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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	chr	external
EME2_chr16_1767810_1786702	1773053	C C	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00323.hp2 HG00735.hp1 HG00323.hp2 HG00735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0049 a0001c0002t0049	a0001c0002t0049g0001 a0001c0002t0049g0001	2	430	0.0047	c.-17 others(4): Show c.-175C>G	EME2	ENSG00000197774.14	transcript	ENST00000568449.7	protein_coding	1/8	chr16	TogoVar
EMILIN2_chr18_2842006_2921003	2847057	T T	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01433.hp1 HG01928.hp2 HG02300.hp2 others(2): Show HG01433.hp1 HG01928.hp2 HG02300.hp2 NA19006.hp2 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0005	a0001c0001t0047 a0001c0001t0048 a0001c0002t0045 others(2): Show a0001c0001t0047 a0001c0001t0048 a0001c0002t0045 a0001c0003t0044 a0002c0005t0046	a0001c0001t0047g0442 a0001c0001t0048g0443 a0001c0002t0045g0444 others(2): Show a0001c0001t0047g0442 a0001c0001t0048g0443 a0001c0002t0045g0444 a0001c0003t0044g0441 a0002c0005t0046g0440	5	452	0.0111	c.-13 others(4): Show c.-132T>C	EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	1/8	chr18	TogoVar
EMILIN2_chr18_2842006_2921003	2847163	G G	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0078 a0002c0005t0078	a0002c0005t0078g0258 a0002c0005t0078g0258	1	452	0.0022	c.-26 others(3): Show c.-26G>T	EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	1/8	chr18	TogoVar
EML4_chr2_42164353_42337548	42169582	A A	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(237): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp1 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18990.hp2 NA18991.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA19000.hp1 NA19001.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19055.hp2 NA19056.hp1 NA19058.hp1 NA19062.hp2 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp2 NA19089.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009	a0001c0001 a0001c0005 a0001c0009 others(9): Show a0001c0001 a0001c0005 a0001c0009 a0001c0010 a0001c0012 a0002c0002 a0003c0003 a0004c0004 a0006c0007 a0007c0008 a0008c0011 a0009c0013	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(28): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0005t0003 a0001c0005t0014 a0001c0009t0002 a0001c0010t0002 a0001c0012t0003 a0002c0002t0002 a0002c0002t0006 a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 a0003c0003t0012 a0003c0003t0017 a0003c0003t0023 a0004c0004t0003 a0006c0007t0002 a0007c0008t0003 a0008c0011t0003 a0009c0013t0003	a0001c0001t0002g0122 a0001c0001t0002g0187 a0001c0001t0002g0189 others(237): Show a0001c0001t0002g0122 a0001c0001t0002g0187 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0201 a0001c0001t0002g0203 a0001c0001t0002g0207 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0226 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0251 a0001c0001t0002g0254 a0001c0001t0002g0266 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0275 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0288 a0001c0001t0002g0300 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0352 a0001c0001t0002g0356 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0188 a0001c0001t0003g0190 a0001c0001t0003g0194 a0001c0001t0003g0210 a0001c0001t0003g0346 a0001c0001t0003g0355 a0001c0001t0005g0309 a0001c0001t0005g0311 a0001c0001t0005g0312 a0001c0001t0005g0313 a0001c0001t0005g0314 a0001c0001t0005g0315 a0001c0001t0005g0316 a0001c0001t0005g0317 a0001c0001t0005g0318 a0001c0001t0005g0319 a0001c0001t0005g0320 a0001c0001t0005g0321 a0001c0001t0005g0322 a0001c0001t0005g0323 a0001c0001t0005g0324 a0001c0001t0005g0327 a0001c0001t0005g0328 a0001c0001t0005g0329 a0001c0001t0005g0330 a0001c0001t0005g0331 a0001c0001t0005g0334 a0001c0001t0005g0335 a0001c0001t0005g0340 a0001c0001t0006g0135 a0001c0001t0006g0193 a0001c0001t0006g0199 a0001c0001t0006g0202 a0001c0001t0006g0205 a0001c0001t0006g0208 a0001c0001t0006g0209 a0001c0001t0006g0222 a0001c0001t0006g0237 a0001c0001t0006g0263 a0001c0001t0006g0264 a0001c0001t0006g0274 a0001c0001t0006g0289 a0001c0001t0006g0290 a0001c0001t0006g0299 a0001c0001t0006g0310 a0001c0001t0006g0325 a0001c0001t0006g0343 a0001c0001t0006g0347 a0001c0001t0006g0350 a0001c0001t0010g0126 a0001c0001t0010g0137 a0001c0001t0010g0138 a0001c0001t0011g0149 a0001c0001t0011g0150 a0001c0001t0011g0185 a0001c0001t0015g0155 a0001c0001t0018g0174 a0001c0001t0019g0125 a0001c0001t0020g0136 a0001c0001t0021g0336 a0001c0001t0022g0326 a0001c0001t0024g0002 a0001c0005t0003g0337 a0001c0005t0003g0341 a0001c0005t0003g0342 a0001c0005t0014g0348 a0001c0005t0014g0349 a0001c0009t0002g0198 a0001c0010t0002g0351 a0001c0012t0003g0339 a0002c0002t0002g0003 