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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
GIP_chr17_48953554_48973596	48965138	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp2 HG03704.hp2 others(1): Show HG01891.hp1 HG02109.hp2 HG03704.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0078 others(1): Show a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0078 a0001c0001t0001g0086	4	406	0.0099	22	c.87- others(35): Show c.87-659_87-658insTTTTTTTTTTTTTTTTTTTTTT		GIP	ENSG00000159224.4	transcript	ENST00000357424.2	protein_coding	2/5						chr17	TogoVar
GJA10_chr6_89889469_89901120	89900758	T T	TTTTATAT others(15): Show TTTTATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	386	0.0026	22	c.46 others(33): Show c.4658_*4659insTTTATATATATATATATATATA		GJA10	ENSG00000135355.4	transcript	ENST00000369352.1	protein_coding					4639		chr6	TogoVar
GJA4_chr1_34787999_34800747	34794548	A A	AGCTGCGG others(15): Show AGCTGCGGGCACTGCCGGCCAAG	frameshift_variant frameshift_variant	HIGH	HG01258.hp2 HG01258.hp2	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0002 a0008c0014t0002	a0008c0014t0002g0002 a0008c0014t0002g0002	1	416	0.0024	22	c.337 others(29): Show c.337_358dupCTGCGGGCACTGCCGGCCAAGG	p.Asp others(5): Show p.Asp120fs	GJA4	ENSG00000187513.9	transcript	ENST00000342280.5	protein_coding	2/2	446/1621	359/1002	120/333		INFO_REALIGN_3_PRIME	chr1	TogoVar
GJA8_chr1_147897795_147914269	147899925	G G	GAGAAAGA others(15): Show GAGAAAGAAAGAAAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp2 HG03491.hp2 HG03492.hp1 others(4): Show HG02083.hp2 HG03491.hp2 HG03492.hp1 HG04184.hp2 NA18993.hp2 NA19010.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0003 a0001c0002t0001g0003 a0001c0001t0001g0003 a0001c0002t0001g0003	7	472	0.0148	22	c.-29 others(33): Show c.-2948_-2947insAGAAAGAAAGAAAAAGAAAGAA		GJA8	ENSG00000121634.6	transcript	ENST00000369235.2	protein_coding					2869		chr1	TogoVar
GJA9_chr1_38869069_38886587	38882338	A A	ATATATAT others(15): Show ATATATATTTACATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG02015.hp2 HG02129.hp1 others(9): Show HG01081.hp1 HG02015.hp2 HG02129.hp1 HG02523.hp2 NA18943.hp1 NA18954.hp1 NA18967.hp2 NA19003.hp2 NA19007.hp2 NA19054.hp1 NA19056.hp1 NA19079.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0010 a0001c0003t0011 a0001c0003t0004 a0001c0003t0010 a0001c0003t0011	a0001c0003t0004g0004 a0001c0003t0010g0092 a0001c0003t0011g0094 a0001c0003t0004g0004 a0001c0003t0010g0092 a0001c0003t0011g0094	12	444	0.0270	22	c.-10 others(33): Show c.-1003_-1002insAATATATATATGTAAATATATA		GJA9	ENSG00000131233.10	transcript	ENST00000357771.5	protein_coding					752		chr1	TogoVar
GJB2_chr13_20182470_20197938	20197464	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02738.hp1 HG03834.hp2 others(2): Show HG02451.hp1 HG02738.hp1 HG03834.hp2 NA18522.hp1 NA19087.hp2	a0001 a0006 a0009 a0001 a0006 a0009	a0001c0001 a0006c0006 a0009c0013 a0001c0001 a0006c0006 a0009c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0006c0006t0001 a0009c0013t0001	a0001c0001t0001g0002 a0001c0001t0003g0004 a0001c0001t0005g0010 others(2): Show a0001c0001t0001g0002 a0001c0001t0003g0004 a0001c0001t0005g0010 a0006c0006t0001g0013 a0009c0013t0001g0044	5	420	0.0119	22	c.-47 others(33): Show c.-4705_-4704insTTTTTTTTTTTTTTTTTTTTTT		GJB2	ENSG00000165474.8	transcript	ENST00000382848.5	protein_coding					4527		chr13	TogoVar
