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
FSTL4_chr5_133191455_133617541	133607049	ATCTGGAA others(10): Show ATCTGGAAACAGGAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp1 HG00609.hp2 others(43): Show HG00099.hp1 HG00544.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG00738.hp2 HG01070.hp2 HG01167.hp2 HG01192.hp1 HG01243.hp2 HG01891.hp2 HG02071.hp1 HG02145.hp1 HG02155.hp1 HG02280.hp2 HG02486.hp1 HG02615.hp2 HG02717.hp1 HG03041.hp2 HG03098.hp2 HG03239.hp2 HG03471.hp2 HG03491.hp2 HG03516.hp2 HG03579.hp1 HG03704.hp1 HG04115.hp1 HG04228.hp1 NA18747.hp1 NA18906.hp2 NA18941.hp1 NA18942.hp2 NA18945.hp1 NA18967.hp1 NA18980.hp2 NA18982.hp2 NA18985.hp1 NA18988.hp2 NA18994.hp1 NA19009.hp1 NA19009.hp2 NA19043.hp1 NA19063.hp2 NA21309.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0006 a0002c0002 others(2): Show a0001c0001 a0001c0006 a0002c0002 a0004c0016 a0005c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0006t0001 a0001c0006t0003 a0002c0002t0002 a0004c0016t0001 a0005c0005t0004	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0028 others(43): Show a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0003g0025 a0001c0001t0003g0031 a0001c0001t0003g0033 a0001c0001t0003g0036 a0001c0001t0003g0051 a0001c0001t0003g0057 a0001c0001t0003g0059 a0001c0001t0004g0027 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0004g0054 a0001c0001t0004g0055 a0001c0001t0006g0015 a0001c0001t0006g0017 a0001c0001t0010g0056 a0001c0006t0001g0053 a0001c0006t0003g0022 a0002c0002t0002g0018 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0026 a0002c0002t0002g0032 a0002c0002t0002g0035 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0046 a0002c0002t0002g0048 a0004c0016t0001g0045 a0005c0005t0004g0034	46	176	0.2614	-17	c.-10 others(34): Show c.-10-3073_-10-3057delGTTTTCCTGTTTCCAGA	FSTL4	ENSG00000053108.18	transcript	ENST00000265342.12	protein_coding	1/15			chr5	TogoVar
FSTL5_chr4_161378897_162169000	161686329	TATATATA others(10): Show TATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0104 a0001c0001t0003g0104	1	142	0.0070	-17	c.728 others(36): Show c.728-29852_728-29836delTATATATATATATATAT	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	6/15			chr4	TogoVar
FSTL5_chr4_161378897_162169000	161686330	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02572.hp2 HG03130.hp1 others(2): Show HG02258.hp1 HG02572.hp2 HG03130.hp1 NA18968.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0003t0001	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0002g0009 others(2): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0002g0009 a0001c0001t0014g0101 a0001c0003t0001g0041	5	142	0.0352	-17	c.728 others(36): Show c.728-29853_728-29837delATATATATATATATATA	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	6/15			chr4	TogoVar
FSTL5_chr4_161378897_162169000	161686332	ATATATAT others(10): Show ATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03486.hp1 HG02109.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0042 a0001c0003t0002g0008 a0001c0001t0001g0042 a0001c0003t0002g0008	2	142	0.0141	-17	c.728 others(36): Show c.728-29855_728-29839delAAATATATATATATATA	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	6/15			chr4	TogoVar
FSTL5_chr4_161378897_162169000	161686334	ATATATAT others(10): Show ATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0102 a0001c0003t0013g0102	1	142	0.0070	-17	c.728 others(36): Show c.728-29857_728-29841delAAAAATATATATATATA	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	6/15			chr4	TogoVar
FSTL5_chr4_161378897_162169000	161686338	ATATATAT others(10): Show ATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0011 a0001c0010t0002g0011	1	142	0.0070	-17	c.728 others(36): Show c.728-29861_728-29845delAAAAAAAAATATATATA	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	6/15			chr4	TogoVar
FSTL5_chr4_161378897_162169000	161979153	TCAGAGGC others(10): Show TCAGAGGCTTGAAATGTC	T T	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0023 a0001c0002t0001g0023	1	142	0.0070	-17	c.160 others(36): Show c.160+54455_160+54471delGACATTTCAAGCCTCTG	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	3/15			chr4	TogoVar
