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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⚠️ 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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
EIF3CL_chr16_28374715_28408841	28405886	CACACACA others(9): Show CACACACACACACACAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG02258.hp1 HG02280.hp2 others(7): Show HG01106.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp2 HG02647.hp1 HG02809.hp1 HG03540.hp1 HG03927.hp1 NA18522.hp2 NA20129.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0012 a0003c0003 others(1): Show a0001c0001 a0001c0012 a0003c0003 a0006c0009	a0001c0001t0001 a0001c0012t0002 a0003c0003t0002 others(1): Show a0001c0001t0001 a0001c0012t0002 a0003c0003t0002 a0006c0009t0002	a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0012t0002g0009 others(7): Show a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0012t0002g0009 a0003c0003t0002g0010 a0003c0003t0002g0011 a0003c0003t0002g0012 a0003c0003t0002g0013 a0003c0003t0002g0014 a0003c0003t0002g0016 a0006c0009t0002g0015	10	172	0.0581	-16	c.-21 others(27): Show c.-2146_-2131delATGTGTGTGTGTGTGT	EIF3CL	ENSG00000205609.13	transcript	ENST00000380876.5	protein_coding		2046		chr16	TogoVar
EIF3E_chr8_108196216_108253717	108204766	GAGAGAGA others(9): Show GAGAGAGAGAGAGAGAC	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG03540.hp1 NA18947.hp2 others(1): Show HG00738.hp1 HG03540.hp1 NA18947.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 others(1): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0023	a0001c0001t0004g0036 a0001c0001t0005g0089 a0001c0001t0009g0149 others(1): Show a0001c0001t0004g0036 a0001c0001t0005g0089 a0001c0001t0009g0149 a0001c0001t0023g0088	4	348	0.0115	-16	c.106 others(35): Show c.1062-1279_1062-1264delGTCTCTCTCTCTCTCT	EIF3E	ENSG00000104408.11	transcript	ENST00000220849.10	protein_coding	10/12			chr8	TogoVar
EIF3H_chr8_116637130_116760823	116679348	GGGTCAGC others(9): Show GGGTCAGCCCCCCGCCC	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp2 HG00609.hp1 others(80): Show HG00323.hp2 HG00423.hp2 HG00609.hp1 HG00639.hp1 HG01069.hp2 HG01071.hp1 HG01123.hp1 HG01175.hp1 HG01243.hp1 HG01346.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG01981.hp1 HG02004.hp2 HG02027.hp2 HG02071.hp2 HG02083.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02451.hp2 HG02486.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG03195.hp2 HG03209.hp1 HG03516.hp1 HG03834.hp1 NA18522.hp1 NA18747.hp1 NA18939.hp1 NA18941.hp1 NA18942.hp2 NA18943.hp2 NA18952.hp1 NA18957.hp1 NA18960.hp2 NA18964.hp1 NA18969.hp1 NA18973.hp1 NA18977.hp1 NA18978.hp2 NA18979.hp2 NA18985.hp2 NA18986.hp1 NA18989.hp2 NA18990.hp1 NA18993.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19003.hp1 NA19004.hp2 NA19007.hp1 NA19010.hp2 NA19043.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19060.hp2 NA19065.hp1 NA19066.hp1 NA19070.hp1 NA19076.hp2 NA19077.hp1 NA19078.hp1 NA19079.hp1 NA19083.hp2 NA19090.hp1 NA20300.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0019 a0002c0002t0002	a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 others(80): Show a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0196 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0329 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0328 a0001c0001t0002g0335 a0001c0001t0012g0203 a0001c0001t0012g0210 a0001c0001t0012g0211 a0001c0001t0012g0212 a0001c0001t0019g0303 a0002c0002t0002g0260	83	336	0.2470	-16	c.290 others(35): Show c.290-20384_290-20369delGGGCGGGGGGCTGACC	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	2/7			chr8	TogoVar
EIF3H_chr8_116637130_116760823	116703346	ACCGGGAA others(9): Show ACCGGGAAAGGGAGTCT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG01099.hp1 others(57): Show HG00280.hp2 HG00323.hp1 HG01099.hp1 HG01123.hp2 HG01243.hp1 HG01891.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03654.hp1 NA18522.hp1 NA18906.hp2 NA18999.hp1 NA19030.hp1 NA19043.hp1 NA19064.hp2 NA20129.