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
GATA3_chr10_8049688_8080198	8061089	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0053 a0001c0001t0004g0053	1	370	0.0027	24	c.778 others(41): Show c.778+2249_778+2250insCTCTCTCTCTCTCTCTCTCTCTTT	GATA3	ENSG00000107485.18	transcript	ENST00000379328.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr10	TogoVar
GATA5_chr20_62458497_62480995	62476877	T T	TTTTCTTT others(17): Show TTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG03225.hp2 HG03239.hp2 HG01192.hp1 HG03225.hp2 HG03239.hp2	a0002 a0002	a0002c0006 a0002c0021 a0002c0006 a0002c0021	a0002c0006t0001 a0002c0006t0005 a0002c0021t0008 a0002c0006t0001 a0002c0006t0005 a0002c0021t0008	a0002c0006t0001g0238 a0002c0006t0005g0017 a0002c0021t0008g0256 a0002c0006t0001g0238 a0002c0006t0005g0017 a0002c0021t0008g0256	3	382	0.0079	24	c.-97 others(33): Show c.-970_-969insGAAAGAAAGAAAGAAAGAAAGAAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		883		chr20	TogoVar
GATA5_chr20_62458497_62480995	62476885	T T	TTTTCTTT others(17): Show TTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG02004.hp1 others(8): Show HG00438.hp2 HG00544.hp1 HG02004.hp1 HG02015.hp2 HG02071.hp2 HG02074.hp2 HG03654.hp1 HG03927.hp2 NA18970.hp1 NA18990.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0004t0007 a0001c0008t0004	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0290 a0001c0001t0004g0002 a0001c0001t0005g0005 a0001c0002t0001g0126 a0001c0002t0002g0114 a0001c0003t0001g0067 a0001c0004t0007g0190 a0001c0008t0004g0196	11	382	0.0288	24	c.-97 others(33): Show c.-978_-977insGAAAGAAAGAAAGAAAGAAAGAAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		891		chr20	TogoVar
GATA5_chr20_62458497_62480995	62476891	T T	TTCTTTCT others(17): Show TTCTTTCTTTCTTTCTTTCTTTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0013 a0001c0002t0009g0013	1	382	0.0026	24	c.-98 others(33): Show c.-984_-983insGAGAAAGAAAGAAAGAAAGAAAGA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		897		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477098	C C	CTTCCTTC others(17): Show CTTCCTTCCTTCCTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 NA18522.hp2 HG03453.hp1 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0043 a0001c0002t0012g0045 a0001c0002t0012g0043 a0001c0002t0012g0045	2	382	0.0052	24	c.-11 others(35): Show c.-1191_-1190insAGAAAGAAAGAAGGAAGGAAGGAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1104		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477098	C C	CTTCCTTC others(17): Show CTTCCTTCCTTCTTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0022 a0001c0004t0002g0022	1	382	0.0026	24	c.-11 others(35): Show c.-1191_-1190insAGAAAGAAAGAAAGAAGGAAGGAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1104		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477241	C C	CCTTTCTT others(17): Show CCTTTCTTTCTTTCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02622.hp2 HG03491.hp2 HG02572.hp2 HG02622.hp2 HG03491.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0002 a0001c0002t0021 a0001c0008t0007 a0001c0002t0002 a0001c0002t0021 a0001c0008t0007	a0001c0002t0002g0099 a0001c0002t0021g0154 a0001c0008t0007g0212 a0001c0002t0002g0099 a0001c0002t0021g0154 a0001c0008t0007g0212	3	382	0.0079	24	c.-13 others(35): Show c.-1334_-1333insAAAGAAAGAAAGAAAGAAAGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1247		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477245	C C	CCTTTCTT others(17): Show CCTTTCTTTCTTTCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0028 a0001c0001t0004g0028	1	382	0.0026	24	c.-13 others(35): Show c.-1338_-1337insAAAGAAAGAAAGAAAGAAAGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1251		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477249	C C	CCTTTCTT others(17): Show CCTTTCTTTCTTTCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0117 a0001c0002t0001g0117	1	382	0.0026	24	c.