FSTL5_chr4_161378897_162169000	162066318	TTCTTCTT others(10): Show TTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0006 a0001c0001t0011g0006	1	142	0.0070	-17	c.127 others(36): Show c.127-32677_127-32661delGAAGAAGAAGAAGAAGA	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	2/15			chr4	TogoVar
FST_chr5_53475629_53492134	53484295	TAGGTATT others(10): Show TAGGTATTCTGGATTGAG	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19059.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0070 a0001c0001t0010g0070	1	462	0.0022	-17	c.721 others(29): Show c.721+3_721+19delAGGTATTCTGGATTGAG	FST	ENSG00000134363.12	transcript	ENST00000256759.8	protein_coding	4/5			chr5	TogoVar
FTO_chr16_53699156_54126941	53774496	GTGGCCTG others(10): Show GTGGCCTGGCTCTGTTTC	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0185 a0001c0001t0036g0185	1	194	0.0052	-17	c.46- others(34): Show c.46-35626_46-35610delTGGCCTGGCTCTGTTTC	FTO	ENSG00000140718.22	transcript	ENST00000471389.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
FTO_chr16_53699156_54126941	53815636	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03471.hp1 NA18906.hp2 others(2): Show HG03139.hp2 HG03471.hp1 NA18906.hp2 NA19030.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0017 a0001c0001t0027 a0001c0001t0034 others(2): Show a0001c0001t0017 a0001c0001t0027 a0001c0001t0034 a0001c0001t0045 a0001c0002t0003	a0001c0001t0017g0022 a0001c0001t0027g0144 a0001c0001t0034g0047 others(2): Show a0001c0001t0017g0022 a0001c0001t0027g0144 a0001c0001t0034g0047 a0001c0001t0045g0183 a0001c0002t0003g0150	5	194	0.0258	-17	c.123 others(34): Show c.123+5433_123+5449delTTTTTTTTTTTTTTTTT	FTO	ENSG00000140718.22	transcript	ENST00000471389.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
FTO_chr16_53699156_54126941	54057050	GACACGGA others(10): Show GACACGGAGTCAGAGAAC	G G	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18998.hp1 NA18975.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0165 a0001c0001t0001g0099 a0001c0001t0001g0165	2	194	0.0103	-17	c.136 others(38): Show c.1365-54709_1365-54693delACGGAGTCAGAGAACAC	FTO	ENSG00000140718.22	transcript	ENST00000471389.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
FTO_chr16_53699156_54126941	54065968	ACTTACTA others(10): Show ACTTACTAACTTATACAG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00673.hp2 HG00735.hp2 others(21): Show HG00558.hp1 HG00673.hp2 HG00735.hp2 HG01261.hp1 HG02132.hp1 HG02135.hp1 HG02647.hp1 HG02896.hp1 HG02970.hp2 HG03017.hp2 HG03195.hp2 HG03471.hp2 HG06807.hp1 NA18941.hp1 NA18948.hp2 NA18950.hp1 NA18962.hp2 NA18968.hp2 NA18970.hp2 NA18984.hp1 NA19007.hp1 NA19054.hp2 NA19066.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(15): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0020 a0001c0001t0022 a0001c0001t0025 a0001c0001t0028 a0001c0001t0030 a0001c0001t0035 a0001c0001t0041 a0001c0001t0049 a0001c0001t0057 a0001c0001t0059 a0001c0001t0060 a0003c0005t0014	a0001c0001t0001g0031 a0001c0001t0001g0115 a0001c0001t0001g0116 others(21): Show a0001c0001t0001g0031 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0003g0036 a0001c0001t0003g0068 a0001c0001t0007g0156 a0001c0001t0011g0078 a0001c0001t0013g0021 a0001c0001t0013g0044 a0001c0001t0013g0171 a0001c0001t0014g0025 a0001c0001t0020g0079 a0001c0001t0022g0013 a0001c0001t0025g0061 a0001c0001t0028g0182 a0001c0001t0030g0019 a0001c0001t0035g0118 a0001c0001t0041g0075 a0001c0001t0049g0127 a0001c0001t0057g0193 a0001c0001t0059g0162 a0001c0001t0060g0067 a0003c0005t0014g0168	24	194	0.1237	-17	c.136 others(38): Show c.1365-45791_1365-45775delTACTAACTTATACAGCT	FTO	ENSG00000140718.22	transcript	ENST00000471389.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
FUNDC2_chrX_155021844_155065304	155042175	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0168 a0001c0001t0043g0168	1	267	0.0038	-17	c.285 others(34): Show c.285-4321_285-4305delTTTTTTTTTTTTTTTTT	FUNDC2	ENSG00000165775.18	transcript	ENST00000369498.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
FUS_chr16_31175139_31196605	31192675	CTCAGGAG others(10): Show CTCAGGAGAATCCCAGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01069.hp2 HG01071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0024	2	346	0.0058	-17	c.12 others(28): Show c.1238_*1254delTCAGGAGAATCCCAGCT	FUS	ENSG00000089280.19	transcript	ENST00000254108.12	protein_coding		1071		chr16	TogoVar
