JoGo: Joint Open Genome and Omics Platform

Haplotype Detail Info [AASDH_chr4_56333290_56392491>a0001c0001t0001g0157]

geneid	132949
ensemblid	ENSG00000157426.14
hgncid	23993
symbol	AASDH
name	aminoadipate-semialdehyde dehydrogenase
refseq_nuc	NM_181806.4
refseq_prot	NP_861522.2
ensembl_nuc	ENST00000205214.11
ensembl_prot	ENSP00000205214.6
mane_status	MANE Select
chr	chr4
start	56338290
end	56387491
strand	-
ver	v1.2
region	chr4:56338290-56387491
region5000	chr4:56333290-56392491
regionname0	AASDH_chr4_56338290_56387491
regionname5000	AASDH_chr4_56333290_56392491

chr:pos	ref	alt	af	annotation	impact	samples	AHAPIDS	ACHAPIDS	ACTHAPIDS	ACTGHAPIDS	ac	an	len	genename	geneid	featuretype	featureid	transcript_biotype	rank	hgvs_c	hgvs_p	cdna_pos_length	cds_pos_length	aa_pos_length	distance	status

chr:pos	ref	alt	af	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	len	genename	geneid	featuretype	featureid	transcript_biotype	rank	hgvs_c	hgvs_p	cdna_pos_length	cds_pos_length	aa_pos_length	distance	status

chr:pos	ref	alt	af	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	len	genename	geneid	featuretype	featureid	transcript_biotype	rank	hgvs_c	hgvs_p	cdna_pos_length	cds_pos_length	aa_pos_length	distance	status

