Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	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
ERI1_chr8_8997897_9038338	9007935	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0056 a0001c0006t0056	a0001c0006t0056g0089 a0001c0006t0056g0089	1	426	0.0024	-11	c.109 others(23): Show c.109-16_109-6delTTTTTTTTTTT		ERI1	ENSG00000104626.15	transcript	ENST00000250263.8	protein_coding	1/6				INFO_REALIGN_3_PRIME	chr8	TogoVar
ERI1_chr8_8997897_9038338	9007935	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp1 HG02451.hp1 HG02486.hp2 others(2): Show HG01891.hp1 HG02451.hp1 HG02486.hp2 HG02622.hp2 HG03471.hp2	a0003 a0003	a0003c0007 a0003c0010 a0003c0007 a0003c0010	a0003c0007t0023 a0003c0007t0042 a0003c0007t0053 others(1): Show a0003c0007t0023 a0003c0007t0042 a0003c0007t0053 a0003c0010t0059	a0003c0007t0023g0268 a0003c0007t0023g0269 a0003c0007t0042g0270 others(2): Show a0003c0007t0023g0268 a0003c0007t0023g0269 a0003c0007t0042g0270 a0003c0007t0053g0271 a0003c0010t0059g0301	5	426	0.0117	-12	c.109 others(24): Show c.109-17_109-6delTTTTTTTTTTTT		ERI1	ENSG00000104626.15	transcript	ENST00000250263.8	protein_coding	1/6				INFO_REALIGN_3_PRIME	chr8	TogoVar
ERI1_chr8_8997897_9038338	9007935	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0079 a0001c0002t0015g0079	1	426	0.0024	-13	c.109 others(25): Show c.109-18_109-6delTTTTTTTTTTTTT		ERI1	ENSG00000104626.15	transcript	ENST00000250263.8	protein_coding	1/6				INFO_REALIGN_3_PRIME	chr8	TogoVar
ERI1_chr8_8997897_9038338	9007935	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01081.hp2 NA20805.hp1 HG01081.hp2 NA20805.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0016 a0002c0003t0016	a0002c0003t0016g0311 a0002c0003t0016g0337 a0002c0003t0016g0311 a0002c0003t0016g0337	2	426	0.0047	-15	c.109 others(27): Show c.109-20_109-6delTTTTTTTTTTTTTTT		ERI1	ENSG00000104626.15	transcript	ENST00000250263.8	protein_coding	1/6				INFO_REALIGN_3_PRIME	chr8	TogoVar
ERI1_chr8_8997897_9038338	9007935	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01168.hp2 HG01168.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0016 a0002c0003t0016	a0002c0003t0016g0336 a0002c0003t0016g0336	1	426	0.0024	-16	c.109 others(28): Show c.109-21_109-6delTTTTTTTTTTTTTTTT		ERI1	ENSG00000104626.15	transcript	ENST00000250263.8	protein_coding	1/6				INFO_REALIGN_3_PRIME	chr8	TogoVar
ERI1_chr8_8997897_9038338	9016324	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA20905.hp1 NA20905.hp1	a0000 a0000	a0000c0012 a0000c0012	a0000c0012t0001 a0000c0012t0001	a0000c0012t0001g0237 a0000c0012t0001g0237	1	426	0.0024	0	c.501 others(3): Show c.501A>G	p.Glu others(6): Show p.Glu167Glu	ERI1	ENSG00000104626.15	transcript	ENST00000250263.8	protein_coding	4/7	668/4521	501/1050	167/349		chr8	TogoVar
ERICH1_chr8_659200_736224	715858	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp1 HG00639.hp1 HG01070.hp2 others(26): Show HG00323.hp1 HG00639.hp1 HG01070.hp2 HG01071.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01517.hp2 HG02602.hp2 HG02698.hp1 HG02723.hp2 HG02735.hp2 HG03017.hp1 HG03041.hp2 HG03453.hp1 HG03710.hp1 HG04184.hp1 HG04204.hp1 NA18956.hp2 NA18977.hp2 NA18985.hp1 NA18985.hp2 NA18991.hp2 NA19002.hp1 NA20300.hp1 NA20905.hp1 NA21309.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0008 a0012	a0001c0001 a0001c0002 a0003c0004 others(3): Show a0001c0001 a0001c0002 a0003c0004 a0004c0006 a0008c0016 a0012c0017	a0001c0001t0002 a0001c0002t0002 a0001c0002t0005 others(4): Show a0001c0001t0002 a0001c0002t0002 a0001c0002t0005 a0003c0004t0002 a0004c0006t0002 a0008c0016t0002 a0012c0017t0002	a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0002t0002g0324 others(26): Show a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0002t0002g0324 a0001c0002t0002g0329 a0001c0002t0002g0333 a0001c0002t0002g0334 a0001c0002t0002g0335 a0001c0002t0002g0336 a0001c0002t0002g0337 a0001c0002t0002g0338 a0001c0002t0002g0339 a0001c0002t0002g0340 a0001c0002t0002g0341 a0001c0002t0002g0342 a0001c0002t0002g0343 a0001c0002t0002g0344 a0001c0002t0002g0345 a0001c0002t0002g0346 a0001c0002t0002g0347 a0001c0002t0002g0348 a0001c0002t0002g0350 a0001c0002t0005g0243 a0003c0004t0002g0322 a0003c0004t0002g0323 a0004c0006t0002g0250 a0004c0006t0002g0251 a0004c0006t0002g0325 a0008c0016t0002g0326 a0012c0017t0002g0366	29	378	0.0767	0	c.169 others(5): Show c.169+3G>A		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5					chr8	TogoVar
ERICH3_chr1_74563123_74678792	74571099	T T	C C	splice_region_variant splice_region_variant	LOW	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(278): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01358.hp1 HG01358.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19083.hp1 NA19083.hp2 NA19086.hp1 NA19086.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(27): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0027 a0028 a0029 a0030 a0031 a0032	a0001c0001 a0001c0008 a0001c0025 others(38): Show a0001c0001 a0001c0008 a0001c0025 a0002c0002 a0002c0010 a0003c0003 a0004c0005 a0004c0007 a0004c0014 a0004c0026 a0004c0033 a0004c0038 a0005c0004 a0005c0028 a0007c0009 a0008c0013 a0008c0027 a0009c0011 a0010c0012 a0011c0018 a0012c0015 a0013c0016 a0014c0035 a0014c0036 a0015c0017 a0016c0019 a0017c0020 a0018c0022 a0019c0021 a0020c0023 a0021c0042 a0022c0039 a0023c0040 a0024c0041 a0025c0029 a0027c0032 a0028c0030 a0029c0034 a0030c0037 a0031c0024 a0032c0043	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(49): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 a0001c0008t0001 a0001c0008t0002 a0001c0025t0001 a0002c0002t0001 a0002c0002t0008 a0002c0002t0014 a0002c0002t0015 a0002c0010t0001 a0003c0003t0001 a0003c0003t0002 a0004c0005t0001 a0004c0005t0011 a0004c0007t0004 a0004c0014t0001 a0004c0014t0013 a0004c0026t0001 a0004c0033t0001 a0004c0038t0001 a0005c0004t0001 a0005c0028t0001 a0007c0009t0005 a0008c0013t0001 a0008c0013t0007 a0008c0027t0001 a0009c0011t0001 a0010c0012t0006 a0011c0018t0001 a0012c0015t0001 a0013c0016t0002 a0014c0035t0001 a0014c0036t0012 a0015c0017t0001 a0016c0019t0002 a0017c0020t0001 a0018c0022t0001 a0019c0021t0007 a0020c0023t0001 a0021c0042t0001 a0022c0039t0001 a0023c0040t0001 a0024c0041t0002 a0025c0029t0001 a0027c0032t0001 a0028c0030t0002 a0029c0034t0002 a0030c0037t0001 a0031c0024t0001 a0032c0043t0001	a0001c0001t0001g0005 a0001c0001t0002g0008 a0001c0001t0002g0012 others(266): Show a0001c0001t0001g0005 a0001c0001t0002g0008 a0001c0001t0002g0012 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0051 a0001c0001t0002g0057 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0066 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0086 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0118 