FUT10_chr8_33365824_33478146	33431547	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02895.hp1 HG03579.hp2 HG02486.hp1 HG02895.hp1 HG03579.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0009 a0001c0001 a0005c0009	a0001c0001t0007 a0005c0009t0001 a0001c0001t0007 a0005c0009t0001	a0001c0001t0007g0111 a0001c0001t0007g0112 a0005c0009t0001g0134 a0001c0001t0007g0111 a0001c0001t0007g0112 a0005c0009t0001g0134	3	268	0.0112	-17	c.376 others(36): Show c.376+21652_376+21668delTTTTTTTTTTTTTTTTT	FUT10	ENSG00000172728.16	transcript	ENST00000327671.10	protein_coding	3/4			chr8	TogoVar
FUT10_chr8_33365824_33478146	33470236	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA18747.hp2 HG02258.hp2 NA18747.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0051 a0002c0002t0001g0052	2	268	0.0075	-17	c.-27 others(36): Show c.-274+2811_-274+2827delTTTTTTTTTTTTTTTTT	FUT10	ENSG00000172728.16	transcript	ENST00000327671.10	protein_coding	1/4			chr8	TogoVar
FUT2_chr19_48690971_48710951	48707871	GAAAGAAA others(10): Show GAAAGAAAGAAAGAAAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0000 a0002c0000	a0002c0000t0013 a0002c0000t0013	a0002c0000t0013g0025 a0002c0000t0013g0025	1	394	0.0025	-17	c.38 others(28): Show c.3884_*3900delAAAGAAAGAAAGAAAGA	FUT2	ENSG00000176920.14	transcript	ENST00000425340.3	protein_coding		1921		chr19	TogoVar
FUT8_chr14_65407730_65749121	65534289	ATTTTTAT others(10): Show ATTTTTATTTTATTTTAT	A A	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01515.hp1 HG01517.hp2 HG01168.hp1 HG01515.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097	3	374	0.0080	-17	c.-22 others(38): Show c.-227-27026_-227-27010delTATTTTATTTTATTTTT	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65576696	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02572.hp1 HG02717.hp1 others(3): Show HG01884.hp1 HG02572.hp1 HG02717.hp1 HG02809.hp1 HG02818.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0088 a0001c0001t0008g0210 a0001c0001t0008g0284 others(3): Show a0001c0001t0008g0088 a0001c0001t0008g0210 a0001c0001t0008g0284 a0001c0001t0008g0285 a0001c0001t0008g0286 a0001c0001t0008g0287	6	374	0.0160	-17	c.203 others(36): Show c.203+14955_203+14971delTTTTTTTTTTTTTTTTT	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FXYD1_chr19_35133824_35148109	35148027	GAAAGAAA others(10): Show GAAAGAAAGAAAGAAAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	408	0.0025	-17	c.51 others(28): Show c.5141_*5157delAAAGAAAGAAAGAAAGA	FXYD1	ENSG00000266964.6	transcript	ENST00000351325.9	protein_coding		4919		chr19	TogoVar
FXYD2_chr11_117815057_117829744	117820229	ATTGAGTC others(10): Show ATTGAGTCTGGAGCTTCC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0080 a0001c0001t0010g0080	1	482	0.0021	-17	c.13 others(26): Show c.133_*149delGGAAGCTCCAGACTCAA	FXYD2	ENSG00000137731.14	transcript	ENST00000292079.7	protein_coding	6/6	426		chr11	TogoVar
FYB1_chr5_39100252_39224563	39148152	TTTTTATA others(10): Show TTTTTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0290 a0001c0003t0001g0290	1	326	0.0031	-17	c.129 others(36): Show c.1292+5279_1292+5295delTATATATATATATAAAA	FYB1	ENSG00000082074.19	transcript	ENST00000512982.4	protein_coding	3/18			chr5	TogoVar
FYB1_chr5_39100252_39224563	39148381	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0325 a0001c0001t0004g0325	1	326	0.0031	-17	c.129 others(36): Show c.1292+5050_1292+5066delAAAAAAAAAAAAAAAAA	FYB1	ENSG00000082074.19	transcript	ENST00000512982.4	protein_coding	3/18			chr5	TogoVar
FYN_chr6_111655332_111878452	111773335	AAAGGGAG others(10): Show AAAGGGAGAGGGAGAGGG	A A	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	234	0.0043	-17	c.-12 others(34): Show c.-12+7214_-12+7230delCCCTCTCCCTCTCCCTT	FYN	ENSG00000010810.18	transcript	ENST00000354650.7	protein_coding	3/13			chr6	TogoVar
FYN_chr6_111655332_111878452	111845276	CCAGAAGG others(10): Show CCAGAAGGGTCACAGTAT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18964.hp1 NA18973.hp2 others(1): Show HG00558.hp2 NA18964.hp1 NA18973.hp2 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0181 a0001c0001t0004g0192 a0001c0001t0004g0193 others(1): Show a0001c0001t0004g0181 a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0004g0194	4	234	0.0171	-17	c.-82 others(34): Show c.-82+1296_-82+1312delATACTGTGACCCTTCTG	FYN	ENSG00000010810.18	transcript	ENST00000354650.7	protein_coding	2/13			chr6	TogoVar
