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
ECM2_chr9_92490315_92540990	92533328	A A	AAAAAAAA others(10): Show AAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA20805.hp2 HG02071.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0221 a0001c0001t0001g0006 a0001c0001t0001g0221	2	153	0.0131	17	c.-28 others(34): Show c.-28+2604_-28+2605insATATATATATTTTTTTT	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECM2_chr9_92490315_92540990	92533328	A A	AAAAATAT others(10): Show AAAAATATATATATACAT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	152	0.0066	17	c.-28 others(34): Show c.-28+2604_-28+2605insATGTATATATATATTTT	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECM2_chr9_92490315_92540990	92533328	A A	AAAAATAT others(10): Show AAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	152	0.0066	17	c.-28 others(34): Show c.-28+2604_-28+2605insATATATATATATATTTT	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECPAS_chr9_111355685_111489383	111407428	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01361.hp2 others(1): Show HG01167.hp1 HG01169.hp1 HG01361.hp2 HG03710.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0135 a0002c0002t0001g0137 a0002c0002t0001g0146 others(1): Show a0002c0002t0001g0135 a0002c0002t0001g0137 a0002c0002t0001g0146 a0002c0002t0001g0334	4	328	0.0122	17	c.265 others(36): Show c.2652+1142_2652+1143insCTTTTTTTTTTTTTTTT	ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	24/49			chr9	TogoVar
ECRG4_chr2_106060688_106083155	106071322	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18972.hp1 NA18982.hp2 others(1): Show HG02074.hp2 NA18972.hp1 NA18982.hp2 NA18989.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0001 a0004c0009t0001 a0001c0001t0001 a0004c0009t0001	a0001c0001t0001g0041 a0001c0001t0001g0155 a0004c0009t0001g0185 a0001c0001t0001g0041 a0001c0001t0001g0155 a0004c0009t0001g0185	4	36	0.1111	17	c.80- others(30): Show c.80-508_80-492dupAAAAAAAAAAAAAAAAA	ECRG4	ENSG00000119147.10	transcript	ENST00000238044.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
ECSIT_chr19_11500929_11534134	11508383	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02257.hp1 HG02723.hp1 others(3): Show HG01891.hp2 HG02257.hp1 HG02723.hp1 HG02976.hp2 HG03139.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0108 a0001c0001t0002g0009 a0001c0001t0002g0047 others(1): Show a0001c0001t0001g0108 a0001c0001t0002g0009 a0001c0001t0002g0047 a0001c0001t0002g0048	6	218	0.0275	17	c.739 others(32): Show c.739-336_739-335insAAAAAAAAAAAAAAAAA	ECSIT	ENSG00000130159.15	transcript	ENST00000270517.12	protein_coding	4/7			chr19	TogoVar
ECT2L_chr6_138791087_138909070	138864002	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp1 HG02257.hp2 HG01884.hp2 HG02109.hp1 HG02257.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0300 a0005c0005t0001g0301 a0005c0005t0001g0302 a0005c0005t0001g0300 a0005c0005t0001g0301 a0005c0005t0001g0302	3	48	0.0625	17	c.129 others(34): Show c.1292-983_1292-967dupAAAAAAAAAAAAAAAAA	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	11/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
ECT2L_chr6_138791087_138909070	138890492	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0265 a0001c0001t0004g0265	1	15	0.0667	17	c.241 others(36): Show c.2414+1473_2414+1489dupTTTTTTTTTTTTTTTTT	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
