Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DYRK1A_chr21_37361773_37531358	37479617	T T	TGTTTTTG TGTTTTTG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02165.hp2 NA18943.hp1 others(6): Show HG02015.hp1 HG02165.hp2 NA18943.hp1 NA18953.hp2 NA18963.hp2 NA18978.hp1 NA18980.hp2 NA19003.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0004 a0001c0001t0037 a0001c0001t0124 others(3): Show a0001c0001t0004 a0001c0001t0037 a0001c0001t0124 a0001c0001t0125 a0001c0001t0129 a0001c0005t0004	a0001c0001t0004g0218 a0001c0001t0004g0221 a0001c0001t0004g0224 others(6): Show a0001c0001t0004g0218 a0001c0001t0004g0221 a0001c0001t0004g0224 a0001c0001t0037g0131 a0001c0001t0037g0246 a0001c0001t0124g0222 a0001c0001t0125g0225 a0001c0001t0129g0236 a0001c0005t0004g0223	9	340	0.0265	7	c.301 others(24): Show c.301-1021_301-1020insGTTTTTG	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	4/11			chr21	TogoVar
DYRK4_chr12_4557208_4618875	4561462	T T	TTTTTTTC TTTTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00741.hp2 HG01243.hp1 others(12): Show HG00099.hp2 HG00741.hp2 HG01243.hp1 HG01243.hp2 HG02109.hp2 HG02148.hp1 HG02257.hp1 HG02293.hp2 HG02559.hp2 HG02602.hp1 HG02818.hp1 HG03669.hp2 HG03704.hp1 HG04115.hp1 NA18983.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0009 a0001c0012 a0001c0017 a0001c0029 a0003c0020	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0008t0001 a0001c0009t0001 a0001c0012t0001 a0001c0017t0001 a0001c0029t0001 a0003c0020t0001	a0001c0001t0001g0019 a0001c0001t0001g0382 a0001c0001t0001g0383 others(11): Show a0001c0001t0001g0019 a0001c0001t0001g0382 a0001c0001t0001g0383 a0001c0002t0001g0355 a0001c0002t0001g0356 a0001c0003t0001g0354 a0001c0008t0001g0247 a0001c0008t0001g0344 a0001c0008t0001g0346 a0001c0009t0001g0245 a0001c0012t0001g0230 a0001c0017t0001g0228 a0001c0029t0001g0345 a0003c0020t0001g0312	15	412	0.0364	7	c.-78 others(16): Show c.-784_-783insTTTTTTC	DYRK4	ENSG00000010219.14	transcript	ENST00000543431.6	protein_coding		745		chr12	TogoVar
DYSF_chr2_71448561_71691763	71537223	G G	GTTTTGTT GTTTTGTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01175.hp2 HG02280.hp2 others(2): Show HG00642.hp2 HG01175.hp2 HG02280.hp2 HG03540.hp1 NA18522.hp1	a0001 a0012 a0001 a0012	a0001c0003 a0001c0014 a0001c0038 others(1): Show a0001c0003 a0001c0014 a0001c0038 a0012c0065	a0001c0003t0001 a0001c0014t0001 a0001c0038t0001 others(1): Show a0001c0003t0001 a0001c0014t0001 a0001c0038t0001 a0012c0065t0001	a0001c0003t0001g0091 a0001c0003t0001g0119 a0001c0014t0001g0169 others(2): Show a0001c0003t0001g0091 a0001c0003t0001g0119 a0001c0014t0001g0169 a0001c0038t0001g0061 a0012c0065t0001g0002	5	98	0.0510	7	c.139 others(26): Show c.1397+1916_1397+1917insGTTTTTT	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	15/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71448561_71691763	71555062	A A	AGCATGGC AGCATGGC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02109.hp1 HG02965.hp2 others(3): Show HG01255.hp2 HG02109.hp1 HG02965.hp2 HG03017.hp2 HG03490.hp2 NA20129.hp1	a0001 a0019 a0001 a0019	a0001c0004 a0001c0005 a0001c0013 others(1): Show a0001c0004 a0001c0005 a0001c0013 a0019c0033	a0001c0004t0001 a0001c0004t0003 a0001c0005t0001 others(2): Show a0001c0004t0001 a0001c0004t0003 a0001c0005t0001 a0001c0013t0001 a0019c0033t0001	a0001c0004t0001g0149 a0001c0004t0003g0065 a0001c0004t0003g0084 others(3): Show a0001c0004t0001g0149 a0001c0004t0003g0065 a0001c0004t0003g0084 a0001c0005t0001g0056 a0001c0013t0001g0057 a0019c0033t0001g0064	6	190	0.0316	7	c.205 others(24): Show c.2056-902_2056-896dupGCATGGC	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	21/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71537223	G G	GTTTTGTT GTTTTGTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01175.hp1 HG02257.hp1 others(3): Show HG00642.hp1 HG01175.hp1 HG02257.hp1 HG02280.hp1 HG03540.hp2 NA18522.hp2	a0001 a0013 a0001 a0013	a0001c0003 a0001c0004 a0001c0014 others(2): Show a0001c0003 a0001c0004 a0001c0014 a0001c0040 a0013c0068	a0001c0003t0001 a0001c0004t0001 a0001c0014t0002 others(2): Show a0001c0003t0001 a0001c0004t0001 a0001c0014t0002 a0001c0040t0001 a0013c0068t0001	a0001c0003t0001g0014 a0001c0003t0001g0043 a0001c0004t0001g0030 others(3): Show a0001c0003t0001g0014 a0001c0003t0001g0043 a0001c0004t0001g0030 a0001c0014t0002g0175 a0001c0040t0001g0096 a0013c0068t0001g0202	6	106	0.0566	7	c.149 others(26): Show c.1493+1916_1493+1917insGTTTTTT	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	16/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71555062	A A	AGCATGGC AGCATGGC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02109.hp1 HG02965.hp1 others(4): Show HG01255.hp2 HG02109.hp1 HG02965.hp1 HG03017.hp1 HG03130.hp2 HG03490.hp1 NA20129.hp2	a0001 a0020 a0001 a0020	a0001c0004 a0001c0005 a0001c0009 others(2): Show a0001c0004 a0001c0005 a0001c0009 a0001c0074 a0020c0036	a0001c0004t0003 a0001c0005t0001 a0001c0009t0001 others(2): Show a0001c0004t0003 a0001c0005t0001 a0001c0009t0001 a0001c0074t0001 a0020c0036t0001	a0001c0004t0003g0112 a0001c0004t0003g0113 a0001c0004t0003g0114 others(4): Show a0001c0004t0003g0112 a0001c0004t0003g0113 a0001c0004t0003g0114 a0001c0005t0001g0089 a0001c0009t0001g0091 a0001c0074t0001g0094 a0020c0036t0001g0116	7	206	0.0340	7	c.211 others(24): Show c.2110-902_2110-896dupGCATGGC	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	21/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYTN_chr2_206646621_206723396	206673579	C C	CCTAAGAT CCTAAGAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00738.hp2 HG01099.hp2 others(48): Show HG00280.hp2 HG00738.hp2 HG01099.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01517.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG02004.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02148.hp2 HG02258.hp2 HG02273.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp2 HG03471.hp2 HG03516.hp2 HG03579.hp1 HG03834.