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
GLA_chrX_101392803_101412925	101407461	C C	CGAGAGAG others(17): Show CGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG03239.hp2 HG03831.hp1 others(1): Show HG01934.hp1 HG03239.hp2 HG03831.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 others(1): Show a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044	4	318	0.0126	24	c.194 others(39): Show c.194+248_194+249insTCTCTCTCTCTCTCTCTCTCTCTC	GLA	ENSG00000102393.15	transcript	ENST00000218516.4	protein_coding	1/6			chrX	TogoVar
GLB1L2_chr11_134326988_134381324	134362339	T T	TCCTTCCC others(17): Show TCCTTCCCCGGCGCTGCCCGCCTTC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0048 a0001c0001t0003g0048	1	414	0.0024	24	c.734 others(41): Show c.734-1969_734-1968insCTTCCCTTCCCCGGCGCTGCCCGC	GLB1L2	ENSG00000149328.16	transcript	ENST00000535456.7	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
GLB1L3_chr11_134271379_134324564	134308214	C C	CCACCACC others(17): Show CCACCACCACCACCATCACCACCAT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02040.hp1 NA19080.hp1 HG01952.hp2 HG02040.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0012 a0001c0002t0001 a0001c0001t0001 a0001c0001t0012 a0001c0002t0001	a0001c0001t0001g0175 a0001c0001t0012g0329 a0001c0002t0001g0195 a0001c0001t0001g0175 a0001c0001t0012g0329 a0001c0002t0001g0195	3	422	0.0071	24	c.961 others(41): Show c.961+1008_961+1009insCCACCACCACCATCACCACCATCA	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GLB1L3_chr11_134271379_134324564	134308253	T T	TCATCACC others(17): Show TCATCACCATCACCACCACCACCAC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0017 a0001c0005t0002g0017	2	422	0.0047	24	c.961 others(41): Show c.961+1047_961+1048insTCACCATCACCACCACCACCACCA	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GLB1L3_chr11_134271379_134324564	134308323	T T	TCACCATC others(17): Show TCACCATCACCATCACCACCACCAC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG04184.hp2 HG01192.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0245 a0001c0003t0002g0105 a0001c0001t0001g0245 a0001c0003t0002g0105	2	422	0.0047	24	c.961 others(41): Show c.961+1132_961+1133insCCACCACCACCATCACCATCACCA	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GLB1L3_chr11_134271379_134324564	134308365	C C	CCATCACC others(17): Show CCATCACCATCACCATCATCACCAT	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0062 a0001c0003t0001g0062	1	422	0.0024	24	c.961 others(41): Show c.961+1159_961+1160insTCACCATCACCATCATCACCATCA	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GLB1L_chr2_219231598_219250444	219241436	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	410	0.0024	24	c.451 others(41): Show c.451+1077_451+1078insTATATATATATATATATATATATA	GLB1L	ENSG00000163521.16	transcript	ENST00000295759.12	protein_coding	5/16			chr2	TogoVar
GLB1_chr3_32991617_33102146	33002324	T T	TCTCCCTC others(17): Show TCTCCCTCCCTCCCTCCCTCCCTCC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	394	0.0025	24	c.173 others(43): Show c.1735-5004_1735-4981dupGGAGGGAGGGAGGGAGGGAGGGAG	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	15/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33009122	A A	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0243 a0001c0005t0002g0243	1	394	0.0025	24	c.173 others(43): Show c.1734+4910_1734+4933dupATTTATTTATTTATTTATTTATTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	15/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33009154	T T	TAAATAAA others(17): Show TAAATAAATAAATAAATAAATAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA19043.hp2 HG01243.