Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
ENPP6_chr4_184083706_184222873	184122404	A A	ACACCACC others(8): Show ACACCACCACCACCAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02647.hp2 HG03239.hp1 others(1): Show HG02258.hp2 HG02647.hp2 HG03239.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0013 a0002c0012 a0001c0002 a0001c0013 a0002c0012	a0001c0002t0013 a0001c0013t0003 a0002c0012t0001 a0001c0002t0013 a0001c0013t0003 a0002c0012t0001	a0001c0002t0013g0021 a0001c0002t0013g0043 a0001c0013t0003g0126 others(1): Show a0001c0002t0013g0021 a0001c0002t0013g0043 a0001c0013t0003g0126 a0002c0012t0001g0036	4	320	0.0125	15	c.533 others(32): Show c.533+1742_533+1756dupGTGGTGGTGGTGGTG	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding	3/7			chr4	TogoVar
ENPP6_chr4_184083706_184222873	184220452	A A	AGAAGGGA others(8): Show AGAAGGGAAGAGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0101 a0001c0002t0002g0101	1	320	0.0031	15	c.-26 others(26): Show c.-2634_-2633insCCTTCTCTTCCCTTC	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding		2580		chr4	TogoVar
ENPP7_chr17_79725943_79747219	79743391	G G	GTGCCGGC others(8): Show GTGCCGGCACTGCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0051 a0002c0001t0001g0051	1	430	0.0023	15	c.16 others(26): Show c.1614_*1615insTGCCGGCACTGCCAC	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding		1173		chr17	TogoVar
ENTHD1_chr22_39738044_39898760	39766019	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	218	0.0046	15	c.833 others(30): Show c.833-425_833-411dupTTTTTTTTTTTTTTT	ENTHD1	ENSG00000176177.10	transcript	ENST00000325157.7	protein_coding	5/6			chr22	TogoVar
ENTHD1_chr22_39738044_39898760	39814295	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02896.hp2 HG03195.hp1 others(1): Show HG02886.hp1 HG02896.hp2 HG03195.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0002g0162 others(1): Show a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0002g0162 a0001c0001t0006g0214	4	218	0.0184	15	c.832 others(32): Show c.832+6683_832+6697dupTTTTTTTTTTTTTTT	ENTHD1	ENSG00000176177.10	transcript	ENST00000325157.7	protein_coding	5/6			chr22	TogoVar
ENTPD1_chr10_95751163_95882266	95758002	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0202 a0001c0001t0038g0202	1	340	0.0029	15	c.16+ others(30): Show c.16+1761_16+1775dupAAAAAAAAAAAAAAA	ENTPD1	ENSG00000138185.20	transcript	ENST00000371205.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
ENTPD1_chr10_95751163_95882266	95760814	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03710.hp2 HG02698.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0137 a0001c0001t0006g0138 a0001c0001t0006g0137 a0001c0001t0006g0138	2	340	0.0059	15	c.16+ others(30): Show c.16+4578_16+4592dupTTTTTTTTTTTTTTT	ENTPD1	ENSG00000138185.20	transcript	ENST00000371205.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
ENTPD4_chr8_23424162_23462647	23427124	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00735.hp1 HG01071.hp1 others(19): Show HG00597.hp2 HG00735.hp1 HG01071.hp1 HG01123.hp2 HG01243.hp1 HG02080.hp1 HG02602.hp2 HG02738.hp2 HG02970.hp2 HG03471.hp1 HG03516.hp2 NA18612.hp1 NA18941.hp1 NA18954.hp1 NA18957.hp1 NA18962.hp1 NA18965.hp2 NA18983.hp2 NA19002.hp2 NA19030.hp1 NA19077.hp2 NA19082.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0009	a0001c0001 a0001c0004 a0002c0002 others(2): Show a0001c0001 a0001c0004 a0002c0002 a0005c0008 a0009c0013	a0001c0001t0007 a0001c0001t0008 a0001c0001t0019 others(6): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0019 a0001c0004t0006 a0002c0002t0003 a0002c0002t0005 a0002c0002t0009 a0005c0008t0003 a0009c0013t0003	a0001c0001t0007g0010 a0001c0001t0007g0070 a0001c0001t0008g0011 others(9): Show a0001c0001t0007g0010 a0001c0001t0007g0070 a0001c0001t0008g0011 a0001c0001t0019g0040 a0001c0004t0006g0048 a0002c0002t0003g0003 a0002c0002t0003g0022 a0002c0002t0005g0006 a0002c0002t0005g0024 a0002c0002t0009g0009 a0005c0008t0003g0054 a0009c0013t0003g0051	22	412	0.0534	15	c.57 others(26): Show c.5787_*5801dupTTTTTTTTTTTTTTT	ENTPD4	ENSG00000197217.13	transcript	ENST00000358689.9	protein_coding		2037		chr8	TogoVar
