Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
AFG3L2_chr18_12323944_12382227	12358662	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01192.hp1 HG02280.hp1 HG01192.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0172 a0001c0001t0001g0133 a0001c0001t0001g0172	2	374	0.0053	0	c.102 others(6): Show c.1026+8G>A		AFG3L2	ENSG00000141385.12	transcript	ENST00000269143.8	protein_coding	8/16					chr18	TogoVar
AFG3L2_chr18_12323944_12382227	12359921	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(186): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02738.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18948.hp1 NA18949.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp2 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp2 NA18990.hp2 NA18993.hp2 NA18998.hp1 NA19000.hp1 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19057.hp2 NA19058.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19068.hp1 NA19070.hp1 NA19077.hp2 NA19081.hp1 NA19240.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0003t0003 a0001c0005t0001 a0001c0007t0001 a0002c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0009 others(170): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0277 a0001c0001t0001g0323 a0001c0001t0001g0327 a0001c0001t0001g0342 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0002g0059 a0001c0001t0002g0063 a0001c0001t0002g0067 a0001c0001t0002g0095 a0001c0001t0004g0021 a0001c0001t0004g0030 a0001c0001t0004g0101 a0001c0001t0006g0206 a0001c0001t0006g0239 a0001c0001t0007g0020 a0001c0001t0009g0107 a0001c0003t0003g0296 a0001c0005t0001g0173 a0001c0007t0001g0199 a0002c0004t0001g0015	189	374	0.5053	0	c.752 others(5): Show c.752+6C>T		AFG3L2	ENSG00000141385.12	transcript	ENST00000269143.8	protein_coding	7/16					chr18	TogoVar
AFG3L2_chr18_12323944_12382227	12370931	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	374	0.0027	0	c.215 others(5): Show c.215-5A>C		AFG3L2	ENSG00000141385.12	transcript	ENST00000269143.8	protein_coding	2/16					chr18	TogoVar
AFMID_chr17_78182362_78212702	78205088	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0350 a0001c0001t0012g0350	1	444	0.0023	0	c.468 others(5): Show c.468-5C>G		AFMID	ENSG00000183077.16	transcript	ENST00000409257.10	protein_coding	6/10					chr17	TogoVar
AFM_chr4_73476745_73509001	73500235	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	2	366	0.0055	0	c.164 others(6): Show c.1646+8T>C		AFM	ENSG00000079557.5	transcript	ENST00000226355.5	protein_coding	12/14					chr4	TogoVar
AFM_chr4_73476745_73509001	73503877	G G	A A	splice_region_variant splice_region_variant	LOW	HG02004.hp2 HG02723.hp2 HG02004.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0147 a0001c0001t0003g0205 a0001c0001t0003g0147 a0001c0001t0003g0205	2	366	0.0055	0	c.42 others(3): Show c.42G>A		AFM	ENSG00000079557.5	transcript	ENST00000226355.5	protein_coding	15/15					chr4	TogoVar
AFP_chr4_73431221_73461174	73436354	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00280.hp2 HG00323.hp2 others(176): Show HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01361.hp1 HG01361.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01943.hp2 HG01952.hp2 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03579.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18945.hp1 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp2 NA18978.hp2 NA18979.hp2 NA18981.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19062.hp1 NA19063.hp2 NA19064.hp2 NA19072.hp1 NA19075.hp1 NA19076.hp1 NA19076.hp2 NA19077.hp2 NA19082.hp1 NA19086.hp2 NA19089.hp2 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0009	a0001c0001 a0001c0003 a0001c0013 others(4): Show a0001c0001 a0001c0003 a0001c0013 a0001c0014 a0002c0002 a0007c0010 a0009c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0003t0001 a0001c0013t0001 a0001c0014t0001 a0002c0002t0002 a0007c0010t0001 a0009c0016t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(49): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0002g0014 a0001c0001t0002g0051 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0003g0001 a0001c0001t0003g0060 a0001c0001t0003g0067 a0001c0001t0004g0062 a0001c0003t0001g0001 a0001c0003t0001g0010 a0001c0003t0001g0065 a0001c0003t0001g0068 a0001c0013t0001g0016 a0001c0014t0001g0001 a0002c0002t0002g0026 a0002c0002t0002g0064 a0007c0010t0001g0063 a0009c0016t0001g0008	179	388	0.4613	0	c.85+ others(4): Show c.85+7T>A		AFP	ENSG00000081051.8	transcript	ENST00000395792.7	protein_coding	1/14					chr4	TogoVar
