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
GDF6_chr8_96137333_96165806	96146707	C C	CACACAGA others(15): Show CACACAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03209.hp1 NA19043.hp1 others(1): Show HG02976.hp2 HG03209.hp1 NA19043.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0065 a0001c0001t0071 a0001c0001t0024 a0001c0001t0065 a0001c0001t0071	a0001c0001t0024g0152 a0001c0001t0024g0154 a0001c0001t0065g0255 others(1): Show a0001c0001t0024g0152 a0001c0001t0024g0154 a0001c0001t0065g0255 a0001c0001t0071g0256	4	368	0.0109	22	c.407 others(39): Show c.407-1184_407-1183insCTCTCTCTCTCTCTCTCTGTGT	GDF6	ENSG00000156466.11	transcript	ENST00000287020.7	protein_coding	1/1			chr8	TogoVar
GDF6_chr8_96137333_96165806	96164182	C C	CTCTCTCT others(15): Show CTCTCTCTCTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0085 a0001c0001t0085	a0001c0001t0085g0252 a0001c0001t0085g0252	1	368	0.0027	22	c.-34 others(33): Show c.-3491_-3490insCACACACACACACAGAGAGAGA	GDF6	ENSG00000156466.11	transcript	ENST00000287020.7	protein_coding		3377		chr8	TogoVar
GDF6_chr8_96137333_96165806	96164182	C C	CTCTCTGT others(15): Show CTCTCTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0015 a0001c0001t0008g0015	1	368	0.0027	22	c.-34 others(33): Show c.-3491_-3490insCACACACACACACACACAGAGA	GDF6	ENSG00000156466.11	transcript	ENST00000287020.7	protein_coding		3377		chr8	TogoVar
GDF6_chr8_96137333_96165806	96164182	C C	CTCTGTGT others(15): Show CTCTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01167.hp2 HG01169.hp2 others(3): Show HG00741.hp1 HG01167.hp2 HG01169.hp2 HG03704.hp2 NA18612.hp2 NA19006.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0010 a0001c0001 a0002c0003 a0003c0010	a0001c0001t0003 a0001c0001t0016 a0001c0001t0040 others(2): Show a0001c0001t0003 a0001c0001t0016 a0001c0001t0040 a0002c0003t0027 a0003c0010t0008	a0001c0001t0003g0016 a0001c0001t0016g0098 a0001c0001t0040g0087 others(2): Show a0001c0001t0003g0016 a0001c0001t0016g0098 a0001c0001t0040g0087 a0002c0003t0027g0046 a0003c0010t0008g0084	6	368	0.0163	22	c.-34 others(33): Show c.-3491_-3490insCACACACACACACACACACAGA	GDF6	ENSG00000156466.11	transcript	ENST00000287020.7	protein_coding		3377		chr8	TogoVar
GDF6_chr8_96137333_96165806	96164182	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0027 a0002c0003t0027	a0002c0003t0027g0046 a0002c0003t0027g0046	1	368	0.0027	22	c.-34 others(33): Show c.-3491_-3490insCACACACACACACACACACACA	GDF6	ENSG00000156466.11	transcript	ENST00000287020.7	protein_coding		3377		chr8	TogoVar
GDI1_chrX_154432154_154448467	154448072	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	283	0.0035	22	c.54 others(33): Show c.5400_*5401insTTTTTTTTTTTTTTTTTTTTTT	GDI1	ENSG00000203879.12	transcript	ENST00000447750.7	protein_coding		4606		chrX	TogoVar
GDPD1_chr17_59215511_59280970	59255762	A A	AAAAAAAA others(15): Show AAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0079 a0001c0001t0010g0079	1	312	0.0032	22	c.368 others(39): Show c.368-1359_368-1358insAAAAAAAATATATATATATATA	GDPD1	ENSG00000153982.11	transcript	ENST00000284116.9	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
GDPD3_chr16_30099810_30118537	30110860	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA21309.hp2 HG02886.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0080 a0001c0001t0001g0081	2	390	0.0051	22	c.707 others(37): Show c.707+527_707+528insTTTTTTTTTTTTTTTTTTTTTT	GDPD3	ENSG00000102886.15	transcript	ENST00000406256.8	protein_coding	7/9			chr16	TogoVar
