Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
GSE1_chr16_85608322_85681200	85617596	T T	TCCCCCCC others(13): Show TCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0281 a0001c0002t0006g0281	1	290	0.0035	20	c.7+4 others(33): Show c.7+4213_7+4214insCCCCCCCCCCCCCCCCCCCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GSE1_chr16_85608322_85681200	85627044	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02622.hp2 HG02886.hp1 HG00140.hp1 HG02622.hp2 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0005 a0001c0002t0006 a0001c0002t0001 a0001c0002t0005 a0001c0002t0006	a0001c0002t0001g0018 a0001c0002t0005g0079 a0001c0002t0006g0281 a0001c0002t0001g0018 a0001c0002t0005g0079 a0001c0002t0006g0281	3	290	0.0103	20	c.8-6 others(33): Show c.8-6857_8-6838dupTTTTTTTTTTTTTTTTTTTT	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GSG1L_chr16_27782528_28068714	27888401	C C	CTTCTTTC others(13): Show CTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0088 a0001c0002t0001g0088	1	240	0.0042	20	c.398 others(37): Show c.398-3783_398-3764dupAGAAAGAAAGAAAGAAAGAA	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	2/6			chr16	TogoVar
GSG1L_chr16_27782528_28068714	27888482	C C	CCTTTCTT others(13): Show CCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0099 a0001c0002t0002g0099	1	240	0.0042	20	c.398 others(37): Show c.398-3864_398-3845dupAAAGAAAGAAAGAAAGAAAG	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	2/6			chr16	TogoVar
GSG1L_chr16_27782528_28068714	27911266	G G	GCTCGCTC others(13): Show GCTCGCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0163 a0001c0001t0006g0163	1	240	0.0042	20	c.398 others(39): Show c.398-26629_398-26628insAGAGAGAGAGAGAGAGCGAG	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	2/6			chr16	TogoVar
GSG1L_chr16_27782528_28068714	27928503	G G	GAAAGAAA others(13): Show GAAAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp2 HG02055.hp1 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0231 a0001c0001t0002g0096 a0001c0001t0002g0231	2	240	0.0083	20	c.397 others(39): Show c.397+34652_397+34653insTCTTTTCTTTTCTTTTCTTT	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	2/6			chr16	TogoVar
GSG1L_chr16_27782528_28068714	27946575	A A	AAGAGAGA others(13): Show AAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0069 a0001c0002t0001g0069	1	240	0.0042	20	c.397 others(39): Show c.397+16580_397+16581insCTCTCTCTCTCTCTCTCTCT	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	2/6			chr16	TogoVar
GSG1L_chr16_27782528_28068714	27946579	A A	AAGAAAGA others(13): Show AAGAAAGAAAGAAAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	240	0.0042	20	c.397 others(39): Show c.397+16576_397+16577insCTCTCTCTTTCTTTCTTTCT	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	2/6			chr16	TogoVar
GSG1L_chr16_27782528_28068714	27946579	A A	AAGAAAGA others(13): Show AAGAAAGAAAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0006 a0001c0001t0010g0006	1	240	0.0042	20	c.397 others(39): Show c.397+16576_397+16577insCTCTCTCTCTCTTTCTTTCT	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	2/6			chr16	TogoVar
GSG1L_chr16_27782528_28068714	27947384	A A	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA19084.hp2 HG01081.hp2 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0132 a0001c0002t0001g0203 a0001c0002t0001g0132 a0001c0002t0001g0203	2	240	0.0083	20	c.397 others(39): Show c.397+15752_397+15771dupCTTTCTTTCTTTCTTTCTTT	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	2/6			chr16	TogoVar
GSG1L_chr16_27782528_28068714	27947540	G G	GGAAAGAA others(13): Show GGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG03669.hp1 HG01433.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0081 a0001c0001t0003g0215 a0001c0001t0003g0081 a0001c0001t0003g0215	2	240	0.0083	20	c.397 others(39): Show c.397+15596_397+15615dupTTTCTTTCTTTCTTTCTTTC	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	2/6			chr16	TogoVar