a0002c0002t0002g0344 a0002c0002t0002g0345 a0002c0002t0006g0204 a0003c0003t0002g0118 a0003c0003t0002g0206 a0003c0003t0002g0214 a0003c0003t0002g0215 a0003c0003t0002g0220 a0003c0003t0002g0224 a0003c0003t0002g0225 a0003c0003t0002g0232 a0003c0003t0002g0233 a0003c0003t0002g0243 a0003c0003t0002g0252 a0003c0003t0002g0253 a0003c0003t0002g0260 a0003c0003t0002g0261 a0003c0003t0002g0262 a0003c0003t0002g0265 a0003c0003t0002g0267 a0003c0003t0002g0268 a0003c0003t0002g0277 a0003c0003t0002g0284 a0003c0003t0002g0285 a0003c0003t0002g0286 a0003c0003t0002g0291 a0003c0003t0002g0292 a0003c0003t0002g0293 a0003c0003t0002g0294 a0003c0003t0002g0295 a0003c0003t0002g0296 a0003c0003t0002g0297 a0003c0003t0002g0353 a0003c0003t0003g0186 a0003c0003t0004g0211 a0003c0003t0004g0212 a0003c0003t0004g0221 a0003c0003t0004g0223 a0003c0003t0004g0227 a0003c0003t0004g0228 a0003c0003t0004g0229 a0003c0003t0004g0244 a0003c0003t0004g0245 a0003c0003t0004g0246 a0003c0003t0004g0247 a0003c0003t0004g0248 a0003c0003t0004g0249 a0003c0003t0004g0250 a0003c0003t0004g0255 a0003c0003t0004g0256 a0003c0003t0004g0269 a0003c0003t0004g0270 a0003c0003t0004g0271 a0003c0003t0004g0276 a0003c0003t0004g0287 a0003c0003t0004g0302 a0003c0003t0004g0308 a0003c0003t0012g0257 a0003c0003t0012g0258 a0003c0003t0012g0259 a0003c0003t0017g0298 a0003c0003t0023g0200 a0004c0004t0003g0139 a0004c0004t0003g0142 a0004c0004t0003g0143 a0004c0004t0003g0144 a0004c0004t0003g0145 a0006c0007t0002g0301 a0007c0008t0003g0338 a0008c0011t0003g0213 a0009c0013t0003g0154	240	358	0.6704	c.-30 others(3): Show c.-30A>G	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	1/23	chr2	TogoVar
EML5_chr14_88607431_88797953	88792533	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(161): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG04184.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18943.hp1 NA18944.hp2 NA18947.hp2 NA18948.hp1 NA18952.hp1 NA18953.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18968.hp1 NA18971.hp1 NA18973.hp1 NA18974.hp1 NA18978.hp1 NA18978.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA18994.hp2 NA18995.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp2 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19084.hp2 NA19086.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20805.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0009	a0001c0001 a0001c0003 a0001c0009 others(5): Show a0001c0001 a0001c0003 a0001c0009 a0002c0002 a0002c0004 a0005c0014 a0006c0008 a0009c0012	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(27): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0003t0004 a0001c0003t0006 a0001c0003t0013 a0001c0003t0020 a0001c0009t0013 a0002c0002t0001 a0002c0002t0006 a0002c0002t0021 a0002c0002t0037 a0002c0002t0038 a0002c0004t0001 a0005c0014t0001 a0006c0008t0025 a0009c0012t0001	a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0210 others(160): Show a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0280 a0001c0001t0001g0283 a0001c0001t0001g0290 a0001c0001t0005g0171 a0001c0001t0005g0172 a0001c0001t0005g0175 a0001c0001t0005g0176 a0001c0001t0005g0177 a0001c0001t0005g0178 a0001c0001t0005g0179 a0001c0001t0005g0180 a0001c0001t0005g0181 a0001c0001t0005g0182 a0001c0001t0005g0183 a0001c0001t0005g0184 a0001c0001t0005g0185 a0001c0001t0005g0186 a0001c0001t0005g0187 a0001c0001t0005g0189 a0001c0001t0005g0192 a0001c0001t0006g0003 a0001c0001t0006g0188 a0001c0001t0006g0202 a0001c0001t0006g0208 a0001c0001t0006g0218 a0001c0001t0006g0219 a0001c0001t0006g0220 a0001c0001t0006g0284 a0001c0001t0006g0285 a0001c0001t0006g0286 a0001c0001t0006g0287 a0001c0001t0011g0213 a0001c0001t0011g0214 a0001c0001t0011g0215 a0001c0001t0011g0216 a0001c0001t0012g0324 a0001c0001t0012g0325 a0001c0001t0012g0326 a0001c0001t0012g0327 a0001c0001t0014g0004 a0001c0001t0014g0005 a0001c0001t0014g0006 a0001c0001t0019g0212 a0001c0001t0019g0217 a0001c0001t0022g0203 a0001c0001t0022g0204 a0001c0001t0023g0195 a0001c0001t0023g0197 a0001c0001t0024g0206 a0001c0001t0024g0207 a0001c0001t0025g0191 a0001c0001t0026g0293 a0001c0001t0026g0294 a0001c0001t0027g0295 a0001c0001t0027g0296 a0001c0001t0034g0198 a0001c0001t0035g0196 a0001c0001t0036g0205 a0001c0003t0004g0302 a0001c0003t0004g0303 a0001c0003t0004g0304 a0001c0003t0004g0305 a0001c0003t0004g0306 a0001c0003t0004g0307 a0001c0003t0004g0308 a0001c0003t0004g0309 a0001c0003t0004g0310 a0001c0003t0004g0311 a0001c0003t0004g0312 a0001c0003t0004g0313 a0001c0003t0004g0314 a0001c0003t0004g0315 a0001c0003t0004g0316 a0001c0003t0004g0317 a0001c0003t0004g0318 a0001c0003t0004g0319 a0001c0003t0004g0320 a0001c0003t0004g0321 a0001c0003t0004g0322 a0001c0003t0004g0323 a0001c0003t0004g0328 a0001c0003t0004g0329 a0001c0003t0006g0221 a0001c0003t0013g0298 a0001c0003t0013g0299 a0001c0003t0013g0300 a0001c0003t0020g0173 a0001c0003t0020g0174 a0001c0009t0013g0301 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0200 a0002c0002t0001g0209 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0288 a0002c0002t0001g0289 a0002c0002t0001g0291 a0002c0002t0006g0237 a0002c0002t0021g0273 a0002c0002t0021g0292 a0002c0002t0037g0262 a0002c0002t0038g0297 a0002c0004t0001g0228 a0002c0004t0001g0234 a0002c0004t0001g0240 a0002c0004t0001g0241 a0002c0004t0001g0242 a0005c0014t0001g0272 a0006c0008t0025g0190 a0009c0012t0001g0247	164	332	0.4940	c.-30 others(3): Show c.-30C>T	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding	1/44	chr14	TogoVar