a0001c0001t0002g0122 a0001c0001t0002g0131 a0001c0001t0002g0155 a0001c0001t0002g0163 a0001c0001t0002g0174 a0001c0001t0002g0181 a0001c0001t0002g0185 a0001c0001t0002g0198 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0255 a0001c0001t0002g0260 a0001c0001t0002g0266 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0277 a0001c0001t0009g0244 a0001c0001t0010g0049 a0001c0008t0001g0234 a0001c0008t0002g0009 a0001c0008t0002g0024 a0001c0008t0002g0085 a0001c0025t0001g0139 a0002c0002t0001g0011 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0037 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0044 a0002c0002t0001g0050 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0092 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0102 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0132 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0147 a0002c0002t0001g0157 a0002c0002t0001g0166 a0002c0002t0001g0170 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0219 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0008g0048 a0002c0002t0014g0145 a0002c0002t0015g0278 a0002c0010t0001g0093 a0002c0010t0001g0094 a0002c0010t0001g0116 a0002c0010t0001g0164 a0003c0003t0001g0002 a0003c0003t0001g0003 a0003c0003t0001g0004 a0003c0003t0001g0007 a0003c0003t0001g0028 a0003c0003t0001g0029 a0003c0003t0001g0056 a0003c0003t0001g0058 a0003c0003t0001g0071 a0003c0003t0001g0072 a0003c0003t0001g0073 a0003c0003t0001g0074 a0003c0003t0001g0076 a0003c0003t0001g0078 a0003c0003t0001g0082 a0003c0003t0001g0084 a0003c0003t0001g0101 a0003c0003t0001g0103 a0003c0003t0001g0112 a0003c0003t0001g0113 a0003c0003t0001g0114 a0003c0003t0001g0117 a0003c0003t0001g0126 a0003c0003t0001g0140 a0003c0003t0001g0159 a0003c0003t0001g0161 a0003c0003t0001g0168 a0003c0003t0001g0199 a0003c0003t0001g0200 a0003c0003t0001g0201 a0003c0003t0001g0202 a0003c0003t0001g0203 a0003c0003t0001g0204 a0003c0003t0001g0205 a0003c0003t0001g0206 a0003c0003t0001g0208 a0003c0003t0001g0209 a0003c0003t0001g0212 a0003c0003t0001g0213 a0003c0003t0001g0245 a0003c0003t0001g0256 a0003c0003t0001g0258 a0003c0003t0001g0259 a0003c0003t0001g0264 a0003c0003t0001g0265 a0003c0003t0001g0276 a0003c0003t0002g0191 a0004c0005t0001g0001 a0004c0005t0001g0015 a0004c0005t0001g0059 a0004c0005t0001g0062 a0004c0005t0001g0083 a0004c0005t0001g0088 a0004c0005t0001g0119 a0004c0005t0001g0133 a0004c0005t0001g0154 a0004c0005t0001g0158 a0004c0005t0001g0167 a0004c0005t0001g0189 a0004c0005t0001g0195 a0004c0005t0001g0214 a0004c0005t0011g0087 a0004c0007t0004g0031 a0004c0007t0004g0046 a0004c0007t0004g0149 a0004c0007t0004g0150 a0004c0007t0004g0151 a0004c0007t0004g0180 a0004c0014t0001g0190 a0004c0014t0013g0013 a0004c0026t0001g0179 a0004c0033t0001g0120 a0004c0038t0001g0160 a0005c0004t0001g0006 a0005c0004t0001g0016 a0005c0004t0001g0068 a0005c0004t0001g0069 a0005c0004t0001g0070 a0005c0004t0001g0090 a0005c0004t0001g0104 a0005c0004t0001g0105 a0005c0004t0001g0106 a0005c0004t0001g0123 a0005c0004t0001g0172 a0005c0004t0001g0173 a0005c0004t0001g0182 a0005c0004t0001g0183 a0005c0004t0001g0184 a0005c0004t0001g0194 a0005c0004t0001g0216 a0005c0004t0001g0246 a0005c0004t0001g0263 a0005c0004t0001g0275 a0005c0028t0001g0030 a0007c0009t0005g0017 a0007c0009t0005g0055 a0007c0009t0005g0144 a0007c0009t0005g0152 a0008c0013t0001g0125 a0008c0013t0001g0175 a0008c0013t0007g0148 a0008c0027t0001g0197 a0009c0011t0001g0014 a0009c0011t0001g0115 a0009c0011t0001g0188 a0010c0012t0006g0027 a0010c0012t0006g0165 a0010c0012t0006g0169 a0011c0018t0001g0038 a0011c0018t0001g0043 a0012c0015t0001g0124 a0012c0015t0001g0153 a0013c0016t0002g0010 a0014c0035t0001g0207 a0014c0036t0012g0067 a0015c0017t0001g0047 a0015c0017t0001g0257 a0016c0019t0002g0075 a0016c0019t0002g0215 a0017c0020t0001g0025 a0018c0022t0001g0121 a0019c0021t0007g0171 a0020c0023t0001g0162 a0021c0042t0001g0045 a0022c0039t0001g0026 a0023c0040t0001g0100 a0024c0041t0002g0193 a0025c0029t0001g0143 a0027c0032t0001g0156 a0028c0030t0002g0127 a0029c0034t0002g0032 a0030c0037t0001g0192 a0031c0024t0001g0018 a0032c0043t0001g0054	281	290	0.9690	0	c.18 others(3): Show c.18A>G		ERICH3	ENSG00000178965.14	transcript	ENST00000326665.10	protein_coding	14/15					chr1	TogoVar
ERICH3_chr1_74563123_74678792	74576942	TA TA	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp2 HG02647.hp2 HG02717.hp2 others(6): Show HG00323.hp2 HG02647.hp2 HG02717.hp2 HG02976.hp2 HG03041.hp1 HG03486.hp2 HG03491.hp2 NA18972.hp1 NA19074.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0004c0014 a0005c0004	a0001c0001t0002 a0002c0002t0001 a0003c0003t0001 others(2): Show a0001c0001t0002 a0002c0002t0001 a0003c0003t0001 a0004c0014t0013 a0005c0004t0001	a0001c0001t0002g0118 a0002c0002t0001g0052 a0002c0002t0001g0252 others(6): Show a0001c0001t0002g0118 a0002c0002t0001g0052 a0002c0002t0001g0252 a0003c0003t0001g0114 a0004c0014t0013g0013 a0005c0004t0001g0106 a0005c0004t0001g0182 a0005c0004t0001g0183 a0005c0004t0001g0184	9	290	0.0310	-1	c.217 others(7): Show c.2177-7delT		ERICH3	ENSG00000178965.14	transcript	ENST00000326665.10	protein_coding	12/14					chr1	TogoVar
ERICH3_chr1_74563123_74678792	74620728	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00438.hp2 HG00621.hp2 others(62): Show HG00140.hp1 HG00438.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01257.hp1 HG01358.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG02056.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02523.hp1 HG02735.hp2 HG03130.hp2 HG03209.hp1 HG03239.hp1 HG03486.hp1 HG03579.hp2 HG03688.hp2 HG03831.hp2 HG03927.hp2 HG04199.hp1 NA18941.hp2 NA18943.hp2 NA18950.hp2 NA18954.hp2 NA18962.hp1 NA18967.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18977.hp1 NA18978.hp1 NA18984.hp1 NA18986.hp2 NA18992.hp1 NA18999.hp1 NA19001.hp1 NA19001.hp2 NA19005.hp2 NA19006.hp1 NA19060.hp1 NA19062.hp1 NA19068.hp2 NA19074.hp1 NA19083.hp2 NA19086.hp1 NA19091.hp1 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0003 a0005 a0014 others(5): Show a0003 a0005 a0014 a0015 a0016 a0020 a0021 a0030	a0003c0003 a0005c0004 a0005c0028 others(7): Show a0003c0003 a0005c0004 a0005c0028 a0014c0035 a0014c0036 a0015c0017 a0016c0019 a0020c0023 a0021c0042 a0030c0037	a0003c0003t0001 a0003c0003t0002 a0005c0004t0001 others(8): Show a0003c0003t0001 a0003c0003t0002 a0005c0004t0001 a0005c0028t0001 a0014c0035t0001 a0014c0036t0012 a0015c0017t0001 a0016c0019t0002 a0020c0023t0001 a0021c0042t0001 a0030c0037t0001	a0003c0003t0001g0002 a0003c0003t0001g0003 a0003c0003t0001g0007 others(58): Show a0003c0003t0001g0002 a0003c0003t0001g0003 a0003c0003t0001g0007 a0003c0003t0001g0028 a0003c0003t0001g0029 a0003c0003t0001g0058 a0003c0003t0001g0071 a0003c0003t0001g0072 a0003c0003t0001g0073 a0003c0003t0001g0074 a0003c0003t0001g0101 