Joint Open Genome and Omics Platform (JoGo)

Search Results

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
GATA5_chr20_62458497_62480995	62477098	C C	CTTCCTTC others(41): Show CTTCCTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0263 a0002c0006t0001g0263	1	382	0.0026	48	c.-11 others(59): Show c.-1191_-1190insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGG AAAGAAAGAAGGAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1104		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477237	C C	CCTTTCTT others(41): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0105 a0001c0002t0001g0105	1	382	0.0026	48	c.-13 others(59): Show c.-1330_-1329insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1243		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477245	C C	CCTTTCTT others(41): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0008 a0001c0008t0008	a0001c0008t0008g0145 a0001c0008t0008g0145	1	382	0.0026	48	c.-13 others(59): Show c.-1338_-1337insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1251		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477253	C C	CCTTTCTT others(41): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp2 NA19084.hp1 NA18960.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0001 a0001c0001t0001g0015	2	382	0.0052	48	c.-13 others(59): Show c.-1346_-1345insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1259		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477303	T T	TTTCTTTC others(41): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp1 NA19067.hp2 NA18998.hp1 NA19067.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0123 a0001c0002t0006g0130 a0001c0002t0006g0123 a0001c0002t0006g0130	2	382	0.0052	48	c.-13 others(59): Show c.-1396_-1395insGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1309		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477303	T T	TTTCTTTC others(41): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0118 a0001c0002t0019g0118	1	382	0.0026	48	c.-13 others(59): Show c.-1396_-1395insGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1309		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477303	T T	TTTCTTTC others(41): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0102 a0001c0002t0002g0102	1	382	0.0026	48	c.-13 others(59): Show c.-1396_-1395insGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1309		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(41): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTCCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0270 a0001c0004t0005g0270	1	382	0.0026	48	c.-13 others(59): Show c.-1398_-1397insGAGGGAGGGAGGAAGGAAGGAAAGAAAGAAAGAA AGAAAGAAAGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(41): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0058 a0001c0003t0002g0058	1	382	0.0026	48	c.-13 others(59): Show c.-1398_-1397insGAGGGAGGAAGGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(41): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG02074.hp1 HG01433.hp2 HG02074.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0017 a0001c0001 a0003c0017	a0001c0001t0002 a0003c0017t0035 a0001c0001t0002 a0003c0017t0035	a0001c0001t0002g0008 a0003c0017t0035g0051 a0001c0001t0002g0008 a0003c0017t0035g0051	2	382	0.0052	48	c.-13 others(59): Show c.-1398_-1397insGAGGGAGGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(41): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	382	0.0026	48	c.-13 others(59): Show c.-1398_-1397insGAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA6_chr18_22164589_22207528	22204288	C C	CTCTTTCT others(41): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01081.hp2 HG01123.hp2 others(11): Show HG01074.hp1 HG01081.hp2 HG01123.hp2 HG01496.hp1 HG02055.hp1 HG02922.hp1 HG02970.hp2 HG03516.hp1 HG03927.hp1 NA18964.hp2 NA19030.hp2 NA19079.hp2 NA19240.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0002c0002t0002 a0001c0001t0002 a0001c0001t0004 a0002c0002t0002	a0001c0001t0002g0084 a0001c0001t0002g0105 a0001c0001t0002g0141 others(11): Show a0001c0001t0002g0084 a0001c0001t0002g0105 a0001c0001t0002g0141 a0001c0001t0002g0172 a0001c0001t0002g0222 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0234 a0001c0001t0002g0236 a0001c0001t0004g0025 a0002c0002t0002g0001 a0002c0002t0002g0044 a0002c0002t0002g0046 a0002c0002t0002g0047	14	286	0.0490	48	c.34 others(59): Show c.3465_*3466insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTT	GATA6	ENSG00000141448.11	transcript	ENST00000269216.10	protein_coding		1761		chr18	TogoVar