EML6_chr2_54718662_54977025	54723733	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0057 a0001c0021t0057	a0001c0021t0057g0262 a0001c0021t0057g0262	1	264	0.0038	c.-55 others(4): Show c.-558C>T	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	1/42	chr2	TogoVar
EMP3_chr19_48320552_48335553	48325600	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02647.hp1 HG03540.hp2 NA19240.hp1 HG02647.hp1 HG03540.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0004 a0001c0001t0006g0004	3	376	0.0080	c.-26 others(3): Show c.-26C>T	EMP3	ENSG00000142227.11	transcript	ENST00000270221.11	protein_coding	1/5	chr19	TogoVar
EMP3_chr19_48320552_48335553	48326834	C C	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00621.hp1 NA18970.hp1 HG00621.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0001 a0001c0001t0008g0001	2	376	0.0053	c.-11 others(3): Show c.-11C>G	EMP3	ENSG00000142227.11	transcript	ENST00000270221.11	protein_coding	2/5	chr19	TogoVar
EMX1_chr2_72912519_72939891	72917757	C C	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02622.hp1 HG02717.hp1 HG03098.hp2 others(1): Show HG02622.hp1 HG02717.hp1 HG03098.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0011 a0001c0001t0004g0011	4	306	0.0131	c.-96 others(3): Show c.-96C>G	EMX1	ENSG00000135638.14	transcript	ENST00000258106.11	protein_coding	1/3	chr2	TogoVar
EN1_chr2_118837171_118852648	118847245	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0057 a0001c0001t0014g0057	1	442	0.0023	c.-78 others(3): Show c.-78C>T	EN1	ENSG00000163064.7	transcript	ENST00000295206.7	protein_coding	1/2	chr2	TogoVar
ENAH_chr1_225481829_225658123	225652837	C C	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0001 a0001c0001t0042g0001	1	308	0.0033	c.-14 others(4): Show c.-147G>C	ENAH	ENSG00000154380.19	transcript	ENST00000366843.7	protein_coding	1/14	chr1	TogoVar
ENDOG_chr9_128813500_128827676	128818515	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA19068.hp1 NA19068.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0002 a0002c0002t0006g0002	1	420	0.0024	c.-17 others(4): Show c.-170C>T	ENDOG	ENSG00000167136.7	transcript	ENST00000372642.5	protein_coding	1/3	chr9	TogoVar
ENDOV_chr17_80410167_80443086	80415183	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02015.hp2 HG02071.hp2 HG02015.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0054 a0001c0001t0019g0054	2	420	0.0048	c.-12 others(3): Show c.-12C>T	ENDOV	ENSG00000173818.17	transcript	ENST00000518137.6	protein_coding	1/10	chr17	TogoVar
ENGASE_chr17_79069824_79093599	79074843	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01261.hp1 HG01884.hp1 HG01884.hp2 others(6): Show HG01261.hp1 HG01884.hp1 HG01884.hp2 HG02622.hp1 HG02723.hp1 HG03041.hp2 HG03098.hp2 HG03540.hp1 NA18522.hp1	a0001 a0001	a0001c0008 a0001c0012 a0001c0053 a0001c0008 a0001c0012 a0001c0053	a0001c0008t0022 a0001c0008t0082 a0001c0012t0021 others(1): Show a0001c0008t0022 a0001c0008t0082 a0001c0012t0021 a0001c0053t0022	a0001c0008t0022g0017 a0001c0008t0082g0017 a0001c0012t0021g0045 others(3): Show a0001c0008t0022g0017 a0001c0008t0082g0017 a0001c0012t0021g0045 a0001c0012t0021g0109 a0001c0012t0021g0110 a0001c0053t0022g0017	9	420	0.0214	c.-10 others(4): Show c.-102C>T	ENGASE	ENSG00000167280.17	transcript	ENST00000579016.6	protein_coding	1/14	chr17	TogoVar
ENG_chr9_127810016_127859658	127854425	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0010 a0001c0006t0010	a0001c0006t0010g0337 a0001c0006t0010g0337	1	344	0.0029	c.-70 others(3): Show c.-70C>T	ENG	ENSG00000106991.14	transcript	ENST00000373203.9	protein_coding	1/15	chr9	TogoVar
ENG_chr9_127810016_127859658	127854476	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0339 a0001c0001t0012g0339	1	344	0.0029	c.-12 others(4): Show c.-121C>T	ENG	ENSG00000106991.14	transcript	ENST00000373203.9	protein_coding	1/15	chr9	TogoVar
ENKD1_chr16_67657945_67671750	67666710	C C	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0009	3	274	0.0110	c.-26 others(4): Show c.-268G>T	ENKD1	ENSG00000124074.12	transcript	ENST00000243878.9	protein_coding	1/7	chr16	TogoVar
