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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
EMCN_chr4_100390341_100523022	100448795	T T	TTTTCTTT others(17): Show TTTTCTTTCTTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02451.hp2 HG02559.hp1 others(7): Show HG01070.hp2 HG02451.hp2 HG02559.hp1 HG02615.hp1 HG02818.hp2 HG02976.hp2 HG03139.hp2 HG03516.hp2 NA18906.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0005 a0001c0001t0030 a0001c0008t0005 a0001c0001t0005 a0001c0001t0030 a0001c0008t0005	a0001c0001t0005g0173 a0001c0001t0005g0174 a0001c0001t0005g0191 others(7): Show a0001c0001t0005g0173 a0001c0001t0005g0174 a0001c0001t0005g0191 a0001c0001t0005g0192 a0001c0001t0005g0199 a0001c0001t0005g0200 a0001c0001t0005g0201 a0001c0001t0005g0208 a0001c0001t0030g0190 a0001c0008t0005g0197	10	262	0.0382	24	c.377 others(41): Show c.377-1225_377-1224insGAAGGAAGGAAGGAAAGAAAGAAA		EMCN	ENSG00000164035.10	transcript	ENST00000296420.9	protein_coding	4/11						chr4	TogoVar
EMILIN2_chr18_2842006_2921003	2858583	G G	GTGTGTGT others(17): Show GTGTGTGTGTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0028 a0001c0008t0028	a0001c0008t0028g0209 a0001c0008t0028g0209	1	452	0.0022	24	c.257 others(43): Show c.257+10653_257+10654insGTGTGTGTGTGTGTATATATATAT		EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr18	TogoVar
EMILIN2_chr18_2842006_2921003	2858583	G G	GTGTGTGT others(17): Show GTGTGTGTGTGTGTGTGTATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0004 a0002c0009t0004	a0002c0009t0004g0260 a0002c0009t0004g0260	1	452	0.0022	24	c.257 others(43): Show c.257+10653_257+10654insGTGTGTGTGTGTGTGTATATATAT		EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr18	TogoVar
EML1_chr14_99788413_99947060	99838918	C C	CGCGCGCG others(17): Show CGCGCGCGCGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01175.hp2 HG01515.hp1 others(2): Show HG01109.hp2 HG01175.hp2 HG01515.hp1 HG02280.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0001 a0002c0001t0002 a0002c0001t0003 others(1): Show a0001c0003t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0015	a0001c0003t0001g0012 a0001c0003t0001g0233 a0002c0001t0002g0118 others(2): Show a0001c0003t0001g0012 a0001c0003t0001g0233 a0002c0001t0002g0118 a0002c0001t0003g0121 a0002c0001t0015g0109	5	288	0.0174	24	c.68- others(41): Show c.68-11934_68-11933insCGCGCGCGTGTGTGTGTGTGTGTG		EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99838918	C C	CGCGCGCG others(17): Show CGCGCGCGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01168.hp2 HG01169.hp2 others(7): Show HG00544.hp2 HG01168.hp2 HG01169.hp2 HG01255.hp1 HG01884.hp2 HG02071.hp2 HG02074.hp1 HG04115.hp2 NA18966.hp2 NA20905.hp2	a0002 a0003 a0002 a0003	a0002c0001 a0003c0015 a0002c0001 a0003c0015	a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 others(1): Show a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0003c0015t0001	a0002c0001t0001g0092 a0002c0001t0002g0052 a0002c0001t0002g0072 others(7): Show a0002c0001t0001g0092 a0002c0001t0002g0052 a0002c0001t0002g0072 a0002c0001t0002g0081 a0002c0001t0002g0110 a0002c0001t0002g0129 a0002c0001t0002g0182 a0002c0001t0003g0137 a0002c0001t0003g0236 a0003c0015t0001g0013	10	288	0.0347	24	c.68- others(41): Show c.68-11934_68-11933insCGCGCGTGTGTGTGTGTGTGTGTG		EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99838918	C C	CGCGCGTG others(17): Show CGCGCGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00423.hp2 others(11): Show HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00733.hp2 HG01123.hp1 HG01243.hp2 HG01943.hp2 HG02273.hp1 HG02486.hp1 NA18991.hp1 NA18994.hp1 NA18999.hp2 NA19088.hp1 NA20752.hp1	a0002 a0003 a0002 a0003	a0002c0001 a0003c0002 a0002c0001 a0003c0002	a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 others(2): Show a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0003c0002t0001 a0003c0002t0002	a0002c0001t0001g0062 a0002c0001t0002g0026 a0002c0001t0002g0045 others(11): Show a0002c0001t0001g0062 a0002c0001t0002g0026 a0002c0001t0002g0045 a0002c0001t0002g0067 a0002c0001t0002g0069 a0002c0001t0002g0095 a0002c0001t0002g0101 