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
EML6_chr2_54718662_54977025	54879541	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0122 a0001c0003t0009g0122	1	264	0.0038	0	c.234 others(6): Show c.2345-6A>C		EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	16/41					chr2	TogoVar
EML6_chr2_54718662_54977025	54895406	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0258 a0001c0001t0056g0258	1	264	0.0038	0	c.298 others(6): Show c.2982+6G>A		EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	21/41					chr2	TogoVar
EML6_chr2_54718662_54977025	54903201	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0017 a0001c0005t0017	a0001c0005t0017g0084 a0001c0005t0017g0084	1	264	0.0038	0	c.327 others(6): Show c.3277+5A>G		EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	23/41					chr2	TogoVar
EML6_chr2_54718662_54977025	54928315	A A	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0038 a0001c0030t0038	a0001c0030t0038g0074 a0001c0030t0038g0074	1	264	0.0038	0	c.367 others(4): Show c.3678A>T	p.Gly others(7): Show p.Gly1226Gly	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	27/42	4307/8436	3678/5877	1226/1958		chr2	TogoVar
EMP2_chr16_10523422_10585598	10543565	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0386 a0001c0001t0020g0386	1	402	0.0025	0	c.169 others(5): Show c.169+5G>A		EMP2	ENSG00000213853.10	transcript	ENST00000359543.8	protein_coding	3/4					chr16	TogoVar
EMP2_chr16_10523422_10585598	10547684	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0023 a0001c0001t0010g0023	1	402	0.0025	0	c.-60 others(5): Show c.-60-7T>A		EMP2	ENSG00000213853.10	transcript	ENST00000359543.8	protein_coding	1/4					chr16	TogoVar
EMSY_chr11_76440018_76558031	76451851	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03239.hp1 NA20905.hp2 HG03239.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0081 a0001c0001t0003g0090 a0001c0001t0003g0081 a0001c0001t0003g0090	2	360	0.0056	0	c.71- others(4): Show c.71-7C>T		EMSY	ENSG00000158636.17	transcript	ENST00000695367.1	protein_coding	2/21					chr11	TogoVar
EMSY_chr11_76440018_76558031	76451964	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03453.hp2 NA19240.hp2 HG03453.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0287 a0001c0001t0014g0288 a0001c0001t0014g0287 a0001c0001t0014g0288	2	360	0.0056	0	c.170 others(5): Show c.170+7T>C		EMSY	ENSG00000158636.17	transcript	ENST00000695367.1	protein_coding	3/21					chr11	TogoVar
EMSY_chr11_76440018_76558031	76516138	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(239): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18979.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0004 a0002c0005 others(1): Show a0001c0001 a0001c0004 a0002c0005 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0027 a0001c0004t0003 a0001c0004t0017 a0002c0005t0003 a0004c0007t0002	a0001c0001t0001g0003 a0001c0001t0001g0291 a0001c0001t0001g0292 others(237): Show a0001c0001t0001g0003 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0085 a0001c0001t0002g0089 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0125 a0001c0001t0002g0127 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0189 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0205 a0001c0001t0002g0210 a0001c0001t0002g0214 a0001c0001t0002g0234 a0001c0001t0002g0239 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0319 a0001c0001t0002g0357 a0001c0001t0003g0081 a0001c0001t0003g0083 a0001c0001t0003g0088 a0001c0001t0003g0090 a0001c0001t0003g0112 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0215 a0001c0001t0003g0217 a0001c0001t0003g0219 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0241 