GATAD2B_chr1_153799725_153927972	153861795	A A	AAAAAAAA others(41): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02451.hp1 HG02895.hp2 HG01433.hp2 HG02451.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0016 a0001c0001t0027 a0001c0001t0004 a0001c0001t0016 a0001c0001t0027	a0001c0001t0004g0347 a0001c0001t0016g0342 a0001c0001t0027g0343 a0001c0001t0004g0347 a0001c0001t0016g0342 a0001c0001t0027g0343	3	349	0.0086	48	c.-1- others(65): Show c.-1-33448_-1-33447insATATATATATATATATATATATATATAT TTTTTTTTTTTTTTTTTTTT	GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	1/10			chr1	TogoVar
GATB_chr4_151665504_151766007	151697949	G G	GTATATAT others(41): Show GTATATATATATATATATGTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	320	0.0031	48	c.119 others(67): Show c.1197+3379_1197+3380insTATATATATATATATATATATATATA TACACATATATATATATATATA	GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding	9/12			chr4	TogoVar
GATD1_chr11_762222_782487	763204	G G	GCCCCGCC others(41): Show GCCCCGCCCTCACCCGCCCCCGCCCTCACCCGCCCCCGCCCTCACCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00673.hp1 NA18961.hp2 others(2): Show HG00609.hp2 HG00673.hp1 NA18961.hp2 NA18962.hp1 NA18967.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0004 a0001c0003t0004g0042 a0001c0003t0004g0004 a0001c0003t0004g0042	5	430	0.0116	48	c.76 others(59): Show c.7692_*7693insGCGGGTGAGGGCGGGGGCGGGTGAGGGCGGGGGC GGGTGAGGGCGGGG	GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding		4017		chr11	TogoVar
GATD1_chr11_762222_782487	763236	C C	CCCCCGCC others(41): Show CCCCCGCCCTCACCCGCCCCCCGCCCTCACCCGCCCCCGCCCTCACCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0100 a0001c0001t0030g0100	1	430	0.0023	48	c.76 others(59): Show c.7660_*7661insACGGTGAGGGCGGGGGCGGGTGAGGGCGGGGGGC GGGTGAGGGCGGGG	GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding		3985		chr11	TogoVar
GATD1_chr11_762222_782487	763236	C C	CCCCCGCC others(41): Show CCCCCGCCCTCACCCGCCCCCGCCCTCACCCGCCCCCGCCCTCACCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 NA18747.hp1 NA18943.hp1 HG02129.hp1 NA18747.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0022 a0001c0001t0060 a0001c0001t0005 a0001c0001t0022 a0001c0001t0060	a0001c0001t0005g0015 a0001c0001t0022g0122 a0001c0001t0060g0082 a0001c0001t0005g0015 a0001c0001t0022g0122 a0001c0001t0060g0082	3	430	0.0070	48	c.76 others(59): Show c.7660_*7661insATGGGTGAGGGCGGGGGCGGGTGAGGGCGGGGGC GGGTGAGGGCGGGG	GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding		3985		chr11	TogoVar
GATD1_chr11_762222_782487	763267	T T	CCCCCGCC others(41): Show CCCCCGCCCTCACCCGCCCCCCGCCCTCACCCGCCCCCGCCCTCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0023 a0001c0001t0005g0023	1	430	0.0023	48	c.76 others(58): Show c.7630delAinsCGGGTGAGGGCGGGGGCGGGTGAGGGCGGGGGGCGG GTGAGGGCGGGGG	GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding		3955		chr11	TogoVar
GBP2_chr1_89101132_89131114	89102931	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0062 a0002c0002t0005g0062	1	414	0.0024	48	c.52 others(59): Show c.5243_*5244insATATATATATATATATTATATATATATATATATA TATATATATATATA	GBP2	ENSG00000162645.13	transcript	ENST00000370466.4	protein_coding		3200		chr1	TogoVar
GBP2_chr1_89101132_89131114	89102931	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0063 a0002c0002t0005g0063	1	414	0.0024	48	c.52 others(59): Show c.5243_*5244insATATATATATATATTATATATATATATATATATA TATATATATATATA	GBP2	ENSG00000162645.13	transcript	ENST00000370466.4	protein_coding		3200		chr1	TogoVar