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA19030.hp2 NA20129.hp2 NA21309.hp2	a0002 a0003 a0006 others(2): Show a0002 a0003 a0006 a0011 a0015	a0002c0002 a0002c0004 a0003c0003 others(3): Show a0002c0002 a0002c0004 a0003c0003 a0006c0008 a0011c0014 a0015c0013	a0002c0002t0001 a0002c0004t0001 a0003c0003t0001 others(3): Show a0002c0002t0001 a0002c0004t0001 a0003c0003t0001 a0006c0008t0001 a0011c0014t0001 a0015c0013t0001	a0002c0002t0001g0016 a0002c0002t0001g0080 a0002c0002t0001g0161 others(43): Show a0002c0002t0001g0016 a0002c0002t0001g0080 a0002c0002t0001g0161 a0002c0002t0001g0226 a0002c0002t0001g0314 a0002c0002t0001g0319 a0002c0002t0001g0322 a0002c0002t0001g0324 a0002c0002t0001g0325 a0002c0002t0001g0327 a0002c0004t0001g0005 a0002c0004t0001g0020 a0002c0004t0001g0087 a0002c0004t0001g0121 a0002c0004t0001g0122 a0002c0004t0001g0145 a0002c0004t0001g0146 a0002c0004t0001g0147 a0002c0004t0001g0148 a0002c0004t0001g0182 a0002c0004t0001g0270 a0002c0004t0001g0271 a0002c0004t0001g0272 a0002c0004t0001g0284 a0003c0003t0001g0001 a0003c0003t0001g0114 a0003c0003t0001g0163 a0003c0003t0001g0172 a0003c0003t0001g0173 a0003c0003t0001g0198 a0003c0003t0001g0208 a0003c0003t0001g0211 a0003c0003t0001g0212 a0003c0003t0001g0213 a0003c0003t0001g0214 a0003c0003t0001g0215 a0003c0003t0001g0216 a0003c0003t0001g0217 a0003c0003t0001g0218 a0003c0003t0001g0307 a0003c0003t0001g0323 a0003c0003t0001g0326 a0006c0008t0001g0007 a0006c0008t0001g0202 a0011c0014t0001g0144 a0015c0013t0001g0343	51	380	0.1342	7	c.981 others(24): Show c.981-7557_981-7551dupATCTTAG	DYTN	ENSG00000232125.5	transcript	ENST00000452335.2	protein_coding	9/11			chr2	TogoVar
DZANK1_chr20_18378367_18472030	18380791	T T	TCTAGAAG TCTAGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01361.hp2 HG02258.hp2 others(7): Show HG01167.hp2 HG01361.hp2 HG02258.hp2 HG02647.hp2 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG03209.hp2 HG03579.hp2 NA18906.hp2	a0001 a0001	a0001c0007 a0001c0015 a0001c0007 a0001c0015	a0001c0007t0004 a0001c0015t0004 a0001c0007t0004 a0001c0015t0004	a0001c0007t0004g0022 a0001c0007t0004g0118 a0001c0007t0004g0201 others(6): Show a0001c0007t0004g0022 a0001c0007t0004g0118 a0001c0007t0004g0201 a0001c0007t0004g0235 a0001c0007t0004g0250 a0001c0007t0004g0257 a0001c0007t0004g0258 a0001c0007t0004g0259 a0001c0015t0004g0260	10	372	0.0269	7	c.36 others(18): Show c.3607_*3608insCTTCTAG	DZANK1	ENSG00000089091.17	transcript	ENST00000699568.1	protein_coding		2575		chr20	TogoVar
DZANK1_chr20_18378367_18472030	18409583	C C	CACACACA CACACACA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02148.hp2 HG02698.hp1 others(11): Show HG00735.hp2 HG02148.hp2 HG02698.hp1 HG02698.hp2 HG02809.hp1 HG02965.hp2 HG03492.hp1 HG03710.hp1 HG03710.hp2 HG04228.hp2 NA18949.hp1 NA19000.hp2 NA19064.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0007t0002 a0001c0001t0002 a0001c0007t0002	a0001c0001t0002g0273 a0001c0001t0002g0284 a0001c0001t0002g0291 others(11): Show a0001c0001t0002g0273 a0001c0001t0002g0284 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0296 a0001c0001t0002g0298 a0001c0001t0002g0307 a0001c0001t0002g0315 a0001c0001t0002g0325 a0001c0001t0002g0334 a0001c0001t0002g0338 a0001c0001t0002g0340 a0001c0007t0002g0229	14	308	0.0455	7	c.150 others(26): Show c.1507+3062_1507+3063insTGTGTGT	DZANK1	ENSG00000089091.17	transcript	ENST00000699568.1	protein_coding	13/20			chr20	TogoVar
DZANK1_chr20_18378367_18472030	18422799	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG00642.hp1 others(71): Show HG00140.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01192.hp1 HG01358.hp1 HG01433.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp2 HG01943.hp2 HG01952.hp2 HG01981.hp1 HG02074.hp1 HG02148.hp2 HG02257.hp2 HG02258.hp1 HG02451.hp2 HG02523.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG03041.hp2 HG03239.hp1 HG03471.hp2 HG03486.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG04115.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18943.hp2 NA18949.hp1 NA18954.hp2 NA18959.hp1 NA18963.hp2 NA18965.hp1 NA18984.hp1 NA18986.hp1 NA18990.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19012.hp1 NA19064.hp1 NA19079.hp1 NA19080.hp2 NA19091.hp2 NA19240.hp1 NA20905.hp2	a0001 a0003 a0008 others(1): Show a0001 a0003 a0008 a0014	a0001c0001 a0001c0007 a0003c0016 others(2): Show a0001c0001 a0001c0007 a0003c0016 a0008c0019 a0014c0021	a0001c0001t0002 a0001c0001t0009 a0001c0001t0011 others(6): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0011 a0001c0007t0002 a0001c0007t0008 a0001c0007t0012 a0003c0016t0002 a0008c0019t0002 a0014c0021t0002	a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0047 others(67): Show a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0262 a0001c0001t0002g0273 a0001c0001t0002g0275 a0001c0001t0002g0277 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0284 a0001c0001t0002g0288 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0326 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0009g0024 a0001c0001t0011g0276 a0001c0007t0002g0011 a0001c0007t0002g0140 a0001c0007t0002g0229 a0001c0007t0002g0230 a0001c0007t0008g0244 a0001c0007t0008g0245 a0001c0007t0012g0112 a0003c0016t0002g0206 a0003c0016t0002g0272 a0008c0019t0002g0304 a0008c0019t0002g0327 a0014c0021t0002g0183	74	235	0.3149	7	c.101 others(26): Show c.1011+4261_1011+4267dupAAAAAAA	DZANK1	ENSG00000089091.17	transcript	ENST00000699568.1	protein_coding	10/20			chr20	TogoVar
DZIP1_chr13_95573202_95649706	95600579	A A	AGATAGAT AGATAGAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00609.hp2 HG01981.hp2 others(7): Show HG00323.hp2 HG00609.hp2 HG01981.hp2 HG03017.hp2 NA18942.hp2 NA18957.hp1 NA18973.hp1 NA18984.hp2 NA18985.hp1 NA19084.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0183 a0001c0001t0001g0235 a0001c0001t0001g0241 others(7): Show a0001c0001t0001g0183 a0001c0001t0001g0235 a0001c0001t0001g0241 a0001c0001t0001g0245 a0001c0001t0001g0260 a0001c0001t0001g0270 a0001c0001t0001g0273 a0001c0001t0001g0279 a0001c0001t0001g0285 a0003c0003t0001g0118	10	380	0.0263	7	c.147 others(26): Show c.1478-1162_1478-1156dupATCTATC	DZIP1	ENSG00000134874.18	transcript	ENST00000376829.7	protein_coding	14/22			chr13	TogoVar
DZIP3_chr3_108584722_108699840	108619325	T T	TGTGTGTG TGTGTGTG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01891.hp1 HG01891.hp2 others(3): Show HG01106.hp1 HG01891.hp1 HG01891.hp2 HG02109.hp1 HG02809.hp2 HG03486.hp2	a0001 a0007 a0001 a0007	a0001c0004 a0007c0014 a0001c0004 a0007c0014	a0001c0004t0004 a0001c0004t0015 a0007c0014t0004 a0001c0004t0004 a0001c0004t0015 a0007c0014t0004	a0001c0004t0004g0013 a0001c0004t0004g0014 a0001c0004t0004g0015 others(3): Show a0001c0004t0004g0013 a0001c0004t0004g0014 a0001c0004t0004g0015 a0001c0004t0004g0016 a0001c0004t0015g0017 a0007c0014t0004g0012	6	315	0.0190	7	c.375 others(24): Show c.375+2668_375+2669insGTGTGTG	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	5/32			chr3	TogoVar
