Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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	125111297	A A	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	362	0.0028	c.916 others(8): Show c.916-3180A>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125111303	G G	A A	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18993.hp1 NA19012.hp2 NA18986.hp2 NA18993.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0303 a0001c0001t0001g0350 a0001c0001t0001g0287 a0001c0001t0001g0303 a0001c0001t0001g0350	3	362	0.0083	c.916 others(8): Show c.916-3174G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125111307	C C	T T	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0048 a0001c0001t0005g0048	1	362	0.0028	c.916 others(8): Show c.916-3170C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125111386	T T	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0353 a0001c0003t0001g0353	1	362	0.0028	c.916 others(8): Show c.916-3091T>C		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125111587	T T	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	362	0.0028	c.916 others(8): Show c.916-2890T>C		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125111794	C C	T T	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0128 a0002c0002t0001g0128	1	362	0.0028	c.916 others(8): Show c.916-2683C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125111830	A A	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02109.hp2 others(4): Show HG01884.hp1 HG01891.hp1 HG02109.hp2 HG02486.hp2 HG02572.hp1 HG02723.hp2 HG02922.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0338 a0002c0005t0001g0001 a0002c0005t0001g0017 others(3): Show a0001c0001t0001g0338 a0002c0005t0001g0001 a0002c0005t0001g0017 a0002c0005t0001g0023 a0002c0005t0001g0024 a0002c0005t0001g0025	7	362	0.0193	c.916 others(8): Show c.916-2647A>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125111842	G G	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	362	0.0028	c.916 others(8): Show c.916-2635G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125111883	C C	T T	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0133 a0002c0002t0001g0133	1	362	0.0028	c.916 others(8): Show c.916-2594C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125111912	G G	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00544.hp1 others(95): Show HG00140.hp2 HG00323.hp2 HG00544.hp1 HG00558.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 HG01981.hp1 HG02015.hp1 HG02040.hp1 HG02055.hp2 HG02071.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02155.hp2 HG02165.hp2 HG02559.hp2 HG02615.hp1 HG02683.hp2 HG02698.hp1 HG02738.hp1 HG02886.hp1 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03516.hp2 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG04199.hp2 HG04204.hp2 NA18522.hp2 NA18612.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 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19060.hp2 NA19065.hp2 NA19067.hp2 NA19078.hp2 NA19079.hp1 NA19081.hp1 NA19087.hp1 NA19240.hp1 NA20300.hp1 NA20752.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0008 a0001c0017 others(4): Show a0001c0001 a0001c0008 a0001c0017 a0001c0020 a0002c0002 a0002c0006 a0006c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0008t0002 a0001c0017t0002 a0001c0020t0002 a0002c0002t0002 a0002c0006t0001 a0006c0019t0001	a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0015 others(93): Show a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0038 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0198 a0001c0001t0001g0205 a0001c0001t0001g0249 a0001c0001t0001g0329 a0001c0001t0001g0332 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 a0001c0008t0002g0189 a0001c0017t0002g0206 a0001c0020t0002g0170 a0002c0002t0002g0357 a0002c0006t0001g0123 a0002c0006t0001g0124 a0002c0006t0001g0142 a0002c0006t0001g0149 a0006c0019t0001g0182	98	362	0.2707	c.916 others(8): Show c.916-2565G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125111958	C C	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02896.hp1 HG02897.hp1 HG02572.hp2 HG02896.hp1 HG02897.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0001 a0001c0001t0005 a0002c0002t0001	a0001c0001t0005g0103 a0001c0001t0005g0104 a0002c0002t0001g0013 a0001c0001t0005g0103 a0001c0001t0005g0104 a0002c0002t0001g0013	3	362	0.0083	c.916 others(8): Show c.916-2519C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125111966	G G	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02896.hp1 HG02897.hp1 HG02572.hp2 HG02896.hp1 HG02897.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0001 a0001c0001t0005 a0002c0002t0001	a0001c0001t0005g0103 a0001c0001t0005g0104 a0002c0002t0001g0013 a0001c0001t0005g0103 a0001c0001t0005g0104 a0002c0002t0001g0013	3	362	0.0083	c.916 others(8): Show c.916-2511G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125112205	T T	C C	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0328 a0001c0001t0003g0328	1	362	0.0028	c.916 others(8): Show c.916-2272T>C		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125112322	C C	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp2 HG02559.hp1 others(1): Show HG02055.hp1 HG02280.hp2 HG02559.hp1 NA19240.