a0003c0003t0001g0113 a0003c0003t0001g0114 a0003c0003t0001g0117 a0003c0003t0001g0126 a0003c0003t0001g0199 a0003c0003t0001g0200 a0003c0003t0001g0201 a0003c0003t0001g0202 a0003c0003t0001g0203 a0003c0003t0001g0204 a0003c0003t0001g0205 a0003c0003t0001g0206 a0003c0003t0001g0208 a0003c0003t0001g0209 a0003c0003t0001g0212 a0003c0003t0001g0213 a0003c0003t0001g0245 a0003c0003t0001g0256 a0003c0003t0001g0258 a0003c0003t0001g0259 a0003c0003t0001g0264 a0003c0003t0001g0265 a0003c0003t0001g0276 a0003c0003t0002g0191 a0005c0004t0001g0006 a0005c0004t0001g0016 a0005c0004t0001g0068 a0005c0004t0001g0069 a0005c0004t0001g0070 a0005c0004t0001g0090 a0005c0004t0001g0104 a0005c0004t0001g0105 a0005c0004t0001g0123 a0005c0004t0001g0172 a0005c0004t0001g0173 a0005c0004t0001g0194 a0005c0004t0001g0216 a0005c0004t0001g0246 a0005c0004t0001g0263 a0005c0004t0001g0275 a0005c0028t0001g0030 a0014c0035t0001g0207 a0014c0036t0012g0067 a0015c0017t0001g0047 a0015c0017t0001g0257 a0016c0019t0002g0075 a0016c0019t0002g0215 a0020c0023t0001g0162 a0021c0042t0001g0045 a0030c0037t0001g0192	65	290	0.2241	0	c.100 others(6): Show c.1000+6C>G		ERICH3	ENSG00000178965.14	transcript	ENST00000326665.10	protein_coding	8/14					chr1	TogoVar
ERICH3_chr1_74563123_74678792	74643097	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01255.hp2 HG03098.hp1 HG01255.hp2 HG03098.hp1	a0018 a0019 a0018 a0019	a0018c0022 a0019c0021 a0018c0022 a0019c0021	a0018c0022t0001 a0019c0021t0007 a0018c0022t0001 a0019c0021t0007	a0018c0022t0001g0121 a0019c0021t0007g0171 a0018c0022t0001g0121 a0019c0021t0007g0171	2	290	0.0069	0	c.245 others(3): Show c.245G>A	p.Arg others(5): Show p.Arg82His	ERICH3	ENSG00000178965.14	transcript	ENST00000326665.10	protein_coding	4/15	518/7201	245/4593	82/1530		chr1	TogoVar
ERICH6B_chr13_45536294_45620739	45541295	T T	C C	splice_region_variant splice_region_variant	LOW	HG01070.hp2 HG01071.hp1 HG01074.hp2 others(52): Show HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01109.hp1 HG01192.hp2 HG01361.hp1 HG01496.hp1 HG01934.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03654.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA19240.hp2 NA21309.hp1 NA21309.hp2	a0002 a0003 a0004 others(14): Show a0002 a0003 a0004 a0005 a0006 a0007 a0011 a0012 a0013 a0015 a0018 a0025 a0026 a0027 a0029 a0030 a0031	a0002c0002 a0003c0003 a0003c0026 others(17): Show a0002c0002 a0003c0003 a0003c0026 a0003c0043 a0004c0004 a0005c0033 a0006c0006 a0007c0008 a0007c0010 a0011c0012 a0012c0013 a0013c0034 a0015c0014 a0018c0020 a0025c0038 a0026c0027 a0027c0032 a0029c0029 a0030c0047 a0031c0045	a0002c0002t0002 a0003c0003t0002 a0003c0026t0002 others(17): Show a0002c0002t0002 a0003c0003t0002 a0003c0026t0002 a0003c0043t0002 a0004c0004t0002 a0005c0033t0002 a0006c0006t0002 a0007c0008t0002 a0007c0010t0002 a0011c0012t0002 a0012c0013t0002 a0013c0034t0002 a0015c0014t0002 a0018c0020t0002 a0025c0038t0002 a0026c0027t0002 a0027c0032t0002 a0029c0029t0002 a0030c0047t0002 a0031c0045t0002	a0002c0002t0002g0276 a0002c0002t0002g0277 a0003c0003t0002g0087 others(49): Show a0002c0002t0002g0276 a0002c0002t0002g0277 a0003c0003t0002g0087 a0003c0003t0002g0149 a0003c0003t0002g0180 a0003c0003t0002g0297 a0003c0026t0002g0127 a0003c0043t0002g0294 a0004c0004t0002g0131 a0004c0004t0002g0211 a0004c0004t0002g0284 a0005c0033t0002g0291 a0006c0006t0002g0002 a0006c0006t0002g0032 a0006c0006t0002g0033 a0006c0006t0002g0050 a0006c0006t0002g0100 a0006c0006t0002g0143 a0006c0006t0002g0148 a0006c0006t0002g0150 a0006c0006t0002g0205 a0006c0006t0002g0221 a0006c0006t0002g0235 a0006c0006t0002g0275 a0006c0006t0002g0306 a0007c0008t0002g0031 a0007c0008t0002g0210 a0007c0008t0002g0296 a0007c0008t0002g0300 a0007c0008t0002g0303 a0007c0008t0002g0307 a0007c0008t0002g0308 a0007c0010t0002g0011 a0007c0010t0002g0104 a0007c0010t0002g0206 a0007c0010t0002g0229 a0007c0010t0002g0231 a0011c0012t0002g0304 a0012c0013t0002g0036 a0012c0013t0002g0194 a0012c0013t0002g0293 a0013c0034t0002g0042 a0015c0014t0002g0014 a0015c0014t0002g0255 a0018c0020t0002g0223 a0018c0020t0002g0240 a0025c0038t0002g0295 a0026c0027t0002g0024 a0027c0032t0002g0140 a0029c0029t0002g0259 a0030c0047t0002g0213 a0031c0045t0002g0219	55	326	0.1687	0	c.16 others(4): Show c.167A>G		ERICH6B	ENSG00000165837.12	transcript	ENST00000298738.3	protein_coding	15/15					chr13	TogoVar
ERICH6B_chr13_45536294_45620739	45563796	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02723.hp2 HG02723.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0041 a0003c0003t0001g0041	1	326	0.0031	0	c.118 others(6): Show c.1188-8C>A		ERICH6B	ENSG00000165837.12	transcript	ENST00000298738.3	protein_coding	9/14					chr13	TogoVar
ERICH6B_chr13_45536294_45620739	45587063	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0017 a0017	a0017c0018 a0017c0018	a0017c0018t0001 a0017c0018t0001	a0017c0018t0001g0299 a0017c0018t0001g0302 a0017c0018t0001g0299 a0017c0018t0001g0302	2	326	0.0061	0	c.856 others(3): Show c.856G>A	p.Val others(6): Show p.Val286Ile	ERICH6B	ENSG00000165837.12	transcript	ENST00000298738.3	protein_coding	5/15	1021/2424	856/2091	286/696		chr13	TogoVar
ERICH6B_chr13_45536294_45620739	45607621	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01070.hp2 HG01192.hp2 HG02145.hp1 others(18): Show HG01070.hp2 HG01192.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp2 HG02486.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG03041.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03486.hp2	a0002 a0003 a0006 others(5): Show a0002 a0003 a0006 a0007 a0011 a0017 a0019 a0025	a0002c0002 a0003c0003 a0006c0006 others(6): Show a0002c0002 a0003c0003 a0006c0006 a0007c0008 a0007c0010 a0011c0012 a0017c0018 a0019c0023 a0025c0038	a0002c0002t0001 a0003c0003t0002 a0006c0006t0002 others(7): Show a0002c0002t0001 a0003c0003t0002 a0006c0006t0002 a0007c0008t0002 a0007c0010t0002 a0011c0012t0001 a0011c0012t0002 a0017c0018t0001 a0019c0023t0001 a0025c0038t0002	a0002c0002t0001g0301 a0003c0003t0002g0297 a0006c0006t0002g0306 others(17): Show a0002c0002t0001g0301 a0003c0003t0002g0297 a0006c0006t0002g0306 a0007c0008t0002g0031 a0007c0008t0002g0296 a0007c0008t0002g0300 a0007c0008t0002g0303 a0007c0008t0002g0307 a0007c0008t0002g0308 a0007c0010t0002g0011 a0007c0010t0002g0104 a0007c0010t0002g0206 a0007c0010t0002g0229 a0007c0010t0002g0231 a0011c0012t0001g0305 a0011c0012t0002g0304 a0017c0018t0001g0299 a0017c0018t0001g0302 a0019c0023t0001g0230 a0025c0038t0002g0295	21	326	0.0644	0	c.-11 others(6): Show c.-110-6C>T		ERICH6B	ENSG00000165837.12	transcript	ENST00000298738.3	protein_coding	1/14					chr13	TogoVar