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0321 a0001c0001t0004g0095 a0001c0001t0004g0096 a0001c0001t0004g0097 a0001c0001t0004g0098 a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0004g0101 a0001c0001t0004g0102 a0001c0001t0004g0103 a0001c0001t0004g0289 a0001c0001t0005g0086 a0001c0001t0005g0110 a0001c0001t0005g0111 a0001c0001t0005g0213 a0001c0001t0005g0220 a0001c0001t0006g0009 a0001c0001t0006g0010 a0001c0001t0006g0011 a0001c0001t0006g0012 a0001c0001t0006g0013 a0001c0001t0007g0124 a0001c0001t0007g0126 a0001c0001t0007g0128 a0001c0001t0007g0129 a0001c0001t0007g0130 a0001c0001t0008g0188 a0001c0001t0008g0190 a0001c0001t0008g0233 a0001c0001t0009g0002 a0001c0001t0009g0277 a0001c0001t0011g0082 a0001c0001t0011g0087 a0001c0001t0011g0094 a0001c0001t0012g0216 a0001c0001t0012g0218 a0001c0001t0013g0118 a0001c0001t0013g0320 a0001c0001t0015g0246 a0001c0001t0016g0091 a0001c0001t0018g0084 a0001c0001t0019g0306 a0001c0001t0020g0240 a0001c0001t0027g0309 a0001c0004t0003g0001 a0001c0004t0003g0187 a0001c0004t0003g0199 a0001c0004t0017g0001 a0002c0005t0003g0197 a0002c0005t0003g0198 a0002c0005t0003g0202 a0004c0007t0002g0121	242	360	0.6722	0	c.155 others(6): Show c.1559-4G>A		EMSY	ENSG00000158636.17	transcript	ENST00000695367.1	protein_coding	11/21					chr11	TogoVar
EMSY_chr11_76440018_76558031	76526643	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0269 a0001c0001t0002g0269	1	360	0.0028	0	c.204 others(6): Show c.2040+8A>G		EMSY	ENSG00000158636.17	transcript	ENST00000695367.1	protein_coding	14/21					chr11	TogoVar
EMSY_chr11_76440018_76558031	76537957	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0276 a0001c0001t0002g0276	1	360	0.0028	0	c.256 others(6): Show c.2560+7G>A		EMSY	ENSG00000158636.17	transcript	ENST00000695367.1	protein_coding	17/21					chr11	TogoVar
EMSY_chr11_76440018_76558031	76553029	G G	A A	splice_region_variant splice_region_variant	LOW	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0064 a0001c0002t0024g0064	1	360	0.0028	0	c.28 others(5): Show c.2883G>A		EMSY	ENSG00000158636.17	transcript	ENST00000695367.1	protein_coding	22/22					chr11	TogoVar
EN1_chr2_118837171_118852648	118843258	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	442	0.0023	0	c.863 others(5): Show c.863-4G>T		EN1	ENSG00000163064.7	transcript	ENST00000295206.7	protein_coding	1/1					chr2	TogoVar
ENAH_chr1_225481829_225658123	225514908	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp2 HG01071.hp2 HG01175.hp1 others(25): Show HG00323.hp2 HG01071.hp2 HG01175.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01975.hp1 HG02040.hp2 HG02083.hp1 HG02300.hp1 HG02615.hp1 NA18612.hp2 NA18942.hp1 NA18946.hp1 NA18947.hp1 NA18950.hp1 NA18974.hp2 NA18980.hp2 NA18990.hp2 NA18992.hp2 NA19003.hp2 NA19007.hp1 NA19009.hp2 NA19055.hp1 NA19060.hp2 NA19066.hp2 NA19076.hp1 NA19091.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0012 a0001c0001 a0005c0012	a0001c0001t0009 a0001c0001t0013 a0001c0001t0023 others(11): Show a0001c0001t0009 a0001c0001t0013 a0001c0001t0023 a0001c0001t0025 a0001c0001t0035 a0001c0001t0041 a0001c0001t0047 a0001c0001t0057 a0001c0001t0073 a0001c0001t0074 a0001c0001t0100 a0001c0001t0112 a0001c0001t0113 a0005c0012t0013	a0001c0001t0009g0009 a0001c0001t0009g0032 a0001c0001t0009g0039 others(25): Show a0001c0001t0009g0009 a0001c0001t0009g0032 a0001c0001t0009g0039 a0001c0001t0009g0040 a0001c0001t0009g0244 a0001c0001t0009g0261 a0001c0001t0013g0033 a0001c0001t0013g0038 a0001c0001t0013g0042 a0001c0001t0013g0056 a0001c0001t0023g0047 a0001c0001t0023g0142 a0001c0001t0023g0290 a0001c0001t0025g0035 a0001c0001t0025g0041 a0001c0001t0025g0043 a0001c0001t0035g0036 a0001c0001t0035g0037 a0001c0001t0041g0021 a0001c0001t0041g0166 a0001c0001t0047g0263 a0001c0001t0057g0044 a0001c0001t0073g0045 a0001c0001t0074g0057 a0001c0001t0100g0046 a0001c0001t0112g0304 a0001c0001t0113g0305 a0005c0012t0013g0034	28	308	0.0909	0	c.914 others(5): Show c.914-8T>C		ENAH	ENSG00000154380.19	transcript	ENST00000366843.7	protein_coding	6/13					chr1	TogoVar
