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
GLB1_chr3_32991617_33102146	33074385	G G	GAAGAAAG others(21): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA18975.hp1 NA19055.hp2 others(1): Show HG03516.hp2 NA18975.hp1 NA19055.hp2 NA19082.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0002 a0001c0005 a0002c0002	a0001c0005t0001 a0002c0002t0001 a0002c0002t0002 a0001c0005t0001 a0002c0002t0001 a0002c0002t0002	a0001c0005t0001g0253 a0002c0002t0001g0256 a0002c0002t0001g0336 others(1): Show a0001c0005t0001g0253 a0002c0002t0001g0256 a0002c0002t0001g0336 a0002c0002t0002g0384	4	394	0.0102	28	c.76- others(43): Show c.76-1673_76-1672insTCTTTCTTTCTTTCTTTCTTTCTTTCTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33074389	G G	GAAGAAAG others(21): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00733.hp2 HG01515.hp1 others(8): Show HG00099.hp2 HG00733.hp2 HG01515.hp1 HG01516.hp2 HG01934.hp1 HG02004.hp1 HG02056.hp1 HG02083.hp1 HG02486.hp2 HG02735.hp2 HG03017.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0002c0002 a0002c0003 others(2): Show a0001c0001 a0002c0002 a0002c0003 a0004c0007 a0006c0021	a0001c0001t0001 a0002c0002t0001 a0002c0003t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0003t0001 a0004c0007t0001 a0006c0021t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0083 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0083 a0001c0001t0001g0088 a0002c0002t0001g0271 a0002c0002t0001g0281 a0002c0002t0001g0367 a0002c0002t0001g0371 a0002c0003t0001g0339 a0004c0007t0001g0390 a0006c0021t0001g0369	11	394	0.0279	28	c.76- others(43): Show c.76-1677_76-1676insTCTTTCTTTCTTTCTTTCTTTCTTTCTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33074389	G G	GAAGGAAG others(21): Show GAAGGAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01981.hp1 NA18985.hp2 others(2): Show HG01175.hp1 HG01981.hp1 NA18985.hp2 NA19003.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 a0001c0001 a0001c0006 a0002c0002	a0001c0001t0001 a0001c0006t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0006t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0021 a0001c0001t0001g0107 a0001c0006t0001g0106 others(2): Show a0001c0001t0001g0021 a0001c0001t0001g0107 a0001c0006t0001g0106 a0002c0002t0001g0340 a0002c0002t0002g0366	5	394	0.0127	28	c.76- others(43): Show c.76-1677_76-1676insTCTTTCTTTCTTTCTTTCTTTCTTCCTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLCCI1_chr7_7963796_8094080	7966733	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 NA19030.hp1 HG03130.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0358 a0001c0001t0001g0363 a0001c0001t0001g0358 a0001c0001t0001g0363	2	416	0.0048	28	c.-26 others(39): Show c.-2618_-2617insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GLCCI1	ENSG00000106415.13	transcript	ENST00000223145.10	protein_coding		2062		chr7	TogoVar
GLCCI1_chr7_7963796_8094080	8023588	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	416	0.0024	28	c.696 others(45): Show c.696+1020_696+1047dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GLCCI1	ENSG00000106415.13	transcript	ENST00000223145.10	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
GLDC_chr9_6527467_6650729	6639668	A A	AAAGTATA others(21): Show AAAGTATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0001 a0001c0039t0001	a0001c0039t0001g0221 a0001c0039t0001g0221	1	342	0.0029	28	c.334 others(45): Show c.334+4945_334+4946insATATATATATATATATATATATATACTT	GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding	2/24			chr9	TogoVar