DZIP3_chr3_108584722_108699840	108697439	T T	TAAAAAAA TAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02735.hp2 HG03516.hp2 others(3): Show HG02145.hp2 HG02735.hp2 HG03516.hp2 HG03710.hp2 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0002t0001g0228 others(3): Show a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0002t0001g0228 a0001c0002t0001g0233 a0001c0002t0001g0239 a0001c0002t0001g0274	6	24	0.2500	7	c.40 others(18): Show c.4086_*4087insAAAAAAA	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding		2600		chr3	TogoVar
E2F5_chr8_85172154_85219518	85213542	T T	TAAAAAAA TAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp2 HG01106.hp2 others(22): Show HG00438.hp1 HG00597.hp2 HG01106.hp2 HG01192.hp1 HG01261.hp2 HG01361.hp1 HG02572.hp1 HG02622.hp1 HG02630.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02970.hp2 HG03098.hp2 HG03516.hp2 NA18906.hp1 NA18948.hp1 NA18965.hp2 NA18966.hp2 NA19003.hp1 NA19030.hp1 NA19030.hp2 NA19066.hp1 NA19070.hp2 NA19077.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0001c0001t0001 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0014 a0001c0001t0001g0074 a0001c0001t0001g0085 others(20): Show a0001c0001t0001g0014 a0001c0001t0001g0074 a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0125 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0002t0001g0056 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0154 a0001c0002t0001g0165 a0001c0002t0001g0168 a0002c0003t0001g0045	25	126	0.1984	7	c.932 others(22): Show c.932-198_932-192dupAAAAAAA	E2F5	ENSG00000133740.11	transcript	ENST00000416274.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
EAF2_chr3_121830209_121891526	121845459	A A	AAAAAAAG AAAAAAAG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02738.hp1 HG03688.hp1 others(3): Show HG01256.hp2 HG02738.hp1 HG03688.hp1 HG04184.hp1 NA18997.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 others(3): Show a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0093 a0001c0001t0001g0108	6	137	0.0438	7	c.201 others(22): Show c.201+915_201+916insAAAGAAA	EAF2	ENSG00000145088.9	transcript	ENST00000273668.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
EBF1_chr5_158690920_159104916	158894396	A A	AAAAAAAT AAAAAAAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp2 HG00639.hp1 others(51): Show HG00140.hp2 HG00544.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01978.hp1 HG02015.hp1 HG02040.hp1 HG02055.hp1 HG02129.hp1 HG02257.hp1 HG02273.hp2 HG02293.hp1 HG02523.hp2 HG02622.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03239.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03516.hp1 HG03579.hp2 NA18522.hp1 NA18942.hp1 NA18944.hp2 NA18949.hp1 NA18963.hp1 NA18966.hp2 NA18969.hp2 NA19009.hp2 NA19030.hp2 NA19068.hp1 NA19079.hp2 NA19084.hp1 NA19085.hp1 NA19090.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0032 a0001c0001t0052 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0002t0012 a0001c0002t0013 a0001c0002t0018 a0001c0002t0026 a0001c0002t0034 a0001c0002t0035 a0001c0002t0038 a0001c0002t0041 a0001c0002t0048 a0001c0002t0059 a0001c0002t0060 a0001c0002t0061 a0001c0002t0062 a0001c0002t0076 a0001c0002t0083 a0001c0002t0084 a0001c0002t0089 a0001c0004t0004	a0001c0001t0001g0142 a0001c0001t0002g0150 a0001c0001t0006g0019 others(51): Show a0001c0001t0001g0142 a0001c0001t0002g0150 a0001c0001t0006g0019 a0001c0001t0007g0066 a0001c0001t0011g0120 a0001c0001t0032g0006 a0001c0001t0052g0045 a0001c0002t0001g0109 a0001c0002t0001g0131 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0141 a0001c0002t0001g0158 a0001c0002t0001g0161 a0001c0002t0001g0170 a0001c0002t0002g0089 a0001c0002t0002g0173 a0001c0002t0003g0090 a0001c0002t0003g0093 a0001c0002t0003g0130 a0001c0002t0003g0151 a0001c0002t0005g0115 a0001c0002t0005g0122 a0001c0002t0005g0128 a0001c0002t0005g0143 a0001c0002t0005g0165 a0001c0002t0006g0015 a0001c0002t0006g0017 a0001c0002t0006g0020 a0001c0002t0006g0025 a0001c0002t0007g0059 a0001c0002t0007g0076 a0001c0002t0007g0083 a0001c0002t0007g0084 a0001c0002t0009g0079 a0001c0002t0012g0023 a0001c0002t0013g0001 a0001c0002t0013g0002 a0001c0002t0018g0086 a0001c0002t0026g0103 a0001c0002t0034g0008 a0001c0002t0035g0016 a0001c0002t0038g0014 a0001c0002t0041g0028 a0001c0002t0048g0032 a0001c0002t0059g0052 a0001c0002t0060g0053 a0001c0002t0061g0055 a0001c0002t0062g0054 a0001c0002t0076g0087 a0001c0002t0083g0118 a0001c0002t0084g0111 a0001c0002t0089g0187 a0001c0004t0004g0171	54	196	0.2755	7	c.555 others(26): Show c.555-54287_555-54286insATTTTTT	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
EBF1_chr5_158690920_159104916	158940763	G G	GCCCCCCC GCCCCCCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01167.hp1 HG01884.hp2 others(8): Show HG00280.hp2 HG01167.hp1 HG01884.hp2 HG01934.hp2 HG02055.hp1 HG02129.hp2 HG02257.hp1 HG03139.hp2 NA18954.hp2 NA19079.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0032 a0001c0001t0040 a0001c0001t0078 a0001c0002t0001 a0001c0002t0006 a0001c0002t0007 a0002c0003t0080	a0001c0001t0001g0107 a0001c0001t0002g0168 a0001c0001t0005g0159 others(8): Show a0001c0001t0001g0107 a0001c0001t0002g0168 a0001c0001t0005g0159 a0001c0001t0006g0019 a0001c0001t0032g0006 a0001c0001t0040g0026 a0001c0001t0078g0152 a0001c0002t0001g0170 a0001c0002t0006g0020 a0001c0002t0007g0076 a0002c0003t0080g0179	11	57	0.1930	7	c.555 others(28): Show c.555-100660_555-100654dupGGGGGGG	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
EBF2_chr8_25836725_26050413	25838165	C C	CAAAAAAA CAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00597.hp1 others(35): Show HG00140.hp1 HG00323.hp1 HG00597.hp1 HG00735.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01109.hp2 HG01123.hp2 HG01255.hp1 HG01256.hp1 HG01515.hp1 HG01978.hp1 HG02015.hp2 HG02055.hp1 HG02056.hp2 HG02129.hp1 HG02165.hp2 HG02602.hp2 HG03139.hp2 HG03490.hp1 HG03654.hp1 HG03704.hp1 HG04115.hp1 HG04204.hp2 NA18906.hp1 NA18947.hp2 NA18950.hp2 NA18964.hp2 NA19063.hp1 NA19065.hp1 NA19068.hp2 NA19070.hp2 NA19087.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0021 others(3): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0021 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030	a0001c0001t0002g0012 a0001c0001t0002g0016 a0001c0001t0002g0021 others(35): Show a0001c0001t0002g0012 a0001c0001t0002g0016 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0052 a0001c0001t0002g0056 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0066 a0001c0001t0002g0076 a0001c0001t0002g0081 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0111 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0122 a0001c0001t0002g0125 a0001c0001t0002g0137 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0006g0163 a0001c0001t0006g0181 a0001c0001t0006g0182 a0001c0001t0006g0183 a0001c0001t0006g0190 a0001c0001t0006g0191 a0001c0001t0006g0196 a0001c0001t0006g0203 a0001c0001t0006g0214 a0001c0001t0021g0020 a0001c0001t0028g0113 a0001c0001t0029g0144 a0001c0001t0030g0116	38	145	0.2621	7	c.64 others(18): Show c.6443_*6444insTTTTTTT	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding		3559		chr8	TogoVar