GJB6_chr13_20216962_20237319	20218592	C C	CTTCTTTC others(15): Show CTTCTTTCTTTCTTTCTTTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0054 a0001c0001t0014g0054	1	460	0.0022	22	c.41 others(33): Show c.4102_*4103insAGAGAAAGAAAGAAAGAAAGAA		GJB6	ENSG00000121742.19	transcript	ENST00000647029.1	protein_coding					3369		chr13	TogoVar
GJB6_chr13_20216962_20237319	20218600	T T	TTTCCTCT others(15): Show TTTCCTCTTCCTTCCTTCCTTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	460	0.0022	22	c.40 others(33): Show c.4094_*4095insGGAAGGAAGGAAGGAAGAGGAA		GJB6	ENSG00000121742.19	transcript	ENST00000647029.1	protein_coding					3361		chr13	TogoVar
GJB6_chr13_20216962_20237319	20218615	C C	CCTTCTTT others(15): Show CCTTCTTTCTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02559.hp1 HG03471.hp1 others(1): Show HG02451.hp2 HG02559.hp1 HG03471.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0075 a0001c0001t0002g0147 others(1): Show a0001c0001t0002g0017 a0001c0001t0002g0075 a0001c0001t0002g0147 a0001c0001t0002g0297	4	460	0.0087	22	c.40 others(33): Show c.4079_*4080insAAGAAAGAAAGAAAGAAAGAAG		GJB6	ENSG00000121742.19	transcript	ENST00000647029.1	protein_coding					3346		chr13	TogoVar
GK5_chr3_142152527_142230585	142159847	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02572.hp2 HG02809.hp2 HG02572.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0039 a0001c0002t0034 a0001c0001t0039 a0001c0002t0034	a0001c0001t0039g0115 a0001c0002t0034g0044 a0001c0001t0039g0115 a0001c0002t0034g0044	2	272	0.0074	22	c.57 others(33): Show c.5774_*5775insAAAAAAAAAAAAAAAAAAAAAA		GK5	ENSG00000175066.16	transcript	ENST00000392993.7	protein_coding	16/16				5774		chr3	TogoVar
GK5_chr3_142152527_142230585	142159853	C C	CTCTTTTT others(15): Show CTCTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02083.hp2 HG06807.hp1 HG02083.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0084 a0001c0001t0081 a0001c0001t0084	a0001c0001t0081g0065 a0001c0001t0084g0093 a0001c0001t0081g0065 a0001c0001t0084g0093	2	272	0.0074	22	c.57 others(33): Show c.5768_*5769insAAAAAAAAAAAAAAAAAAAAGA		GK5	ENSG00000175066.16	transcript	ENST00000392993.7	protein_coding	16/16				5768		chr3	TogoVar
GK5_chr3_142152527_142230585	142159853	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0073 a0001c0001t0080g0073	1	272	0.0037	22	c.57 others(33): Show c.5768_*5769insAAAAAAAAAAAAAAAAAAAAAA		GK5	ENSG00000175066.16	transcript	ENST00000392993.7	protein_coding	16/16				5768		chr3	TogoVar
GKAP1_chr9_83734425_83822769	83779528	T T	TATGTGTA others(15): Show TATGTGTATGTGTACACATACAC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0319 a0001c0001t0002g0319	1	336	0.0030	22	c.585 others(37): Show c.585+853_585+854insGTGTATGTGTACACATACACAT		GKAP1	ENSG00000165113.13	transcript	ENST00000376371.7	protein_coding	7/12						chr9	TogoVar
GKAP1_chr9_83734425_83822769	83779529	A A	ATATGTGT others(15): Show ATATGTGTATATATATACACGTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	336	0.0030	22	c.585 others(37): Show c.585+831_585+852dupCACGTGTATATATATACACATA		GKAP1	ENSG00000165113.13	transcript	ENST00000376371.7	protein_coding	7/12						chr9	TogoVar
GKN1_chr2_68969636_68985976	68974155	T T	TGAGTTGT others(15): Show TGAGTTGTCAGAAACATGGTTAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	464	0.0022	22	c.-52 others(31): Show c.-523_-522insGAGTTGTCAGAAACATGGTTAG		GKN1	ENSG00000169605.7	transcript	ENST00000377938.4	protein_coding					480		chr2	TogoVar