GLG1_chr16_74442440_74612114	74479051	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02040.hp1 HG02080.hp1 others(1): Show HG01070.hp2 HG02040.hp1 HG02080.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0224 a0001c0001t0001g0248 others(1): Show a0001c0001t0001g0157 a0001c0001t0001g0224 a0001c0001t0001g0248 a0001c0001t0001g0323	4	342	0.0117	28	c.182 others(47): Show c.1827+1189_1827+1190insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	11/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74498447	A A	AAAGTATA others(21): Show AAAGTATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0127 a0001c0001t0002g0127	1	342	0.0029	28	c.775 others(45): Show c.775-1804_775-1803insATATATATATATATATATATATATACTT	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	4/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74498448	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01975.hp2 NA18945.hp1 others(1): Show HG00639.hp1 HG01975.hp2 NA18945.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0044 a0001c0001t0006 a0001c0001t0044	a0001c0001t0006g0273 a0001c0001t0006g0310 a0001c0001t0006g0312 others(1): Show a0001c0001t0006g0273 a0001c0001t0006g0310 a0001c0001t0006g0312 a0001c0001t0044g0289	4	342	0.0117	28	c.775 others(45): Show c.775-1805_775-1804insTATATATATATATATATATATATATATA	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	4/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74540071	T T	TATATTAT others(21): Show TATATTATATATATATTATATATATTATA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0287 a0001c0001t0006g0287	1	342	0.0029	28	c.439 others(45): Show c.439-7919_439-7918insTATAATATATATAATATATATATAATAT	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74574883	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0018 a0001c0004t0018	a0001c0004t0018g0336 a0001c0004t0018g0336	1	342	0.0029	28	c.438 others(47): Show c.438+31746_438+31773dupTTTTTTTTTTTTTTTTTTTTTTTTTT TT	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25			chr16	TogoVar
GLIS1_chr1_53501239_53744164	53709407	T T	TATACATA others(21): Show TATACATATATACATATATATACATATAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG00621.hp2 others(29): Show HG00438.hp2 HG00544.hp2 HG00621.hp2 HG01167.hp2 HG01168.hp2 HG02056.hp2 HG02080.hp1 HG02083.hp1 HG02148.hp1 HG02155.hp2 HG02523.hp2 HG03209.hp2 NA18951.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18974.hp1 NA18977.hp1 NA18982.hp1 NA18986.hp1 NA18990.hp1 NA19002.hp2 NA19004.hp2 NA19007.hp2 NA19010.hp1 NA19079.hp2 NA19084.hp1 NA19085.hp2 NA19087.hp2 NA19090.hp1 NA19091.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0017 a0030 a0033	a0001c0001 a0001c0005 a0002c0002 others(8): Show a0001c0001 a0001c0005 a0002c0002 a0002c0006 a0002c0018 a0003c0003 a0003c0010 a0005c0013 a0017c0035 a0030c0050 a0033c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0005t0001 a0001c0005t0002 a0001c0005t0004 a0001c0005t0005 a0002c0002t0001 a0002c0006t0001 a0002c0006t0002 a0002c0018t0001 a0002c0018t0002 a0003c0003t0001 a0003c0003t0002 a0003c0010t0002 a0005c0013t0006 a0017c0035t0002 a0030c0050t0001 a0033c0023t0002	a0001c0001t0001g0197 a0001c0001t0002g0077 a0001c0001t0002g0130 others(29): Show a0001c0001t0001g0197 a0001c0001t0002g0077 a0001c0001t0002g0130 a0001c0001t0002g0145 a0001c0001t0002g0171 a0001c0001t0002g0217 a0001c0001t0005g0088 a0001c0005t0001g0129 a0001c0005t0001g0165 a0001c0005t0001g0168 a0001c0005t0001g0216 a0001c0005t0001g0218 a0001c0005t0001g0223 a0001c0005t0002g0106 a0001c0005t0004g0167 a0001c0005t0005g0195 a0002c0002t0001g0170 a0002c0006t0001g0166 a0002c0006t0002g0079 a0002c0018t0001g0146 a0002c0018t0002g0144 a0003c0003t0001g0085 a0003c0003t0001g0123 a0003c0003t0001g0163 a0003c0003t0001g0164 a0003c0003t0001g0215 a0003c0003t0002g0198 a0003c0010t0002g0125 a0005c0013t0006g0011 a0017c0035t0002g0169 a0030c0050t0001g0233 a0033c0023t0002g0090	32	236	0.1356	28	c.259 others(47): Show c.259+28398_259+28399insGTATATGTATATATATGTATATATGT AT	GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	2/10			chr1	TogoVar
GLIS1_chr1_53501239_53744164	53709413	C C	CATATATA others(21): Show CATATATACATATATATACATATACATAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03540.hp2 HG03471.hp2 HG03540.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0011 a0001c0001 a0008c0011	a0001c0001t0002 a0008c0011t0005 a0001c0001t0002 a0008c0011t0005	a0001c0001t0002g0231 a0008c0011t0005g0076 a0001c0001t0002g0231 a0008c0011t0005g0076	2	236	0.0085	28	c.259 others(47): Show c.259+28392_259+28393insATATGTATATGTATATATATGTATAT AT	GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	2/10			chr1	TogoVar