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013	a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 others(57): Show a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0196 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0329 a0001c0001t0005g0197 a0001c0001t0005g0198 a0001c0001t0005g0199 a0001c0001t0005g0200 a0001c0001t0005g0201 a0001c0001t0005g0202 a0001c0001t0005g0213 a0001c0001t0005g0216 a0001c0001t0005g0217 a0001c0001t0005g0218 a0001c0001t0005g0220 a0001c0001t0005g0222 a0001c0001t0005g0223 a0001c0001t0005g0224 a0001c0001t0005g0226 a0001c0001t0005g0227 a0001c0001t0005g0228 a0001c0001t0005g0233 a0001c0001t0005g0234 a0001c0001t0005g0237 a0001c0001t0010g0247 a0001c0001t0010g0248 a0001c0001t0010g0249 a0001c0001t0010g0333 a0001c0001t0011g0004 a0001c0001t0011g0005 a0001c0001t0011g0006 a0001c0001t0011g0008 a0001c0001t0013g0007	60	336	0.1786	-16	c.289 others(35): Show c.289+22654_289+22669delAGACTCCCTTTCCCGG	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	2/7			chr8	TogoVar
EIF3H_chr8_116637130_116760823	116743789	TATATATA others(9): Show TATATATATAAACACAC	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	336	0.0030	-16	c.132 others(35): Show c.132+11861_132+11876delGTGTGTTTATATATAT	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	1/7			chr8	TogoVar
EIF3H_chr8_116637130_116760823	116743795	TATAAACA others(9): Show TATAAACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02280.hp2 HG02486.hp1 others(1): Show HG02055.hp2 HG02280.hp2 HG02486.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0247 a0001c0001t0010g0248 a0001c0001t0010g0249 others(1): Show a0001c0001t0010g0247 a0001c0001t0010g0248 a0001c0001t0010g0249 a0001c0001t0010g0333	4	336	0.0119	-16	c.132 others(35): Show c.132+11855_132+11870delGTGTGTGTGTGTTTAT	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	1/7			chr8	TogoVar
EIF3H_chr8_116637130_116760823	116752665	GAAGAAAG others(9): Show GAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02129.hp2 HG02165.hp2 others(13): Show HG01192.hp1 HG02129.hp2 HG02165.hp2 HG02647.hp1 HG03017.hp1 HG03490.hp2 HG03491.hp1 NA18747.hp2 NA18939.hp2 NA18959.hp2 NA18966.hp1 NA18979.hp2 NA18999.hp1 NA19010.hp2 NA19054.hp2 NA19056.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0002c0002t0002	a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0128 others(13): Show a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0128 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0196 a0001c0001t0001g0232 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0299 a0001c0001t0002g0323 a0001c0001t0003g0014 a0001c0001t0003g0031 a0001c0001t0008g0030 a0002c0002t0002g0260	16	336	0.0476	-16	c.132 others(33): Show c.132+2985_132+3000delTCTTTCTTTCTTTCTT	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	1/7			chr8	TogoVar
EIF3H_chr8_116637130_116760823	116752752	AGAGGGAG others(9): Show AGAGGGAGGGAGGGAGG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02615.hp2 HG03540.hp1 others(2): Show HG02257.hp1 HG02615.hp2 HG03540.hp1 NA18906.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0013 a0001c0001t0011 a0001c0001t0013	a0001c0001t0011g0004 a0001c0001t0011g0005 a0001c0001t0011g0006 others(2): Show a0001c0001t0011g0004 a0001c0001t0011g0005 a0001c0001t0011g0006 a0001c0001t0011g0008 a0001c0001t0013g0007	5	336	0.0149	-16	c.132 others(33): Show c.132+2898_132+2913delCCTCCCTCCCTCCCTC	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	1/7			chr8	TogoVar
EIF3H_chr8_116637130_116760823	116752783	GGGAGGGA others(9): Show GGGAGGGAGGGAGGGAA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01074.hp1 HG01081.hp1 others(37): Show HG00639.hp2 HG01074.hp1 HG01081.hp1 HG01167.hp2 HG01192.hp2 HG01256.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01884.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02132.hp2 HG02258.hp1 HG02273.hp2 HG02622.hp2 HG02647.hp2 HG02965.hp2 HG02970.hp2 HG03098.hp1 HG03225.hp2 HG03453.hp1 HG03540.hp2 HG03579.hp2 HG06807.hp2 NA18522.hp2 NA18952.hp2 NA18979.hp1 NA18993.hp2 NA18998.hp1 NA19004.hp1 NA19012.hp2 NA19082.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0023	a0001c0001t0003g0012 a0001c0001t0004g0084 a0001c0001t0004g0163 others(37): Show a0001c0001t0003g0012 a0001c0001t0004g0084 a0001c0001t0004g0163 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0006g0086 a0001c0001t0006g0087 a0001c0001t0006g0088 a0001c0001t0006g0089 a0001c0001t0006g0090 a0001c0001t0006g0091 a0001c0001t0006g0092 a0001c0001t0006g0093 a0001c0001t0006g0094 a0001c0001t0006g0095 a0001c0001t0006g0096 a0001c0001t0006g0097 a0001c0001t0006g0098 a0001c0001t0006g0099 a0001c0001t0006g0100 a0001c0001t0023g0164	40	336	0.1191	-16	c.132 others(33): Show c.132+2867_132+2882delTTCCCTCCCTCCCTCC	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	1/7			chr8	TogoVar