chr:pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	genename	geneid	featuretype	featureid	transcript_biotype	rank	hgvs_c
chr4:56347040	T T	TA TA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01175.hp1 HG01884.hp1 others(15): Show HG00423.hp2 HG01175.hp1 HG01884.hp1 HG02129.hp2 HG02145.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02809.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp1 HG03225.hp1 HG03453.hp1 HG03516.hp2 NA18978.hp1 NA18984.hp1 NA19043.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0010 a0002c0002 others(3): Show a0001c0001 a0001c0010 a0002c0002 a0003c0003 a0004c0004 a0005c0007	a0001c0001t0001 a0001c0010t0001 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0010t0001 a0002c0002t0001 a0002c0002t0007 a0003c0003t0001 a0004c0004t0001 a0005c0007t0003	a0001c0001t0001g0157 a0001c0001t0001g0166 a0001c0010t0001g0280 others(15): Show a0001c0001t0001g0157 a0001c0001t0001g0166 a0001c0010t0001g0280 a0001c0010t0001g0281 a0002c0002t0001g0191 a0002c0002t0001g0199 a0002c0002t0007g0330 a0003c0003t0001g0220 a0004c0004t0001g0138 a0004c0004t0001g0222 a0005c0007t0003g0033 a0005c0007t0003g0034 a0005c0007t0003g0035 a0005c0007t0003g0036 a0005c0007t0003g0037 a0005c0007t0003g0038 a0005c0007t0003g0039 a0005c0007t0003g0040	18	382	0.0471	1	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	11/14	c.2489-1751dupT
chr4:56371986	C C	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01175.hp1 HG00639.hp2 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0157 a0001c0001t0001g0062 a0001c0001t0001g0157	2	382	0.0052	0	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	4/14	c.669-343G>T
chr4:56378893	T T	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(262): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp2 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp2 NA19075.hp2 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0012 a0013 a0017 a0018	a0001c0001 a0002c0002 a0002c0006 others(14): Show a0001c0001 a0002c0002 a0002c0006 a0002c0024 a0003c0003 a0004c0004 a0004c0025 a0006c0009 a0006c0020 a0007c0008 a0008c0011 a0009c0012 a0010c0013 a0012c0015 a0013c0017 a0017c0022 a0018c0023	a0001c0001t0001 a0002c0002t0001 a0002c0006t0001 others(16): Show a0001c0001t0001 a0002c0002t0001 a0002c0006t0001 a0002c0024t0001 a0003c0003t0001 a0003c0003t0002 a0004c0004t0001 a0004c0004t0006 a0004c0025t0001 a0006c0009t0004 a0006c0020t0001 a0007c0008t0001 a0008c0011t0002 a0009c0012t0001 a0010c0013t0001 a0012c0015t0001 a0013c0017t0001 a0017c0022t0001 a0018c0023t0002	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(224): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0168 a0002c0002t0001g0002 a0002c0002t0001g0023 a0002c0002t0001g0112 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0207 a0002c0002t0001g0210 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0217 a0002c0002t0001g0219 a0002c0002t0001g0227 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0006t0001g0024 a0002c0006t0001g0188 a0002c0006t0001g0228 a0002c0006t0001g0229 a0002c0006t0001g0230 a0002c0006t0001g0231 a0002c0006t0001g0236 a0002c0006t0001g0237 a0002c0024t0001g0234 a0003c0003t0001g0220 a0003c0003t0002g0003 a0003c0003t0002g0010 a0003c0003t0002g0025 a0003c0003t0002g0026 a0003c0003t0002g0027 a0003c0003t0002g0042 a0003c0003t0002g0044 a0003c0003t0002g0045 a0003c0003t0002g0046 a0003c0003t0002g0047 a0003c0003t0002g0048 a0003c0003t0002g0049 a0003c0003t0002g0052 a0003c0003t0002g0238 a0003c0003t0002g0239 a0003c0003t0002g0240 a0003c0003t0002g0241 a0003c0003t0002g0243 a0003c0003t0002g0244 a0003c0003t0002g0245 a0003c0003t0002g0246 a0003c0003t0002g0247 a0003c0003t0002g0248 a0003c0003t0002g0249 a0003c0003t0002g0250 a0003c0003t0002g0251 a0003c0003t0002g0252 a0003c0003t0002g0253 a0003c0003t0002g0254 a0003c0003t0002g0255 a0003c0003t0002g0256 a0003c0003t0002g0257 a0003c0003t0002g0258 a0003c0003t0002g0259 a0003c0003t0002g0260 a0003c0003t0002g0261 a0003c0003t0002g0262 a0003c0003t0002g0263 a0003c0003t0002g0264 a0003c0003t0002g0265 a0003c0003t0002g0266 a0003c0003t0002g0267 a0003c0003t0002g0268 a0003c0003t0002g0269 a0003c0003t0002g0270 a0003c0003t0002g0271 a0003c0003t0002g0272 a0003c0003t0002g0273 a0003c0003t0002g0274 a0003c0003t0002g0275 a0003c0003t0002g0276 a0003c0003t0002g0277 a0003c0003t0002g0279 a0003c0003t0002g0286 a0003c0003t0002g0287 a0003c0003t0002g0288 a0003c0003t0002g0289 a0003c0003t0002g0290 a0003c0003t0002g0291 a0003c0003t0002g0292 a0003c0003t0002g0293 a0003c0003t0002g0294 a0003c0003t0002g0295 a0003c0003t0002g0296 a0003c0003t0002g0297 a0003c0003t0002g0327 a0003c0003t0002g0328 a0004c0004t0001g0005 