GLIS3_chr9_3819127_4305068	3991683	A A	AATTTTTT others(21): Show AATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0135 a0002c0002t0003g0135	1	188	0.0053	28	c.171 others(49): Show c.1711-54495_1711-54494insAAAAAAAAAAAAAAAAAAAAAAAA AAAT	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	4/10			chr9	TogoVar
GLMP_chr1_156287688_156300679	156296607	T T	TAGAGAGA others(21): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 NA19091.hp2 HG03195.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	396	0.0051	28	c.-96 others(37): Show c.-963_-962insCTCTCTCTCTCTCTCTCTCTCTCTCTCT	GLMP	ENSG00000198715.13	transcript	ENST00000362007.6	protein_coding		929		chr1	TogoVar
GLMP_chr1_156287688_156300679	156296607	T T	TATATATA others(21): Show TATATATATAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	28	c.-96 others(37): Show c.-963_-962insCTCTCTCTCTCTCTCTCTCTATATATAT	GLMP	ENSG00000198715.13	transcript	ENST00000362007.6	protein_coding		929		chr1	TogoVar
GLMP_chr1_156287688_156300679	156296607	T T	TATATATA others(21): Show TATATATATATATAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	28	c.-96 others(37): Show c.-963_-962insCTCTCTCTCTCTCTCTATATATATATAT	GLMP	ENSG00000198715.13	transcript	ENST00000362007.6	protein_coding		929		chr1	TogoVar
GLOD5_chrX_48756747_48778648	48766985	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG01081.hp2 others(10): Show HG00735.hp1 HG00735.hp2 HG01081.hp2 HG01496.hp1 HG02273.hp2 HG02723.hp1 HG02976.hp1 HG03041.hp1 HG03195.hp1 HG03831.hp2 NA18998.hp1 NA19030.hp1 NA19083.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0001c0001t0001 a0001c0001t0002 a0002c0002t0002	a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0030 others(5): Show a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0030 a0001c0001t0001g0079 a0001c0001t0001g0114 a0001c0001t0002g0153 a0002c0002t0002g0146 a0002c0002t0002g0182	13	269	0.0483	28	c.201 others(45): Show c.201+1033_201+1034insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GLOD5	ENSG00000171433.12	transcript	ENST00000303227.11	protein_coding	2/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
GLRA1_chr5_151817513_151929851	151849163	T T	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18991.hp1 NA19091.hp1 HG02074.hp2 NA18991.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0085 a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0085	3	284	0.0106	28	c.912 others(45): Show c.912+2226_912+2227insGAAAGAAAGAAAGAAAGAAAGAAAGAAA	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar
GLRA1_chr5_151817513_151929851	151849249	C C	CCTTCCTT others(21): Show CCTTCCTTCCTTCCTTCCTTCCTTCCCTT	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	284	0.0035	28	c.912 others(45): Show c.912+2140_912+2141insAAGGGAAGGAAGGAAGGAAGGAAGGAAG	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar
GLRA2_chrX_14524536_14736812	14681910	A A	AAAAAAAA others(21): Show AAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02293.hp2 HG02615.hp1 others(3): Show HG01074.hp1 HG02293.hp2 HG02615.hp1 HG02622.hp1 HG02897.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0046 a0001c0003t0026 a0001c0003t0027 others(1): Show a0001c0002t0046 a0001c0003t0026 a0001c0003t0027 a0001c0003t0030	a0001c0002t0046g0179 a0001c0003t0026g0176 a0001c0003t0026g0180 others(3): Show a0001c0002t0046g0179 a0001c0003t0026g0176 a0001c0003t0026g0180 a0001c0003t0027g0178 a0001c0003t0027g0182 a0001c0003t0030g0198	6	232	0.0259	28	c.931 others(45): Show c.931-8799_931-8798insAAAAAAAAAATATATATATATATATATA	GLRA2	ENSG00000101958.14	transcript	ENST00000218075.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
GLRA2_chrX_14524536_14736812	14681910	A A	AAAAAAAA others(21): Show AAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0047 a0001c0002t0047	a0001c0002t0047g0183 a0001c0002t0047g0183	1	232	0.0043	28	c.931 others(45): Show c.931-8799_931-8798insAAAAAAAATATATATATATATATATATA	GLRA2	ENSG00000101958.14	transcript	ENST00000218075.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