AFP_chr4_73431221_73461174	73437153	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(187): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00558.hp1 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02572.hp1 HG02647.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03453.hp1 HG03486.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18967.hp2 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18981.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp2 NA18992.hp1 NA18995.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19007.hp2 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19072.hp2 NA19075.hp2 NA19077.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0010 a0011	a0001c0001 a0001c0003 a0001c0005 others(7): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002 a0003c0006 a0004c0009 a0005c0008 a0006c0007 a0010c0015 a0011c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0003t0001 a0001c0005t0002 a0002c0002t0002 a0003c0006t0002 a0004c0009t0002 a0005c0008t0002 a0006c0007t0002 a0010c0015t0002 a0011c0011t0002	a0001c0001t0001g0003 a0001c0001t0001g0077 a0001c0001t0001g0101 others(57): Show a0001c0001t0001g0003 a0001c0001t0001g0077 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0024 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0111 a0001c0001t0005g0009 a0001c0001t0006g0090 a0001c0003t0001g0022 a0001c0003t0001g0034 a0001c0005t0002g0002 a0001c0005t0002g0093 a0002c0002t0002g0002 a0002c0002t0002g0018 a0002c0002t0002g0036 a0002c0002t0002g0084 a0002c0002t0002g0095 a0003c0006t0002g0012 a0004c0009t0002g0004 a0005c0008t0002g0076 a0005c0008t0002g0083 a0006c0007t0002g0012 a0006c0007t0002g0103 a0010c0015t0002g0079 a0011c0011t0002g0020	190	388	0.4897	0	c.86- others(4): Show c.86-7T>C		AFP	ENSG00000081051.8	transcript	ENST00000395792.7	protein_coding	1/14					chr4	TogoVar
AFP_chr4_73431221_73461174	73444978	C C	CT CT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02040.hp2 HG02080.hp2 HG02135.hp1 others(9): Show HG02040.hp2 HG02080.hp2 HG02135.hp1 HG02155.hp2 NA18960.hp1 NA18979.hp1 NA18999.hp2 NA19002.hp1 NA19060.hp1 NA19063.hp1 NA19064.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0011 a0001c0001t0002g0032 a0001c0001t0002g0096 others(1): Show a0001c0001t0002g0011 a0001c0001t0002g0032 a0001c0001t0002g0096 a0001c0001t0006g0090	12	388	0.0309	1	c.714 others(6): Show c.714-7dupT		AFP	ENSG00000081051.8	transcript	ENST00000395792.7	protein_coding	6/14				INFO_REALIGN_3_PRIME	chr4	TogoVar
AFP_chr4_73431221_73461174	73445127	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00280.hp2 HG00323.hp2 others(192): Show HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01106.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02647.hp2 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18943.hp2 NA18945.hp1 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp2 NA18981.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp2 NA19062.hp1 NA19063.hp2 NA19064.hp2 NA19072.hp1 NA19075.hp1 NA19076.hp1 NA19076.hp2 NA19077.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19086.hp2 NA19087.hp1 NA19089.hp2 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0007 a0009 a0001 a0007 a0009	a0001c0001 a0001c0003 a0001c0013 others(3): Show a0001c0001 a0001c0003 a0001c0013 a0001c0014 a0007c0010 a0009c0016	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0003t0001 a0001c0013t0001 a0001c0014t0001 a0007c0010t0001 a0009c0016t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(48): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0003g0001 a0001c0001t0003g0060 a0001c0001t0003g0067 a0001c0001t0004g0062 a0001c0003t0001g0001 a0001c0003t0001g0010 a0001c0003t0001g0022 a0001c0003t0001g0065 a0001c0003t0001g0068 a0001c0013t0001g0016 a0001c0014t0001g0001 a0007c0010t0001g0063 a0009c0016t0001g0008	195	388	0.5026	0	c.843 others(5): Show c.843+5A>G		AFP	ENSG00000081051.8	transcript	ENST00000395792.7	protein_coding	7/14					chr4	TogoVar
