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
FUT8_chr14_65407730_65749121	65677151	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01168.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0059 a0001c0001t0002g0055 a0001c0001t0002g0059	2	374	0.0054	30	c.835 others(47): Show c.835+7672_835+7673insTGTGTGTGTGTGTGCGCGCGCGCGCGCG CG	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FXR1_chr3_180907670_180987753	180964673	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0056 a0001c0001t0012g0056	1	320	0.0031	30	c.119 others(49): Show c.1198+1611_1198+1612insTATATATATATATATATATATATATA TATA	FXR1	ENSG00000114416.19	transcript	ENST00000357559.9	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
FXR2_chr17_7586230_7619897	7609980	A A	ATATACAT others(23): Show ATATACATACATGTATATATATACATGTATG	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	426	0.0024	30	c.82- others(45): Show c.82-3832_82-3831insCATACATGTATATATATACATGTATGTATA	FXR2	ENSG00000129245.13	transcript	ENST00000250113.12	protein_coding	1/16			chr17	TogoVar
FXYD4_chr10_43366636_43381335	43367417	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00735.hp2 HG02451.hp1 others(18): Show HG00609.hp1 HG00735.hp2 HG02451.hp1 HG02622.hp2 HG02922.hp1 HG03139.hp2 HG03225.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03669.hp2 HG04184.hp1 HG04199.hp2 NA18956.hp2 NA18980.hp2 NA19002.hp1 NA19011.hp2 NA19065.hp1 NA19080.hp1 NA19090.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0011 others(4): Show a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0031	21	426	0.0493	30	c.-45 others(41): Show c.-4559_-4558insTATATATATATATATATATATATATATATA	FXYD4	ENSG00000150201.15	transcript	ENST00000476166.6	protein_coding		4218		chr10	TogoVar
FXYD5_chr19_35149735_35174881	35161221	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00673.hp2 HG01978.hp1 others(21): Show HG00423.hp1 HG00673.hp2 HG01978.hp1 HG02451.hp2 HG02683.hp2 HG02976.hp2 HG03195.hp1 HG03239.hp2 HG03516.hp2 NA18942.hp1 NA18960.hp1 NA18968.hp1 NA18970.hp1 NA18978.hp1 NA18981.hp2 NA18984.hp2 NA18986.hp2 NA18987.hp2 NA19000.hp1 NA19010.hp2 NA19064.hp2 NA19070.hp2 NA19082.hp1 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004	a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0071 others(13): Show a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0071 a0001c0001t0001g0168 a0001c0001t0001g0234 a0001c0001t0002g0089 a0001c0001t0002g0235 a0001c0001t0003g0004 a0001c0001t0003g0018 a0001c0001t0003g0118 a0002c0002t0001g0082 a0002c0002t0002g0081 a0002c0002t0002g0167 a0002c0002t0003g0256 a0002c0002t0003g0257 a0002c0002t0004g0204	24	462	0.0520	30	c.292 others(45): Show c.292+447_292+448insCACACACACACACACACACACACACACACA	FXYD5	ENSG00000089327.15	transcript	ENST00000392219.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
FYCO1_chr3_45912903_46000824	45962003	A A	ATACAAGC others(23): Show ATACAAGCTTCCACTTGTATCAGCTGCCTGG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0123 a0001c0002t0004g0123	1	336	0.0030	30	c.343 others(47): Show c.3437+192_3437+221dupCCAGGCAGCTGATACAAGTGGAAGCTTG TA	FYCO1	ENSG00000163820.16	transcript	ENST00000296137.7	protein_coding	11/17			chr3	TogoVar
FYTTD1_chr3_197744883_197792596	197792577	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01192.hp1 HG01192.hp2 others(23): Show HG01069.hp2 HG01192.hp1 HG01192.hp2 HG01346.hp2 HG01361.hp2 HG01891.hp1 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02293.hp1 HG02451.hp1 HG02683.hp2 HG02922.hp2 HG02976.hp1 HG03017.hp1 HG03195.hp1 HG03492.hp1 HG03579.hp2 HG03654.hp2 HG03710.hp1 HG03942.hp1 HG03942.hp2 NA18952.hp2 NA18973.hp1 NA18986.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 others(8): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 a0001c0001t0022 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0044 a0001c0005t0013 a0002c0002t0002 a0002c0002t0033	a0001c0001t0001g0074 a0001c0001t0001g0105 a0001c0001t0001g0116 others(23): Show a0001c0001t0001g0074 a0001c0001t0001g0105 a0001c0001t0001g0116 a0001c0001t0001g0126 a0001c0001t0001g0145 a0001c0001t0001g0172 a0001c0001t0001g0186 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0205 a0001c0001t0001g0214 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0006g0100 a0001c0001t0014g0188 a0001c0001t0022g0128 a0001c0001t0034g0071 a0001c0001t0036g0224 a0001c0001t0037g0148 a0001c0001t0044g0149 a0001c0005t0013g0206 a0002c0002t0002g0005 a0002c0002t0002g0023 a0002c0002t0033g0055	26	256	0.1016	30	c.10 others(43): Show c.10668_*10669insTATATATATATATATATATATATATATATA	FYTTD1	ENSG00000122068.13	transcript	ENST00000241502.9	protein_coding		4982		chr3	TogoVar