EBF2_chr8_25836725_26050413	25838189	C C	CAAAAAAA CAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG03492.hp1 NA19003.hp2 HG00621.hp1 HG03492.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0062 a0001c0001t0002g0143 a0001c0001t0004g0031 a0001c0001t0002g0062 a0001c0001t0002g0143 a0001c0001t0004g0031	3	160	0.0188	7	c.64 others(18): Show c.6419_*6420insTTTTTTT	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding		3535		chr8	TogoVar
EBF2_chr8_25836725_26050413	25986001	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00738.hp2 HG01070.hp2 others(7): Show HG00323.hp1 HG00738.hp2 HG01070.hp2 HG01081.hp1 HG01109.hp2 HG01255.hp2 HG01884.hp1 HG01934.hp1 HG02572.hp2 HG02717.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0002t0001 a0001c0002t0003 a0002c0003t0005	a0001c0001t0001g0032 a0001c0001t0002g0111 a0001c0001t0003g0180 others(7): Show a0001c0001t0001g0032 a0001c0001t0002g0111 a0001c0001t0003g0180 a0001c0001t0006g0163 a0001c0001t0006g0196 a0001c0002t0001g0073 a0001c0002t0001g0112 a0001c0002t0001g0149 a0001c0002t0003g0195 a0002c0003t0005g0145	10	11	0.9091	7	c.551 others(26): Show c.551+47077_551+47083dupTTTTTTT	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EBF2_chr8_25836725_26050413	26005320	T T	TATATATA TATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03486.hp2 NA21309.hp1 HG02280.hp1 HG03486.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0005 a0001c0002 a0001c0004 a0001c0005	a0001c0002t0011 a0001c0004t0008 a0001c0005t0008 a0001c0002t0011 a0001c0004t0008 a0001c0005t0008	a0001c0002t0011g0219 a0001c0004t0008g0154 a0001c0005t0008g0155 a0001c0002t0011g0219 a0001c0004t0008g0154 a0001c0005t0008g0155	3	168	0.0179	7	c.551 others(26): Show c.551+27758_551+27764dupTATATAT	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EBF2_chr8_25836725_26050413	26005346	T T	TTATATAA TTATATAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA19030.hp1 HG03130.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0001 a0001c0001t0002 a0001c0005t0001	a0001c0001t0002g0033 a0001c0005t0001g0034 a0001c0001t0002g0033 a0001c0005t0001g0034	2	218	0.0092	7	c.551 others(26): Show c.551+27738_551+27739insTTATATA	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EBF2_chr8_25836725_26050413	26005545	T T	TATATATA TATATATA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18970.hp2 NA18946.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0093 a0001c0002t0001g0094 a0001c0001t0001g0093 a0001c0002t0001g0094	2	218	0.0092	7	c.551 others(26): Show c.551+27533_551+27539dupTATATAT	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EBF2_chr8_25836725_26050413	26032480	A A	AAGTTAAT AAGTTAAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00544.hp2 others(49): Show HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG01070.hp1 HG01071.hp1 HG01106.hp2 HG01346.hp2 HG01952.hp1 HG02004.hp1 HG02015.hp1 HG02056.hp1 HG02074.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02895.hp2 HG02922.hp1 HG02970.hp1 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03710.hp2 NA18747.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18953.hp1 NA18953.hp2 NA18964.hp1 NA18970.hp1 NA18998.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19063.hp1 NA19068.hp2 NA19082.hp2 NA20129.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0020 a0001c0001t0042 a0001c0002t0001 a0001c0002t0015 a0001c0002t0023 a0001c0004t0001 a0001c0005t0001 a0002c0003t0001 a0002c0003t0005	a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0039 others(49): Show a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0048 a0001c0001t0001g0107 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0033 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0002g0056 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0066 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0004g0029 a0001c0001t0004g0031 a0001c0001t0004g0041 a0001c0001t0004g0044 a0001c0001t0004g0059 a0001c0001t0004g0070 a0001c0001t0020g0047 a0001c0001t0042g0220 a0001c0002t0001g0030 a0001c0002t0001g0036 a0001c0002t0001g0038 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0053 a0001c0002t0001g0055 a0001c0002t0001g0058 a0001c0002t0001g0065 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0123 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0015g0035 a0001c0002t0015g0040 a0001c0002t0023g0057 a0001c0004t0001g0050 a0001c0005t0001g0034 a0002c0003t0001g0051 a0002c0003t0005g0026 a0002c0003t0005g0054 a0002c0003t0005g0063 a0002c0003t0005g0064	52	218	0.2385	7	c.551 others(22): Show c.551+604_551+605insATTAACT	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EBF3_chr10_129830233_129969274	129878661	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02145.hp1 HG02572.hp1 others(3): Show HG01433.hp1 HG02145.hp1 HG02572.hp1 HG03130.hp2 HG03209.hp1 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0021 a0001c0001t0042	a0001c0001t0001g0257 a0001c0001t0002g0076 a0001c0001t0006g0002 others(3): Show a0001c0001t0001g0257 a0001c0001t0002g0076 a0001c0001t0006g0002 a0001c0001t0008g0047 a0001c0001t0021g0156 a0001c0001t0042g0077	6	235	0.0255	7	c.555 others(22): Show c.555-819_555-813dupTTTTTTT	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16			chr10	TogoVar
EBF3_chr10_129830233_129969274	129878823	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01175.hp1 HG02148.hp1 others(10): Show HG00280.hp2 HG01175.hp1 HG02148.hp1 HG02148.hp2 HG02486.hp1 HG02630.hp1 HG03516.hp1 NA18964.hp1 NA19007.hp2 NA19012.hp1 NA19054.hp2 NA19090.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0050	a0001c0001t0001g0049 a0001c0001t0001g0155 a0001c0001t0001g0264 others(10): Show a0001c0001t0001g0049 a0001c0001t0001g0155 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0002g0065 a0001c0001t0002g0092 a0001c0001t0002g0119 a0001c0001t0002g0145 a0001c0001t0002g0223 a0001c0001t0003g0032 a0001c0001t0003g0225 a0001c0001t0050g0322	13	110	0.1182	7	c.555 others(22): Show c.555-981_555-975dupTTTTTTT	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16			chr10	TogoVar