ENTPD5_chr14_73958230_74024288	73995585	A A	AAATAATA others(8): Show AAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03239.hp1 HG03834.hp2 others(6): Show HG02486.hp2 HG03239.hp1 HG03834.hp2 HG04115.hp1 HG04204.hp2 NA18906.hp2 NA18941.hp2 NA18981.hp2 NA19080.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0002 a0001c0002t0009 a0001c0007t0009 a0001c0002t0002 a0001c0002t0009 a0001c0007t0009	a0001c0002t0002g0242 a0001c0002t0002g0287 a0001c0002t0002g0298 others(6): Show a0001c0002t0002g0242 a0001c0002t0002g0287 a0001c0002t0002g0298 a0001c0002t0002g0327 a0001c0002t0002g0329 a0001c0002t0002g0333 a0001c0002t0002g0334 a0001c0002t0009g0226 a0001c0007t0009g0064	9	380	0.0237	15	c.-70 others(32): Show c.-70-7428_-70-7414dupATTATTATTATTATT	ENTPD5	ENSG00000187097.13	transcript	ENST00000334696.11	protein_coding	3/15			chr14	TogoVar
ENTPD5_chr14_73958230_74024288	74005364	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00408.hp2 others(177): Show HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01243.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01891.hp2 HG01943.hp1 HG01981.hp1 HG02015.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02165.hp2 HG02258.hp2 HG02523.hp2 HG02559.hp1 HG02602.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp1 HG03471.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18612.hp2 NA18941.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA18995.hp2 NA19001.hp2 NA19002.hp2 NA19004.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp2 NA19070.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0004c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(12): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0013 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0002t0002 a0001c0002t0005 a0001c0002t0008 a0001c0002t0020 a0001c0005t0002 a0001c0008t0002 a0004c0006t0004	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0011 others(170): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0255 a0001c0001t0001g0320 a0001c0001t0001g0335 a0001c0001t0004g0207 a0001c0001t0004g0208 a0001c0001t0004g0213 a0001c0001t0004g0214 a0001c0001t0004g0229 a0001c0001t0004g0233 a0001c0001t0004g0234 a0001c0001t0004g0235 a0001c0001t0004g0236 a0001c0001t0004g0237 a0001c0001t0004g0238 a0001c0001t0004g0239 a0001c0001t0004g0241 a0001c0001t0004g0243 a0001c0001t0004g0244 a0001c0001t0004g0249 a0001c0001t0004g0250 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0004g0254 a0001c0001t0004g0256 a0001c0001t0004g0257 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0264 a0001c0001t0004g0267 a0001c0001t0004g0353 a0001c0001t0007g0010 a0001c0001t0007g0142 a0001c0001t0007g0143 a0001c0001t0007g0146 a0001c0001t0007g0147 a0001c0001t0007g0153 a0001c0001t0007g0159 a0001c0001t0007g0161 a0001c0001t0007g0172 a0001c0001t0007g0173 a0001c0001t0007g0175 a0001c0001t0007g0183 a0001c0001t0007g0188 a0001c0001t0007g0195 a0001c0001t0007g0197 a0001c0001t0007g0199 a0001c0001t0007g0200 a0001c0001t0007g0201 a0001c0001t0007g0291 a0001c0001t0007g0313 a0001c0001t0013g0240 a0001c0001t0013g0246 a0001c0001t0013g0247 a0001c0001t0013g0269 a0001c0001t0031g0248 a0001c0001t0032g0166 a0001c0001t0034g0232 a0001c0001t0035g0026 a0001c0002t0002g0242 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0002t0002g0288 a0001c0002t0002g0292 a0001c0002t0002g0293 a0001c0002t0002g0294 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0298 a0001c0002t0002g0299 a0001c0002t0002g0300 a0001c0002t0002g0301 a0001c0002t0002g0302 a0001c0002t0002g0303 a0001c0002t0002g0304 a0001c0002t0002g0305 a0001c0002t0002g0306 a0001c0002t0002g0307 a0001c0002t0002g0308 a0001c0002t0002g0309 a0001c0002t0002g0310 a0001c0002t0002g0311 a0001c0002t0002g0312 a0001c0002t0002g0314 a0001c0002t0002g0315 a0001c0002t0002g0316 a0001c0002t0002g0321 a0001c0002t0002g0322 