EIF3H_chr8_116637130_116760823	116752787	GGGAGGGA others(9): Show GGGAGGGAGGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02809.hp1 HG02896.hp2 others(4): Show HG02109.hp2 HG02809.hp1 HG02896.hp2 HG02897.hp1 HG03139.hp1 HG03225.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0001 a0001c0001t0007g0317 a0001c0001t0007g0318 others(3): Show a0001c0001t0007g0001 a0001c0001t0007g0317 a0001c0001t0007g0318 a0001c0001t0007g0319 a0001c0001t0007g0320 a0001c0001t0007g0321	7	336	0.0208	-16	c.132 others(33): Show c.132+2863_132+2878delTTCCTTCCCTCCCTCC	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	1/7			chr8	TogoVar
EIF4A1_chr17_7567825_7584006	7571834	CTTTTATA others(9): Show CTTTTATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	436	0.0023	-16	c.-10 others(26): Show c.-1007_-992delTTTTATATATATATAT	EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding		990		chr17	TogoVar
EIF4A1_chr17_7567825_7584006	7571837	TTATATAT others(9): Show TTATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG01099.hp1 HG01928.hp2 others(8): Show HG00408.hp2 HG01099.hp1 HG01928.hp2 HG01975.hp2 HG02165.hp1 HG03239.hp1 NA18952.hp2 NA18962.hp2 NA18966.hp1 NA18982.hp1 NA19010.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0021 a0001c0002t0001g0002 a0001c0002t0001g0021	11	436	0.0252	-16	c.-10 others(26): Show c.-1004_-989delTATATATATATATATA	EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding		987		chr17	TogoVar
EIF4A1_chr17_7567825_7584006	7571894	TATATATA others(9): Show TATATATATATATATAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG01074.hp1 HG02004.hp2 others(6): Show HG00438.hp2 HG01074.hp1 HG02004.hp2 HG03471.hp2 NA18960.hp1 NA18962.hp1 NA18965.hp1 NA18985.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0003 a0001c0003t0002 a0001c0003t0004 others(1): Show a0001c0001t0003 a0001c0003t0002 a0001c0003t0004 a0001c0005t0001	a0001c0001t0003g0006 a0001c0003t0002g0003 a0001c0003t0002g0012 others(3): Show a0001c0001t0003g0006 a0001c0003t0002g0003 a0001c0003t0002g0012 a0001c0003t0002g0034 a0001c0003t0004g0012 a0001c0005t0001g0006	9	436	0.0206	-16	c.-94 others(25): Show c.-947_-932delATATATATATATATAA	EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding		930		chr17	TogoVar
EIF4A1_chr17_7567825_7584006	7571896	TATATATA others(9): Show TATATATATATATAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp1 HG02622.hp1 HG03239.hp2 others(1): Show HG02523.hp1 HG02622.hp1 HG03239.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0017	4	436	0.0092	-16	c.-94 others(25): Show c.-945_-930delATATATATATATAAAA	EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding		928		chr17	TogoVar
EIF4E3_chr3_71670414_71730402	71714257	GGAAGGAA others(9): Show GGAAGGAAGGAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01884.hp1 HG01952.hp1 others(24): Show HG00280.hp1 HG01884.hp1 HG01952.hp1 HG02280.hp2 HG02486.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02886.hp1 HG03098.hp1 HG03130.hp2 HG03239.hp2 HG03471.hp1 HG03516.hp2 HG03579.hp1 HG06807.hp2 NA18522.hp2 NA18946.hp1 NA18975.hp1 NA18986.hp2 NA19003.hp2 NA19043.hp2 NA19057.hp1 NA19082.hp1 NA19091.hp1 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0026 a0001c0001t0032	a0001c0001t0001g0017 a0001c0001t0001g0294 a0001c0001t0001g0299 others(22): Show a0001c0001t0001g0017 a0001c0001t0001g0294 a0001c0001t0001g0299 a0001c0001t0001g0320 a0001c0001t0002g0042 a0001c0001t0002g0060 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0018 a0001c0001t0003g0023 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0212 a0001c0001t0003g0313 a0001c0001t0005g0303 a0001c0001t0005g0318 a0001c0001t0008g0069 a0001c0001t0008g0070 a0001c0001t0009g0041 a0001c0001t0014g0065 a0001c0001t0026g0026 a0001c0001t0026g0096 a0001c0001t0032g0364	27	398	0.0678	-16	c.177 others(33): Show c.177-3789_177-3774delTTTCCTTCCTTCCTTC	EIF4E3	ENSG00000163412.13	transcript	ENST00000425534.8	protein_coding	1/6			chr3	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31450844	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	366	0.0027	-16	c.151 others(33): Show c.1513-500_1513-485delGTGTGTGTGTGTGTGT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	10/18			chr22	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31484761	GGCGGAGG others(9): Show GGCGGAGGTTGCGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	366	0.0027	-16	c.96+ others(31): Show c.96+3846_96+3861delTCACCGCAACCTCCGC	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	2/18			chr22	TogoVar