EBF3_chr10_129830233_129969274	129917651	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01258.hp1 HG01952.hp2 others(5): Show HG00597.hp2 HG01258.hp1 HG01952.hp2 HG01975.hp1 HG02165.hp1 HG02257.hp1 NA18962.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0012 a0001c0001t0045 others(2): Show a0001c0001t0002 a0001c0001t0012 a0001c0001t0045 a0001c0002t0002 a0001c0002t0043	a0001c0001t0002g0006 a0001c0001t0002g0041 a0001c0001t0002g0096 others(5): Show a0001c0001t0002g0006 a0001c0001t0002g0041 a0001c0001t0002g0096 a0001c0001t0002g0103 a0001c0001t0012g0117 a0001c0001t0045g0234 a0001c0002t0002g0298 a0001c0002t0043g0290	8	56	0.1429	7	c.554 others(26): Show c.554+39600_554+39606dupTTTTTTT	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16			chr10	TogoVar
EBF4_chr20_2687780_2765108	2700720	T T	TACCCCCA TACCCCCA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00735.hp1 HG00741.hp2 others(24): Show HG00140.hp1 HG00735.hp1 HG00741.hp2 HG01074.hp2 HG01106.hp2 HG01109.hp1 HG01258.hp1 HG01361.hp2 HG01515.hp2 HG01934.hp2 HG01981.hp2 HG01993.hp1 HG02145.hp1 HG02148.hp1 HG02300.hp2 HG02630.hp2 HG02717.hp2 HG02965.hp2 HG03041.hp1 HG03225.hp1 HG03490.hp2 HG03516.hp2 HG06807.hp1 NA18906.hp2 NA19240.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0003t0001 a0001c0003t0007 a0001c0004t0001 a0001c0004t0003 a0001c0004t0014 a0001c0007t0001	a0001c0001t0001g0328 a0001c0001t0001g0363 a0001c0001t0002g0005 others(23): Show a0001c0001t0001g0328 a0001c0001t0001g0363 a0001c0001t0002g0005 a0001c0001t0002g0023 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0004g0216 a0001c0001t0004g0217 a0001c0001t0004g0218 a0001c0001t0004g0222 a0001c0002t0001g0287 a0001c0002t0001g0356 a0001c0002t0001g0362 a0001c0003t0001g0172 a0001c0003t0001g0364 a0001c0003t0007g0361 a0001c0004t0001g0018 a0001c0004t0003g0173 a0001c0004t0014g0312 a0001c0007t0001g0017 a0001c0007t0001g0150	27	386	0.0699	7	c.138 others(24): Show c.138-4857_138-4856insACCCCCA	EBF4	ENSG00000088881.22	transcript	ENST00000609451.6	protein_coding	1/16			chr20	TogoVar
EBF4_chr20_2687780_2765108	2764619	C C	CTTTTCTT CTTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00438.hp2 HG00544.hp2 others(56): Show HG00099.hp2 HG00438.hp2 HG00544.hp2 HG00738.hp2 HG01074.hp2 HG01109.hp2 HG01258.hp1 HG01981.hp2 HG01993.hp1 HG02040.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp2 HG02148.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02622.hp1 HG02698.hp2 HG02717.hp1 HG02809.hp2 HG02818.hp2 HG02976.hp2 HG03130.hp2 HG03486.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03831.hp2 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18941.hp1 NA18946.hp2 NA18947.hp1 NA18959.hp1 NA18959.hp2 NA18962.hp2 NA18965.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18979.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19005.hp1 NA19007.hp1 NA19066.hp1 NA19066.hp2 NA19088.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0002c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0012 a0001c0004t0002 a0001c0005t0001 a0002c0011t0002	a0001c0001t0001g0307 a0001c0001t0001g0311 a0001c0001t0001g0326 others(55): Show a0001c0001t0001g0307 a0001c0001t0001g0311 a0001c0001t0001g0326 a0001c0001t0001g0328 a0001c0001t0001g0335 a0001c0001t0001g0352 a0001c0001t0001g0360 a0001c0001t0002g0007 a0001c0001t0002g0048 a0001c0001t0002g0056 a0001c0001t0002g0066 a0001c0001t0002g0081 a0001c0001t0002g0107 a0001c0001t0002g0123 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0366 a0001c0001t0003g0028 a0001c0001t0003g0201 a0001c0001t0003g0203 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0004g0216 a0001c0001t0004g0217 a0001c0001t0004g0218 a0001c0001t0004g0222 a0001c0002t0001g0263 a0001c0002t0002g0037 a0001c0002t0002g0045 a0001c0003t0001g0015 a0001c0003t0001g0247 a0001c0003t0001g0255 a0001c0003t0001g0272 a0001c0003t0001g0273 a0001c0003t0001g0274 a0001c0003t0001g0275 a0001c0003t0001g0276 a0001c0003t0001g0277 a0001c0003t0001g0278 a0001c0003t0001g0304 a0001c0003t0001g0309 a0001c0003t0001g0320 a0001c0003t0001g0333 a0001c0003t0001g0341 a0001c0003t0001g0345 a0001c0003t0002g0065 a0001c0003t0002g0130 a0001c0003t0002g0139 a0001c0003t0003g0166 a0001c0003t0003g0171 a0001c0003t0012g0168 a0001c0004t0002g0054 a0001c0004t0002g0358 a0001c0005t0001g0158 a0001c0005t0001g0159 a0001c0005t0001g0283 a0002c0011t0002g0038	59	178	0.3315	7	c.53 others(18): Show c.5357_*5358insTTTTCTT	EBF4	ENSG00000088881.22	transcript	ENST00000609451.6	protein_coding		4512		chr20	TogoVar
EBI3_chr19_4224523_4242528	4227017	C C	CTTTTTTT CTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG00609.hp2 others(45): Show HG00408.hp2 HG00558.hp1 HG00609.hp2 HG00621.hp2 HG00738.hp2 HG01175.hp2 HG02083.hp2 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02257.hp1 HG02630.hp1 HG02683.hp1 HG02698.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG03139.hp1 HG03209.hp2 HG03453.hp1 HG03516.hp1 HG03831.hp2 HG03927.hp1 HG04199.hp2 NA18941.hp1 NA18943.hp1 NA18952.hp2 NA18953.hp1 NA18956.hp1 NA18961.hp1 NA18973.hp1 NA18981.hp2 NA18991.hp1 NA18991.hp2 NA18997.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19080.hp1 NA19080.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA20129.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0003t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(38): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0046 a0001c0001t0001g0067 a0001c0001t0001g0083 a0001c0001t0001g0141 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0189 a0001c0001t0001g0208 a0001c0001t0003g0224 a0001c0003t0001g0053 a0001c0003t0001g0216 a0001c0003t0002g0215 a0002c0002t0001g0027 a0002c0002t0001g0158 a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0011 a0002c0002t0002g0015 a0002c0002t0002g0021 a0002c0002t0002g0042 a0002c0002t0002g0066 a0002c0002t0002g0091 a0002c0002t0002g0094 a0002c0002t0002g0106 a0002c0002t0002g0108 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0120 a0002c0002t0002g0203 a0002c0002t0004g0003	48	208	0.2308	7	c.-25 others(18): Show c.-2534_-2533insTTTTTTT	EBI3	ENSG00000105246.6	transcript	ENST00000221847.6	protein_coding		2505		chr19	TogoVar
EBI3_chr19_4224523_4242528	4236518	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02970.hp2 HG03492.hp2 others(5): Show HG00673.hp2 HG02970.hp2 HG03492.hp2 HG03927.hp1 NA18941.hp1 NA18950.hp1 NA19077.hp2 NA19084.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0092 a0002c0002t0002g0105 a0002c0002t0002g0112 others(5): Show a0002c0002t0002g0092 a0002c0002t0002g0105 a0002c0002t0002g0112 a0002c0002t0002g0114 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0129 a0002c0002t0002g0153	8	13	0.6154	7	c.538 others(22): Show c.538-399_538-393dupAAAAAAA	EBI3	ENSG00000105246.6	transcript	ENST00000221847.6	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