AFP_chr4_73431221_73461174	73447055	CGGACACT others(1268): Show CGGACACTATTAGAGGAGGGATTTGTGTAGCACTTAGGACATTATACTTG ATAATTTCCAAGGGTCTTTCTAGATTTAAAAGTCTGATTCTAACGTAGTA ATAAAAATAAAGGCCCAATTTTCTCTTTAATATTGGCTGAAGATATTACT CTATTATTGCATTAAAATTAAACATTCACACATTGTTTGCACTGCTAAAT AAAATTATGTAATTTCTTCTTCTTTCCTTCCTCCTTCCTCCATCCCTCTC TATTTCCCTTTCCCCTTCCTTCTTTCCTGGCCTTTTTTCCTTCTTTCTTT GTTCCCTTCTCCCTCCCTCCCCTTTCTTCCTTTTTCTAAAGCTGGCTTTG AGATCCTTTATTAAAGAATAAATCTTTAAAACTTATACTTTATTTTCTCT GTTGCAGGAAAAAATCATGTCCTACATATGTTCTCAACAAGACACTCTGT CAAACAAAATAACAGAATGCTGCAAACTGACCACGCTGGAACGTGGTCAA TGTATAATTCATGCAGAAAATGATGAAAAACCTGAAGGTCTATCTCCAAA TCTAAACAGGTTTTTAGGAGATAGAGATTTTAACCAATTTTCTTCAGGGG AAAAAAATATCTTCTTGGCAAGGTAACACACTCTGTAAATGCATGTTCAT GCAAGTAAAAATGATTATGTGGCTGACAGATTTGCGTTGTTGAAATGGAG AGTGATGATTATGGTTTTTGAGTTCAATATGTGAGGATATTTGGCTAGAA TGTTCTGAGCCAAAATAGATTTCAGTAGATAACCAGGGAATAAGTAATGG GATTTGGTGTTTAACGGTGAAGCGTTCACCACTGTGACTCATTAACTGCT TTGCTTATGAAGCTGAATTTTATTTCACATCAATTTCTCTGGAATCAGAA GCATTGTCATCCTGTAAAGATTACTCATATCAAGGCCACCATTGAACTCT CAAATAGGATATGGATATTTTTGTAATAAGAAGAGTTCATGATTAAGAAT GAACTCTTGCTACGCATGTTAAAAAAAAAACTTTTCTCCAAAAGATAACA CAAGAGATAATGCTAGGTAGAAGAACTTTTATAGGAACAGCTTATTGGCT ATGTATTAAATACATGTTTTGTATTTTTTAAGAAAATCAAAACATGTTTA GAGACATTTGCAGTACAGTAGTTTGTTTTAATACAACTGATAGGTCACGT TCTCACTCTATTTGCCTTTAAGGGAAGAAAGCAATCAAGTTAATACGTTT TCCTTCATTGTATAGTATGTAACTAT	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG00642.hp1 NA18955.hp2 HG00642.hp1 NA18955.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0002 a0005c0008t0002	a0005c0008t0002g0076 a0005c0008t0002g0083 a0005c0008t0002g0076 a0005c0008t0002g0083	2	387	0.0052	-1275	c.844 others(16): Show c.844-272_1058+788del		AFP	ENSG00000081051.8	transcript	ENST00000395792.7	protein_coding	8/15				INFO_REALIGN_3_PRIME	chr4	TogoVar
AFTPH_chr2_64519328_64598005	64524619	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0367 a0001c0001t0001g0367	1	370	0.0027	0	c.-33 others(5): Show c.-33+7G>T		AFTPH	ENSG00000119844.17	transcript	ENST00000409933.6	protein_coding	1/9					chr2	TogoVar
AFTPH_chr2_64519328_64598005	64569683	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp1 HG00558.hp1 HG00673.hp2 others(26): Show HG00408.hp1 HG00558.hp1 HG00673.hp2 HG01891.hp2 HG02083.hp2 HG02129.hp2 HG02145.hp2 HG02523.hp2 HG02602.hp1 HG02622.hp1 HG02886.hp1 HG02886.hp2 HG03130.hp1 HG03540.hp1 NA18940.hp1 NA18953.hp2 NA18956.hp2 NA18959.hp2 NA18963.hp1 NA18968.hp1 NA18974.hp1 NA18986.hp2 NA18994.hp2 NA19002.hp1 NA19005.hp1 NA19012.hp1 NA19055.hp1 NA19074.hp2 NA19240.hp1	a0002 a0008 a0002 a0008	a0002c0002 a0008c0017 a0002c0002 a0008c0017	a0002c0002t0002 a0002c0002t0003 a0002c0002t0010 others(1): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0010 a0008c0017t0003	a0002c0002t0002g0292 a0002c0002t0002g0297 a0002c0002t0002g0302 others(26): Show a0002c0002t0002g0292 a0002c0002t0002g0297 a0002c0002t0002g0302 a0002c0002t0002g0327 a0002c0002t0003g0287 a0002c0002t0003g0288 a0002c0002t0003g0289 a0002c0002t0003g0290 a0002c0002t0003g0291 a0002c0002t0003g0293 a0002c0002t0003g0294 a0002c0002t0003g0295 a0002c0002t0003g0296 a0002c0002t0003g0298 a0002c0002t0003g0299 a0002c0002t0003g0300 a0002c0002t0003g0301 a0002c0002t0003g0303 a0002c0002t0003g0304 a0002c0002t0003g0305 a0002c0002t0003g0308 a0002c0002t0003g0320 a0002c0002t0003g0321 a0002c0002t0003g0322 a0002c0002t0003g0324 a0002c0002t0003g0328 a0002c0002t0003g0329 a0002c0002t0010g0323 a0008c0017t0003g0326	29	370	0.0784	0	c.227 others(6): Show c.2271+4A>C		AFTPH	ENSG00000119844.17	transcript	ENST00000409933.6	protein_coding	5/9					chr2	TogoVar
AGAP1_chr2_235489043_236136793	235799522	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00741.hp1 HG01106.hp1 HG01123.hp2 others(4): Show HG00741.hp1 HG01106.hp1 HG01123.hp2 HG01192.hp1 HG02135.hp1 NA19011.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0020 a0001c0006 a0002c0020	a0001c0006t0001 a0001c0006t0006 a0001c0006t0033 others(4): Show a0001c0006t0001 a0001c0006t0006 a0001c0006t0033 a0001c0006t0035 a0001c0006t0037 a0001c0006t0046 a0002c0020t0001	a0001c0006t0001g0016 a0001c0006t0006g0019 a0001c0006t0033g0087 others(4): Show a0001c0006t0001g0016 a0001c0006t0006g0019 a0001c0006t0033g0087 a0001c0006t0035g0044 a0001c0006t0037g0021 a0001c0006t0046g0040 a0002c0020t0001g0022	7	98	0.0714	0	c.957 others(3): Show c.957C>T	p.Thr others(6): Show p.Thr319Thr	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	8/18	1601/10889	957/2574	319/857		chr2	TogoVar