FZD7_chr2_202028855_202043441	202040052	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0000 a0001c0001t0004g0000	1	420	0.0024	30	c.36 others(41): Show c.3680_*3681insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	FZD7	ENSG00000155760.3	transcript	ENST00000286201.3	protein_coding		1612		chr2	TogoVar
G3BP2_chr4_75637786_75678411	75643295	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19030.hp2 NA19087.hp1 NA19030.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0045 a0001c0001t0038 a0001c0001t0045	a0001c0001t0038g0051 a0001c0001t0045g0092 a0001c0001t0038g0051 a0001c0001t0045g0092	2	330	0.0061	30	c.21 others(41): Show c.2134_*2135insTATATATATATATATATATATATATATATA	G3BP2	ENSG00000138757.15	transcript	ENST00000359707.9	protein_coding	12/12	2134		chr4	TogoVar
GAA_chr17_80096581_80124881	80120357	C C	CCCTCCCC others(23): Show CCCTCCCCTCCTCCCCTCCCCTCTCACCTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0011 a0003c0003t0011	a0003c0003t0011g0072 a0003c0003t0011g0072	1	416	0.0024	30	c.10 others(41): Show c.1026_*1027insCCTCCCCTCCTCCCCTCCCCTCTCACCTGA	GAA	ENSG00000171298.14	transcript	ENST00000302262.8	protein_coding		477		chr17	TogoVar
GAB1_chr4_143331876_143479565	143373856	T T	TCTCTCTC others(23): Show TCTCTCTCTCTGTAAATAAATAAATAAATAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0078 a0001c0001t0004g0078	1	194	0.0052	30	c.72+ others(47): Show c.72+36596_72+36597insCTCTCTCTCTGTAAATAAATAAATAAAT AA	GAB1	ENSG00000109458.10	transcript	ENST00000262994.9	protein_coding	1/9			chr4	TogoVar
GAB1_chr4_143331876_143479565	143373864	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02630.hp2 HG03491.hp1 others(2): Show HG00099.hp1 HG02630.hp2 HG03491.hp1 HG06807.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0072 a0001c0001t0002g0023 a0001c0001t0002g0028 others(2): Show a0001c0001t0001g0072 a0001c0001t0002g0023 a0001c0001t0002g0028 a0001c0001t0002g0031 a0001c0001t0003g0045	5	194	0.0258	30	c.72+ others(47): Show c.72+36607_72+36608insTATATATATATATATATATATATATATA TA	GAB1	ENSG00000109458.10	transcript	ENST00000262994.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
GAB2_chr11_78210293_78422820	78267857	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03453.hp1 HG02717.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0021 a0001c0004t0041 a0001c0002t0021 a0001c0004t0041	a0001c0002t0021g0126 a0001c0004t0041g0101 a0001c0002t0021g0126 a0001c0004t0041g0101	2	288	0.0069	30	c.376 others(49): Show c.376+12743_376+12744insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding	2/9			chr11	TogoVar
GAB2_chr11_78210293_78422820	78307614	G G	GAGAGAGA others(23): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02486.hp2 HG02717.hp2 others(4): Show HG02257.hp1 HG02486.hp2 HG02717.hp2 HG02965.hp1 HG03098.hp2 HG03139.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0008 a0001c0003t0004 a0001c0003t0008	a0001c0003t0004g0132 a0001c0003t0004g0133 a0001c0003t0008g0095 others(4): Show a0001c0003t0004g0132 a0001c0003t0004g0133 a0001c0003t0008g0095 a0001c0003t0008g0096 a0001c0003t0008g0097 a0001c0003t0008g0098 a0001c0003t0008g0228	7	288	0.0243	30	c.76- others(47): Show c.76-26714_76-26713insGTCTCTCTCTCTCTCTCTCTCTCTCTCT CT	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding	1/9			chr11	TogoVar
GAB2_chr11_78210293_78422820	78309971	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02922.hp2 HG02818.hp2 HG02922.hp2	a0001 a0003 a0001 a0003	a0001c0008 a0003c0006 a0001c0008 a0003c0006	a0001c0008t0053 a0003c0006t0007 a0001c0008t0053 a0003c0006t0007	a0001c0008t0053g0123 a0003c0006t0007g0271 a0001c0008t0053g0123 a0003c0006t0007g0271	2	288	0.0069	30	c.76- others(47): Show c.76-29071_76-29070insGCGCGCACACACACACACACACACACAC AC	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding	1/9			chr11	TogoVar