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0024 a0001c0005t0001g0254 a0001c0001t0001g0024 a0001c0005t0001g0254	2	394	0.0051	24	c.173 others(43): Show c.1734+4901_1734+4902insTTTTATTTATTTATTTATTTATTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	15/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33022564	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0380 a0002c0002t0001g0380	1	394	0.0025	24	c.114 others(41): Show c.1144-910_1144-909insAAAAAAAAAAAAAAAAAAAAAAAA	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	11/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33031640	A A	AAAAAAAA others(17): Show AAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0229 a0001c0011t0001g0229	1	394	0.0025	24	c.106 others(43): Show c.1069-7316_1069-7315insATATATATATATATTTTTTTTTTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	10/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33074361	G G	GAAGAAAG others(17): Show GAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	394	0.0025	24	c.76- others(39): Show c.76-1649_76-1648insTCTTTCTTTCTTTCTTTCTTTCTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33074365	G G	GAAGAAAG others(17): Show GAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0190 a0003c0004t0001g0190	1	394	0.0025	24	c.76- others(39): Show c.76-1653_76-1652insTCTTTCTTTCTTTCTTTCTTTCTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33074369	G G	GAAGAAAG others(17): Show GAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03195.hp2 HG03225.hp2 HG02572.hp1 HG03195.hp2 HG03225.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0179 a0003c0004t0001g0173 a0003c0004t0001g0192 a0001c0001t0001g0179 a0003c0004t0001g0173 a0003c0004t0001g0192	3	394	0.0076	24	c.76- others(39): Show c.76-1657_76-1656insTCTTTCTTTCTTTCTTTCTTTCTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33074373	G G	GAAGAAAG others(17): Show GAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03471.hp2 HG02258.hp1 HG03471.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0158 a0003c0004t0001g0153 a0001c0001t0001g0158 a0003c0004t0001g0153	2	394	0.0051	24	c.76- others(39): Show c.76-1661_76-1660insTCTTTCTTTCTTTCTTTCTTTCTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33074381	G G	GAAGAAAG others(17): Show GAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01099.hp1 HG01993.hp2 others(3): Show HG01074.hp1 HG01099.hp1 HG01993.hp2 HG02622.hp1 HG02896.hp1 NA18981.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0007 a0001c0001 a0002c0002 a0004c0007	a0001c0001t0001 a0002c0002t0001 a0004c0007t0001 a0001c0001t0001 a0002c0002t0001 a0004c0007t0001	a0001c0001t0001g0016 a0001c0001t0001g0085 a0002c0002t0001g0379 others(3): Show a0001c0001t0001g0016 a0001c0001t0001g0085 a0002c0002t0001g0379 a0004c0007t0001g0357 a0004c0007t0001g0388 a0004c0007t0001g0389	6	394	0.0152	24	c.76- others(39): Show c.76-1669_76-1668insTCTTTCTTTCTTTCTTTCTTTCTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33074385	G G	GAAGAAAG others(17): Show GAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA19080.hp1 NA18988.hp2 NA19080.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0005 a0002c0002t0001g0359 a0001c0001t0002g0005 a0002c0002t0001g0359	2	394	0.0051	24	c.76- others(39): Show c.76-1673_76-1672insTCTTTCTTTCTTTCTTTCTTTCTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33074389	G G	GAAGAAAG others(17): Show GAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01109.hp2 HG01257.hp2 others(5): Show HG01069.hp1 HG01109.hp2 HG01257.hp2 HG02055.hp1 HG02074.hp2 HG03710.hp2 HG04204.hp1 NA19081.