a0004c0004t0001g0008 a0004c0004t0001g0020 a0004c0004t0001g0021 a0004c0004t0001g0022 a0004c0004t0001g0041 a0004c0004t0001g0127 a0004c0004t0001g0128 a0004c0004t0001g0129 a0004c0004t0001g0130 a0004c0004t0001g0131 a0004c0004t0001g0132 a0004c0004t0001g0133 a0004c0004t0001g0134 a0004c0004t0001g0135 a0004c0004t0001g0136 a0004c0004t0001g0137 a0004c0004t0001g0138 a0004c0004t0001g0139 a0004c0004t0001g0140 a0004c0004t0001g0141 a0004c0004t0001g0142 a0004c0004t0001g0143 a0004c0004t0001g0144 a0004c0004t0001g0145 a0004c0004t0001g0146 a0004c0004t0001g0147 a0004c0004t0001g0148 a0004c0004t0001g0149 a0004c0004t0001g0150 a0004c0004t0001g0151 a0004c0004t0001g0154 a0004c0004t0001g0155 a0004c0004t0001g0156 a0004c0004t0001g0169 a0004c0004t0001g0170 a0004c0004t0001g0171 a0004c0004t0001g0172 a0004c0004t0001g0173 a0004c0004t0001g0221 a0004c0004t0001g0222 a0004c0004t0001g0223 a0004c0004t0001g0224 a0004c0004t0001g0225 a0004c0004t0006g0031 a0004c0025t0001g0126 a0006c0009t0004g0029 a0006c0009t0004g0331 a0006c0020t0001g0092 a0007c0008t0001g0059 a0007c0008t0001g0060 a0007c0008t0001g0061 a0008c0011t0002g0205 a0008c0011t0002g0206 a0009c0012t0001g0152 a0009c0012t0001g0153 a0010c0013t0001g0067 a0012c0015t0001g0194 a0013c0017t0001g0211 a0017c0022t0001g0109 a0018c0023t0002g0043	265	382	0.6937	0	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	3/14	c.352-429A>T
chr4:56381742	A A	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01175.hp1 HG00639.hp2 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0157 a0001c0001t0001g0062 a0001c0001t0001g0157	2	382	0.0052	0	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	3/14	c.351+735T>A
chr4:56386799	C C	CA CA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00423.hp2 others(121): Show HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00597.hp1 HG00735.hp2 HG01074.hp1 HG01106.hp1 HG01123.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG02004.hp1 HG02015.hp1 HG02040.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02572.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02895.hp1 HG03195.hp1 HG03239.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 NA18612.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18977.hp1 NA18978.hp1 NA18982.hp1 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18994.hp1 NA18994.hp2 NA18997.hp2 NA19000.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp2 NA19055.hp1 NA19057.hp2 NA19058.hp1 NA19063.hp2 NA19064.hp2 NA19066.hp2 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20905.hp2	a0001 a0002 a0004 others(7): Show a0001 a0002 a0004 a0006 a0008 a0009 a0012 a0013 a0014 a0016	a0001c0001 a0002c0002 a0002c0006 others(9): Show a0001c0001 a0002c0002 a0002c0006 a0004c0004 a0004c0025 a0006c0009 a0008c0011 a0009c0012 a0012c0015 a0013c0017 a0014c0016 a0016c0018	a0001c0001t0001 a0002c0002t0001 a0002c0002t0007 others(11): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0007 a0002c0006t0001 a0004c0004t0001 a0004c0004t0006 a0004c0025t0001 a0006c0009t0004 a0008c0011t0002 a0009c0012t0001 a0012c0015t0001 a0013c0017t0001 a0014c0016t0001 a0016c0018t0001	a0001c0001t0001g0125 a0001c0001t0001g0157 a0001c0001t0001g0158 others(105): Show a0001c0001t0001g0125 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0002c0002t0001g0002 a0002c0002t0001g0009 a0002c0002t0001g0023 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0219 a0002c0002t0001g0329 a0002c0002t0007g0330 a0002c0006t0001g0188 a0004c0004t0001g0005 a0004c0004t0001g0008 a0004c0004t0001g0020 a0004c0004t0001g0021 a0004c0004t0001g0022 a0004c0004t0001g0127 a0004c0004t0001g0128 a0004c0004t0001g0129 a0004c0004t0001g0130 a0004c0004t0001g0131 a0004c0004t0001g0132 a0004c0004t0001g0133 a0004c0004t0001g0134 a0004c0004t0001g0135 a0004c0004t0001g0136 a0004c0004t0001g0137 a0004c0004t0001g0138 a0004c0004t0001g0139 a0004c0004t0001g0140 a0004c0004t0001g0141 a0004c0004t0001g0142 a0004c0004t0001g0143 a0004c0004t0001g0144 a0004c0004t0001g0145 a0004c0004t0001g0146 a0004c0004t0001g0147 a0004c0004t0001g0148 a0004c0004t0001g0149 a0004c0004t0001g0150 a0004c0004t0001g0151 a0004c0004t0001g0154 a0004c0004t0001g0155 a0004c0004t0001g0156 a0004c0004t0001g0169 a0004c0004t0001g0170 a0004c0004t0001g0171 a0004c0004t0001g0172 a0004c0004t0001g0173 a0004c0004t0006g0031 a0004c0025t0001g0126 a0006c0009t0004g0029 a0006c0009t0004g0331 a0008c0011t0002g0205 a0008c0011t0002g0206 a0009c0012t0001g0152 a0009c0012t0001g0153 a0012c0015t0001g0194 a0013c0017t0001g0211 a0014c0016t0001g0218 a0016c0018t0001g0167	124	382	0.3246	1	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	1/14	c.-43+562dupT