a0002c0001t0002g0122 a0002c0001t0002g0173 a0002c0001t0003g0134 a0002c0001t0003g0139 a0002c0001t0003g0142 a0003c0002t0001g0100 a0003c0002t0002g0050	14	288	0.0486	24	c.68- others(41): Show c.68-11934_68-11933insCGCGTGTGTGTGTGTGTGTGTGTG		EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99838930	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0054 a0003c0002t0001g0054	1	288	0.0035	24	c.68- others(41): Show c.68-11922_68-11921insTGTGTGTGTGTGTGTGTGTGCGCG		EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99874578	T T	TGTCTTGT others(17): Show TGTCTTGTCTTTAAGCTTTATTTTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp2 HG03130.hp2 others(3): Show HG02055.hp1 HG02451.hp2 HG03130.hp2 HG03209.hp1 HG03540.hp1 HG03579.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0005 a0001c0004t0010 others(1): Show a0001c0004t0001 a0001c0004t0005 a0001c0004t0010 a0001c0004t0013	a0001c0004t0001g0123 a0001c0004t0001g0248 a0001c0004t0001g0255 others(3): Show a0001c0004t0001g0123 a0001c0004t0001g0248 a0001c0004t0001g0255 a0001c0004t0005g0242 a0001c0004t0010g0235 a0001c0004t0013g0108	6	288	0.0208	24	c.384 others(41): Show c.384-3906_384-3883dupGTCTTGTCTTTAAGCTTTATTTTC		EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	3/21					INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99928014	G G	GTGGTGGT others(17): Show GTGGTGGTGATGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0138 a0003c0002t0002g0138	1	288	0.0035	24	c.190 others(43): Show c.1909+7145_1909+7146insATGGTGGTGGTGGTGATGGTGGTG		EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99928092	G G	GTGGTGGT others(17): Show GTGGTGGTGATGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19084.hp1 NA19063.hp2 NA19084.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0171 a0003c0002t0001g0172 a0003c0002t0001g0171 a0003c0002t0001g0172	2	288	0.0069	24	c.190 others(43): Show c.1909+7223_1909+7224insATGGTGGTGGTGGTGATGGTGGTG		EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99928110	G G	GTGGTGAT others(17): Show GTGGTGATGGTGGTGATGGTGGTGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02723.hp1 HG03098.hp1 others(1): Show HG02109.hp1 HG02723.hp1 HG03098.hp1 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0006 a0001c0003t0001g0007 a0001c0003t0001g0016 others(1): Show a0001c0003t0001g0006 a0001c0003t0001g0007 a0001c0003t0001g0016 a0001c0003t0001g0020	4	288	0.0139	24	c.190 others(43): Show c.1909+7238_1909+7239insATGGTGGTGATGGTGGTGATGGTG		EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr14	TogoVar
EML4_chr2_42164353_42337548	42245094	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01169.hp2 HG01928.hp2 others(9): Show HG01109.hp1 HG01169.hp2 HG01928.hp2 HG02486.hp1 HG02818.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03669.hp2 NA18953.hp2 NA19004.hp1 NA19010.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0009 a0003c0003 a0001c0001 a0001c0009 a0003c0003	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0009t0002 a0003c0003t0004	a0001c0001t0002g0217 a0001c0001t0002g0239 a0001c0001t0005g0312 others(9): Show a0001c0001t0002g0217 a0001c0001t0002g0239 a0001c0001t0005g0312 a0001c0001t0005g0313 a0001c0001t0005g0319 a0001c0001t0005g0328 a0001c0001t0005g0330 a0001c0001t0005g0335 a0001c0001t0006g0199 a0001c0001t0006g0347 a0001c0009t0002g0198 a0003c0003t0004g0247	12	358	0.0335	24	c.26- others(37): Show c.26-393_26-392insTTTTTTTTTTTTTTTTTTTTTTTT		EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
EML4_chr2_42164353_42337548	42325602	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02074.hp2 HG02145.hp2 others(3): Show HG00438.hp1 HG02074.hp2 HG02145.hp2 NA18612.hp1 NA18959.hp1 NA18963.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0004 a0003c0003t0002 a0003c0003t0004	a0003c0003t0002g0215 a0003c0003t0002g0232 a0003c0003t0002g0233 others(3): Show a0003c0003t0002g0215 a0003c0003t0002g0232 a0003c0003t0002g0233 a0003c0003t0002g0253 a0003c0003t0002g0297 a0003c0003t0004g0249	6	358	0.0168	24	c.224 others(39): Show c.2242+62_2242+85dupATATATATATATATATATATATAT		EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	20/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