-13 others(35): Show c.-1342_-1341insAAAGAAAGAAAGAAAGAAAGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1255		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477253	C C	CCTTCCTT others(17): Show CCTTCCTTCCTTCCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0006 a0001c0003t0003g0006	1	382	0.0026	24	c.-13 others(35): Show c.-1346_-1345insAAAGAAAGAAAGGAAGGAAGGAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1259		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477253	C C	CCTTCCTT others(17): Show CCTTCCTTCCTTTCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03579.hp1 HG03239.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0005 a0001c0003 a0002c0005	a0001c0003t0003 a0002c0005t0002 a0001c0003t0003 a0002c0005t0002	a0001c0003t0003g0006 a0002c0005t0002g0010 a0001c0003t0003g0006 a0002c0005t0002g0010	2	382	0.0052	24	c.-13 others(35): Show c.-1346_-1345insAAAGAAAGAAAGAAAGGAAGGAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1259		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477287	T T	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0220 a0001c0002t0003g0220	1	382	0.0026	24	c.-13 others(35): Show c.-1380_-1379insGGAAGGAAGGAAGGAAGGAAGGAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1293		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477303	T T	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0269 a0001c0001t0003g0269	1	382	0.0026	24	c.-13 others(35): Show c.-1396_-1395insGGAAGGAAGGAAGGAAGGAAGGAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1309		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477303	T T	TTTCTTTC others(17): Show TTTCTTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0038 a0001c0001t0017g0038	1	382	0.0026	24	c.-13 others(35): Show c.-1396_-1395insGGAAGGAAGGAAGGAAGGAAAGAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1309		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477303	T T	TTTCTTTC others(17): Show TTTCTTTCTTTCTTTCTTTCTTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG02004.hp2 HG00544.hp1 HG02004.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0016 a0001c0001 a0003c0016	a0001c0001t0001 a0003c0016t0011 a0001c0001t0001 a0003c0016t0011	a0001c0001t0001g0001 a0003c0016t0011g0053 a0001c0001t0001g0001 a0003c0016t0011g0053	2	382	0.0052	24	c.-13 others(35): Show c.-1396_-1395insGGAAAGAAAGAAAGAAAGAAAGAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1309		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCCTCCCT others(17): Show TCCTCCCTCCCTCCCTCCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0005 a0002c0006t0005	a0002c0006t0005g0017 a0002c0006t0005g0017	1	382	0.0026	24	c.-13 others(35): Show c.-1398_-1397insGAGGGAGGGAGGGAGGGAGGGAGG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCCTTCCT others(17): Show TCCTTCCTTCCTCCCTCCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0215 a0001c0002t0001g0215	1	382	0.0026	24	c.-13 others(35): Show c.-1398_-1397insGAGGGAGGGAGGGAGGAAGGAAGG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCCT others(17): Show TCTTTCCTTCCTTCCTCCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0023 a0001c0004t0007g0023	1	382	0.0026	24	c.-13 others(35): Show c.-1398_-1397insGAGGGAGGGAGGAAGGAAGGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(17): Show TCTTTCTTTCCTCCCTCCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0289 a0001c0001t0004g0289	1	382	0.0026	24	c.-13 others(35): Show c.-1398_-1397insGAGGGAGGGAGGGAGGAAAGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(17): Show TCTTTCTTTCCTTCCTCCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0280 a0001c0002t0001g0280	1	382	0.0026	24	c.-13 others(35): Show c.-1398_-1397insGAGGGAGGGAGGAAGGAAAGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(17): Show TCTTTCTTTCCTTCCTTCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 NA18986.hp2 HG03942.hp2 NA18986.