Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
GCM1_chr6_53121961_53153841	53146217	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0283 a0001c0001t0008g0283	1	392	0.0026	31	c.-13 others(48): Show c.-136-450_-136-449insTATATATATATATATATATATATATATA TAT	GCM1	ENSG00000137270.11	transcript	ENST00000259803.8	protein_coding	1/5			chr6	TogoVar
GCN1_chr12_120122202_120199715	120123517	G G	GAATTATC others(24): Show GAATTATCATGCACTAATTGTCCCTGTGACCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0005 a0001c0002t0002g0005	1	310	0.0032	31	c.43 others(42): Show c.4331_*4332insTGGTCACAGGGACAATTAGTGCATGATAATT	GCN1	ENSG00000089154.11	transcript	ENST00000300648.7	protein_coding		3684		chr12	TogoVar
GCNT2_chr6_10516351_10634368	10534139	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	158	0.0063	31	c.925 others(48): Show c.925+4304_925+4305insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10516351_10634368	10569274	C C	CACACACA others(24): Show CACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0156 a0001c0001t0003g0156	1	312	0.0032	31	c.925 others(50): Show c.925+39438_925+39439insACACACACACACACACACACACACAC ACACA	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4			chr6	TogoVar
GCNT2_chr6_10516351_10634368	10582378	T T	TTAATATT others(24): Show TTAATATTTATTATATACTATAATAAATAGTA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02976.hp1 HG03704.hp2 others(1): Show HG02922.hp2 HG02976.hp1 HG03704.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0053 a0001c0001t0001g0098 a0001c0001t0001g0188 others(1): Show a0001c0001t0001g0053 a0001c0001t0001g0098 a0001c0001t0001g0188 a0001c0001t0002g0007	4	314	0.0127	31	c.926 others(50): Show c.926-38949_926-38919dupAAATAGTATAATATTTATTATATACT ATAAT	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10550809_10634368	10582378	T T	TTAATATT others(24): Show TTAATATTTATTATATACTATAATAAATAGTA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02976.hp1 HG03704.hp2 others(1): Show HG02922.hp2 HG02976.hp1 HG03704.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0224 a0001c0001t0001g0281 a0001c0001t0002g0126 others(1): Show a0001c0001t0001g0224 a0001c0001t0001g0281 a0001c0001t0002g0126 a0001c0002t0001g0289	4	334	0.0120	31	c.919 others(50): Show c.919+25060_919+25090dupAAATAGTATAATATTTATTATATACT ATAAT	GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT4_chr5_75020346_75057558	75049749	G G	GACACTTG others(24): Show GACACTTGTTGACACATTAAGTAGAAGGTGCC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0085 a0001c0001t0005g0085	1	380	0.0026	31	c.-14 others(50): Show c.-142-1743_-142-1713dupGGCACCTTCTACTTAATGTGTCAACA AGTGT	GCNT4	ENSG00000176928.7	transcript	ENST00000652361.2	protein_coding	2/3			chr5	TogoVar
GCSH_chr16_81076945_81101395	81080667	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02572.hp2 HG02258.hp2 HG02572.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0015 a0002c0004t0002g0083 a0002c0004t0002g0015 a0002c0004t0002g0083	2	273	0.0073	31	c.21 others(42): Show c.2198_*2199insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GCSH	ENSG00000140905.11	transcript	ENST00000315467.9	protein_coding		1277		chr16	TogoVar
GDF15_chr19_18381158_18394176	18387813	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0041 a0003c0003t0001g0041	1	86	0.0116	31	c.278 others(46): Show c.278-447_278-446insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	GDF15	ENSG00000130513.7	transcript	ENST00000252809.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr19	TogoVar
GDF7_chr2_20662144_20684243	20663249	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0153 a0001c0001t0153	a0001c0001t0153g0009 a0001c0001t0153g0009	1	166	0.0060	31	c.-39 others(42): Show c.-3991_-3990insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GDF7	ENSG00000143869.7	transcript	ENST00000272224.5	protein_coding		3894		chr2	TogoVar
GEMIN2_chr14_39109323_39141973	39123708	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	273	0.0037	31	c.486 others(48): Show c.486+1166_486+1167insATATATATATATATATATATATATATAT TTT	GEMIN2	ENSG00000092208.19	transcript	ENST00000308317.12	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