ENOX1_chr13_43208130_43791972	43786880	T T	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0188 a0001c0001t0042g0188	1	188	0.0053	c.-51 others(4): Show c.-513A>G	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	1/17	chr13	TogoVar
ENPP1_chr6_131803020_131900155	131808026	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0140 a0001c0001t0089g0140	1	292	0.0034	c.-10 others(3): Show c.-10C>T	ENPP1	ENSG00000197594.14	transcript	ENST00000647893.1	protein_coding	1/25	chr6	TogoVar
ENPP4_chr6_46124989_46151688	46139575	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00140.hp1 HG00408.hp2 HG00423.hp1 others(78): Show HG00140.hp1 HG00408.hp2 HG00423.hp1 HG00597.hp1 HG00597.hp2 HG00735.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01516.hp1 HG01934.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02155.hp1 HG02155.hp2 HG02523.hp1 HG02602.hp1 HG02683.hp1 HG02698.hp2 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04204.hp1 HG04228.hp2 NA18940.hp1 NA18941.hp2 NA18943.hp2 NA18947.hp2 NA18952.hp2 NA18956.hp1 NA18957.hp1 NA18961.hp2 NA18965.hp2 NA18967.hp1 NA18968.hp2 NA18970.hp2 NA18974.hp2 NA18975.hp2 NA18978.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18989.hp1 NA18991.hp1 NA18994.hp1 NA18997.hp1 NA19000.hp1 NA19003.hp2 NA19006.hp1 NA19007.hp1 NA19010.hp1 NA19012.hp1 NA19057.hp2 NA19063.hp1 NA19066.hp1 NA19066.hp2 NA19074.hp2 NA19075.hp1 NA19076.hp1 NA19078.hp2 NA19082.hp1 NA19090.hp2 NA20752.hp1 NA20905.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0006 a0002c0002 a0004c0006	a0002c0002t0002 a0002c0002t0012 a0004c0006t0019 a0002c0002t0002 a0002c0002t0012 a0004c0006t0019	a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0008 others(14): Show a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0008 a0002c0002t0002g0011 a0002c0002t0002g0014 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0031 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0012g0005 a0002c0002t0012g0037 a0004c0006t0019g0036	81	426	0.1901	c.-9G others(2): Show c.-9G>A	ENPP4	ENSG00000001561.7	transcript	ENST00000321037.5	protein_coding	2/4	chr6	TogoVar
ENTPD4_chr8_23424162_23462647	23449983	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0050 a0001c0003t0050	a0001c0003t0050g0150 a0001c0003t0050g0150	1	412	0.0024	c.-83 others(3): Show c.-83C>T	ENTPD4	ENSG00000197217.13	transcript	ENST00000358689.9	protein_coding	2/13	chr8	TogoVar
ENTPD6_chr20_25190712_25233075	25195763	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02257.hp1 HG02258.hp1 HG02922.hp2 others(5): Show HG02257.hp1 HG02258.hp1 HG02922.hp2 HG02976.hp1 HG03130.hp2 HG03139.hp2 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0018 a0001c0001t0019 a0001c0001t0009 a0001c0001t0018 a0001c0001t0019	a0001c0001t0009g0019 a0001c0001t0018g0139 a0001c0001t0018g0141 others(2): Show a0001c0001t0009g0019 a0001c0001t0018g0139 a0001c0001t0018g0141 a0001c0001t0019g0092 a0001c0001t0019g0140	8	380	0.0211	c.-12 others(4): Show c.-120C>T	ENTPD6	ENSG00000197586.13	transcript	ENST00000376652.9	protein_coding	1/15	chr20	TogoVar
ENTR1_chr9_136396922_136415614	136410572	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00099.hp2 HG00733.hp1 HG00735.hp2 others(44): Show HG00099.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01081.hp2 HG01109.hp2 HG01192.hp1 HG01243.hp2 HG01261.hp2 HG01496.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02132.hp2 HG02273.hp2 HG02300.hp2 HG02559.hp1 HG02572.hp1 HG02698.hp1 HG02895.hp1 HG03139.hp1 HG03654.hp2 HG03669.hp2 HG03834.hp2 HG04184.hp1 HG04204.hp2 HG04228.hp2 NA18747.hp2 NA18954.hp2 NA18959.hp2 NA18966.hp2 NA18971.hp1 NA18975.hp1 NA18982.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA19005.hp1 NA19066.hp2 NA19067.hp2	a0001 a0003 a0011 others(1): Show a0001 a0003 a0011 a0012	a0001c0001 a0001c0002 a0003c0008 others(2): Show a0001c0001 a0001c0002 a0003c0008 a0011c0021 a0012c0022	a0001c0001t0012 a0001c0002t0003 a0001c0002t0007 others(9): Show a0001c0001t0012 a0001c0002t0003 a0001c0002t0007 a0001c0002t0008 a0001c0002t0010 a0001c0002t0011 a0001c0002t0013 a0001c0002t0014 a0001c0002t0015 a0003c0008t0003 a0011c0021t0003 a0012c0022t0003	a0001c0001t0012g0065 a0001c0002t0003g0004 a0001c0002t0003g0014 others(23): Show a0001c0001t0012g0065 a0001c0002t0003g0004 a0001c0002t0003g0014 a0001c0002t0003g0024 a0001c0002t0003g0025 a0001c0002t0003g0056 a0001c0002t0003g0057 a0001c0002t0003g0058 a0001c0002t0003g0059 a0001c0002t0003g0064 a0001c0002t0003g0066 a0001c0002t0003g0067 a0001c0002t0007g0023 a0001c0002t0007g0051 a0001c0002t0008g0013 a0001c0002t0010g0223 a0001c0002t0010g0224 a0001c0002t0011g0055 a0001c0002t0013g0061 a0001c0002t0014g0063 a0001c0002t0015g0068 a0003c0008t0003g0052 a0003c0008t0003g0053 a0003c0008t0003g0054 a0011c0021t0003g0060 a0012c0022t0003g0062	47	412	0.1141	c.-17 others(4): Show c.-175C>T	ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	1/10	chr9	TogoVar