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0007 a0001c0001 a0002c0002 a0004c0007	a0001c0001t0002 a0002c0002t0001 a0004c0007t0001 a0001c0001t0002 a0002c0002t0001 a0004c0007t0001	a0001c0001t0002g0014 a0002c0002t0001g0358 a0002c0002t0001g0372 others(5): Show a0001c0001t0002g0014 a0002c0002t0001g0358 a0002c0002t0001g0372 a0002c0002t0001g0378 a0002c0002t0001g0380 a0002c0002t0001g0381 a0002c0002t0001g0391 a0004c0007t0001g0392	8	394	0.0203	24	c.76- others(39): Show c.76-1677_76-1676insTCTTTCTTTCTTTCTTTCTTTCTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33074389	G G	GAAGGAAG others(17): Show GAAGGAAGGAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0327 a0002c0002t0001g0327	1	394	0.0025	24	c.76- others(39): Show c.76-1677_76-1676insTCTTTCTTTCTTTCTTCCTTCCTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33074389	G G	GAAGGAAG others(17): Show GAAGGAAGGAAGGAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	394	0.0025	24	c.76- others(39): Show c.76-1677_76-1676insTCTTTCTTTCTTCCTTCCTTCCTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLCCI1_chr7_7963796_8094080	7966733	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01070.hp1 HG01169.hp1 others(11): Show HG00735.hp2 HG01070.hp1 HG01169.hp1 HG01192.hp2 HG01516.hp2 HG02080.hp1 HG02698.hp1 HG02738.hp2 HG03490.hp2 HG03492.hp2 NA18993.hp1 NA19057.hp1 NA19070.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0008 a0001c0001t0018 others(2): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0018 a0001c0001t0037 a0001c0002t0005	a0001c0001t0001g0222 a0001c0001t0001g0263 a0001c0001t0001g0265 others(11): Show a0001c0001t0001g0222 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0272 a0001c0001t0001g0293 a0001c0001t0001g0344 a0001c0001t0008g0258 a0001c0001t0008g0262 a0001c0001t0008g0369 a0001c0001t0018g0226 a0001c0001t0037g0291 a0001c0001t0037g0292 a0001c0002t0005g0117	14	416	0.0337	24	c.-26 others(35): Show c.-2618_-2617insTTTTTTTTTTTTTTTTTTTTTTTT	GLCCI1	ENSG00000106415.13	transcript	ENST00000223145.10	protein_coding		2062		chr7	TogoVar
GLCCI1_chr7_7963796_8094080	8023588	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	416	0.0024	24	c.696 others(41): Show c.696+1024_696+1047dupTTTTTTTTTTTTTTTTTTTTTTTT	GLCCI1	ENSG00000106415.13	transcript	ENST00000223145.10	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
GLCE_chr15_69155635_69277207	69177684	C C	CCTTTATC others(17): Show CCTTTATCATCTTTACTTCATGCCG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03516.hp1 NA18971.hp1 HG03195.hp2 HG03516.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0005 a0001c0003t0006 a0001c0001t0003 a0001c0003t0005 a0001c0003t0006	a0001c0001t0003g0334 a0001c0003t0005g0139 a0001c0003t0006g0135 a0001c0001t0003g0334 a0001c0003t0005g0139 a0001c0003t0006g0135	3	342	0.0088	24	c.-10 others(45): Show c.-105+16975_-105+16998dupGCTTTATCATCTTTACTTCATGCC	GLCE	ENSG00000138604.10	transcript	ENST00000261858.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr15	TogoVar
GLCE_chr15_69155635_69277207	69178348	G G	GTTTTATT others(17): Show GTTTTATTTCGTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0080 a0003c0004t0002g0080	1	342	0.0029	24	c.-10 others(45): Show c.-105+17593_-105+17594insTTATTTCGTTTTTTTTTTTTTTTT	GLCE	ENSG00000138604.10	transcript	ENST00000261858.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr15	TogoVar
GLDC_chr9_6527467_6650729	6593268	G G	GATATATA others(17): Show GATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0153 a0001c0013t0001g0153	1	342	0.0029	24	c.126 others(41): Show c.1262-279_1262-278insATATATATATATATATATATATAT	GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding	9/24			chr9	TogoVar
GLDC_chr9_6527467_6650729	6594692	T T	TAAGCAAG others(17): Show TAAGCAAGCAAGCAAGCAAGCAAGC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0003 a0003c0009t0003	a0003c0009t0003g0315 a0003c0009t0003g0315	1	342	0.0029	24	c.126 others(41): Show c.1261+321_1261+322insGCTTGCTTGCTTGCTTGCTTGCTT	GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding	9/24			chr9	TogoVar
GLDC_chr9_6527467_6650729	6599720	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0234 a0001c0005t0001g0234	1	342	0.0029	24	c.115 others(43): Show c.1155+2388_1155+2389insTTTTTTTTTTTTTTTTTTTTTTTT	GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding	8/24			chr9	TogoVar
GLDC_chr9_6527467_6650729	6639666	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0015 a0001c0002t0001g0015	1	342	0.0029	24	c.334 others(41): Show c.334+4947_334+4948insATATATATATATATATATATATAT	GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding	2/24			chr9	TogoVar