GEMIN6_chr2_38773210_38790002	38779664	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0076 a0001c0001t0017g0076	1	125	0.0080	31	c.128 others(46): Show c.128+547_128+548insATATATATATATATATATATATATTTTTTT T	GEMIN6	ENSG00000152147.11	transcript	ENST00000281950.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
GEMIN6_chr2_38773210_38790002	38779664	A A	ATATATAT others(24): Show ATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0006 a0001c0001t0008g0006	1	125	0.0080	31	c.128 others(46): Show c.128+547_128+548insATATATATATATATATATATTTTTTTTTTT T	GEMIN6	ENSG00000152147.11	transcript	ENST00000281950.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
GEMIN6_chr2_38773210_38790002	38779664	A A	ATATATAT others(24): Show ATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA19089.hp1 NA18943.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0006 a0001c0001t0008g0006	2	126	0.0159	31	c.128 others(46): Show c.128+547_128+548insATATATATATATATATATTTTTTTTTTTTT T	GEMIN6	ENSG00000152147.11	transcript	ENST00000281950.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
GET3_chr19_12732497_12753323	12745272	T T	TCTGGCCC others(24): Show TCTGGCCCTGTGCCCGGGTAGGAAGGCTCCCC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	284	0.0035	31	c.310 others(44): Show c.310-90_310-60dupGGGTAGGAAGGCTCCCCCTGGCCCTGTGCCC	GET3	ENSG00000198356.12	transcript	ENST00000357332.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
GFOD2_chr16_67669536_67724316	67712262	T T	TCTCCCTC others(24): Show TCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0100 a0001c0001t0004g0100	1	184	0.0054	31	c.-88 others(48): Show c.-88+6870_-88+6900dupGGGGGAGGGGGAGGGGGAGAGGGAGAGG GAG	GFOD2	ENSG00000141098.13	transcript	ENST00000268797.12	protein_coding	1/2			chr16	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0001 a0003c0014t0001	a0003c0014t0001g0292 a0003c0014t0001g0292	1	199	0.0050	31	c.41 others(42): Show c.4105_*4106insATATATATATATTTTTTTTTTTTTTTTTTTT	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3239		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0314 a0001c0003t0001g0314	1	199	0.0050	31	c.41 others(42): Show c.4105_*4106insATATATATATATATTTTTTTTTTTTTTTTTT	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3239		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00621.hp2 HG01123.hp1 HG00140.hp1 HG00621.hp2 HG01123.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0020 a0001c0003 a0002c0020	a0001c0003t0001 a0002c0020t0001 a0001c0003t0001 a0002c0020t0001	a0001c0003t0001g0092 a0001c0003t0001g0288 a0002c0020t0001g0298 a0001c0003t0001g0092 a0001c0003t0001g0288 a0002c0020t0001g0298	3	201	0.0149	31	c.41 others(42): Show c.4105_*4106insATATATATATATATATTTTTTTTTTTTTTTT	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3239		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0001 a0003c0014t0001	a0003c0014t0001g0302 a0003c0014t0001g0302	1	199	0.0050	31	c.41 others(42): Show c.4105_*4106insATATATATATATATATATTTTTTTTTTTTTT	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3239		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 NA19011.hp1 HG06807.hp1 NA19011.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0005 a0001c0003t0001 a0001c0003t0005	a0001c0003t0001g0274 a0001c0003t0005g0378 a0001c0003t0001g0274 a0001c0003t0005g0378	2	200	0.0100	31	c.41 others(42): Show c.4105_*4106insATATATATATATATATATATTTTTTTTTTTT	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3239		chr5	TogoVar
GFRA1_chr10_116051925_116278206	116145148	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0127 a0001c0001t0127	a0001c0001t0127g0132 a0001c0001t0127g0132	1	51	0.0196	31	c.434 others(50): Show c.434-19592_434-19591insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	5/10			chr10	TogoVar
GFRA2_chr8_21685398_21793875	21694092	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0003 a0002c0016t0003	a0002c0016t0003g0260 a0002c0016t0003g0260	1	320	0.0031	31	c.127 others(48): Show c.1272+371_1272+372insTATATATATATATATATATATATATATA TAT	GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	8/8			chr8	TogoVar