GLRA2_chrX_14524536_14736812	14681911	A A	AAAAAAAA others(21): Show AAAAAAAAAAATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0067 a0001c0003t0007g0067	1	232	0.0043	28	c.931 others(45): Show c.931-8799_931-8798insAAAAAAAAAATATATATATATATATATG	GLRA2	ENSG00000101958.14	transcript	ENST00000218075.9	protein_coding	7/8			chrX	TogoVar
GLT1D1_chr12_128848478_128989968	128874059	C C	CCCTCCCT others(21): Show CCCTCCCTCCCTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0155 a0001c0002t0001g0155	1	320	0.0031	28	c.69- others(43): Show c.69-1854_69-1853insCTCCCTCCCTTCTTTCTTTCTTTCTTTC	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128874059	C C	CCCTCCTT others(21): Show CCCTCCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0319 a0001c0002t0001g0319	1	320	0.0031	28	c.69- others(43): Show c.69-1854_69-1853insCTCCTTTCTTTCTTTCTTTCTTTCTTTC	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128879378	T T	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	320	0.0031	28	c.217 others(45): Show c.217+3372_217+3399dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128908323	C C	CTTCTTTC others(21): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02523.hp2 HG03540.hp1 HG02056.hp1 HG02523.hp2 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0002 a0001c0002t0005 a0001c0006t0001 a0001c0002t0002 a0001c0002t0005 a0001c0006t0001	a0001c0002t0002g0265 a0001c0002t0005g0103 a0001c0006t0001g0106 a0001c0002t0002g0265 a0001c0002t0005g0103 a0001c0006t0001g0106	3	320	0.0094	28	c.376 others(45): Show c.376-4078_376-4077insTTTCTTTCTTTCTTTCTTTCTTTCTTTC	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128942735	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0286 a0002c0003t0004g0286	1	320	0.0031	28	c.616 others(45): Show c.616-2588_616-2587insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128986933	G G	GATATATA others(21): Show GATATATACACATATACATGTGCATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0088 a0003c0005t0001g0088	1	320	0.0031	28	c.38 others(39): Show c.3843_*3844insATATATACACATATACATGTGCATATAT	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding		1966		chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104007233	G G	GCTCTCTC others(21): Show GCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA19076.hp1 NA18944.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0201 a0001c0001t0003g0202	2	416	0.0048	28	c.113 others(45): Show c.113-3955_113-3928dupAGAGAGAGAGAGAGAGAGAGAGAGAGAG	GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	4/10			chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104045918	A A	AGAAAGAA others(21): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02257.hp2 HG03540.hp2 others(1): Show HG01496.hp1 HG02257.hp2 HG03540.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 others(1): Show a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0028	4	416	0.0096	28	c.-16 others(47): Show c.-164+3976_-164+3977insCTTCTTTCTTTCTTTCTTTCTTTCTT TC	GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	1/10			chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104045937	A A	AAGAAAAA others(21): Show AAGAAAAAGAAAGAAAGAAAGAAAATAAG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	416	0.0024	28	c.-16 others(47): Show c.-164+3957_-164+3958insCTTATTTTCTTTCTTTCTTTCTTTTT CT	GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	1/10			chr12	TogoVar
GLYAT_chr11_58703757_58736943	58728851	G G	GAAGAAAG others(21): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA19055.hp2 HG03453.hp2 NA19055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0117 a0002c0002t0002g0118	2	364	0.0055	28	c.-16 others(45): Show c.-16+2956_-16+2983dupTCTTTCTTTCTTTCTTTCTTTCTTTCTT	GLYAT	ENSG00000149124.11	transcript	ENST00000344743.8	protein_coding	1/5			chr11	TogoVar
GLYAT_chr11_58703757_58736943	58728889	A A	AGAAAGAA others(21): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	364	0.0028	28	c.-16 others(45): Show c.-16+2945_-16+2946insCTTCTTTCTTTCTTTCTTTCTTTCTTTC	GLYAT	ENSG00000149124.11	transcript	ENST00000344743.8	protein_coding	1/5			chr11	TogoVar