ECT2L_chr6_138791087_138909070	138896084	A A	ATGTCTGT others(10): Show ATGTCTGTGATTTTAAAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00738.hp1 others(70): Show HG00423.hp1 HG00438.hp2 HG00738.hp1 HG00741.hp2 HG02027.hp1 HG02145.hp1 HG02145.hp2 HG02451.hp1 HG02572.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02723.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp1 HG03704.hp2 HG03927.hp2 HG03942.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18942.hp1 NA18944.hp1 NA18951.hp1 NA18959.hp1 NA18962.hp1 NA18964.hp1 NA18969.hp2 NA18970.hp2 NA18974.hp2 NA18975.hp2 NA18980.hp2 NA18981.hp1 NA18985.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18993.hp1 NA18993.hp2 NA18998.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp2 NA19065.hp2 NA19079.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2	a0001 a0004 a0005 others(7): Show a0001 a0004 a0005 a0006 a0007 a0009 a0011 a0012 a0013 a0017	a0001c0001 a0001c0002 a0001c0017 others(11): Show a0001c0001 a0001c0002 a0001c0017 a0001c0023 a0004c0010 a0005c0019 a0006c0011 a0007c0008 a0007c0012 a0009c0013 a0011c0015 a0012c0026 a0013c0024 a0017c0027	a0001c0001t0016 a0001c0002t0002 a0001c0002t0003 others(15): Show a0001c0001t0016 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0013 a0001c0017t0003 a0001c0023t0002 a0004c0010t0003 a0004c0010t0018 a0005c0019t0005 a0006c0011t0005 a0007c0008t0014 a0007c0012t0003 a0009c0013t0002 a0011c0015t0002 a0012c0026t0002 a0013c0024t0005 a0017c0027t0002	a0001c0001t0016g0212 a0001c0002t0002g0037 a0001c0002t0002g0043 others(70): Show a0001c0001t0016g0212 a0001c0002t0002g0037 a0001c0002t0002g0043 a0001c0002t0002g0052 a0001c0002t0002g0058 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0075 a0001c0002t0002g0089 a0001c0002t0002g0100 a0001c0002t0002g0150 a0001c0002t0002g0163 a0001c0002t0002g0164 a0001c0002t0002g0172 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0185 a0001c0002t0002g0187 a0001c0002t0002g0188 a0001c0002t0002g0190 a0001c0002t0002g0191 a0001c0002t0002g0192 a0001c0002t0002g0193 a0001c0002t0002g0200 a0001c0002t0002g0223 a0001c0002t0002g0304 a0001c0002t0002g0323 a0001c0002t0002g0326 a0001c0002t0003g0001 a0001c0002t0003g0020 a0001c0002t0003g0122 a0001c0002t0003g0123 a0001c0002t0003g0124 a0001c0002t0003g0132 a0001c0002t0003g0135 a0001c0002t0003g0159 a0001c0002t0003g0196 a0001c0002t0003g0198 a0001c0002t0003g0214 a0001c0002t0003g0231 a0001c0002t0003g0232 a0001c0002t0003g0235 a0001c0002t0003g0245 a0001c0002t0003g0246 a0001c0002t0003g0248 a0001c0002t0005g0257 a0001c0002t0005g0259 a0001c0002t0005g0260 a0001c0002t0005g0267 a0001c0002t0005g0269 a0001c0002t0005g0275 a0001c0002t0005g0292 a0001c0002t0013g0217 a0001c0002t0013g0220 a0001c0002t0013g0222 a0001c0017t0003g0142 a0001c0023t0002g0299 a0004c0010t0003g0021 a0004c0010t0018g0008 a0004c0010t0018g0009 a0005c0019t0005g0276 a0006c0011t0005g0207 a0006c0011t0005g0208 a0007c0008t0014g0013 a0007c0008t0014g0237 a0007c0012t0003g0238 a0007c0012t0003g0239 a0009c0013t0002g0307 a0009c0013t0002g0308 a0011c0015t0002g0315 a0012c0026t0002g0305 a0013c0024t0005g0268 a0017c0027t0002g0036	73	324	0.2253	17	c.241 others(36): Show c.2415-4863_2415-4862insGTCTGTGATTTTAAACT	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
ECT2L_chr6_138791087_138909070	138907313	A A	AAGTGTGT others(10): Show AAGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG02486.hp2 HG02647.hp2 others(6): Show HG01433.hp1 HG02486.hp2 HG02647.hp2 HG03516.hp2 HG03540.hp2 HG06807.hp2 NA18966.hp2 NA18984.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 others(1): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0002c0003t0007	a0001c0001t0002g0201 a0001c0001t0007g0006 a0001c0001t0007g0247 others(6): Show a0001c0001t0002g0201 a0001c0001t0007g0006 a0001c0001t0007g0247 a0001c0001t0008g0118 a0001c0001t0008g0250 a0001c0001t0008g0318 a0002c0003t0007g0321 a0002c0003t0007g0322 a0002c0003t0007g0324	9	75	0.1200	17	c.46 others(28): Show c.4686_*4687insAGTGTGTGTGTGTGTGT	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding		3244		chr6	TogoVar
EDARADD_chr1_236389286_236489930	236393391	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02486.hp1 NA19240.hp1 HG02257.hp1 HG02486.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0008 a0002c0002t0001 a0002c0002t0002 a0002c0002t0008	a0002c0002t0001g0279 a0002c0002t0002g0286 a0002c0002t0008g0285 a0002c0002t0001g0279 a0002c0002t0002g0286 a0002c0002t0008g0285	3	41	0.0732	17	c.-10 others(28): Show c.-1054_-1053insTTTTTTTTTTTTTTTTT	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding		894		chr1	TogoVar