EML5_chr14_88607431_88797953	88745167	T T	TTGTTTGT others(17): Show TTGTTTGTTTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01257.hp1 HG02615.hp2 others(2): Show HG01243.hp1 HG01257.hp1 HG02615.hp2 HG03579.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 others(2): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 a0001c0001t0024 a0001c0001t0036	a0001c0001t0002g0158 a0001c0001t0006g0287 a0001c0001t0011g0215 others(2): Show a0001c0001t0002g0158 a0001c0001t0006g0287 a0001c0001t0011g0215 a0001c0001t0024g0207 a0001c0001t0036g0205	5	332	0.0151	24	c.456 others(41): Show c.456+1017_456+1018insCACACACACACACACAAACAAACA		EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding	3/43						chr14	TogoVar
EML6_chr2_54718662_54977025	54797164	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0061 a0001c0002t0004g0061	1	264	0.0038	24	c.198 others(43): Show c.198-16066_198-16043dupAAAAAAAAAAAAAAAAAAAAAAAA		EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	2/41					INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54797166	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02080.hp2 HG02258.hp2 HG01891.hp2 HG02080.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0002t0006 a0001c0001t0001 a0001c0002t0004 a0001c0002t0006	a0001c0001t0001g0248 a0001c0002t0004g0028 a0001c0002t0006g0003 a0001c0001t0001g0248 a0001c0002t0004g0028 a0001c0002t0006g0003	3	264	0.0114	24	c.198 others(43): Show c.198-16065_198-16042dupAAAAAAAAAAAAAAAAAAAAAAAC		EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	2/41					INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54823850	T T	TTCTCTCT others(17): Show TTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01975.hp2 HG03017.hp2 others(1): Show HG01496.hp2 HG01975.hp2 HG03017.hp2 HG06807.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0032 a0001c0001 a0007c0032	a0001c0001t0001 a0001c0001t0007 a0001c0001t0019 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0019 a0007c0032t0053	a0001c0001t0001g0209 a0001c0001t0007g0180 a0001c0001t0019g0169 others(1): Show a0001c0001t0001g0209 a0001c0001t0007g0180 a0001c0001t0019g0169 a0007c0032t0053g0165	4	264	0.0152	24	c.525 others(41): Show c.525+3392_525+3415dupCTCTCTCTCTCTCTCTCTCTCTCT		EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	5/41					INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54823868	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03041.hp1 HG03225.hp2 others(2): Show HG02630.hp1 HG03041.hp1 HG03225.hp2 NA19043.hp2 NA21309.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0009c0033 a0001c0001 a0001c0002 a0009c0033	a0001c0001t0014 a0001c0002t0006 a0001c0002t0010 others(1): Show a0001c0001t0014 a0001c0002t0006 a0001c0002t0010 a0009c0033t0006	a0001c0001t0014g0009 a0001c0002t0006g0006 a0001c0002t0006g0263 others(2): Show a0001c0001t0014g0009 a0001c0002t0006g0006 a0001c0002t0006g0263 a0001c0002t0010g0010 a0009c0033t0006g0005	5	264	0.0189	24	c.525 others(41): Show c.525+3415_525+3416insCTCTCTCTCTCTCTTTCTCTCTCT		EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	5/41					INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54848524	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 NA18951.hp2 NA18971.hp1 others(1): Show HG00738.hp1 NA18951.hp2 NA18971.hp1 NA18999.hp2	a0001 a0001	a0001c0003 a0001c0010 a0001c0003 a0001c0010	a0001c0003t0002 a0001c0003t0004 a0001c0010t0050 a0001c0003t0002 a0001c0003t0004 a0001c0010t0050	a0001c0003t0002g0153 a0001c0003t0004g0196 a0001c0003t0004g0197 others(1): Show a0001c0003t0002g0153 a0001c0003t0004g0196 a0001c0003t0004g0197 a0001c0010t0050g0226	4	264	0.0152	24	c.118 others(41): Show c.1187+905_1187+928dupCACACACACACACACACACACACA		EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	9/41					INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54882857	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18948.hp2 NA18966.hp1 others(3): Show HG02040.hp2 NA18948.hp2 NA18966.hp1 NA18983.hp2 NA19054.