EIF4E_chr4_98874276_98934133	98917121	CACACACA others(9): Show CACACACACACACAAAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	300	0.0033	-16	c.18+ others(33): Show c.18+11958_18+11973delTTTTGTGTGTGTGTGT	EIF4E	ENSG00000151247.13	transcript	ENST00000450253.7	protein_coding	1/6			chr4	TogoVar
EIF4E_chr4_98874276_98934133	98931450	TCTCTCTT others(9): Show TCTCTCTTCCTTCCTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00733.hp1 HG00738.hp1 others(64): Show HG00558.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01169.hp1 HG01346.hp2 HG01496.hp2 HG01884.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02074.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02300.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02723.hp2 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03239.hp1 HG03453.hp1 HG03491.hp1 HG03516.hp1 HG03579.hp2 HG03704.hp2 HG03834.hp2 HG04115.hp2 NA18747.hp1 NA18948.hp2 NA18955.hp2 NA18956.hp2 NA18965.hp2 NA18969.hp2 NA18975.hp1 NA18981.hp1 NA18983.hp2 NA18987.hp2 NA18998.hp2 NA19002.hp1 NA19009.hp2 NA19062.hp2 NA19066.hp2 NA19074.hp2 NA19083.hp2 NA19084.hp2 NA19086.hp1 NA19087.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 a0001c0001t0001 a0001c0001t0005 a0001c0003t0001	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0107 others(62): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0005g0150 a0001c0001t0005g0163 a0001c0003t0001g0161	67	300	0.2233	-16	c.-23 others(27): Show c.-2354_-2339delGAAGGAAGGAAGAGAG	EIF4E	ENSG00000151247.13	transcript	ENST00000450253.7	protein_coding		2318		chr4	TogoVar
EIF4G1_chr3_184309606_184340353	184319451	GTGTGTGT others(9): Show GTGTGTGTGTGTGTGTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00733.hp2 others(65): Show HG00099.hp1 HG00323.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp2 HG01257.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG02027.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp1 HG02572.hp1 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03041.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03831.hp1 HG04115.hp1 HG04184.hp2 HG04204.hp2 NA18522.hp1 NA18906.hp1 NA18940.hp1 NA18941.hp1 NA18944.hp2 NA18946.hp1 NA18974.hp1 NA18977.hp1 NA18980.hp1 NA18985.hp2 NA18986.hp1 NA18988.hp2 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19009.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19062.hp1 NA19063.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0011	a0001c0001 a0001c0003 a0001c0006 others(6): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0011 a0001c0020 a0002c0002 a0009c0022 a0011c0017	a0001c0001t0001 a0001c0003t0001 a0001c0006t0003 others(6): Show a0001c0001t0001 a0001c0003t0001 a0001c0006t0003 a0001c0007t0002 a0001c0011t0001 a0001c0020t0001 a0002c0002t0001 a0009c0022t0001 a0011c0017t0001	a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0016 others(35): Show a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0047 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0201 a0001c0003t0001g0004 a0001c0003t0001g0052 a0001c0003t0001g0164 a0001c0003t0001g0188 a0001c0003t0001g0189 a0001c0003t0001g0190 a0001c0006t0003g0060 a0001c0007t0002g0025 a0001c0011t0001g0050 a0001c0020t0001g0192 a0002c0002t0001g0125 a0009c0022t0001g0015 a0011c0017t0001g0068	68	384	0.1771	-16	c.425 others(31): Show c.425-222_425-207delTTGTGTGTGTGTGTGT	EIF4G1	ENSG00000114867.22	transcript	ENST00000346169.7	protein_coding	6/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