GSG1L_chr16_27782528_28068714	27955882	G G	GAGGAAGG others(13): Show GAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01169.hp2 HG02055.hp2 others(3): Show HG01074.hp2 HG01169.hp2 HG02055.hp2 NA19005.hp1 NA19005.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0043	a0001c0001t0001g0186 a0001c0001t0001g0217 a0001c0001t0002g0144 others(3): Show a0001c0001t0001g0186 a0001c0001t0001g0217 a0001c0001t0002g0144 a0001c0001t0003g0202 a0001c0001t0004g0143 a0001c0002t0043g0224	6	240	0.0250	20	c.397 others(37): Show c.397+7254_397+7273dupTCCTTCCTTCCTTCCTTCCT	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	2/6			chr16	TogoVar
GSG1L_chr16_27782528_28068714	27979642	G G	GGAAAGAA others(13): Show GGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01169.hp2 HG01074.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0144 a0001c0001t0004g0143 a0001c0001t0002g0144 a0001c0001t0004g0143	2	240	0.0083	20	c.350 others(39): Show c.350-16459_350-16440dupTTTCTTTCTTTCTTTCTTTC	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	1/6			chr16	TogoVar
GSG1L_chr16_27782528_28068714	27979726	G G	GGAAGGAA others(13): Show GGAAGGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 NA18998.hp1 NA19064.hp2 HG01168.hp1 NA18998.hp1 NA19064.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0004 a0001c0001t0002 a0002c0003t0004	a0001c0001t0002g0100 a0002c0003t0004g0237 a0002c0003t0004g0238 a0001c0001t0002g0100 a0002c0003t0004g0237 a0002c0003t0004g0238	3	240	0.0125	20	c.350 others(39): Show c.350-16524_350-16523insTTTCCTTCCTTCCTTCCTTC	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	1/6			chr16	TogoVar
GSG1L_chr16_27782528_28068714	28029530	G G	GGGATGGA others(13): Show GGGATGGATGGATGGATGGAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	240	0.0042	20	c.349 others(39): Show c.349+33526_349+33545dupATCCATCCATCCATCCATCC	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	1/6			chr16	TogoVar
GSG1L_chr16_27782528_28068714	28029549	A A	ATGGATGG others(13): Show ATGGATGGATGGATGCATGGG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0071 a0001c0002t0006g0071	1	240	0.0042	20	c.349 others(39): Show c.349+33507_349+33526dupCCCATGCATCCATCCATCCA	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	1/6			chr16	TogoVar
GSG1L_chr16_27782528_28068714	28030756	A A	AATGGGAT others(13): Show AATGGGATGGGATGGGATGGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00609.hp1 HG01074.hp2 others(28): Show HG00280.hp1 HG00609.hp1 HG01074.hp2 HG01169.hp2 HG01257.hp2 HG01361.hp2 HG01496.hp2 HG01891.hp1 HG02055.hp2 HG02071.hp2 HG02080.hp2 HG02155.hp2 HG02257.hp2 HG02630.hp2 HG02698.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp1 HG03139.hp2 HG03209.hp2 HG03471.hp1 HG03490.hp2 HG03540.hp2 HG03704.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG04204.hp2 NA18983.hp2 NA19030.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0001t0019 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0002t0019 a0001c0002t0032 a0001c0002t0043 a0001c0005t0023 a0001c0006t0009	a0001c0001t0001g0038 a0001c0001t0001g0181 a0001c0001t0001g0230 others(28): Show a0001c0001t0001g0038 a0001c0001t0001g0181 a0001c0001t0001g0230 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0064 a0001c0001t0002g0144 a0001c0001t0002g0147 a0001c0001t0003g0005 a0001c0001t0003g0125 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0222 a0001c0001t0004g0143 a0001c0001t0005g0039 a0001c0001t0006g0164 a0001c0001t0014g0019 a0001c0001t0014g0020 a0001c0001t0019g0180 a0001c0002t0001g0059 a0001c0002t0002g0228 a0001c0002t0003g0142 a0001c0002t0006g0071 a0001c0002t0008g0213 a0001c0002t0009g0012 a0001c0002t0010g0037 a0001c0002t0019g0148 a0001c0002t0032g0229 a0001c0002t0043g0224 a0001c0005t0023g0011 a0001c0006t0009g0022	31	240	0.1292	20	c.349 others(39): Show c.349+32300_349+32319dupCCCATCCCATCCCATCCCAT	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	1/6			chr16	TogoVar