GBP2_chr1_89101132_89131114	89102931	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0065 a0002c0002t0005g0065	1	414	0.0024	48	c.52 others(59): Show c.5243_*5244insATATATATATATTATATATATATATATATATATA TATATATATATATA	GBP2	ENSG00000162645.13	transcript	ENST00000370466.4	protein_coding		3200		chr1	TogoVar
GCN1_chr12_120122202_120199715	120198059	G G	GCACCCTC others(41): Show GCACCCTCAACCTCTAAAAGGCTTTGACTGCAAATGTGAGTCTCATGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0125 a0001c0002t0002g0125	1	312	0.0032	48	c.-33 others(59): Show c.-3363_-3362insTGCATGAGACTCACATTTGCAGTCAAAGCCTTTT AGAGGTTGAGGGTG	GCN1	ENSG00000089154.11	transcript	ENST00000300648.7	protein_coding		3345		chr12	TogoVar
GCNT2_chr6_10516351_10634368	10569235	C C	CCACACAC others(41): Show CCACACACACACACACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	324	0.0031	48	c.925 others(67): Show c.925+39438_925+39439insACACACACACACACACACACACACAC ACACACACACACACACACACAC	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(41): Show CCACACACACACACACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0342 a0001c0001t0001g0342	1	344	0.0029	48	c.919 others(67): Show c.919+11932_919+11933insACACACACACACACACACACACACAC ACACACACACACACACACACAC	GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT3_chr15_59606783_59627723	59610507	C C	CTCCTTCC others(41): Show CTCCTTCCTTCCATCCCTCCTTCCGTCCCTCCTTCCTTCCCTCCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0041 a0002c0004t0041	a0002c0004t0041g0054 a0002c0004t0041g0054	1	428	0.0023	48	c.-17 others(59): Show c.-1725_-1724insTCCTTCCTTCCATCCCTCCTTCCGTCCCTCCTTC CTTCCCTCCTTCCT	GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding		1275		chr15	TogoVar
GDPD1_chr17_59215511_59280970	59255863	A A	ATATATAT others(41): Show ATATATATATACACGTATATATATATATATATATATATATACACACACG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0237 a0001c0001t0007g0237	1	312	0.0032	48	c.368 others(65): Show c.368-1249_368-1248insCACGTATATATATATATATATATATATA TACACACACGTATATATATA	GDPD1	ENSG00000153982.11	transcript	ENST00000284116.9	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
GFOD1_chr6_13352830_13492600	13409088	G G	GGAAAGAA others(41): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	230	0.0044	48	c.254 others(67): Show c.254-43474_254-43427dupTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTC	GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1			chr6	TogoVar
GFPT1_chr2_69314780_69392227	69391360	A A	AGAAATAT others(41): Show AGAAATATATAAAAAATTAAAAATAGAATGATAAATAATAATAGCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0223 a0001c0002t0017g0223	1	366	0.0027	48	c.-42 others(59): Show c.-4290_-4289insAGAAGCTATTATTATTTATCATTCTATTTTTAAT TTTTTATATATTTC	GFPT1	ENSG00000198380.13	transcript	ENST00000357308.9	protein_coding		4134		chr2	TogoVar
GHRHR_chr7_30958953_30984528	30968640	C C	CCCTCCCT others(41): Show CCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03225.hp1 NA19240.hp1 HG02109.hp2 HG03225.hp1 NA19240.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0107 a0003c0003t0001g0151 a0003c0003t0001g0159 a0003c0003t0001g0107 a0003c0003t0001g0151 a0003c0003t0001g0159	3	422	0.0071	48	c.58- others(61): Show c.58-191_58-190insCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCT	GHRHR	ENSG00000106128.19	transcript	ENST00000326139.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
GHRHR_chr7_30958953_30984528	30968640	C C	CCCTCCCT others(41): Show CCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	422	0.0024	48	c.58- others(61): Show c.58-191_58-190insCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCT	GHRHR	ENSG00000106128.19	transcript	ENST00000326139.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