a0001c0002t0002g0323 a0001c0002t0002g0326 a0001c0002t0002g0327 a0001c0002t0002g0328 a0001c0002t0002g0329 a0001c0002t0002g0330 a0001c0002t0002g0331 a0001c0002t0002g0332 a0001c0002t0002g0333 a0001c0002t0002g0334 a0001c0002t0002g0336 a0001c0002t0002g0337 a0001c0002t0002g0349 a0001c0002t0002g0350 a0001c0002t0002g0351 a0001c0002t0002g0352 a0001c0002t0002g0354 a0001c0002t0002g0355 a0001c0002t0005g0023 a0001c0002t0005g0030 a0001c0002t0005g0049 a0001c0002t0008g0054 a0001c0002t0008g0055 a0001c0002t0008g0056 a0001c0002t0008g0339 a0001c0002t0008g0340 a0001c0002t0008g0341 a0001c0002t0008g0342 a0001c0002t0008g0343 a0001c0002t0008g0344 a0001c0002t0008g0345 a0001c0002t0008g0362 a0001c0002t0020g0289 a0001c0002t0020g0290 a0001c0005t0002g0346 a0001c0005t0002g0347 a0001c0008t0002g0324 a0004c0006t0004g0013	180	380	0.4737	15	c.-71 others(32): Show c.-71+5726_-71+5727insTTTTTTTTTTTTTTT	ENTPD5	ENSG00000187097.13	transcript	ENST00000334696.11	protein_coding	3/15			chr14	TogoVar
ENTREP1_chr9_69320215_69397456	69351388	T T	TTGATGAT others(8): Show TTGATGATGATGATGA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01361.hp1 HG02258.hp1 others(6): Show HG01167.hp1 HG01361.hp1 HG02258.hp1 HG02300.hp2 HG02895.hp1 HG03491.hp2 HG03492.hp2 HG04199.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 others(6): Show a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0054 a0001c0001t0001g0189 a0001c0001t0003g0208	9	342	0.0263	15	c.471 others(34): Show c.471+15136_471+15150dupGATGATGATGATGAT	ENTREP1	ENSG00000135063.20	transcript	ENST00000303068.14	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
ENTREP2_chr15_29115252_29575979	29264154	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG02145.hp2 others(14): Show HG02055.hp1 HG02109.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03540.hp1 HG06807.hp2 NA18906.hp2 NA19030.hp2 NA19043.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0008	a0001c0002 a0001c0008 a0001c0010 others(9): Show a0001c0002 a0001c0008 a0001c0010 a0002c0003 a0002c0004 a0002c0005 a0002c0012 a0002c0031 a0003c0007 a0005c0016 a0005c0018 a0008c0025	a0001c0002t0004 a0001c0008t0036 a0001c0010t0001 others(13): Show a0001c0002t0004 a0001c0008t0036 a0001c0010t0001 a0001c0010t0004 a0002c0003t0023 a0002c0003t0032 a0002c0003t0035 a0002c0004t0003 a0002c0005t0005 a0002c0012t0009 a0002c0031t0040 a0003c0007t0002 a0003c0007t0050 a0005c0016t0006 a0005c0018t0006 a0008c0025t0002	a0001c0002t0004g0002 a0001c0008t0036g0045 a0001c0010t0001g0088 others(14): Show a0001c0002t0004g0002 a0001c0008t0036g0045 a0001c0010t0001g0088 a0001c0010t0004g0018 a0002c0003t0023g0027 a0002c0003t0032g0109 a0002c0003t0035g0104 a0002c0004t0003g0111 a0002c0005t0005g0057 a0002c0012t0009g0061 a0002c0012t0009g0092 a0002c0031t0040g0080 a0003c0007t0002g0094 a0003c0007t0050g0125 a0005c0016t0006g0079 a0005c0018t0006g0084 a0008c0025t0002g0090	17	125	0.1360	15	c.277 others(34): Show c.277-11677_277-11676insTTTTTTTTTTTTTTT	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	2/10			chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29377823	A A	AAATAATA others(8): Show AAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01081.hp1 HG01109.hp1 others(7): Show HG00741.hp2 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG02451.hp2 HG02809.hp2 NA18962.hp2 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0010 others(4): Show a0001c0001 a0001c0002 a0001c0010 a0002c0004 a0002c0005 a0003c0007 a0004c0013	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0010t0001 a0002c0004t0003 a0002c0005t0005 a0002c0005t0011 a0003c0007t0002 a0004c0013t0001	a0001c0001t0001g0069 a0001c0001t0002g0099 a0001c0002t0001g0041 others(7): Show a0001c0001t0001g0069 a0001c0001t0002g0099 a0001c0002t0001g0041 a0001c0010t0001g0073 a0002c0004t0003g0101 a0002c0004t0003g0119 a0002c0005t0005g0095 a0002c0005t0011g0023 a0003c0007t0002g0074 a0004c0013t0001g0114	10	125	0.0800	15	c.276 others(32): Show c.276+3937_276+3951dupATTATTATTATTATT	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	