GSK3B_chr3_119816321_120099447	119885248	C C	CAAATAAA others(13): Show CAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03098.hp2 NA20129.hp1 HG02630.hp2 HG03098.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0037 a0001c0002t0016 a0001c0001t0037 a0001c0002t0016	a0001c0001t0037g0026 a0001c0002t0016g0202 a0001c0002t0016g0203 a0001c0001t0037g0026 a0001c0002t0016g0202 a0001c0002t0016g0203	3	300	0.0100	20	c.814 others(37): Show c.814-8760_814-8741dupTATTTTATTTTATTTTATTT	GSK3B	ENSG00000082701.17	transcript	ENST00000264235.13	protein_coding	7/10			chr3	TogoVar
GSK3B_chr3_119816321_120099447	119922212	A A	AGGAAGGA others(13): Show AGGAAGGAAGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02723.hp1 HG02922.hp2 HG02055.hp1 HG02723.hp1 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0195 a0001c0002t0007g0196 a0001c0002t0007g0201 a0001c0002t0007g0195 a0001c0002t0007g0196 a0001c0002t0007g0201	3	300	0.0100	20	c.477 others(37): Show c.477+1160_477+1161insCTCCCTCCCTCCTTCCTTCC	GSK3B	ENSG00000082701.17	transcript	ENST00000264235.13	protein_coding	4/10			chr3	TogoVar
GSK3B_chr3_119816321_120099447	119922228	G G	GGGAAGGA others(13): Show GGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01109.hp2 HG02258.hp1 others(4): Show HG01106.hp2 HG01109.hp2 HG02258.hp1 HG02486.hp1 HG03516.hp2 NA18971.hp2 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0022	a0001c0001t0001g0118 a0001c0001t0001g0129 a0001c0001t0001g0130 others(4): Show a0001c0001t0001g0118 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0003g0035 a0001c0001t0003g0049 a0001c0001t0009g0006 a0001c0001t0022g0111	7	300	0.0233	20	c.477 others(37): Show c.477+1125_477+1144dupTTCCTTCCTTCCTTCCTTCC	GSK3B	ENSG00000082701.17	transcript	ENST00000264235.13	protein_coding	4/10			chr3	TogoVar
GSK3B_chr3_119816321_120099447	119954222	G G	GAGAATAG others(13): Show GAGAATAGAATAGAATAGAAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02486.hp2 NA18950.hp1 others(1): Show HG00609.hp1 HG02486.hp2 NA18950.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0022 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0022 a0001c0001t0028	a0001c0001t0002g0282 a0001c0001t0003g0030 a0001c0001t0022g0114 others(1): Show a0001c0001t0002g0282 a0001c0001t0003g0030 a0001c0001t0022g0114 a0001c0001t0028g0084	4	300	0.0133	20	c.283 others(37): Show c.283-6891_283-6872dupATTCTATTCTATTCTATTCT	GSK3B	ENSG00000082701.17	transcript	ENST00000264235.13	protein_coding	2/10			chr3	TogoVar
GSPT1_chr16_11863128_11920956	11881655	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03453.hp2 HG02647.hp2 HG03453.hp2	a0005 a0013 a0005 a0013	a0005c0006 a0013c0017 a0005c0006 a0013c0017	a0005c0006t0014 a0013c0017t0050 a0005c0006t0014 a0013c0017t0050	a0005c0006t0014g0086 a0013c0017t0050g0078 a0005c0006t0014g0086 a0013c0017t0050g0078	2	372	0.0054	20	c.142 others(39): Show c.1428+1359_1428+1360insAAAAAAAAAAAAAAAAAAAA	GSPT1	ENSG00000103342.13	transcript	ENST00000434724.7	protein_coding	11/14			chr16	TogoVar
GSPT1_chr16_11863128_11920956	11892851	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0013 a0001c0001t0027g0013	1	372	0.0027	20	c.699 others(37): Show c.699-1713_699-1712insCTTTTTTTTTTTTTTTTTTT	GSPT1	ENSG00000103342.13	transcript	ENST00000434724.7	protein_coding	5/14			chr16	TogoVar
GSS_chr20_34923432_34960806	34950011	T T	TCACACAC others(13): Show TCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0087 a0001c0001t0006g0087	1	352	0.0028	20	c.129 others(37): Show c.129+1712_129+1713insTGTGTGTGTGTGTGTGTGTG	GSS	ENSG00000100983.12	transcript	ENST00000651619.1	protein_coding	2/12			chr20	TogoVar
GSS_chr20_34923432_34960806	34950013	T T	TCTCACAC others(13): Show TCTCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	352	0.0028	20	c.129 others(37): Show c.129+1710_129+1711insTGTGTGTGTGTGTGTGTGAG	GSS	ENSG00000100983.12	transcript	ENST00000651619.1	protein_coding	2/12			chr20	TogoVar