GGT1_chr22_24598193_24633996	24605400	T T	TATATAAC others(24): Show TATATAACAATATATAATGTGTATTATATATA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0238 a0001c0001t0006g0238	1	424	0.0024	31	c.-42 others(50): Show c.-429+1879_-429+1880insCAATATATAATGTGTATTATATATAA TATAA	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
GGT1_chr22_24598193_24633996	24605462	A A	AATATAAT others(24): Show AATATAATATTATATAATGTGTATTATATATT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0198 a0002c0002t0001g0198	1	309	0.0032	31	c.-42 others(50): Show c.-429+2028_-429+2058dupTATATAATATTATATAATGTGTATTA TATAT	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
GGT1_chr22_24598193_24633996	24605698	T T	TTAATATT others(24): Show TTAATATTATATAATGTGTATTATATATTATA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03942.hp2 HG03710.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0196 a0001c0001t0001g0069 a0001c0001t0001g0196	2	318	0.0063	31	c.-42 others(50): Show c.-428-2187_-428-2157dupTATATAATGTGTATTATATATTATAT AATAT	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
GGT1_chr22_24598193_24633996	24626236	C C	CCCTCCCA others(24): Show CCCTCCCAAAGTGCTGGGATTACAGGCCTCGG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	424	0.0024	31	c.102 others(50): Show c.1021-1169_1021-1139dupCTCGGCCTCCCAAAGTGCTGGGATTA CAGGC	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
GID8_chr20_62933147_62953475	62945674	A A	ATGACCTT others(24): Show ATGACCTTTTGTCTTTGGGGCGTTCTTCCCCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0039 a0001c0001t0038g0039	1	442	0.0023	31	c.76 others(40): Show c.765_*795dupACCTTTTGTCTTTGGGGCGTTCTTCCCCCTG	GID8	ENSG00000101193.8	transcript	ENST00000266069.5	protein_coding	5/5	796	INFO_REALIGN_3_PRIME	chr20	TogoVar
GINS2_chr16_85671198_85693954	85685670	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0132 a0001c0002t0009g0132	1	163	0.0061	31	c.205 others(48): Show c.205+1789_205+1790insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	GINS2	ENSG00000131153.9	transcript	ENST00000253462.8	protein_coding	2/4			chr16	TogoVar
GJC2_chr1_228144930_228164826	228157117	G G	GGTGGAGG others(24): Show GGTGGAGGGACCCCGACGCCCCTGTCCAGGGT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02451.hp2 HG02572.hp1 others(8): Show HG01167.hp2 HG02451.hp2 HG02572.hp1 HG02630.hp1 HG02723.hp1 HG02886.hp2 HG02895.hp1 HG02965.hp2 HG02970.hp1 HG03471.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0001t0002 a0001c0013t0002 a0001c0001t0001 a0001c0001t0002 a0001c0013t0002	a0001c0001t0001g0068 a0001c0001t0002g0016 a0001c0001t0002g0022 others(2): Show a0001c0001t0001g0068 a0001c0001t0002g0016 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0013t0002g0016	11	382	0.0288	31	c.-19 others(46): Show c.-19-582_-19-552dupCCCCGACGCCCCTGTCCAGGGTGTGGAGGG A	GJC2	ENSG00000198835.4	transcript	ENST00000366714.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr1	TogoVar
GK_chrX_30648423_30736462	30704128	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02559.hp1 HG02109.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0005 a0001c0001t0007	a0001c0001t0005g0101 a0001c0001t0007g0103 a0001c0001t0005g0101 a0001c0001t0007g0103	2	78	0.0256	31	c.851 others(48): Show c.851+3223_851+3224insATATATATATATATATATATATATATAT ATA	GK	ENSG00000198814.14	transcript	ENST00000427190.6	protein_coding	11/20			chrX	TogoVar
GLB1L3_chr11_134271379_134324564	134308322	A A	ACCACCAC others(24): Show ACCACCACCAAATACCACCACCACCACCATGT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG03927.hp1 NA18944.hp1 others(4): Show HG00323.hp2 HG03927.hp1 NA18944.hp1 NA18949.hp2 NA18995.hp2 NA19054.hp1 NA19080.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0003 a0008c0021 a0001c0001 a0001c0003 a0008c0021	a0001c0001t0001 a0001c0003t0001 a0008c0021t0001 a0001c0001t0001 a0001c0003t0001 a0008c0021t0001	a0001c0001t0001g0206 a0001c0003t0001g0004 a0001c0003t0001g0062 others(2): Show a0001c0001t0001g0206 a0001c0003t0001g0004 a0001c0003t0001g0062 a0001c0003t0001g0074 a0008c0021t0001g0235	7	420	0.0167	31	c.961 others(48): Show c.961+1114_961+1115insCCACCACCAAATACCACCACCACCACCA TGT	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19			chr11	TogoVar