EDARADD_chr1_236389286_236489930	236405790	T T	TTTTTCTT others(10): Show TTTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02523.hp1 HG02809.hp1 others(3): Show HG00673.hp1 HG02523.hp1 HG02809.hp1 NA18973.hp1 NA18989.hp2 NA19063.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0003t0002 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0002 a0002c0002t0001 a0002c0002t0004	a0001c0001t0001g0211 a0001c0001t0004g0167 a0001c0001t0004g0169 others(3): Show a0001c0001t0001g0211 a0001c0001t0004g0167 a0001c0001t0004g0169 a0001c0003t0002g0007 a0002c0002t0001g0260 a0002c0002t0004g0261	6	247	0.0243	17	c.62- others(32): Show c.62-3423_62-3422insTCTTTCTTTCTTTCTTT	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236445234	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01255.hp1 HG01891.hp1 others(5): Show HG00642.hp1 HG01255.hp1 HG01891.hp1 HG01975.hp2 HG01981.hp2 HG02055.hp2 HG02896.hp1 HG04199.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 a0001c0003t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0003c0006t0001	a0001c0001t0001g0150 a0001c0001t0003g0205 a0001c0001t0016g0293 others(5): Show a0001c0001t0001g0150 a0001c0001t0003g0205 a0001c0001t0016g0293 a0001c0003t0001g0037 a0002c0002t0001g0282 a0002c0002t0003g0253 a0002c0002t0004g0243 a0003c0006t0001g0179	8	124	0.0645	17	c.219 others(36): Show c.219+17795_219+17796insTTTTTTTTTTTTTTTTT	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDDM13_chr19_56267748_56315454	56292451	G G	GTTTTTAC others(10): Show GTTTTTACTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	325	0.0031	17	c.232 others(34): Show c.232+1609_232+1625dupTTACTTTTTTTTTTTTT	EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
EDIL3_chr5_83935554_84389880	84252493	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA19083.hp1 HG00423.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0026 a0001c0001t0009g0017 a0001c0001t0001g0026 a0001c0001t0009g0017	2	19	0.1053	17	c.196 others(34): Show c.196+1574_196+1590dupTTTTTTTTTTTTTTTTT	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	2/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84262659	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0060 a0001c0001t0003g0060	1	2	0.5000	17	c.68- others(32): Show c.68-8464_68-8448dupAAAAAAAAAAAAAAAAA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	1/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84385862	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG03098.hp1 HG00639.hp2 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0011 a0001c0003t0005 a0001c0002t0011 a0001c0003t0005	a0001c0002t0011g0001 a0001c0003t0005g0050 a0001c0002t0011g0001 a0001c0003t0005g0050	2	95	0.0211	17	c.-14 others(28): Show c.-1489_-1488insAAAAAAAAAAAAAAAAA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding		983		chr5	TogoVar
EDN3_chr20_59295611_59330992	59306595	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp2 HG02486.hp1 others(1): Show HG02451.hp1 HG02451.hp2 HG02486.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0001 a0001c0001t0002 a0001c0001t0008	a0001c0001t0001g0176 a0001c0001t0002g0195 a0001c0001t0008g0118 others(1): Show a0001c0001t0001g0176 a0001c0001t0002g0195 a0001c0001t0008g0118 a0001c0001t0008g0196	4	217	0.0184	17	c.365 others(34): Show c.365+4881_365+4897dupAAAAAAAAAAAAAAAAA	EDN3	ENSG00000124205.18	transcript	ENST00000337938.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
EDNRA_chr4_147476097_147549954	147504957	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03471.hp2 HG03098.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0018 a0001c0002t0002 a0001c0002t0018	a0001c0002t0002g0098 a0001c0002t0018g0096 a0001c0002t0002g0098 a0001c0002t0018g0096	2	107	0.0187	17	c.421 others(36): Show c.421-14890_421-14874dupAAAAAAAAAAAAAAAAA	EDNRA	ENSG00000151617.17	transcript	ENST00000651419.1	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