GAB2_chr11_78210293_78422820	78398041	C C	CACACACA others(23): Show CACACACACACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03098.hp1 HG02622.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0046 a0001c0005t0013 a0001c0001t0046 a0001c0005t0013	a0001c0001t0046g0116 a0001c0005t0013g0131 a0001c0001t0046g0116 a0001c0005t0013g0131	2	288	0.0069	30	c.75+ others(47): Show c.75+19604_75+19605insATGTGTGTGTGTGTGTGTGTGTGTGTGT GT	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding	1/9			chr11	TogoVar
GAB3_chrX_154670249_154756077	154672242	T T	TTTCTTCC others(23): Show TTTCTTCCTCTTCTTCTTCTTCTTCTTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 NA18971.hp1 HG02976.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0135 a0001c0001t0002g0007 a0001c0001t0001g0135 a0001c0001t0002g0007	2	257	0.0078	30	c.59 others(41): Show c.5935_*5936insGAAGAAGAAGAAGAAGAAGAAGAGGAAGAA	GAB3	ENSG00000160219.12	transcript	ENST00000424127.3	protein_coding		3006		chrX	TogoVar
GABBR2_chr9_98283109_98713935	98436286	T T	TATATATA others(23): Show TATATATATATATATATATATATATCCATAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03041.hp2 HG02280.hp2 HG03041.hp2	a0001 a0002 a0001 a0002	a0001c0015 a0002c0014 a0001c0015 a0002c0014	a0001c0015t0014 a0002c0014t0006 a0001c0015t0014 a0002c0014t0006	a0001c0015t0014g0039 a0002c0014t0006g0068 a0001c0015t0014g0039 a0002c0014t0006g0068	2	164	0.0122	30	c.123 others(51): Show c.1236+17694_1236+17695insTTATGGATATATATATATATATAT ATATAT	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	7/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98447063	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG04228.hp2 NA18967.hp2 others(1): Show HG00741.hp2 HG04228.hp2 NA18967.hp2 NA19007.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0008 a0001c0001 a0001c0002 a0002c0008	a0001c0001t0001 a0001c0001t0008 a0001c0002t0023 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0023 a0002c0008t0004	a0001c0001t0001g0150 a0001c0001t0008g0094 a0001c0002t0023g0151 others(1): Show a0001c0001t0001g0150 a0001c0001t0008g0094 a0001c0002t0023g0151 a0002c0008t0004g0161	4	164	0.0244	30	c.123 others(49): Show c.1236+6917_1236+6918insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	7/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98463609	C C	CTCTCGCT others(23): Show CTCTCGCTCTCCGTCTCGCTCTCGCTCTCCG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG03710.hp1 HG03831.hp1 others(2): Show HG02135.hp2 HG03710.hp1 HG03831.hp1 NA18982.hp2 NA19002.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0006 others(1): Show a0001c0001 a0001c0002 a0002c0006 a0002c0010	a0001c0001t0012 a0001c0001t0021 a0001c0002t0009 others(2): Show a0001c0001t0012 a0001c0001t0021 a0001c0002t0009 a0002c0006t0007 a0002c0010t0007	a0001c0001t0012g0117 a0001c0001t0021g0106 a0001c0002t0009g0095 others(2): Show a0001c0001t0012g0117 a0001c0001t0021g0106 a0001c0002t0009g0095 a0002c0006t0007g0033 a0002c0010t0007g0032	5	164	0.0305	30	c.100 others(49): Show c.1000-9393_1000-9392insCGGAGAGCGAGAGCGAGACGGAGAGC GAGA	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	6/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98648116	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTATAGATAGATAG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01261.hp2 HG01884.hp1 HG01256.hp1 HG01261.hp2 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0001t0011 a0001c0002t0001 a0001c0001t0008 a0001c0001t0011 a0001c0002t0001	a0001c0001t0008g0107 a0001c0001t0011g0055 a0001c0002t0001g0127 a0001c0001t0008g0107 a0001c0001t0011g0055 a0001c0002t0001g0127	3	164	0.0183	30	c.321 others(49): Show c.321+60300_321+60301insCTATCTATCTATACACACACACACAC ACAC	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	1/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98648116	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTGTGTATAGATAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02809.hp2 HG03139.hp2 others(1): Show HG01109.hp2 HG02809.hp2 HG03139.hp2 HG04184.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0002c0004	a0001c0001t0015 a0001c0003t0008 a0001c0005t0013 others(1): Show a0001c0001t0015 a0001c0003t0008 a0001c0005t0013 a0002c0004t0006	a0001c0001t0015g0020 a0001c0003t0008g0089 a0001c0005t0013g0118 others(1): Show a0001c0001t0015g0020 a0001c0003t0008g0089 a0001c0005t0013g0118 a0002c0004t0006g0101	4	164	0.0244	30	c.321 others(49): Show c.321+60300_321+60301insCTATCTATACACACACACACACACAC ACAC	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	1/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98688394	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0003 a0001c0021t0003	a0001c0021t0003g0049 a0001c0021t0003g0049	1	164	0.0061	30	c.321 others(49): Show c.321+20022_321+20023insATATATATATATATATATATATATAT ATAT	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	1/18			chr9	TogoVar