ECD_chr10_73128668_73173008	73159642	A A	ATTTTTTT ATTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00438.hp1 others(52): Show HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00673.hp2 HG00733.hp1 HG01081.hp2 HG01261.hp2 HG02040.hp2 HG02071.hp1 HG02083.hp1 HG02083.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02523.hp2 HG02602.hp1 HG02698.hp2 HG02896.hp2 HG03098.hp1 HG03491.hp2 HG03688.hp2 HG03704.hp1 HG04228.hp2 HG06807.hp1 NA18747.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18949.hp2 NA18952.hp2 NA18953.hp2 NA18963.hp2 NA18966.hp1 NA18970.hp1 NA18971.hp1 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA18984.hp2 NA18986.hp1 NA18992.hp1 NA18993.hp2 NA18998.hp1 NA18999.hp2 NA19002.hp2 NA19009.hp1 NA19055.hp2 NA19057.hp1 NA19065.hp1 NA19077.hp1 NA19078.hp1 NA19082.hp2 NA19085.hp1 NA20129.hp2	a0002 a0003 a0005 others(1): Show a0002 a0003 a0005 a0006	a0002c0002 a0002c0003 a0002c0008 others(3): Show a0002c0002 a0002c0003 a0002c0008 a0003c0004 a0005c0009 a0006c0015	a0002c0002t0002 a0002c0003t0002 a0002c0003t0004 others(4): Show a0002c0002t0002 a0002c0003t0002 a0002c0003t0004 a0002c0008t0002 a0003c0004t0003 a0005c0009t0002 a0006c0015t0002	a0002c0002t0002g0009 a0002c0002t0002g0013 a0002c0002t0002g0015 others(43): Show a0002c0002t0002g0009 a0002c0002t0002g0013 a0002c0002t0002g0015 a0002c0002t0002g0019 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0049 a0002c0002t0002g0056 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0067 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0074 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0107 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0003t0002g0008 a0002c0003t0002g0018 a0002c0003t0002g0057 a0002c0003t0002g0058 a0002c0003t0002g0059 a0002c0003t0002g0060 a0002c0003t0002g0063 a0002c0003t0002g0064 a0002c0003t0002g0065 a0002c0003t0002g0066 a0002c0003t0002g0072 a0002c0003t0002g0073 a0002c0003t0002g0075 a0002c0003t0002g0078 a0002c0003t0002g0086 a0002c0003t0002g0089 a0002c0003t0002g0090 a0002c0003t0004g0012 a0002c0003t0004g0035 a0002c0003t0004g0036 a0002c0008t0002g0069 a0003c0004t0003g0103 a0003c0004t0003g0105 a0005c0009t0002g0068 a0006c0015t0002g0088	55	215	0.2558	7	c.323 others(22): Show c.323+785_323+791dupAAAAAAA	ECD	ENSG00000122882.11	transcript	ENST00000372979.9	protein_coding	3/13			chr10	TogoVar
ECHDC1_chr6_127283712_127348609	127307648	G G	GAAAAAAA GAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00438.hp1 others(84): Show HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00673.hp2 HG01099.hp2 HG01123.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp1 HG01928.hp1 HG01943.hp2 HG01975.hp1 HG02004.hp1 HG02055.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02615.hp2 HG02896.hp2 HG02976.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03834.hp1 HG03942.hp1 HG06807.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp2 NA18945.hp1 NA18946.hp2 NA18948.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18959.hp2 NA18962.hp1 NA18963.hp1 NA18965.hp2 NA18972.hp2 NA18973.hp1 NA18982.hp2 NA18989.hp2 NA18991.hp1 NA18993.hp2 NA18995.hp1 NA18998.hp2 NA19007.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp2 NA19057.hp1 NA19059.hp1 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19068.hp2 NA19072.hp1 NA19074.hp1 NA19076.hp1 NA19078.hp1 NA19079.hp1 NA19081.hp1 NA19083.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19089.hp1 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(58): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0181 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0004g0008 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0005g0024 a0001c0001t0005g0134 a0001c0001t0005g0136 a0001c0001t0007g0165 a0001c0001t0007g0166 a0001c0001t0008g0209 a0001c0001t0008g0210	87	185	0.4703	7	c.497 others(24): Show c.497+7161_497+7167dupTTTTTTT	ECHDC1	ENSG00000093144.19	transcript	ENST00000454859.8	protein_coding	5/5			chr6	TogoVar
ECI1_chr16_2234402_2256587	2249876	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01169.hp2 HG01433.hp2 others(4): Show HG00673.hp1 HG01169.hp2 HG01433.hp2 HG01934.hp1 HG01981.hp2 HG03942.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0093 a0001c0001t0001g0174 a0001c0001t0001g0175 others(3): Show a0001c0001t0001g0093 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0002g0042	7	153	0.0458	7	c.166 others(24): Show c.166+1433_166+1439dupTTTTTTT	ECI1	ENSG00000167969.13	transcript	ENST00000301729.9	protein_coding	2/6			chr16	TogoVar
ECM2_chr9_92490315_92540990	92533322	A A	ATATATAT ATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA18955.hp2 NA18974.hp2 others(1): Show HG03471.hp1 NA18955.hp2 NA18974.hp2 NA18979.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0017 a0001c0002t0002g0039 a0001c0002t0002g0133 a0001c0002t0002g0017 a0001c0002t0002g0039 a0001c0002t0002g0133	4	366	0.0109	7	c.-28 others(24): Show c.-28+2610_-28+2611insATATATA	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECRG4_chr2_106060688_106083155	106067059	C C	CGGGGGGG CGGGGGGG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00738.hp1 HG00741.hp1 others(18): Show HG00408.hp2 HG00738.hp1 HG00741.hp1 HG01123.hp1 HG01168.hp1 HG01261.hp2 HG02027.hp1 HG02559.hp1 HG02717.hp2 HG03041.hp1 HG03130.hp2 HG03492.hp2 HG03654.hp1 HG03688.hp2 NA18951.hp2 NA18955.hp1 NA18980.hp2 NA18989.hp1 NA19009.hp1 NA19054.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0001c0001t0001 a0001c0001t0002 a0001c0005t0001	a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0176 others(14): Show a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0002g0044 a0001c0005t0001g0043 a0001c0005t0001g0174 a0001c0005t0001g0175	21	145	0.1448	7	c.79+ others(22): Show c.79+1226_79+1232dupGGGGGGG	ECRG4	ENSG00000119147.10	transcript	ENST00000238044.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
ECRG4_chr2_106060688_106083155	106071322	T T	TAAAAAAA TAAAAAAA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG04199.hp2 NA18970.hp1 others(5): Show HG02523.hp1 HG04199.hp2 NA18970.hp1 NA18984.hp1 NA18991.hp1 NA18998.hp1 NA18998.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0157 a0001c0001t0001g0270 others(3): Show a0001c0001t0001g0027 a0001c0001t0001g0157 a0001c0001t0001g0270 a0001c0001t0001g0275 a0001c0001t0001g0290 a0001c0001t0001g0294	8	40	0.2000	7	c.80- others(20): Show c.80-498_80-492dupAAAAAAA	ECRG4	ENSG00000119147.10	transcript	ENST00000238044.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