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0016 a0001c0001 a0010c0016	a0001c0001t0001 a0010c0016t0001 a0001c0001t0001 a0010c0016t0001	a0001c0001t0001g0079 a0001c0001t0001g0354 a0001c0001t0001g0355 others(1): Show a0001c0001t0001g0079 a0001c0001t0001g0354 a0001c0001t0001g0355 a0010c0016t0001g0032	4	362	0.0110	c.916 others(8): Show c.916-2155C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125112530	A A	G G	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0173 a0001c0001t0002g0173	1	362	0.0028	c.916 others(8): Show c.916-1947A>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125112638	C C	T T	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0173 a0001c0001t0002g0173	1	362	0.0028	c.916 others(8): Show c.916-1839C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125112845	A A	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp2 HG02559.hp1 others(4): Show HG02055.hp1 HG02280.hp2 HG02559.hp1 HG02717.hp1 HG02895.hp2 HG02897.hp2 NA19240.hp2	a0001 a0005 a0010 a0001 a0005 a0010	a0001c0001 a0001c0009 a0005c0013 others(1): Show a0001c0001 a0001c0009 a0005c0013 a0010c0016	a0001c0001t0001 a0001c0009t0001 a0005c0013t0001 others(1): Show a0001c0001t0001 a0001c0009t0001 a0005c0013t0001 a0010c0016t0001	a0001c0001t0001g0079 a0001c0001t0001g0354 a0001c0001t0001g0355 others(4): Show a0001c0001t0001g0079 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0009t0001g0346 a0001c0009t0001g0347 a0005c0013t0001g0348 a0010c0016t0001g0032	7	362	0.0193	c.916 others(8): Show c.916-1632A>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125112898	C C	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02723.hp1 HG02809.hp2 others(2): Show HG01243.hp2 HG02723.hp1 HG02809.hp2 NA18906.hp1 NA20129.hp1	a0002 a0004 a0007 a0002 a0004 a0007	a0002c0002 a0004c0014 a0007c0024 a0002c0002 a0004c0014 a0007c0024	a0002c0002t0001 a0004c0014t0001 a0007c0024t0001 a0002c0002t0001 a0004c0014t0001 a0007c0024t0001	a0002c0002t0001g0006 a0002c0002t0001g0262 a0004c0014t0001g0337 others(1): Show a0002c0002t0001g0006 a0002c0002t0001g0262 a0004c0014t0001g0337 a0007c0024t0001g0261	5	362	0.0138	c.916 others(8): Show c.916-1579C>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125112931	C C	T T	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0271 a0002c0002t0001g0272 a0002c0002t0001g0271 a0002c0002t0001g0272	2	362	0.0055	c.916 others(8): Show c.916-1546C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125112932	G G	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	362	0.0028	c.916 others(8): Show c.916-1545G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125113129	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	a0001c0015t0001g0063 a0002c0010t0001g0020 a0001c0015t0001g0063 a0002c0010t0001g0020	2	362	0.0055	c.916 others(8): Show c.916-1348G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125113306	C C	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00733.hp1 HG00741.hp1 others(3): Show HG00639.hp2 HG00733.hp1 HG00741.hp1 HG01081.hp1 HG01099.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0109 others(3): Show a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0109 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0006g0092	6	362	0.0166	c.916 others(8): Show c.916-1171C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125113395	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	a0001c0001t0001g0285 a0002c0025t0001g0253 a0001c0001t0001g0285 a0002c0025t0001g0253	2	362	0.0055	c.916 others(8): Show c.916-1082G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125113623	G G	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02723.hp1 HG02809.hp2 others(2): Show HG01243.hp2 HG02723.hp1 HG02809.hp2 NA18906.hp1 NA20129.hp1	a0002 a0004 a0007 a0002 a0004 a0007	a0002c0002 a0004c0014 a0007c0024 a0002c0002 a0004c0014 a0007c0024	a0002c0002t0001 a0004c0014t0001 a0007c0024t0001 a0002c0002t0001 a0004c0014t0001 a0007c0024t0001	a0002c0002t0001g0006 a0002c0002t0001g0262 a0004c0014t0001g0337 others(1): Show a0002c0002t0001g0006 a0002c0002t0001g0262 a0004c0014t0001g0337 a0007c0024t0001g0261	5	362	0.0138	c.916 others(7): Show c.916-854G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125113693	A A	G G	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	a0001c0001t0001g0012 a0001c0001t0001g0162 a0001c0001t0001g0163 others(1): Show a0001c0001t0001g0012 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164	4	362	0.0110	c.916 others(7): Show c.916-784A>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125113741	C C	T T	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	362	0.0028	c.916 others(7): Show c.916-736C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125113843	C C	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01243.hp2 HG02055.hp2 others(14): Show HG00733.hp2 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(12): Show a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0002c0002t0001g0006 a0002c0002t0001g0262 a0004c0014t0001g0337 a0007c0024t0001g0261	17	362	0.0470	c.916 others(7): Show