AGAP2_chr12_57720197_57743742	57732978	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA19007.hp1 NA19070.hp2 NA19084.hp2 NA19007.hp1 NA19070.hp2 NA19084.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0046 a0001c0008t0001g0106 a0001c0008t0001g0046 a0001c0008t0001g0106	3	380	0.0079	0	c.155 others(4): Show c.1551C>T	p.Asp others(6): Show p.Asp517Asp	AGAP2	ENSG00000135439.12	transcript	ENST00000547588.6	protein_coding	6/19	2047/5430	1551/3579	517/1192		chr12	TogoVar
AGAP3_chr7_151081475_151149434	151134575	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03486.hp1 NA19010.hp1 HG03486.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0230 a0001c0001t0001g0110 a0001c0001t0001g0230	2	352	0.0057	0	c.149 others(6): Show c.1495+7C>T		AGAP3	ENSG00000133612.20	transcript	ENST00000397238.7	protein_coding	11/17					chr7	TogoVar
AGAP4_chr10_45820594_45852500	45831428	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01099.hp1 HG01099.hp1	a0019 a0019	a0019c0054 a0019c0054	a0019c0054t0001 a0019c0054t0001	a0019c0054t0001g0073 a0019c0054t0001g0073	1	380	0.0026	0	c.499 others(3): Show c.499G>T	p.Val others(6): Show p.Val167Leu	AGAP4	ENSG00000188234.15	transcript	ENST00000616763.6	protein_coding	6/8	652/2535	499/2061	167/686		chr10	TogoVar
AGAP4_chr10_45820594_45852500	45834122	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03195.hp2 HG03195.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0064 a0006c0007t0001g0064	1	380	0.0026	0	c.397 others(5): Show c.397-6C>G		AGAP4	ENSG00000188234.15	transcript	ENST00000616763.6	protein_coding	4/7					chr10	TogoVar
AGAP4_chr10_45820594_45852500	45846760	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03579.hp1 HG03579.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0054 a0006c0007t0001g0054	1	380	0.0026	0	c.224 others(5): Show c.224-5T>C		AGAP4	ENSG00000188234.15	transcript	ENST00000616763.6	protein_coding	1/7					chr10	TogoVar
AGAP4_chr10_45820594_45852500	45847122	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	380	0.0026	0	c.223 others(5): Show c.223+3G>A		AGAP4	ENSG00000188234.15	transcript	ENST00000616763.6	protein_coding	1/7					chr10	TogoVar
AGAP5_chr10_73669295_73703109	73692035	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02895.hp2 HG02897.hp2 NA20129.hp2 HG02895.hp2 HG02897.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0058 a0001c0001t0001g0147 a0001c0001t0001g0148	3	366	0.0082	0	c.396 others(5): Show c.396+8A>G		AGAP5	ENSG00000172650.15	transcript	ENST00000374094.9	protein_coding	4/7					chr10	TogoVar
AGAP6_chr10_49983406_50015499	49991670	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01167.hp2 HG01167.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0182 a0002c0002t0001g0182	1	404	0.0025	0	c.293 others(5): Show c.293-6A>G		AGAP6	ENSG00000204149.16	transcript	ENST00000412531.7	protein_coding	2/7					chr10	TogoVar
AGAP6_chr10_49983406_50015499	49991751	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19082.hp2 NA19082.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0209 a0003c0003t0003g0209	1	404	0.0025	0	c.361 others(5): Show c.361+7C>T		AGAP6	ENSG00000204149.16	transcript	ENST00000412531.7	protein_coding	3/7					chr10	TogoVar
AGAP9_chr10_47496854_47528638	47523301	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02602.hp2 HG02723.hp1 HG02602.hp2 HG02723.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0012 a0001c0001 a0010c0012	a0001c0001t0001 a0010c0012t0001 a0001c0001t0001 a0010c0012t0001	a0001c0001t0001g0070 a0010c0012t0001g0082 a0001c0001t0001g0070 a0010c0012t0001g0082	2	204	0.0098	0	c.223 others(5): Show c.223+3A>G		AGAP9	ENSG00000204172.12	transcript	ENST00000452145.6	protein_coding	1/7					chr10	TogoVar
AGA_chr4_177425774_177447437	177431813	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	440	0.0023	0	c.941 others(5): Show c.941-5C>T		AGA	ENSG00000038002.9	transcript	ENST00000264595.7	protein_coding	8/8					chr4	TogoVar