2/10			chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29444170	C C	CAGACACG others(8): Show CAGACACGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03579.hp2 HG03139.hp1 HG03579.hp2	a0001 a0003 a0001 a0003	a0001c0008 a0003c0007 a0001c0008 a0003c0007	a0001c0008t0007 a0003c0007t0002 a0001c0008t0007 a0003c0007t0002	a0001c0008t0007g0115 a0003c0007t0002g0087 a0001c0008t0007g0115 a0003c0007t0002g0087	2	125	0.0160	15	c.220 others(34): Show c.220-62340_220-62339insCTTTCTTTCGTGTCT	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10			chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29570011	A A	AAACCCGA others(8): Show AAACCCGACGGGAGGC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp1 HG02280.hp1 others(1): Show HG01891.hp1 HG02258.hp1 HG02280.hp1 NA20300.hp1	a0002 a0003 a0007 a0002 a0003 a0007	a0002c0004 a0003c0006 a0003c0014 others(1): Show a0002c0004 a0003c0006 a0003c0014 a0007c0022	a0002c0004t0037 a0003c0006t0046 a0003c0014t0002 others(1): Show a0002c0004t0037 a0003c0006t0046 a0003c0014t0002 a0007c0022t0017	a0002c0004t0037g0066 a0003c0006t0046g0037 a0003c0014t0002g0067 others(1): Show a0002c0004t0037g0066 a0003c0006t0046g0037 a0003c0014t0002g0067 a0007c0022t0017g0043	4	125	0.0320	15	c.219 others(30): Show c.219+479_219+493dupGCCTCCCGTCGGGTT	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10			chr15	TogoVar
ENTREP3_chr1_155242205_155260483	155252722	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18955.hp1 HG02523.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	2	395	0.0051	15	c.622 others(30): Show c.622-818_622-817insATATATATATATATA	ENTREP3	ENSG00000160767.23	transcript	ENST00000361361.7	protein_coding	5/11			chr1	TogoVar
ENTREP3_chr1_155242205_155260483	155252722	A A	ATATATAT others(8): Show ATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	395	0.0025	15	c.622 others(30): Show c.622-818_622-817insAAAAAAATATATATA	ENTREP3	ENSG00000160767.23	transcript	ENST00000361361.7	protein_coding	5/11			chr1	TogoVar
ENTREP3_chr1_155242205_155260483	155252723	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01099.hp1 HG01167.hp1 others(4): Show HG01069.hp1 HG01099.hp1 HG01167.hp1 NA18946.hp1 NA18968.hp2 NA18994.hp1 NA19089.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0003c0002t0001 a0001c0001t0001 a0003c0002t0001	a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0194 others(4): Show a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0194 a0001c0001t0001g0215 a0001c0001t0001g0216 a0003c0002t0001g0171 a0003c0002t0001g0193	7	395	0.0177	15	c.622 others(30): Show c.622-819_622-818insTATATATATATATAT	ENTREP3	ENSG00000160767.23	transcript	ENST00000361361.7	protein_coding	5/11			chr1	TogoVar
EOGT_chr3_68970225_69018684	69007507	C C	CGGGGGGG others(8): Show CGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03831.hp1 HG03942.hp1 HG02572.hp1 HG03831.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0047 a0001c0002t0001 a0001c0001t0001 a0001c0001t0047 a0001c0002t0001	a0001c0001t0001g0056 a0001c0001t0047g0206 a0001c0002t0001g0273 a0001c0001t0001g0056 a0001c0001t0047g0206 a0001c0002t0001g0273	3	444	0.0068	15	c.420 others(30): Show c.420+205_420+206insCCCCCCCCCCCCCCC	EOGT	ENSG00000163378.14	transcript	ENST00000383701.8	protein_coding	6/17			chr3	TogoVar
EOMES_chr3_27710953_27727323	27711316	A A	ATATATAT others(8): Show ATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	15	c.57 others(26): Show c.5753_*5754insATATATATATATATA	EOMES	ENSG00000163508.13	transcript	ENST00000449599.4	protein_coding		4636		chr3	TogoVar
EOMES_chr3_27710953_27727323	27711316	A A	ATATATAT others(8): Show ATATATATATATATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0012 a0002c0002t0002g0012	1	400	0.0025	15	c.57 others(26): Show c.5753_*5754insAAATATATATATATA	EOMES	ENSG00000163508.13	transcript	ENST00000449599.4	protein_coding		4636		chr3	TogoVar
