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
GHR_chr5_42418439_42726878	42474295	G G	GAAAAAGA others(43): Show GAAAAAGAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGA A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0183 a0001c0001t0005g0183	1	12	0.0833	50	c.-12 others(69): Show c.-12+50341_-12+50342insAAAAGAGAAAGAGAAAGAAAGAAAGA AAGAAAGAAAGAGAAAGAAAGAAA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42474295	G G	GAAAAAGA others(43): Show GAAAAAGAGAAAGAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGA A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0010 a0003c0006t0010	a0003c0006t0010g0070 a0003c0006t0010g0070	1	12	0.0833	50	c.-12 others(69): Show c.-12+50341_-12+50342insAAAAGAGAAAGAGAAAGAAAGAAAGA AAGAAAGAGAAAGAAAGAAAGAAA	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(43): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGA A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0009 a0003c0006t0009	a0003c0006t0009g0204 a0003c0006t0009g0204	1	12	0.0833	50	c.-12 others(69): Show c.-12+50375_-12+50376insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GJA10_chr6_89889469_89901120	89898084	T T	TCTTTCCT others(43): Show TCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	271	0.0037	50	c.19 others(61): Show c.1984_*1985insCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTC	GJA10	ENSG00000135355.4	transcript	ENST00000369352.1	protein_coding		1965		chr6	TogoVar
GJA9_chr1_38869069_38886587	38882338	A A	ATATATAT others(43): Show ATATATATAAATATATATATATATATATATATATATTTACATATATATAT T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0091 a0001c0003t0004g0091	1	413	0.0024	50	c.-10 others(61): Show c.-1003_-1002insAATATATATATGTAAATATATATATATATATATA TATATATTTATATATA	GJA9	ENSG00000131233.10	transcript	ENST00000357771.5	protein_coding		752		chr1	TogoVar
GLB1_chr3_32991617_33102146	33074381	G G	GAAGAAAG others(43): Show GAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	334	0.0030	50	c.76- others(65): Show c.76-1669_76-1668insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTTTCTTTCTTTCTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33074385	G G	GAAGAAAG others(43): Show GAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0216 a0001c0006t0001g0216	1	269	0.0037	50	c.76- others(65): Show c.76-1673_76-1672insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTTTCTTTCTTTCTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33074389	G G	GAAGAAAG others(43): Show GAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG A	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA19080.hp2 NA18984.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0217 a0001c0001t0001g0208 a0001c0001t0001g0217	2	21	0.0952	50	c.76- others(65): Show c.76-1677_76-1676insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTTTCTTTCTTTCTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33074389	G G	GAAGGAAG others(43): Show GAAGGAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG A	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA19064.hp1 HG03098.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0151 a0001c0001t0004g0203 a0001c0001t0001g0151 a0001c0001t0004g0203	2	21	0.0952	50	c.76- others(65): Show c.76-1677_76-1676insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTTTCTTTCTTTCTTCCTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33074389	G G	GAAGGAAG others(43): Show GAAGGAAGGAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAG A	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18979.hp1 NA18747.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0139 a0001c0001t0001g0113 a0001c0001t0001g0139	2	21	0.0952	50	c.76- others(65): Show c.76-1677_76-1676insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTT TCTTTCTTTCTTCCTTCCTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33074408	G G	GAAAGAAA others(43): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA A	intron_variant intron_variant	MODIFIER	HG03688.hp2 NA19002.hp1 HG03688.