GSTCD_chr4_105703784_105852725	105766887	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp2 HG03041.hp2 others(1): Show HG01891.hp2 HG02145.hp2 HG03041.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0003 a0001c0001t0014	a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0129 others(1): Show a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0129 a0001c0001t0014g0105	4	186	0.0215	20	c.124 others(41): Show c.1240+37394_1240+37413dupTTTTTTTTTTTTTTTTTTTT	GSTCD	ENSG00000138780.15	transcript	ENST00000515279.6	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
GSTO2_chr10_104264184_104309950	104293563	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01255.hp2 HG01346.hp1 others(2): Show HG01081.hp1 HG01255.hp2 HG01346.hp1 HG02572.hp1 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0045 a0001c0002t0047 a0001c0002t0002 a0001c0002t0045 a0001c0002t0047	a0001c0002t0002g0093 a0001c0002t0002g0099 a0001c0002t0002g0100 others(2): Show a0001c0002t0002g0093 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0045g0123 a0001c0002t0047g0107	5	300	0.0167	20	c.469 others(37): Show c.469-4012_469-3993dupTTTTTTTTTTTTTTTTTTTT	GSTO2	ENSG00000065621.15	transcript	ENST00000338595.7	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
GSTP1_chr11_67578812_67591653	67583377	A A	AATAAAAT others(13): Show AATAAAATAAAAAAATAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	392	0.0026	20	c.-46 others(29): Show c.-467_-466insATAAAATAAAAAAATAAAAT	GSTP1	ENSG00000084207.18	transcript	ENST00000398606.10	protein_coding		434		chr11	TogoVar
GSTP1_chr11_67578812_67591653	67583377	A A	AATAAAAT others(13): Show AATAAAATAAAATAAAAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	392	0.0026	20	c.-46 others(29): Show c.-467_-466insATAAAATAAAATAAAAAAAT	GSTP1	ENSG00000084207.18	transcript	ENST00000398606.10	protein_coding		434		chr11	TogoVar
GSX2_chr4_54095163_54107498	54103607	G G	GCACACAC others(13): Show GCACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	372	0.0027	20	c.16 others(31): Show c.1685_*1686insCACACACACACACACACACA	GSX2	ENSG00000180613.11	transcript	ENST00000326902.7	protein_coding		1110		chr4	TogoVar
GSX2_chr4_54095163_54107498	54104712	G G	GATTATTC others(13): Show GATTATTCCGATTTGAATACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp2 NA18966.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	372	0.0054	20	c.27 others(31): Show c.2790_*2791insATTATTCCGATTTGAATACC	GSX2	ENSG00000180613.11	transcript	ENST00000326902.7	protein_coding		2215		chr4	TogoVar
GTDC1_chr2_143933068_144337512	144133151	A A	ATATATAT others(13): Show ATATATATATAATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0025 a0007c0009t0025	a0007c0009t0025g0078 a0007c0009t0025g0078	1	124	0.0081	20	c.521 others(37): Show c.521+8730_521+8731insATATATATATTATATATATA	GTDC1	ENSG00000121964.15	transcript	ENST00000682281.1	protein_coding	6/11			chr2	TogoVar
GTDC1_chr2_143933068_144337512	144136395	A A	AAAAGGAA others(13): Show AAAAGGAAAGGAAAGGAAAGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02602.hp2 HG03139.hp1 others(2): Show HG00140.hp1 HG02602.hp2 HG03139.hp1 HG04184.hp2 NA20905.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0002 a0009c0008 a0001c0001 a0002c0002 a0009c0008	a0001c0001t0003 a0001c0001t0007 a0002c0002t0001 others(2): Show a0001c0001t0003 a0001c0001t0007 a0002c0002t0001 a0002c0002t0006 a0009c0008t0001	a0001c0001t0003g0100 a0001c0001t0007g0024 a0002c0002t0001g0060 others(2): Show a0001c0001t0003g0100 a0001c0001t0007g0024 a0002c0002t0001g0060 a0002c0002t0006g0065 a0009c0008t0001g0052	5	124	0.0403	20	c.521 others(37): Show c.521+5467_521+5486dupCCTTTCCTTTCCTTTCCTTT	GTDC1	ENSG00000121964.15	transcript	ENST00000682281.1	protein_coding	6/11			chr2	TogoVar