EOMES_chr3_27710953_27727323	27711317	T T	TATATATA others(8): Show TATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp1 NA18986.hp2 NA18992.hp2 others(1): Show NA18986.hp1 NA18986.hp2 NA18992.hp2 NA19065.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0005 a0001c0001 a0007c0005	a0001c0001t0001 a0007c0005t0001 a0001c0001t0001 a0007c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0007c0005t0001g0036 a0001c0001t0001g0001 a0001c0001t0001g0003 a0007c0005t0001g0036	4	400	0.0100	15	c.57 others(26): Show c.5752_*5753insTATATATATATATAT	EOMES	ENSG00000163508.13	transcript	ENST00000449599.4	protein_coding		4635		chr3	TogoVar
EP300_chr22_41087592_41185077	41088007	A A	AAAAAGAA others(8): Show AAAAAGAAAAGAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG02257.hp2 HG03209.hp2 others(2): Show HG00639.hp1 HG02257.hp2 HG03209.hp2 NA18522.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0001t0003 a0001c0006t0007 a0001c0001t0002 a0001c0001t0003 a0001c0006t0007	a0001c0001t0002g0213 a0001c0001t0003g0278 a0001c0001t0003g0279 others(2): Show a0001c0001t0002g0213 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0006t0007g0043 a0001c0006t0007g0048	5	300	0.0167	15	c.-49 others(26): Show c.-4998_-4997insAAAAGAAAAGAAAAG	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding		4584		chr22	TogoVar
EP300_chr22_41087592_41185077	41089698	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0046 a0001c0006t0007g0046	1	300	0.0033	15	c.-33 others(26): Show c.-3307_-3306insTTTTTTTTTTTTTTT	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding		2893		chr22	TogoVar
EP300_chr22_41087592_41185077	41110282	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0005 a0001c0004t0003g0005	1	300	0.0033	15	c.95- others(30): Show c.95-6881_95-6867dupTTTTTTTTTTTTTTT	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr22	TogoVar
EP300_chr22_41087592_41185077	41154376	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp2 HG00733.hp2 others(5): Show HG00323.hp1 HG00642.hp2 HG00733.hp2 HG01070.hp1 HG01109.hp1 HG01257.hp1 HG02735.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0003 a0002c0029 a0002c0031 a0002c0003 a0002c0029 a0002c0031	a0002c0003t0001 a0002c0003t0013 a0002c0029t0001 others(1): Show a0002c0003t0001 a0002c0003t0013 a0002c0029t0001 a0002c0031t0001	a0002c0003t0001g0149 a0002c0003t0001g0157 a0002c0003t0001g0158 others(5): Show a0002c0003t0001g0149 a0002c0003t0001g0157 a0002c0003t0001g0158 a0002c0003t0013g0136 a0002c0003t0013g0150 a0002c0003t0013g0174 a0002c0029t0001g0179 a0002c0031t0001g0154	8	300	0.0267	15	c.314 others(32): Show c.3143-610_3143-596dupTTTTTTTTTTTTTTT	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	16/30		INFO_REALIGN_3_PRIME	chr22	TogoVar
EP400_chr12_131944942_132085460	132073459	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02258.hp1 HG02630.hp1 others(3): Show HG01243.hp2 HG02258.hp1 HG02630.hp1 HG03098.hp2 NA18522.hp2 NA18906.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0068 a0002c0001 a0002c0022 others(3): Show a0001c0068 a0002c0001 a0002c0022 a0003c0014 a0004c0047 a0005c0007	a0001c0068t0001 a0002c0001t0003 a0002c0022t0003 others(3): Show a0001c0068t0001 a0002c0001t0003 a0002c0022t0003 a0003c0014t0007 a0004c0047t0001 a0005c0007t0003	a0001c0068t0001g0073 a0002c0001t0003g0130 a0002c0022t0003g0131 others(3): Show a0001c0068t0001g0073 a0002c0001t0003g0130 a0002c0022t0003g0131 a0003c0014t0007g0163 a0004c0047t0001g0070 a0005c0007t0003g0094	6	208	0.0289	15	c.902 others(34): Show c.9022-3043_9022-3042insTTTTTTTTTTTTTTT	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	51/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