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0005 a0001c0004 a0002c0005	a0001c0004t0013 a0002c0005t0001 a0001c0004t0013 a0002c0005t0001	a0001c0004t0013g0096 a0002c0005t0001g0009 a0001c0004t0013g0096 a0002c0005t0001g0009	2	382	0.0052	24	c.-13 others(35): Show c.-1398_-1397insGAGGGAGGAAGGAAGGAAAGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(17): Show TCTTTCTTTCTTTCCTCCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0026 a0001c0004t0026	a0001c0004t0026g0094 a0001c0004t0026g0094	1	382	0.0026	24	c.-13 others(35): Show c.-1398_-1397insGAGGGAGGGAGGAAAGAAAGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(17): Show TCTTTCTTTCTTTCCTTCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 NA19030.hp2 HG02683.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0003 a0001c0001t0004 a0001c0003t0003	a0001c0001t0004g0002 a0001c0003t0003g0209 a0001c0001t0004g0002 a0001c0003t0003g0209	2	382	0.0052	24	c.-13 others(35): Show c.-1398_-1397insGAGGGAGGAAGGAAAGAAAGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(17): Show TCTTTCTTTCTTTCTTTCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01071.hp2 others(4): Show HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01175.hp1 HG01261.hp2 HG01952.hp1 HG02132.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0003c0024 others(1): Show a0001c0001 a0001c0002 a0003c0024 a0005c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0002 a0003c0024t0002 a0005c0013t0002	a0001c0001t0001g0004 a0001c0001t0002g0008 a0001c0001t0004g0002 others(4): Show a0001c0001t0001g0004 a0001c0001t0002g0008 a0001c0001t0004g0002 a0001c0002t0002g0059 a0003c0024t0002g0052 a0005c0013t0002g0030 a0005c0013t0002g0166	7	382	0.0183	24	c.-13 others(35): Show c.-1398_-1397insGAGGGAGGAAAGAAAGAAAGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(17): Show TCTTTCTTTCTTTCTTTCTTTCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0189 a0001c0001t0004g0189	1	382	0.0026	24	c.-13 others(35): Show c.-1398_-1397insGAGGAAAGAAAGAAAGAAAGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA6_chr18_22164589_22207528	22204288	C C	CTCTTTCT others(17): Show CTCTTTCTTTCTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG01433.hp1 others(2): Show HG00140.hp2 HG00642.hp1 HG01433.hp1 HG01891.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0017 a0001c0001t0002g0148 a0001c0001t0002g0162 others(2): Show a0001c0001t0001g0017 a0001c0001t0002g0148 a0001c0001t0002g0162 a0001c0001t0002g0237 a0001c0001t0004g0027	5	286	0.0175	24	c.34 others(35): Show c.3465_*3466insTCTTTCTTTCTTTCTTTCTTTCTT	GATA6	ENSG00000141448.11	transcript	ENST00000269216.10	protein_coding		1761		chr18	TogoVar
GATAD2B_chr1_153799725_153927972	153839108	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA20805.hp2 HG00558.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0187 a0001c0001t0002g0169 a0001c0001t0002g0187	2	349	0.0057	24	c.-1- others(41): Show c.-1-10784_-1-10761dupTTTTTTTTTTTTTTTTTTTTTTTT	GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	1/10			chr1	TogoVar
GATAD2B_chr1_153799725_153927972	153927589	T T	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0018 a0001c0001t0061g0018	1	349	0.0029	24	c.-48 others(35): Show c.-4859_-4858insCACACACACACACACACACACACA	GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding		4618		chr1	TogoVar
GATB_chr4_151665504_151766007	151735734	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01169.hp1 HG01346.hp2 others(10): Show HG00639.hp1 HG01169.hp1 HG01346.hp2 HG01515.hp2 HG01891.hp2 HG02071.hp2 HG02109.hp1 HG02965.hp1 HG03195.hp2 NA18971.hp1 NA19005.hp1 NA19054.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0084 others(10): Show a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0084 a0001c0001t0001g0096 a0001c0001t0001g0105 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0137 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0179 a0001c0001t0001g0180	13	320	0.0406	24	c.328 others(43): Show c.328-16197_328-16196insTATATATATATATATATATATATA	GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding	2/12			chr4	TogoVar