ERICH6B_chr13_45536294_45620739	45615685	C C	T T	splice_region_variant splice_region_variant	LOW	HG03516.hp1 HG03516.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0018 a0003c0003t0004g0018	1	326	0.0031	0	c.-11 others(4): Show c.-111G>A		ERICH6B	ENSG00000165837.12	transcript	ENST00000298738.3	protein_coding	1/15					chr13	TogoVar
ERICH6_chr3_150654885_150708920	150659887	C C	G G	splice_region_variant splice_region_variant	LOW	HG00408.hp1 HG00609.hp1 HG00609.hp2 others(19): Show HG00408.hp1 HG00609.hp1 HG00609.hp2 HG01192.hp2 HG01243.hp1 HG02040.hp2 HG02109.hp2 HG02738.hp2 HG03130.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG06807.hp2 NA18612.hp1 NA18941.hp1 NA18973.hp1 NA18981.hp2 NA18983.hp1 NA19068.hp1 NA19085.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0010 a0011 a0017 a0024 a0027	a0001c0002 a0002c0001 a0003c0004 others(7): Show a0001c0002 a0002c0001 a0003c0004 a0003c0006 a0004c0005 a0010c0011 a0011c0013 a0017c0038 a0024c0034 a0027c0031	a0001c0002t0002 a0002c0001t0002 a0003c0004t0002 others(7): Show a0001c0002t0002 a0002c0001t0002 a0003c0004t0002 a0003c0006t0002 a0004c0005t0002 a0010c0011t0002 a0011c0013t0002 a0017c0038t0002 a0024c0034t0002 a0027c0031t0002	a0001c0002t0002g0247 a0001c0002t0002g0282 a0002c0001t0002g0036 others(18): Show a0001c0002t0002g0247 a0001c0002t0002g0282 a0002c0001t0002g0036 a0003c0004t0002g0182 a0003c0004t0002g0192 a0003c0004t0002g0195 a0003c0006t0002g0259 a0003c0006t0002g0289 a0004c0005t0002g0006 a0004c0005t0002g0035 a0004c0005t0002g0068 a0004c0005t0002g0070 a0004c0005t0002g0095 a0004c0005t0002g0103 a0004c0005t0002g0112 a0004c0005t0002g0129 a0010c0011t0002g0318 a0011c0013t0002g0312 a0017c0038t0002g0309 a0024c0034t0002g0294 a0027c0031t0002g0173	22	348	0.0632	0	c.5G others(2): Show c.5G>C		ERICH6	ENSG00000163645.15	transcript	ENST00000295910.11	protein_coding	14/14					chr3	TogoVar
ERICH6_chr3_150654885_150708920	150667014	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02145.hp2 HG02258.hp1 HG02280.hp1 others(10): Show HG02145.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02970.hp2 HG03453.hp2 HG03579.hp1	a0008 a0009 a0019 others(1): Show a0008 a0009 a0019 a0034	a0008c0009 a0009c0012 a0019c0023 others(1): Show a0008c0009 a0009c0012 a0019c0023 a0034c0040	a0008c0009t0001 a0009c0012t0001 a0019c0023t0001 others(1): Show a0008c0009t0001 a0009c0012t0001 a0019c0023t0001 a0034c0040t0001	a0008c0009t0001g0138 a0008c0009t0001g0139 a0008c0009t0001g0141 others(10): Show a0008c0009t0001g0138 a0008c0009t0001g0139 a0008c0009t0001g0141 a0008c0009t0001g0156 a0008c0009t0001g0157 a0008c0009t0001g0189 a0009c0012t0001g0315 a0009c0012t0001g0319 a0009c0012t0001g0320 a0009c0012t0001g0321 a0009c0012t0001g0322 a0019c0023t0001g0025 a0034c0040t0001g0332	13	348	0.0374	0	c.150 others(4): Show c.1501G>T	p.Val others(6): Show p.Val501Leu	ERICH6	ENSG00000163645.15	transcript	ENST00000295910.11	protein_coding	13/14	1523/2021	1501/1992	501/663		chr3	TogoVar
ERICH6_chr3_150654885_150708920	150667020	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(336): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18965.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19078.hp1 NA19078.hp2 NA19085.hp1 NA19085.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(31): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0035	a0001c0002 a0001c0003 a0002c0001 others(36): Show a0001c0002 a0001c0003 a0002c0001 a0002c0028 a0002c0029 a0003c0004 a0003c0006 a0004c0005 a0005c0007 a0006c0008 a0007c0010 a0007c0021 a0008c0009 a0009c0012 a0010c0011 a0011c0013 a0012c0014 a0013c0016 a0014c0015 a0015c0017 a0016c0018 a0017c0038 a0018c0022 a0019c0023 a0020c0024 a0022c0027 a0023c0025 a0024c0034 a0025c0030 a0026c0033 a0027c0031 a0028c0032 a0029c0036 a0030c0035 a0031c0037 a0032c0020 a0033c0019 a0034c0040 a0035c0039	a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 others(43): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0002c0001t0001 a0002c0001t0002 a0002c0028t0001 a0002c0029t0001 a0003c0004t0001 a0003c0004t0002 a0003c0006t0001 a0003c0006t0002 a0004c0005t0001 a0004c0005t0002 a0005c0007t0001 a0006c0008t0001 a0007c0010t0001 a0007c0021t0001 a0008c0009t0001 a0009c0012t0001 a0010c0011t0001 a0010c0011t0002 a0011c0013t0001 a0011c0013t0002 a0012c0014t0001 a0013c0016t0001 a0014c0015t0001 a0015c0017t0001 a0016c0018t0001 a0017c0038t0002 a0018c0022t0001 a0019c0023t0001 a0020c0024t0001 a0022c0027t0001 a0023c0025t0001 a0024c0034t0002 a0025c0030t0001 a0026c0033t0001 a0027c0031t0002 a0028c0032t0001 a0029c0036t0001 a0030c0035t0001 a0031c0037t0001 a0032c0020t0001 a0033c0019t0001 a0034c0040t0001 a0035c0039t0001	a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0204 others(323): Show a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0228 a0001c0002t0001g0231 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0246 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0283 a0001c0002t0001g0285 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0293 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0304 a0001c0002t0002g0247 a0001c0002t0002g0282 a0001c0003t0001g0007 a0001c0003t0001g0008 a0001c0003t0001g0140 a0001c0003t0001g0142 a0001c0003t0001g0143 a0001c0003t0001g0144 a0001c0003t0001g0149 a0001c0003t0001g0151 a0001c0003t0001g0152 a0001c0003t0001g0153 a0001c0003t0001g0154 a0001c0003t0001g0155 a0001c0003t0001g0159 a0001c0003t0001g0160 a0001c0003t0001g0161 a0001c0003t0001g0164 a0001c0003t0001g0165 a0001c0003t0001g0167 a0001c0003t0001g0168 a0001c0003t0001g0169 a0001c0003t0001g0170 a0001c0003t0001g0174 a0001c0003t0001g0175 a0001c0003t0001g0177 a0001c0003t0001g0179 a0001c0003t0001g0183 a0001c0003t0001g0184 a0001c0003t0001g0186 a0001c0003t0001g0190 a0001c0003t0001g0193 a0001c0003t0001g0194 a0001c0003t0001g0196 a0001c0003t0001g0197 a0001c0003t0001g0198 a0001c0003t0001g0199 a0002c0001t0001g0001 a0002c0001t0001g0002 a0002c0001t0001g0003 a0002c0001t0001g0004 a0002c0001t0001g0005 a0002c0001t0001g0029 a0002c0001t0001g0030 a0002c0001t0001g0031 a0002c0001t0001g0032 a0002c0001t0001g0034 a0002c0001t0001g0037 a0002c0001t0001g0038 a0002c0001t0001g0039 a0002c0001t0001g0040 a0002c0001t0001g0041 a0002c0001t0001g0042 a0002c0001t0001g0043 a0002c0001t0001g0044 a0002c0001t0001g0045 a0002c0001t0001g0046 a0002c0001t0001g0047 a0002c0001t0001g0048 a0002c0001t0001g0049 a0002c0001t0001g0050 a0002c0001t0001g0051 a0002c0001t0001g0053 a0002c0001t0001g0054 a0002c0001t0001g0055 a0002c0001t0001g0056 a0002c0001t0001g0057 a0002c0001t0001g0059 a0002c0001t0001g0060 a0002c0001t0001g0062 a0002c0001t0001g0064 a0002c0001t0001g0065 a0002c0001t0001g0066 a0002c0001t0001g0067 a0002c0001t0001g0071 a0002c0001t0001g0072 a0002c0001t0001g0073 a0002c0001t0001g0074 a0002c0001t0001g0075 a0002c0001t0001g0076 a0002c0001t0001g0077 a0002c0001t0001g0078 a0002c0001t0001g0079 a0002c0001t0001g0080 a0002c0001t0001g0081 