EPAS1_chr2_46292407_46391697	46359257	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00639.hp1 others(64): Show HG00099.hp2 HG00280.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00738.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01175.hp2 HG01255.hp2 HG01928.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02523.hp1 HG02523.hp2 HG02717.hp1 HG02818.hp1 HG02970.hp2 HG03209.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03688.hp1 HG04199.hp1 HG04228.hp2 NA18747.hp1 NA18951.hp1 NA18954.hp1 NA18957.hp1 NA18964.hp1 NA18964.hp2 NA18971.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18984.hp1 NA18999.hp1 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA19012.hp2 NA19057.hp2 NA19060.hp1 NA19066.hp2 NA19067.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19088.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0002c0002 others(2): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0022 a0001c0001t0023 a0001c0001t0034 a0001c0005t0018 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0014 a0002c0002t0020 a0003c0003t0033 a0003c0004t0009	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0049 others(63): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0075 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0100 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0283 a0001c0001t0001g0313 a0001c0001t0002g0059 a0001c0001t0002g0072 a0001c0001t0002g0092 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0108 a0001c0001t0002g0114 a0001c0001t0002g0246 a0001c0001t0002g0305 a0001c0001t0003g0212 a0001c0001t0003g0263 a0001c0001t0004g0051 a0001c0001t0004g0264 a0001c0001t0004g0267 a0001c0001t0007g0171 a0001c0001t0007g0270 a0001c0001t0007g0289 a0001c0001t0010g0191 a0001c0001t0012g0109 a0001c0001t0022g0192 a0001c0001t0023g0139 a0001c0001t0034g0291 a0001c0005t0018g0183 a0002c0002t0001g0124 a0002c0002t0001g0152 a0002c0002t0001g0155 a0002c0002t0001g0181 a0002c0002t0001g0277 a0002c0002t0003g0204 a0002c0002t0003g0228 a0002c0002t0003g0250 a0002c0002t0003g0251 a0002c0002t0004g0040 a0002c0002t0014g0044 a0002c0002t0020g0018 a0003c0003t0033g0188 a0003c0004t0009g0020 a0003c0004t0009g0022	67	326	0.2055	15	c.455 others(32): Show c.455-1371_455-1357dupAAAAAAAAAAAAAAA	EPAS1	ENSG00000116016.14	transcript	ENST00000263734.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPAS1_chr2_46292407_46391697	46363017	G G	GTGGTGGT others(8): Show GTGGTGGTGGTGATGA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0186 a0001c0001t0036g0186	1	326	0.0031	15	c.779 others(32): Show c.779+1929_779+1930insGTGGTGGTGATGATG	EPAS1	ENSG00000116016.14	transcript	ENST00000263734.5	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPB41L2_chr6_130834347_131068245	130892403	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00639.hp1 HG01081.hp1 others(22): Show HG00544.hp2 HG00639.hp1 HG01081.hp1 HG01168.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01496.hp2 HG01943.hp1 HG02293.hp1 HG02735.hp1 HG03491.hp2 HG04115.hp2 NA18747.hp2 NA18955.hp1 NA18959.hp1 NA18973.hp2 NA18995.hp2 NA19003.hp2 NA19066.hp1 NA19077.hp2 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0002	a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0143 others(22): Show a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0245 a0001c0001t0002g0293 a0001c0001t0002g0297 a0001c0001t0002g0303 a0001c0001t0004g0300 a0001c0002t0002g0130 a0001c0002t0002g0138	25	356	0.0702	15	c.148 others(34): Show c.1487+1926_1488-1938dupAAAAAAAAAAAAAAA	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	10/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	130954040	C C	CTTTCTTT others(8): Show CTTTCTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00741.hp2 HG01496.hp2 others(12): Show HG00140.hp2 HG00741.hp2 HG01496.hp2 HG01993.hp1 HG03654.hp1 HG04115.hp2 HG04228.hp1 NA18977.hp1 NA18994.hp1 NA19003.hp1 NA19003.hp2 NA19080.hp2 NA19081.hp2 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0009 a0001c0001 a0001c0007 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0007t0003 a0001c0009t0001	a0001c0001t0001g0143 a0001c0001t0001g0162 a0001c0001t0001g0165 others(12): Show a0001c0001t0001g0143 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0002g0159 a0001c0001t0003g0176 a0001c0001t0003g0180 a0001c0001t0003g0185 a0001c0001t0003g0198 a0001c0001t0003g0200 a0001c0001t0003g0216 a0001c0001t0004g0163 a0001c0007t0003g0188 a0001c0009t0001g0131	15	356	0.0421	15	c.705 others(32): Show c.705+1064_705+1065insAAAAAAAAAAAGAAA	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	3/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	130972937	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02080.hp2 HG04115.hp1 others(1): Show HG02015.hp1 HG02080.hp2 HG04115.