FZD10_chr12_130157464_130170740	130157480	TCTTTTCT others(10): Show TCTTTTCTCATATATTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0000 a0001c0002t0024g0000	1	450	0.0022	-17	c.-54 others(28): Show c.-5462_-5446delCTTTTCTCATATATTCC	FZD10	ENSG00000111432.5	transcript	ENST00000229030.5	protein_coding		4983		chr12	TogoVar
G6PC1_chr17_42895799_42919438	42917121	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0135 a0001c0005t0005g0135	1	366	0.0027	-17	c.56 others(28): Show c.5696_*5712delTTTTTTTTTTTTTTTTT	G6PC1	ENSG00000131482.10	transcript	ENST00000253801.7	protein_coding		2684		chr17	TogoVar
GABBR2_chr9_98283109_98713935	98349344	GTTTTGTT others(10): Show GTTTTGTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02965.hp2 HG02922.hp1 HG02965.hp2	a0001 a0002 a0001 a0002	a0001c0021 a0002c0026 a0001c0021 a0002c0026	a0001c0021t0003 a0002c0026t0002 a0001c0021t0003 a0002c0026t0002	a0001c0021t0003g0049 a0002c0026t0002g0013 a0001c0021t0003g0049 a0002c0026t0002g0013	2	164	0.0122	-17	c.189 others(38): Show c.1893+13354_1893+13370delAAAAAAAAAAAACAAAA	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	13/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98414725	CATGTGAC others(10): Show CATGTGACAGTCCTACCA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0057 a0001c0001t0017g0057	1	164	0.0061	-17	c.123 others(36): Show c.1237-8601_1237-8585delTGGTAGGACTGTCACAT	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	7/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98460811	CAGGCAAG others(10): Show CAGGCAAGATGAACACAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00621.hp1 HG00735.hp1 others(52): Show HG00099.hp1 HG00621.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01106.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01952.hp2 HG01975.hp2 HG02145.hp2 HG02165.hp2 HG02280.hp2 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02647.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG03041.hp2 HG03098.hp2 HG03471.hp2 HG03492.hp1 HG03710.hp2 HG04199.hp2 NA18952.hp1 NA18959.hp1 NA18963.hp2 NA18964.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18982.hp1 NA18984.hp1 NA18994.hp2 NA18995.hp2 NA19007.hp1 NA19010.hp2 NA19240.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(15): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0015 a0001c0025 a0002c0006 a0002c0008 a0002c0009 a0002c0010 a0002c0011 a0002c0012 a0002c0014 a0002c0020 a0002c0023 a0002c0026 a0002c0027	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(38): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0022 a0001c0001t0042 a0001c0001t0043 a0001c0002t0001 a0001c0002t0005 a0001c0002t0008 a0001c0002t0009 a0001c0002t0012 a0001c0002t0018 a0001c0002t0021 a0001c0002t0023 a0001c0002t0040 a0001c0003t0001 a0001c0003t0005 a0001c0003t0022 a0001c0003t0028 a0001c0005t0013 a0001c0007t0011 a0001c0015t0014 a0001c0025t0010 a0002c0006t0004 a0002c0006t0007 a0002c0008t0004 a0002c0008t0007 a0002c0009t0004 a0002c0010t0004 a0002c0010t0007 a0002c0011t0004 a0002c0012t0002 a0002c0014t0006 a0002c0020t0037 a0002c0023t0004 a0002c0026t0002 a0002c0027t0002	a0001c0001t0001g0128 a0001c0001t0003g0004 a0001c0001t0003g0065 others(52): Show a0001c0001t0001g0128 a0001c0001t0003g0004 a0001c0001t0003g0065 a0001c0001t0005g0092 a0001c0001t0005g0143 a0001c0001t0008g0094 a0001c0001t0008g0107 a0001c0001t0015g0042 a0001c0001t0016g0037 a0001c0001t0019g0126 a0001c0001t0022g0108 a0001c0001t0042g0098 a0001c0001t0043g0077 a0001c0002t0001g0127 a0001c0002t0001g0136 a0001c0002t0001g0140 a0001c0002t0001g0157 a0001c0002t0001g0163 a0001c0002t0005g0124 a0001c0002t0008g0103 a0001c0002t0008g0133 a0001c0002t0009g0130 a0001c0002t0012g0097 a0001c0002t0012g0152 a0001c0002t0018g0093 a0001c0002t0021g0114 a0001c0002t0023g0151 a0001c0002t0040g0147 a0001c0003t0001g0087 a0001c0003t0001g0099 a0001c0003t0005g0123 a0001c0003t0022g0083 a0001c0003t0028g0058 a0001c0005t0013g0080 a0001c0005t0013g0081 a0001c0007t0011g0052 a0001c0015t0014g0039 a0001c0025t0010g0012 a0002c0006t0004g0145 a0002c0006t0007g0006 a0002c0006t0007g0024 a0002c0008t0004g0086 a0002c0008t0004g0161 a0002c0008t0007g0059 a0002c0009t0004g0113 a0002c0010t0004g0082 a0002c0010t0007g0028 a0002c0011t0004g0122 a0002c0011t0004g0125 a0002c0012t0002g0017 a0002c0014t0006g0068 a0002c0020t0037g0001 a0002c0023t0004g0129 a0002c0026t0002g0013 a0002c0027t0002g0062	55	164	0.3354	-17	c.100 others(36): Show c.1000-6611_1000-6595delTTGTGTTCATCTTGCCT	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	6/18			chr9	TogoVar