genename	grch38/ chm13v2 1/0: The haplotype type is the same as GRCh38 0/1: The haplotype type is the same as CHM13v2 0/0: The haplotype type matches neither GRCh38 nor CHM13v2 1/1: The haplotype type is the same on both GRCh38 and CHM13v2	ahapid	alen	total	AFR	AMR	EAS	EUR	SAS	aseq	chr	start	end
AASDH	1/0	a0001	1098	130	26	16	73	8	6	subcellular location copy fasta	chr4	56333290	56392491

genename	grch38/ chm13v2 1/0: The haplotype type is the same as GRCh38 0/1: The haplotype type is the same as CHM13v2 0/0: The haplotype type matches neither GRCh38 nor CHM13v2 1/1: The haplotype type is the same on both GRCh38 and CHM13v2	chapid	clen	total	AFR	AMR	EAS	EUR	SAS	cseq	chr	start	end
AASDH	1/0	c0001	3297	87	19	12	46	5	4	copy fasta	chr4	56333290	56392491

genename	grch38/ chm13v2	thapid	tlen	total	AFR	AMR	EAS	EUR	SAS	tseq	chr	start	end
AASDH	1/0	t0001	285	289	51	36	170	10	21	copy fasta	chr4	56333290	56392491

genename	grch38/ chm13v2	ghapid	total	AFR	AMR	EAS	EUR	SAS	chr	start	end
AASDH	0/0	g0157	1	0	1	0	0	0	chr4	56333290	56392491

genename	grch38/ chm13v2 1/0: The haplotype type is the same as GRCh38 0/1: The haplotype type is the same as CHM13v2 0/0: The haplotype type matches neither GRCh38 nor CHM13v2 1/1: The haplotype type is the same on both GRCh38 and CHM13v2	achapid	total	AFR	AMR	EAS	EUR	SAS	clen	cseq	chr	start	end
AASDH	1/0	a0001c0001	87	19	12	46	5	4	3297	copy fasta	chr4	56333290	56392491

genename	grch38/ chm13v2 1/0: The haplotype type is the same as GRCh38 0/1: The haplotype type is the same as CHM13v2 0/0: The haplotype type matches neither GRCh38 nor CHM13v2 1/1: The haplotype type is the same on both GRCh38 and CHM13v2	acthapid	total	AFR	AMR	EAS	EUR	SAS	tlen	tseq	chr	start	end
AASDH	1/0	a0001c0001t0001	87	19	12	46	5	4	3581	copy fasta	chr4	56333290	56392491

genename	grch38/ chm13v2 1/0: The haplotype type is the same as GRCh38 0/1: The haplotype type is the same as CHM13v2 0/0: The haplotype type matches neither GRCh38 nor CHM13v2 1/1: The haplotype type is the same on both GRCh38 and CHM13v2	actghapid	total	AFR	AMR	EAS	EUR	SAS	chr	start	end
AASDH	0/0	a0001c0001t0001g0157	1	0	1	0	0	0	chr4	56333290	56392491