GABRA2_chr4_46238548_46395128	46264986	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp1 HG03453.hp1 others(1): Show HG02055.hp1 HG02145.hp1 HG03453.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0084 a0001c0001t0093 others(1): Show a0001c0001t0056 a0001c0001t0084 a0001c0001t0093 a0001c0001t0123	a0001c0001t0056g0030 a0001c0001t0084g0061 a0001c0001t0093g0076 others(1): Show a0001c0001t0056g0030 a0001c0001t0084g0061 a0001c0001t0093g0076 a0001c0001t0123g0136	4	258	0.0155	30	c.857 others(47): Show c.857-2859_857-2858insATATATATATATATATATATATATATAT AT	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	8/9			chr4	TogoVar
GABRA3_chrX_152161234_152456315	152182633	C C	CTATATAT others(23): Show CTATATATACACTATATATACATATATAGTG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02922.hp2 HG03492.hp1 others(1): Show HG02559.hp1 HG02922.hp2 HG03492.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0001 a0001c0001t0002 a0001c0001t0013	a0001c0001t0001g0139 a0001c0001t0001g0194 a0001c0001t0002g0002 others(1): Show a0001c0001t0001g0139 a0001c0001t0001g0194 a0001c0001t0002g0002 a0001c0001t0013g0180	4	204	0.0196	30	c.114 others(49): Show c.1143+7067_1143+7096dupCACTATATATGTATATATAGTGTATA TATA	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	9/9			chrX	TogoVar
GABRA3_chrX_152161234_152456315	152294893	C C	CGTTTGCT others(23): Show CGTTTGCTCCAACAGCTGCAGGTCTGTTGGA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02886.hp1 HG01496.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0189 a0001c0001t0001g0095 a0001c0001t0001g0189	2	204	0.0098	30	c.263 others(49): Show c.263-10188_263-10159dupTCCAACAGACCTGCAGCTGTTGGAGC AAAC	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	3/9			chrX	TogoVar
GABRA5_chr15_26862062_26954208	26911388	C C	CACACACA others(23): Show CACACACACAAACACACACAAACACACACAA	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	376	0.0027	30	c.498 others(47): Show c.498-3396_498-3395insAACACACACAAACACACACAAACACACA CA	GABRA5	ENSG00000186297.12	transcript	ENST00000335625.10	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRB1_chr4_47026567_47431447	47125559	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01361.hp2 NA20805.hp2 HG00735.hp2 HG01361.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0009g0046 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0009g0046	3	158	0.0190	30	c.241 others(49): Show c.241-35676_241-35675insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	GABRB1	ENSG00000163288.14	transcript	ENST00000295454.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
GABRB1_chr4_47026567_47431447	47246371	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA18906.hp2 HG02258.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0005 a0001c0001t0004 a0001c0003t0005	a0001c0001t0004g0025 a0001c0003t0005g0026 a0001c0001t0004g0025 a0001c0003t0005g0026	2	158	0.0127	30	c.462 others(49): Show c.462-73755_462-73754insCACACACACACACACACACACACACA CACA	GABRB1	ENSG00000163288.14	transcript	ENST00000295454.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
GABRB2_chr5_161283436_161551725	161416696	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp2 NA18982.hp1 HG01358.hp2 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0255 a0001c0001t0001g0162 a0001c0001t0001g0255	2	266	0.0075	30	c.459 others(47): Show c.459-5640_459-5639insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	GABRB2	ENSG00000145864.14	transcript	ENST00000393959.6	protein_coding	4/9			chr5	TogoVar