EIF4G3_chr1_20801479_21181897	20943970	TTTTTTGT others(9): Show TTTTTTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01952.hp1 HG01981.hp2 others(2): Show HG01106.hp1 HG01952.hp1 HG01981.hp2 HG02145.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0124 a0001c0001t0001g0210 a0001c0001t0001g0215 others(2): Show a0001c0001t0001g0124 a0001c0001t0001g0210 a0001c0001t0001g0215 a0001c0001t0002g0069 a0001c0001t0004g0221	5	312	0.0160	-16	c.824 others(33): Show c.824-1656_824-1641delCACACACACACAAAAA	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	13/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20943974	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0094 a0001c0002t0001g0094	1	312	0.0032	-16	c.824 others(33): Show c.824-1660_824-1645delCACACACACACACACA	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	13/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21010434	AAAAGAAA others(9): Show AAAAGAAAAAGAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01516.hp2 HG04184.hp2 HG01074.hp2 HG01516.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0273	3	312	0.0096	-16	c.-66 others(33): Show c.-66-7642_-66-7627delCTTTTTCTTTTTCTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	4/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21083037	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(45): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00423.hp1 HG00639.hp2 HG01070.hp2 HG01081.hp2 HG01109.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01256.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01928.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02129.hp2 HG02155.hp2 HG02258.hp1 HG02300.hp1 HG02683.hp1 HG02809.hp2 HG03017.hp2 HG03491.hp1 HG03927.hp1 HG04184.hp1 HG04228.hp2 NA18965.hp2 NA18966.hp1 NA18975.hp2 NA18982.hp1 NA18987.hp2 NA19009.hp1 NA19057.hp2 NA19079.hp2 NA19084.hp2 NA19240.hp1 NA20752.hp1 NA20805.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0012 a0001c0001 a0005c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0005c0012t0002	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(45): Show a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0209 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0013g0033 a0001c0001t0013g0034 a0001c0001t0017g0003 a0001c0001t0018g0073 a0005c0012t0002g0005	48	312	0.1539	-16	c.-19 others(35): Show c.-196+6085_-196+6100delTTTTTTTTTTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	3/36			chr1	TogoVar
EIF4H_chr7_74169356_74202096	74186788	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG01071.hp1 others(36): Show HG00140.hp2 HG00408.hp1 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01123.hp2 HG01257.hp1 HG01361.hp1 HG01516.hp1 HG01517.hp2 HG01934.hp1 HG01975.hp1 HG01981.hp2 HG02074.hp2 HG02083.hp1 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02965.hp1 HG02976.hp1 HG03490.hp1 HG03540.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp2 NA18747.hp1 NA18906.hp1 NA18962.hp2 NA18970.hp1 NA18970.hp2 NA18975.hp2 NA18983.hp2 NA18989.hp1 NA18989.hp2 NA19066.hp1 NA19085.hp1 NA19087.hp2 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0014	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0023 others(25): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0137 a0001c0001t0001g0176 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0284 a0001c0001t0003g0140 a0001c0001t0011g0080 a0001c0001t0014g0025	39	374	0.1043	-16	c.60- others(29): Show c.60-786_60-771delTTTTTTTTTTTTTTTT	EIF4H	ENSG00000106682.16	transcript	ENST00000265753.13	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF5B_chr2_99332389_99406326	99400209	ATTAATCT others(9): Show ATTAATCTTGATCTGTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02630.hp2 HG02717.hp1 HG02896.hp2 others(1): Show HG02630.hp2 HG02717.hp1 HG02896.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0122 a0001c0002t0010g0123 a0001c0002t0010g0124 others(1): Show a0001c0002t0010g0122 a0001c0002t0010g0123 a0001c0002t0010g0124 a0001c0002t0010g0125	4	342	0.0117	-16	c.81 others(25): Show c.815_*830delATCTTGATCTGTTTTA	EIF5B	ENSG00000158417.12	transcript	ENST00000289371.11	protein_coding	24/24	815	INFO_REALIGN_3_PRIME	chr2	TogoVar
EIF5B_chr2_99332389_99406326	99400261	ATTAATCT others(9): Show ATTAATCTTGATCTGTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02818.hp2 HG02896.hp1 HG02897.hp1 others(2): Show HG02818.hp2 HG02896.hp1 HG02897.hp1 HG03471.hp1 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0027 a0001c0003t0009g0028 a0001c0003t0009g0029 others(2): Show a0001c0003t0009g0027 a0001c0003t0009g0028 a0001c0003t0009g0029 a0001c0003t0009g0030 a0001c0003t0009g0031	5	342	0.0146	-16	c.86 others(25): Show c.866_*881delAATCTTGATCTGTTTT	EIF5B	ENSG00000158417.12	transcript	ENST00000289371.11	protein_coding	24/24	866	INFO_REALIGN_3_PRIME	chr2	TogoVar