GLYAT_chr11_58703757_58736943	58728889	A A	AGAAAGAA others(21): Show AGAAAGAAAGAAAGAAAGAAAGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA18964.hp2 HG02615.hp1 NA18964.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0105 a0002c0002t0002g0106	2	364	0.0055	28	c.-16 others(45): Show c.-16+2945_-16+2946insCTTCCTTCTTTCTTTCTTTCTTTCTTTC	GLYAT	ENSG00000149124.11	transcript	ENST00000344743.8	protein_coding	1/5			chr11	TogoVar
GLYAT_chr11_58703757_58736943	58728889	A A	AGAAAGAA others(21): Show AGAAAGAAAGAAAGAAAGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0005 a0001c0013t0005	a0001c0013t0005g0181 a0001c0013t0005g0181	1	364	0.0028	28	c.-16 others(45): Show c.-16+2945_-16+2946insCTTCCTTCCTTCTTTCTTTCTTTCTTTC	GLYAT	ENSG00000149124.11	transcript	ENST00000344743.8	protein_coding	1/5			chr11	TogoVar
GLYR1_chr16_4798203_4852288	4804933	C C	CTGTGTGT others(21): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0170 a0001c0001t0025g0170	1	352	0.0028	28	c.27 others(37): Show c.275_*302dupCACACACACACACACACACACACACACA	GLYR1	ENSG00000140632.17	transcript	ENST00000321919.14	protein_coding	16/16	302		chr16	TogoVar
GMCL1_chr2_69824660_69886384	69859742	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	390	0.0026	28	c.107 others(47): Show c.1073-1520_1073-1519insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	GMCL1	ENSG00000087338.5	transcript	ENST00000282570.4	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
GMDS_chr6_1618806_2250605	2013925	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0096	1	166	0.0060	28	c.346 others(47): Show c.346-52987_346-52960dupATATATATATATATATATATATATAT AT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	4/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	2052116	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	166	0.0060	28	c.345 others(47): Show c.345+63654_345+63655insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	4/10			chr6	TogoVar
GMEB1_chr1_28663784_28724353	28687387	C C	CACACACA others(21): Show CACACACACACACACAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	290	0.0035	28	c.129 others(45): Show c.129-2716_129-2715insCACACACACACACAAAAAAAAAAAAAAA	GMEB1	ENSG00000162419.13	transcript	ENST00000373816.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
GMNC_chr3_190847737_190867694	190862358	C C	CAGAGAGA others(21): Show CAGAGAGAGAGAGAGAGAGAGGGCGAGAG	intron_variant intron_variant	MODIFIER	HG03017.hp1 NA19043.hp2 HG03017.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0131 a0001c0001t0021g0132 a0001c0001t0001g0131 a0001c0001t0021g0132	2	488	0.0041	28	c.3+2 others(39): Show c.3+254_3+255insCTCTCGCCCTCTCTCTCTCTCTCTCTCT	GMNC	ENSG00000205835.9	transcript	ENST00000442080.6	protein_coding	1/4			chr3	TogoVar
GNA12_chr7_2723105_2849308	2783649	C C	CATTTATT others(21): Show CATTTATTTATTTATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0152 a0001c0002t0002g0152	1	322	0.0031	28	c.525 others(47): Show c.525+11251_525+11278dupAAATAAATAAATAAATAAATAAATAA AT	GNA12	ENSG00000146535.14	transcript	ENST00000275364.8	protein_coding	2/3			chr7	TogoVar
GNA12_chr7_2723105_2849308	2789132	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0280 a0001c0001t0002g0280	1	322	0.0031	28	c.525 others(45): Show c.525+5795_525+5796insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GNA12	ENSG00000146535.14	transcript	ENST00000275364.8	protein_coding	2/3			chr7	TogoVar
GNA12_chr7_2723105_2849308	2842001	T T	TAGGGAGG others(21): Show TAGGGAGGGAGGGAGGAAGGAAGGAAGAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02717.hp2 HG02895.hp1 others(2): Show HG02486.hp2 HG02717.hp2 HG02895.hp1 HG02897.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0011 a0001c0001t0029 a0001c0001t0009 a0001c0001t0011 a0001c0001t0029	a0001c0001t0009g0274 a0001c0001t0011g0003 a0001c0001t0011g0273 others(1): Show a0001c0001t0009g0274 a0001c0001t0011g0003 a0001c0001t0011g0273 a0001c0001t0029g0182	5	322	0.0155	28	c.309 others(45): Show c.309+1851_309+1852insTTCTTCCTTCCTTCCTCCCTCCCTCCCT	GNA12	ENSG00000146535.14	transcript	ENST00000275364.8	protein_coding	1/3			chr7	TogoVar