GABRB3_chr15_26538552_26778066	26554021	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp1 HG03471.hp2 HG01891.hp2 HG02145.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008	a0001c0001t0002g0107 a0001c0001t0006g0128 a0001c0001t0008g0056 a0001c0001t0002g0107 a0001c0001t0006g0128 a0001c0001t0008g0056	3	204	0.0147	30	c.108 others(49): Show c.1081-5888_1081-5887insTATATATATATATATATATATATATA TATA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26554039	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG00673.hp1 others(6): Show HG00140.hp2 HG00639.hp2 HG00673.hp1 HG01071.hp2 HG01081.hp2 NA18980.hp1 NA18989.hp1 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0013 a0001c0001t0002g0069 a0001c0001t0002g0113 others(6): Show a0001c0001t0002g0013 a0001c0001t0002g0069 a0001c0001t0002g0113 a0001c0001t0002g0129 a0001c0001t0002g0133 a0001c0001t0002g0142 a0001c0001t0002g0173 a0001c0001t0002g0176 a0001c0001t0003g0167	9	204	0.0441	30	c.108 others(49): Show c.1081-5906_1081-5905insAATATATATATATATATATATATATA TATA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26554043	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0139 a0001c0001t0003g0139	1	204	0.0049	30	c.108 others(49): Show c.1081-5910_1081-5909insAATATATATATATATATATATATATA TATA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26554176	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02896.hp1 HG03471.hp1 HG02698.hp1 HG02896.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0034 a0001c0001t0001 a0001c0001t0015 a0001c0001t0034	a0001c0001t0001g0188 a0001c0001t0015g0197 a0001c0001t0034g0203 a0001c0001t0001g0188 a0001c0001t0015g0197 a0001c0001t0034g0203	3	204	0.0147	30	c.108 others(49): Show c.1081-6043_1081-6042insTATATATATATATATATATATATATA TATA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26554190	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0087 a0001c0001t0004g0087	1	204	0.0049	30	c.108 others(49): Show c.1081-6057_1081-6056insATATATATATATATATATATATATAT ATAT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26554190	A A	ATAAAGTG others(23): Show ATAAAGTGTGTATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0190 a0001c0001t0008g0190	1	204	0.0049	30	c.108 others(49): Show c.1081-6057_1081-6056insATATATATATATATATATATACACAC TTTA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRG1_chr4_46030769_46129054	46118132	G G	GTGTATAT others(23): Show GTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0298 a0001c0002t0007g0299 a0001c0002t0007g0298 a0001c0002t0007g0299	2	308	0.0065	30	c.104 others(47): Show c.104+5677_104+5678insTATATATATATATATATATATATATATA CA	GABRG1	ENSG00000163285.8	transcript	ENST00000295452.5	protein_coding	1/8			chr4	TogoVar
GABRG1_chr4_46030769_46129054	46128321	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02886.hp1 HG03516.hp2 HG02486.hp2 HG02886.hp1 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0012 a0001c0002t0004 a0001c0002t0012	a0001c0002t0004g0025 a0001c0002t0004g0038 a0001c0002t0012g0021 a0001c0002t0004g0025 a0001c0002t0004g0038 a0001c0002t0012g0021	3	308	0.0097	30	c.-44 others(41): Show c.-4409_-4408insATATATATATATATATATATATATATATAT	GABRG1	ENSG00000163285.8	transcript	ENST00000295452.5	protein_coding		4268		chr4	TogoVar
GABRG3_chr15_26966181_27546984	27265882	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp1 NA19030.hp2 HG01884.hp1 HG02145.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0005 a0001c0002 a0001c0003 a0001c0005	a0001c0002t0001 a0001c0003t0019 a0001c0005t0005 a0001c0002t0001 a0001c0003t0019 a0001c0005t0005	a0001c0002t0001g0009 a0001c0003t0019g0064 a0001c0005t0005g0045 a0001c0002t0001g0009 a0001c0003t0019g0064 a0001c0005t0005g0045	3	92	0.0326	30	c.271 others(49): Show c.271-60912_271-60911insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27307595	A A	ATATTTAT others(23): Show ATATTTATATATAAACATAGGTTTATAGGTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA18522.hp1 HG03471.hp1 NA18522.hp1	a0001 a0001	a0001c0005 a0001c0007 a0001c0005 a0001c0007	a0001c0005t0002 a0001c0007t0004 a0001c0005t0002 a0001c0007t0004	a0001c0005t0002g0055 a0001c0007t0004g0056 a0001c0005t0002g0055 a0001c0007t0004g0056	2	92	0.0217	30	c.271 others(49): Show c.271-19210_271-19181dupTTATATATAAACATAGGTTTATAGGT TTAT	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRR2_chr6_89249464_89320299	89292830	G G	GTATATAC others(23): Show GTATATACGATATATCGTATATATCATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0045 a0001c0001t0005g0045	1	366	0.0027	30	c.220 others(47): Show c.220+6899_220+6928dupATATATGATATATACGATATATCGTATA TA	GABRR2	ENSG00000111886.11	transcript	ENST00000402938.4	protein_coding	2/8			chr6	TogoVar