GDPD5_chr11_75429640_75530941	75512281	G G	GACACACA others(15): Show GACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02071.hp2 HG02257.hp1 others(9): Show HG00741.hp2 HG02071.hp2 HG02257.hp1 HG02683.hp1 HG03471.hp1 HG03704.hp1 HG04115.hp2 NA18970.hp2 NA18990.hp2 NA19009.hp1 NA19089.hp1 NA20129.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0002c0005 a0008c0015	a0001c0001t0001 a0001c0001t0002 a0001c0003t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0004 a0002c0002t0004 a0002c0005t0002 a0008c0015t0002	a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 others(9): Show a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0002g0065 a0001c0001t0002g0070 a0001c0003t0004g0252 a0002c0002t0004g0241 a0002c0005t0002g0096 a0008c0015t0002g0068	12	322	0.0373	22	c.-14 others(43): Show c.-145+12907_-145+12928dupGTGTGTGTGTGTGTGTGTGTGT	GDPD5	ENSG00000158555.15	transcript	ENST00000336898.8	protein_coding	1/16			chr11	TogoVar
GEMIN2_chr14_39109323_39141973	39123708	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0311	1	424	0.0024	22	c.486 others(39): Show c.486+1166_486+1167insATATATATATATATATATATTT	GEMIN2	ENSG00000092208.19	transcript	ENST00000308317.12	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
GEMIN2_chr14_39109323_39141973	39123708	A A	ATATATAT others(15): Show ATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02735.hp2 HG01981.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0307 a0001c0001t0001g0286 a0001c0001t0001g0307	2	424	0.0047	22	c.486 others(39): Show c.486+1166_486+1167insATATATATATATATATATTTTT	GEMIN2	ENSG00000092208.19	transcript	ENST00000308317.12	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
GEMIN2_chr14_39109323_39141973	39123708	A A	ATATATAT others(15): Show ATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	424	0.0024	22	c.486 others(39): Show c.486+1166_486+1167insATATATATATATATATTTTTTT	GEMIN2	ENSG00000092208.19	transcript	ENST00000308317.12	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
GFER_chr16_1979193_1992749	1984531	C C	CGCCCAGG others(15): Show CGCCCAGGTACCCCGGCAGAGCT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0016 a0001c0002t0001g0016	1	426	0.0024	22	c.258 others(35): Show c.258+56_258+77dupGCCCAGGTACCCCGGCAGAGCT	GFER	ENSG00000127554.13	transcript	ENST00000248114.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
GFOD1_chr6_13352830_13492600	13390780	A A	AGAAAGGA others(15): Show AGAAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01109.hp1 HG02056.hp2 HG00735.hp1 HG01109.hp1 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0026 a0001c0001t0098 a0001c0001t0010 a0001c0001t0026 a0001c0001t0098	a0001c0001t0010g0214 a0001c0001t0026g0181 a0001c0001t0098g0114 a0001c0001t0010g0214 a0001c0001t0026g0181 a0001c0001t0098g0114	3	230	0.0130	22	c.254 others(41): Show c.254-25119_254-25118insCCTTCCTTCCTTCCTTCCTTTC	GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1			chr6	TogoVar