pos	S. Strand	E# Exon Number	max	median	min	type	haplotypeid	max_hap_list	min_hap_list	symbol	chr	start	end
56387362	-	1	-0.4890	-0.4890	-0.4890	acceptor	a0001c0001t0001g0157	HG01175.hp1 HG01175.hp1	HG01175.hp1 HG01175.hp1	AASDH	chr4	56333290	56392491
56384070	-	2	-0.2908	-0.2908	-0.2908	acceptor	a0001c0001t0001g0157	HG01175.hp1 HG01175.hp1	HG01175.hp1 HG01175.hp1	AASDH	chr4	56333290	56392491
56384341	-	2	0.3052	0.3052	0.3052	donor	a0001c0001t0001g0157	HG01175.hp1 HG01175.hp1	HG01175.hp1 HG01175.hp1	AASDH	chr4	56333290	56392491
56382477	-	3	-0.5538	-0.5538	-0.5538	acceptor	a0001c0001t0001g0157	HG01175.hp1 HG01175.hp1	HG01175.hp1 HG01175.hp1	AASDH	chr4	56333290	56392491
56382597	-	3	0.6943	0.6943	0.6943	donor	a0001c0001t0001g0157	HG01175.hp1 HG01175.hp1	HG01175.hp1 HG01175.hp1	AASDH	chr4	56333290	56392491
56378148	-	4	-0.7077	-0.7077	-0.7077	acceptor	a0001c0001t0001g0157	HG01175.hp1 HG01175.hp1	HG01175.hp1 HG01175.hp1	AASDH	chr4	56333290	56392491
56378464	-	4	0.7250	0.7250	0.7250	donor	a0001c0001t0001g0157	HG01175.hp1 HG01175.hp1	HG01175.hp1 HG01175.hp1	AASDH	chr4	56333290	56392491
56371451	-	5	-0.8322	-0.8322	-0.8322	acceptor	a0001c0001t0001g0157	HG01175.hp1 HG01175.hp1	HG01175.hp1 HG01175.hp1	AASDH	chr4	56333290	56392491
56371643	-	5	0.8367	0.8367	0.8367	donor	a0001c0001t0001g0157	HG01175.hp1 HG01175.hp1	HG01175.hp1 HG01175.hp1	AASDH	chr4	56333290	56392491
56355182	-	6	-0.9057	-0.9057	-0.9057	acceptor	a0001c0001t0001g0157	HG01175.hp1 HG01175.hp1	HG01175.hp1 HG01175.hp1	AASDH	chr4	56333290	56392491
56355423	-	6	0.8862	0.8862	0.8862	donor	a0001c0001t0001g0157	HG01175.hp1 HG01175.hp1	HG01175.hp1 HG01175.hp1	AASDH	chr4	56333290	56392491
56354705	-	7	-0.4899	-0.4899	-0.4899	acceptor	a0001c0001t0001g0157	HG01175.hp1 HG01175.hp1	HG01175.hp1 HG01175.hp1	AASDH	chr4	56333290	56392491
56354811	-	7	0.6329	0.6329	0.6329	donor	a0001c0001t0001g0157	HG01175.hp1 HG01175.hp1	HG01175.hp1 HG01175.hp1	AASDH	chr4	56333290	56392491
56354039	-	8	-0.9909	-0.9909	-0.9909	acceptor	a0001c0001t0001g0157	HG01175.hp1 HG01175.hp1	HG01175.hp1 HG01175.hp1	AASDH	chr4	56333290	56392491
56354211	-	8	0.9878	0.9878	0.9878	donor	a0001c0001t0001g0157	HG01175.hp1 HG01175.hp1	HG01175.hp1 HG01175.hp1	AASDH	chr4	56333290	56392491
56353404	-	9	-0.9955	-0.9955	-0.9955	acceptor	a0001c0001t0001g0157	HG01175.hp1 HG01175.hp1	HG01175.hp1 HG01175.hp1	AASDH	chr4	56333290	56392491
56353596	-	9	0.9982	0.9981	0.9982	donor	a0001c0001t0001g0157	HG01175.hp1 HG01175.hp1	HG01175.hp1 HG01175.hp1	AASDH	chr4	56333290	56392491
56351342	-	10	-0.7707	-0.7707	-0.7707	acceptor	a0001c0001t0001g0157	HG01175.hp1 HG01175.hp1	HG01175.hp1 HG01175.hp1	AASDH	chr4	56333290	56392491
56351457	-	10	0.8047	0.8047	0.8047	donor	a0001c0001t0001g0157	HG01175.hp1 HG01175.hp1	HG01175.hp1 HG01175.hp1	AASDH	chr4	56333290	56392491
56349263	-	11	-0.7079	-0.7079	-0.7079	acceptor	a0001c0001t0001g0157	HG01175.hp1 HG01175.hp1	HG01175.hp1 HG01175.hp1	AASDH	chr4	56333290	56392491
56350058	-	11	0.9147	0.9147	0.9147	donor	a0001c0001t0001g0157	HG01175.hp1 HG01175.hp1	HG01175.hp1 HG01175.hp1	AASDH	chr4	56333290	56392491
56345127	-	12	-0.9737	-0.9737	-0.9737	acceptor	a0001c0001t0001g0157	HG01175.hp1 HG01175.hp1	HG01175.hp1 HG01175.hp1	AASDH	chr4	56333290	56392491
56345290	-	12	0.9474	0.9474	0.9474	donor	a0001c0001t0001g0157	HG01175.hp1 HG01175.hp1	HG01175.hp1 HG01175.hp1	AASDH	chr4	56333290	56392491
56343562	-	13	-0.6666	-0.6666	-0.6666	acceptor	a0001c0001t0001g0157	HG01175.hp1 HG01175.hp1	HG01175.hp1 HG01175.hp1	AASDH	chr4	56333290	56392491
56343684	-	13	0.8830	0.8830	0.8830	donor	a0001c0001t0001g0157	HG01175.hp1 HG01175.hp1	HG01175.hp1 HG01175.hp1	AASDH	chr4	56333290	56392491
56342835	-	14	-0.6885	-0.6885	-0.6885	acceptor	a0001c0001t0001g0157	HG01175.hp1 HG01175.hp1	HG01175.hp1 HG01175.hp1	AASDH	chr4	56333290	56392491
56342966	-	14	0.7299	0.7299	0.7299	donor	a0001c0001t0001g0157	HG01175.hp1 HG01175.hp1	HG01175.hp1 HG01175.hp1	AASDH	chr4	56333290	56392491
56338791	-	15	0.9364	0.9364	0.9364	donor	a0001c0001t0001g0157	HG01175.hp1 HG01175.hp1	HG01175.hp1 HG01175.hp1	AASDH	chr4	56333290	56392491