a0002c0001t0001g0082 a0002c0001t0001g0083 a0002c0001t0001g0084 a0002c0001t0001g0086 a0002c0001t0001g0087 a0002c0001t0001g0088 a0002c0001t0001g0089 a0002c0001t0001g0090 a0002c0001t0001g0091 a0002c0001t0001g0092 a0002c0001t0001g0093 a0002c0001t0001g0094 a0002c0001t0001g0096 a0002c0001t0001g0097 a0002c0001t0001g0098 a0002c0001t0001g0099 a0002c0001t0001g0100 a0002c0001t0001g0101 a0002c0001t0001g0102 a0002c0001t0001g0104 a0002c0001t0001g0105 a0002c0001t0001g0106 a0002c0001t0001g0107 a0002c0001t0001g0109 a0002c0001t0001g0110 a0002c0001t0001g0111 a0002c0001t0001g0113 a0002c0001t0001g0114 a0002c0001t0001g0115 a0002c0001t0001g0116 a0002c0001t0001g0117 a0002c0001t0001g0118 a0002c0001t0001g0119 a0002c0001t0001g0120 a0002c0001t0001g0121 a0002c0001t0001g0122 a0002c0001t0001g0123 a0002c0001t0001g0124 a0002c0001t0001g0125 a0002c0001t0001g0128 a0002c0001t0001g0130 a0002c0001t0001g0132 a0002c0001t0001g0134 a0002c0001t0002g0036 a0002c0028t0001g0135 a0002c0029t0001g0137 a0003c0004t0001g0145 a0003c0004t0001g0146 a0003c0004t0001g0148 a0003c0004t0001g0158 a0003c0004t0001g0162 a0003c0004t0001g0163 a0003c0004t0001g0166 a0003c0004t0001g0171 a0003c0004t0001g0172 a0003c0004t0001g0178 a0003c0004t0001g0180 a0003c0004t0001g0181 a0003c0004t0001g0185 a0003c0004t0001g0188 a0003c0004t0001g0200 a0003c0004t0001g0201 a0003c0004t0001g0202 a0003c0004t0002g0182 a0003c0004t0002g0192 a0003c0004t0002g0195 a0003c0006t0001g0009 a0003c0006t0001g0206 a0003c0006t0001g0210 a0003c0006t0001g0211 a0003c0006t0001g0216 a0003c0006t0001g0220 a0003c0006t0001g0229 a0003c0006t0001g0230 a0003c0006t0001g0232 a0003c0006t0001g0233 a0003c0006t0001g0265 a0003c0006t0001g0278 a0003c0006t0001g0284 a0003c0006t0001g0288 a0003c0006t0002g0259 a0003c0006t0002g0289 a0004c0005t0001g0027 a0004c0005t0001g0052 a0004c0005t0001g0061 a0004c0005t0001g0063 a0004c0005t0001g0069 a0004c0005t0001g0127 a0004c0005t0001g0131 a0004c0005t0001g0133 a0004c0005t0002g0006 a0004c0005t0002g0035 a0004c0005t0002g0068 a0004c0005t0002g0070 a0004c0005t0002g0095 a0004c0005t0002g0103 a0004c0005t0002g0112 a0004c0005t0002g0129 a0005c0007t0001g0013 a0005c0007t0001g0245 a0005c0007t0001g0254 a0005c0007t0001g0295 a0005c0007t0001g0296 a0005c0007t0001g0303 a0006c0008t0001g0326 a0006c0008t0001g0327 a0006c0008t0001g0328 a0006c0008t0001g0330 a0006c0008t0001g0334 a0007c0010t0001g0016 a0007c0010t0001g0017 a0007c0010t0001g0018 a0007c0010t0001g0019 a0007c0010t0001g0020 a0007c0021t0001g0021 a0008c0009t0001g0138 a0008c0009t0001g0139 a0008c0009t0001g0141 a0008c0009t0001g0156 a0008c0009t0001g0157 a0008c0009t0001g0189 a0009c0012t0001g0315 a0009c0012t0001g0319 a0009c0012t0001g0320 a0009c0012t0001g0321 a0009c0012t0001g0322 a0010c0011t0001g0311 a0010c0011t0001g0317 a0010c0011t0001g0323 a0010c0011t0001g0325 a0010c0011t0002g0318 a0011c0013t0001g0313 a0011c0013t0001g0314 a0011c0013t0001g0316 a0011c0013t0002g0312 a0012c0014t0001g0023 a0012c0014t0001g0024 a0013c0016t0001g0026 a0013c0016t0001g0028 a0014c0015t0001g0033 a0014c0015t0001g0058 a0015c0017t0001g0147 a0015c0017t0001g0176 a0016c0018t0001g0310 a0016c0018t0001g0324 a0017c0038t0002g0309 a0018c0022t0001g0022 a0019c0023t0001g0025 a0020c0024t0001g0126 a0022c0027t0001g0136 a0023c0025t0001g0108 a0024c0034t0002g0294 a0025c0030t0001g0191 a0026c0033t0001g0203 a0027c0031t0002g0173 a0028c0032t0001g0305 a0029c0036t0001g0306 a0030c0035t0001g0307 a0031c0037t0001g0308 a0032c0020t0001g0015 a0033c0019t0001g0014 a0034c0040t0001g0332 a0035c0039t0001g0329	339	348	0.9741	0	c.150 others(6): Show c.1500-5A>C		ERICH6	ENSG00000163645.15	transcript	ENST00000295910.11	protein_coding	12/13					chr3	TogoVar
ERICH6_chr3_150654885_150708920	150685962	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(151): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01496.hp1 HG01515.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp2 HG02015.hp1 HG02040.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02717.hp1 HG02723.hp2 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03654.hp2 HG03831.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18952.hp2 NA18957.hp2 NA18962.hp1 NA18965.hp2 NA18969.hp1 NA18970.hp2 NA18978.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18987.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18994.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19004.hp1 NA19009.hp1 NA19010.hp2 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19075.hp1 NA19078.hp1 NA19078.hp2 NA19085.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0010 a0012 a0019 a0020 a0022 a0024 a0025 a0028 a0032 a0033	a0001c0002 a0001c0003 a0002c0001 others(18): Show a0001c0002 a0001c0003 a0002c0001 a0002c0028 a0002c0029 a0003c0004 a0003c0006 a0004c0005 a0005c0007 a0006c0008 a0007c0021 a0010c0011 a0012c0014 a0019c0023 a0020c0024 a0022c0027 a0024c0034 a0025c0030 a0028c0032 a0032c0020 a0033c0019	a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 others(23): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0002c0001t0001 a0002c0028t0001 a0002c0029t0001 a0003c0004t0001 a0003c0004t0002 a0003c0006t0001 a0003c0006t0002 a0004c0005t0001 a0004c0005t0002 a0005c0007t0001 a0006c0008t0001 a0007c0021t0001 a0010c0011t0001 a0010c0011t0002 a0012c0014t0001 a0019c0023t0001 a0020c0024t0001 a0022c0027t0001 a0024c0034t0002 a0025c0030t0001 a0028c0032t0001 a0032c0020t0001 a0033c0019t0001	a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0205 others(144): Show a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0205 a0001c0002t0001g0207 a0001c0002t0001g0209 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0221 a0001c0002t0001g0228 a0001c0002t0001g0231 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0246 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0283 a0001c0002t0001g0285 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0304 a0001c0002t0002g0247 a0001c0002t0002g0282 a0001c0003t0001g0007 a0001c0003t0001g0140 a0001c0003t0001g0144 a0001c0003t0001g0153 a0001c0003t0001g0154 a0001c0003t0001g0155 a0001c0003t0001g0190 a0001c0003t0001g0193 a0001c0003t0001g0194 a0001c0003t0001g0196 a0001c0003t0001g0197 a0001c0003t0001g0198 a0001c0003t0001g0199 a0002c0001t0001g0004 a0002c0001t0001g0029 a0002c0001t0001g0043 a0002c0001t0001g0050 a0002c0001t0001g0051 a0002c0001t0001g0053 a0002c0001t0001g0064 a0002c0001t0001g0071 a0002c0001t0001g0072 a0002c0001t0001g0073 a0002c0001t0001g0074 a0002c0001t0001g0075 a0002c0001t0001g0076 a0002c0001t0001g0077 a0002c0001t0001g0078 a0002c0001t0001g0079 a0002c0001t0001g0116 a0002c0001t0001g0117 a0002c0001t0001g0118 a0002c0001t0001g0122 a0002c0001t0001g0123 a0002c0001t0001g0124 a0002c0001t0001g0125 a0002c0001t0001g0128 a0002c0001t0001g0130 a0002c0001t0001g0132 a0002c0001t0001g0134 