EDNRA_chr4_147476097_147549954	147505326	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0263 a0001c0002t0014g0263	1	268	0.0037	17	c.421 others(36): Show c.421-14525_421-14524insTTTTTTTTTTTTTTTTT	EDNRA	ENSG00000151617.17	transcript	ENST00000651419.1	protein_coding	2/7			chr4	TogoVar
EEF1A1_chr6_73510750_73526032	73524788	A A	ATATATAT others(10): Show ATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG02056.hp1 HG00544.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0003	2	325	0.0062	17	c.-38 others(28): Show c.-3820_-3819insATATATATATATATATA	EEF1A1	ENSG00000156508.19	transcript	ENST00000309268.11	protein_coding		3757		chr6	TogoVar
EEF1A1_chr6_73510750_73526032	73524789	T T	TATATATA others(10): Show TATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp1 NA19062.hp2 HG02155.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0036 a0001c0001t0004g0003 a0001c0001t0004g0036	2	214	0.0093	17	c.-38 others(28): Show c.-3821_-3820insTATATATATATATATAT	EEF1A1	ENSG00000156508.19	transcript	ENST00000309268.11	protein_coding		3758		chr6	TogoVar
EEF1AKMT1_chr13_20723731_20778961	20747462	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01099.hp1 HG02145.hp2 others(2): Show HG01069.hp1 HG01099.hp1 HG02145.hp2 HG02280.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0141 others(2): Show a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0148 a0001c0001t0002g0025	5	83	0.0602	17	c.145 others(34): Show c.145-9674_145-9658dupAAAAAAAAAAAAAAAAA	EEF1AKMT1	ENSG00000150456.11	transcript	ENST00000382758.6	protein_coding	2/4			chr13	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769218	C C	CACAAAAA others(10): Show CACAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01515.hp2 HG02976.hp1 others(1): Show HG01123.hp2 HG01515.hp2 HG02976.hp1 NA18968.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0007 a0001c0001t0001 a0002c0002t0007	a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0215 others(1): Show a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0215 a0002c0002t0007g0010	4	196	0.0204	17	c.400 others(34): Show c.400-3611_400-3610insTTTTTTTTTTTTTTTGT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124774406	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	17	0.0588	17	c.399 others(32): Show c.399+268_399+269insCTTTTTTTTTTTTTTTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT3_chr12_57767614_57787541	57778293	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00544.hp1 others(88): Show HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01074.hp2 HG01109.hp2 HG01123.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01891.hp1 HG01934.hp2 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02602.hp2 HG02622.hp1 HG02809.hp1 HG02922.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03927.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA18947.hp2 NA18948.hp1 NA18965.hp1 NA18967.hp2 NA18972.hp1 NA18972.hp2 NA18990.hp1 NA18994.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp2 NA19070.hp2 NA19072.hp2 NA19083.hp1 NA19084.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0002t0004 a0001c0002t0005 a0001c0002t0008	a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0014 others(36): Show a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0018 a0001c0001t0002g0022 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0062 a0001c0001t0002g0081 a0001c0001t0002g0100 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0018 a0001c0001t0003g0022 a0001c0001t0003g0032 a0001c0001t0003g0034 a0001c0001t0003g0068 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0078 a0001c0001t0003g0080 a0001c0001t0006g0003 a0001c0001t0010g0003 a0001c0001t0018g0022 a0001c0001t0019g0003 a0001c0001t0023g0003 a0001c0002t0004g0082 a0001c0002t0004g0083 a0001c0002t0004g0084 a0001c0002t0004g0088 a0001c0002t0005g0091 a0001c0002t0005g0093 a0001c0002t0008g0053 a0001c0002t0008g0096	91	227	0.4009	17	c.290 others(34): Show c.290-1947_290-1946insTTTTTTTTTTTTTTTTT	EEF1AKMT3	ENSG00000123427.17	transcript	ENST00000300209.13	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
