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
GJA10_chr6_89889469_89901120	89898084	T T	TCTTTCCT others(23): Show TCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	386	0.0026	30	c.19 others(41): Show c.1984_*1985insCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC	GJA10	ENSG00000135355.4	transcript	ENST00000369352.1	protein_coding		1965		chr6	TogoVar
GJA10_chr6_89889469_89901120	89898131	T T	TTTCCCTT others(23): Show TTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01256.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	386	0.0052	30	c.20 others(41): Show c.2031_*2032insTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC	GJA10	ENSG00000135355.4	transcript	ENST00000369352.1	protein_coding		2012		chr6	TogoVar
GJA4_chr1_34787999_34800747	34797691	G G	GAGCCGGG others(23): Show GAGCCGGGGTCAGGCTGGGGCTCTGGAACTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	416	0.0024	30	c.24 others(41): Show c.2476_*2477insAGCCGGGGTCAGGCTGGGGCTCTGGAACTT	GJA4	ENSG00000187513.9	transcript	ENST00000342280.5	protein_coding		1945		chr1	TogoVar
GJA8_chr1_147897795_147914269	147899925	G G	GAGAAAGA others(23): Show GAGAAAGAAAGAAAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp1 NA18978.hp1 NA18983.hp1 HG03710.hp1 NA18978.hp1 NA18983.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0024 a0001c0002t0001g0003 a0001c0002t0001g0024	3	472	0.0064	30	c.-29 others(41): Show c.-2948_-2947insAGAAAGAAAGAAAAAGAAAGAAAGAAAGAA	GJA8	ENSG00000121634.6	transcript	ENST00000369235.2	protein_coding		2869		chr1	TogoVar
GK_chrX_30648423_30736462	30704128	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02451.hp1 HG02451.hp2 others(4): Show HG01891.hp2 HG02451.hp1 HG02451.hp2 HG02622.hp1 HG02723.hp1 HG02965.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008	a0001c0001t0001g0032 a0001c0001t0002g0092 a0001c0001t0004g0171 others(4): Show a0001c0001t0001g0032 a0001c0001t0002g0092 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0180 a0001c0001t0007g0103 a0001c0001t0008g0101	7	286	0.0245	30	c.851 others(47): Show c.851+3244_851+3245insATATATATATATATATATATATATATAT AT	GK	ENSG00000198814.14	transcript	ENST00000427190.6	protein_coding	11/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
GLA_chrX_101392803_101412925	101407461	C C	CGAGAGAG others(23): Show CGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01952.hp1 HG01993.hp1 others(6): Show HG00438.hp1 HG01952.hp1 HG01993.hp1 HG02559.hp2 NA18747.hp1 NA18967.hp1 NA18975.hp2 NA18995.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0055 a0001c0001t0002g0056 others(5): Show a0001c0001t0002g0024 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061	9	318	0.0283	30	c.194 others(45): Show c.194+248_194+249insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	GLA	ENSG00000102393.15	transcript	ENST00000218516.4	protein_coding	1/6			chrX	TogoVar
GLB1L3_chr11_134271379_134324564	134308208	C C	CCACCACC others(23): Show CCACCACCACCACCACCACCATCACCACCAT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA19004.hp1 NA19074.hp1 NA18955.hp2 NA19004.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0182	3	422	0.0071	30	c.961 others(47): Show c.961+1008_961+1009insCCACCACCACCATCACCACCATCACCAC CA	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GLB1_chr3_32991617_33102146	33074408	G G	GAAAGAAA others(23): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03579.hp1 NA18959.hp2 HG02976.hp1 HG03579.hp1 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0050 a0001c0001t0001g0071 a0001c0001t0002g0022 a0001c0001t0001g0050 a0001c0001t0001g0071 a0001c0001t0002g0022	3	394	0.0076	30	c.76- others(45): Show c.76-1696_76-1695insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLCCI1_chr7_7963796_8094080	7966733	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG03453.hp1 HG06807.hp2 HG02257.hp1 HG03453.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0008g0256 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0008g0256	3	416	0.0072	30	c.-26 others(41): Show c.-2618_-2617insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GLCCI1	ENSG00000106415.13	transcript	ENST00000223145.10	protein_coding		2062		chr7	TogoVar