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0011 a0001c0001t0001 a0001c0003t0011	a0001c0001t0001g0076 a0001c0001t0001g0178 a0001c0001t0001g0183 others(3): Show a0001c0001t0001g0076 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0223 a0001c0003t0011g0115	6	264	0.0227	24	c.243 others(43): Show c.2438+3234_2438+3235insAAAAAAAAAAAAAAAAAAAAAAAA		EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	17/41					INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54882873	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0127 a0001c0002t0023g0127	1	264	0.0038	24	c.243 others(43): Show c.2438+3234_2438+3235insAAAAAAAAAAAAAAAAAAAAAAGA		EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	17/41					INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54944559	T T	TTTGTACT others(17): Show TTTGTACTCTCATTTTTTCACCCAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0127 a0001c0002t0023g0127	1	264	0.0038	24	c.400 others(43): Show c.4005-4322_4005-4299dupTTGTACTCTCATTTTTTCACCCAA		EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	28/41					INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54951480	G G	GGTTGCAG others(17): Show GGTTGCAGTGAGCCAAGATCGCGCC	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0047 a0001c0005t0007g0047	1	264	0.0038	24	c.421 others(41): Show c.4213+702_4213+725dupGTTGCAGTGAGCCAAGATCGCGCC		EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	30/41					INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54961184	G G	GTTGTTTT others(17): Show GTTGTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01106.hp2 HG02886.hp1 others(7): Show HG01069.hp2 HG01106.hp2 HG02886.hp1 HG02895.hp1 HG02976.hp2 HG03669.hp1 HG03704.hp1 HG04199.hp2 NA18612.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0015	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 a0001c0004t0001 a0001c0004t0003 a0001c0005t0040 a0001c0007t0029 a0001c0015t0001	a0001c0001t0001g0225 a0001c0001t0003g0096 a0001c0002t0001g0214 others(7): Show a0001c0001t0001g0225 a0001c0001t0003g0096 a0001c0002t0001g0214 a0001c0002t0001g0218 a0001c0002t0003g0114 a0001c0004t0001g0079 a0001c0004t0003g0118 a0001c0005t0040g0094 a0001c0007t0029g0103 a0001c0015t0001g0030	10	264	0.0379	24	c.496 others(41): Show c.4968+852_4968+853insGTTTTTTTTTTTTTTTTTTTTTTT		EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	35/41					INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54961184	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0057 a0001c0022t0057	a0001c0022t0057g0262 a0001c0022t0057g0262	1	264	0.0038	24	c.496 others(41): Show c.4968+869_4968+870insTTTTTTTTTTTTTTTTTTTTTTTT		EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	35/41					INFO_REALIGN_3_PRIME	chr2	TogoVar
EMP1_chr12_13191726_13224941	13195108	T T	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG00735.hp1 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0103 a0001c0001t0002g0005 a0001c0001t0001g0103 a0001c0001t0002g0005	2	444	0.0045	24	c.-18 others(35): Show c.-1807_-1806insTGTGTGTGTGTGTGTGTGTGTGTG		EMP1	ENSG00000134531.10	transcript	ENST00000256951.10	protein_coding					1617		chr12	TogoVar
EMP2_chr16_10523422_10585598	10540507	A A	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0260 a0001c0002t0002g0260	1	402	0.0025	24	c.170 others(41): Show c.170-2434_170-2433insATTTATTTATTTATTTATTTATTT		EMP2	ENSG00000213853.10	transcript	ENST00000359543.8	protein_coding	3/4						chr16	TogoVar
EMP2_chr16_10523422_10585598	10575237	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03490.hp1 NA18957.hp1 NA18960.hp1 others(2): Show HG03490.hp1 NA18957.hp1 NA18960.hp1 NA18980.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0001t0035 a0001c0002t0002 others(1): Show a0001c0001t0009 a0001c0001t0035 a0001c0002t0002 a0001c0002t0031	a0001c0001t0009g0067 a0001c0001t0009g0068 a0001c0001t0035g0124 others(2): Show a0001c0001t0009g0067 a0001c0001t0009g0068 a0001c0001t0035g0124 a0001c0002t0002g0069 a0001c0002t0031g0070	5	402	0.0124	24	c.-61 others(41): Show c.-61+5288_-61+5311dupAAAAAAAAAAAAAAAAAAAAAAAA		EMP2	ENSG00000213853.10	transcript	ENST00000359543.8	protein_coding	1/4						chr16	TogoVar