GHR_chr5_42418439_42726878	42474285	A A	AAGAAAGA others(41): Show AAGAAAGAAAAAGAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0007 a0001c0008t0007	a0001c0008t0007g0083 a0001c0008t0007g0084 a0001c0008t0007g0083 a0001c0008t0007g0084	2	210	0.0095	48	c.-12 others(67): Show c.-12+50331_-12+50332insGAAAGAAAAAGAGAAAGAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42474295	G G	GAAAGAAA others(41): Show GAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18967.hp1 NA18939.hp2 NA18967.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0011 a0004c0004t0016 a0004c0004t0011 a0004c0004t0016	a0004c0004t0011g0001 a0004c0004t0016g0028 a0004c0004t0011g0001 a0004c0004t0016g0028	2	210	0.0095	48	c.-12 others(67): Show c.-12+50341_-12+50342insAAGAAAGAAAGAAAGAAAGAGAAAGA AAGAAAGAAAGAAAGAAAGAAA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42474295	G G	GAGAAAGA others(41): Show GAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0067 a0001c0001t0005g0067	1	210	0.0048	48	c.-12 others(67): Show c.-12+50347_-12+50348insGAAAGAAAGAAAGAAAGAAAGAAAGA GAAAGAAAGAAAGAAAGAAAGA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42583878	G G	GATATATA others(41): Show GATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0016 a0004c0004t0016	a0004c0004t0016g0028 a0004c0004t0016g0028	1	210	0.0048	48	c.70+ others(65): Show c.70+17953_70+17954insTATATATATATATATATATATATATATA TATATATATATATATATATA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GIPC1_chr19_14472762_14501127	14496041	T T	TCCGCCGC others(41): Show TCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02056.hp1 NA18962.hp2 NA19002.hp2 HG02056.hp1 NA18962.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0037 a0001c0001t0021g0384 a0001c0001t0021g0037 a0001c0001t0021g0384	3	444	0.0068	48	c.-18 others(57): Show c.-180_-179insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG CGGCGGCGGCGG	GIPC1	ENSG00000123159.16	transcript	ENST00000393033.9	protein_coding	1/9	13066		chr19	TogoVar
GKN1_chr2_68969636_68985976	68978271	G G	GGAAGGAA others(41): Show GGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01433.hp1 HG01891.hp1 HG00735.hp1 HG01433.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	3	464	0.0065	48	c.204 others(63): Show c.204+500_204+501insGGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAA	GKN1	ENSG00000169605.7	transcript	ENST00000377938.4	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
GKN1_chr2_68969636_68985976	68978271	G G	GGAAGGAA others(41): Show GGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp2 HG01943.hp2 others(20): Show HG00609.hp1 HG00609.hp2 HG01943.hp2 HG02004.hp2 HG02071.hp1 HG02451.hp2 HG02523.hp2 HG02896.hp2 HG03209.hp2 HG03688.hp2 NA18747.hp2 NA18955.hp2 NA18979.hp2 NA18992.hp2 NA19001.hp1 NA19009.hp2 NA19011.hp2 NA19043.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19083.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0029 a0001c0001t0001g0085 others(1): Show a0001c0001t0001g0005 a0001c0001t0001g0029 a0001c0001t0001g0085 a0001c0001t0001g0097	23	464	0.0496	48	c.204 others(63): Show c.204+500_204+501insGGAAGGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAA	GKN1	ENSG00000169605.7	transcript	ENST00000377938.4	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
GKN1_chr2_68969636_68985976	68978271	G G	GGAAGGAA others(41): Show GGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	464	0.0022	48	c.204 others(63): Show c.204+500_204+501insGGAAGGAAGGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAA	GKN1	ENSG00000169605.7	transcript	ENST00000377938.4	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
GKN1_chr2_68969636_68985976	68978294	A A	AAGAAAGA others(41): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0087 a0001c0003t0003g0087	1	464	0.0022	48	c.204 others(63): Show c.204+523_204+524insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAGAGA	GKN1	ENSG00000169605.7	transcript	ENST00000377938.4	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