EEF1AKMT3_chr12_57767614_57787541	57778307	T T	TTTTTTTT others(10): Show TTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp1 others(92): Show HG00099.hp1 HG00140.hp2 HG00323.hp1 HG00423.hp1 HG00558.hp1 HG00558.hp2 HG00642.hp2 HG01070.hp1 HG01074.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01255.hp1 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02148.hp2 HG02165.hp1 HG02273.hp1 HG02300.hp1 HG02683.hp1 HG02698.hp2 HG02735.hp2 HG03017.hp1 HG03225.hp1 HG03490.hp1 HG03492.hp2 HG03540.hp1 HG03669.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04204.hp2 HG04228.hp2 NA18941.hp1 NA18942.hp1 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18992.hp1 NA18993.hp1 NA18997.hp1 NA18997.hp2 NA19003.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19054.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19063.hp2 NA19065.hp1 NA19070.hp1 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19086.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0005 a0001c0002t0001 a0001c0002t0007 others(3): Show a0001c0001t0005 a0001c0002t0001 a0001c0002t0007 a0001c0002t0011 a0001c0002t0015 a0002c0003t0001	a0001c0001t0005g0039 a0001c0001t0005g0040 a0001c0001t0005g0041 others(19): Show a0001c0001t0005g0039 a0001c0001t0005g0040 a0001c0001t0005g0041 a0001c0002t0001g0001 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0025 a0001c0002t0001g0027 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0007g0001 a0001c0002t0007g0007 a0001c0002t0011g0001 a0001c0002t0015g0001 a0002c0003t0001g0001	95	320	0.2969	17	c.290 others(34): Show c.290-1947_290-1946insTTTTTTTTTTTTTTTCT	EEF1AKMT3	ENSG00000123427.17	transcript	ENST00000300209.13	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
EEF1D_chr8_143574728_143602415	143578315	C C	CCATCCTG others(10): Show CCATCCTGCTCCCGACGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	388	0.0026	17	c.14 others(28): Show c.1460_*1476dupACGTCGGGAGCAGGATG	EEF1D	ENSG00000104529.19	transcript	ENST00000618139.4	protein_coding		1412		chr8	TogoVar
EEF1E1_chr6_8074395_8107548	8101243	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	292	0.0034	17	c.87+ others(32): Show c.87+1191_87+1192insATATTTTTTTTTTTTTT	EEF1E1	ENSG00000124802.12	transcript	ENST00000379715.10	protein_coding	1/3			chr6	TogoVar
EEF1E1_chr6_8074395_8107548	8101243	A A	AAAAAAAA others(10): Show AAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	292	0.0034	17	c.87+ others(32): Show c.87+1191_87+1192insATATATATTTTTTTTTT	EEF1E1	ENSG00000124802.12	transcript	ENST00000379715.10	protein_coding	1/3			chr6	TogoVar
EEF1E1_chr6_8074395_8107548	8101243	A A	AAAAAAAT others(10): Show AAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	292	0.0034	17	c.87+ others(32): Show c.87+1191_87+1192insATATATATATATTTTTT	EEF1E1	ENSG00000124802.12	transcript	ENST00000379715.10	protein_coding	1/3			chr6	TogoVar
EEF1G_chr11_62554596_62578891	62558986	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00639.hp2 HG00642.hp1 others(15): Show HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG01071.hp1 HG01346.hp1 HG01346.hp2 HG02293.hp2 HG02300.hp1 HG02717.hp1 HG02886.hp1 HG02897.hp2 HG03491.hp1 HG03688.hp1 NA18952.hp1 NA18959.hp2 NA18981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0005 a0001c0002t0001g0021 others(7): Show a0001c0002t0001g0003 a0001c0002t0001g0005 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0031 a0001c0002t0001g0051 a0001c0002t0001g0054 a0001c0002t0001g0057 a0001c0002t0001g0061 a0001c0002t0001g0127	18	199	0.0905	17	c.69 others(26): Show c.692_*693insTTTTTTTTTTTTTTTTT	EEF1G	ENSG00000254772.10	transcript	ENST00000329251.5	protein_coding		609		chr11	TogoVar