ENTREP3_chr1_155242205_155260483	155255182	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0238 a0001c0001t0014g0238	1	395	0.0025	c.-30 others(4): Show c.-305C>T	ENTREP3	ENSG00000160767.23	transcript	ENST00000361361.7	protein_coding	1/12	chr1	TogoVar
ENTREP3_chr1_155242205_155260483	155255378	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG04199.hp1 HG04199.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0015 a0008c0010t0015	a0008c0010t0015g0244 a0008c0010t0015g0244	1	395	0.0025	c.-50 others(4): Show c.-501C>T	ENTREP3	ENSG00000160767.23	transcript	ENST00000361361.7	protein_coding	1/12	chr1	TogoVar
EOGT_chr3_68970225_69018684	69012727	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0270 a0001c0001t0064g0270	1	444	0.0023	c.-28 others(4): Show c.-283C>T	EOGT	ENSG00000163378.14	transcript	ENST00000383701.8	protein_coding	2/18	chr3	TogoVar
EOLA2_chrX_149927197_149943491	149934041	G G	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02055.hp1 HG02145.hp1 HG02280.hp2 others(9): Show HG02055.hp1 HG02145.hp1 HG02280.hp2 HG02818.hp1 HG02970.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp2 NA18984.hp1 NA19030.hp2 NA19090.hp2	a0003 a0004 a0005 a0003 a0004 a0005	a0003c0003 a0004c0005 a0005c0008 a0003c0003 a0004c0005 a0005c0008	a0003c0003t0002 a0004c0005t0004 a0005c0008t0002 a0003c0003t0002 a0004c0005t0004 a0005c0008t0002	a0003c0003t0002g0014 a0003c0003t0002g0035 a0003c0003t0002g0118 others(4): Show a0003c0003t0002g0014 a0003c0003t0002g0035 a0003c0003t0002g0118 a0004c0005t0004g0051 a0004c0005t0004g0052 a0004c0005t0004g0060 a0005c0008t0002g0117	12	331	0.0363	c.-66 others(3): Show c.-66C>G	EOLA2	ENSG00000197021.9	transcript	ENST00000370406.8	protein_coding	3/5	chrX	TogoVar
EP300_chr22_41087592_41185077	41092772	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0248 a0001c0001t0077g0248	1	300	0.0033	c.-23 others(4): Show c.-233C>T	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	1/31	chr22	TogoVar
EPB41L4A_chr5_112157619_112424277	112419269	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0226 a0001c0001t0051g0226	1	228	0.0044	c.-23 others(4): Show c.-230C>T	EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/23	chr5	TogoVar
EPB41L4B_chr9_109166974_109326059	109320586	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02027.hp2 HG02080.hp1 HG02132.hp2 others(6): Show HG02027.hp2 HG02080.hp1 HG02132.hp2 NA18612.hp2 NA18974.hp1 NA19007.hp1 NA19011.hp2 NA19083.hp2 NA19087.hp1	a0003 a0004 a0003 a0004	a0003c0006 a0003c0007 a0004c0009 a0003c0006 a0003c0007 a0004c0009	a0003c0006t0018 a0003c0007t0023 a0004c0009t0059 others(1): Show a0003c0006t0018 a0003c0007t0023 a0004c0009t0059 a0004c0009t0060	a0003c0006t0018g0216 a0003c0006t0018g0217 a0003c0006t0018g0223 others(6): Show a0003c0006t0018g0216 a0003c0006t0018g0217 a0003c0006t0018g0223 a0003c0006t0018g0224 a0003c0007t0023g0218 a0003c0007t0023g0219 a0003c0007t0023g0222 a0004c0009t0059g0221 a0004c0009t0060g0220	9	318	0.0283	c.-14 others(4): Show c.-140C>T	EPB41L4B	ENSG00000095203.15	transcript	ENST00000374566.8	protein_coding	1/26	chr9	TogoVar
EPB41L4B_chr9_109166974_109326059	109320856	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0072 a0001c0002t0072	a0001c0002t0072g0313 a0001c0002t0072g0313	1	318	0.0031	c.-41 others(4): Show c.-410C>T	EPB41L4B	ENSG00000095203.15	transcript	ENST00000374566.8	protein_coding	1/26	chr9	TogoVar
EPHA3_chr3_89102621_89487134	89107709	A A	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0158 a0001c0001t0021g0158	1	200	0.0050	c.-40 others(3): Show c.-40A>T	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	1/17	chr3	TogoVar
EPHA5_chr4_65314567_65675489	65669810	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0231 a0001c0001t0058g0231	1	234	0.0043	c.-68 others(3): Show c.-68C>T	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	1/17	chr4	TogoVar
EPHA5_chr4_65314567_65675489	65670365	G G	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0061 a0001c0010t0061	a0001c0010t0061g0234 a0001c0010t0061g0234	1	234	0.0043	c.-62 others(4): Show c.-623C>G	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	1/17	chr4	TogoVar