GLB1L3_chr11_134271379_134324564	134308348	C C	CACCATCA others(41): Show CACCATCACCATCACCATCATCACCATCACCTCCACCACCACCACCACT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0099 a0001c0005t0002g0099	1	422	0.0024	48	c.961 others(65): Show c.961+1141_961+1142insCCATCACCATCACCATCATCACCATCAC CTCCACCACCACCACCACTA	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GLB1_chr3_32991617_33102146	33074389	G G	GAAGAAAG others(41): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0231 a0001c0010t0001g0231	1	394	0.0025	48	c.76- others(63): Show c.76-1677_76-1676insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33074389	G G	GAAGGAAG others(41): Show GAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	394	0.0025	48	c.76- others(63): Show c.76-1677_76-1676insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTCCTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33074389	G G	GAAGGAAG others(41): Show GAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03654.hp2 NA19010.hp2 HG02976.hp2 HG03654.hp2 NA19010.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0002 a0002c0003 a0001c0005 a0002c0002 a0002c0003	a0001c0005t0001 a0002c0002t0002 a0002c0003t0001 a0001c0005t0001 a0002c0002t0002 a0002c0003t0001	a0001c0005t0001g0234 a0002c0002t0002g0285 a0002c0003t0001g0318 a0001c0005t0001g0234 a0002c0002t0002g0285 a0002c0003t0001g0318	3	394	0.0076	48	c.76- others(63): Show c.76-1677_76-1676insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTCCTTCCTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33074389	G G	GAAGGAAG others(41): Show GAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0284 a0002c0002t0002g0284	1	394	0.0025	48	c.76- others(63): Show c.76-1677_76-1676insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTCCTTCCTTCCTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33074389	G G	GAAGGAAG others(41): Show GAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02040.hp1 NA18948.hp1 others(2): Show HG02027.hp2 HG02040.hp1 NA18948.hp1 NA18983.hp1 NA19074.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0258 a0002c0003t0001g0307 a0002c0003t0001g0308 others(2): Show a0002c0003t0001g0258 a0002c0003t0001g0307 a0002c0003t0001g0308 a0002c0003t0001g0309 a0002c0003t0001g0310	5	394	0.0127	48	c.76- others(63): Show c.76-1677_76-1676insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTCCTTCCTTCCTTCCTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33074389	G G	GAAGGAAG others(41): Show GAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA19009.hp1 HG02723.hp1 NA19009.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0015 a0002c0003t0001g0298 a0001c0001t0001g0015 a0002c0003t0001g0298	2	394	0.0051	48	c.76- others(63): Show c.76-1677_76-1676insTCTTTCTTTCTTTCTTTCTTTCTTTCTTCC TTCCTTCCTTCCTTCCTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33074389	G G	GAAGGAAG others(41): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA19076.hp2 HG00621.hp2 NA19076.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0016 a0002c0002 a0006c0016	a0002c0002t0002 a0006c0016t0001 a0002c0002t0002 a0006c0016t0001	a0002c0002t0002g0320 a0006c0016t0001g0342 a0002c0002t0002g0320 a0006c0016t0001g0342	2	394	0.0051	48	c.76- others(63): Show c.76-1677_76-1676insTCTTTCTTTCTTTCTTTCTTTCTTCCTTCC TTCCTTCCTTCCTTCCTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33074389	G G	GAAGGAAG others(41): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	394	0.0025	48	c.76- others(63): Show c.76-1677_76-1676insTCTTTCTTTCTTTCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLCE_chr15_69155635_69277207	69177684	C C	CCTTTATC others(41): Show CCTTTATCATCTTTACTTCATGCCGCTTTATCATCTTTACTTCATGCCG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02717.hp1 HG01255.hp1 HG02717.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0002 a0001c0001t0003 a0002c0002t0002	a0001c0001t0003g0129 a0002c0002t0002g0128 a0001c0001t0003g0129 a0002c0002t0002g0128	2	342	0.0059	48	c.-10 others(69): Show c.-105+16951_-105+16998dupGCTTTATCATCTTTACTTCATGCC GCTTTATCATCTTTACTTCATGCC	GLCE	ENSG00000138604.10	transcript	ENST00000261858.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr15	TogoVar
GLDC_chr9_6527467_6650729	6629942	T T	TGTATATA others(41): Show TGTATATATATATATATGTATATATATATATATATATATATATGTATAC	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0196 a0001c0001t0002g0196	1	342	0.0029	48	c.335 others(65): Show c.335-9624_335-9623insGTATACATATATATATATATATATATAT ATACATATATATATATATAC	GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding	2/24			chr9	TogoVar