ENAH_chr1_225481829_225658123	225519569	G G	GA GA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01361.hp1 HG02886.hp2 HG03017.hp2 others(13): Show HG01361.hp1 HG02886.hp2 HG03017.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp2 HG04204.hp2 NA18943.hp2 NA18955.hp1 NA18959.hp2 NA18973.hp2 NA18980.hp2 NA18983.hp1 NA19011.hp2 NA19056.hp2 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0008 others(1): Show a0001c0001 a0001c0003 a0001c0008 a0002c0006	a0001c0001t0013 a0001c0001t0079 a0001c0003t0014 others(7): Show a0001c0001t0013 a0001c0001t0079 a0001c0003t0014 a0001c0003t0029 a0001c0003t0107 a0001c0003t0110 a0001c0003t0111 a0001c0008t0014 a0002c0006t0108 a0002c0006t0109	a0001c0001t0013g0033 a0001c0001t0013g0038 a0001c0001t0079g0013 others(13): Show a0001c0001t0013g0033 a0001c0001t0013g0038 a0001c0001t0079g0013 a0001c0003t0014g0022 a0001c0003t0014g0025 a0001c0003t0014g0049 a0001c0003t0014g0050 a0001c0003t0029g0051 a0001c0003t0029g0052 a0001c0003t0029g0054 a0001c0003t0107g0023 a0001c0003t0110g0058 a0001c0003t0111g0053 a0001c0008t0014g0048 a0002c0006t0108g0020 a0002c0006t0109g0024	16	308	0.0520	1	c.435 others(6): Show c.435-5dupT		ENAH	ENSG00000154380.19	transcript	ENST00000366843.7	protein_coding	4/13					chr1	TogoVar
ENAH_chr1_225481829_225658123	225519569	GA GA	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp1 HG01243.hp1 HG01243.hp2 others(7): Show HG01109.hp1 HG01243.hp1 HG01243.hp2 HG02486.hp2 HG02572.hp1 HG02622.hp2 HG03098.hp1 HG03098.hp2 HG03579.hp2 NA18522.hp1	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0001 a0001c0011 a0006c0009 others(1): Show a0001c0001 a0001c0011 a0006c0009 a0007c0010	a0001c0001t0005 a0001c0001t0048 a0001c0001t0058 others(7): Show a0001c0001t0005 a0001c0001t0048 a0001c0001t0058 a0001c0001t0076 a0001c0001t0077 a0001c0001t0089 a0001c0001t0106 a0001c0011t0105 a0006c0009t0004 a0007c0010t0087	a0001c0001t0005g0299 a0001c0001t0048g0060 a0001c0001t0058g0086 others(7): Show a0001c0001t0005g0299 a0001c0001t0048g0060 a0001c0001t0058g0086 a0001c0001t0076g0085 a0001c0001t0077g0084 a0001c0001t0089g0151 a0001c0001t0106g0150 a0001c0011t0105g0195 a0006c0009t0004g0283 a0007c0010t0087g0059	10	308	0.0325	-1	c.435 others(6): Show c.435-5delT		ENAH	ENSG00000154380.19	transcript	ENST00000366843.7	protein_coding	4/13					chr1	TogoVar
ENAM_chr4_70623744_70651824	70629437	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18972.hp1 NA19084.hp1 NA18972.hp1 NA19084.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0026 a0005c0005t0001g0026	2	410	0.0049	0	c.-60 others(5): Show c.-60-4T>A		ENAM	ENSG00000132464.13	transcript	ENST00000396073.4	protein_coding	1/8					chr4	TogoVar
ENAM_chr4_70623744_70651824	70631900	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00423.hp1 HG00558.hp1 HG00423.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	2	410	0.0049	0	c.168 others(5): Show c.168+7A>T		ENAM	ENSG00000132464.13	transcript	ENST00000396073.4	protein_coding	4/8					chr4	TogoVar
ENAM_chr4_70623744_70651824	70635892	C C	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02723.hp2 HG02723.hp2	a0010 a0010	a0010c0020 a0010c0020	a0010c0020t0003 a0010c0020t0003	a0010c0020t0003g0065 a0010c0020t0003g0065	1	410	0.0024	0	c.532 others(3): Show c.532C>G	p.Gln others(6): Show p.Gln178Glu	ENAM	ENSG00000132464.13	transcript	ENST00000396073.4	protein_coding	7/9	813/5679	532/3429	178/1142		chr4	TogoVar