GATB_chr4_151665504_151766007	151765852	C C	CAGAGAGA others(17): Show CAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 NA20129.hp1 HG03453.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0188 a0001c0009t0001g0182 a0001c0001t0001g0188 a0001c0009t0001g0182	2	320	0.0063	24	c.-48 others(35): Show c.-4871_-4870insCTCTCTCTCTCTCTCTCTCTCTCT	GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding		4846		chr4	TogoVar
GBE1_chr3_81484703_81766645	81750565	A A	ATATATAT others(17): Show ATATATATATGTATATATATATATG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0250 a0001c0001t0002g0250	1	304	0.0033	24	c.143 others(43): Show c.143+10809_143+10810insCATATATATATATACATATATATA	GBE1	ENSG00000114480.13	transcript	ENST00000429644.7	protein_coding	1/15			chr3	TogoVar
GBE1_chr3_81484703_81766645	81750605	A A	ATATATAT others(17): Show ATATATATATACGTATATATATATG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0232 a0001c0001t0002g0232	1	304	0.0033	24	c.143 others(43): Show c.143+10769_143+10770insCATATATATATACGTATATATATA	GBE1	ENSG00000114480.13	transcript	ENST00000429644.7	protein_coding	1/15			chr3	TogoVar
GBF1_chr10_102240532_102387896	102293764	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0178 a0002c0002t0001g0178	1	330	0.0030	24	c.163 others(43): Show c.163+33652_163+33653insTTTTTTTTTTTTTTTTTTTTTTTT	GBF1	ENSG00000107862.7	transcript	ENST00000369983.5	protein_coding	3/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
GBP3_chr1_89001680_89027866	89021788	T T	TGAGAGAG others(17): Show TGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0002 a0003c0008t0002	a0003c0008t0002g0162 a0003c0008t0002g0162	1	436	0.0023	24	c.-23 others(39): Show c.-23+872_-23+895dupTCTCTCTCTCTCTCTCTCTCTCTC	GBP3	ENSG00000117226.12	transcript	ENST00000370481.9	protein_coding	1/10			chr1	TogoVar
GCAT_chr22_37802934_37821897	37819561	G G	GGAGGCCG others(17): Show GGAGGCCGAGGCGGGCGGATCACGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp2 HG02145.hp1 others(21): Show HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02258.hp1 HG02280.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02723.hp2 HG02809.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03471.hp2 HG03540.hp1 HG06807.hp1 NA18906.hp2 NA19043.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0003 a0002c0002 a0002c0004 others(2): Show a0001c0003 a0002c0002 a0002c0004 a0005c0008 a0006c0009	a0001c0003t0001 a0002c0002t0002 a0002c0004t0001 others(2): Show a0001c0003t0001 a0002c0002t0002 a0002c0004t0001 a0005c0008t0002 a0006c0009t0001	a0001c0003t0001g0012 a0001c0003t0001g0018 a0001c0003t0001g0020 others(12): Show a0001c0003t0001g0012 a0001c0003t0001g0018 a0001c0003t0001g0020 a0001c0003t0001g0066 a0001c0003t0001g0067 a0001c0003t0001g0077 a0001c0003t0001g0087 a0001c0003t0001g0091 a0001c0003t0001g0092 a0002c0002t0002g0041 a0002c0002t0002g0044 a0002c0004t0001g0017 a0002c0004t0001g0071 a0005c0008t0002g0032 a0006c0009t0001g0018	24	390	0.0615	24	c.28 others(35): Show c.2843_*2844insGAGGCCGAGGCGGGCGGATCACGA	GCAT	ENSG00000100116.17	transcript	ENST00000248924.11	protein_coding		2665		chr22	TogoVar
GCA_chr2_162339132_162368123	162345093	A A	ATGGTGGT others(17): Show ATGGTGGTGGTGGTGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02976.hp2 NA18965.hp2 others(3): Show HG02615.hp1 HG02976.hp2 NA18965.hp2 NA18975.hp1 NA19000.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008	a0001c0001t0002g0053 a0001c0001t0003g0046 a0001c0001t0003g0140 others(2): Show a0001c0001t0002g0053 a0001c0001t0003g0046 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0008g0059	6	366	0.0164	24	c.27+ others(37): Show c.27+838_27+861dupGGTGGTGGTGGTGGTGGTGGTGGT	GCA	ENSG00000115271.11	transcript	ENST00000437150.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