EIPR1_chr2_3183970_3382818	3237221	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03225.hp2 NA20129.hp2 HG03209.hp1 HG03225.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0017 a0001c0001t0003g0025 a0001c0001t0003g0234 a0001c0001t0001g0017 a0001c0001t0003g0025 a0001c0001t0003g0234	3	250	0.0120	-16	c.416 others(35): Show c.416+20062_416+20077delGTGTGTGTGTGTGTGT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3246819	GGGAGGAA others(9): Show GGGAGGAAGGGAGGGAA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00738.hp1 HG01069.hp2 others(1): Show HG00733.hp1 HG00738.hp1 HG01069.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0068 a0001c0001t0003g0117 a0001c0001t0003g0119 others(1): Show a0001c0001t0003g0068 a0001c0001t0003g0117 a0001c0001t0003g0119 a0001c0001t0003g0120	4	250	0.0160	-16	c.416 others(35): Show c.416+10464_416+10479delTTCCCTCCCTTCCTCC	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
ELAC1_chr18_50963040_50993121	50971886	ATATGTAT others(9): Show ATATGTATATATGTGTG	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0157 a0001c0001t0002g0157	1	384	0.0026	-16	c.-8- others(31): Show c.-8-2509_-8-2494delATGTATATATGTGTGT	ELAC1	ENSG00000141642.9	transcript	ENST00000269466.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
ELAC1_chr18_50963040_50993121	50971910	GTGTATAT others(9): Show GTGTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	384	0.0026	-16	c.-8- others(31): Show c.-8-2485_-8-2470delGTATATATATATATAT	ELAC1	ENSG00000141642.9	transcript	ENST00000269466.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
ELAC2_chr17_12986612_13023027	13022535	AATTTCTT others(9): Show AATTTCTTTCTTTCTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp2 NA19088.hp1 NA19057.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0206 a0001c0001t0001g0003 a0001c0001t0001g0206	2	400	0.0050	-16	c.-46 others(27): Show c.-4604_-4589delAGAGAAAGAAAGAAAT	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding		4509		chr17	TogoVar
ELAC2_chr17_12986612_13023027	13022536	ATTTCTTT others(9): Show ATTTCTTTCTTTCTCTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01517.hp1 HG02004.hp2 others(4): Show HG01257.hp2 HG01517.hp1 HG02004.hp2 HG03130.hp1 HG03486.hp1 NA19060.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0001g0025 a0001c0001t0001g0050 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0025 a0001c0001t0001g0050 a0001c0001t0001g0200 a0001c0001t0001g0217 a0001c0001t0002g0145	7	400	0.0175	-16	c.-46 others(27): Show c.-4605_-4590delGAGAGAAAGAAAGAAA	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding		4510		chr17	TogoVar
ELAC2_chr17_12986612_13023027	13022614	TTCTGTCT others(9): Show TTCTGTCTCTCTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0006 a0003c0006t0006	a0003c0006t0006g0010 a0003c0006t0006g0010	1	400	0.0025	-16	c.-46 others(27): Show c.-4683_-4668delGAGAGAGAGAGACAGA	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding		4588		chr17	TogoVar
ELANE_chr19_847303_861243	857033	AAAATAAA others(9): Show AAAATAAATAAATAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	403	0.0025	-16	c.87 others(25): Show c.870_*885delAAATAAATAAATAAAT	ELANE	ENSG00000197561.7	transcript	ENST00000263621.2	protein_coding		791		chr19	TogoVar
ELAPOR1_chr1_109109115_109211781	109113416	AAGAGAGA others(9): Show AAGAGAGAGAGAGAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG02300.hp2 HG02683.hp2 HG01346.hp1 HG02300.hp2 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0038 a0001c0002 a0001c0038	a0001c0002t0001 a0001c0002t0015 a0001c0038t0015 a0001c0002t0001 a0001c0002t0015 a0001c0038t0015	a0001c0002t0001g0195 a0001c0002t0015g0218 a0001c0038t0015g0214 a0001c0002t0001g0195 a0001c0002t0015g0218 a0001c0038t0015g0214	3	230	0.0130	-16	c.-76 others(25): Show c.-767_-752delAGAGAGAGAGAGAGAG	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding		698		chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109127328	CCTCAGCC others(9): Show CCTCAGCCTCCCAAGTA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02970.hp1 NA20129.hp2 HG00639.hp1 HG02970.