GK_chrX_30648423_30736462	30704128	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03834.hp1 NA18906.hp2 HG01884.hp2 HG03834.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0002g0168 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0002g0168	3	286	0.0105	22	c.851 others(39): Show c.851+3244_851+3245insATATATATATATATATATATAT		GK	ENSG00000198814.14	transcript	ENST00000427190.6	protein_coding	11/20					INFO_REALIGN_3_PRIME	chrX	TogoVar
GLA_chrX_101392803_101412925	101407461	C C	CGAGAGAG others(15): Show CGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp2 HG02559.hp1 others(1): Show HG01884.hp2 HG02109.hp2 HG02559.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0023 a0001c0001t0002g0039 a0001c0001t0002g0040	4	318	0.0126	22	c.194 others(37): Show c.194+248_194+249insTCTCTCTCTCTCTCTCTCTCTC		GLA	ENSG00000102393.15	transcript	ENST00000218516.4	protein_coding	1/6						chrX	TogoVar
GLB1L_chr2_219231598_219250444	219241434	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	410	0.0024	22	c.451 others(39): Show c.451+1079_451+1080insTATATATATATATATATATATA		GLB1L	ENSG00000163521.16	transcript	ENST00000295759.12	protein_coding	5/16						chr2	TogoVar
GLB1L_chr2_219231598_219250444	219241465	T T	TATATATA others(15): Show TATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01346.hp1 HG00741.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0154 a0001c0001t0001g0155	2	410	0.0049	22	c.451 others(39): Show c.451+1048_451+1049insGTGTATATATATATATATATAT		GLB1L	ENSG00000163521.16	transcript	ENST00000295759.12	protein_coding	5/16						chr2	TogoVar
GLB1_chr3_32991617_33102146	33031640	A A	AAAAAAAA others(15): Show AAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	394	0.0025	22	c.106 others(41): Show c.1069-7316_1069-7315insATATATATATATATTTTTTTTT		GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	10/15						chr3	TogoVar
GLCCI1_chr7_7963796_8094080	7966733	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 NA18971.hp1 HG03516.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0067 a0001c0001t0001 a0001c0001t0067	a0001c0001t0001g0341 a0001c0001t0067g0367 a0001c0001t0001g0341 a0001c0001t0067g0367	2	416	0.0048	22	c.-26 others(33): Show c.-2618_-2617insTTTTTTTTTTTTTTTTTTTTTT		GLCCI1	ENSG00000106415.13	transcript	ENST00000223145.10	protein_coding					2062		chr7	TogoVar
GLCCI1_chr7_7963796_8094080	7976479	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0198 a0001c0001t0012g0198	1	416	0.0024	22	c.457 others(39): Show c.457+6691_457+6692insAAAAAAAAAAAAAAAAAAAAAA		GLCCI1	ENSG00000106415.13	transcript	ENST00000223145.10	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr7	TogoVar
GLCCI1_chr7_7963796_8094080	8023588	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03492.hp2 HG02738.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0037 a0001c0001t0008 a0001c0001t0037	a0001c0001t0008g0262 a0001c0001t0037g0292 a0001c0001t0008g0262 a0001c0001t0037g0292	2	416	0.0048	22	c.696 others(39): Show c.696+1026_696+1047dupTTTTTTTTTTTTTTTTTTTTTT		GLCCI1	ENSG00000106415.13	transcript	ENST00000223145.10	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr7	TogoVar