GLB1_chr3_32991617_33102146	33043771	G G	GAAAGATA others(24): Show GAAAGATAGATACCTCAGAAAAATACCAAGCA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02451.hp1 HG02486.hp1 others(2): Show HG01934.hp1 HG02451.hp1 HG02486.hp1 HG02630.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0021 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0001g0103	5	204	0.0245	31	c.106 others(50): Show c.1068+2348_1068+2349insTGCTTGGTATTTTTCTGAGGTATCTA TCTTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	10/15			chr3	TogoVar
GLCCI1_chr7_7963796_8094080	7966733	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG02622.hp1 HG03516.hp2 HG00423.hp1 HG02622.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0338 a0001c0001t0001g0357 a0001c0001t0009g0233 a0001c0001t0001g0338 a0001c0001t0001g0357 a0001c0001t0009g0233	3	231	0.0130	31	c.-26 others(42): Show c.-2618_-2617insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GLCCI1	ENSG00000106415.13	transcript	ENST00000223145.10	protein_coding		2062		chr7	TogoVar
GLCCI1_chr7_7963796_8094080	7976479	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0085 a0001c0001t0085	a0001c0001t0085g0195 a0001c0001t0085g0195	1	136	0.0074	31	c.457 others(48): Show c.457+6691_457+6692insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	GLCCI1	ENSG00000106415.13	transcript	ENST00000223145.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
GLDN_chr15_51336655_51413000	51353734	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0049 a0001c0001t0003g0049	1	250	0.0040	31	c.363 others(50): Show c.363+11687_363+11688insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAC	GLDN	ENSG00000186417.15	transcript	ENST00000335449.11	protein_coding	1/9			chr15	TogoVar
GLG1_chr16_74442440_74612114	74498447	A A	AAGTATAT others(24): Show AAGTATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00673.hp1 HG00735.hp2 others(23): Show HG00323.hp2 HG00673.hp1 HG00735.hp2 HG02135.hp1 HG02155.hp2 HG02622.hp1 HG02965.hp1 HG02965.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03492.hp1 HG03579.hp2 HG03669.hp1 NA18942.hp1 NA18943.hp1 NA18952.hp2 NA18954.hp2 NA18964.hp1 NA18967.hp1 NA18970.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0025 a0001c0001t0032 a0001c0001t0037 a0001c0004t0007	a0001c0001t0001g0170 a0001c0001t0001g0180 a0001c0001t0001g0229 others(23): Show a0001c0001t0001g0170 a0001c0001t0001g0180 a0001c0001t0001g0229 a0001c0001t0001g0250 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0002g0105 a0001c0001t0002g0112 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0164 a0001c0001t0002g0174 a0001c0001t0002g0212 a0001c0001t0002g0235 a0001c0001t0002g0291 a0001c0001t0002g0294 a0001c0001t0005g0094 a0001c0001t0005g0114 a0001c0001t0005g0120 a0001c0001t0005g0123 a0001c0001t0005g0295 a0001c0001t0025g0159 a0001c0001t0032g0132 a0001c0001t0037g0320 a0001c0004t0007g0171	26	98	0.2653	31	c.775 others(48): Show c.775-1804_775-1803insATATATATATATATATATATATATATAT ACT	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	4/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74498447	A A	AAGTGTAT others(24): Show AAGTGTATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0068 a0001c0003t0003g0068	1	73	0.0137	31	c.775 others(48): Show c.775-1804_775-1803insATATATATATATATATATATATATATAC ACT	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	4/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74542708	G G	GGAAGGGA others(24): Show GGAAGGGAGGAAGGAAGGAAGGGAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01070.hp2 HG01099.hp2 others(17): Show HG00609.hp1 HG01070.hp2 HG01099.hp2 HG01109.hp1 HG01517.hp2 HG02080.hp1 HG02145.hp2 HG02647.hp2 HG02976.hp1 HG03209.hp2 HG03540.hp2 NA18939.hp2 NA18960.hp2 NA18964.hp1 NA18968.hp2 NA18971.hp2 NA18973.hp2 NA18989.hp2 NA18993.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0027 a0001c0004t0001 a0001c0004t0018 a0001c0004t0028	a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0224 others(17): Show a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0250 a0001c0001t0001g0268 a0001c0001t0001g0318 a0001c0001t0001g0324 a0001c0001t0002g0097 a0001c0001t0002g0141 a0001c0001t0007g0262 a0001c0001t0027g0243 a0001c0004t0001g0182 a0001c0004t0001g0196 a0001c0004t0001g0207 a0001c0004t0001g0306 a0001c0004t0018g0336 a0001c0004t0028g0185	20	140	0.1429	31	c.439 others(50): Show c.439-10556_439-10555insTTCCTTCCTCCCTTCCTTCCTTCCTC CCTTC	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25			chr16	TogoVar