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0069 a0001c0001t0002g0059 a0001c0001t0002g0069	2	351	0.0057	50	c.76- others(65): Show c.76-1696_76-1695insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLDC_chr9_6527467_6650729	6528865	A A	ATATGTAT others(43): Show ATATGTATATATTATGTATATATGATATATATTATGTATATATACATATA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0157 a0001c0001t0003g0157	1	340	0.0029	50	c.41 others(61): Show c.4151_*4152insATATATGTATATATACATAATATATATCATATAT ACATAATATATACATA	GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding		3601		chr9	TogoVar
GLDC_chr9_6527467_6650729	6629942	T T	TGTATATA others(43): Show TGTATATATATATATATGTATATATATATATATATATATATATATGTATA C	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA19056.hp2 NA18960.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0191 a0001c0001t0001g0185 a0001c0001t0001g0191	2	339	0.0059	50	c.335 others(67): Show c.335-9624_335-9623insGTATACATATATATATATATATATATAT ATATACATATATATATATATAC	GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding	2/24			chr9	TogoVar
GLI3_chr7_41955949_42242209	42182662	A A	ATATATAT others(43): Show ATATATATATATATACATGTGTGTATATATATATATATATATACATGTGT G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0106 a0002c0002t0002g0106	1	143	0.0070	50	c.125 others(69): Show c.125-34195_125-34194insCACACATGTATATATATATATATATA TACACACATGTATATATATATATA	GLI3	ENSG00000106571.15	transcript	ENST00000395925.8	protein_coding	2/14			chr7	TogoVar
GLRA1_chr5_151817513_151929851	151849367	C C	CTTCCTTT others(43): Show CTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC T	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0274 a0001c0001t0002g0274	1	280	0.0036	50	c.912 others(67): Show c.912+2022_912+2023insAGGAAAGGAAAGGAAAGGAAAGGAAAGG AAAGGAAAGGAAAGGAAAGGAA	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar
GLRA1_chr5_151817513_151929851	151849376	G G	GTTTCCTT others(43): Show GTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC C	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01928.hp2 NA18966.hp1 others(1): Show HG01071.hp2 HG01928.hp2 NA18966.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0046 a0001c0001t0001g0075 a0001c0001t0002g0263 others(1): Show a0001c0001t0001g0046 a0001c0001t0001g0075 a0001c0001t0002g0263 a0001c0001t0002g0277	4	222	0.0180	50	c.912 others(67): Show c.912+1964_912+2013dupGGAAAGGAAAGGAAAGGAAAGGAAAGGA AAGGAAAGGAAAGGAAAGGAAA	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar
GLRA1_chr5_151817513_151929851	151849376	G G	GTTTCCTT others(43): Show GTTTCCTTTCGTTTCCTTTCCTTTCCTTTCATTTCCTTTCCTTTCCTTTC C	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0171 a0001c0002t0001g0171	1	219	0.0046	50	c.912 others(67): Show c.912+2013_912+2014insGGAAAGGAAAGGAAAGGAAATGAAAGGA AAGGAAAGGAAACGAAAGGAAA	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar
GLRA1_chr5_151817513_151929851	151849452	T T	TTTCCTTT others(43): Show TTTCCTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTC C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00408.hp1 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0094 a0001c0001t0001g0079 a0001c0001t0001g0094	2	172	0.0116	50	c.912 others(67): Show c.912+1937_912+1938insGGAAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAAGGAAAGGAA	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar
GLRA1_chr5_151817513_151929851	151849452	T T	TTTCCTTT others(43): Show TTTCCTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTC C	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18995.hp2 NA19009.hp1 others(2): Show NA18962.hp1 NA18995.hp2 NA19009.hp1 NA19082.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0081 a0001c0001t0001g0083 others(2): Show a0001c0001t0001g0056 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0104	5	175	0.0286	50	c.912 others(67): Show c.912+1937_912+1938insGGAAGGAAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAAGGAAAGGAA	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar
GLT6D1_chr9_135618648_135644540	135620157	T T	TCTACTCC others(43): Show TCTACTCCCCCTTCTCCCCCTACTCCTTCTCCCCTTCTCCCCCTTCCCCC C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 NA19030.hp2 HG02922.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0039 a0001c0001t0003g0039	2	416	0.0048	50	c.39 others(61): Show c.3939_*3940insGGGGGGAAGGGGGAGAAGGGGAGAAGGAGTAGGG GGAGAAGGGGGAGTAG	GLT6D1	ENSG00000204007.8	transcript	ENST00000371763.6	protein_coding		3490		chr9	TogoVar
GMIP_chr19_19624476_19648657	19629217	C C	CGGGCATG others(43): Show CGGGCATGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0130 a0002c0016t0001g0130	1	414	0.0024	50	c.74 others(59): Show c.745_*746insTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGC CTGCCACCATGCCC	GMIP	ENSG00000089639.11	transcript	ENST00000203556.9	protein_coding		258		chr19	TogoVar
GNA12_chr7_2723105_2849308	2812636	A A	AACATCAC others(43): Show AACATCACATCACATCACATCACATCACATCACATCACATCACATCACAT C	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA21309.hp2 HG02572.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0006 a0001c0001t0006g0270 a0001c0001t0006g0006 a0001c0001t0006g0270	2	108	0.0185	50	c.310 others(69): Show c.310-17543_310-17494dupGATGTGATGTGATGTGATGTGATGTG ATGTGATGTGATGTGATGTGATGT	GNA12	ENSG00000146535.14	transcript	ENST00000275364.8	protein_coding	1/3			chr7	TogoVar
GNB5_chr15_52110100_52196392	52117102	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0116 a0001c0001t0116	a0001c0001t0116g0010 a0001c0001t0116g0010	1	159	0.0063	50	c.56 others(61): Show c.5654_*5655insAAAAAAAAAAAAAAAAAAAAAATATATATATATA TATATATATATATATA	GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding	13/13	5654		chr15	TogoVar
GNB5_chr15_52110100_52196392	52117102	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTT T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0165 a0001c0001t0165	a0001c0001t0165g0322 a0001c0001t0165g0322	1	159	0.0063	50	c.56 others(61): Show c.5654_*5655insAAAAAAAAAAAAAAAAAAAAAAAATATATATATA TATATATATATATATA	GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding	13/13	5654		chr15	TogoVar
GNPDA1_chr5_141995671_142018027	142014669	A A	ATGGAGTC others(43): Show ATGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTCTCGCTCTGTTGCCCAGG C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02559.hp1 HG02818.hp2 others(4): Show HG01243.hp2 HG02559.hp1 HG02818.hp2 HG02970.hp2 HG03041.hp2 HG03195.hp1 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0009 others(1): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0009 a0001c0002t0017	a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0071 others(3): Show a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0071 a0001c0002t0003g0077 a0001c0002t0009g0030 a0001c0002t0017g0075	7	210	0.0333	50	c.-16 others(61): Show c.-1682_-1681insGCCTGGGCAACAGAGCGAGACTCCAGCCTGGGCA ACAGAGCGAGACTCCA	GNPDA1	ENSG00000113552.16	transcript	ENST00000311337.11	protein_coding		1643		chr5	TogoVar
GOLM2_chr15_44283719_44420758	44369075	A A	ATATATTA others(43): Show ATATATTATATATATATATATATACATATTATATATATATATATATATAT G	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	146	0.0068	50	c.803 others(69): Show c.803-10610_803-10609insTATATATATATATATATACATATTAT ATATATATATATATATATGTATAT	GOLM2	ENSG00000166734.20	transcript	ENST00000299957.11	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GOLM2_chr15_44283719_44420758	44369077	A A	ATATTATA others(43): Show ATATTATATATATATATATATACATATTATATATATATATATATATATAT G	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	147	0.0068	50	c.803 others(69): Show c.803-10610_803-10609insTATATATATATATATATACATATTAT ATATATATATATATATATATGTAT	GOLM2	ENSG00000166734.20	transcript	ENST00000299957.11	