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0013 a0002c0028 a0001c0001 a0001c0013 a0002c0028	a0001c0001t0001 a0001c0013t0031 a0002c0028t0001 a0001c0001t0001 a0001c0013t0031 a0002c0028t0001	a0001c0001t0001g0073 a0001c0013t0031g0069 a0002c0028t0001g0072 a0001c0001t0001g0073 a0001c0013t0031g0069 a0002c0028t0001g0072	3	230	0.0130	-16	c.153 others(35): Show c.153+12993_153+13008delCTCAGCCTCCCAAGTA	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	1/21			chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109174413	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02896.hp1 HG02896.hp2 others(2): Show HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 NA18906.hp2	a0002 a0003 a0002 a0003	a0002c0005 a0003c0031 a0002c0005 a0003c0031	a0002c0005t0006 a0002c0005t0016 a0003c0031t0004 a0002c0005t0006 a0002c0005t0016 a0003c0031t0004	a0002c0005t0006g0014 a0002c0005t0006g0016 a0002c0005t0016g0083 others(2): Show a0002c0005t0006g0014 a0002c0005t0006g0016 a0002c0005t0016g0083 a0002c0005t0016g0084 a0003c0031t0004g0088	5	230	0.0217	-16	c.952 others(31): Show c.952+596_952+611delAAAAAAAAAAAAAAAA	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109183344	AAAAACAA others(9): Show AAAAACAAAAAAAAGAG	A A	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG03041.hp1 HG01169.hp2 HG03041.hp1	a0002 a0004 a0002 a0004	a0002c0027 a0004c0011 a0002c0027 a0004c0011	a0002c0027t0030 a0004c0011t0004 a0002c0027t0030 a0004c0011t0004	a0002c0027t0030g0094 a0004c0011t0004g0187 a0002c0027t0030g0094 a0004c0011t0004g0187	2	230	0.0087	-16	c.953 others(33): Show c.953-1699_953-1684delAAACAAAAAAAAGAGA	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAPOR2_chr7_86871906_87064654	86905070	AGAAGGAA others(9): Show AGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0131 a0001c0003t0004g0131	1	196	0.0051	-16	c.255 others(35): Show c.2558+2584_2558+2599delCTTCCTTCCTTCCTTC	ELAPOR2	ENSG00000164659.15	transcript	ENST00000450689.7	protein_coding	18/21			chr7	TogoVar
ELAVL1_chr19_7953573_8010641	7957424	GGAAGGAA others(9): Show GGAAGGAAGAAAGGAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0233 a0001c0002t0016g0233	1	276	0.0036	-16	c.60 others(27): Show c.6043_*6058delTTTCCTTTCTTCCTTC	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		1148		chr19	TogoVar
ELAVL2_chr9_23685104_23831240	23699812	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00621.hp2 others(63): Show HG00280.hp1 HG00408.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG01070.hp2 HG01106.hp1 HG01167.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01981.hp1 HG01981.hp2 HG02074.hp2 HG02258.hp1 HG02523.hp1 HG02683.hp2 HG02738.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 NA18522.hp1 NA18522.hp2 NA18941.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18974.hp1 NA18984.hp2 NA18988.hp2 NA18990.hp2 NA18995.hp2 NA18999.hp2 NA19007.hp2 NA19012.hp1 NA19043.hp2 NA19055.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19068.hp2 NA19078.hp1 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0005c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0012 a0001c0001t0021 a0001c0001t0023 a0001c0002t0002 a0001c0005t0001 a0002c0003t0003 a0005c0006t0001	a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0056 others(63): Show a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0094 a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0170 a0001c0001t0001g0181 a0001c0001t0001g0187 a0001c0001t0001g0255 a0001c0001t0001g0261 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0283 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0294 a0001c0001t0001g0326 a0001c0001t0001g0332 a0001c0001t0001g0335 a0001c0001t0003g0065 a0001c0001t0003g0086 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0144 a0001c0001t0003g0152 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0174 a0001c0001t0003g0182 a0001c0001t0003g0192 a0001c0001t0003g0195 a0001c0001t0003g0226 a0001c0001t0003g0230 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0264 a0001c0001t0003g0304 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0320 a0001c0001t0003g0321 a0001c0001t0003g0322 a0001c0001t0003g0323 a0001c0001t0004g0083 a0001c0001t0007g0269 a0001c0001t0012g0297 a0001c0001t0021g0097 a0001c0001t0023g0352 a0001c0002t0002g0010 a0001c0002t0002g0014 a0001c0002t0002g0045 a0001c0005t0001g0099 a0002c0003t0003g0310 a0002c0003t0003g0311 a0005c0006t0001g0279	66	352	0.1875	-16	c.713 others(33): Show c.713+1551_713+1566delAAAAAAAAAAAAAAAA	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	5/6			chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23774223	AAAAAAAA others(9): Show AAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp2 HG02622.hp2 others(2): Show HG01884.hp1 HG02258.hp2 HG02622.hp2 HG02965.hp1 NA18906.