EPHB1_chr3_134790260_135265467	134795583	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01109.hp1 HG02559.hp2 HG02723.hp2 others(7): Show HG01109.hp1 HG02559.hp2 HG02723.hp2 HG02809.hp2 HG02896.hp1 HG02976.hp2 HG03098.hp1 HG03225.hp2 HG03471.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007	a0001c0001t0007 a0001c0001t0009 a0001c0001t0014 others(7): Show a0001c0001t0007 a0001c0001t0009 a0001c0001t0014 a0001c0002t0007 a0001c0003t0007 a0001c0004t0009 a0001c0004t0014 a0001c0006t0022 a0001c0007t0007 a0001c0007t0009	a0001c0001t0007g0027 a0001c0001t0009g0042 a0001c0001t0014g0029 others(7): Show a0001c0001t0007g0027 a0001c0001t0009g0042 a0001c0001t0014g0029 a0001c0002t0007g0026 a0001c0003t0007g0044 a0001c0004t0009g0023 a0001c0004t0014g0018 a0001c0006t0022g0019 a0001c0007t0007g0043 a0001c0007t0009g0028	10	134	0.0746	c.-49 others(3): Show c.-49C>T	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	1/16	chr3	TogoVar
EPOP_chr17_38666703_38679957	38674936	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01884.hp2 HG02109.hp2 HG02559.hp1 others(13): Show HG01884.hp2 HG02109.hp2 HG02559.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02886.hp1 HG02965.hp1 HG02976.hp1 HG03130.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03540.hp1 NA18906.hp1 NA21309.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0000 a0003c0003t0002g0000	16	351	0.0456	c.-44 others(4): Show c.-441C>T	EPOP	ENSG00000273604.2	transcript	ENST00000621654.2	protein_coding	1/1	chr17	TogoVar
EPS8L2_chr11_701231_732727	706284	G G	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00140.hp2 HG00280.hp1 HG00408.hp2 others(87): Show HG00140.hp2 HG00280.hp1 HG00408.hp2 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG01123.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02486.hp2 HG02559.hp2 HG02615.hp1 HG02698.hp2 HG02717.hp2 HG02738.hp2 HG02886.hp2 HG02895.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03130.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03834.hp1 HG04115.hp2 HG04204.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18943.hp2 NA18945.hp1 NA18947.hp1 NA18951.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18967.hp1 NA18967.hp2 NA18973.hp1 NA18973.hp2 NA18985.hp1 NA18994.hp1 NA19000.hp1 NA19000.hp2 NA19005.hp2 NA19012.hp1 NA19043.hp1 NA19055.hp2 NA19064.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA19086.hp1 NA19086.hp2 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0003c0008 a0006c0014	a0001c0001t0003 a0001c0001t0004 a0001c0001t0025 others(13): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0025 a0001c0002t0004 a0001c0003t0003 a0001c0003t0004 a0001c0003t0024 a0001c0004t0004 a0001c0004t0005 a0001c0004t0014 a0001c0004t0026 a0001c0005t0003 a0001c0005t0004 a0001c0006t0005 a0003c0008t0004 a0006c0014t0005	a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 others(79): Show a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0086 a0001c0001t0003g0095 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0103 a0001c0001t0004g0012 a0001c0001t0004g0014 a0001c0001t0004g0035 a0001c0001t0004g0053 a0001c0001t0004g0061 a0001c0001t0004g0076 a0001c0001t0004g0080 a0001c0001t0004g0081 a0001c0001t0004g0082 a0001c0001t0004g0088 a0001c0001t0004g0089 a0001c0001t0004g0093 a0001c0001t0025g0087 a0001c0002t0004g0010 a0001c0002t0004g0041 a0001c0002t0004g0047 a0001c0002t0004g0048 a0001c0002t0004g0066 a0001c0002t0004g0067 a0001c0003t0003g0009 a0001c0003t0003g0015 a0001c0003t0003g0032 a0001c0003t0003g0033 a0001c0003t0003g0034 a0001c0003t0003g0036 a0001c0003t0003g0054 a0001c0003t0003g0090 a0001c0003t0003g0091 a0001c0003t0003g0092 a0001c0003t0003g0102 a0001c0003t0003g0104 a0001c0003t0004g0039 a0001c0003t0004g0056 a0001c0003t0004g0105 a0001c0003t0024g0359 a0001c0004t0004g0042 a0001c0004t0004g0043 a0001c0004t0005g0011 a0001c0004t0005g0013 a0001c0004t0005g0037 a0001c0004t0005g0044 a0001c0004t0005g0045 a0001c0004t0005g0049 a0001c0004t0005g0050 a0001c0004t0005g0051 a0001c0004t0005g0052 a0001c0004t0005g0055 a0001c0004t0005g0060 a0001c0004t0005g0077 a0001c0004t0005g0083 a0001c0004t0005g0097 a0001c0004t0014g0031 a0001c0004t0026g0084 a0001c0005t0003g0085 a0001c0005t0004g0068 a0001c0006t0005g0038 a0001c0006t0005g0094 a0001c0006t0005g0096 a0003c0008t0004g0040 a0006c0014t0005g0046	90	406	0.2217	c.-83 others(3): Show c.-83G>T	EPS8L2	ENSG00000177106.17	transcript	ENST00000318562.13	protein_coding	1/21	chr11	TogoVar
EPS8L2_chr11_701231_732727	709385	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02083.hp1 NA18969.hp2 HG02083.hp1 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0023 a0001c0001t0022 a0001c0001t0023	a0001c0001t0022g0244 a0001c0001t0023g0255 a0001c0001t0022g0244 a0001c0001t0023g0255	2	406	0.0049	c.-23 others(3): Show c.-23C>T	EPS8L2	ENSG00000177106.17	transcript	ENST00000318562.13	protein_coding	2/21	chr11	TogoVar
EPS8L2_chr11_701231_732727	709392	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0204 a0001c0001t0021g0204	1	406	0.0025	c.-16 others(3): Show c.-16C>T	EPS8L2	ENSG00000177106.17	transcript	ENST00000318562.13	protein_coding	2/21	chr11	TogoVar