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0183 a0001c0001t0003g0199 a0001c0001t0003g0204 others(1): Show a0001c0001t0003g0183 a0001c0001t0003g0199 a0001c0001t0003g0204 a0001c0002t0002g0173	4	356	0.0112	15	c.-14 others(34): Show c.-14-16453_-14-16439dupTTTTTTTTTTTTTTT	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	1/19			chr6	TogoVar
EPB41L3_chr18_5387386_5548997	5488579	G G	GATAATAA others(8): Show GATAATAATAATAATA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02165.hp2 HG03041.hp1 others(6): Show HG02135.hp1 HG02165.hp2 HG03041.hp1 HG03130.hp1 HG04184.hp2 NA18978.hp1 NA19000.hp2 NA19010.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0020 a0001c0001 a0001c0002 a0001c0020	a0001c0001t0001 a0001c0001t0013 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0013 a0001c0002t0002 a0001c0020t0001	a0001c0001t0001g0052 a0001c0001t0001g0179 a0001c0001t0001g0180 others(6): Show a0001c0001t0001g0052 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0013g0025 a0001c0002t0002g0016 a0001c0002t0002g0221 a0001c0020t0001g0198	9	222	0.0405	15	c.183 others(30): Show c.183+421_183+422insTATTATTATTATTAT	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding	2/22			chr18	TogoVar
EPB41L4A_chr5_112157619_112424277	112346215	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0056 a0002c0003t0006g0056	1	228	0.0044	15	c.100 others(34): Show c.100-38726_100-38725insAAAAAAAAAAAAAAA	EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22			chr5	TogoVar
EPB41L4A_chr5_112157619_112424277	112408675	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0009 a0009	a0009c0030 a0009c0030	a0009c0030t0001 a0009c0030t0001	a0009c0030t0001g0188 a0009c0030t0001g0188	1	228	0.0044	15	c.99+ others(32): Show c.99+10251_99+10265dupTTTTTTTTTTTTTTT	EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22			chr5	TogoVar
EPB41L4B_chr9_109166974_109326059	109288722	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01884.hp1 HG02129.hp2 HG00544.hp2 HG01884.hp1 HG02129.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0022 a0002c0003t0007 a0001c0002t0022 a0002c0003t0007	a0001c0002t0022g0074 a0002c0003t0007g0265 a0002c0003t0007g0266 a0001c0002t0022g0074 a0002c0003t0007g0265 a0002c0003t0007g0266	3	318	0.0094	15	c.307 others(32): Show c.307-8816_307-8802dupTTTTTTTTTTTTTTT	EPB41L4B	ENSG00000095203.15	transcript	ENST00000374566.8	protein_coding	1/25			chr9	TogoVar
EPB41L5_chr2_120008077_120184119	120069128	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 NA18990.hp1 HG00639.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0094 a0001c0001t0002g0008 a0001c0001t0002g0094	2	278	0.0072	15	c.286 others(32): Show c.286-4025_286-4011dupAAAAAAAAAAAAAAA	EPB41L5	ENSG00000115109.14	transcript	ENST00000263713.10	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPB41L5_chr2_120008077_120184119	120098156	T T	TGTGTGTG others(8): Show TGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0169 a0002c0002t0001g0169	1	278	0.0036	15	c.117 others(34): Show c.1179-2088_1179-2087insGTGTGTGTGTGTGTG	EPB41L5	ENSG00000115109.14	transcript	ENST00000263713.10	protein_coding	14/24			chr2	TogoVar