GFOD1_chr6_13352830_13492600	13460691	G G	GGATAAAT others(15): Show GGATAAATATCTAATGCATGCAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00741.hp2 HG01070.hp1 others(28): Show HG00140.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01175.hp1 HG01243.hp2 HG01346.hp1 HG01516.hp1 HG01975.hp2 HG01993.hp2 HG02027.hp1 HG02083.hp2 HG02145.hp2 HG02486.hp2 HG02717.hp2 HG02886.hp1 HG02895.hp2 HG03710.hp2 HG04199.hp2 HG04204.hp2 NA18942.hp2 NA18948.hp1 NA18965.hp2 NA18966.hp1 NA18969.hp1 NA19000.hp1 NA19088.hp2 NA19090.hp1 NA20129.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0013 a0001c0001t0014 a0001c0001t0020 a0001c0001t0023 a0001c0001t0046 a0001c0001t0062 a0001c0001t0065 a0001c0001t0066 a0001c0001t0077 a0001c0001t0079 a0001c0001t0080 a0001c0001t0086 a0001c0001t0091 a0001c0001t0093 a0001c0001t0096 a0001c0001t0100 a0001c0001t0102 a0001c0001t0105 a0001c0001t0126	a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 others(28): Show a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0088 a0001c0001t0001g0139 a0001c0001t0002g0063 a0001c0001t0002g0079 a0001c0001t0007g0080 a0001c0001t0007g0081 a0001c0001t0013g0089 a0001c0001t0014g0075 a0001c0001t0014g0084 a0001c0001t0020g0083 a0001c0001t0023g0047 a0001c0001t0046g0030 a0001c0001t0062g0077 a0001c0001t0065g0058 a0001c0001t0066g0046 a0001c0001t0077g0086 a0001c0001t0079g0045 a0001c0001t0080g0071 a0001c0001t0086g0044 a0001c0001t0091g0092 a0001c0001t0093g0087 a0001c0001t0096g0050 a0001c0001t0100g0116 a0001c0001t0102g0090 a0001c0001t0105g0091 a0001c0001t0126g0180	31	230	0.1348	22	c.253 others(41): Show c.253+25925_253+25946dupTTGCATGCATTAGATATTTATC	GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1			chr6	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0352 a0001c0003t0002g0352	1	412	0.0024	22	c.41 others(33): Show c.4105_*4106insATATATATTTTTTTTTTTTTTT	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3239		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(15): Show AAAAAAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0188 a0001c0003t0001g0188	1	412	0.0024	22	c.41 others(33): Show c.4105_*4106insATATATATATATTTTTTTTTTT	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3239		chr5	TogoVar
GFRA1_chr10_116051925_116278206	116145148	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0050 a0001c0005t0050	a0001c0005t0050g0176 a0001c0005t0050g0176	1	214	0.0047	22	c.434 others(41): Show c.434-19613_434-19592dupTTTTTTTTTTTTTTTTTTTTTT	GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	5/10			chr10	TogoVar
GFRA1_chr10_116051925_116278206	116205596	G G	GATATATA others(15): Show GATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0139 a0001c0001t0018g0139	1	214	0.0047	22	c.433 others(39): Show c.433+6013_433+6034dupATATATATATATATATATATAT	GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	5/10			chr10	TogoVar
GFRA2_chr8_21685398_21793875	21694071	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0275 a0002c0002t0003g0275	1	322	0.0031	22	c.127 others(39): Show c.1272+392_1272+393insTATATATATATATATATATATA	GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	8/8			chr8	TogoVar
GFRA2_chr8_21685398_21793875	21694075	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA19000.hp1 NA19074.hp1 others(1): Show NA18962.hp1 NA19000.hp1 NA19074.hp1 NA19084.hp1	a0002 a0002	a0002c0002 a0002c0017 a0002c0002 a0002c0017	a0002c0002t0002 a0002c0002t0003 a0002c0017t0002 a0002c0002t0002 a0002c0002t0003 a0002c0017t0002	a0002c0002t0002g0098 a0002c0002t0002g0147 a0002c0002t0003g0246 others(1): Show a0002c0002t0002g0098 a0002c0002t0002g0147 a0002c0002t0003g0246 a0002c0017t0002g0058	4	322	0.0124	22	c.127 others(39): Show c.1272+388_1272+389insTATATATATATATATATATATA	GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	8/8			chr8	TogoVar