GLDC_chr9_6527467_6650729	6639668	A A	AAAATATA others(15): Show AAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0020 a0001c0002t0020g0020	1	342	0.0029	22	c.334 others(39): Show c.334+4945_334+4946insATATATATATATATATATATTT		GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding	2/24						chr9	TogoVar
GLDC_chr9_6527467_6650729	6639668	A A	AAAGTATA others(15): Show AAAGTATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01070.hp1 HG01071.hp2 others(23): Show HG00642.hp1 HG01070.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp1 HG01167.hp2 HG01169.hp1 HG01261.hp1 HG01516.hp2 HG01934.hp2 HG01975.hp1 HG01978.hp1 HG02109.hp2 HG02523.hp1 HG02559.hp1 HG03041.hp1 HG03130.hp1 HG03516.hp1 NA18522.hp1 NA18939.hp2 NA18950.hp1 NA18999.hp2 NA19063.hp2 NA19070.hp1 NA19084.hp1 NA19086.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0004 a0001c0005 others(4): Show a0001c0001 a0001c0004 a0001c0005 a0001c0013 a0001c0020 a0002c0006 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0004t0001 a0001c0005t0012 a0001c0013t0014 a0001c0020t0001 a0002c0006t0013 a0002c0006t0026 a0004c0008t0002	a0001c0001t0001g0002 a0001c0001t0001g0170 a0001c0001t0001g0175 others(22): Show a0001c0001t0001g0002 a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0226 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0216 a0001c0001t0003g0162 a0001c0001t0003g0215 a0001c0001t0006g0151 a0001c0001t0009g0174 a0001c0004t0001g0305 a0001c0005t0012g0164 a0001c0013t0014g0339 a0001c0020t0001g0006 a0002c0006t0013g0337 a0002c0006t0013g0338 a0002c0006t0026g0340 a0004c0008t0002g0189	26	342	0.0760	22	c.334 others(39): Show c.334+4945_334+4946insATATATATATATATATATACTT		GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding	2/24						chr9	TogoVar
GLDC_chr9_6527467_6650729	6639669	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0004 a0002c0010t0004	a0002c0010t0004g0010 a0002c0010t0004g0010	1	342	0.0029	22	c.334 others(39): Show c.334+4944_334+4945insTATATATATATATATATATATA		GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding	2/24						chr9	TogoVar
GLDC_chr9_6527467_6650729	6644029	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0006 a0001c0028t0006	a0001c0028t0006g0232 a0001c0028t0006g0232	1	342	0.0029	22	c.334 others(37): Show c.334+584_334+585insTTTTTTTTTTTTTTTTTTTTTT		GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding	2/24						chr9	TogoVar
GLG1_chr16_74442440_74612114	74479051	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG04184.hp1 HG00735.hp1 HG04184.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0016 a0001c0004t0001 a0001c0003t0016 a0001c0004t0001	a0001c0003t0016g0038 a0001c0004t0001g0204 a0001c0003t0016g0038 a0001c0004t0001g0204	2	342	0.0059	22	c.182 others(41): Show c.1827+1168_1827+1189dupTTTTTTTTTTTTTTTTTTTTTT		GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	11/25						chr16	TogoVar
GLG1_chr16_74442440_74612114	74498448	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0197 a0001c0004t0001g0197	1	342	0.0029	22	c.775 others(39): Show c.775-1805_775-1804insTATATATATATATATATATATA		GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	4/25						chr16	TogoVar
GLG1_chr16_74442440_74612114	74540014	A A	ATATATAT others(15): Show ATATATATATATTATATATATTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0221 a0001c0003t0008g0221	1	342	0.0029	22	c.439 others(39): Show c.439-7883_439-7862dupAAATATATATAATATATATATA		GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25						chr16	TogoVar