a0002c0028t0001g0135 a0002c0029t0001g0137 a0003c0004t0001g0148 a0003c0004t0001g0178 a0003c0004t0001g0200 a0003c0004t0001g0201 a0003c0004t0002g0182 a0003c0004t0002g0192 a0003c0004t0002g0195 a0003c0006t0001g0009 a0003c0006t0001g0210 a0003c0006t0001g0211 a0003c0006t0001g0216 a0003c0006t0001g0229 a0003c0006t0001g0230 a0003c0006t0001g0232 a0003c0006t0001g0233 a0003c0006t0001g0278 a0003c0006t0001g0284 a0003c0006t0001g0288 a0003c0006t0002g0259 a0004c0005t0001g0027 a0004c0005t0001g0052 a0004c0005t0001g0127 a0004c0005t0001g0131 a0004c0005t0002g0006 a0004c0005t0002g0129 a0005c0007t0001g0013 a0005c0007t0001g0245 a0005c0007t0001g0254 a0005c0007t0001g0295 a0005c0007t0001g0296 a0005c0007t0001g0303 a0006c0008t0001g0328 a0007c0021t0001g0021 a0010c0011t0001g0317 a0010c0011t0002g0318 a0012c0014t0001g0023 a0012c0014t0001g0024 a0019c0023t0001g0025 a0020c0024t0001g0126 a0022c0027t0001g0136 a0024c0034t0002g0294 a0025c0030t0001g0191 a0028c0032t0001g0305 a0032c0020t0001g0015 a0033c0019t0001g0014	154	348	0.4425	0	c.666 others(5): Show c.666+4A>G		ERICH6	ENSG00000163645.15	transcript	ENST00000295910.11	protein_coding	5/13					chr3	TogoVar
ERLEC1_chr2_53782044_53823796	53812946	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18987.hp1 NA19078.hp2 NA18987.hp1 NA19078.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0224 a0002c0003t0002g0225 a0002c0003t0002g0224 a0002c0003t0002g0225	2	374	0.0054	0	c.110 others(6): Show c.1102-3T>C		ERLEC1	ENSG00000068912.15	transcript	ENST00000185150.9	protein_coding	10/13					chr2	TogoVar
ERMAP_chr1_42812122_42849991	42825745	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0124 a0001c0001t0002g0124	1	386	0.0026	0	c.-6+ others(4): Show c.-6+7C>T		ERMAP	ENSG00000164010.15	transcript	ENST00000372517.8	protein_coding	2/11					chr1	TogoVar
ERMARD_chr6_169746622_169786600	169751662	A A	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02895.hp2 HG03225.hp2 HG03471.hp2 others(1): Show HG02895.hp2 HG03225.hp2 HG03471.hp2 NA18906.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0006 a0004c0008t0001g0112 a0004c0008t0001g0006 a0004c0008t0001g0112	4	379	0.0106	0	c.5A> others(1): Show c.5A>T	p.Glu others(4): Show p.Glu2Val	ERMARD	ENSG00000130023.16	transcript	ENST00000366773.8	protein_coding	1/18	41/2160	5/2037	2/678		chr6	TogoVar
ERMARD_chr6_169746622_169786600	169751670	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00408.hp2 HG00438.hp1 others(116): Show HG00099.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01257.hp2 HG01433.hp2 HG01891.hp1 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp2 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02293.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp1 HG03579.hp1 HG03834.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18953.hp1 NA18953.hp2 NA18955.hp2 NA18957.hp1 NA18959.hp2 NA18961.hp2 NA18965.hp2 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18978.hp2 NA18979.hp2 NA18987.hp1 NA18990.hp2 NA18993.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19001.hp2 NA19003.hp2 NA19005.hp2 NA19056.hp2 NA19058.hp2 NA19060.hp2 NA19063.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19076.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19080.hp2 NA19085.hp1 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0006 others(2): Show a0002 a0003 a0006 a0008 a0010	a0002c0002 a0002c0003 a0002c0006 others(6): Show a0002c0002 a0002c0003 a0002c0006 a0003c0004 a0003c0012 a0003c0020 a0006c0010 a0008c0021 a0010c0022	a0002c0002t0001 a0002c0003t0001 a0002c0006t0001 others(6): Show a0002c0002t0001 a0002c0003t0001 a0002c0006t0001 a0003c0004t0001 a0003c0012t0001 a0003c0020t0001 a0006c0010t0001 a0008c0021t0001 a0010c0022t0001	a0002c0002t0001g0001 a0002c0002t0001g0026 a0002c0002t0001g0046 others(52): Show a0002c0002t0001g0001 a0002c0002t0001g0026 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0153 a0002c0002t0001g0172 a0002c0003t0001g0010 a0002c0003t0001g0045 a0002c0003t0001g0132 a0002c0003t0001g0133 a0002c0003t0001g0134 a0002c0003t0001g0135 a0002c0003t0001g0151 a0002c0006t0001g0051 a0002c0006t0001g0163 a0002c0006t0001g0164 a0002c0006t0001g0165 a0002c0006t0001g0166 a0003c0004t0001g0004 a0003c0004t0001g0008 a0003c0004t0001g0020 a0003c0004t0001g0049 a0003c0004t0001g0050 a0003c0004t0001g0155 a0003c0004t0001g0157 a0003c0004t0001g0158 a0003c0004t0001g0159 a0003c0004t0001g0160 a0003c0004t0001g0161 a0003c0004t0001g0162 a0003c0004t0001g0167 a0003c0004t0001g0168 a0003c0004t0001g0171 a0003c0012t0001g0169 a0003c0012t0001g0170 a0003c0020t0001g0154 a0006c0010t0001g0008 a0008c0021t0001g0152 a0010c0022t0001g0156	119	379	0.3140	0	c.6+7 others(3): Show c.6+7C>T		ERMARD	ENSG00000130023.16	transcript	ENST00000366773.8	protein_coding	1/17					chr6	TogoVar
ERMARD_chr6_169746622_169786600	169753866	A A	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02109.hp2 HG02258.hp2 HG02486.hp1 others(5): Show HG02109.hp2 HG02258.hp2 HG02486.hp1 HG02818.hp2 HG02965.hp1 HG02970.hp2 HG03579.hp2 NA19030.hp2	a0001 a0005 a0001 a0005	a0001c0007 a0005c0011 a0001c0007 a0005c0011	a0001c0007t0001 a0005c0011t0001 a0001c0007t0001 a0005c0011t0001	a0001c0007t0001g0016 a0001c0007t0001g0056 a0005c0011t0001g0053 others(2): Show a0001c0007t0001g0016 a0001c0007t0001g0056 a0005c0011t0001g0053 a0005c0011t0001g0054 a0005c0011t0001g0055	8	379	0.0211	0	c.9A> others(1): Show c.9A>C	p.Val others(4): Show p.Val3Val	ERMARD	ENSG00000130023.16	transcript	ENST00000366773.8	protein_coding	2/18	45/2160	9/2037	3/678		chr6	TogoVar
ERMARD_chr6_169746622_169786600	169762531	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02630.hp2 HG02723.hp1 HG02809.hp1 HG02630.hp2 HG02723.hp1 HG02809.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0044 a0001c0009t0001g0126 a0001c0009t0001g0044 a0001c0009t0001g0126	3	379	0.0079	0	c.960 others(3): Show c.960G>A	p.Glu others(6): Show p.Glu320Glu	ERMARD	ENSG00000130023.16	transcript	ENST00000366773.8	protein_coding	9/18	996/2160	960/2037	320/678		chr6	TogoVar
ERMN_chr2_157313631_157330824	157318633	G G	A A	splice_region_variant splice_region_variant	LOW	HG02258.hp1 HG03130.hp2 HG03486.hp2 HG02258.hp1 HG03130.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0018 a0001c0001t0007g0018	3	368	0.0082	0	c.26 others(5): Show c.2638C>T		ERMN	ENSG00000136541.15	transcript	ENST00000410096.6	protein_coding	3/3					chr2	TogoVar
ERMP1_chr9_5779572_5838117	5805603	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0025 a0001c0009t0025	a0001c0009t0025g0089 a0001c0009t0025g0089	1	378	0.0027	0	c.172 others(6): Show c.1723+8A>G		ERMP1	ENSG00000099219.15	transcript	ENST00000339450.10	protein_coding	9/14					chr9	TogoVar