c.916-634C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125113910	C C	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02559.hp2 HG02615.hp1 others(8): Show HG02055.hp2 HG02559.hp2 HG02615.hp1 HG02886.hp1 HG03130.hp2 HG03225.hp1 HG03516.hp2 HG03579.hp2 NA18522.hp2 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0015 others(7): Show a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0157 a0001c0001t0001g0158	11	362	0.0304	c.916 others(7): Show c.916-567C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125113992	C C	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0001 a0004c0014t0001	a0004c0014t0001g0337 a0004c0014t0001g0337	1	362	0.0028	c.916 others(7): Show c.916-485C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125114058	G G	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00544.hp1 others(131): 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 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.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 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03704.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 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 NA19087.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0006 a0007 a0010	a0001c0001 a0001c0003 a0001c0008 others(13): Show a0001c0001 a0001c0003 a0001c0008 a0001c0009 a0001c0017 a0001c0020 a0002c0002 a0002c0005 a0002c0006 a0002c0007 a0002c0025 a0004c0014 a0005c0013 a0006c0019 a0007c0024 a0010c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0003t0001 a0001c0008t0002 a0001c0009t0001 a0001c0017t0002 a0001c0020t0002 a0002c0002t0001 a0002c0002t0002 a0002c0005t0001 a0002c0006t0001 a0002c0007t0001 a0002c0025t0001 a0004c0014t0001 a0005c0013t0001 a0006c0019t0001 a0007c0024t0001 a0010c0016t0001	a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0014 others(127): Show a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0038 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0109 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0198 a0001c0001t0001g0249 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0285 a0001c0001t0001g0329 a0001c0001t0001g0332 a0001c0001t0001g0338 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 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0195 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 a0001c0001t0006g0092 a0001c0001t0010g0196 a0001c0003t0001g0072 a0001c0003t0001g0352 a0001c0003t0001g0353 a0001c0008t0002g0189 a0001c0009t0001g0346 a0001c0009t0001g0347 a0001c0017t0002g0206 a0001c0020t0002g0170 a0002c0002t0001g0006 a0002c0002t0001g0069 a0002c0002t0001g0262 a0002c0002t0002g0357 a0002c0005t0001g0001 a0002c0005t0001g0017 a0002c0005t0001g0023 a0002c0005t0001g0024 a0002c0005t0001g0025 a0002c0006t0001g0123 a0002c0006t0001g0124 a0002c0006t0001g0142 a0002c0006t0001g0149 a0002c0007t0001g0019 a0002c0007t0001g0027 a0002c0025t0001g0253 a0004c0014t0001g0337 a0005c0013t0001g0348 a0006c0019t0001g0182 a0007c0024t0001g0261 a0010c0016t0001g0032	134	362	0.3702	c.916 others(7): Show c.916-419G>C		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125114068	G G	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02109.hp2 others(4): Show HG01884.hp1 HG01891.hp1 HG02109.hp2 HG02486.hp2 HG02572.hp1 HG02723.hp2 HG02922.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0338 a0002c0005t0001g0001 a0002c0005t0001g0017 others(3): Show a0001c0001t0001g0338 a0002c0005t0001g0001 a0002c0005t0001g0017 a0002c0005t0001g0023 a0002c0005t0001g0024 a0002c0005t0001g0025	7	362	0.0193	c.916 others(7): Show c.916-409G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125114185	G G	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0069 a0002c0002t0001g0069	1	362	0.0028	c.916 others(7): Show c.916-292G>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125114266	C C	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0195 a0001c0001t0002g0195	1	362	0.0028	c.916 others(7): Show c.916-211C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125114291	A A	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	362	0.0028	c.916 others(7): Show c.916-186A>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125114382	C C	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	362	0.0028	c.916 others(6): Show c.916-95C>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125114402	G G	A A	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	362	0.0028	c.916 others(6): Show c.916-75G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125114478	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18939.hp2 NA18939.hp2	a0008 a0008	a0008c0023 a0008c0023	a0008c0023t0003 a0008c0023t0003	a0008c0023t0003g0120 a0008c0023t0003g0120	1	362	0.0028	c.917 others(3): Show c.917G>A	p.Gly others(6): Show p.Gly306Asp	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/18	1067/3256	917/2019	306/672	chr12	TogoVar