EMSY_chr11_76440018_76558031	76446319	G G	GTGTATAT others(17): Show GTGTATATATATATGTATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00609.hp2 others(59): Show HG00099.hp2 HG00280.hp2 HG00609.hp2 HG00733.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01243.hp1 HG01256.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01884.hp2 HG02129.hp2 HG02155.hp2 HG02165.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02717.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03195.hp2 HG03490.hp2 HG03516.hp2 HG03688.hp1 HG03710.hp2 HG03834.hp1 HG03942.hp2 HG06807.hp1 NA18906.hp2 NA18956.hp2 NA18974.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp2 NA19001.hp2 NA19005.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp2 NA20129.hp2 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0002t0024	a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 others(58): Show a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0356 a0001c0001t0002g0004 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0009g0002 a0001c0001t0009g0277 a0001c0002t0024g0064	62	360	0.1722	24	c.-39 others(39): Show c.-39-578_-39-577insATATATATATGTATATATATATGT		EMSY	ENSG00000158636.17	transcript	ENST00000695367.1	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr11	TogoVar
ENDOV_chr17_80410167_80443086	80421260	A A	ATCCCAGG others(17): Show ATCCCAGGGAATCCTACAGACCAGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp1 others(169): Show HG00099.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01516.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG03017.hp1 HG03041.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18965.hp2 NA18970.hp1 NA18973.hp1 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18985.hp2 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp2 NA18993.hp2 NA18998.hp1 NA18999.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19056.hp2 NA19058.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19067.hp2 NA19070.hp1 NA19076.hp2 NA19077.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19084.hp1 NA19091.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2	a0001 a0002 a0004 others(7): Show a0001 a0002 a0004 a0005 a0006 a0007 a0010 a0011 a0012 a0013	a0001c0001 a0002c0002 a0004c0004 others(7): Show a0001c0001 a0002c0002 a0004c0004 a0005c0005 a0006c0007 a0007c0008 a0010c0011 a0011c0012 a0012c0015 a0013c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0024 a0001c0001t0028 a0001c0001t0032 a0001c0001t0035 a0002c0002t0002 a0002c0002t0004 a0002c0002t0008 a0002c0002t0009 a0002c0002t0018 a0002c0002t0022 a0004c0004t0007 a0004c0004t0010 a0004c0004t0014 a0005c0005t0002 a0005c0005t0011 a0005c0005t0033 a0006c0007t0001 a0007c0008t0003 a0007c0008t0006 a0010c0011t0002 a0011c0012t0002 a0012c0015t0004 a0013c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0017 others(119): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0044 a0001c0001t0001g0091 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0230 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0002g0011 a0001c0001t0002g0027 a0001c0001t0002g0043 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0168 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0189 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0196 a0001c0001t0002g0205 a0001c0001t0002g0218 a0001c0001t0002g0224 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0003g0197 a0001c0001t0003g0202 a0001c0001t0003g0210 a0001c0001t0003g0215 a0001c0001t0003g0217 a0001c0001t0003g0220 a0001c0001t0003g0226 a0001c0001t0004g0016 a0001c0001t0004g0051 a0001c0001t0004g0201 a0001c0001t0004g0204 a0001c0001t0004g0222 a0001c0001t0009g0203 a0001c0001t0009g0208 a0001c0001t0009g0232 a0001c0001t0010g0276 a0001c0001t0012g0060 a0001c0001t0012g0279 a0001c0001t0014g0094 a0001c0001t0014g0277 a0001c0001t0014g0278 a0001c0001t0016g0269 a0001c0001t0019g0054 a0001c0001t0024g0017 a0001c0001t0028g0055 a0001c0001t0032g0016 a0001c0001t0035g0011 a0002c0002t0002g0015 a0002c0002t0002g0050 a0002c0002t0002g0182 a0002c0002t0002g0185 a0002c0002t0002g0188 a0002c0002t0004g0180 a0002c0002t0008g0045 