EPSTI1_chr13_42881388_42997241	42992237	A A	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00280.hp1 HG00280.hp2 HG00408.hp1 others(177): Show HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02293.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18951.hp1 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18967.hp1 NA18970.hp2 NA18972.hp1 NA18975.hp1 NA18975.hp2 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA19006.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp1 NA19080.hp2 NA19082.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0008	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0003c0004 a0005c0009 a0008c0011	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(37): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0026 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0002t0001 a0001c0002t0005 a0001c0002t0008 a0001c0002t0009 a0001c0002t0011 a0001c0002t0020 a0001c0002t0023 a0001c0002t0026 a0001c0002t0027 a0001c0002t0031 a0001c0002t0036 a0001c0002t0037 a0001c0003t0011 a0001c0003t0038 a0001c0005t0008 a0003c0004t0011 a0005c0009t0041 a0008c0011t0001	a0001c0001t0001g0026 a0001c0001t0004g0039 a0001c0001t0004g0056 others(177): Show a0001c0001t0001g0026 a0001c0001t0004g0039 a0001c0001t0004g0056 a0001c0001t0004g0058 a0001c0001t0004g0068 a0001c0001t0004g0073 a0001c0001t0004g0078 a0001c0001t0004g0079 a0001c0001t0004g0084 a0001c0001t0004g0086 a0001c0001t0004g0087 a0001c0001t0004g0091 a0001c0001t0004g0093 a0001c0001t0004g0107 a0001c0001t0004g0124 a0001c0001t0004g0129 a0001c0001t0004g0132 a0001c0001t0004g0136 a0001c0001t0004g0142 a0001c0001t0004g0146 a0001c0001t0004g0152 a0001c0001t0004g0157 a0001c0001t0004g0162 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0167 a0001c0001t0004g0173 a0001c0001t0004g0176 a0001c0001t0008g0007 a0001c0001t0008g0012 a0001c0001t0008g0027 a0001c0001t0008g0060 a0001c0001t0008g0080 a0001c0001t0008g0094 a0001c0001t0008g0123 a0001c0001t0008g0144 a0001c0001t0008g0145 a0001c0001t0008g0160 a0001c0001t0008g0165 a0001c0001t0009g0019 a0001c0001t0013g0025 a0001c0001t0013g0041 a0001c0001t0013g0096 a0001c0001t0013g0106 a0001c0001t0013g0110 a0001c0001t0013g0118 a0001c0001t0013g0125 a0001c0001t0013g0131 a0001c0001t0013g0135 a0001c0001t0013g0140 a0001c0001t0017g0067 a0001c0001t0017g0113 a0001c0001t0017g0120 a0001c0001t0017g0126 a0001c0001t0017g0159 a0001c0001t0017g0166 a0001c0001t0017g0174 a0001c0001t0018g0005 a0001c0001t0018g0017 a0001c0001t0018g0018 a0001c0001t0018g0030 a0001c0001t0018g0052 a0001c0001t0018g0053 a0001c0001t0020g0023 a0001c0001t0020g0065 a0001c0001t0020g0077 a0001c0001t0020g0154 a0001c0001t0021g0148 a0001c0001t0021g0155 a0001c0001t0021g0168 a0001c0001t0021g0169 a0001c0001t0021g0170 a0001c0001t0022g0008 a0001c0001t0022g0010 a0001c0001t0022g0020 a0001c0001t0022g0021 a0001c0001t0022g0112 a0001c0001t0026g0116 a0001c0001t0029g0040 a0001c0001t0030g0133 a0001c0001t0032g0014 a0001c0001t0033g0101 a0001c0001t0034g0171 a0001c0001t0035g0098 a0001c0001t0039g0036 a0001c0001t0040g0143 a0001c0001t0042g0069 a0001c0001t0043g0050 a0001c0001t0044g0066 a0001c0002t0001g0002 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0046 a0001c0002t0001g0049 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0001g0059 a0001c0002t0001g0062 a0001c0002t0001g0074 a0001c0002t0001g0081 a0001c0002t0001g0085 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0095 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0111 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0117 a0001c0002t0001g0122 a0001c0002t0001g0151 a0001c0002t0001g0158 a0001c0002t0001g0175 a0001c0002t0001g0180 a0001c0002t0005g0003 a0001c0002t0005g0004 a0001c0002t0005g0035 a0001c0002t0005g0038 a0001c0002t0005g0048 a0001c0002t0005g0061 a0001c0002t0005g0064 a0001c0002t0005g0072 a0001c0002t0005g0082 a0001c0002t0005g0097 a0001c0002t0005g0102 a0001c0002t0005g0108 a0001c0002t0005g0127 a0001c0002t0005g0128 a0001c0002t0005g0134 a0001c0002t0005g0149 a0001c0002t0005g0153 a0001c0002t0005g0178 a0001c0002t0005g0179 a0001c0002t0005g0181 a0001c0002t0008g0161 a0001c0002t0008g0177 a0001c0002t0009g0011 a0001c0002t0009g0037 a0001c0002t0009g0045 a0001c0002t0009g0047 a0001c0002t0009g0075 a0001c0002t0009g0099 a0001c0002t0009g0109 a0001c0002t0009g0119 a0001c0002t0009g0121 a0001c0002t0009g0130 a0001c0002t0009g0138 a0001c0002t0011g0009 a0001c0002t0011g0015 a0001c0002t0011g0016 a0001c0002t0011g0022 a0001c0002t0011g0024 a0001c0002t0011g0031 a0001c0002t0011g0071 a0001c0002t0011g0147 a0001c0002t0011g0156 a0001c0002t0020g0150 a0001c0002t0023g0034 a0001c0002t0023g0090 a0001c0002t0023g0100 a0001c0002t0023g0139 a0001c0002t0026g0076 a0001c0002t0027g0063 a0001c0002t0027g0137 a0001c0002t0031g0070 a0001c0002t0036g0141 a0001c0002t0037g0092 a0001c0003t0011g0083 a0001c0003t0038g0172 a0001c0005t0008g0013 a0003c0004t0011g0051 a0005c0009t0041g0105 a0008c0011t0001g0006	180	352	0.5114	c.-72 others(3): Show c.-72T>G	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	1/11	chr13	TogoVar