pos	annotation hgvs_c hgvs_p	clinvarid	clnsig	geneinfo	mc	clndisdb	strand strand	ahapid ahapid_count	chapid chapid count	thapid thapid_count	ghapid ghapid_count	AHAPIDS ahapids	ACHAPIDS achapids	ACTHAPIDS acthapids	ACTGHAPIDS actghapids	haplotypeids haplotypeids	impact	chr	ref	alt	external

CHR:POS	annotation hgvs_c hgvs_p	disease trait -log10p odds or beta	AHAPIDS ahapids	ACHAPIDS achapids	ACTHAPIDS acthapids	ACTGHAPIDS actghapids	haplotypeids haplotypeids	study	initial sample size/ replication sample size	report genes	mapped gene	strongest snp risk allele	strand strand	impact	chr	ref	alt

pos	genename hgvs_c hgvs_p annotation	tissue expression gene -log10(pval) slope Tissue name in GTEx database(the target eQTL tissue name of the GTEx database) The -log10(nominal pvalue) in GTEx database Slope in GTEx database (positive value:alt allele has higher gene expression)	ahapid chapid thapid ghapid ahapid_count chapid_count thapid_count ghapid_count	AHAPIDS ahapids	ACHAPIDS achapids	ACTHAPIDS acthapids	ACTGHAPIDS actghapids	haplotypeids haplotypeids	af allele frequency in GTEx database	ms The number of samples with minor allele in GTEx database	ma The number of minor allele count in GTEx database	ver GTEx version	vid Variant ID in GTEx database	strand strand	impact	chr	ref	alt	external

Haplotype Detail Info [AASDH_chr4_56333290_56392491>a0001c0001t0001g0157]

🧬 Gene Summary

🧬 JoGo Online Haplotype Explorer AASDH_chr4_56333290_56392491

AVariants in Amino-acids (protein) level Haplotype (Total: 0)

CVariants in Coding level Haplotype (Total: 0)

TVariants in Transcript level Haplotype (Total: 0)

GVariants in Genebody level Haplotype (Total: 5)

AAmino-acid (protein) Level Haplotype Info (Total: 1)

CCoding Level Haplotype Info (Total: 1)

TTranscript Level Haplotype Info (Total: 1)

GGenebody Level Haplotype Info (Total: 1)

A C AC Level (Amino Acid + Coding) Haplotype Info (Total: 1)

A C T ACT Level (Amino Acid + Coding + Transcript) Haplotype Info (Total: 1)

A C T G ACTG Level (Amino Acid + Coding + Transcript + Genebody) Haplotype Info (Total: 1)

📊 HaplotypeQTL Info

⚡ Splicing Related Variants (Total: 28)

🩺 Clinvar Related Variants (Total: 0)

GWASCatalog Related Variants (Total: 0)

GTEx Related Variants (Page 1 of 1 - Total: 0)