a0002c0002t0008g0047 a0002c0002t0008g0174 a0002c0002t0008g0176 a0002c0002t0008g0181 a0002c0002t0008g0187 a0002c0002t0009g0175 a0002c0002t0009g0183 a0002c0002t0009g0184 a0002c0002t0009g0268 a0002c0002t0018g0048 a0002c0002t0022g0015 a0004c0004t0007g0165 a0004c0004t0010g0042 a0004c0004t0010g0166 a0004c0004t0010g0167 a0004c0004t0014g0164 a0005c0005t0002g0178 a0005c0005t0002g0266 a0005c0005t0011g0265 a0005c0005t0011g0267 a0005c0005t0033g0264 a0006c0007t0001g0001 a0006c0007t0001g0017 a0006c0007t0001g0211 a0006c0007t0001g0272 a0007c0008t0003g0231 a0007c0008t0003g0233 a0007c0008t0006g0229 a0010c0011t0002g0015 a0011c0012t0002g0186 a0012c0015t0004g0213 a0013c0013t0001g0090	172	420	0.4095	24	c.229 others(39): Show c.229-564_229-563insAGGGAATCCTACAGACCAGGTCCC		ENDOV	ENSG00000173818.17	transcript	ENST00000518137.6	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr17	TogoVar
ENKUR_chr10_24976985_25021158	25020238	A A	ATATATCT others(17): Show ATATATCTATATCTATATCTATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02976.hp1 HG03225.hp1 others(1): Show HG02109.hp1 HG02976.hp1 HG03225.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0095 a0001c0001t0010g0228 a0001c0001t0010g0230 others(1): Show a0001c0001t0001g0095 a0001c0001t0010g0228 a0001c0001t0010g0230 a0001c0001t0010g0231	4	384	0.0104	24	c.-43 others(35): Show c.-4326_-4303dupGATATAGATATAGATATAGATATA		ENKUR	ENSG00000151023.17	transcript	ENST00000331161.9	protein_coding					4081		chr10	TogoVar
ENO3_chr17_4946119_4962129	4952833	G G	GTAGCTTG others(17): Show GTAGCTTGGCTGGAACTAAGAGACA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18985.hp2 NA18985.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0055 a0009c0010t0001g0055	1	440	0.0023	24	c.124 others(31): Show c.124_125insTAGCTTGGCTGGAACTAAGAGACA	p.Gly others(35): Show p.Gly42delinsValAlaTrpLeuGluLeuArgAspSer	ENO3	ENSG00000108515.18	transcript	ENST00000519602.6	protein_coding	3/12	191/1453	125/1305	42/434			chr17	TogoVar
ENOSF1_chr18_665318_717630	667005	T T	TGATGGTG others(17): Show TGATGGTGATGGTGATGGTGATGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0380 a0003c0007t0002g0380	1	418	0.0024	24	c.72 others(35): Show c.7299_*7300insTCCATCACCATCACCATCACCATC		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					3312		chr18	TogoVar
ENOSF1_chr18_665318_717630	667029	T T	TGATGGCG others(17): Show TGATGGCGATGGAGATGGAGATGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0357 a0003c0004t0004g0357	1	418	0.0024	24	c.72 others(35): Show c.7275_*7276insTCCATCTCCATCTCCATCGCCATC		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					3288		chr18	TogoVar
ENOX1_chr13_43208130_43791972	43417242	C C	CGGGAGAG others(17): Show CGGGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA21309.hp1 NA18961.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0004 a0001c0001t0010	a0001c0001t0004g0089 a0001c0001t0010g0087 a0001c0001t0004g0089 a0001c0001t0010g0087	2	188	0.0106	24	c.-74 others(41): Show c.-74-4278_-74-4255dupTCTCCCTCTCCCTCTCCCTCTCCC		ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	3/16						chr13	TogoVar
ENOX1_chr13_43208130_43791972	43478944	C C	CGGGGGAG others(17): Show CGGGGGAGAAATTCCCCAAGCCTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp2 HG01243.hp1 others(68): Show HG01074.hp1 HG01074.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG02004.hp2 HG02055.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02257.hp1 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02717.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03710.hp1 HG03831.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18944.hp1 NA18954.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18973.hp2 NA18984.hp1 NA18985.hp2 NA19004.hp2 NA19030.hp1 NA19043.hp2 NA19079.hp2 NA19081.hp1 NA19085.