GFRA2_chr8_21685398_21793875	21714246	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp2 HG02280.hp1 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0019 a0001c0006t0002 a0001c0001t0019 a0001c0006t0002	a0001c0001t0019g0025 a0001c0006t0002g0028 a0001c0001t0019g0025 a0001c0006t0002g0028	2	322	0.0062	22	c.795 others(39): Show c.795-8227_795-8206dupAAAAAAAAAAAAAAAAAAAAAA	GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	4/8			chr8	TogoVar
GFRA2_chr8_21685398_21793875	21750107	A A	ACACACAC others(15): Show ACACACACACACACACACACACG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01361.hp1 HG02738.hp1 others(9): Show HG00438.hp1 HG01361.hp1 HG02738.hp1 NA18942.hp2 NA18943.hp2 NA18952.hp1 NA18990.hp2 NA18998.hp2 NA19009.hp1 NA19058.hp1 NA19084.hp1 NA19090.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0011c0029	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0003t0043 a0002c0002t0003 a0002c0002t0008 a0011c0029t0002	a0001c0001t0001g0090 a0001c0001t0001g0126 a0001c0001t0001g0127 others(9): Show a0001c0001t0001g0090 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0176 a0001c0001t0004g0213 a0001c0001t0004g0214 a0001c0001t0004g0270 a0001c0001t0007g0112 a0001c0003t0043g0287 a0002c0002t0003g0246 a0002c0002t0008g0220 a0011c0029t0002g0163	12	322	0.0373	22	c.794 others(37): Show c.794+480_794+481insCGTGTGTGTGTGTGTGTGTGTG	GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	4/8			chr8	TogoVar
GFUS_chr8_143607618_143622549	143619147	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02723.hp2 HG02818.hp2 others(3): Show HG02572.hp1 HG02723.hp2 HG02818.hp2 HG03130.hp1 NA18522.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0001t0001 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0004 a0001c0003t0001g0016 a0001c0004t0001g0021 a0001c0001t0001g0004 a0001c0003t0001g0016 a0001c0004t0001g0021	6	415	0.0145	22	c.-16 others(33): Show c.-1686_-1685insTTTTTTTTTTTTTTTTTTTTTT	GFUS	ENSG00000104522.16	transcript	ENST00000425753.7	protein_coding		1599		chr8	TogoVar
GGA2_chr16_23458542_23515494	23467387	A A	AACACACA others(15): Show AACACACACACACACACACACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG02647.hp1 others(7): Show HG01256.hp1 HG01258.hp2 HG02647.hp1 HG02717.hp2 HG02809.hp2 HG03688.hp1 HG04204.hp1 NA18522.hp1 NA18966.hp2 NA19030.hp1	a0002 a0004 a0005 a0002 a0004 a0005	a0002c0002 a0004c0006 a0005c0008 a0002c0002 a0004c0006 a0005c0008	a0002c0002t0016 a0002c0002t0025 a0002c0002t0032 others(3): Show a0002c0002t0016 a0002c0002t0025 a0002c0002t0032 a0002c0002t0043 a0004c0006t0016 a0005c0008t0044	a0002c0002t0016g0195 a0002c0002t0016g0220 a0002c0002t0016g0229 others(7): Show a0002c0002t0016g0195 a0002c0002t0016g0220 a0002c0002t0016g0229 a0002c0002t0025g0012 a0002c0002t0025g0014 a0002c0002t0032g0183 a0002c0002t0032g0184 a0002c0002t0043g0016 a0004c0006t0016g0215 a0005c0008t0044g0057	10	254	0.0394	22	c.18 others(31): Show c.181_*202dupGTGTGTGTGTGTGTGTGTGTGT	GGA2	ENSG00000103365.15	transcript	ENST00000309859.8	protein_coding	17/17	202		chr16	TogoVar
GGA3_chr17_75231599_75266606	75248468	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	364	0.0028	22	c.41- others(37): Show c.41-1694_41-1673dupTTTTTTTTTTTTTTTTTTTTTT	GGA3	ENSG00000125447.18	transcript	ENST00000537686.6	protein_coding	1/16			chr17	TogoVar