ERAP2_chr5_96871500_96924703	96879641	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01109.hp1 HG01496.hp1 HG01884.hp2 others(2): Show HG01109.hp1 HG01496.hp1 HG01884.hp2 HG02622.hp1 HG03486.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0133 a0001c0004t0011g0134 a0001c0004t0011g0135 others(2): Show a0001c0004t0011g0133 a0001c0004t0011g0134 a0001c0004t0011g0135 a0001c0004t0011g0136 a0001c0004t0011g0137	5	398	0.0126	c.-45 others(3): Show c.-45C>T	ERAP2	ENSG00000164308.17	transcript	ENST00000437043.8	protein_coding	2/19	chr5	TogoVar
ERBB2_chr17_39695064_39733658	39700079	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0043 a0001c0001t0007g0043	1	318	0.0031	c.-16 others(4): Show c.-160C>T	ERBB2	ENSG00000141736.14	transcript	ENST00000269571.10	protein_coding	1/27	chr17	TogoVar
ERBIN_chr5_65921575_66087546	65926792	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA19057.hp2 NA19057.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0017 a0003c0004t0017	a0003c0004t0017g0121 a0003c0004t0017g0121	1	306	0.0033	c.-72 others(3): Show c.-72G>A	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	1/26	chr5	TogoVar
ERBIN_chr5_65921575_66087546	65926801	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03017.hp2 HG03017.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0026 a0003c0004t0026	a0003c0004t0026g0301 a0003c0004t0026g0301	1	306	0.0033	c.-63 others(3): Show c.-63C>T	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	1/26	chr5	TogoVar
ERC2_chr3_55503311_56473467	56468360	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0074 a0001c0002t0013g0074	1	74	0.0135	c.-25 others(4): Show c.-253C>T	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	1/18	chr3	TogoVar
ERCC5_chr13_102841032_102880995	102846204	A A	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0009 a0002c0004t0009	a0002c0004t0009g0008 a0002c0004t0009g0008	1	394	0.0025	c.-63 others(3): Show c.-63A>T	ERCC5	ENSG00000134899.24	transcript	ENST00000652225.2	protein_coding	1/15	chr13	TogoVar
ERCC6L2_chr9_95870691_96023447	95875813	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA20129.hp1 NA20129.hp1	a0025 a0025	a0025c0029 a0025c0029	a0025c0029t0094 a0025c0029t0094	a0025c0029t0094g0207 a0025c0029t0094g0207	1	392	0.0026	c.-22 others(4): Show c.-226C>T	ERCC6L2	ENSG00000182150.19	transcript	ENST00000653738.2	protein_coding	1/19	chr9	TogoVar
ERCC6_chr10_49449470_49544121	49539025	C C	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00621.hp2 HG01891.hp1 HG02074.hp2 others(8): Show HG00621.hp2 HG01891.hp1 HG02074.hp2 HG02451.hp1 HG02717.hp1 HG02809.hp1 HG03130.hp1 NA18906.hp1 NA18953.hp1 NA19043.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0037 a0002c0002t0038 others(1): Show a0002c0002t0006 a0002c0002t0037 a0002c0002t0038 a0002c0002t0039	a0002c0002t0006g0333 a0002c0002t0006g0334 a0002c0002t0006g0336 others(8): Show a0002c0002t0006g0333 a0002c0002t0006g0334 a0002c0002t0006g0336 a0002c0002t0006g0337 a0002c0002t0006g0338 a0002c0002t0006g0340 a0002c0002t0006g0341 a0002c0002t0006g0343 a0002c0002t0037g0342 a0002c0002t0038g0339 a0002c0002t0039g0335	11	388	0.0284	c.-78 others(3): Show c.-78G>T	ERCC6	ENSG00000225830.16	transcript	ENST00000355832.10	protein_coding	1/21	chr10	TogoVar
ERCC6_chr10_49510198_49544121	49539025	C C	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00621.hp1 HG01175.hp1 HG01175.hp2 others(9): Show HG00621.hp1 HG01175.hp1 HG01175.hp2 HG01891.hp2 HG02451.hp2 HG02717.hp1 HG02809.hp1 HG03130.hp1 NA18906.hp1 NA18953.hp1 NA19043.hp2 homoSapiens_chm13v2.hp1	a0002 a0009 a0002 a0009	a0002c0002 a0009c0013 a0002c0002 a0009c0013	a0002c0002t0004 a0009c0013t0004 a0002c0002t0004 a0009c0013t0004	a0002c0002t0004g0210 a0002c0002t0004g0211 a0002c0002t0004g0212 others(9): Show a0002c0002t0004g0210 a0002c0002t0004g0211 a0002c0002t0004g0212 a0002c0002t0004g0213 a0002c0002t0004g0214 a0002c0002t0004g0215 a0002c0002t0004g0217 a0002c0002t0004g0218 a0002c0002t0004g0219 a0002c0002t0004g0220 a0002c0002t0004g0221 a0009c0013t0004g0216	12	402	0.0299	c.-78 others(3): Show c.-78G>T	ERCC6	ENSG00000225830.16	transcript	ENST00000447839.7	protein_coding	1/6	chr10	TogoVar
ERFL_chr19_41902704_41933449	41928391	G G	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0216 a0001c0001t0013g0216	1	330	0.0030	c.-36 others(4): Show c.-365C>G	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/6	chr19	TogoVar

Search by Variant

Search

Search Results (Total: 7409 hits)