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0001c0009 a0001c0010 a0002c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(21): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0021 a0001c0001t0025 a0001c0001t0026 a0001c0001t0038 a0001c0001t0040 a0001c0002t0001 a0001c0002t0006 a0001c0002t0016 a0001c0002t0027 a0001c0003t0011 a0001c0003t0013 a0001c0005t0003 a0001c0008t0002 a0001c0009t0001 a0001c0010t0006 a0002c0004t0024	a0001c0001t0002g0036 a0001c0001t0002g0050 a0001c0001t0002g0058 others(68): Show a0001c0001t0002g0036 a0001c0001t0002g0050 a0001c0001t0002g0058 a0001c0001t0002g0064 a0001c0001t0002g0076 a0001c0001t0002g0082 a0001c0001t0002g0115 a0001c0001t0003g0013 a0001c0001t0003g0021 a0001c0001t0003g0065 a0001c0001t0003g0118 a0001c0001t0003g0123 a0001c0001t0004g0088 a0001c0001t0004g0089 a0001c0001t0004g0114 a0001c0001t0004g0116 a0001c0001t0004g0124 a0001c0001t0004g0126 a0001c0001t0005g0140 a0001c0001t0005g0149 a0001c0001t0005g0168 a0001c0001t0005g0170 a0001c0001t0005g0172 a0001c0001t0005g0173 a0001c0001t0006g0141 a0001c0001t0007g0142 a0001c0001t0007g0182 a0001c0001t0007g0183 a0001c0001t0007g0185 a0001c0001t0008g0001 a0001c0001t0008g0084 a0001c0001t0008g0105 a0001c0001t0008g0107 a0001c0001t0010g0086 a0001c0001t0010g0087 a0001c0001t0021g0106 a0001c0001t0025g0125 a0001c0001t0026g0092 a0001c0001t0038g0177 a0001c0001t0040g0139 a0001c0002t0001g0014 a0001c0002t0001g0016 a0001c0002t0001g0038 a0001c0002t0001g0053 a0001c0002t0001g0060 a0001c0002t0001g0068 a0001c0002t0001g0073 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0081 a0001c0002t0001g0083 a0001c0002t0001g0094 a0001c0002t0001g0096 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0006g0158 a0001c0002t0006g0169 a0001c0002t0006g0174 a0001c0002t0006g0175 a0001c0002t0006g0176 a0001c0002t0016g0049 a0001c0002t0027g0121 a0001c0003t0011g0163 a0001c0003t0011g0171 a0001c0003t0013g0093 a0001c0003t0013g0095 a0001c0005t0003g0120 a0001c0008t0002g0077 a0001c0009t0001g0133 a0001c0010t0006g0161 a0002c0004t0024g0051	71	188	0.3777	24	c.-75 others(41): Show c.-75+5041_-75+5064dupAAAGGCTTGGGGAATTTCTCCCCC		ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	3/16						chr13	TogoVar
ENOX1_chr13_43208130_43791972	43651695	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	188	0.0053	24	c.-21 others(45): Show c.-219+15783_-219+15784insTTTTTTTTTTTTTTTTTTTTTTTT		ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	2/16						chr13	TogoVar
ENPP1_chr6_131803020_131900155	131811376	A A	ATATATCT others(17): Show ATATATCTATATCTATATCTATATC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01255.hp1 HG01928.hp1 others(5): Show HG00741.hp2 HG01255.hp1 HG01928.hp1 HG02055.hp2 HG02155.hp1 HG03139.hp1 HG03239.hp1 NA18978.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0002c0002t0004 a0002c0004t0023	a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0003g0100 others(5): Show a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0003g0100 a0001c0001t0003g0272 a0001c0001t0003g0274 a0001c0001t0007g0271 a0002c0002t0004g0273 a0002c0004t0023g0099	8	292	0.0274	24	c.240 others(41): Show c.240+3137_240+3160dupCTATATCTATATCTATATCTATAT		ENPP1	ENSG00000197594.14	transcript	ENST00000647893.1	protein_coding	1/24					INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP1_chr6_131803020_131900155	131811376	A A	ATATCTAT others(17): Show ATATCTATATATCTATATCTATATC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp2 HG02735.hp1 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0084 a0001c0007t0038 a0001c0001t0084 a0001c0007t0038	a0001c0001t0084g0102 a0001c0007t0038g0103 a0001c0001t0084g0102 a0001c0007t0038g0103	2	292	0.0069	24	c.240 others(41): Show c.240+3104_240+3105insCTATATATCTATATCTATATCTAT		ENPP1	ENSG00000197594.14	transcript	ENST00000647893.1	protein_coding	1/24					INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP2_chr8_119552086_119643839	119554357	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0045 a0001c0002t0001g0045	1	340	0.0029	24	c.31 others(35): Show c.3163_*3164insAAAAAAAAAAAAAAAAAAAAAAAA		ENPP2	ENSG00000136960.13	transcript	ENST00000075322.11	protein_coding					2728		chr8	TogoVar