GLCCI1_chr7_7963796_8094080	7976479	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0194 a0001c0001t0012g0194	1	416	0.0024	30	c.457 others(47): Show c.457+6691_457+6692insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	GLCCI1	ENSG00000106415.13	transcript	ENST00000223145.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
GLCCI1_chr7_7963796_8094080	7981238	A A	ATTTCTTT others(23): Show ATTTCTTTCTTTCTTTCTCTTTTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA18522.hp2 HG01496.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0065 a0001c0001t0064 a0001c0001t0065	a0001c0001t0064g0012 a0001c0001t0065g0013 a0001c0001t0064g0012 a0001c0001t0065g0013	2	416	0.0048	30	c.457 others(49): Show c.457+11448_457+11449insCTTTTTTTCTTTCTTTCTTTCTTTCT TTCT	GLCCI1	ENSG00000106415.13	transcript	ENST00000223145.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
GLCCI1_chr7_7963796_8094080	8023588	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	416	0.0024	30	c.696 others(47): Show c.696+1047_696+1048insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	GLCCI1	ENSG00000106415.13	transcript	ENST00000223145.10	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
GLDC_chr9_6527467_6650729	6639668	A A	AAAGTATA others(23): Show AAAGTATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	342	0.0029	30	c.334 others(47): Show c.334+4945_334+4946insATATATATATATATATATATATATATAC TT	GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding	2/24			chr9	TogoVar
GLDC_chr9_6527467_6650729	6646315	T T	TCTCCTCC others(23): Show TCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01433.hp2 HG02572.hp2 others(3): Show HG01256.hp1 HG01433.hp2 HG02572.hp2 HG03017.hp2 NA18945.hp2 NA19030.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0013	a0001c0001 a0002c0010 a0006c0011 others(1): Show a0001c0001 a0002c0010 a0006c0011 a0013c0022	a0001c0001t0001 a0002c0010t0001 a0006c0011t0001 others(2): Show a0001c0001t0001 a0002c0010t0001 a0006c0011t0001 a0006c0011t0004 a0013c0022t0003	a0001c0001t0001g0216 a0002c0010t0001g0006 a0002c0010t0001g0014 others(3): Show a0001c0001t0001g0216 a0002c0010t0001g0006 a0002c0010t0001g0014 a0006c0011t0001g0082 a0006c0011t0004g0083 a0013c0022t0003g0007	6	342	0.0175	30	c.-81 others(39): Show c.-817_-816insGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding		587		chr9	TogoVar
GLG1_chr16_74442440_74612114	74498447	A A	AAAGTATA others(23): Show AAAGTATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0136 a0001c0001t0005g0136	1	342	0.0029	30	c.775 others(47): Show c.775-1804_775-1803insATATATATATATATATATATATATATAC TT	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	4/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74498448	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01070.hp1 HG01928.hp1 others(4): Show HG00558.hp2 HG01070.hp1 HG01928.hp1 HG02027.hp1 HG02300.hp1 HG04204.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0006 a0001c0001t0013 a0001c0005t0006 a0001c0001t0006 a0001c0001t0013 a0001c0005t0006	a0001c0001t0006g0193 a0001c0001t0006g0278 a0001c0001t0006g0309 others(4): Show a0001c0001t0006g0193 a0001c0001t0006g0278 a0001c0001t0006g0309 a0001c0001t0006g0312 a0001c0001t0006g0315 a0001c0001t0013g0310 a0001c0005t0006g0308	7	342	0.0205	30	c.775 others(47): Show c.775-1805_775-1804insTATATATATATATATATATATATATATA TA	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	4/25			chr16	TogoVar
GLI3_chr7_41955949_42242209	42170287	T T	TATATATA others(23): Show TATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0005 a0004c0014t0005	a0004c0014t0005g0032 a0004c0014t0005g0032	1	158	0.0063	30	c.125 others(49): Show c.125-21820_125-21819insGTGTGTGTATATATATATATATATAT ATAT	GLI3	ENSG00000106571.15	transcript	ENST00000395925.8	protein_coding	2/14			chr7	TogoVar
GLI3_chr7_41955949_42242209	42182658	A A	ATATATAT others(23): Show ATATATATATATATATATACATACATGTGTG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	158	0.0063	30	c.125 others(49): Show c.125-34191_125-34190insCACACATGTATGTATATATATATATA TATA	GLI3	ENSG00000106571.15	transcript	ENST00000395925.8	protein_coding	2/14			chr7	TogoVar