ERN1_chr17_64034142_64135144	64053370	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01346.hp2 HG01346.hp2	a0011 a0011	a0011c0023 a0011c0023	a0011c0023t0016 a0011c0023t0016	a0011c0023t0016g0051 a0011c0023t0016g0051	1	234	0.0043	0	c.195 others(4): Show c.1955A>G	p.Tyr others(6): Show p.Tyr652Cys	ERN1	ENSG00000178607.17	transcript	ENST00000433197.4	protein_coding	16/22	2070/7895	1955/2934	652/977		chr17	TogoVar
ERN1_chr17_64034142_64135144	64075251	T T	TA TA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01346.hp1 HG01516.hp1 HG01884.hp2 others(11): Show HG01346.hp1 HG01516.hp1 HG01884.hp2 HG02145.hp1 HG02257.hp2 HG02486.hp2 HG02622.hp2 HG02809.hp1 HG02886.hp2 HG03471.hp2 HG03710.hp1 NA18906.hp1 NA18954.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0001c0022	a0001c0001t0002 a0001c0001t0009 a0001c0001t0017 others(5): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0017 a0001c0002t0006 a0001c0002t0011 a0001c0002t0012 a0001c0009t0002 a0001c0022t0033	a0001c0001t0002g0056 a0001c0001t0009g0127 a0001c0001t0009g0128 others(11): Show a0001c0001t0002g0056 a0001c0001t0009g0127 a0001c0001t0009g0128 a0001c0001t0009g0129 a0001c0001t0009g0130 a0001c0001t0009g0133 a0001c0001t0017g0067 a0001c0002t0006g0132 a0001c0002t0011g0136 a0001c0002t0011g0137 a0001c0002t0011g0138 a0001c0002t0012g0135 a0001c0009t0002g0062 a0001c0022t0033g0155	14	234	0.0598	1	c.283 others(6): Show c.283-5dupT		ERN1	ENSG00000178607.17	transcript	ENST00000433197.4	protein_coding	4/21					chr17	TogoVar
ERN1_chr17_64034142_64135144	64075251	T T	TAA TAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00408.hp1 HG00408.hp2 others(86): Show HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00558.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp2 HG01928.hp1 HG01928.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02109.hp2 HG02135.hp2 HG02155.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02630.hp2 HG02738.hp2 HG02895.hp1 HG03492.hp2 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp2 HG04199.hp2 HG06807.hp2 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18954.hp2 NA18957.hp1 NA18965.hp2 NA18967.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18977.hp1 NA18978.hp1 NA18982.hp1 NA18986.hp1 NA18999.hp1 NA18999.hp2 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19065.hp2 NA19066.hp2 NA19084.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0009 a0010 a0011	a0001c0001 a0001c0002 a0001c0009 others(6): Show a0001c0001 a0001c0002 a0001c0009 a0002c0008 a0002c0017 a0003c0020 a0009c0015 a0010c0016 a0011c0023	a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 others(18): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0002t0001 a0001c0009t0002 a0002c0008t0003 a0002c0008t0034 a0002c0017t0003 a0003c0020t0003 a0009c0015t0002 a0010c0016t0002 a0011c0023t0016	a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(86): Show a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0021 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0033 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0050 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0100 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0117 a0001c0001t0002g0125 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0193 a0001c0001t0002g0212 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0080 a0001c0001t0003g0105 a0001c0001t0003g0112 a0001c0001t0003g0115 a0001c0001t0003g0162 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0210 a0001c0001t0016g0077 a0001c0001t0017g0087 a0001c0001t0020g0010 a0001c0001t0026g0114 a0001c0001t0027g0071 a0001c0001t0028g0161 a0001c0001t0029g0055 a0001c0001t0030g0182 a0001c0001t0031g0006 a0001c0001t0032g0098 a0001c0002t0001g0065 a0001c0002t0001g0195 a0001c0009t0002g0041 a0001c0009t0002g0063 a0002c0008t0003g0096 a0002c0008t0003g0196 a0002c0008t0034g0188 a0002c0017t0003g0194 a0003c0020t0003g0022 a0009c0015t0002g0058 a0010c0016t0002g0008 a0011c0023t0016g0051	89	234	0.3803	2	c.283 others(13): Show c.283-6_283-5dupTT		ERN1	ENSG00000178607.17	transcript	ENST00000433197.4	protein_coding	4/21					chr17	TogoVar
ERN2_chr16_23685310_23718222	23691298	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03239.hp2 HG03834.hp2 HG03239.hp2 HG03834.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0135 a0002c0002t0002g0136 a0002c0002t0002g0135 a0002c0002t0002g0136	2	412	0.0049	0	c.250 others(6): Show c.2500+4G>C		ERN2	ENSG00000134398.15	transcript	ENST00000256797.9	protein_coding	20/21					chr16	TogoVar
ERN2_chr16_23685310_23718222	23710249	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0207 a0002c0002t0002g0207	1	412	0.0024	0	c.234 others(5): Show c.234-5C>T		ERN2	ENSG00000134398.15	transcript	ENST00000256797.9	protein_coding	3/21					chr16	TogoVar
ERO1A_chr14_52634915_52700558	52658016	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0027 a0001c0005t0027	a0001c0005t0027g0209 a0001c0005t0027g0209	1	398	0.0025	0	c.716 others(5): Show c.716-7T>G		ERO1A	ENSG00000197930.13	transcript	ENST00000395686.8	protein_coding	10/15					chr14	TogoVar
ERO1A_chr14_52634915_52700558	52658149	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0027 a0001c0005t0027	a0001c0005t0027g0209 a0001c0005t0027g0209	1	398	0.0025	0	c.690 others(3): Show c.690G>A	p.Glu others(6): Show p.Glu230Glu	ERO1A	ENSG00000197930.13	transcript	ENST00000395686.8	protein_coding	10/16	767/5139	690/1407	230/468		chr14	TogoVar
ERO1A_chr14_52634915_52700558	52671708	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0027 a0001c0005t0027	a0001c0005t0027g0209 a0001c0005t0027g0209	1	398	0.0025	0	c.435 others(5): Show c.435-5T>C		ERO1A	ENSG00000197930.13	transcript	ENST00000395686.8	protein_coding	5/15					chr14	TogoVar
ERO1B_chr1_236210101_236286958	236230221	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0104 a0001c0001t0005g0104	1	396	0.0025	0	c.712 others(5): Show c.712+3A>G		ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	10/15					chr1	TogoVar
ERO1B_chr1_236210101_236286958	236235781	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0332 a0001c0001t0003g0332	1	396	0.0025	0	c.673 others(5): Show c.673+8T>G		ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	8/15					chr1	TogoVar
ERO1B_chr1_236210101_236286958	236235782	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0332 a0001c0001t0003g0332	1	396	0.0025	0	c.673 others(5): Show c.673+7T>C		ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	8/15					chr1	TogoVar
ERO1B_chr1_236210101_236286958	236235783	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0332 a0001c0001t0003g0332	1	396	0.0025	0	c.673 others(5): Show c.673+6T>A		ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	8/15					chr1	TogoVar