EEF2K_chr16_22201278_22293738	22289399	T T	TAAATAAA others(10): Show TAAATAAATAAATAAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp2 HG02622.hp1 others(5): Show HG02559.hp1 HG02559.hp2 HG02622.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03516.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0009 a0001c0002t0005 a0001c0002t0023 others(1): Show a0001c0001t0009 a0001c0002t0005 a0001c0002t0023 a0003c0004t0005	a0001c0001t0009g0027 a0001c0002t0005g0055 a0001c0002t0005g0071 others(5): Show a0001c0001t0009g0027 a0001c0002t0005g0055 a0001c0002t0005g0071 a0001c0002t0023g0218 a0003c0004t0005g0002 a0003c0004t0005g0005 a0003c0004t0005g0006 a0003c0004t0005g0008	8	276	0.0290	17	c.54 others(28): Show c.5403_*5404insAAATAAATAAATAAATA	EEF2K	ENSG00000103319.12	transcript	ENST00000263026.10	protein_coding		662		chr16	TogoVar
EEF2_chr19_3971056_3990463	3972813	C C	CAGCTACT others(10): Show CAGCTACTCGGGAGGCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0001 a0002c0014t0001	a0002c0014t0001g0074 a0002c0014t0001g0074	1	402	0.0025	17	c.37 others(28): Show c.3740_*3741insTAGCCTCCCGAGTAGCT	EEF2	ENSG00000167658.16	transcript	ENST00000309311.7	protein_coding		3242		chr19	TogoVar
EEFSEC_chr3_128148481_128413646	128273365	G G	GGAACTCA others(10): Show GGAACTCAGGAAGACTTC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01255.hp2 HG02055.hp1 others(3): Show HG01109.hp2 HG01255.hp2 HG02055.hp1 HG02451.hp2 HG02559.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0038 a0001c0003t0001g0203 a0001c0003t0001g0204 others(3): Show a0001c0002t0001g0038 a0001c0003t0001g0203 a0001c0003t0001g0204 a0001c0003t0001g0205 a0001c0003t0001g0206 a0001c0003t0001g0207	6	270	0.0222	17	c.786 others(34): Show c.786+8585_786+8601dupGAACTCAGGAAGACTTC	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
EEIG1_chr9_127935582_127985989	127970795	C C	CGCCCTTG others(10): Show CGCCCTTGCCGTGCCTCT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00544.hp2 others(181): Show HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00741.hp1 HG01069.hp2 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18940.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18962.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp2 NA18982.hp1 NA18986.hp1 NA18988.hp1 NA18991.hp1 NA18994.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19009.hp1 NA19012.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19068.hp2 NA19074.hp1 NA19083.hp2 NA19084.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007	a0001c0001t0001 a0001c0001t0010 a0001c0001t0011 others(15): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0029 a0001c0001t0030 a0001c0002t0003 a0001c0003t0004 a0001c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(121): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0010g0201 a0001c0001t0010g0219 a0001c0001t0011g0031 a0001c0001t0012g0046 a0001c0001t0014g0093 a0001c0001t0019g0107 a0001c0001t0020g0166 a0001c0001t0021g0229 a0001c0001t0022g0155 a0001c0001t0023g0156 a0001c0001t0024g0226 a0001c0001t0025g0199 a0001c0001t0026g0154 a0001c0001t0029g0182 a0001c0001t0030g0171 a0001c0002t0003g0120 a0001c0002t0003g0212 a0001c0003t0004g0210 a0001c0007t0001g0204	184	340	0.5412	17	c.146 others(34): Show c.146+9180_146+9196dupAGAGGCACGGCAAGGGC	EEIG1	ENSG00000167106.12	transcript	ENST00000373095.6	protein_coding	1/10			chr9	TogoVar
EEPD1_chr7_36148254_36306538	36151852	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0326 a0001c0001t0024g0326	1	57	0.0175	17	c.-20 others(28): Show c.-2015_-2014insTTTTTTTTTTTTTTTTT	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding		1401		chr7	TogoVar
EEPD1_chr7_36148254_36306538	36183888	T T	TTTTTTTT others(10): Show TTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0065 a0001c0001t0033g0065	1	13	0.0769	17	c.878 others(36): Show c.878+28686_878+28687insTTTTTTTTTTTTTTTTG	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	2/7			chr7	TogoVar