GCA_chr2_162339132_162368123	162345131	G G	GGTGGTGG others(17): Show GGTGGTGGTGGTGGTGGTTGTGGTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01255.hp2 HG01257.hp2 others(6): Show HG01069.hp1 HG01255.hp2 HG01257.hp2 HG02004.hp1 HG02647.hp1 HG02895.hp1 NA18522.hp2 NA18972.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0003 a0001c0004t0003 a0001c0001t0002 a0001c0001t0003 a0001c0004t0003	a0001c0001t0002g0019 a0001c0001t0002g0152 a0001c0001t0003g0013 others(1): Show a0001c0001t0002g0019 a0001c0001t0002g0152 a0001c0001t0003g0013 a0001c0004t0003g0013	9	366	0.0246	24	c.27+ others(37): Show c.27+861_27+862insGGTGGTGGTGGTTGTGGTTGTGGT	GCA	ENSG00000115271.11	transcript	ENST00000437150.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
GCH1_chr14_54837017_54907826	54855505	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	346	0.0029	24	c.509 others(41): Show c.509+4152_509+4175dupTTTTTTTTTTTTTTTTTTTTTTTT	GCH1	ENSG00000131979.20	transcript	ENST00000491895.7	protein_coding	3/5			chr14	TogoVar
GCH1_chr14_54837017_54907826	54870335	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0232 a0001c0001t0008g0232	1	346	0.0029	24	c.344 others(41): Show c.344-4923_344-4900dupTTTTTTTTTTTTTTTTTTTTTTTT	GCH1	ENSG00000131979.20	transcript	ENST00000491895.7	protein_coding	1/5			chr14	TogoVar
GCK_chr7_44139275_44194439	44174848	C C	CTCTTCTT others(17): Show CTCTTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0280 a0001c0001t0003g0280	1	392	0.0026	24	c.45+ others(41): Show c.45+14060_45+14061insAGAAGAAGAAGAAGAAGAAGAAGA	GCK	ENSG00000106633.18	transcript	ENST00000403799.8	protein_coding	1/9			chr7	TogoVar
GCK_chr7_44139275_44194439	44174854	C C	CTCTTCCT others(17): Show CTCTTCCTCCTCCTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0320 a0001c0001t0001g0320	1	392	0.0026	24	c.45+ others(41): Show c.45+14054_45+14055insAGAAGAAGAAGAGGAGGAGGAAGA	GCK	ENSG00000106633.18	transcript	ENST00000403799.8	protein_coding	1/9			chr7	TogoVar
GCK_chr7_44139275_44194439	44174854	C C	CTCTTCTT others(17): Show CTCTTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0292 a0001c0001t0003g0292	1	392	0.0026	24	c.45+ others(41): Show c.45+14031_45+14054dupAGAAGAAGAAGAAGAAGAAGAAGA	GCK	ENSG00000106633.18	transcript	ENST00000403799.8	protein_coding	1/9			chr7	TogoVar
GCK_chr7_44139275_44194439	44174915	T T	TCTTCTTC others(17): Show TCTTCTTCTTCTTCTTCTTCTTCTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02615.hp2 HG02683.hp1 others(9): Show HG01884.hp1 HG02615.hp2 HG02683.hp1 HG03579.hp2 HG03688.hp1 NA18955.hp1 NA18956.hp2 NA18965.hp1 NA18997.hp1 NA19043.hp2 NA19064.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0061 a0001c0001t0001g0247 a0001c0001t0001g0261 others(9): Show a0001c0001t0001g0061 a0001c0001t0001g0247 a0001c0001t0001g0261 a0001c0001t0001g0307 a0001c0001t0002g0026 a0001c0001t0002g0031 a0001c0001t0002g0039 a0001c0001t0002g0095 a0001c0001t0002g0285 a0001c0001t0004g0258 a0001c0001t0006g0177 a0001c0001t0006g0257	12	392	0.0306	24	c.45+ others(41): Show c.45+13993_45+13994insGAGAAGAAGAAGAAGAAGAAGAAG	GCK	ENSG00000106633.18	transcript	ENST00000403799.8	protein_coding	1/9			chr7	TogoVar