AGA_chr4_177425774_177447437	177436358	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	440	0.0023	0	c.623 others(5): Show c.623-7C>T		AGA	ENSG00000038002.9	transcript	ENST00000264595.7	protein_coding	5/8					chr4	TogoVar
AGBL1_chr15_86074871_86921156	86143851	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01255.hp1 HG02451.hp1 HG02896.hp1 others(5): Show HG01255.hp1 HG02451.hp1 HG02896.hp1 HG03471.hp2 HG06807.hp1 NA18906.hp1 NA19043.hp1 NA20129.hp2	a0001 a0004 a0007 others(1): Show a0001 a0004 a0007 a0021	a0001c0001 a0001c0002 a0001c0007 others(3): Show a0001c0001 a0001c0002 a0001c0007 a0004c0031 a0007c0016 a0021c0038	a0001c0001t0003 a0001c0002t0018 a0001c0002t0022 others(5): Show a0001c0001t0003 a0001c0002t0018 a0001c0002t0022 a0001c0007t0029 a0001c0007t0044 a0004c0031t0015 a0007c0016t0037 a0021c0038t0013	a0001c0001t0003g0104 a0001c0002t0018g0105 a0001c0002t0022g0041 others(5): Show a0001c0001t0003g0104 a0001c0002t0018g0105 a0001c0002t0022g0041 a0001c0007t0029g0115 a0001c0007t0044g0114 a0004c0031t0015g0108 a0007c0016t0037g0049 a0021c0038t0013g0091	8	132	0.0606	0	c.262 others(5): Show c.262+6C>A		AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	3/22					chr15	TogoVar
AGBL1_chr15_86074871_86921156	86247885	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02055.hp2 HG02280.hp2 HG02451.hp2 others(7): Show HG02055.hp2 HG02280.hp2 HG02451.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG03209.hp2 HG03486.hp1 NA20129.hp2 NA20300.hp2	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0004c0009 a0004c0020 others(2): Show a0001c0001 a0004c0009 a0004c0020 a0004c0031 a0007c0016	a0001c0001t0006 a0004c0009t0003 a0004c0009t0017 others(7): Show a0001c0001t0006 a0004c0009t0003 a0004c0009t0017 a0004c0009t0049 a0004c0009t0066 a0004c0020t0012 a0004c0020t0043 a0004c0031t0015 a0007c0016t0037 a0007c0016t0039	a0001c0001t0006g0093 a0004c0009t0003g0095 a0004c0009t0017g0008 others(7): Show a0001c0001t0006g0093 a0004c0009t0003g0095 a0004c0009t0017g0008 a0004c0009t0049g0071 a0004c0009t0066g0019 a0004c0020t0012g0073 a0004c0020t0043g0068 a0004c0031t0015g0108 a0007c0016t0037g0049 a0007c0016t0039g0130	10	132	0.0758	0	c.735 others(5): Show c.735+6C>T		AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	7/22					chr15	TogoVar
AGBL1_chr15_86074871_86921156	86256853	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02735.hp2 HG02735.hp2	a0016 a0016	a0016c0047 a0016c0047	a0016c0047t0004 a0016c0047t0004	a0016c0047t0004g0087 a0016c0047t0004g0087	1	132	0.0076	0	c.736 others(3): Show c.736A>G	p.Asn others(6): Show p.Asn246Asp	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	8/23	838/12330	736/3366	246/1121		chr15	TogoVar
AGBL1_chr15_86074871_86921156	86522937	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01192.hp1 HG02895.hp1 HG02976.hp1 HG01192.hp1 HG02895.hp1 HG02976.hp1	a0009 a0013 a0009 a0013	a0009c0033 a0009c0039 a0013c0043 a0009c0033 a0009c0039 a0013c0043	a0009c0033t0006 a0009c0039t0023 a0013c0043t0001 a0009c0033t0006 a0009c0039t0023 a0013c0043t0001	a0009c0033t0006g0112 a0009c0039t0023g0020 a0013c0043t0001g0121 a0009c0033t0006g0112 a0009c0039t0023g0020 a0013c0043t0001g0121	3	132	0.0227	0	c.268 others(4): Show c.2683G>A	p.Val others(6): Show p.Val895Met	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	19/23	2785/12330	2683/3366	895/1121		chr15	TogoVar
AGBL2_chr11_47654591_47720369	47680077	G G	GA GA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02738.hp2 NA18940.hp1 NA18944.hp2 others(4): Show HG02738.hp2 NA18940.hp1 NA18944.hp2 NA18956.hp2 NA18963.hp2 NA19030.hp1 NA19062.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0151 a0001c0001t0001g0181 a0001c0001t0001g0213 others(4): Show a0001c0001t0001g0151 a0001c0001t0001g0181 a0001c0001t0001g0213 a0001c0001t0001g0272 a0002c0002t0002g0014 a0002c0002t0002g0069 a0002c0002t0002g0073	7	348	0.0201	1	c.191 others(7): Show c.1916-5dupT		AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	12/18					chr11	TogoVar