EEPD1_chr7_36148254_36306538	36198337	G G	GAAAAGAA others(10): Show GAAAAGAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00438.hp2 others(70): Show HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01099.hp2 HG01192.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01515.hp1 HG01516.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG02040.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02132.hp2 HG02300.hp2 HG02486.hp2 HG02615.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp2 HG02970.hp2 HG03041.hp2 HG03453.hp2 HG03486.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03942.hp2 HG04184.hp1 HG04228.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18951.hp2 NA18952.hp2 NA18967.hp2 NA18970.hp2 NA18971.hp2 NA18978.hp2 NA18979.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18998.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19011.hp1 NA19012.hp1 NA19056.hp1 NA19058.hp1 NA19062.hp1 NA19079.hp2 NA19082.hp1 NA19085.hp2 NA19240.hp1 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0008 a0003c0002 a0001c0001 a0001c0008 a0003c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0027 a0001c0001t0031 a0001c0001t0041 a0001c0001t0045 a0001c0001t0049 a0001c0001t0050 a0001c0001t0055 a0001c0001t0056 a0001c0001t0064 a0001c0001t0068 a0001c0001t0069 a0001c0008t0011 a0003c0002t0017 a0003c0002t0034 a0003c0002t0040	a0001c0001t0001g0080 a0001c0001t0001g0089 a0001c0001t0001g0123 others(70): Show a0001c0001t0001g0080 a0001c0001t0001g0089 a0001c0001t0001g0123 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0250 a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0001g0275 a0001c0001t0002g0083 a0001c0001t0002g0118 a0001c0001t0002g0124 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0146 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0167 a0001c0001t0002g0254 a0001c0001t0002g0265 a0001c0001t0002g0267 a0001c0001t0002g0274 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0003g0333 a0001c0001t0004g0213 a0001c0001t0005g0038 a0001c0001t0005g0039 a0001c0001t0005g0040 a0001c0001t0006g0070 a0001c0001t0006g0093 a0001c0001t0006g0205 a0001c0001t0007g0020 a0001c0001t0007g0024 a0001c0001t0007g0025 a0001c0001t0007g0029 a0001c0001t0007g0053 a0001c0001t0008g0126 a0001c0001t0008g0198 a0001c0001t0008g0224 a0001c0001t0009g0303 a0001c0001t0010g0194 a0001c0001t0010g0200 a0001c0001t0013g0219 a0001c0001t0013g0234 a0001c0001t0027g0056 a0001c0001t0031g0325 a0001c0001t0041g0058 a0001c0001t0045g0003 a0001c0001t0049g0225 a0001c0001t0050g0223 a0001c0001t0055g0154 a0001c0001t0056g0076 a0001c0001t0064g0273 a0001c0001t0068g0305 a0001c0001t0069g0312 a0001c0008t0011g0048 a0003c0002t0017g0049 a0003c0002t0034g0071 a0003c0002t0040g0041	73	333	0.2192	17	c.879 others(36): Show c.879-40639_879-40623dupAAAAAAAAAAAAAGAAA	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
EEPD1_chr7_36148254_36306538	36198343	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0136 a0001c0001t0003g0136	1	325	0.0031	17	c.879 others(36): Show c.879-40627_879-40626insAGAAAAAAAAAAAAAAA	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
EFCAB13_chr17_47318955_47446312	47390914	G G	GTCTTATC others(10): Show GTCTTATCTATCTGTCTA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02976.hp2 HG03486.hp1 HG02647.hp2 HG02976.hp2 HG03486.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0049 a0008c0011t0001g0050 a0008c0011t0001g0054 a0008c0011t0001g0049 a0008c0011t0001g0050 a0008c0011t0001g0054	3	156	0.0192	17	c.158 others(34): Show c.1583-520_1583-519insTATCTATCTGTCTATCT	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB13_chr17_47318955_47446312	47424874	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01243.hp1 HG02135.hp1 others(10): Show HG00673.hp2 HG01243.hp1 HG02135.hp1 HG02257.hp2 HG02622.hp2 HG03579.hp1 HG06807.hp2 NA18962.hp2 NA18991.hp2 NA18995.hp1 NA19005.hp1 NA19064.hp1 NA21309.hp2	a0001 a0002 a0017 a0001 a0002 a0017	a0001c0001 a0002c0002 a0017c0026 a0001c0001 a0002c0002 a0017c0026	a0001c0001t0001 a0002c0002t0001 a0017c0026t0001 a0001c0001t0001 a0002c0002t0001 a0017c0026t0001	a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0111 