GLDC_chr9_6527467_6650729	6639668	A A	AAAGTATA others(17): Show AAAGTATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18944.hp2 NA18945.hp2 others(3): Show HG02040.hp1 NA18944.hp2 NA18945.hp2 NA18969.hp1 NA19056.hp2 NA19058.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0016 a0001c0001 a0008c0016	a0001c0001t0001 a0001c0001t0002 a0008c0016t0002 a0001c0001t0001 a0001c0001t0002 a0008c0016t0002	a0001c0001t0001g0169 a0001c0001t0001g0191 a0001c0001t0001g0216 others(3): Show a0001c0001t0001g0169 a0001c0001t0001g0191 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0002g0218 a0008c0016t0002g0150	6	342	0.0175	24	c.334 others(41): Show c.334+4945_334+4946insATATATATATATATATATATACTT	GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding	2/24			chr9	TogoVar
GLDC_chr9_6527467_6650729	6639669	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0284 a0001c0001t0004g0284	1	342	0.0029	24	c.334 others(41): Show c.334+4944_334+4945insTATATATATATATATATATATATA	GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding	2/24			chr9	TogoVar
GLDC_chr9_6527467_6650729	6646315	T T	TCTCCTCC others(17): Show TCTCCTCCTCCTCCTCCTCCTCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG00642.hp1 others(7): Show HG00408.hp1 HG00597.hp1 HG00642.hp1 HG01123.hp2 HG01261.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA19002.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0187 a0001c0001t0001g0192 a0001c0001t0001g0212 others(7): Show a0001c0001t0001g0187 a0001c0001t0001g0192 a0001c0001t0001g0212 a0001c0001t0001g0259 a0001c0001t0002g0183 a0001c0002t0002g0052 a0001c0003t0001g0053 a0001c0003t0001g0055 a0001c0003t0001g0056 a0001c0004t0001g0305	10	342	0.0292	24	c.-81 others(33): Show c.-817_-816insGAGGAGGAGGAGGAGGAGGAGGAG	GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding		587		chr9	TogoVar
GLG1_chr16_74442440_74612114	74477977	A A	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0151 a0001c0001t0002g0151	1	342	0.0029	24	c.182 others(41): Show c.1828-468_1828-445dupATTTATTTATTTATTTATTTATTT	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	11/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74479051	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18939.hp2 NA18957.hp2 others(1): Show HG02083.hp1 NA18939.hp2 NA18957.hp2 NA19064.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0011 a0001c0001 a0005c0011	a0001c0001t0001 a0005c0011t0001 a0001c0001t0001 a0005c0011t0001	a0001c0001t0001g0239 a0001c0001t0001g0260 a0001c0001t0001g0318 others(1): Show a0001c0001t0001g0239 a0001c0001t0001g0260 a0001c0001t0001g0318 a0005c0011t0001g0340	4	342	0.0117	24	c.182 others(43): Show c.1827+1166_1827+1189dupTTTTTTTTTTTTTTTTTTTTTTTT	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	11/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74493908	T T	TCACACCG others(17): Show TCACACCGAGGATTTTATATAAAAC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0052 a0001c0003t0052	a0001c0003t0052g0087 a0001c0003t0052g0087	1	342	0.0029	24	c.105 others(41): Show c.1051-769_1051-768insGTTTTATATAAAATCCTCGGTGTG	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	6/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74498448	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02683.hp1 HG01074.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0006 a0001c0005t0006 a0001c0001t0006 a0001c0005t0006	a0001c0001t0006g0201 a0001c0005t0006g0274 a0001c0001t0006g0201 a0001c0005t0006g0274	2	342	0.0059	24	c.775 others(41): Show c.775-1805_775-1804insTATATATATATATATATATATATA	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	4/25			chr16	TogoVar