GGCT_chr7_30491621_30509829	30496315	T T	TACACACA others(15): Show TACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG01106.hp2 others(11): Show HG00408.hp1 HG00438.hp2 HG01106.hp2 HG01943.hp1 HG02027.hp2 HG02148.hp2 HG02523.hp2 HG03669.hp1 NA18945.hp1 NA18961.hp2 NA18962.hp1 NA18992.hp1 NA19072.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0061 a0001c0001t0001g0143 a0001c0001t0001g0144 others(7): Show a0001c0001t0001g0061 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0172 a0001c0001t0001g0196 a0001c0001t0003g0004 a0001c0001t0003g0006 a0001c0001t0003g0019 a0001c0001t0003g0029 a0001c0001t0003g0047	14	444	0.0315	22	c.77 others(31): Show c.776_*777insGTGTGTGTGTGTGTGTGTGTGT	GGCT	ENSG00000006625.18	transcript	ENST00000275428.9	protein_coding		305		chr7	TogoVar
GGNBP2_chr17_36539919_36594848	36548615	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02572.hp1 HG01258.hp2 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0031 a0001c0002t0003g0032 a0001c0002t0003g0031 a0001c0002t0003g0032	2	357	0.0056	22	c.93+ others(37): Show c.93+2814_93+2835dupAAAAAAAAAAAAAAAAAAAAAA	GGNBP2	ENSG00000278311.5	transcript	ENST00000613102.5	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
GGNBP2_chr17_36539919_36594848	36575613	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	357	0.0028	22	c.642 others(39): Show c.642-2355_642-2334dupATATATATATATATATATATAT	GGNBP2	ENSG00000278311.5	transcript	ENST00000613102.5	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
GGNBP2_chr17_36539919_36594848	36575648	A A	ATATATAT others(15): Show ATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0240 a0001c0007t0002g0240	1	357	0.0028	22	c.642 others(39): Show c.642-2334_642-2333insATATATATATATATATTTTTTT	GGNBP2	ENSG00000278311.5	transcript	ENST00000613102.5	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
GGNBP2_chr17_36539919_36594848	36575648	A A	ATATATAT others(15): Show ATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0230 a0001c0001t0002g0230	1	357	0.0028	22	c.642 others(39): Show c.642-2334_642-2333insATATATATTTTTTTTTTTTTTT	GGNBP2	ENSG00000278311.5	transcript	ENST00000613102.5	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
GGN_chr19_38379267_38393034	38380723	T T	TGTGTGTG others(15): Show TGTGTGTGCGCGCGCGTGCGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 NA18966.hp2 NA18967.hp2 others(2): Show HG04184.hp1 NA18966.hp2 NA18967.hp2 NA18977.hp2 NA19080.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0004 a0002c0003t0001g0004	5	392	0.0128	22	c.36 others(33): Show c.3688_*3689insGCGCGCACGCGCGCGCACACAC	GGN	ENSG00000179168.15	transcript	ENST00000334928.11	protein_coding		3543		chr19	TogoVar
GGN_chr19_38379267_38393034	38380723	T T	TGTGTGTG others(15): Show TGTGTGTGTGCGCGCGTGCGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0018 a0018	a0018c0021 a0018c0021	a0018c0021t0001 a0018c0021t0001	a0018c0021t0001g0033 a0018c0021t0001g0033	1	392	0.0026	22	c.36 others(33): Show c.3688_*3689insGCGCGCACGCGCGCACACACAC	GGN	ENSG00000179168.15	transcript	ENST00000334928.11	protein_coding		3543		chr19	TogoVar
GGT7_chr20_34839720_34877856	34855789	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02273.hp2 NA18954.hp2 others(3): Show HG02004.hp1 HG02273.hp2 NA18954.hp2 NA18979.hp2 NA18987.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0014 a0001c0001t0001 a0001c0001t0008 a0001c0001t0014	a0001c0001t0001g0251 a0001c0001t0008g0044 a0001c0001t0008g0236 others(2): Show a0001c0001t0001g0251 a0001c0001t0008g0044 a0001c0001t0008g0236 a0001c0001t0008g0248 a0001c0001t0014g0246	6	354	0.0170	22	c.110 others(39): Show c.1103-888_1103-867dupCACACACACACACACACACACA	GGT7	ENSG00000131067.17	transcript	ENST00000336431.10	protein_coding	8/14			chr20	TogoVar