GTDC1_chr2_143933068_144337512	144145983	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0005 a0002c0002t0002g0005	1	124	0.0081	20	c.180 others(35): Show c.180-264_180-245dupTTTTTTTTTTTTTTTTTTTT	GTDC1	ENSG00000121964.15	transcript	ENST00000682281.1	protein_coding	4/11			chr2	TogoVar
GTDC1_chr2_143933068_144337512	144182842	A A	ATATATAT others(13): Show ATATATATAATATATATATAT	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0028 a0001c0001t0017g0028	1	124	0.0081	20	c.179 others(39): Show c.179+25760_179+25761insATATATATATATTATATATA	GTDC1	ENSG00000121964.15	transcript	ENST00000682281.1	protein_coding	4/11			chr2	TogoVar
GTDC1_chr2_143933068_144337512	144262734	T T	TGGGAGGA others(13): Show TGGGAGGAGAGGGGAGGGGAG	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp2 HG03490.hp1 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0112 a0001c0001t0012g0092 a0001c0001t0001g0112 a0001c0001t0012g0092	2	124	0.0161	20	c.-15 others(41): Show c.-150-27017_-150-26998dupCTCCCCTCCCCTCTCCTCCC	GTDC1	ENSG00000121964.15	transcript	ENST00000682281.1	protein_coding	1/11			chr2	TogoVar
GTDC1_chr2_143933068_144337512	144317384	T T	TGGAAGGA others(13): Show TGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02622.hp2 HG02886.hp2 others(2): Show HG01081.hp2 HG02622.hp2 HG02886.hp2 HG03490.hp1 HG03492.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0012 a0001c0001 a0002c0002 a0005c0012	a0001c0001t0001 a0001c0001t0012 a0001c0001t0013 others(2): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0013 a0002c0002t0032 a0005c0012t0003	a0001c0001t0001g0112 a0001c0001t0012g0111 a0001c0001t0013g0062 others(2): Show a0001c0001t0001g0112 a0001c0001t0012g0111 a0001c0001t0013g0062 a0002c0002t0032g0001 a0005c0012t0003g0120	5	124	0.0403	20	c.-15 others(41): Show c.-151+15035_-151+15054dupTTCCTTCCTTCCTTCCTTCC	GTDC1	ENSG00000121964.15	transcript	ENST00000682281.1	protein_coding	1/11			chr2	TogoVar
GTDC1_chr2_143933068_144337512	144318194	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0102 a0001c0001t0040g0102	1	124	0.0081	20	c.-15 others(41): Show c.-151+14225_-151+14244dupGTGTGTGTGTGTGTGTGTGT	GTDC1	ENSG00000121964.15	transcript	ENST00000682281.1	protein_coding	1/11			chr2	TogoVar
GTF2A1L_chr2_48612856_48684604	48624459	T T	TATAGATA others(13): Show TATAGATAGATAGATAGATAG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0002 a0004c0008t0002	a0004c0008t0002g0302 a0004c0008t0002g0302	1	344	0.0029	20	c.247 others(37): Show c.247+3178_247+3197dupATAGATAGATAGATAGATAG	GTF2A1L	ENSG00000242441.8	transcript	ENST00000403751.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
GTF2A1L_chr2_48612856_48684604	48668837	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03225.hp1 HG03486.hp1 HG03139.hp2 HG03225.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0182 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0182	3	344	0.0087	20	c.979 others(35): Show c.979-875_979-856dupAATAAATAAATAAATAAATA	GTF2A1L	ENSG00000242441.8	transcript	ENST00000403751.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
GTF2A1_chr14_81170452_81225959	81211873	C C	CTATATAT others(13): Show CTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02602.hp2 HG03195.hp1 others(3): Show HG02055.hp1 HG02602.hp2 HG03195.hp1 HG03471.hp1 HG03486.hp2 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0012 a0001c0001t0014 others(2): Show a0001c0001t0008 a0001c0001t0012 a0001c0001t0014 a0001c0001t0043 a0001c0001t0051	a0001c0001t0008g0174 a0001c0001t0012g0098 a0001c0001t0012g0100 others(3): Show a0001c0001t0008g0174 a0001c0001t0012g0098 a0001c0001t0012g0100 a0001c0001t0014g0052 a0001c0001t0043g0175 a0001c0001t0051g0276	6	350	0.0171	20	c.132 others(37): Show c.132+4539_132+4540insTATATATATATATATATATA	GTF2A1	ENSG00000165417.12	transcript	ENST00000553612.6	protein_coding	2/8			chr14	TogoVar