AGBL2_chr11_47654591_47720369	47699442	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19089.hp1 NA19089.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0023 a0002c0002t0002g0023	1	354	0.0028	0	c.694 others(5): Show c.694+4T>A		AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	8/18					chr11	TogoVar
AGBL2_chr11_47654591_47720369	47705641	C C	CA CA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(109): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00597.hp1 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01071.hp1 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01192.hp2 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp2 HG01515.hp1 HG01884.hp1 HG01943.hp2 HG02055.hp2 HG02056.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02698.hp1 HG02735.hp1 HG02818.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03225.hp2 HG03239.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18747.hp1 NA18906.hp2 NA18940.hp2 NA18941.hp2 NA18944.hp2 NA18945.hp2 NA18952.hp2 NA18953.hp1 NA18956.hp2 NA18959.hp2 NA18962.hp2 NA18963.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18977.hp2 NA18981.hp1 NA18983.hp2 NA18987.hp2 NA18990.hp2 NA18992.hp1 NA18994.hp1 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19009.hp1 NA19030.hp1 NA19056.hp1 NA19058.hp2 NA19063.hp2 NA19065.hp2 NA19066.hp1 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19082.hp1 NA19084.hp2 NA19085.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0007 others(2): Show a0001 a0002 a0007 a0008 a0013	a0001c0001 a0002c0002 a0007c0007 others(2): Show a0001c0001 a0002c0002 a0007c0007 a0008c0014 a0013c0016	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(4): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0002c0002t0007 a0007c0007t0001 a0008c0014t0001 a0013c0016t0001	a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 others(109): Show a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0261 a0001c0001t0001g0302 a0001c0001t0001g0313 a0001c0001t0001g0354 a0001c0001t0002g0241 a0002c0002t0002g0063 a0002c0002t0002g0093 a0002c0002t0007g0340 a0007c0007t0001g0125 a0007c0007t0001g0126 a0008c0014t0001g0223 a0013c0016t0001g0171	112	248	0.4516	1	c.287 others(6): Show c.287-8dupT		AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	5/18					chr11	TogoVar
AGBL2_chr11_47654591_47720369	47705641	C C	CAA CAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp2 HG00544.hp1 HG00597.hp2 others(82): Show HG00280.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00733.hp2 HG01081.hp1 HG01099.hp2 HG01243.hp1 HG01255.hp1 HG01496.hp1 HG01978.hp1 HG02056.hp1 HG02083.hp2 HG02109.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02698.hp2 HG02717.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG03130.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03704.hp2 HG03831.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18941.hp1 NA18942.hp1 NA18945.hp1 NA18947.hp2 NA18949.hp1 NA18952.hp1 NA18953.hp2 NA18957.hp1 NA18959.hp1 NA18964.hp2 NA18970.hp1 NA18972.hp2 NA18977.hp1 NA18979.hp1 NA18987.hp1 NA18989.hp2 NA18991.hp2 NA18992.hp2 NA18993.hp2 NA18999.hp2 NA19004.hp2 NA19007.hp2 NA19043.hp1 NA19043.hp2 NA19062.hp1 NA19063.hp1 NA19066.hp2 NA19074.hp1 NA19085.hp1 NA19089.hp2 NA19240.hp1 NA20129.hp2 NA20752.hp2	a0001 a0004 a0006 others(2): Show a0001 a0004 a0006 a0009 a0012	a0001c0001 a0004c0005 a0006c0006 others(2): Show a0001c0001 a0004c0005 a0006c0006 a0009c0011 a0012c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0004c0005t0001 a0006c0006t0001 a0009c0011t0001 a0012c0012t0001	a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 others(82): Show a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0326 a0001c0001t0001g0328 a0001c0001t0001g0331 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0003g0265 a0001c0001t0003g0280 a0001c0001t0003g0308 a0001c0001t0005g0329 a0001c0001t0005g0330 a0001c0001t0006g0325 a0004c0005t0001g0273 a0004c0005t0001g0303 a0004c0005t0001g0306 a0006c0006t0001g0292 a0006c0006t0001g0304 a0006c0006t0001g0305 a0009c0011t0001g0211 a0012c0012t0001g0324	85	221	0.3846	2	c.287 others(13): Show c.287-9_287-8dupTT		AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	5/18					chr11	TogoVar