GADL1_chr3_30721197_30899661	30867439	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02132.hp1 HG03491.hp2 others(4): Show HG01981.hp2 HG02132.hp1 HG03491.hp2 NA18612.hp1 NA18957.hp1 NA19066.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 a0001c0001t0036	a0001c0001t0001g0083 a0001c0001t0001g0096 a0001c0001t0001g0261 others(4): Show a0001c0001t0001g0083 a0001c0001t0001g0096 a0001c0001t0001g0261 a0001c0001t0002g0089 a0001c0001t0003g0275 a0001c0001t0018g0079 a0001c0001t0036g0100	7	282	0.0248	30	c.38- others(45): Show c.38-5675_38-5674insGTATATATATATATATATATATATATATAT	GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding	1/14			chr3	TogoVar
GADL1_chr3_30721197_30899661	30895247	T T	TTGTGTGT others(23): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 NA18950.hp2 HG03471.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0058 a0001c0001t0004g0117 a0001c0001t0001g0058 a0001c0001t0004g0117	2	282	0.0071	30	c.-63 others(39): Show c.-634_-633insCACACACACACACACACACACACACACACA	GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding		587		chr3	TogoVar
GAGE12H_chrX_49574949_49592301	49591724	T T	TAGTACTG others(23): Show TAGTACTGACCCAAGAATAGACCCAGTTCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00438.hp1 others(113): Show HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01257.hp1 HG01257.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02257.hp1 HG02257.hp2 HG02293.hp1 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03130.hp1 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03710.hp1 HG03927.hp1 HG03927.hp2 HG04204.hp1 NA18522.hp1 NA18942.hp1 NA18942.hp2 NA18947.hp1 NA18947.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18965.hp1 NA18968.hp1 NA18968.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18986.hp1 NA18988.hp1 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19060.hp1 NA19063.hp1 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011	a0001c0001 a0001c0002 a0001c0004 others(11): Show a0001c0001 a0001c0002 a0001c0004 a0001c0011 a0002c0003 a0003c0005 a0004c0006 a0005c0007 a0006c0010 a0007c0013 a0008c0008 a0009c0014 a0010c0012 a0011c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(21): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0009 a0001c0004t0001 a0001c0011t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0003c0005t0001 a0003c0005t0007 a0004c0006t0001 a0005c0007t0002 a0006c0010t0010 a0007c0013t0002 a0008c0008t0004 a0009c0014t0001 a0010c0012t0001 a0011c0009t0011	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(89): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0003g0004 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0071 a0001c0001t0003g0079 a0001c0001t0008g0018 a0001c0002t0001g0011 a0001c0002t0001g0017 a0001c0002t0001g0046 a0001c0002t0001g0082 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0002g0001 a0001c0002t0002g0006 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0047 a0001c0002t0002g0055 a0001c0002t0004g0010 a0001c0002t0004g0073 a0001c0002t0004g0075 a0001c0002t0004g0076 a0001c0002t0004g0077 a0001c0002t0004g0089 a0001c0002t0005g0019 a0001c0002t0005g0020 a0001c0002t0005g0022 a0001c0002t0006g0021 a0001c0002t0009g0001 a0001c0004t0001g0028 a0001c0004t0001g0040 a0001c0004t0001g0045 a0001c0004t0001g0048 a0001c0004t0001g0074 a0001c0011t0001g0064 a0002c0003t0001g0005 a0002c0003t0001g0049 a0002c0003t0001g0058 a0002c0003t0001g0065 a0002c0003t0001g0066 a0002c0003t0001g0067 a0002c0003t0001g0068 a0002c0003t0001g0069 a0002c0003t0001g0070 a0002c0003t0001g0087 a0002c0003t0002g0051 a0002c0003t0002g0052 a0002c0003t0002g0053 a0002c0003t0002g0054 a0002c0003t0002g0088 a0002c0003t0005g0080 a0002c0003t0005g0081 a0003c0005t0001g0060 a0003c0005t0001g0061 a0003c0005t0001g0063 a0003c0005t0001g0091 a0003c0005t0007g0062 a0004c0006t0001g0056 a0004c0006t0001g0057 a0004c0006t0001g0072 a0005c0007t0002g0083 a0005c0007t0002g0084 a0006c0010t0010g0023 a0007c0013t0002g0050 a0008c0008t0004g0078 a0009c0014t0001g0012 a0010c0012t0001g0059 a0011c0009t0011g0090	116	116	1.0000	30	c.45 others(41): Show c.4514_*4515insAGTACTGACCCAAGAATAGACCCAGTTCAG	GAGE12H	ENSG00000224902.6	transcript	ENST00000381722.2	protein_coding		4424		chrX	TogoVar