ENPP3_chr6_131632302_131752410	131641799	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03139.hp1 HG04184.hp1 others(6): Show HG02809.hp2 HG03139.hp1 HG04184.hp1 NA18747.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18969.hp2 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0128 others(6): Show a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0002t0001g0018 a0001c0002t0001g0071 a0001c0002t0001g0093 a0001c0002t0002g0106	9	278	0.0324	24	c.154 others(39): Show c.154+270_154+293dupTTTTTTTTTTTTTTTTTTTTTTTT		ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	2/24					INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP3_chr6_131632302_131752410	131678907	C C	CTCTTTCT others(17): Show CTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0213 a0002c0004t0002g0213	1	278	0.0036	24	c.101 others(42): Show c.1011+998_1011+1021dupTTTCTTTCTTTCTTTCTTTCTTTC		ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	11/24					INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP3_chr6_131632302_131752410	131678958	T T	TTTCTTTC others(17): Show TTTCTTTCTTTCTTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0090 a0001c0002t0001g0090	1	278	0.0036	24	c.101 others(43): Show c.1011+1021_1011+1022insTTTCTTTCTTTCCTTCCTTCCTTC		ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	11/24					INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP3_chr6_131632302_131752410	131678958	T T	TTTCTTTC others(17): Show TTTCTTTCTTTCTTTCTTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0229 a0001c0001t0002g0229	1	278	0.0036	24	c.101 others(43): Show c.1011+1021_1011+1022insTTTCTTTCTTTCTTTCCTTCCTTC		ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	11/24					INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP3_chr6_131632302_131752410	131679026	C C	CTTCCTTC others(17): Show CTTCCTTCCTTCCTTCCTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	278	0.0036	24	c.101 others(43): Show c.1011+1089_1011+1090insCTTCCTTCCTTCCTTCTTTCTTTC		ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	11/24					INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP3_chr6_131632302_131752410	131679026	C C	CTTCCTTC others(17): Show CTTCCTTCCTTCCTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA18980.hp2 HG03540.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0260 a0001c0001t0001g0154 a0001c0001t0001g0260	2	278	0.0072	24	c.101 others(43): Show c.1011+1089_1011+1090insCTTCCTTCCTTCTTTCTTTCTTTC		ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	11/24					INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP3_chr6_131632302_131752410	131679026	C C	CTTCCTTC others(17): Show CTTCCTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01516.hp2 NA18995.hp1 NA19001.hp1 HG01516.hp2 NA18995.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0147 a0001c0001t0001g0253 a0001c0001t0003g0160 a0001c0001t0001g0147 a0001c0001t0001g0253 a0001c0001t0003g0160	3	278	0.0108	24	c.101 others(43): Show c.1011+1089_1011+1090insCTTCTTTCTTTCTTTCTTTCTTTC		ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	11/24					INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP6_chr4_184083706_184222873	184131140	A A	ACTTACTT others(17): Show ACTTACTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0213 a0001c0002t0002g0213	1	320	0.0031	24	c.422 others(41): Show c.422-6869_422-6868insAAAGAAAGAAAGAAAGAAAGTAAG		ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding	2/7						chr4	TogoVar
ENPP6_chr4_184083706_184222873	184131258	C C	CTTTCTCT others(17): Show CTTTCTCTTTCTTTCTTTCCTTCTT	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA18946.hp1 HG02698.hp1 NA18946.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0184 a0002c0001t0001g0006 a0001c0002t0001g0184 a0002c0001t0001g0006	2	320	0.0063	24	c.422 others(41): Show c.422-6987_422-6986insAAGAAGGAAAGAAAGAAAGAGAAA		ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding	2/7						chr4	TogoVar
ENPP6_chr4_184083706_184222873	184131259	T T	TCTTCCTT others(17): Show TCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0026 a0002c0001t0026	a0002c0001t0026g0033 a0002c0001t0026g0033	1	320	0.0031	24	c.422 others(41): Show c.422-7011_422-6988dupGAAGGAAGGAAGGAAGGAAGGAAG		ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding	2/7						chr4	TogoVar

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