GLG1_chr16_74442440_74612114	74574883	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0255 a0001c0001t0002g0255	1	342	0.0029	22	c.438 others(41): Show c.438+31752_438+31773dupTTTTTTTTTTTTTTTTTTTTTT		GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25						chr16	TogoVar
GLI2_chr2_120730868_120997653	120841848	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02622.hp2 HG03579.hp2 HG00140.hp2 HG02622.hp2 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0002c0001 a0001c0007 a0002c0001	a0001c0007t0007 a0002c0001t0018 a0002c0001t0038 a0001c0007t0007 a0002c0001t0018 a0002c0001t0038	a0001c0007t0007g0153 a0002c0001t0018g0110 a0002c0001t0038g0148 a0001c0007t0007g0153 a0002c0001t0018g0110 a0002c0001t0038g0148	3	160	0.0188	22	c.148 others(41): Show c.148+44400_148+44421dupTGTGTGTGTGTGTGTGTGTGTG		GLI2	ENSG00000074047.22	transcript	ENST00000361492.9	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr2	TogoVar
GLI2_chr2_120730868_120997653	120945957	T T	TCACACAC others(15): Show TCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01943.hp1 HG02027.hp2 others(1): Show HG01515.hp2 HG01943.hp1 HG02027.hp2 HG02602.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0005 a0002c0001t0004 a0002c0001t0014 others(1): Show a0001c0002t0005 a0002c0001t0004 a0002c0001t0014 a0002c0001t0034	a0001c0002t0005g0121 a0002c0001t0004g0075 a0002c0001t0014g0119 others(1): Show a0001c0002t0005g0121 a0002c0001t0004g0075 a0002c0001t0014g0119 a0002c0001t0034g0029	4	160	0.0250	22	c.255 others(39): Show c.255-5273_255-5252dupCACACACACACACACACACACA		GLI2	ENSG00000074047.22	transcript	ENST00000361492.9	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr2	TogoVar
GLI3_chr7_41955949_42242209	42182660	A A	ATATATAT others(15): Show ATATATATATATATATACATGTG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0032 a0003c0003t0032	a0003c0003t0032g0017 a0003c0003t0032g0017	1	158	0.0063	22	c.125 others(41): Show c.125-34193_125-34192insCACATGTATATATATATATATA		GLI3	ENSG00000106571.15	transcript	ENST00000395925.8	protein_coding	2/14						chr7	TogoVar
GLI3_chr7_41955949_42242209	42182662	A A	ATATATAT others(15): Show ATATATATATATATACATGTGTG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0152 a0001c0001t0049g0152	1	158	0.0063	22	c.125 others(41): Show c.125-34195_125-34194insCACACATGTATATATATATATA		GLI3	ENSG00000106571.15	transcript	ENST00000395925.8	protein_coding	2/14						chr7	TogoVar
GLIPR2_chr9_36131733_36168906	36134714	A A	AACACACA others(15): Show AACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG01109.hp1 HG03017.hp1 others(7): Show HG00280.hp1 HG01109.hp1 HG03017.hp1 HG03225.hp2 HG03704.hp1 HG04184.hp1 NA18953.hp1 NA18960.hp2 NA18977.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0011 a0001c0001t0001g0030 a0001c0001t0001g0274 others(6): Show a0001c0001t0001g0011 a0001c0001t0001g0030 a0001c0001t0001g0274 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0002g0283	10	420	0.0238	22	c.-20 others(33): Show c.-2065_-2064insACACACACACACACACACACAC		GLIPR2	ENSG00000122694.16	transcript	ENST00000377960.9	protein_coding					2018		chr9	TogoVar