GTF2A1_chr14_81170452_81225959	81211875	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02809.hp1 HG02886.hp1 others(4): Show HG02559.hp1 HG02809.hp1 HG02886.hp1 HG03453.hp2 HG03516.hp2 HG03540.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0015 a0001c0001t0006 a0001c0001t0007 a0001c0001t0015	a0001c0001t0006g0018 a0001c0001t0006g0065 a0001c0001t0006g0066 others(3): Show a0001c0001t0006g0018 a0001c0001t0006g0065 a0001c0001t0006g0066 a0001c0001t0006g0070 a0001c0001t0007g0044 a0001c0001t0015g0057	7	350	0.0200	20	c.132 others(37): Show c.132+4518_132+4537dupTATATATATATATATATATA	GTF2A1	ENSG00000165417.12	transcript	ENST00000553612.6	protein_coding	2/8			chr14	TogoVar
GTF2B_chr1_88847633_88896567	88894027	T T	TACACACA others(13): Show TACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG03453.hp2 NA18906.hp2 HG00423.hp1 HG03453.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0161 a0001c0001t0001g0167 a0001c0001t0001g0012 a0001c0001t0001g0161 a0001c0001t0001g0167	3	372	0.0081	20	c.-25 others(31): Show c.-2529_-2528insGTGTGTGTGTGTGTGTGTGT	GTF2B	ENSG00000137947.12	transcript	ENST00000370500.10	protein_coding		2461		chr1	TogoVar
GTF2F2_chr13_45115510_45289893	45191224	A A	AAAAAAAA others(13): Show AAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	210	0.0048	20	c.305 others(39): Show c.305-16199_305-16198insAAAAAATATATATATATATA	GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GTF2F2_chr13_45115510_45289893	45191224	A A	AAAATATA others(13): Show AAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	210	0.0048	20	c.305 others(39): Show c.305-16199_305-16198insAATATATATATATATATATA	GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GTF2F2_chr13_45115510_45289893	45212455	C C	CTTTCTTT others(13): Show CTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA19066.hp2 NA18950.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0061 a0001c0001t0001g0065	2	210	0.0095	20	c.386 others(37): Show c.386+4957_386+4958insTCTTTTCTTTTCTTTTCTTT	GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GTF2F2_chr13_45115510_45289893	45245666	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03579.hp2 HG03098.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0067 a0001c0001t0001g0069	2	210	0.0095	20	c.387 others(37): Show c.387-7189_387-7170dupTATATATATATATATATATA	GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GTF2H1_chr11_18317567_18372045	18367880	A A	AAAAAAAA others(13): Show AAAAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	370	0.0027	20	c.20 others(31): Show c.2011_*2012insAAAAAAAAAAATATATATAT	GTF2H1	ENSG00000110768.12	transcript	ENST00000265963.9	protein_coding		836		chr11	TogoVar
GTF2H5_chr6_158163350_158204344	158175024	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTGTATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp1 HG02451.hp1 others(17): Show HG01243.hp2 HG01891.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03471.hp1 HG03579.hp1 HG03579.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0012 a0001c0001t0038 others(3): Show a0001c0001t0007 a0001c0001t0012 a0001c0001t0038 a0001c0001t0042 a0001c0001t0093 a0001c0001t0094	a0001c0001t0007g0003 a0001c0001t0007g0047 a0001c0001t0007g0048 others(14): Show a0001c0001t0007g0003 a0001c0001t0007g0047 a0001c0001t0007g0048 a0001c0001t0007g0049 a0001c0001t0007g0050 a0001c0001t0007g0053 a0001c0001t0007g0055 a0001c0001t0007g0056 a0001c0001t0007g0057 a0001c0001t0012g0003 a0001c0001t0012g0051 a0001c0001t0038g0017 a0001c0001t0038g0052 a0001c0001t0042g0003 a0001c0001t0042g0054 a0001c0001t0093g0017 a0001c0001t0094g0046	20	384	0.0521	20	c.35+ others(35): Show c.35+4499_35+4500insATATATATGTGTGTGTGTGT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF2H5_chr6_158163350_158204344	158175026	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0107 a0001c0001t0107	a0001c0001t0107g0073 a0001c0001t0107g0073	1	384	0.0026	20	c.35+ others(35): Show c.35+4505_35+4506insATATGTGTGTGTGTGTGTGT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr6	TogoVar

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