ENDOU_chr12_47704734_47730490	47716887	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	422	0.0024	0	c.551 others(5): Show c.551+3G>A		ENDOU	ENSG00000111405.9	transcript	ENST00000422538.8	protein_coding	5/9					chr12	TogoVar
ENDOU_chr12_47704734_47730490	47716890	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18959.hp1 NA18959.hp1	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0002 a0010c0015t0002	a0010c0015t0002g0082 a0010c0015t0002g0082	1	422	0.0024	0	c.551 others(3): Show c.551C>T	p.Pro others(6): Show p.Pro184Leu	ENDOU	ENSG00000111405.9	transcript	ENST00000422538.8	protein_coding	5/10	628/2378	551/1233	184/410		chr12	TogoVar
ENDOV_chr17_80410167_80443086	80422201	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01243.hp1 HG03041.hp1 HG01243.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0051 a0001c0001t0004g0051	2	420	0.0048	0	c.364 others(5): Show c.364-5C>T		ENDOV	ENSG00000173818.17	transcript	ENST00000518137.6	protein_coding	3/9					chr17	TogoVar
ENGASE_chr17_79069824_79093599	79080204	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0086 a0001c0008t0001g0086	1	420	0.0024	0	c.566 others(5): Show c.566-3C>T		ENGASE	ENSG00000167280.17	transcript	ENST00000579016.6	protein_coding	4/13					chr17	TogoVar
ENGASE_chr17_79069824_79093599	79080919	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0030 a0001c0004t0030	a0001c0004t0030g0042 a0001c0004t0030g0042	2	420	0.0048	0	c.724 others(5): Show c.724-6T>C		ENGASE	ENSG00000167280.17	transcript	ENST00000579016.6	protein_coding	5/13					chr17	TogoVar
ENG_chr9_127810016_127859658	127820045	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	344	0.0029	0	c.113 others(6): Show c.1135-8C>T		ENG	ENSG00000106991.14	transcript	ENST00000373203.9	protein_coding	8/14					chr9	TogoVar
ENKUR_chr10_24976985_25021158	24984375	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02886.hp1 HG02886.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0074 a0004c0005t0001g0074	1	384	0.0026	0	c.766 others(3): Show c.766G>T	p.Ala others(6): Show p.Ala256Ser	ENKUR	ENSG00000151023.17	transcript	ENST00000331161.9	protein_coding	6/6	988/3378	766/771	256/256		chr10	TogoVar
ENKUR_chr10_24976985_25021158	24984381	A A	AG AG	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18612.hp1 NA18982.hp1 NA19055.hp1 NA18612.hp1 NA18982.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0213 a0001c0001t0002g0085 a0001c0001t0002g0088 a0001c0001t0001g0213 a0001c0001t0002g0085 a0001c0001t0002g0088	3	384	0.0078	1	c.765 others(6): Show c.765-6dupC		ENKUR	ENSG00000151023.17	transcript	ENST00000331161.9	protein_coding	5/5					chr10	TogoVar
ENKUR_chr10_24976985_25021158	24984382	G G	GA GA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp2 HG00408.hp1 HG00423.hp1 others(180): Show HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01943.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp2 HG02040.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03486.hp2 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03704.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18949.hp1 NA18951.hp1 NA18952.hp1 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp1 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18987.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp2 NA18998.