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GON4L_chr1_155744659_155862214	155809542	T T	TTATATAC others(43): Show TTATATACTTATAAATTATATACTTATATATACTTATAAATTATATACTT A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01109.hp2 HG00140.hp1 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0004 a0001c0001t0001 a0001c0006t0004	a0001c0001t0001g0012 a0001c0006t0004g0212 a0001c0001t0001g0012 a0001c0006t0004g0212	2	205	0.0098	50	c.145 others(69): Show c.1452+4042_1452+4091dupTAAGTATATAATTTATAAGTATATAT AAGTATATAATTTATAAGTATATA	GON4L	ENSG00000116580.20	transcript	ENST00000368331.6	protein_coding	10/31			chr1	TogoVar
GON4L_chr1_155744659_155862214	155809749	C C	CTTATAAA others(43): Show CTTATAAATTATATACTTATATATACTTATAAATTATATACTTATATATA A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0199 a0003c0004t0003g0199	1	69	0.0145	50	c.145 others(69): Show c.1452+3884_1452+3885insTTATATATAAGTATATAATTTATAAG TATATATAAGTATATAATTTATAA	GON4L	ENSG00000116580.20	transcript	ENST00000368331.6	protein_coding	10/31			chr1	TogoVar
GPC5_chr13_91393621_92872237	92381897	A A	ATGATATA others(43): Show ATGATATATATATATCATATATATCATATATATGATATATATATATCATA T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	25	0.0400	50	c.156 others(73): Show c.1561+236908_1561+236909insTGATATATATATATCATATATA TCATATATATGATATATATATATCATAT	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7			chr13	TogoVar
GPC6_chr13_93221807_94413020	93324573	C C	CACACATA others(43): Show CACACATACATACATATATATATATACACACATACATACATATATATATA T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0034 a0001c0001t0007g0034	1	76	0.0132	50	c.160 others(69): Show c.160+96962_160+96963insTACATACATATATATATATACACACA TACATACATATATATATATACACA	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPR139_chr16_20023239_20078890	20041118	A A	AAGGAGAG others(43): Show AAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0088 a0001c0001t0031g0088	1	267	0.0037	50	c.128 others(67): Show c.128-8450_128-8449insCTCCTCTCCTCTCCTCTCCTCTCCTCTC CTCTCCTCTCCTCTCCTCTCCT	GPR139	ENSG00000180269.8	transcript	ENST00000570682.2	protein_coding	1/1			chr16	TogoVar
GPR139_chr16_20023239_20078890	20041152	A A	AGAGGAGA others(43): Show AGAGGAGAGGAGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG G	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0069 a0001c0001t0008g0069	1	282	0.0035	50	c.128 others(67): Show c.128-8484_128-8483insCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCTCCTCTCCTC	GPR139	ENSG00000180269.8	transcript	ENST00000570682.2	protein_coding	1/1			chr16	TogoVar
GPR139_chr16_20023239_20078890	20041152	A A	AGAGGAGA others(43): Show AGAGGAGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG G	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0282 a0001c0001t0005g0282	1	282	0.0035	50	c.128 others(67): Show c.128-8484_128-8483insCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCTCCTC	GPR139	ENSG00000180269.8	transcript	ENST00000570682.2	protein_coding	1/1			chr16	TogoVar
GPR139_chr16_20023239_20078890	20041152	A A	AGAGGGGA others(43): Show AGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0297 a0001c0001t0005g0297	1	282	0.0035	50	c.128 others(67): Show c.128-8484_128-8483insCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTC	GPR139	ENSG00000180269.8	transcript	ENST00000570682.2	protein_coding	1/1			chr16	TogoVar
GPR158_chr10_25170001_25607229	25241372	C C	CTCTTTTC others(43): Show CTCTTTTCTCTTCTCTCTTCTCTCTTCTCTCTTCTCTCTTCTCTCTTCTC T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0020 a0002c0018t0020	a0002c0018t0020g0157 a0002c0018t0020g0157	1	54	0.0185	50	c.100 others(71): Show c.1008+20218_1008+20219insTTTCTCTTCTCTCTTCTCTCTTCT CTCTTCTCTCTTCTCTCTTCTCTTCT	GPR158	ENSG00000151025.11	transcript	ENST00000376351.4	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