GABPB1_chr15_50270389_50360198	50337112	TATATATA others(10): Show TATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0312 a0001c0001t0001g0312	1	366	0.0027	-17	c.-1+ others(34): Show c.-1+17856_-1+17872delTATATATATATATATAT	GABPB1	ENSG00000104064.18	transcript	ENST00000380877.8	protein_coding	1/8			chr15	TogoVar
GABPB2_chr1_151065761_151130542	151114342	CATAATAA others(10): Show CATAATAAATAAATAAAT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG06807.hp1 NA19240.hp2 HG02615.hp2 HG06807.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066	a0001c0001t0064g0001 a0001c0001t0065g0002 a0001c0001t0066g0003 a0001c0001t0064g0001 a0001c0001t0065g0002 a0001c0001t0066g0003	3	264	0.0114	-17	c.923 others(34): Show c.923-3048_923-3032delTAATAAATAAATAAATA	GABPB2	ENSG00000143458.12	transcript	ENST00000368918.8	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
GABPB2_chr1_151065761_151130542	151122213	GGTTTTCT others(10): Show GGTTTTCTCCACAGATCT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00673.hp2 HG01069.hp1 HG01071.hp2 others(19): Show HG00673.hp2 HG01069.hp1 HG01071.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp2 HG01975.hp1 HG01978.hp1 HG02647.hp1 HG02683.hp2 HG02717.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG02976.hp2 HG03195.hp1 HG03516.hp2 HG03579.hp1 NA18522.hp1 NA18906.hp1 NA19043.hp2 NA20805.hp2	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0002 a0003c0003 a0005c0005 a0002c0002 a0003c0003 a0005c0005	a0002c0002t0056 a0003c0003t0006 a0003c0003t0007 others(4): Show a0002c0002t0056 a0003c0003t0006 a0003c0003t0007 a0003c0003t0063 a0005c0005t0006 a0005c0005t0069 a0005c0005t0070	a0002c0002t0056g0077 a0003c0003t0006g0227 a0003c0003t0006g0231 others(19): Show a0002c0002t0056g0077 a0003c0003t0006g0227 a0003c0003t0006g0231 a0003c0003t0006g0235 a0003c0003t0007g0222 a0003c0003t0007g0250 a0003c0003t0007g0251 a0003c0003t0007g0253 a0003c0003t0007g0254 a0003c0003t0007g0255 a0003c0003t0007g0256 a0003c0003t0007g0257 a0003c0003t0063g0252 a0005c0005t0006g0228 a0005c0005t0006g0229 a0005c0005t0006g0230 a0005c0005t0006g0233 a0005c0005t0006g0234 a0005c0005t0006g0236 a0005c0005t0006g0239 a0005c0005t0069g0237 a0005c0005t0070g0232	22	264	0.0833	-17	c.39 others(28): Show c.3976_*3992delTTTTCTCCACAGATCTG	GABPB2	ENSG00000143458.12	transcript	ENST00000368918.8	protein_coding	9/9	3976	INFO_REALIGN_3_PRIME	chr1	TogoVar
GABRB1_chr4_47026567_47431447	47272972	TACTGTAA others(10): Show TACTGTAATGATGAGTTC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00438.hp2 others(135): Show HG00280.hp1 HG00438.hp1 HG00438.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01175.hp2 HG01255.hp1 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18965.hp1 NA18965.hp2 NA18974.hp1 NA18974.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18994.hp1 NA18994.hp2 NA19005.hp1 NA19005.hp2 NA19030.hp2 NA19062.hp1 NA19062.hp2 NA19074.hp1 NA19074.hp2 NA19082.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0002c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(36): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0006 a0001c0003t0007 a0001c0003t0008 a0001c0003t0010 a0001c0003t0011 a0001c0003t0012 a0001c0004t0001 a0001c0004t0003 a0001c0004t0004 a0001c0004t0005 a0001c0004t0010 a0001c0005t0003 a0001c0006t0005 a0001c0006t0006 a0001c0007t0005 a0001c0008t0001 a0001c0009t0001 a0002c0011t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(135): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0120 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0002g0032 a0001c0001t0002g0040 a0001c0001t0002g0058 a0001c0001t0002g0061 a0001c0001t0002g0073 a0001c0001t0002g0077 a0001c0001t0002g0092 a0001c0001t0002g0097 a0001c0001t0002g0111 a0001c0001t0002g0131 a0001c0001t0002g0136 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0003g0006 a0001c0001t0003g0011 a0001c0001t0003g0085 a0001c0001t0004g0025 a0001c0001t0004g0082 a0001c0001t0004g0102 a0001c0001t0004g0106 a0001c0001t0004g0138 a0001c0001t0004g0150 a0001c0001t0004g0152 