ECT2L_chr6_138791087_138909070	138806511	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG00639.hp1 others(19): Show HG00438.hp2 HG00609.hp1 HG00639.hp1 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01255.hp2 HG01978.hp2 HG02015.hp2 HG02027.hp2 HG02486.hp1 HG02717.hp2 HG03209.hp1 HG03540.hp1 HG03927.hp2 NA18967.hp1 NA18967.hp2 NA18980.hp1 NA19000.hp1 NA19009.hp2 NA19067.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0016 a0001c0002t0002 a0001c0002t0003 a0001c0006t0028	a0001c0001t0001g0041 a0001c0001t0001g0109 a0001c0001t0001g0110 others(19): Show a0001c0001t0001g0041 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0154 a0001c0001t0003g0019 a0001c0001t0004g0157 a0001c0001t0004g0234 a0001c0001t0005g0115 a0001c0001t0006g0251 a0001c0001t0007g0233 a0001c0001t0009g0108 a0001c0001t0016g0211 a0001c0002t0002g0150 a0001c0002t0003g0232 a0001c0002t0003g0235 a0001c0002t0003g0246 a0001c0006t0028g0107	22	39	0.5641	7	c.-24 others(26): Show c.-243-6314_-243-6308dupTTTTTTT	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
ECT2L_chr6_138791087_138909070	138890492	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01261.hp1 HG01346.hp2 others(20): Show HG01257.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01515.hp1 HG02027.hp2 HG02602.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02896.hp2 HG03471.hp1 HG03490.hp1 HG03491.hp1 HG04115.hp2 HG04184.hp2 HG04228.hp2 NA18943.hp2 NA18960.hp1 NA18967.hp2 NA18969.hp1 NA19065.hp1 NA19088.hp2	a0001 a0002 a0015 a0001 a0002 a0015	a0001c0001 a0002c0003 a0015c0020 a0001c0001 a0002c0003 a0015c0020	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0026 a0002c0003t0004 a0015c0020t0012	a0001c0001t0001g0024 a0001c0001t0001g0038 a0001c0001t0001g0042 others(20): Show a0001c0001t0001g0024 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0053 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0074 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0097 a0001c0001t0001g0105 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0169 a0001c0001t0001g0175 a0001c0001t0001g0253 a0001c0001t0001g0272 a0001c0001t0004g0096 a0001c0001t0006g0224 a0001c0001t0006g0254 a0001c0001t0026g0039 a0002c0003t0004g0242 a0015c0020t0012g0218	23	37	0.6216	7	c.241 others(26): Show c.2414+1483_2414+1489dupTTTTTTT	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
EDARADD_chr1_236389286_236489930	236405777	C C	CTTTTCTT CTTTTCTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01496.hp1 HG01978.hp1 others(7): Show HG00642.hp1 HG01496.hp1 HG01978.hp1 HG03239.hp2 HG03710.hp2 HG03834.hp1 NA18941.hp1 NA18948.hp2 NA18973.hp2 NA18989.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0003t0003 a0002c0002t0003	a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0147 others(7): Show a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0147 a0001c0001t0002g0132 a0001c0001t0010g0163 a0001c0001t0010g0164 a0001c0001t0010g0165 a0001c0003t0003g0026 a0002c0002t0003g0252 a0002c0002t0003g0253	10	275	0.0364	7	c.62- others(22): Show c.62-3436_62-3435insTCTTTTT	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236447224	C C	CTTTCTTT CTTTCTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02622.hp2 HG03209.hp2 others(4): Show HG01255.hp1 HG02622.hp2 HG03209.hp2 HG03710.hp2 HG04184.hp1 HG04184.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0003t0004 a0002c0002t0001	a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0157 others(4): Show a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0157 a0001c0001t0003g0177 a0001c0001t0010g0165 a0001c0003t0004g0028 a0002c0002t0001g0282	7	259	0.0270	7	c.219 others(26): Show c.219+19774_219+19775insTTTCTTT	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	4/5			chr1	TogoVar
EDARADD_chr1_236389286_236489930	236447233	C C	CTTTCTTT CTTTCTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp1 NA19240.hp2 HG01891.hp1 HG02258.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0004 a0002c0002t0008 a0001c0001t0002 a0002c0002t0004 a0002c0002t0008	a0001c0001t0002g0212 a0002c0002t0004g0243 a0002c0002t0008g0287 a0001c0001t0002g0212 a0002c0002t0004g0243 a0002c0002t0008g0287	3	271	0.0111	7	c.219 others(26): Show c.219+19783_219+19784insTTTCTTT	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	4/5			chr1	TogoVar
EDA_chrX_69611113_70044472	69635566	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01167.hp1 HG01346.hp1 others(12): Show HG00621.hp1 HG01167.hp1 HG01346.hp1 HG02135.hp1 HG02145.hp1 HG02559.hp1 HG02559.hp2 HG02976.hp2 HG03041.hp1 HG03654.hp1 HG04184.hp1 NA18961.hp1 NA19060.hp1 NA19079.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 others(12): Show a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0145 a0001c0001t0002g0048 a0001c0001t0002g0051 a0001c0001t0002g0095 a0001c0001t0003g0093 a0001c0001t0003g0096 a0001c0001t0003g0122 a0001c0001t0004g0142 a0001c0001t0004g0143 a0001c0001t0004g0179 a0001c0001t0005g0121	15	123	0.1220	7	c.396 others(26): Show c.396+18876_396+18882dupTTTTTTT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDEM1_chr3_5182707_5224958	5220533	G G	GGTTTTTT GGTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02572.hp1 HG02976.hp2 others(4): Show HG02109.hp1 HG02572.hp1 HG02976.hp2 HG03209.hp1 HG03516.hp1 HG03579.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0006 a0001c0001t0047 a0001c0004t0014 others(1): Show a0001c0001t0006 a0001c0001t0047 a0001c0004t0014 a0001c0004t0029	a0001c0001t0006g0088 a0001c0001t0047g0086 a0001c0004t0014g0012 others(2): Show a0001c0001t0006g0088 a0001c0001t0047g0086 a0001c0004t0014g0012 a0001c0004t0014g0065 a0001c0004t0029g0064	7	369	0.0190	7	c.46 others(18): Show c.4615_*4616insGTTTTTT	EDEM1	ENSG00000134109.11	transcript	ENST00000256497.9	protein_coding		576		chr3	TogoVar
EDEM2_chr20_35110364_35152336	35115087	C C	CAAAAAAA CAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01515.hp2 HG03492.hp2 others(7): Show HG01175.hp2 HG01515.hp2 HG03492.hp2 HG03516.hp2 HG03688.hp2 NA18940.hp1 NA18947.hp2 NA18979.hp2 NA19030.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0029 others(6): Show a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0029 a0001c0001t0001g0084 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0200	10	123	0.0813	7	c.34 others(16): Show c.345_*346insTTTTTTT	EDEM2	ENSG00000088298.13	transcript	ENST00000374492.8	protein_coding		276		chr20	TogoVar