GPR42_chr19_35366068_35377962	35375461	G G	GGAAAGAA others(43): Show GGAAAGAAAGAAAGAGAGAAAGAAAGAAAAGGAAAGAAGGAAAGAAAGAA A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG02074.hp2 others(27): Show HG00438.hp2 HG00544.hp2 HG02074.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp1 HG02723.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG03453.hp2 HG03540.hp2 HG03579.hp2 NA18906.hp1 NA18939.hp2 NA18948.hp1 NA18949.hp2 NA18981.hp1 NA18982.hp2 NA18988.hp2 NA19001.hp2 NA19058.hp1 NA19065.hp1 NA19068.hp1 NA19072.hp2 NA19084.hp2 NA19085.hp1 NA20300.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0021 a0010c0012 a0001c0001 a0001c0021 a0010c0012	a0001c0001t0001 a0001c0001t0005 a0001c0021t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0021t0001 a0010c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0005g0001 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0005g0001 a0001c0021t0001g0001 a0010c0012t0001g0001	30	137	0.2190	50	c.30 others(61): Show c.3061_*3062insGAAAGAAAGAAAGAGAGAAAGAAAGAAAAGGAAA GAAGGAAAGAAAGAAA	GPR42	ENSG00000126251.7	transcript	ENST00000454971.3	protein_coding		2500		chr19	TogoVar
GPR89B_chr1_147923420_147998592	147949919	G G	GGGGGGCT others(43): Show GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGC A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	268	0.0037	50	c.416 others(67): Show c.416-3410_416-3409insCACCTCCCTCCCGGACGGGGTGGCTGGC CGGGCAGGGGGCTGACCCCCCC	GPR89B	ENSG00000188092.15	transcript	ENST00000314163.12	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
GPRC5D_chr12_12935575_12957170	12956446	T T	TTTCCTTC others(43): Show TTTCCTTCCTTCCTTCTCCTTCCTTTTTCCTCCCCTTCCTTCCTTCCTTC C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00597.hp1 NA21309.hp1 HG00323.hp2 HG00597.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0018 a0001c0002t0001g0090 a0001c0002t0001g0003 a0001c0002t0001g0018 a0001c0002t0001g0090	3	137	0.0219	50	c.-43 others(61): Show c.-4386_-4385insGGAAGGAAGGAAGGAAGGGGAGGAAAAAGGAAGG AGAAGGAAGGAAGGAA	GPRC5D	ENSG00000111291.9	transcript	ENST00000228887.6	protein_coding		4277		chr12	TogoVar
GPRC5D_chr12_12935575_12957170	12956446	T T	TTTCCTTC others(43): Show TTTCCTTCCTTCCTTCTCCTTCCTTTTTCCTCCTTTTCCTTCCTTCCTTC C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01257.hp2 HG01258.hp1 others(9): Show HG00639.hp2 HG01257.hp2 HG01258.hp1 HG01361.hp1 HG02293.hp1 HG02559.hp2 HG02886.hp1 HG02976.hp2 HG06807.hp1 NA18945.hp1 NA19009.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0014 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0131 a0001c0001t0001g0147 a0001c0001t0001g0162 a0001c0001t0001g0236 a0001c0001t0001g0237	12	146	0.0822	50	c.-43 others(61): Show c.-4386_-4385insGGAAGGAAGGAAGGAAAAGGAGGAAAAAGGAAGG AGAAGGAAGGAAGGAA	GPRC5D	ENSG00000111291.9	transcript	ENST00000228887.6	protein_coding		4277		chr12	TogoVar
GPSM2_chr1_108871985_108939545	108908728	A A	AACACACA others(43): Show AACACACACACACACACACACACACACACACACACACACACACACACACA C	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0224 a0003c0003t0003g0224	1	159	0.0063	50	c.119 others(69): Show c.1192+4484_1192+4485insACACACACACACACACACACACACAC ACACACACACACACACACACACAC	GPSM2	ENSG00000121957.15	transcript	ENST00000264126.9	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
GRAMD1B_chr11_123425269_123632767	123457117	A A	AAGAAAGA others(43): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA G	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0087	a0001c0001t0087g0088 a0001c0001t0087g0088	1	119	0.0084	50	c.375 others(69): Show c.375-23698_375-23697insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGA	GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GRAMD1B_chr11_123425269_123632767	123457117	A A	AGAAAGAA others(43): Show AGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA G	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp2 NA19087.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0061 a0001c0001t0006g0156 a0001c0001t0001g0061 a0001c0001t0006g0156	2	120	0.0167	50	c.375 others(69): Show c.375-23699_375-23698insGAAAGAAAGAAAGAAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAG	GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	1/19			chr11	TogoVar