GGT7_chr20_34839720_34877856	34855814	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01081.hp2 HG01993.hp1 others(26): Show HG00558.hp2 HG01081.hp2 HG01993.hp1 HG02040.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02451.hp2 HG02622.hp1 HG02622.hp2 HG02738.hp2 HG02895.hp1 HG02897.hp2 HG03471.hp2 HG03710.hp1 NA18612.hp2 NA18946.hp2 NA18950.hp1 NA18967.hp1 NA18982.hp1 NA18988.hp1 NA18993.hp2 NA18994.hp2 NA19003.hp1 NA19007.hp2 NA19063.hp2 NA19079.hp1 NA20905.hp2 NA21309.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0010c0015 a0001c0001 a0001c0002 a0010c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0011 a0010c0015t0002	a0001c0001t0001g0046 a0001c0001t0001g0204 a0001c0001t0002g0016 others(18): Show a0001c0001t0001g0046 a0001c0001t0001g0204 a0001c0001t0002g0016 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0002g0198 a0001c0001t0002g0203 a0001c0001t0002g0206 a0001c0001t0003g0205 a0001c0001t0006g0035 a0001c0002t0001g0009 a0001c0002t0001g0041 a0001c0002t0001g0229 a0001c0002t0002g0193 a0001c0002t0002g0225 a0001c0002t0002g0230 a0001c0002t0002g0234 a0001c0002t0003g0227 a0001c0002t0011g0216 a0001c0002t0011g0226 a0010c0015t0002g0214	29	354	0.0819	22	c.110 others(39): Show c.1103-892_1103-891insTCACACACACACACACACACAC	GGT7	ENSG00000131067.17	transcript	ENST00000336431.10	protein_coding	8/14			chr20	TogoVar
GHR_chr5_42418439_42726878	42650578	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02572.hp1 HG02055.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0065 a0001c0001t0013g0066 a0001c0001t0013g0065 a0001c0001t0013g0066	2	210	0.0095	22	c.136 others(41): Show c.136+21478_136+21499dupATATATATATATATATATATAT	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GIGYF2_chr2_232692331_232865605	232711705	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG01106.hp2 others(23): Show HG00280.hp2 HG00408.hp2 HG01106.hp2 HG01952.hp2 HG02015.hp1 HG02109.hp1 HG02486.hp1 HG02683.hp2 HG03017.hp2 HG04184.hp2 NA18945.hp2 NA18957.hp2 NA18960.hp1 NA18962.hp2 NA18969.hp2 NA18987.hp1 NA19003.hp2 NA19010.hp2 NA19030.hp2 NA19057.hp2 NA19060.hp2 NA19070.hp1 NA19078.hp2 NA19086.hp1 NA20300.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0001 a0002c0021 a0001c0005 a0002c0001 a0002c0021	a0001c0005t0001 a0002c0001t0002 a0002c0001t0004 others(3): Show a0001c0005t0001 a0002c0001t0002 a0002c0001t0004 a0002c0001t0009 a0002c0001t0018 a0002c0021t0004	a0001c0005t0001g0194 a0001c0005t0001g0195 a0002c0001t0002g0043 others(23): Show a0001c0005t0001g0194 a0001c0005t0001g0195 a0002c0001t0002g0043 a0002c0001t0002g0049 a0002c0001t0002g0053 a0002c0001t0002g0063 a0002c0001t0002g0064 a0002c0001t0002g0065 a0002c0001t0002g0066 a0002c0001t0002g0117 a0002c0001t0002g0122 a0002c0001t0002g0129 a0002c0001t0004g0014 a0002c0001t0004g0095 a0002c0001t0004g0096 a0002c0001t0004g0097 a0002c0001t0004g0098 a0002c0001t0004g0099 a0002c0001t0004g0107 a0002c0001t0004g0110 a0002c0001t0004g0112 a0002c0001t0004g0126 a0002c0001t0009g0062 a0002c0001t0018g0088 a0002c0001t0018g0111 a0002c0021t0004g0105	26	376	0.0692	22	c.-44 others(39): Show c.-44+8217_-44+8238dupTATATATATATATATATATATA	GIGYF2	ENSG00000204120.16	transcript	ENST00000373563.9	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