EDEM3_chr1_184685237_184759858	184704649	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01081.hp2 others(4): Show HG01069.hp1 HG01071.hp1 HG01081.hp2 HG03195.hp2 NA18955.hp1 NA18961.hp2 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0017 a0001c0004t0004 a0001c0004t0025 a0001c0003t0017 a0001c0004t0004 a0001c0004t0025	a0001c0003t0017g0192 a0001c0004t0004g0262 a0001c0004t0004g0263 others(4): Show a0001c0003t0017g0192 a0001c0004t0004g0262 a0001c0004t0004g0263 a0001c0004t0004g0265 a0001c0004t0004g0275 a0001c0004t0004g0276 a0001c0004t0025g0273	7	79	0.0886	7	c.220 others(26): Show c.2204-1660_2204-1654dupTTTTTTT	EDEM3	ENSG00000116406.20	transcript	ENST00000318130.13	protein_coding	18/19			chr1	TogoVar
EDEM3_chr1_184685237_184759858	184750518	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(99): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00438.hp1 HG00609.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG00741.hp1 HG01106.hp1 HG01109.hp1 HG01257.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01891.hp1 HG01978.hp2 HG01981.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02132.hp2 HG02135.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02293.hp2 HG02602.hp2 HG03139.hp2 HG03195.hp2 HG03239.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG06807.hp1 NA18612.hp2 NA18747.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18947.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18963.hp1 NA18964.hp2 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18975.hp2 NA18981.hp1 NA18982.hp2 NA18986.hp1 NA18991.hp1 NA18993.hp1 NA18995.hp2 NA19000.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp2 NA19062.hp1 NA19063.hp1 NA19067.hp2 NA19072.hp2 NA19074.hp2 NA19078.hp1 NA19080.hp1 NA19081.hp1 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19089.hp1 NA19091.hp1 NA20300.hp1 NA20752.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0013 a0002c0002 others(1): Show a0001c0004 a0001c0013 a0002c0002 a0002c0011	a0001c0004t0004 a0001c0013t0040 a0002c0002t0002 others(9): Show a0001c0004t0004 a0001c0013t0040 a0002c0002t0002 a0002c0002t0004 a0002c0002t0008 a0002c0002t0012 a0002c0002t0015 a0002c0002t0016 a0002c0002t0021 a0002c0002t0022 a0002c0002t0037 a0002c0011t0002	a0001c0004t0004g0024 a0001c0004t0004g0261 a0001c0004t0004g0262 others(77): Show a0001c0004t0004g0024 a0001c0004t0004g0261 a0001c0004t0004g0262 a0001c0004t0004g0263 a0001c0013t0040g0287 a0002c0002t0002g0001 a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0016 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0186 a0002c0002t0002g0187 a0002c0002t0002g0190 a0002c0002t0002g0191 a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0002t0002g0196 a0002c0002t0002g0197 a0002c0002t0002g0198 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0202 a0002c0002t0002g0203 a0002c0002t0002g0204 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0210 a0002c0002t0002g0211 a0002c0002t0002g0213 a0002c0002t0002g0214 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0230 a0002c0002t0002g0234 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0246 a0002c0002t0002g0249 a0002c0002t0002g0250 a0002c0002t0002g0251 a0002c0002t0002g0280 a0002c0002t0004g0232 a0002c0002t0004g0245 a0002c0002t0008g0195 a0002c0002t0008g0212 a0002c0002t0008g0228 a0002c0002t0008g0233 a0002c0002t0008g0235 a0002c0002t0008g0248 a0002c0002t0012g0199 a0002c0002t0012g0207 a0002c0002t0012g0208 a0002c0002t0015g0017 a0002c0002t0016g0223 a0002c0002t0016g0229 a0002c0002t0021g0218 a0002c0002t0022g0231 a0002c0002t0037g0247 a0002c0011t0002g0209	102	244	0.4180	7	c.159 others(22): Show c.159-933_159-927dupAAAAAAA	EDEM3	ENSG00000116406.20	transcript	ENST00000318130.13	protein_coding	1/19			chr1	TogoVar
EDIL3_chr5_83935554_84389880	84037988	G G	GTTTTTTT GTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00741.hp1 HG01243.hp2 others(5): Show HG00438.hp2 HG00741.hp1 HG01243.hp2 HG03098.hp1 HG03098.hp2 HG03486.hp1 HG03704.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0007 a0001c0002t0014 a0001c0003t0003 a0001c0003t0005	a0001c0001t0001g0061 a0001c0001t0002g0035 a0001c0001t0003g0088 others(5): Show a0001c0001t0001g0061 a0001c0001t0002g0035 a0001c0001t0003g0088 a0001c0002t0001g0128 a0001c0002t0007g0057 a0001c0002t0014g0066 a0001c0003t0003g0073 a0001c0003t0005g0050	8	47	0.1702	7	c.113 others(28): Show c.1137+22305_1137+22311dupAAAAAAA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	9/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84238665	G G	GTTTTTTT GTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00558.hp1 others(24): Show HG00280.hp1 HG00438.hp1 HG00558.hp1 HG00741.hp1 HG00741.hp2 HG01109.hp1 HG01168.hp1 HG01346.hp2 HG01515.hp1 HG01515.hp2 HG01891.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02896.hp2 HG02922.hp2 HG03098.hp2 HG03209.hp2 HG03471.hp1 HG03831.hp2 NA18747.hp2 NA18944.hp2 NA18946.hp1 NA18949.hp2 NA18969.hp1 NA18984.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0013 a0001c0001t0016 a0001c0001t0020 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001	a0001c0001t0001g0056 a0001c0001t0001g0094 a0001c0001t0001g0099 others(24): Show a0001c0001t0001g0056 a0001c0001t0001g0094 a0001c0001t0001g0099 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0002g0035 a0001c0001t0002g0042 a0001c0001t0002g0045 a0001c0001t0002g0076 a0001c0001t0002g0081 a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0001t0002g0100 a0001c0001t0003g0060 a0001c0001t0003g0077 a0001c0001t0003g0088 a0001c0001t0003g0125 a0001c0001t0004g0078 a0001c0001t0004g0092 a0001c0001t0004g0093 a0001c0001t0004g0140 a0001c0001t0013g0083 a0001c0001t0016g0132 a0001c0001t0020g0158 a0001c0002t0001g0079 a0001c0002t0003g0070 a0001c0003t0001g0090	27	31	0.8710	7	c.197 others(24): Show c.197-8788_197-8782dupAAAAAAA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	2/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84252493	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG01106.hp2 others(4): Show HG00639.hp1 HG00639.hp2 HG01106.hp2 HG01515.hp2 HG02895.hp1 HG03139.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0011	a0001c0001t0003g0122 a0001c0001t0003g0146 a0001c0001t0003g0153 others(4): Show a0001c0001t0003g0122 a0001c0001t0003g0146 a0001c0001t0003g0153 a0001c0001t0004g0078 a0001c0002t0001g0109 a0001c0002t0001g0145 a0001c0002t0011g0001	7	24	0.2917	7	c.196 others(24): Show c.196+1584_196+1590dupTTTTTTT	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	2/10			chr5	TogoVar

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