AGBL2_chr11_47654591_47720369	47705641	C C	CAAA CAAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp2 HG02071.hp2 HG02523.hp1 others(17): Show HG00408.hp2 HG02071.hp2 HG02523.hp1 HG02615.hp2 HG02896.hp2 HG02897.hp2 NA18957.hp2 NA18962.hp1 NA18967.hp2 NA18982.hp2 NA18983.hp1 NA18988.hp2 NA19002.hp2 NA19011.hp2 NA19055.hp1 NA19058.hp1 NA19080.hp2 NA19088.hp2 NA19091.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 others(17): Show a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0298 a0001c0001t0001g0301 a0001c0001t0001g0327 a0001c0001t0001g0332 a0001c0001t0001g0341 a0001c0001t0001g0348 a0001c0001t0001g0349	20	156	0.1282	3	c.287 others(15): Show c.287-10_287-8dupTTT		AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	5/18					chr11	TogoVar
AGBL2_chr11_47654591_47720369	47705924	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	354	0.0028	0	c.233 others(5): Show c.233-7T>C		AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	4/18					chr11	TogoVar
AGBL3_chr7_134981508_135140778	134987995	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02647.hp1 HG02647.hp1	a0010 a0010	a0010c0020 a0010c0020	a0010c0020t0001 a0010c0020t0001	a0010c0020t0001g0157 a0010c0020t0001g0157	1	318	0.0031	0	c.62C others(2): Show c.62C>T	p.Ser others(5): Show p.Ser21Leu	AGBL3	ENSG00000146856.14	transcript	ENST00000436302.6	protein_coding	2/17	315/3533	62/2763	21/920		chr7	TogoVar
AGBL3_chr7_134981508_135140778	135059235	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02257.hp2 NA19043.hp1 HG02257.hp2 NA19043.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0198 a0001c0006t0005g0277 a0001c0006t0005g0198 a0001c0006t0005g0277	2	318	0.0063	0	c.190 others(4): Show c.1908G>A	p.Gln others(6): Show p.Gln636Gln	AGBL3	ENSG00000146856.14	transcript	ENST00000436302.6	protein_coding	12/17	2161/3533	1908/2763	636/920		chr7	TogoVar
AGBL4_chr1_48527854_50028954	48653455	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01167.hp1 HG02976.hp2 HG03453.hp1 others(2): Show HG01167.hp1 HG02976.hp2 HG03453.hp1 HG03492.hp1 HG04204.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0010 a0001c0001 a0001c0002 a0005c0010	a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0002t0004 a0005c0010t0008	a0001c0001t0002g0097 a0001c0001t0004g0081 a0001c0001t0012g0055 others(2): Show a0001c0001t0002g0097 a0001c0001t0004g0081 a0001c0001t0012g0055 a0001c0002t0004g0076 a0005c0010t0008g0023	5	104	0.0481	0	c.725 others(5): Show c.725-4C>T		AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	7/13					chr1	TogoVar
AGBL4_chr1_48527854_50028954	49045576	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02132.hp2 HG03492.hp1 HG04204.hp2 others(2): Show HG02132.hp2 HG03492.hp1 HG04204.hp2 NA18962.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0001t0015	a0001c0001t0002g0056 a0001c0001t0004g0104 a0001c0001t0012g0054 others(2): Show a0001c0001t0002g0056 a0001c0001t0004g0104 a0001c0001t0012g0054 a0001c0001t0012g0055 a0001c0001t0015g0058	5	104	0.0481	0	c.594 others(5): Show c.594+8C>T		AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	5/13					chr1	TogoVar
AGBL5_chr2_27046668_27075618	27054631	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00280.hp2 HG00280.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0001 a0006c0014t0001	a0006c0014t0001g0021 a0006c0014t0001g0021	1	332	0.0030	0	c.553 others(3): Show c.553C>T	p.Pro others(6): Show p.Pro185Ser	AGBL5	ENSG00000084693.16	transcript	ENST00000360131.5	protein_coding	5/15	725/3188	553/2661	185/886		chr2	TogoVar
AGBL5_chr2_27046668_27075618	27056145	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00438.hp1 HG00544.hp1 HG00597.hp1 others(56): Show HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01106.hp2 HG01109.hp2 HG01358.hp1 HG01928.hp1 HG01943.hp2 HG01981.hp2 HG02074.hp1 HG02083.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02258.hp2 HG02300.hp2 HG02523.hp1 HG02886.hp1 HG04204.hp1 NA18612.hp1 NA18747.hp1 NA18941.hp2 NA18944.hp2 NA18945.hp2 NA18949.hp1 NA18951.hp1 NA18955.hp2 NA18956.hp2 NA18959.hp2 NA18964.hp1 NA18967.hp2 NA18968.hp2 NA18972.hp2 NA18980.hp2 NA18982.hp2 NA18985.hp2 NA18986.hp1 NA18988.hp2 NA18991.hp2 NA18993.hp1 NA19001.hp2 NA19002.hp2 NA19005.hp2 NA19009.hp2 NA19056.hp2 NA19058.hp2 NA19065.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19075.hp2 NA19082.hp2 NA19084.hp1 NA20752.hp1 NA20805.