a0001c0001t0005g0119 a0001c0001t0005g0149 a0001c0001t0006g0062 a0001c0001t0006g0133 a0001c0001t0007g0013 a0001c0001t0007g0069 a0001c0001t0008g0017 a0001c0001t0008g0147 a0001c0001t0009g0031 a0001c0001t0009g0046 a0001c0002t0001g0003 a0001c0002t0001g0034 a0001c0002t0001g0036 a0001c0002t0001g0089 a0001c0002t0001g0101 a0001c0002t0001g0140 a0001c0002t0002g0018 a0001c0002t0002g0093 a0001c0002t0003g0071 a0001c0002t0004g0055 a0001c0002t0004g0083 a0001c0002t0004g0104 a0001c0002t0004g0105 a0001c0002t0004g0112 a0001c0002t0004g0113 a0001c0002t0004g0125 a0001c0002t0005g0039 a0001c0002t0007g0064 a0001c0002t0008g0010 a0001c0003t0001g0091 a0001c0003t0001g0141 a0001c0003t0001g0157 a0001c0003t0002g0086 a0001c0003t0002g0087 a0001c0003t0002g0103 a0001c0003t0002g0142 a0001c0003t0002g0148 a0001c0003t0003g0005 a0001c0003t0003g0098 a0001c0003t0004g0117 a0001c0003t0005g0024 a0001c0003t0005g0026 a0001c0003t0005g0033 a0001c0003t0005g0050 a0001c0003t0005g0060 a0001c0003t0006g0004 a0001c0003t0006g0015 a0001c0003t0006g0128 a0001c0003t0007g0146 a0001c0003t0008g0027 a0001c0003t0010g0028 a0001c0003t0010g0070 a0001c0003t0011g0056 a0001c0003t0012g0139 a0001c0004t0001g0042 a0001c0004t0001g0115 a0001c0004t0001g0116 a0001c0004t0001g0153 a0001c0004t0003g0043 a0001c0004t0004g0051 a0001c0004t0005g0081 a0001c0004t0010g0020 a0001c0005t0003g0009 a0001c0005t0003g0012 a0001c0005t0003g0054 a0001c0005t0003g0130 a0001c0005t0003g0137 a0001c0005t0003g0144 a0001c0006t0005g0100 a0001c0006t0006g0041 a0001c0006t0006g0126 a0001c0006t0006g0129 a0001c0007t0005g0127 a0001c0007t0005g0132 a0001c0007t0005g0134 a0001c0007t0005g0135 a0001c0008t0001g0035 a0001c0008t0001g0044 a0001c0009t0001g0124 a0002c0011t0002g0096	138	158	0.8734	-17	c.462 others(36): Show c.462-47148_462-47132delATGATGAGTTCACTGTA	GABRB1	ENSG00000163288.14	transcript	ENST00000295454.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
GABRB2_chr5_161283436_161551725	161393299	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00642.hp1 others(59): Show HG00408.hp1 HG00408.hp2 HG00642.hp1 HG01074.hp1 HG01168.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01884.hp2 HG01975.hp2 HG02004.hp2 HG02071.hp1 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02165.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02738.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03492.hp2 HG04199.hp2 NA18906.hp2 NA18940.hp2 NA18942.hp2 NA18953.hp2 NA18954.hp1 NA18962.hp2 NA18963.hp1 NA18965.hp2 NA18970.hp1 NA18983.hp1 NA18984.hp2 NA18993.hp1 NA19000.hp1 NA19057.hp2 NA19062.hp1 NA19074.hp1 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(18): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0022 a0001c0001t0023 a0001c0001t0026 a0001c0001t0029 a0001c0001t0040 a0001c0001t0041 a0001c0001t0055 a0001c0002t0011 a0001c0002t0012 a0001c0002t0014 a0001c0002t0018 a0001c0002t0025 a0001c0002t0037	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(58): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0154 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0195 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0217 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0003g0056 a0001c0001t0003g0070 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0076 a0001c0001t0003g0082 a0001c0001t0003g0111 a0001c0001t0003g0160 a0001c0001t0005g0039 a0001c0001t0005g0040 a0001c0001t0005g0041 a0001c0001t0005g0058 a0001c0001t0005g0167 a0001c0001t0005g0172 a0001c0001t0005g0196 a0001c0001t0005g0197 a0001c0001t0005g0213 a0001c0001t0005g0251 a0001c0001t0007g0212 a0001c0001t0008g0021 a0001c0001t0008g0157 a0001c0001t0008g0253 a0001c0001t0013g0001 a0001c0001t0013g0005 a0001c0001t0015g0144 a0001c0001t0016g0075 a0001c0001t0022g0046 a0001c0001t0022g0079 a0001c0001t0023g0128 a0001c0001t0023g0129 a0001c0001t0026g0235 a0001c0001t0029g0168 a0001c0001t0040g0166 a0001c0001t0041g0193 a0001c0001t0055g0067 a0001c0002t0011g0127 a0001c0002t0012g0028 a0001c0002t0014g0218 a0001c0002t0014g0219 a0001c0002t0014g0241 a0001c0002t0018g0233 a0001c0002t0025g0137 a0001c0002t0037g0222	62	266	0.2331	-17	c.541 others(36): Show c.541+17659_541+17675delTTTTTTTTTTTTTTTTT	GABRB2	ENSG00000145864.14	transcript	ENST00000393959.6	protein_coding	5/9			chr5	TogoVar