GAGE2A_chrX_49584496_49601824	49591724	T T	TAGTACTG others(23): Show TAGTACTGACCCAAGAATAGACCCAGTTCAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(123): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00639.hp1 HG00639.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01175.hp2 HG01256.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02965.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp1 NA18747.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18948.hp1 NA18952.hp1 NA18959.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18967.hp1 NA18972.hp1 NA18972.hp2 NA18980.hp1 NA18980.hp2 NA18987.hp1 NA18987.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19086.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0002 a0001c0004 a0001c0005 others(8): Show a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0010 a0002c0001 a0003c0003 a0004c0007 a0005c0011 a0006c0008	a0001c0002t0001 a0001c0002t0005 a0001c0004t0001 others(15): Show a0001c0002t0001 a0001c0002t0005 a0001c0004t0001 a0001c0004t0004 a0001c0005t0001 a0001c0005t0007 a0001c0005t0008 a0001c0006t0001 a0001c0009t0001 a0001c0010t0001 a0002c0001t0001 a0002c0001t0002 a0002c0001t0006 a0003c0003t0001 a0003c0003t0003 a0004c0007t0002 a0005c0011t0005 a0006c0008t0001	a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0011 others(88): Show a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0011 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0001g0059 a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0094 a0001c0002t0005g0084 a0001c0004t0001g0007 a0001c0004t0001g0062 a0001c0004t0001g0064 a0001c0004t0001g0073 a0001c0004t0001g0093 a0001c0004t0004g0004 a0001c0005t0001g0072 a0001c0005t0001g0074 a0001c0005t0001g0075 a0001c0005t0001g0087 a0001c0005t0001g0089 a0001c0005t0001g0090 a0001c0005t0007g0018 a0001c0005t0008g0056 a0001c0006t0001g0061 a0001c0006t0001g0078 a0001c0009t0001g0071 a0001c0010t0001g0053 a0002c0001t0001g0001 a0002c0001t0001g0008 a0002c0001t0001g0009 a0002c0001t0001g0012 a0002c0001t0001g0013 a0002c0001t0001g0014 a0002c0001t0001g0021 a0002c0001t0001g0027 a0002c0001t0001g0028 a0002c0001t0001g0029 a0002c0001t0001g0030 a0002c0001t0001g0031 a0002c0001t0001g0032 a0002c0001t0001g0033 a0002c0001t0001g0034 a0002c0001t0001g0035 a0002c0001t0001g0079 a0002c0001t0001g0083 a0002c0001t0001g0086 a0002c0001t0002g0003 a0002c0001t0002g0005 a0002c0001t0002g0036 a0002c0001t0002g0037 a0002c0001t0002g0038 a0002c0001t0002g0039 a0002c0001t0002g0040 a0002c0001t0002g0041 a0002c0001t0002g0085 a0002c0001t0006g0080 a0002c0001t0006g0081 a0003c0003t0001g0017 a0003c0003t0001g0023 a0003c0003t0001g0024 a0003c0003t0001g0025 a0003c0003t0001g0026 a0003c0003t0001g0042 a0003c0003t0001g0091 a0003c0003t0001g0092 a0003c0003t0003g0022 a0003c0003t0003g0043 a0003c0003t0003g0046 a0003c0003t0003g0047 a0003c0003t0003g0048 a0003c0003t0003g0051 a0003c0003t0003g0052 a0003c0003t0003g0088 a0004c0007t0002g0082 a0005c0011t0005g0058 a0006c0008t0001g0060	126	130	0.9692	30	c.202 others(45): Show c.202+409_202+410insTACTGACCCAAGAATAGACCCAGTTCAGAG	GAGE2A	ENSG00000189064.9	transcript	ENST00000362097.2	protein_coding	3/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
GAK_chr4_844277_937316	894256	G G	GCGCAGGG others(23): Show GCGCAGGGGTGACACCGGGGCCTGCGGGGAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(75): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp1 HG00673.hp2 HG00741.hp1 HG01106.hp2 HG01175.hp2 HG01261.hp1 HG01261.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02155.hp2 HG02280.hp1 HG02486.hp1 HG02559.hp1 HG02622.hp2 HG02698.hp1 HG02723.hp2 HG02735.hp2 HG02818.hp2 HG02886.hp1 HG02965.hp1 HG02976.hp2 HG03017.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03831.