GIGYF2_chr2_232692331_232865605	232711705	G G	GTGTGTAT others(15): Show GTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03516.hp1 NA21309.hp2 HG02922.hp2 HG03516.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0025 a0001c0002t0012 a0001c0002t0025	a0001c0002t0012g0300 a0001c0002t0012g0301 a0001c0002t0025g0242 a0001c0002t0012g0300 a0001c0002t0012g0301 a0001c0002t0025g0242	3	376	0.0080	22	c.-44 others(39): Show c.-44+8217_-44+8218insGTGTATATATATATATATATAT	GIGYF2	ENSG00000204120.16	transcript	ENST00000373563.9	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
GIGYF2_chr2_232692331_232865605	232781287	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0144 a0001c0003t0003g0144	1	376	0.0027	22	c.533 others(39): Show c.533-5849_533-5828dupCACACACACACACACACACACA	GIGYF2	ENSG00000204120.16	transcript	ENST00000373563.9	protein_coding	8/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
GIGYF2_chr2_232692331_232865605	232836304	A A	ATATATAA others(15): Show ATATATAAATAAATATATATACT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0179 a0001c0002t0014g0179	1	376	0.0027	22	c.276 others(41): Show c.2766+3217_2766+3218insAATAAATATATATACTTATATA	GIGYF2	ENSG00000204120.16	transcript	ENST00000373563.9	protein_coding	22/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
GIN1_chr5_103081000_103125138	103117581	T T	TATATACA others(15): Show TATATACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02970.hp2 HG03453.hp1 HG00597.hp2 HG02970.hp2 HG03453.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0007 a0002c0002 a0005c0007	a0002c0002t0009 a0005c0007t0002 a0002c0002t0009 a0005c0007t0002	a0002c0002t0009g0148 a0002c0002t0009g0149 a0005c0007t0002g0147 a0002c0002t0009g0148 a0002c0002t0009g0149 a0005c0007t0002g0147	3	322	0.0093	22	c.-8+ others(37): Show c.-8+2482_-8+2483insGTGTGTGTGTGTGTGTGTATAT	GIN1	ENSG00000145723.17	transcript	ENST00000399004.7	protein_coding	1/7			chr5	TogoVar
GINM1_chr6_149561375_149596748	149562316	A A	ATATATAT others(15): Show ATATATATATATTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0154 a0001c0001t0004g0154	1	380	0.0026	22	c.-40 others(33): Show c.-4099_-4098insTATATATATATTTTTTTTTTTT	GINM1	ENSG00000055211.14	transcript	ENST00000367419.10	protein_coding		4058		chr6	TogoVar
GINS2_chr16_85671198_85693954	85685670	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0091 a0001c0003t0013g0091	1	470	0.0021	22	c.205 others(39): Show c.205+1789_205+1790insTTTTTTTTTTTTTTTTTTTTTT	GINS2	ENSG00000131153.9	transcript	ENST00000253462.8	protein_coding	2/4			chr16	TogoVar
GINS2_chr16_85671198_85693954	85685678	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02886.hp2 HG02630.hp1 HG02886.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0022 a0001c0006t0022	a0001c0006t0022g0060 a0001c0006t0022g0061 a0001c0006t0022g0060 a0001c0006t0022g0061	2	470	0.0043	22	c.205 others(39): Show c.205+1781_205+1782insGTTTTTTTTTTTTTTTTTTTTT	GINS2	ENSG00000131153.9	transcript	ENST00000253462.8	protein_coding	2/4			chr16	TogoVar
GINS2_chr16_85671198_85693954	85685685	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01070.hp1 HG01074.hp2 others(7): Show HG00140.hp2 HG01070.hp1 HG01074.hp2 HG01496.hp2 HG03490.hp1 NA18948.hp1 NA18950.hp2 NA18964.hp1 NA18964.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0024 others(1): Show a0001c0001t0003 a0001c0001t0012 a0001c0001t0024 a0001c0001t0035	a0001c0001t0003g0012 a0001c0001t0003g0109 a0001c0001t0003g0110 others(4): Show a0001c0001t0003g0012 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0148 a0001c0001t0012g0204 a0001c0001t0024g0146 a0001c0001t0035g0111	10	470	0.0213	22	c.205 others(39): Show c.205+1774_205+1775insGTTTTTTTTTTTTTTTTTTTTT	GINS2	ENSG00000131153.9	transcript	ENST00000253462.8	protein_coding	2/4			chr16	TogoVar