GABRB2_chr5_161283436_161551725	161489584	TCAGTGAA others(10): Show TCAGTGAAATTACTGAGA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp2 HG01255.hp2 others(12): Show HG00423.hp1 HG00597.hp2 HG01255.hp2 NA18940.hp2 NA18946.hp1 NA18964.hp1 NA18971.hp2 NA18982.hp1 NA18983.hp2 NA19000.hp1 NA19003.hp1 NA19012.hp1 NA19068.hp2 NA19089.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0026 a0001c0002t0018 a0001c0002t0035	a0001c0001t0001g0162 a0001c0001t0001g0229 a0001c0001t0001g0237 others(12): Show a0001c0001t0001g0162 a0001c0001t0001g0229 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0004g0232 a0001c0001t0005g0230 a0001c0001t0005g0231 a0001c0001t0006g0163 a0001c0001t0007g0181 a0001c0001t0026g0235 a0001c0002t0018g0233 a0001c0002t0018g0234 a0001c0002t0018g0236 a0001c0002t0035g0239	15	266	0.0564	-17	c.238 others(36): Show c.238-29757_238-29741delTCTCAGTAATTTCACTG	GABRB2	ENSG00000145864.14	transcript	ENST00000393959.6	protein_coding	3/9			chr5	TogoVar
GABRB3_chr15_26538552_26778066	26634993	TATATATA others(10): Show TATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0200 a0001c0001t0015g0200	1	204	0.0049	-17	c.241 others(36): Show c.241-13476_241-13460delTATATATATATATATAT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26764176	AAAAATAT others(10): Show AAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0198 a0001c0001t0014g0199 a0001c0001t0014g0198 a0001c0001t0014g0199	2	204	0.0098	-17	c.240 others(34): Show c.240+8209_240+8225delATATATATATATATTTT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26764180	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0128 a0001c0001t0006g0128	1	204	0.0049	-17	c.240 others(34): Show c.240+8205_240+8221delATATATATATATATATA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRD_chr1_2014345_2035758	2028789	TAGGAGAG others(10): Show TAGGAGAGAAAGGGGTGA	T T	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	364	0.0028	-17	c.692 others(32): Show c.692-321_692-305delAGGAGAGAAAGGGGTGA	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding	6/8			chr1	TogoVar
GABRG3_chr15_26966181_27546984	27014668	AAACTTGT others(10): Show AAACTTGTTTTGTGGACT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0008 a0001c0008t0008	a0001c0008t0008g0001 a0001c0008t0008g0001	1	92	0.0109	-17	c.203 others(36): Show c.203-12082_203-12066delTTGTTTTGTGGACTAAC	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GAGE10_chrX_49298646_49324841	49300477	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG03453.hp1 HG02055.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	2	302	0.0066	-17	c.-32 others(28): Show c.-3284_-3268delTTTTTTTTTTTTTTTTT	GAGE10	ENSG00000215274.6	transcript	ENST00000407599.4	protein_coding		3168		chrX	TogoVar
GAK_chr4_844277_937316	888378	GGCCACCC others(10): Show GGCCACCCCCGCACAGAC	G G	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0204 a0002c0003t0001g0204	1	390	0.0026	-17	c.120 others(34): Show c.1205+452_1205+468delGTCTGTGCGGGGGTGGC	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	11/27			chr4	TogoVar
GAL3ST1_chr22_30549635_30579665	30574607	GCCGCGCC others(10): Show GCCGCGCCGCGCCCGCTC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0068 a0002c0002t0004g0068	1	452	0.0022	-17	c.-27 others(26): Show c.-278_-262delGAGCGGGCGCGGCGCGG	GAL3ST1	ENSG00000128242.13	transcript	ENST00000406361.6	protein_coding	1/4	17216		chr22	TogoVar
GAL3ST2_chr2_241771822_241809287	241779214	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01069.hp1 HG01109.hp2 others(11): Show HG00735.hp1 HG01069.hp1 HG01109.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG02615.hp1 HG02622.hp1 HG02809.hp2 HG02922.hp1 HG03017.hp1 HG03130.hp1 HG03130.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0007	a0001c0001 a0003c0003 a0005c0005 others(1): Show a0001c0001 a0003c0003 a0005c0005 a0007c0008	a0001c0001t0001 a0001c0001t0002 a0003c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0003c0003t0001 a0005c0005t0001 a0007c0008t0001	a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0002g0073 others(8): Show a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0002g0073 a0001c0001t0002g0076 a0003c0003t0001g0067 a0003c0003t0001g0072 a0003c0003t0001g0074 a0005c0005t0001g0002 a0005c0005t0001g0075 a0007c0008t0001g0068 a0007c0008t0001g0071	14	314	0.0446	-17	c.29+ others(32): Show c.29+2251_29+2267delTTTTTTTTTTTTTTTTT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALC_chr14_87928014_87998182	87958114	CAAGGCTA others(10): Show CAAGGCTATAGTAACCAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00735.hp1 HG00738.hp2 others(26): Show HG00280.hp2 HG00735.hp1 HG00738.hp2 HG01106.