GRAMD4_chr22_46615386_46684785	46615721	G G	GGTTCCCC others(43): Show GGTTCCCCCGTGTGTAGGTTCCCCTGTGCGTGTAGGTTCCCCCATGTGTA A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01243.hp1 HG01884.hp1 others(13): Show HG00642.hp2 HG01243.hp1 HG01884.hp1 HG02145.hp1 HG02258.hp2 HG02451.hp2 HG02559.hp1 HG02615.hp1 HG02630.hp1 HG02896.hp1 HG02965.hp1 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03540.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 others(4): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0019 a0001c0001t0027 a0001c0001t0038 a0001c0002t0004	a0001c0001t0004g0020 a0001c0001t0004g0063 a0001c0001t0005g0047 others(13): Show a0001c0001t0004g0020 a0001c0001t0004g0063 a0001c0001t0005g0047 a0001c0001t0007g0022 a0001c0001t0007g0023 a0001c0001t0007g0024 a0001c0001t0007g0025 a0001c0001t0007g0026 a0001c0001t0007g0027 a0001c0001t0007g0028 a0001c0001t0007g0029 a0001c0001t0007g0046 a0001c0001t0019g0064 a0001c0001t0027g0055 a0001c0001t0038g0180 a0001c0002t0004g0045	16	324	0.0494	50	c.-48 others(61): Show c.-4894_-4893insGTTCCCCCGTGTGTAGGTTCCCCTGTGCGTGTAG GTTCCCCCATGTGTAA	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding		4664		chr22	TogoVar
GREM2_chr1_240484573_240617155	240536743	G G	GGGGGCTG others(43): Show GGGGGCTGTAGATCTGGAAGCCATCTGTAGAGTTTAAGACAAAATGGCAG T	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0259 a0001c0001t0002g0259	1	376	0.0027	50	c.-1- others(67): Show c.-1-43268_-1-43267insACTGCCATTTTGTCTTAAACTCTACAGA TGGCTTCCAGATCTACAGCCCC	GREM2	ENSG00000180875.5	transcript	ENST00000318160.5	protein_coding	1/1			chr1	TogoVar
GRHL1_chr2_9946693_10007277	9998652	A A	ATACATAT others(43): Show ATACATATATATGTACACATATATATGTACACATATATATACATATATAT G	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0107	1	369	0.0027	50	c.167 others(67): Show c.1678-311_1678-310insCATATATATGTACACATATATATGTACA CATATATATACATATATATGTA	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRHL1_chr2_9946693_10007277	9998758	A A	ATATATGT others(43): Show ATATATGTACACATATATATATACGTATATATGTACACATATATATATAC G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02647.hp2 HG02717.hp1 HG02451.hp1 HG02647.hp2 HG02717.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0141 a0003c0003t0001g0142 a0003c0003t0001g0143 a0003c0003t0001g0141 a0003c0003t0001g0142 a0003c0003t0001g0143	3	409	0.0073	50	c.167 others(67): Show c.1678-202_1678-201insGTACACATATATATATACGTATATATGT ACACATATATATATACGTATAT	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRHL1_chr2_9946693_10007277	9998771	C C	CATATATG others(43): Show CATATATGTATACATATATATGTACACATATATATGTACACATATATGTA T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0334 a0001c0001t0002g0334	1	364	0.0027	50	c.167 others(67): Show c.1678-193_1678-192insTATATGTATACATATATATGTACACATA TATATGTACACATATATGTATA	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRHL1_chr2_9946693_10007277	9998829	T T	TATATACG others(43): Show TATATACGTATATATATGTACACACATATATACGTATATATATGTACACA C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0127 a0003c0003t0003g0127	1	415	0.0024	50	c.167 others(67): Show c.1678-131_1678-130insCGTATATATATGTACACACATATATACG TATATATATGTACACACATATA	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRHL2_chr8_101487439_101674726	101509145	C C	CCTCTTTT others(43): Show CCTCTTTTCTTTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTT T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	266	0.0038	50	c.20+ others(67): Show c.20+16358_20+16359insCTTTTCTTTTTCTTTCTTTCTTTTCTTT CTTTCTTTCTTTCTTTCTTTCT	GRHL2	ENSG00000083307.12	transcript	ENST00000646743.1	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr8	TogoVar

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