GINS4_chr8_41524261_41550030	41546849	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp1 NA18952.hp1 NA18960.hp1 others(6): Show HG02148.hp1 NA18952.hp1 NA18960.hp1 NA18990.hp2 NA18993.hp2 NA18995.hp2 NA19012.hp2 NA19074.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0059 a0001c0001t0001g0103 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0059 a0001c0001t0001g0103 a0001c0001t0001g0122	9	426	0.0211	22	c.47 others(33): Show c.4762_*4763insTTTTTTTTTTTTTTTTTTTTTT	GINS4	ENSG00000147536.12	transcript	ENST00000276533.4	protein_coding		1820		chr8	TogoVar
GIPC1_chr19_14472762_14501127	14485702	T T	TATATATA others(15): Show TATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01069.hp2 HG01071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0035 a0001c0002t0003g0035	2	444	0.0045	22	c.-30 others(39): Show c.-30-2697_-30-2696insCTCTCTCTCTCTCTATATATAT	GIPC1	ENSG00000123159.16	transcript	ENST00000393033.9	protein_coding	3/8			chr19	TogoVar
GIPC1_chr19_14472762_14501127	14485702	T T	TATATATA others(15): Show TATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0296 a0001c0002t0003g0296	1	444	0.0023	22	c.-30 others(39): Show c.-30-2697_-30-2696insCTCTCTCTCTCTATATATATAT	GIPC1	ENSG00000123159.16	transcript	ENST00000393033.9	protein_coding	3/8			chr19	TogoVar
GIPC1_chr19_14472762_14501127	14485702	T T	TATATATA others(15): Show TATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01070.hp2 HG01261.hp1 others(3): Show HG00735.hp2 HG01070.hp2 HG01261.hp1 HG01943.hp1 HG02004.hp2 NA18941.hp2	a0001 a0008 a0001 a0008	a0001c0002 a0008c0026 a0001c0002 a0008c0026	a0001c0002t0003 a0001c0002t0006 a0001c0002t0045 others(1): Show a0001c0002t0003 a0001c0002t0006 a0001c0002t0045 a0008c0026t0003	a0001c0002t0003g0034 a0001c0002t0003g0294 a0001c0002t0006g0329 others(2): Show a0001c0002t0003g0034 a0001c0002t0003g0294 a0001c0002t0006g0329 a0001c0002t0045g0338 a0008c0026t0003g0295	6	444	0.0135	22	c.-30 others(39): Show c.-30-2697_-30-2696insCTCTCTCTCTATATATATATAT	GIPC1	ENSG00000123159.16	transcript	ENST00000393033.9	protein_coding	3/8			chr19	TogoVar
GIPR_chr19_45663221_45688722	45671173	G G	GGCGGAGA others(15): Show GGCGGAGAAGCACTTGGCCCACT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02809.hp1 HG02818.hp1 others(8): Show HG02257.hp2 HG02809.hp1 HG02818.hp1 HG02965.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp1 HG03579.hp1 NA18906.hp2 NA18981.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0001c0003 a0011c0019 a0001c0001 a0001c0003 a0011c0019	a0001c0001t0002 a0001c0003t0005 a0001c0003t0010 others(4): Show a0001c0001t0002 a0001c0003t0005 a0001c0003t0010 a0001c0003t0012 a0001c0003t0015 a0001c0003t0032 a0011c0019t0027	a0001c0001t0002g0129 a0001c0003t0005g0233 a0001c0003t0010g0232 others(7): Show a0001c0001t0002g0129 a0001c0003t0005g0233 a0001c0003t0010g0232 a0001c0003t0010g0234 a0001c0003t0012g0056 a0001c0003t0012g0241 a0001c0003t0012g0242 a0001c0003t0015g0135 a0001c0003t0032g0235 a0011c0019t0027g0059	11	416	0.0264	22	c.173 others(35): Show c.173-86_173-65dupGAGAAGCACTTGGCCCACTGCG	GIPR	ENSG00000010310.9	transcript	ENST00000590918.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr19	TogoVar

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