GLI2_chr2_120730868_120997653	120800473	T T	TTTATTAT others(17): Show TTTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0043 a0001c0007t0043	a0001c0007t0043g0035 a0001c0007t0043g0035	1	160	0.0063	24	c.148 others(41): Show c.148+3025_148+3026insATTATTATTATTATTATTATTATT	GLI2	ENSG00000074047.22	transcript	ENST00000361492.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
GLI2_chr2_120730868_120997653	120945957	T T	TCACACAC others(17): Show TCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA18982.hp1 HG02080.hp2 NA18982.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0004 a0001c0002t0001 a0002c0001t0004	a0001c0002t0001g0042 a0002c0001t0004g0058 a0001c0002t0001g0042 a0002c0001t0004g0058	2	160	0.0125	24	c.255 others(41): Show c.255-5275_255-5252dupCACACACACACACACACACACACA	GLI2	ENSG00000074047.22	transcript	ENST00000361492.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
GLI3_chr7_41955949_42242209	42182660	A A	ATATATAT others(17): Show ATATATATATATATATACATGTGTG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	158	0.0063	24	c.125 others(43): Show c.125-34193_125-34192insCACACATGTATATATATATATATA	GLI3	ENSG00000106571.15	transcript	ENST00000395925.8	protein_coding	2/14			chr7	TogoVar
GLI3_chr7_41955949_42242209	42238003	G G	GCCTCCTC others(17): Show GCCTCCTCCTCCTCCTCCTCCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0129 a0001c0001t0008g0129	1	158	0.0063	24	c.-10 others(35): Show c.-1099_-1076dupAGAAGGAGGAGGAGGAGGAGGAGG	GLI3	ENSG00000106571.15	transcript	ENST00000395925.8	protein_coding		795		chr7	TogoVar
GLI4_chr8_143262445_143281931	143268838	T T	TTGCTGCT others(17): Show TTGCTGCTGCTGCTGCTGCTGCTGC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0096 a0002c0001t0001g0096	1	394	0.0025	24	c.-37 others(39): Show c.-37-499_-37-498insCTGCTGCTGCTGCTGCTGCTGCTG	GLI4	ENSG00000250571.7	transcript	ENST00000340042.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
GLI4_chr8_143262445_143281931	143268859	C C	CTGCTGCT others(17): Show CTGCTGCTGCTGCTGCTGCTGCTGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00408.hp1 others(104): Show HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01168.hp1 HG01243.hp1 HG01243.hp2 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02055.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02273.hp1 HG02293.hp2 HG02647.hp2 HG02738.hp1 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03239.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18940.hp1 NA18945.hp2 NA18947.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp2 NA18956.hp1 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18967.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18985.hp2 NA18992.hp1 NA18995.hp2 NA19000.hp2 NA19002.hp2 NA19010.hp1 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19074.hp2 NA19079.hp2 NA19081.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19091.hp2 NA20300.hp2 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0002c0001 others(4): Show a0001c0002 a0001c0003 a0002c0001 a0002c0009 a0002c0011 a0002c0013 a0003c0004	a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 others(5): Show a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 a0002c0009t0001 a0002c0011t0001 a0002c0013t0001 a0003c0004t0001 a0003c0004t0002	a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0001g0049 others(25): Show a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0001g0049 a0001c0003t0001g0105 a0002c0001t0001g0001 a0002c0001t0001g0014 a0002c0001t0001g0019 a0002c0001t0001g0022 a0002c0001t0001g0033 a0002c0001t0001g0034 a0002c0001t0001g0036 a0002c0001t0001g0097 a0002c0001t0001g0098 a0002c0001t0001g0099 a0002c0001t0001g0100 a0002c0001t0001g0101 a0002c0001t0001g0102 a0002c0001t0001g0103 a0002c0001t0001g0104 a0002c0001t0001g0106 a0002c0001t0001g0107 a0002c0001t0001g0114 a0002c0009t0001g0001 a0002c0011t0001g0082 a0002c0013t0001g0034 a0003c0004t0001g0079 a0003c0004t0001g0080 a0003c0004t0002g0048	107	394	0.2716	24	c.-37 others(39): Show c.-37-499_-37-498insCTGCTGCTGCTGCTGCTGCTGTTG	GLI4	ENSG00000250571.7	transcript	ENST00000340042.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