others(10): Show a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0123 a0001c0001t0001g0137 a0001c0001t0001g0143 a0001c0001t0001g0152 a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0001g0172 a0001c0001t0001g0177 a0002c0002t0001g0263 a0017c0026t0001g0164	13	55	0.2364	17	c.249 others(36): Show c.2495-4934_2495-4918dupTTTTTTTTTTTTTTTTT	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	23/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB2_chr1_244964682_245092837	244980040	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01106.hp1 HG03831.hp2 others(2): Show HG00423.hp1 HG01106.hp1 HG03831.hp2 NA18966.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0053 a0001c0001t0001g0087 a0001c0001t0001g0106 others(2): Show a0001c0001t0001g0053 a0001c0001t0001g0087 a0001c0001t0001g0106 a0001c0001t0003g0021 a0001c0001t0003g0052	5	37	0.1351	17	c.25+ others(32): Show c.25+9610_25+9626dupAAAAAAAAAAAAAAAAA	EFCAB2	ENSG00000203666.13	transcript	ENST00000366523.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
EFCAB6_chr22_43523778_43817305	43548539	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0001 a0001c0027t0001	a0001c0027t0001g0075 a0001c0027t0001g0075	1	66	0.0152	17	c.364 others(36): Show c.3648+6313_3648+6329dupTTTTTTTTTTTTTTTTT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	27/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43586340	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	47	0.0213	17	c.303 others(36): Show c.3032+3717_3032+3733dupAAAAAAAAAAAAAAAAA	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	24/31			chr22	TogoVar
EFCAB8_chr20_32853923_32966845	32875502	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0102 a0002c0011t0001g0102	1	189	0.0053	17	c.209 others(32): Show c.209-422_209-406dupTTTTTTTTTTTTTTTTT	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
EFCAB8_chr20_32853923_32966845	32905759	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA19064.hp1 NA19085.hp1 HG02886.hp2 NA19064.hp1 NA19085.hp1	a0003 a0009 a0003 a0009	a0003c0003 a0009c0023 a0003c0003 a0009c0023	a0003c0003t0001 a0009c0023t0001 a0003c0003t0001 a0009c0023t0001	a0003c0003t0001g0125 a0003c0003t0001g0203 a0009c0023t0001g0127 a0003c0003t0001g0125 a0003c0003t0001g0203 a0009c0023t0001g0127	3	116	0.0259	17	c.108 others(34): Show c.1089-789_1089-788insAAAAAAAAAAAAAAAAA	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	11/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
EFCAB8_chr20_32853923_32966845	32935188	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03540.hp1 HG02280.hp1 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0225 a0002c0002t0003g0267 a0002c0002t0003g0225 a0002c0002t0003g0267	2	166	0.0120	17	c.279 others(36): Show c.2790+3855_2790+3856insTTTTTTTTTTTTTTTTT	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
EFCAB8_chr20_32853923_32966845	32935192	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02922.hp2 NA18966.hp1 others(1): Show HG01891.hp2 HG02922.hp2 NA18966.hp1 NA20129.hp1	a0011 a0024 a0042 others(1): Show a0011 a0024 a0042 a0051	a0011c0009 a0024c0032 a0042c0067 others(1): Show a0011c0009 a0024c0032 a0042c0067 a0051c0068	a0011c0009t0004 a0024c0032t0004 a0042c0067t0004 others(1): Show a0011c0009t0004 a0024c0032t0004 a0042c0067t0004 a0051c0068t0004	a0011c0009t0004g0122 a0024c0032t0004g0275 a0042c0067t0004g0193 others(1): Show a0011c0009t0004g0122 a0024c0032t0004g0275 a0042c0067t0004g0193 a0051c0068t0004g0218	4	118	0.0339	17	c.279 others(36): Show c.2790+3865_2790+3881dupTTTTTTTTTTTTTTTTT	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
EFEMP1_chr2_55860967_55928782	55904966	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0292 a0001c0004t0010g0292	1	335	0.0030	17	c.517 others(36): Show c.517+12698_517+12699insAAAAAAAAAAAAAAAAA	EFEMP1	ENSG00000115380.20	transcript	ENST00000355426.8	protein_coding	5/11			chr2	TogoVar

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