ERO1B_chr1_236210101_236286958	236235784	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0332 a0001c0001t0003g0332	1	396	0.0025	0	c.673 others(5): Show c.673+5G>C		ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	8/15					chr1	TogoVar
ERO1B_chr1_236210101_236286958	236235785	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0332 a0001c0001t0003g0332	1	396	0.0025	0	c.673 others(5): Show c.673+4G>A		ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	8/15					chr1	TogoVar
ERO1B_chr1_236210101_236286958	236243499	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0259 a0001c0001t0007g0259	1	396	0.0025	0	c.432 others(5): Show c.432-4A>G		ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	5/15					chr1	TogoVar
ERO1B_chr1_236210101_236286958	236252047	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(113): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp2 HG01243.hp2 HG01255.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01884.hp1 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01993.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02523.hp1 HG02559.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03831.hp1 HG04184.hp1 HG04204.hp2 HG04228.hp1 NA18747.hp1 NA18939.hp1 NA18943.hp1 NA18945.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp2 NA18957.hp1 NA18959.hp2 NA18963.hp1 NA18967.hp1 NA18968.hp1 NA18970.hp2 NA18971.hp1 NA18975.hp1 NA18979.hp1 NA18980.hp1 NA18986.hp2 NA18988.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19005.hp2 NA19006.hp1 NA19009.hp1 NA19009.hp2 NA19043.hp1 NA19057.hp1 NA19066.hp1 NA19070.hp1 NA19075.hp1 NA19075.hp2 NA19079.hp2 NA19082.hp1 NA19083.hp2 NA19087.hp2 NA19088.hp1 NA20300.hp1 NA20300.hp2 NA21309.hp1	a0001 a0003 a0006 others(2): Show a0001 a0003 a0006 a0007 a0008	a0001c0001 a0003c0004 a0006c0010 others(2): Show a0001c0001 a0003c0004 a0006c0010 a0007c0011 a0008c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0036 a0001c0001t0048 a0001c0001t0055 a0001c0001t0056 a0001c0001t0058 a0001c0001t0059 a0003c0004t0013 a0003c0004t0025 a0003c0004t0029 a0003c0004t0042 a0003c0004t0043 a0006c0010t0001 a0007c0011t0071 a0008c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0013 others(111): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0100 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0001g0262 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0002g0011 a0001c0001t0002g0014 a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0038 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0064 a0001c0001t0002g0070 a0001c0001t0002g0091 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0129 a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0002g0136 a0001c0001t0002g0181 a0001c0001t0002g0312 a0001c0001t0002g0329 a0001c0001t0003g0021 a0001c0001t0005g0089 a0001c0001t0007g0078 a0001c0001t0007g0079 a0001c0001t0008g0009 a0001c0001t0008g0037 a0001c0001t0009g0010 a0001c0001t0009g0012 a0001c0001t0017g0082 a0001c0001t0017g0085 a0001c0001t0017g0086 a0001c0001t0019g0369 a0001c0001t0020g0042 a0001c0001t0020g0092 a0001c0001t0021g0019 a0001c0001t0022g0024 a0001c0001t0022g0052 a0001c0001t0022g0053 a0001c0001t0031g0134 a0001c0001t0031g0135 a0001c0001t0032g0130 a0001c0001t0032g0138 a0001c0001t0034g0023 a0001c0001t0036g0034 a0001c0001t0036g0057 a0001c0001t0048g0120 a0001c0001t0055g0008 a0001c0001t0056g0074 a0001c0001t0058g0097 a0001c0001t0059g0098 a0003c0004t0013g0118 a0003c0004t0013g0125 a0003c0004t0013g0127 a0003c0004t0013g0198 a0003c0004t0025g0015 a0003c0004t0025g0017 a0003c0004t0025g0018 a0003c0004t0029g0002 a0003c0004t0042g0126 a0003c0004t0043g0128 a0006c0010t0001g0226 a0007c0011t0071g0016 a0008c0012t0001g0093	116	396	0.2929	0	c.348 others(5): Show c.348+3A>G		ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	4/15					chr1	TogoVar
ERO1B_chr1_236210101_236286958	236253415	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0062 a0002c0002t0062	a0002c0002t0062g0374 a0002c0002t0062g0374	1	396	0.0025	0	c.306 others(5): Show c.306+7T>C		ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	3/15					chr1	TogoVar
ERP27_chr12_14909039_14943537	14915483	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0239 a0001c0001t0003g0239	1	402	0.0025	0	c.774 others(5): Show c.774+6T>C		ERP27	ENSG00000139055.7	transcript	ENST00000266397.7	protein_coding	6/6					chr12	TogoVar
ERVMER34-1_chr4_52737553_52756425	52751074	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00423.hp1 HG00438.hp2 HG00597.hp2 others(37): Show HG00423.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp2 HG01433.hp1 HG01978.hp1 HG01993.hp2 HG02027.hp2 HG02056.hp2 HG02132.hp1 HG02135.hp2 HG02165.hp2 NA18747.hp1 NA18939.hp1 NA18942.hp1 NA18943.hp1 NA18945.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18957.hp2 NA18959.hp1 NA18970.hp2 NA18975.hp2 NA18979.hp2 NA18982.hp2 NA18988.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19011.hp2 NA19012.hp2 NA19055.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19067.hp1 NA19077.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0003 a0001c0001t0001g0019 a0001c0001t0016g0064 a0001c0001t0001g0003 a0001c0001t0001g0019 a0001c0001t0016g0064	40	392	0.1020	0	c.-56 others(6): Show c.-563-5C>G		ERVMER34-1	ENSG00000226887.8	transcript	ENST00000443173.6	protein_coding	1/2					chr4	TogoVar
ESAM_chr11_124748126_124767290	124754339	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0077 a0001c0009t0001g0077	1	430	0.0023	0	c.732 others(3): Show c.732G>A	p.Gly others(6): Show p.Gly244Gly	ESAM	ENSG00000149564.12	transcript	ENST00000278927.10	protein_coding	6/7	868/1829	732/1173	244/390		chr11	TogoVar
ESCO1_chr18_21524284_21605704	21532666	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0191 a0001c0001t0008g0191	1	310	0.0032	0	c.218 others(6): Show c.2188-6C>G		ESCO1	ENSG00000141446.11	transcript	ENST00000269214.10	protein_coding	10/11					chr18	TogoVar
ESCO1_chr18_21524284_21605704	21540013	G G	GAT GAT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02109.hp2 HG02809.hp1 HG02896.hp1 others(2): Show HG02109.hp2 HG02809.hp1 HG02896.hp1 HG02897.hp2 HG06807.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0002 a0003c0005 a0001c0003 a0002c0002 a0003c0005	a0001c0003t0002 a0002c0002t0001 a0003c0005t0002 a0001c0003t0002 a0002c0002t0001 a0003c0005t0002	a0001c0003t0002g0164 a0002c0002t0001g0193 a0003c0005t0002g0165 others(2): Show a0001c0003t0002g0164 a0002c0002t0001g0193 a0003c0005t0002g0165 a0003c0005t0002g0166 a0003c0005t0002g0167	5	310	0.0161	2	c.195 others(15): Show c.1954-6_1954-5dupAT		ESCO1	ENSG00000141446.11	transcript	ENST00000269214.10	protein_coding	8/11					chr18	TogoVar

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