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01261.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG02004.hp2 HG02273.hp2 HG02293.hp2 HG02451.hp2 HG02818.hp1 HG03195.hp1 HG03710.hp1 HG03834.hp2 HG04204.hp2 NA18522.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1	a0004 a0007 a0010 others(1): Show a0004 a0007 a0010 a0014	a0004c0003 a0007c0012 a0010c0017 others(1): Show a0004c0003 a0007c0012 a0010c0017 a0014c0018	a0004c0003t0004 a0004c0003t0005 a0007c0012t0008 others(2): Show a0004c0003t0004 a0004c0003t0005 a0007c0012t0008 a0010c0017t0001 a0014c0018t0004	a0004c0003t0004g0009 a0004c0003t0004g0011 a0004c0003t0004g0031 others(19): Show a0004c0003t0004g0009 a0004c0003t0004g0011 a0004c0003t0004g0031 a0004c0003t0004g0032 a0004c0003t0004g0033 a0004c0003t0004g0038 a0004c0003t0004g0039 a0004c0003t0004g0041 a0004c0003t0004g0042 a0004c0003t0004g0043 a0004c0003t0004g0044 a0004c0003t0005g0003 a0004c0003t0005g0008 a0004c0003t0005g0034 a0004c0003t0005g0035 a0004c0003t0005g0036 a0004c0003t0005g0037 a0007c0012t0008g0010 a0007c0012t0008g0046 a0007c0012t0008g0047 a0010c0017t0001g0040 a0014c0018t0004g0045	29	370	0.0784	-17	c.116 others(36): Show c.1161+5253_1161+5269delTTGGTTACTATAGCCTT	GALC	ENSG00000054983.17	transcript	ENST00000261304.7	protein_coding	10/16			chr14	TogoVar
GALK2_chr15_49165247_49336882	49277137	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00733.hp1 others(38): Show HG00140.hp2 HG00408.hp1 HG00733.hp1 HG01070.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01358.hp1 HG01496.hp2 HG01891.hp2 HG01928.hp1 HG01943.hp2 HG01978.hp1 HG02056.hp1 HG02071.hp2 HG02132.hp2 HG02155.hp2 HG02293.hp1 HG02717.hp1 HG03041.hp2 HG03490.hp2 HG03491.hp1 HG03516.hp2 HG03579.hp2 HG03834.hp1 NA18906.hp1 NA18947.hp2 NA18957.hp1 NA18961.hp1 NA18973.hp1 NA18975.hp1 NA18979.hp1 NA18980.hp2 NA18989.hp1 NA19009.hp1 NA19043.hp2 NA19060.hp2 NA19077.hp1 NA19085.hp2 NA20752.hp1 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0007 a0003c0006 a0001c0001 a0001c0007 a0003c0006	a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 others(7): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0022 a0001c0001t0023 a0001c0001t0043 a0001c0007t0001 a0003c0006t0042	a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0254 others(38): Show a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0267 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0291 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0328 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0005g0222 a0001c0001t0012g0247 a0001c0001t0012g0253 a0001c0001t0012g0260 a0001c0001t0012g0261 a0001c0001t0013g0264 a0001c0001t0013g0266 a0001c0001t0013g0268 a0001c0001t0013g0339 a0001c0001t0014g0249 a0001c0001t0014g0344 a0001c0001t0022g0311 a0001c0001t0023g0271 a0001c0001t0023g0274 a0001c0001t0043g0290 a0001c0007t0001g0294 a0003c0006t0042g0263	41	348	0.1178	-17	c.505 others(34): Show c.505-4817_505-4801delTTTTTTTTTTTTTTTTT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALK2_chr15_49165247_49336882	49299718	CTTTCTTT others(10): Show CTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01074.hp2 HG01099.hp1 others(6): Show HG00408.hp2 HG01074.hp2 HG01099.hp1 HG02258.hp1 HG02738.hp1 HG04115.hp2 HG04228.hp1 HG06807.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0068 a0001c0001t0002g0077 a0001c0001t0002g0088 others(6): Show a0001c0001t0002g0068 a0001c0001t0002g0077 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0148 a0001c0001t0002g0244 a0001c0001t0009g0217 a0001c0001t0009g0220 a0001c0001t0009g0243	9	348	0.0259	-17	c.967 others(34): Show c.967+7201_967+7217delTCTTTCTTTCTTTCTTT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALM_chr2_38661114_38739765	38675518	GTTTTTTT others(10): Show GTTTTTTTGTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0253 a0001c0001t0002g0253	1	328	0.0031	-17	c.191 others(32): Show c.191-386_191-370delGTTTTTTTTTTTTTTTT	GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar

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