GLIS1_chr1_53501239_53744164	53709407	T T	TATACATA others(15): Show TATACATATATACATATATATAC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG04228.hp2 NA20752.hp1 HG01081.hp1 HG04228.hp2 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0003c0003t0001 a0001c0001t0001 a0001c0001t0002 a0003c0003t0001	a0001c0001t0001g0210 a0001c0001t0002g0117 a0003c0003t0001g0086 a0001c0001t0001g0210 a0001c0001t0002g0117 a0003c0003t0001g0086	3	236	0.0127	22	c.259 others(41): Show c.259+28398_259+28399insGTATATATATGTATATATGTAT		GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	2/10						chr1	TogoVar
GLIS3_chr9_3819127_4305068	3860272	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0106 a0001c0001t0003g0106	1	188	0.0053	22	c.229 others(41): Show c.2298-4110_2298-4089dupTTTTTTTTTTTTTTTTTTTTTT		GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10						chr9	TogoVar
GLIS3_chr9_3819127_4305068	3896670	T T	TAATTAAA others(15): Show TAATTAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02451.hp2 HG02559.hp1 others(2): Show HG01192.hp2 HG02451.hp2 HG02559.hp1 HG03579.hp1 NA18522.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0002c0002 a0003c0025 others(2): Show a0001c0001 a0002c0002 a0003c0025 a0005c0005 a0006c0008	a0001c0001t0018 a0002c0002t0024 a0003c0025t0051 others(2): Show a0001c0001t0018 a0002c0002t0024 a0003c0025t0051 a0005c0005t0020 a0006c0008t0015	a0001c0001t0018g0072 a0002c0002t0024g0075 a0003c0025t0051g0037 others(2): Show a0001c0001t0018g0072 a0002c0002t0024g0075 a0003c0025t0051g0037 a0005c0005t0020g0082 a0006c0008t0015g0062	5	188	0.0266	22	c.212 others(41): Show c.2128+2020_2128+2021insTTTTTTTTTTTTTTTTTTAATT		GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	7/10						chr9	TogoVar
GLIS3_chr9_3819127_4305068	3953795	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0011 a0011	a0011c0017 a0011c0017	a0011c0017t0071 a0011c0017t0071	a0011c0017t0071g0174 a0011c0017t0071g0174	1	188	0.0053	22	c.171 others(43): Show c.1711-16607_1711-16606insTATATATAGAGAGAGAGAGAGA		GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	4/10						chr9	TogoVar
GLIS3_chr9_3819127_4305068	3991683	A A	AATTTTTT others(15): Show AATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03669.hp2 NA18961.hp2 HG03669.hp2 NA18961.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0001 a0001c0001t0005 a0002c0002t0001	a0001c0001t0005g0170 a0002c0002t0001g0105 a0001c0001t0005g0170 a0002c0002t0001g0105	2	188	0.0106	22	c.171 others(43): Show c.1711-54495_1711-54494insAAAAAAAAAAAAAAAAAAAAAT		GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	4/10						chr9	TogoVar
GLIS3_chr9_3819127_4305068	4053705	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03098.hp1 HG02258.hp2 HG03098.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0007c0007 a0002c0002 a0007c0007	a0002c0002t0004 a0007c0007t0011 a0002c0002t0004 a0007c0007t0011	a0002c0002t0004g0040 a0007c0007t0011g0041 a0002c0002t0004g0040 a0007c0007t0011g0041	2	188	0.0106	22	c.171 others(43): Show c.1710+64062_1710+64063insTTTTTTTTTTTTTTTTTTTTTT		GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	4/10						chr9	TogoVar
GLIS3_chr9_3819127_4305068	4059829	T T	TGTGTGTG others(15): Show TGTGTGTGTGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0181 a0001c0001t0003g0181	1	188	0.0053	22	c.171 others(43): Show c.1710+57938_1710+57939insTCTCTCTCTCTCTCACACACAC		GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	4/10						chr9	TogoVar
GLIS3_chr9_3819127_4305068	4059829	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGAGAGA	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0125 a0001c0001t0028g0125	1	188	0.0053	22	c.171 others(43): Show c.1710+57938_1710+57939insTCTCTCACACACACACACACAC		GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	4/10						chr9	TogoVar