GLI4_chr8_143262445_143281931	143268859	C C	CTGCTGCT others(17): Show CTGCTGCTGCTGCTGCTTCTGCTGT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0110 a0002c0001t0001g0110	1	394	0.0025	24	c.-37 others(39): Show c.-37-499_-37-498insCTGCTGCTGCTGCTTCTGCTGTTG	GLI4	ENSG00000250571.7	transcript	ENST00000340042.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
GLIPR1_chr12_75475755_75508863	75485533	T T	TTTTATTT others(17): Show TTTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	362	0.0028	24	c.420 others(41): Show c.420+3462_420+3485dupATTTATTTATTTATTTATTTATTT	GLIPR1	ENSG00000139278.10	transcript	ENST00000266659.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLIPR2_chr9_36131733_36168906	36134714	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 NA18994.hp1 NA19240.hp1 HG01167.hp1 NA18994.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0011 a0001c0001t0001g0105 a0001c0001t0002g0286 a0001c0001t0001g0011 a0001c0001t0001g0105 a0001c0001t0002g0286	3	420	0.0071	24	c.-20 others(35): Show c.-2065_-2064insACACACACACACACACACACACAC	GLIPR2	ENSG00000122694.16	transcript	ENST00000377960.9	protein_coding		2018		chr9	TogoVar
GLIS3_chr9_3819127_4305068	3896670	T T	TAATTAAA others(17): Show TAATTAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02818.hp2 NA18522.hp1 others(1): Show HG01884.hp2 HG02818.hp2 NA18522.hp1 NA21309.hp1	a0002 a0005 a0008 others(1): Show a0002 a0005 a0008 a0013	a0002c0002 a0005c0005 a0008c0006 others(1): Show a0002c0002 a0005c0005 a0008c0006 a0013c0011	a0002c0002t0007 a0005c0005t0007 a0008c0006t0032 others(1): Show a0002c0002t0007 a0005c0005t0007 a0008c0006t0032 a0013c0011t0056	a0002c0002t0007g0030 a0005c0005t0007g0033 a0008c0006t0032g0001 others(1): Show a0002c0002t0007g0030 a0005c0005t0007g0033 a0008c0006t0032g0001 a0013c0011t0056g0034	4	188	0.0213	24	c.212 others(43): Show c.2128+2020_2128+2021insTTTTTTTTTTTTTTTTTTTTAATT	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	7/10			chr9	TogoVar
GLIS3_chr9_3819127_4305068	3991683	A A	AATTTTTT others(17): Show AATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0070 a0001c0001t0055g0070	1	188	0.0053	24	c.171 others(45): Show c.1711-54495_1711-54494insAAAAAAAAAAAAAAAAAAAAAAAT	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	4/10			chr9	TogoVar
GLIS3_chr9_3819127_4305068	4059829	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGTGAGAGA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0169 a0001c0001t0062g0169	1	188	0.0053	24	c.171 others(45): Show c.1710+57938_1710+57939insTCTCTCACACACACACACACACAC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	4/10			chr9	TogoVar
GLIS3_chr9_3819127_4305068	4059829	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGTGTGAGA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01517.hp1 HG00738.hp1 HG01517.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0021 a0004c0003t0014 a0001c0001t0021 a0004c0003t0014	a0001c0001t0021g0057 a0004c0003t0014g0056 a0001c0001t0021g0057 a0004c0003t0014g0056	2	188	0.0106	24	c.171 others(45): Show c.1710+57938_1710+57939insTCTCACACACACACACACACACAC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	4/10			chr9	TogoVar
GLIS3_chr9_3819127_4305068	4059829	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG01256.hp1 NA19085.hp2 NA19088.hp2 HG01256.hp1 NA19085.hp2 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0002c0002t0087 a0001c0001t0001 a0001c0001t0005 a0002c0002t0087	a0001c0001t0001g0144 a0001c0001t0005g0146 a0002c0002t0087g0187 a0001c0001t0001g0144 a0001c0001t0005g0146 a0002c0002t0087g0187	3	188	0.0160	24	c.171 others(45): Show c.1710+57938_1710+57939insTCACACACACACACACACACACAC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	4/10			chr9	TogoVar

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