AACS_chr12_125060435_125148316	125114574	G G	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0021 a0002c0021	a0002c0021t0001 a0002c0021t0001	a0002c0021t0001g0026 a0002c0021t0001g0026	1	362	0.0028	c.996 others(6): Show c.996+17G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125114588	T T	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01243.hp2 HG02055.hp2 others(14): Show HG00733.hp2 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(12): Show a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0002c0002t0001g0006 a0002c0002t0001g0262 a0004c0014t0001g0337 a0007c0024t0001g0261	17	362	0.0470	c.996 others(6): Show c.996+31T>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125114594	A A	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0048 a0001c0001t0005g0048	1	362	0.0028	c.996 others(6): Show c.996+37A>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125114639	A A	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00733.hp1 HG00733.hp2 others(29): Show HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp1 HG01081.hp1 HG01099.hp2 HG01884.hp1 HG01891.hp1 HG02055.hp2 HG02109.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02723.hp2 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG03130.hp2 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA19240.hp1 NA20300.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0002c0007 a0001c0001 a0002c0005 a0002c0007	a0001c0001t0001 a0001c0001t0006 a0002c0005t0001 others(1): Show a0001c0001t0001 a0001c0001t0006 a0002c0005t0001 a0002c0007t0001	a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0014 others(27): Show a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0109 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0338 a0001c0001t0006g0092 a0002c0005t0001g0001 a0002c0005t0001g0017 a0002c0005t0001g0023 a0002c0005t0001g0024 a0002c0005t0001g0025 a0002c0007t0001g0019 a0002c0007t0001g0027	32	362	0.0884	c.996 others(6): Show c.996+82A>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125114654	G G	A A	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03209.hp2 HG03688.hp2 HG02683.hp2 HG03209.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0067 a0001c0001t0002g0187 a0001c0001t0002g0049 a0001c0001t0002g0067 a0001c0001t0002g0187	3	362	0.0083	c.996 others(6): Show c.996+97G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125114765	G G	A A	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0199 a0001c0001t0006g0199	1	362	0.0028	c.996 others(7): Show c.996+208G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125114809	G G	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0298 a0001c0001t0001g0298	1	362	0.0028	c.996 others(7): Show c.996+252G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125114866	G G	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00733.hp1 HG00733.hp2 others(15): Show HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp1 HG01081.hp1 HG01884.hp1 HG01891.hp1 HG02109.hp2 HG02486.hp2 HG02572.hp1 HG02723.hp2 HG02922.hp1 HG02922.hp2 HG03471.hp1 HG03471.hp2 HG03579.hp1 HG06807.hp1 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0002c0007 a0001c0001 a0002c0005 a0002c0007	a0001c0001t0001 a0002c0005t0001 a0002c0007t0001 a0001c0001t0001 a0002c0005t0001 a0002c0007t0001	a0001c0001t0001g0012 a0001c0001t0001g0091 a0001c0001t0001g0093 others(14): Show a0001c0001t0001g0012 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0338 a0002c0005t0001g0001 a0002c0005t0001g0017 a0002c0005t0001g0023 a0002c0005t0001g0024 a0002c0005t0001g0025 a0002c0007t0001g0019 a0002c0007t0001g0027	18	362	0.0497	c.996 others(7): Show c.996+309G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125114877	C C	T T	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	a0001c0001t0001g0012 a0001c0001t0001g0162 a0001c0001t0001g0163 others(3): Show a0001c0001t0001g0012 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0002c0007t0001g0019 a0002c0007t0001g0027	6	362	0.0166	c.996 others(7): Show c.996+320C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125114941	C C	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	362	0.0028	c.996 others(7): Show c.996+384C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125114963	G G	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	362	0.0028	c.996 others(7): Show c.996+406G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125115016	A A	G G	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.996 others(7): Show c.996+459A>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125115029	G G	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp2 HG02559.hp1 others(4): Show HG02055.hp1 HG02280.hp2 HG02559.hp1 HG02717.hp1 HG02895.hp2 HG02897.hp2 NA19240.hp2	a0001 a0005 a0010 a0001 a0005 a0010	a0001c0001 a0001c0009 a0005c0013 others(1): Show a0001c0001 a0001c0009 a0005c0013 a0010c0016	a0001c0001t0001 a0001c0009t0001 a0005c0013t0001 others(1): Show a0001c0001t0001 a0001c0009t0001 a0005c0013t0001 a0010c0016t0001	a0001c0001t0001g0079 a0001c0001t0001g0354 a0001c0001t0001g0355 others(4): Show a0001c0001t0001g0079 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0009t0001g0346 a0001c0009t0001g0347 a0005c0013t0001g0348 a0010c0016t0001g0032	7	362	0.0193	c.996 others(7): Show c.996+472G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/17				chr12	TogoVar

Search by Variant

Search

Search Results