GNA12_chr7_2723105_2849308	2842110	G G	GAATGGAA others(21): Show GAATGGAAGGAAGAAAGGAAGAAAAGGAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00423.hp2 others(88): Show HG00140.hp2 HG00423.hp1 HG00423.hp2 HG00609.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG01978.hp2 HG01993.hp2 HG02056.hp2 HG02071.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp2 HG02486.hp1 HG02572.hp1 HG02615.hp1 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02896.hp1 HG02897.hp2 HG03139.hp2 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03669.hp1 HG03688.hp2 HG03834.hp2 HG04204.hp2 HG06807.hp1 NA18612.hp2 NA18939.hp1 NA18943.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18956.hp1 NA18959.hp1 NA18962.hp1 NA18962.hp2 NA18965.hp2 NA18969.hp1 NA18970.hp2 NA18974.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18992.hp2 NA18999.hp1 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19066.hp1 NA19068.hp1 NA19074.hp1 NA19080.hp2 NA19083.hp1 NA19085.hp2 NA19086.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0005 a0001c0001 a0001c0003 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0036 a0001c0003t0001 a0003c0005t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(88): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0173 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0002g0004 a0001c0001t0002g0255 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0006g0189 a0001c0001t0006g0246 a0001c0001t0007g0005 a0001c0001t0007g0006 a0001c0001t0007g0192 a0001c0001t0007g0193 a0001c0001t0007g0194 a0001c0001t0013g0277 a0001c0001t0013g0278 a0001c0001t0013g0279 a0001c0001t0030g0213 a0001c0001t0031g0181 a0001c0001t0032g0254 a0001c0001t0036g0296 a0001c0003t0001g0227 a0001c0003t0001g0235 a0001c0003t0001g0236 a0001c0003t0001g0237 a0001c0003t0001g0238 a0003c0005t0001g0257	91	322	0.2826	28	c.309 others(45): Show c.309+1742_309+1743insTTCCTTTTCTTCCTTTCTTCCTTCCATT	GNA12	ENSG00000146535.14	transcript	ENST00000275364.8	protein_coding	1/3			chr7	TogoVar
GNA15_chr19_3131033_3168749	3140044	A A	AAAAAATC others(21): Show AAAAAATCTATCTATCTATCTATCTATCT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02559.hp1 HG03453.hp1 others(2): Show HG02056.hp2 HG02559.hp1 HG03453.hp1 NA18522.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0324 a0001c0001t0001g0339 a0001c0001t0001g0349 others(2): Show a0001c0001t0001g0324 a0001c0001t0001g0339 a0001c0001t0001g0349 a0001c0001t0009g0320 a0001c0001t0009g0325	5	450	0.0111	28	c.145 others(45): Show c.145+3450_145+3451insAAAATCTATCTATCTATCTATCTATCTA	GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
GNAL_chr18_11684264_11890685	11768978	T T	TTATATAT others(21): Show TTATATATTCTATATTATAATATAGAATA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0135 a0001c0001t0135	a0001c0001t0135g0191 a0001c0001t0135g0191	1	248	0.0040	28	c.624 others(47): Show c.624+15057_624+15084dupGAATATATATATTCTATATTATAATA TA	GNAL	ENSG00000141404.17	transcript	ENST00000334049.11	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GNAL_chr18_11684264_11890685	11788906	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0092 a0001c0001t0092	a0001c0001t0092g0240 a0001c0001t0092g0240	1	248	0.0040	28	c.624 others(47): Show c.624+34962_624+34963insTATATATATATATATATATATATATA TA	GNAL	ENSG00000141404.17	transcript	ENST00000334049.11	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GNAL_chr18_11684264_11890685	11788914	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0171 a0001c0001t0171	a0001c0001t0171g0077 a0001c0001t0171g0077	1	248	0.0040	28	c.624 others(47): Show c.624+34970_624+34971insAAAAAAAAAAAAAATATATATATATA TA	GNAL	ENSG00000141404.17	transcript	ENST00000334049.11	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr18	TogoVar

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