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18940.hp1 NA18944.hp1 NA18944.hp2 NA18949.hp2 NA18961.hp1 NA18966.hp1 NA18967.hp2 NA18970.hp1 NA18973.hp2 NA18975.hp2 NA18986.hp1 NA18992.hp2 NA18994.hp2 NA18995.hp2 NA18997.hp2 NA19000.hp1 NA19007.hp1 NA19009.hp2 NA19012.hp1 NA19060.hp1 NA19066.hp2 NA19070.hp1 NA19079.hp2 NA19082.hp2 NA19091.hp2 NA20752.hp2 NA21309.hp2	a0001 a0003 a0004 others(6): Show a0001 a0003 a0004 a0005 a0007 a0016 a0018 a0020 a0024	a0001c0001 a0001c0004 a0001c0008 others(12): Show a0001c0001 a0001c0004 a0001c0008 a0001c0023 a0001c0033 a0001c0046 a0001c0047 a0003c0006 a0004c0009 a0005c0044 a0007c0015 a0016c0032 a0018c0029 a0020c0045 a0024c0020	a0001c0001t0001 a0001c0004t0001 a0001c0004t0002 others(13): Show a0001c0001t0001 a0001c0004t0001 a0001c0004t0002 a0001c0008t0001 a0001c0023t0001 a0001c0033t0001 a0001c0046t0001 a0001c0047t0001 a0003c0006t0001 a0004c0009t0001 a0005c0044t0001 a0007c0015t0001 a0016c0032t0001 a0018c0029t0008 a0020c0045t0001 a0024c0020t0001	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 others(75): Show a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0322 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0346 a0001c0004t0001g0057 a0001c0004t0001g0058 a0001c0004t0001g0061 a0001c0004t0001g0062 a0001c0004t0001g0063 a0001c0004t0001g0064 a0001c0004t0001g0066 a0001c0004t0001g0067 a0001c0004t0001g0068 a0001c0004t0001g0069 a0001c0004t0001g0070 a0001c0004t0001g0071 a0001c0004t0001g0072 a0001c0004t0001g0075 a0001c0004t0001g0076 a0001c0004t0001g0081 a0001c0004t0001g0082 a0001c0004t0001g0083 a0001c0004t0001g0084 a0001c0004t0001g0085 a0001c0004t0001g0089 a0001c0004t0001g0090 a0001c0004t0001g0091 a0001c0004t0001g0092 a0001c0004t0001g0094 a0001c0004t0001g0095 a0001c0004t0001g0096 a0001c0004t0001g0104 a0001c0004t0001g0106 a0001c0004t0001g0110 a0001c0004t0002g0105 a0001c0008t0001g0097 a0001c0008t0001g0098 a0001c0008t0001g0099 a0001c0008t0001g0100 a0001c0008t0001g0101 a0001c0008t0001g0307 a0001c0008t0001g0308 a0001c0008t0001g0309 a0001c0008t0001g0310 a0001c0023t0001g0077 a0001c0033t0001g0053 a0001c0046t0001g0080 a0001c0047t0001g0065 a0003c0006t0001g0287 a0003c0006t0001g0298 a0004c0009t0001g0261 a0004c0009t0001g0262 a0005c0044t0001g0102 a0007c0015t0001g0023 a0007c0015t0001g0263 a0007c0015t0001g0264 a0016c0032t0001g0052 a0018c0029t0008g0087 a0020c0045t0001g0093 a0024c0020t0001g0006	78	390	0.2000	30	c.742 others(45): Show c.742-248_742-247insTTCCCCGCAGGCCCCGGTGTCACCCCTGCG	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	7/27			chr4	TogoVar
GALC_chr14_87928014_87998182	87936896	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02165.hp1 HG02280.hp1 others(2): Show HG00621.hp1 HG02165.hp1 HG02280.hp1 HG02723.hp1 NA18963.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0002 a0001c0001t0001 a0002c0004t0002	a0001c0001t0001g0092 a0001c0001t0001g0100 a0001c0001t0001g0313 others(2): Show a0001c0001t0001g0092 a0001c0001t0001g0100 a0001c0001t0001g0313 a0001c0001t0001g0314 a0002c0004t0002g0284	5	370	0.0135	30	c.191 others(49): Show c.1912-2019_1912-2018insTATATATATATATATATATATATATA TATA	GALC	ENSG00000054983.17	transcript	ENST00000261304.7	protein_coding	16/16			chr14	TogoVar
GALK2_chr15_49165247_49336882	49228682	T T	TATATATA others(23): Show TATATATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03453.hp1 HG03516.hp1 HG02258.hp1 HG03453.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0068 a0001c0001t0002g0165 a0001c0001t0002g0166	3	348	0.0086	30	c.267 others(47): Show c.267-7163_267-7162insATATATATATATATATATACATACATAT AT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALK2_chr15_49165247_49336882	49228682	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG06807.hp2 HG03486.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0048 a0001c0001t0002 a0001c0005t0048	a0001c0001t0002g0077 a0001c0005t0048g0064 a0001c0001t0002g0077 a0001c0005t0048g0064	2	348	0.0058	30	c.267 others(47): Show c.267-7163_267-7162insATATATATATATATATATATATACATAT AT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALNT10_chr5_154185733_154425984	154293613	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0233 a0001c0004t0001g0233	1	236	0.0042	30	c.160 others(47): Show c.160-1202_160-1201insATATATATATATATATATATATATATTT TT	GALNT10	ENSG00000164574.16	transcript	ENST00000297107.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar

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