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA19084.hp2 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0006	a0001c0001 a0002c0002 a0004c0005 others(2): Show a0001c0001 a0002c0002 a0004c0005 a0005c0006 a0006c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0002c0002t0002 a0002c0002t0017 a0004c0005t0001 a0005c0006t0019 a0006c0003t0003	a0001c0001t0001g0028 a0001c0001t0001g0038 a0001c0001t0001g0039 others(104): Show a0001c0001t0001g0028 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0095 a0001c0001t0001g0123 a0001c0001t0001g0164 a0001c0001t0001g0176 a0001c0001t0001g0226 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0025 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0040 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0227 a0001c0001t0002g0239 a0001c0001t0002g0243 a0001c0001t0003g0004 a0001c0001t0003g0016 a0001c0001t0003g0026 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0006g0027 a0001c0001t0006g0068 a0001c0001t0006g0069 a0001c0001t0006g0070 a0001c0001t0008g0019 a0001c0001t0009g0037 a0001c0001t0009g0120 a0001c0001t0010g0228 a0001c0001t0010g0229 a0001c0001t0010g0230 a0001c0001t0010g0231 a0001c0001t0011g0015 a0001c0001t0012g0078 a0001c0001t0012g0102 a0001c0001t0012g0242 a0001c0001t0013g0021 a0001c0001t0018g0107 a0001c0001t0020g0232 a0001c0001t0021g0258 a0002c0002t0002g0008 a0002c0002t0002g0255 a0002c0002t0002g0257 a0002c0002t0017g0256 a0004c0005t0001g0074 a0005c0006t0019g0244 a0006c0003t0003g0057	183	384	0.4766	1	c.765 others(6): Show c.765-7dupT		ENKUR	ENSG00000151023.17	transcript	ENST00000331161.9	protein_coding	5/5					chr10	TogoVar
ENKUR_chr10_24976985_25021158	24984383	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0129 a0001c0001t0007g0129	1	384	0.0026	0	c.765 others(5): Show c.765-7T>C		ENKUR	ENSG00000151023.17	transcript	ENST00000331161.9	protein_coding	5/5					chr10	TogoVar
ENO1_chr1_8856000_8883686	8862953	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18939.hp2 NA18948.hp1 NA18954.hp2 others(5): Show NA18939.hp2 NA18948.hp1 NA18954.hp2 NA18966.hp1 NA18979.hp1 NA19055.hp2 NA19057.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0046 a0001c0001t0001g0152 others(2): Show a0001c0001t0001g0028 a0001c0001t0001g0046 a0001c0001t0001g0152 a0001c0001t0001g0178 a0001c0001t0001g0212	8	414	0.0193	0	c.117 others(6): Show c.1177-8T>C		ENO1	ENSG00000074800.16	transcript	ENST00000234590.10	protein_coding	10/11					chr1	TogoVar
ENO1_chr1_8856000_8883686	8865278	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	414	0.0024	0	c.865 others(5): Show c.865+7G>C		ENO1	ENSG00000074800.16	transcript	ENST00000234590.10	protein_coding	8/11					chr1	TogoVar
ENO1_chr1_8856000_8883686	8878572	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	414	0.0024	0	c.-10 others(5): Show c.-10+8T>C		ENO1	ENSG00000074800.16	transcript	ENST00000234590.10	protein_coding	1/11					chr1	TogoVar
ENO2_chr12_6909580_6928697	6914657	G G	A A	splice_region_variant splice_region_variant	LOW	HG01069.hp1 HG01167.hp2 HG01433.hp1 others(5): Show HG01069.hp1 HG01167.hp2 HG01433.hp1 HG01943.hp2 HG01975.hp2 HG03017.hp1 HG03710.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0001 a0001c0001t0007g0036 a0001c0001t0007g0067 a0001c0001t0007g0001 a0001c0001t0007g0036 a0001c0001t0007g0067	8	376	0.0213	0	c.-15 others(3): Show c.-15G>A		ENO2	ENSG00000111674.9	transcript	ENST00000229277.6	protein_coding	1/12					chr12	TogoVar
ENO3_chr17_4946119_4962129	4951185	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(99): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00423.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01168.hp1 HG01175.hp2 HG01192.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01891.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp2 HG02040.hp1 HG02071.hp2 HG02109.hp2 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02165.hp2 HG02258.hp1 HG02293.hp1 HG02572.hp1 HG02630.hp1 HG02698.