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0006 a0008c0008 a0001c0001 a0001c0006 a0008c0008	a0001c0001t0001 a0001c0006t0001 a0008c0008t0001 a0001c0001t0001 a0001c0006t0001 a0008c0008t0001	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0023 others(24): Show a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0050 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0184 a0001c0006t0001g0146 a0001c0006t0001g0147 a0008c0008t0001g0148	59	332	0.1777	0	c.136 others(6): Show c.1365+7A>G		AGBL5	ENSG00000084693.16	transcript	ENST00000360131.5	protein_coding	7/14					chr2	TogoVar
AGER_chr6_32175969_32189253	32181483	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00741.hp1 HG01175.hp2 HG02145.hp1 others(27): Show HG00741.hp1 HG01175.hp2 HG02145.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp2 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG03017.hp1 HG03041.hp2 HG03471.hp2 HG03579.hp1 HG04228.hp2 NA18953.hp2 NA18954.hp2 NA18979.hp1 NA18980.hp2 NA19076.hp2 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0024 others(2): Show a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0003g0025	30	460	0.0652	0	c.992 others(5): Show c.992-6G>A		AGER	ENSG00000204305.16	transcript	ENST00000375076.9	protein_coding	9/10					chr6	TogoVar
AGER_chr6_32175969_32189253	32183108	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0025 a0001c0001t0003g0025	1	460	0.0022	0	c.508 others(5): Show c.508+6T>C		AGER	ENSG00000204305.16	transcript	ENST00000375076.9	protein_coding	5/10					chr6	TogoVar
AGFG2_chr7_100534203_100573220	100548818	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03225.hp2 HG03453.hp2 NA19030.hp2 HG03225.hp2 HG03453.hp2 NA19030.hp2	a0002 a0010 a0002 a0010	a0002c0002 a0010c0009 a0002c0002 a0010c0009	a0002c0002t0001 a0010c0009t0001 a0002c0002t0001 a0010c0009t0001	a0002c0002t0001g0022 a0002c0002t0001g0177 a0010c0009t0001g0058 a0002c0002t0001g0022 a0002c0002t0001g0177 a0010c0009t0001g0058	3	244	0.0123	0	c.222 others(5): Show c.222-4A>G		AGFG2	ENSG00000106351.13	transcript	ENST00000300176.9	protein_coding	1/11					chr7	TogoVar
AGGF1_chr5_77025404_77070234	77034526	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00642.hp2 HG02258.hp2 HG02559.hp1 others(4): Show HG00642.hp2 HG02258.hp2 HG02559.hp1 HG03139.hp2 HG03516.hp1 NA18906.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0253 a0001c0002t0001g0222 a0001c0002t0001g0223 others(4): Show a0001c0001t0001g0253 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257	7	436	0.0161	0	c.313 others(5): Show c.313+6T>C		AGGF1	ENSG00000164252.13	transcript	ENST00000312916.12	protein_coding	2/13					chr5	TogoVar
AGGF1_chr5_77025404_77070234	77061699	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02486.hp2 HG02895.hp2 HG02970.hp2 others(5): Show HG02486.hp2 HG02895.hp2 HG02970.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0017 a0001c0001t0008 a0001c0001t0017	a0001c0001t0008g0031 a0001c0001t0008g0212 a0001c0001t0008g0213 others(4): Show a0001c0001t0008g0031 a0001c0001t0008g0212 a0001c0001t0008g0213 a0001c0001t0008g0351 a0001c0001t0008g0352 a0001c0001t0017g0350 a0001c0001t0017g0353	8	436	0.0183	0	c.184 others(6): Show c.1845-4A>G		AGGF1	ENSG00000164252.13	transcript	ENST00000312916.12	protein_coding	12/13					chr5	TogoVar
AGK_chr7_141546410_141660244	141555572	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0265 a0001c0001t0003g0265	1	272	0.0037	0	c.101 others(5): Show c.101+5C>T		AGK	ENSG00000006530.18	transcript	ENST00000649286.2	protein_coding	2/15					chr7	TogoVar
AGK_chr7_141546410_141660244	141615467	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	272	0.0037	0	c.424 others(5): Show c.424-4C>G		AGK	ENSG00000006530.18	transcript	ENST00000649286.2	protein_coding	7/15					chr7	TogoVar
AGL_chr1_99845361_99929020	99877634	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02293.hp2 HG02293.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0181 a0003c0006t0001g0181	1	316	0.0032	0	c.142 others(6): Show c.1424-7T>A		AGL	ENSG00000162688.17	transcript	ENST00000361915.8	protein_coding	11/33					chr1	TogoVar

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