GLIS3_chr9_3819127_4305068	4059829	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGTGAGA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02083.hp2 NA19062.hp2 HG01071.hp1 HG02083.hp2 NA19062.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0010 a0002c0002 a0001c0001 a0001c0010 a0002c0002	a0001c0001t0028 a0001c0010t0067 a0002c0002t0001 a0001c0001t0028 a0001c0010t0067 a0002c0002t0001	a0001c0001t0028g0161 a0001c0010t0067g0108 a0002c0002t0001g0096 a0001c0001t0028g0161 a0001c0010t0067g0108 a0002c0002t0001g0096	3	188	0.0160	22	c.171 others(43): Show c.1710+57938_1710+57939insTCTCACACACACACACACACAC		GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	4/10						chr9	TogoVar
GLIS3_chr9_3819127_4305068	4059829	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp1 HG01192.hp1 others(4): Show HG00735.hp1 HG00741.hp1 HG01192.hp1 HG02300.hp2 HG02735.hp2 HG03834.hp1 NA18971.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0012 a0002c0002 a0001c0001 a0001c0012 a0002c0002	a0001c0001t0002 a0001c0001t0027 a0001c0001t0038 others(4): Show a0001c0001t0002 a0001c0001t0027 a0001c0001t0038 a0001c0001t0050 a0001c0001t0063 a0001c0012t0001 a0002c0002t0065	a0001c0001t0002g0156 a0001c0001t0027g0159 a0001c0001t0038g0012 others(4): Show a0001c0001t0002g0156 a0001c0001t0027g0159 a0001c0001t0038g0012 a0001c0001t0050g0032 a0001c0001t0063g0143 a0001c0012t0001g0115 a0002c0002t0065g0152	7	188	0.0372	22	c.171 others(43): Show c.1710+57938_1710+57939insTCACACACACACACACACACAC		GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	4/10						chr9	TogoVar
GLIS3_chr9_3819127_4305068	4084256	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01884.hp2 HG00738.hp1 HG01884.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0013c0011 a0001c0001 a0013c0011	a0001c0001t0021 a0013c0011t0056 a0001c0001t0021 a0013c0011t0056	a0001c0001t0021g0057 a0013c0011t0056g0034 a0001c0001t0021g0057 a0013c0011t0056g0034	2	188	0.0106	22	c.171 others(43): Show c.1710+33490_1710+33511dupGTGTGTGTGTGTGTGTGTGTGT		GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	4/10						chr9	TogoVar
GLMP_chr1_156287688_156300679	156296605	T T	TAGAGAGA others(15): Show TAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	22	c.-96 others(31): Show c.-961_-960insCTCTCTCTCTCTCTCTCTCTCT		GLMP	ENSG00000198715.13	transcript	ENST00000362007.6	protein_coding					927		chr1	TogoVar
GLMP_chr1_156287688_156300679	156296607	T T	TATAGAGA others(15): Show TATAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG03490.hp1 NA18947.hp2 HG01952.hp1 HG03490.hp1 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	396	0.0076	22	c.-96 others(31): Show c.-963_-962insCTCTCTCTCTCTCTCTCTCTAT		GLMP	ENSG00000198715.13	transcript	ENST00000362007.6	protein_coding					929		chr1	TogoVar
GLMP_chr1_156287688_156300679	156296607	T T	TATATAGA others(15): Show TATATAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 NA18950.hp2 NA19005.hp1 HG00642.hp2 NA18950.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	396	0.0076	22	c.-96 others(31): Show c.-963_-962insCTCTCTCTCTCTCTCTCTATAT		GLMP	ENSG00000198715.13	transcript	ENST00000362007.6	protein_coding					929		chr1	TogoVar

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