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03669.hp2 HG03688.hp2 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 NA18957.hp2 NA18964.hp2 NA18966.hp1 NA18969.hp1 NA18973.hp2 NA18978.hp1 NA18981.hp1 NA18990.hp1 NA18994.hp1 NA19062.hp2 NA19074.hp2 NA19078.hp1 NA19084.hp1 NA19087.hp2 NA19089.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20805.hp1	a0002 a0003 a0009 a0002 a0003 a0009	a0002c0002 a0002c0006 a0002c0015 others(3): Show a0002c0002 a0002c0006 a0002c0015 a0003c0003 a0003c0014 a0009c0016	a0002c0002t0001 a0002c0006t0001 a0002c0015t0001 others(3): Show a0002c0002t0001 a0002c0006t0001 a0002c0015t0001 a0003c0003t0001 a0003c0014t0001 a0009c0016t0001	a0002c0002t0001g0080 a0002c0006t0001g0021 a0002c0006t0001g0070 others(24): Show a0002c0002t0001g0080 a0002c0006t0001g0021 a0002c0006t0001g0070 a0002c0006t0001g0071 a0002c0006t0001g0074 a0002c0015t0001g0021 a0003c0003t0001g0002 a0003c0003t0001g0016 a0003c0003t0001g0022 a0003c0003t0001g0031 a0003c0003t0001g0032 a0003c0003t0001g0069 a0003c0003t0001g0072 a0003c0003t0001g0073 a0003c0003t0001g0075 a0003c0003t0001g0076 a0003c0003t0001g0077 a0003c0003t0001g0078 a0003c0003t0001g0079 a0003c0003t0001g0081 a0003c0003t0001g0082 a0003c0003t0001g0083 a0003c0003t0001g0084 a0003c0003t0001g0085 a0003c0003t0001g0086 a0003c0014t0001g0068 a0009c0016t0001g0021	102	440	0.2318	0	c.-3+ others(4): Show c.-3+3C>T		ENO3	ENSG00000108515.18	transcript	ENST00000519602.6	protein_coding	1/11					chr17	TogoVar
ENO3_chr17_4946119_4962129	4952789	TC TC	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00735.hp1 HG01167.hp2 HG01175.hp2 others(3): Show HG00735.hp1 HG01167.hp2 HG01175.hp2 HG01433.hp2 NA19087.hp2 NA19089.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0022 a0003c0003t0001g0031 a0003c0003t0001g0084 a0003c0003t0001g0022 a0003c0003t0001g0031 a0003c0003t0001g0084	6	440	0.0136	-1	c.86- others(5): Show c.86-3delC		ENO3	ENSG00000108515.18	transcript	ENST00000519602.6	protein_coding	2/11				INFO_REALIGN_3_PRIME	chr17	TogoVar
ENO3_chr17_4946119_4962129	4952790	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18985.hp2 NA18985.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0055 a0006c0010t0001g0055	1	440	0.0023	0	c.86- others(4): Show c.86-5C>T		ENO3	ENSG00000108515.18	transcript	ENST00000519602.6	protein_coding	2/11					chr17	TogoVar
ENO3_chr17_4946119_4962129	4952795	G G	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18985.hp2 NA18985.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0055 a0006c0010t0001g0055	1	440	0.0023	0	c.86G others(2): Show c.86G>C	p.Gly others(5): Show p.Gly29Ala	ENO3	ENSG00000108515.18	transcript	ENST00000519602.6	protein_coding	3/12	152/1453	86/1305	29/434		chr17	TogoVar
ENO3_chr17_4946119_4962129	4952796	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18985.hp2 NA18985.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0055 a0006c0010t0001g0055	1	440	0.0023	0	c.87C others(2): Show c.87C>T	p.Gly others(5): Show p.Gly29Gly	ENO3	ENSG00000108515.18	transcript	ENST00000519602.6	protein_coding	3/12	153/1453	87/1305	29/434		chr17	TogoVar
ENO3_chr17_4946119_4962129	4956689	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0025 a0002c0008t0001g0025	2	440	0.0046	0	c.117 others(6): Show c.1176+8T>C		ENO3	ENSG00000108515.18	transcript	ENST00000519602.6	protein_coding	10/11					chr17	TogoVar
ENO3_chr17_4946119_4962129	4956892	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02717.hp2 HG03516.hp1 HG02717.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0067 a0001c0001t0001g0059 a0001c0001t0001g0067	2	440	0.0046	0	c.123 others(6): Show c.1235+3A>G		ENO3	ENSG00000108515.18	transcript	ENST00000519602.6	protein_coding	11/11					chr17	TogoVar