EPB41_chr1_28909569_29125041	28934666	T T	TTTGTGTG others(8): Show TTTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02135.hp2 HG02683.hp2 others(5): Show HG01255.hp1 HG02135.hp2 HG02683.hp2 HG03225.hp1 HG03490.hp1 HG03492.hp2 NA19043.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0004c0008 a0001c0001 a0001c0004 a0004c0008	a0001c0001t0001 a0001c0004t0009 a0004c0008t0001 a0001c0001t0001 a0001c0004t0009 a0004c0008t0001	a0001c0001t0001g0020 a0001c0001t0001g0033 a0001c0001t0001g0034 others(5): Show a0001c0001t0001g0020 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0054 a0001c0004t0009g0128 a0001c0004t0009g0134 a0001c0004t0009g0141 a0004c0008t0001g0017	8	312	0.0256	15	c.-8+ others(32): Show c.-8+19899_-8+19900insTGTGTGTGTGTGTGT	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28935441	A A	ACACACAC others(8): Show ACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	312	0.0032	15	c.-8+ others(32): Show c.-8+20674_-8+20688dupCACACACACACACAC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28935467	A A	ACACACAC others(8): Show ACACACACACACACCC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	312	0.0032	15	c.-8+ others(32): Show c.-8+20700_-8+20701insACACACACACACCCC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28935468	C C	CACACACA others(8): Show CACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	312	0.0032	15	c.-8+ others(32): Show c.-8+20700_-8+20701insACACACACACACACA	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20			chr1	TogoVar
EPB41_chr1_28909569_29125041	28966732	G G	GGTAGTCT others(8): Show GGTAGTCTTCCAGGCA	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	312	0.0032	15	c.-7- others(32): Show c.-7-20697_-7-20683dupTAGTCTTCCAGGCAG	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	29047253	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0134 a0001c0004t0009g0134	1	312	0.0032	15	c.163 others(34): Show c.1637-5849_1637-5835dupTTTTTTTTTTTTTTT	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPC1_chr10_32262751_32352158	32290483	C C	CTCAAAAA others(8): Show CTCAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0059 a0001c0001t0007g0059	1	318	0.0031	15	c.975 others(30): Show c.975+679_975+680insTTTTTTTTTTTTTGA	EPC1	ENSG00000120616.16	transcript	ENST00000319778.11	protein_coding	6/13			chr10	TogoVar
EPC2_chr2_148639751_148792569	148775658	A A	AAATTAAA others(8): Show AAATTAAATTTAATTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02723.hp1 HG02965.hp2 HG02572.hp2 HG02723.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253	3	308	0.0097	15	c.172 others(34): Show c.1720+4279_1720+4280insTTAATTTAATTAAAT	EPC2	ENSG00000135999.12	transcript	ENST00000258484.11	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPC2_chr2_148639751_148792569	148775730	T T	TTTATTAA others(8): Show TTTATTAAATAAAAAA	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	308	0.0033	15	c.172 others(34): Show c.1720+4346_1720+4347insTTAAATAAAAAATTA	EPC2	ENSG00000135999.12	transcript	ENST00000258484.11	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPCAM_chr2_47364311_47392020	47368413	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0343 a0001c0001t0003g0343	1	450	0.0022	15	c.-10 others(26): Show c.-1093_-1092insTTTTTTTTTTTTTTT	EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding		897		chr2	TogoVar
EPDR1_chr7_37915640_37956936	37937985	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02698.hp1 NA20905.hp2 HG01433.hp2 HG02698.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0015 a0001c0001t0001 a0001c0002t0015	a0001c0001t0001g0085 a0001c0002t0015g0158 a0001c0002t0015g0163 a0001c0001t0001g0085 a0001c0002t0015g0158 a0001c0002t0015g0163	3	448	0.0067	15	c.270 others(34): Show c.270-10846_270-10832dupTTTTTTTTTTTTTTT	EPDR1	ENSG00000086289.13	transcript	ENST00000199448.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
EPHA10_chr1_37710976_37770120	37713458	G G	GTAATAAT others(8): Show GTAATAATAATAATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02896.hp1 HG01167.hp1 HG01169.hp1 HG02896.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0003 a0004c0003t0003	a0004c0003t0003g0188 a0004c0003t0003g0190 a0004c0003t0003g0192 a0004c0003t0003g0188 a0004c0003t0003g0190 a0004c0003t0003g0192	3	382	0.0079	15	c.49 others(26): Show c.4913_*4914insTTATTATTATTATTA	EPHA10	ENSG00000183317.17	transcript	ENST00000373048.9	protein_coding		2517		chr1	TogoVar

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