GLI4_chr8_143262445_143281931	143268838	T T	TTGCTGCT others(23): Show TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0077 a0004c0008t0001g0077	1	394	0.0025	30	c.-37 others(45): Show c.-37-499_-37-498insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	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(23): Show CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01516.hp1 HG02572.hp1 others(20): Show HG00741.hp2 HG01516.hp1 HG02572.hp1 HG02602.hp1 HG02717.hp1 HG02723.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG03195.hp2 NA18951.hp1 NA18959.hp1 NA18969.hp2 NA18978.hp2 NA18988.hp1 NA18993.hp1 NA19010.hp2 NA19062.hp1 NA19067.hp1 NA19079.hp1 NA19088.hp2 NA20129.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0001 a0001c0003t0004 a0002c0001t0001 others(1): Show a0001c0002t0001 a0001c0003t0004 a0002c0001t0001 a0002c0001t0003	a0001c0002t0001g0006 a0001c0002t0001g0040 a0001c0003t0004g0038 others(4): Show a0001c0002t0001g0006 a0001c0002t0001g0040 a0001c0003t0004g0038 a0002c0001t0001g0017 a0002c0001t0001g0081 a0002c0001t0001g0089 a0002c0001t0003g0017	23	394	0.0584	30	c.-37 others(45): Show c.-37-499_-37-498insCTGCTGCTGCTGCTGCTGCTGCTGCTGTTG	GLI4	ENSG00000250571.7	transcript	ENST00000340042.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
GLIS1_chr1_53501239_53744164	53709413	C C	CATATATA others(23): Show CATATATACATATATATACATATACATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0004 a0006c0007t0004	a0006c0007t0004g0091 a0006c0007t0004g0091	1	236	0.0042	30	c.259 others(49): Show c.259+28392_259+28393insATATATGTATATGTATATATATGTAT ATAT	GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	2/10			chr1	TogoVar
GLIS3_chr9_3819127_4305068	4059829	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTGTGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0171 a0001c0001t0029g0171	1	188	0.0053	30	c.171 others(51): Show c.1710+57938_1710+57939insTCTCTCTCTCACACACACACACAC ACACAC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	4/10			chr9	TogoVar
GLIS3_chr9_3819127_4305068	4059829	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA19060.hp1 NA18961.hp1 NA19060.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0010 a0002c0002t0003 a0002c0002t0010	a0002c0002t0003g0128 a0002c0002t0010g0092 a0002c0002t0003g0128 a0002c0002t0010g0092	2	188	0.0106	30	c.171 others(51): Show c.1710+57938_1710+57939insTCACACACACACACACACACACAC ACACAC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	4/10			chr9	TogoVar
GLOD5_chrX_48756747_48778648	48766985	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01192.hp1 HG01891.hp2 others(21): Show HG01106.hp1 HG01192.hp1 HG01891.hp2 HG01978.hp1 HG01993.hp2 HG02027.hp1 HG02056.hp1 HG02129.hp1 HG02486.hp1 HG03017.hp1 HG03516.hp2 HG03669.hp1 HG03831.hp1 HG03942.hp1 NA18945.hp1 NA18970.hp1 NA18973.hp2 NA18980.hp1 NA19007.hp1 NA19010.hp2 NA19070.hp1 NA19075.hp1 NA19085.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0059 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0059 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0110 a0001c0001t0001g0119 a0001c0001t0001g0134 a0001c0001t0002g0035	24	269	0.0892	30	c.201 others(47): Show c.201+1033_201+1034insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	GLOD5	ENSG00000171433.12	transcript	ENST00000303227.11	protein_coding	2/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
GLRA1_chr5_151817513_151929851	151849376	G G	GTTTCCTT others(23): Show GTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18957.hp2 NA19060.hp2 HG02056.hp1 NA18957.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0232 a0001c0001t0002g0254 a0001c0001t0002g0264 a0001c0001t0002g0232 a0001c0001t0002g0254 a0001c0001t0002g0264	3	284	0.0106	30	c.912 others(47): Show c.912+1984_912+2013dupGGAAAGGAAAGGAAAGGAAAGGAAAGGA AA	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar
GLRA1_chr5_151817513_151929851	151849376	G G	GTTTCCTT others(23): Show GTTTCCTTTCGTTTCCTTTCCTTTCCTTTCA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0198 a0001c0002t0002g0198	1	284	0.0035	30	c.912 others(47): Show c.912+2013_912+2014insTGAAAGGAAAGGAAAGGAAACGAAAGGA AA	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar
GLRA1_chr5_151817513_151929851	151849452	T T	TTTCCTTT others(23): Show TTTCCTTTCCTTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	284	0.0035	30	c.912 others(47): Show c.912+1937_912+1938insGGGAGGGAGGGAGGGAGGGAAGGAAAGG AA	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar
GLRA1_chr5_151817513_151929851	151884427	T T	TCAAAACA others(23): Show TCAAAACAAAACAAAACAAAACAAAACAAAA	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18990.hp2 NA19060.hp1 others(1): Show NA18977.hp2 NA18990.hp2 NA19060.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0234 a0001c0001t0002g0272 a0001c0001t0002g0274 others(1): Show a0001c0001t0002g0234 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0275	4	284	0.0141	30	c.252 others(47): Show c.252+2293_252+2294insTTTTGTTTTGTTTTGTTTTGTTTTGTTT TG	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	3/8			chr5	TogoVar
GLRA2_chrX_14524536_14736812	14681910	A A	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0215 a0001c0002t0005g0215	1	232	0.0043	30	c.931 others(47): Show c.931-8799_931-8798insAAAAAATATATATATATATATATATATA TA	GLRA2	ENSG00000101958.14	transcript	ENST00000218075.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
GLRA2_chrX_14524536_14736812	14681911	A A	AAAAAAAA others(23): Show AAAAAAAAAAATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0039 a0001c0002t0039	a0001c0002t0039g0184 a0001c0002t0039g0184	1	232	0.0043	30	c.931 others(47): Show c.931-8799_931-8798insAAAAAAAAAATATATATATATATATATA TG	GLRA2	ENSG00000101958.14	transcript	ENST00000218075.9	protein_coding	7/8			chrX	TogoVar
GLRA3_chr4_174631920_174834247	174801999	G G	GATAAATA others(23): Show GATAAATATTTTTGAAATAAATATTTCAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0204 a0001c0001t0027g0205 a0001c0001t0027g0204 a0001c0001t0027g0205	2	296	0.0068	30	c.72- others(47): Show c.72-13086_72-13057dupTTTTGAAATATTTATTTCAAAAATATTT AT	GLRA3	ENSG00000145451.13	transcript	ENST00000274093.8	protein_coding	1/9			chr4	TogoVar
GLT1D1_chr12_128848478_128989968	128874124	C C	CTCCCTTT others(23): Show CTCCCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0268 a0002c0003t0002g0268	1	320	0.0031	30	c.69- others(45): Show c.69-1788_69-1787insCCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128874124	C C	CTCTCTCT others(23): Show CTCTCTCTCTCCCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0073 a0002c0003t0005g0073	1	320	0.0031	30	c.69- others(45): Show c.69-1787_69-1786insCTCTCTCCCTTTCTTTCTTTCTTTCTTTCT	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128956171	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAGAG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02523.hp1 HG02145.hp2 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0231 a0001c0001t0001g0041 a0001c0001t0001g0231	2	320	0.0063	30	c.781 others(47): Show c.781-1373_781-1372insAAAAAAAAAAAAAAAAAAAAAAAAAAGA GA	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GMCL2_chr5_178179505_178192371	178187475	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 HG03130.hp2 HG01169.hp1 HG03130.hp2	a0002 a0011 a0002 a0011	a0002c0002 a0011c0019 a0002c0002 a0011c0019	a0002c0002t0002 a0011c0019t0002 a0002c0002t0002 a0011c0019t0002	a0002c0002t0002g0000 a0011c0019t0002g0000 a0002c0002t0002g0000 a0011c0019t0002g0000	2	452	0.0044	30	c.-17 others(39): Show c.-177_-176insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GMCL2	ENSG00000244234.3	transcript	ENST00000463439.3	protein_coding		105		chr5	TogoVar
GMDS_chr6_1618806_2250605	1927307	A A	AGAGGGTA others(23): Show AGAGGGTAGCGTGTTGGTGTATTTTTATTCG	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0028 a0001c0002t0001g0028	1	166	0.0060	30	c.771 others(47): Show c.771+2766_771+2795dupCGAATAAAAATACACCAACACGCTACCC TC	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	1927367	A A	AGAGGGTA others(23): Show AGAGGGTAGCGTGTTGGTGTATTTTTATTCG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0009 a0001c0002t0002g0009	1	166	0.0060	30	c.771 others(47): Show c.771+2735_771+2736insCGAATAAAAATACACCAACACGCTACCC TC	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	2013925	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0099 a0001c0002t0001g0099	1	166	0.0060	30	c.346 others(49): Show c.346-52989_346-52960dupATATATATATATATATATATATATAT ATAT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	4/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	2059707	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0054 a0001c0002t0001g0054	1	166	0.0060	30	c.345 others(49): Show c.345+56063_345+56064insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	4/10			chr6	TogoVar