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0010 a0001c0001t0011 a0003c0007t0004 a0001c0001t0010 a0001c0001t0011 a0003c0007t0004	a0001c0001t0010g0006 a0001c0001t0010g0008 a0001c0001t0011g0005 others(2): Show a0001c0001t0010g0006 a0001c0001t0010g0008 a0001c0001t0011g0005 a0001c0001t0011g0007 a0003c0007t0004g0300	5	352	0.0142	-16	c.-15 others(35): Show c.-15-11990_-15-11975delCTTTTTTTTTTTTTTT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	1/6			chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23779979	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18992.hp1 NA19056.hp2 others(2): Show NA18964.hp2 NA18992.hp1 NA19056.hp2 NA19062.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0005g0057 others(2): Show a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0005g0057 a0001c0001t0005g0061 a0001c0001t0005g0262	5	352	0.0142	-16	c.-15 others(35): Show c.-15-17746_-15-17731delTTTTTTTTTTTTTTTT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	1/6			chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23803560	TTCCTCAC others(9): Show TTCCTCACACTAAGCCA	T T	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	352	0.0028	-16	c.-16 others(35): Show c.-16+22230_-16+22245delTGGCTTAGTGTGAGGA	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	1/6			chr9	TogoVar
ELAVL4_chr1_50103920_50208772	50119036	AAAAGAAA others(9): Show AAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01255.hp1 HG02280.hp2 others(4): Show HG00323.hp2 HG01255.hp1 HG02280.hp2 HG03041.hp2 HG03540.hp2 NA19060.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 others(4): Show a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0002g0187 a0001c0002t0001g0190	7	276	0.0254	-16	c.9+9 others(29): Show c.9+9882_9+9897delGAAAGAAAGAAAGAAA	ELAVL4	ENSG00000162374.18	transcript	ENST00000371824.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAVL4_chr1_50103920_50208772	50133599	AAAAGAAA others(9): Show AAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0090 a0001c0002t0013g0090	1	276	0.0036	-16	c.10- others(33): Show c.10-11320_10-11305delAAGAAAGAAAGAAAGA	ELAVL4	ENSG00000162374.18	transcript	ENST00000371824.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAVL4_chr1_50103920_50208772	50192519	GCACACAC others(9): Show GCACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0128 a0001c0001t0010g0128	1	276	0.0036	-16	c.355 others(33): Show c.355-1216_355-1201delACACACACACACACAC	ELAVL4	ENSG00000162374.18	transcript	ENST00000371824.7	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELF1_chr13_40926924_41024316	41016914	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG03225.hp2 NA18949.hp1 others(6): Show HG02071.hp2 HG03225.hp2 NA18949.hp1 NA18989.hp1 NA18993.hp1 NA19058.hp2 NA19060.hp1 NA19072.hp1 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0002 a0001c0001t0001 a0001c0003t0001 a0002c0002t0002	a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 others(6): Show a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0117 a0001c0003t0001g0118 a0002c0002t0002g0086	9	362	0.0249	-16	c.-22 others(35): Show c.-229+2298_-229+2313delTTTTTTTTTTTTTTTT	ELF1	ENSG00000120690.16	transcript	ENST00000239882.7	protein_coding	1/8			chr13	TogoVar
ELF2_chr4_139052265_139182218	139132841	CATATATA others(9): Show CATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02040.hp1 HG02056.hp2 others(14): Show HG00438.hp2 HG02040.hp1 HG02056.hp2 HG02109.hp2 HG02257.hp2 HG02280.hp1 HG02723.hp1 HG02965.hp1 HG03139.hp2 HG03540.hp2 NA18941.hp2 NA18942.hp2 NA18950.hp1 NA18971.hp2 NA19085.hp2 NA19091.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0002c0002t0003 others(1): Show a0001c0001t0002 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004	a0001c0001t0002g0341 a0002c0002t0002g0111 a0002c0002t0002g0112 others(14): Show a0001c0001t0002g0341 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0198 a0002c0002t0002g0205 a0002c0002t0002g0334 a0002c0002t0003g0114 a0002c0002t0004g0110 a0002c0002t0004g0120 a0002c0002t0004g0123	17	342	0.0497	-16	c.72+ others(31): Show c.72+4773_72+4788delATATATATATATATAT	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	3/9			chr4	TogoVar

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