ENOSF1_chr18_665318_717630	677452	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0181 a0002c0002t0004g0181	1	418	0.0024	0	c.104 others(6): Show c.1049-8C>T		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding	13/15					chr18	TogoVar
ENOSF1_chr18_665318_717630	677736	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0312 a0001c0001t0039g0312	1	418	0.0024	0	c.104 others(6): Show c.1048+7G>A		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding	13/15					chr18	TogoVar
ENOSF1_chr18_665318_717630	677737	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0023 a0001c0003t0023	a0001c0003t0023g0248 a0001c0003t0023g0248	1	418	0.0024	0	c.104 others(6): Show c.1048+6C>T		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding	13/15					chr18	TogoVar
ENOX1_chr13_43208130_43791972	43322376	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0018 a0001c0002t0016g0018	1	188	0.0053	0	c.126 others(6): Show c.1261+8C>T		ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	11/16					chr13	TogoVar
ENOX2_chrX_130617325_130908209	130656575	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	154	0.0065	0	c.112 others(6): Show c.1129+6G>A		ENOX2	ENSG00000165675.19	transcript	ENST00000394363.6	protein_coding	10/14					chrX	TogoVar
ENPEP_chr4_110471155_110570285	110509807	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02109.hp1 HG02622.hp1 HG02723.hp2 HG02109.hp1 HG02622.hp1 HG02723.hp2	a0001 a0006 a0001 a0006	a0001c0007 a0006c0021 a0001c0007 a0006c0021	a0001c0007t0001 a0001c0007t0003 a0006c0021t0001 a0001c0007t0001 a0001c0007t0003 a0006c0021t0001	a0001c0007t0001g0143 a0001c0007t0003g0022 a0006c0021t0001g0167 a0001c0007t0001g0143 a0001c0007t0003g0022 a0006c0021t0001g0167	3	312	0.0096	0	c.119 others(4): Show c.1194G>A	p.Gln others(6): Show p.Gln398Gln	ENPEP	ENSG00000138792.10	transcript	ENST00000265162.10	protein_coding	5/20	1454/6861	1194/2874	398/957		chr4	TogoVar
ENPEP_chr4_110471155_110570285	110513415	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02572.hp1 HG02572.hp1	a0015 a0015	a0015c0017 a0015c0017	a0015c0017t0002 a0015c0017t0002	a0015c0017t0002g0229 a0015c0017t0002g0229	1	312	0.0032	0	c.130 others(4): Show c.1309C>A	p.Arg others(6): Show p.Arg437Ser	ENPEP	ENSG00000138792.10	transcript	ENST00000265162.10	protein_coding	7/20	1569/6861	1309/2874	437/957		chr4	TogoVar
ENPEP_chr4_110471155_110570285	110531192	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01975.hp2 HG01975.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0279 a0003c0003t0002g0279	1	312	0.0032	0	c.172 others(6): Show c.1728-6T>A		ENPEP	ENSG00000138792.10	transcript	ENST00000265162.10	protein_coding	10/19					chr4	TogoVar
ENPP1_chr6_131803020_131900155	131869340	A A	AT AT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02109.hp1 HG02965.hp2 HG03486.hp2 others(4): Show HG02109.hp1 HG02965.hp2 HG03486.hp2 HG03540.hp2 HG03579.hp1 NA18522.hp1 NA20300.hp1	a0003 a0003	a0003c0005 a0003c0019 a0003c0005 a0003c0019	a0003c0005t0009 a0003c0019t0002 a0003c0005t0009 a0003c0019t0002	a0003c0005t0009g0276 a0003c0005t0009g0278 a0003c0005t0009g0279 others(4): Show a0003c0005t0009g0276 a0003c0005t0009g0278 a0003c0005t0009g0279 a0003c0005t0009g0280 a0003c0005t0009g0281 a0003c0005t0009g0282 a0003c0019t0002g0221	7	292	0.0240	1	c.127 others(7): Show c.1274-8dupT		ENPP1	ENSG00000197594.14	transcript	ENST00000647893.1	protein_coding	12/24				INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP2_chr8_119552086_119643839	119564816	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	340	0.0029	0	c.226 others(6): Show c.2264+7G>A		ENPP2	ENSG00000136960.13	transcript	ENST00000075322.11	protein_coding	23/24					chr8	TogoVar

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