GMEB1_chr1_28663784_28724353	28687387	C C	CACACACA others(23): Show CACACACACACACACACAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	290	0.0035	30	c.129 others(47): Show c.129-2716_129-2715insCACACACACACACACAAAAAAAAAAAAA AA	GMEB1	ENSG00000162419.13	transcript	ENST00000373816.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
GNA12_chr7_2723105_2849308	2812636	A A	AACATCAC others(23): Show AACATCACATCACATCACATCACATCACATC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0049 a0001c0001t0008g0049	1	322	0.0031	30	c.310 others(49): Show c.310-17523_310-17494dupGATGTGATGTGATGTGATGTGATGTG ATGT	GNA12	ENSG00000146535.14	transcript	ENST00000275364.8	protein_coding	1/3			chr7	TogoVar
GNA12_chr7_2723105_2849308	2847432	A A	AATCATTG others(23): Show AATCATTGGGTAATGTATGAGGTCTATTTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	322	0.0031	30	c.-32 others(41): Show c.-3272_-3271insATAAATAGACCTCATACATTACCCAATGAT	GNA12	ENSG00000146535.14	transcript	ENST00000275364.8	protein_coding		3125		chr7	TogoVar
GNA15_chr19_3131033_3168749	3145359	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	450	0.0022	30	c.146 others(47): Show c.146-3231_146-3230insATATATATATATATATATATATATATAT TT	GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
GNAT3_chr7_80453635_80517064	80497671	C C	CATATACG others(23): Show CATATACGTATATACATATACGTATATACAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	334	0.0030	30	c.119 others(47): Show c.119-3025_119-3024insATGTATATACGTATATGTATATACGTAT AT	GNAT3	ENSG00000214415.4	transcript	ENST00000398291.4	protein_coding	1/7			chr7	TogoVar
GNB1_chr1_1780286_1896087	1864314	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	336	0.0030	30	c.-95 others(49): Show c.-95-25077_-95-25076insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	GNB1	ENSG00000078369.19	transcript	ENST00000378609.9	protein_coding	1/11			chr1	TogoVar
GNB5_chr15_52110100_52196392	52117102	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG02602.hp2 HG00099.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0330 a0001c0001t0034g0346 a0001c0001t0034g0330 a0001c0001t0034g0346	2	366	0.0055	30	c.56 others(41): Show c.5654_*5655insAATATATATATATATATATATATATATATA	GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding	13/13	5654		chr15	TogoVar
GNB5_chr15_52110100_52196392	52117102	A A	ATATATAT others(23): Show ATATATATATATATATATATATTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0081 a0002c0007t0081	a0002c0007t0081g0175 a0002c0007t0081g0175	1	366	0.0027	30	c.56 others(41): Show c.5654_*5655insAAAAAAAAAATATATATATATATATATATA	GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding	13/13	5654		chr15	TogoVar
GNE_chr9_36209441_36263448	36216327	A A	ATGTGTGT others(23): Show ATGTGTGTGTGTGTGTGCGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18984.hp1 NA19091.hp1 NA18984.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0023 a0001c0001t0038g0040 a0001c0001t0038g0023 a0001c0001t0038g0040	2	374	0.0054	30	c.10 others(41): Show c.1037_*1038insCACACACACACACGCACACACACACACACA	GNE	ENSG00000159921.20	transcript	ENST00000642385.2	protein_coding	12/12	1037		chr9	TogoVar
GNE_chr9_36209441_36263448	36216327	A A	ATGTGTGT others(23): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02735.hp1 HG03540.hp1 HG02735.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0076 a0001c0001t0067 a0001c0001t0076	a0001c0001t0067g0153 a0001c0001t0076g0136 a0001c0001t0067g0153 a0001c0001t0076g0136	2	374	0.0054	30	c.10 others(41): Show c.1037_*1038insCACACACACACACACACACACACACACACA	GNE	ENSG00000159921.20	transcript	ENST00000642385.2	protein_coding	12/12	1037		chr9	TogoVar
GNE_chr9_36209441_36281978	36216327	A A	ATGTGTGT others(23): Show ATGTGTGTGTGTGTGTGCGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18984.hp1 NA19091.hp1 NA18984.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0126 a0001c0001t0036g0127 a0001c0001t0036g0126 a0001c0001t0036g0127	2	356	0.0056	30	c.10 others(41): Show c.1037_*1038insCACACACACACACGCACACACACACACACA	GNE	ENSG00000159921.20	transcript	ENST00000396594.8	protein_coding	12/12	1037		chr9	TogoVar

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