GCNT2_chr6_10516351_10634368	10534139	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01517.hp2 HG02735.hp1 others(4): Show HG01258.hp1 HG01517.hp2 HG02735.hp1 HG02735.hp2 NA18980.hp2 NA19062.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 others(4): Show a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0168 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0002g0246	7	324	0.0216	24	c.925 others(41): Show c.925+4304_925+4305insTTTTTTTTTTTTTTTTTTTTTTTT	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10516351_10634368	10569235	C C	CCACACAC others(17): Show CCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00738.hp1 HG01081.hp1 others(13): Show HG00408.hp2 HG00738.hp1 HG01081.hp1 HG01099.hp1 HG01243.hp1 HG01952.hp1 HG02293.hp1 HG02293.hp2 HG02559.hp2 HG03471.hp1 HG03490.hp2 NA18949.hp1 NA18966.hp1 NA18986.hp1 NA19003.hp1 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0002c0004t0028	a0001c0001t0001g0050 a0001c0001t0001g0056 a0001c0001t0001g0061 others(13): Show a0001c0001t0001g0050 a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0081 a0001c0001t0001g0119 a0001c0001t0001g0132 a0001c0001t0001g0184 a0001c0001t0001g0191 a0001c0001t0001g0247 a0001c0001t0001g0261 a0001c0001t0001g0309 a0001c0001t0002g0047 a0001c0001t0002g0097 a0001c0001t0002g0264 a0001c0001t0006g0286 a0002c0004t0028g0324	16	324	0.0494	24	c.925 others(43): Show c.925+39415_925+39438dupACACACACACACACACACACACAC	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10550809_10634368	10569235	C C	CCACACAC others(17): Show CCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00738.hp2 HG01081.hp2 others(16): Show HG00408.hp2 HG00738.hp2 HG01081.hp2 HG01099.hp2 HG01243.hp1 HG01952.hp1 HG02293.hp1 HG02293.hp2 HG02559.hp2 HG03471.hp2 HG03490.hp1 NA18948.hp2 NA18949.hp2 NA18966.hp1 NA18986.hp1 NA19002.hp1 NA19003.hp1 NA19084.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0043 a0001c0001t0001g0070 a0001c0001t0001g0104 others(16): Show a0001c0001t0001g0043 a0001c0001t0001g0070 a0001c0001t0001g0104 a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0001g0169 a0001c0001t0001g0174 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0207 a0001c0001t0001g0232 a0001c0001t0001g0258 a0001c0001t0001g0265 a0001c0001t0001g0324 a0001c0001t0001g0336 a0001c0001t0002g0141 a0001c0001t0002g0166 a0001c0001t0002g0196 a0001c0002t0001g0295	19	344	0.0552	24	c.919 others(43): Show c.919+11909_919+11932dupACACACACACACACACACACACAC	GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT3_chr15_59606783_59627723	59608103	G G	GGTGTCAT others(17): Show GGTGTCATTTTTGGAACATCAGCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	428	0.0023	24	c.-41 others(35): Show c.-4129_-4128insGTGTCATTTTTGGAACATCAGCTA	GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding		3679		chr15	TogoVar
GCNT3_chr15_59606783_59627723	59610144	G G	GGCCTGCC others(17): Show GGCCTGCCTGCCTGCCTGCCTGCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	428	0.0023	24	c.-20 others(35): Show c.-2088_-2087insGCCTGCCTGCCTGCCTGCCTGCCT	GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding		1638		chr15	TogoVar
GCNT3_chr15_59606783_59627723	59610563	T T	TTCCTTCC others(17): Show TTCCTTCCCTCCCTCCTTCCCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG02155.hp1 NA18959.hp2 HG01358.hp2 HG02155.hp1 NA18959.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0001c0001t0075 a0004c0007t0080 a0001c0001t0001 a0001c0001t0075 a0004c0007t0080	a0001c0001t0001g0004 a0001c0001t0075g0015 a0004c0007t0080g0073 a0001c0001t0001g0004 a0001c0001t0075g0015 a0004c0007t0080g0073	3	428	0.0070	24	c.-16 others(35): Show c.-1669_-1668insTCCTTCCCTCCCTCCTTCCCTCCC	GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding		1219		chr15	TogoVar
GCNT3_chr15_59606783_59627723	59610563	T T	TTCCTTCC others(17): Show TTCCTTCCCTCCTTCCTTCCCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG02132.hp2 NA18943.hp2 HG00408.hp2 HG02132.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0014 a0001c0001t0006g0003 a0001c0001t0006g0021 a0001c0001t0001g0014 a0001c0001t0006g0003 a0001c0001t0006g0021	3	428	0.0070	24	c.-16 others(35): Show c.-1669_-1668insTCCTTCCCTCCTTCCTTCCCTCCC	GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding		1219		chr15	TogoVar

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