A A	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp2 HG02559.hp2 others(13): Show HG01243.hp2 HG02055.hp2 HG02559.hp2 HG02615.hp1 HG02723.hp1 HG02809.hp2 HG02886.hp1 HG03130.hp2 HG03225.hp1 HG03516.hp2 HG03579.hp2 NA18522.hp2 NA18906.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0002c0002 a0004c0014 others(1): Show a0001c0001 a0002c0002 a0004c0014 a0007c0024	a0001c0001t0001 a0002c0002t0001 a0004c0014t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0004c0014t0001 a0007c0024t0001	a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0015 others(11): Show a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0157 a0001c0001t0001g0158 a0002c0002t0001g0006 a0002c0002t0001g0262 a0004c0014t0001g0337 a0007c0024t0001g0261	16	362	0.0442	c.142 others(8): Show c.1423+338A>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	13/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125128693	C C	A A	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0156	1	362	0.0028	c.142 others(8): Show c.1423+419C>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	13/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125128745	C C	T T	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0320 a0001c0001t0002g0320	1	362	0.0028	c.142 others(8): Show c.1423+471C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	13/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125128883	C C	A A	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0001 a0010c0016t0001	a0010c0016t0001g0032 a0010c0016t0001g0032	1	362	0.0028	c.142 others(8): Show c.1424-452C>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	13/17				chr12	TogoVar

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