GLO1_chr6_38670925_38708145	38705348	C C	CTTTCTTT others(24): Show CTTTCTTTCTTTCTTTCTTTCTTCTTTATTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0085 a0001c0001t0009g0085	1	404	0.0025	31	c.-22 others(42): Show c.-2295_-2294insCAAATAAAGAAGAAAGAAAGAAAGAAAGAAA	GLO1	ENSG00000124767.7	transcript	ENST00000373365.5	protein_coding		2204		chr6	TogoVar
GLOD5_chrX_48756747_48778648	48766985	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00621.hp1 HG01261.hp1 others(5): Show HG00099.hp2 HG00621.hp1 HG01261.hp1 HG02273.hp1 HG02738.hp1 NA18940.hp1 NA18954.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0008 a0001c0001t0001g0054 a0001c0001t0001g0064 others(1): Show a0001c0001t0001g0008 a0001c0001t0001g0054 a0001c0001t0001g0064 a0001c0001t0002g0149	8	17	0.4706	31	c.201 others(48): Show c.201+1033_201+1034insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	GLOD5	ENSG00000171433.12	transcript	ENST00000303227.11	protein_coding	2/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
GLRA1_chr5_151817513_151929851	151849456	C C	CTTTCCTT others(24): Show CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01975.hp2 HG03195.hp1 HG01256.hp2 HG01975.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0041 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0001g0041 a0001c0001t0002g0225 a0001c0001t0002g0226	3	255	0.0118	31	c.912 others(48): Show c.912+1933_912+1934insAGGAAAGGAAAGGAAAGGAAAGGAAAGG AAA	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar
GLRA2_chrX_14524536_14736812	14681906	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0049 a0001c0001t0003g0222 a0001c0001t0003g0049 a0001c0001t0003g0222	2	205	0.0098	31	c.931 others(48): Show c.931-8804_931-8803insTATATATATATATATATATATATATATA TAT	GLRA2	ENSG00000101958.14	transcript	ENST00000218075.9	protein_coding	7/8			chrX	TogoVar
GLRA2_chrX_14524536_14736812	14681908	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0051	1	176	0.0057	31	c.931 others(48): Show c.931-8802_931-8801insTATATATATATATATATATATATATATA TAT	GLRA2	ENSG00000101958.14	transcript	ENST00000218075.9	protein_coding	7/8			chrX	TogoVar
GLRA2_chrX_14524536_14736812	14681910	A A	AAAAAAAA others(24): Show AAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01433.hp1 HG01516.hp1 others(3): Show HG01123.hp1 HG01433.hp1 HG01516.hp1 HG02015.hp1 HG02602.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0025 a0001c0002t0002g0082 a0001c0002t0002g0109 others(3): Show a0001c0002t0001g0025 a0001c0002t0002g0082 a0001c0002t0002g0109 a0001c0002t0002g0211 a0001c0002t0002g0212 a0001c0002t0002g0216	6	112	0.0536	31	c.931 others(48): Show c.931-8799_931-8798insAAAAAAATATATATATATATATATATAT ATA	GLRA2	ENSG00000101958.14	transcript	ENST00000218075.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
GLRA2_chrX_14524536_14736812	14681910	A A	AAAAAAAT others(24): Show AAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01256.hp1 HG01261.hp1 others(2): Show HG00280.hp1 HG01256.hp1 HG01261.hp1 HG02257.hp2 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0053 a0001c0002t0002g0060 a0001c0002t0002g0205 others(2): Show a0001c0002t0002g0053 a0001c0002t0002g0060 a0001c0002t0002g0205 a0001c0002t0002g0210 a0001c0002t0002g0215	5	111	0.0450	31	c.931 others(48): Show c.931-8799_931-8798insAAAAATATATATATATATATATATATAT ATA	GLRA2	ENSG00000101958.14	transcript	ENST00000218075.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
GLT1D1_chr12_128848478_128989968	128956171	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01069.hp1 HG01516.hp2 others(7): Show HG00323.hp2 HG01069.hp1 HG01516.hp2 HG02071.hp2 HG02129.hp1 HG03490.hp2 HG03927.hp1 NA18941.hp2 NA18973.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0032 a0001c0001t0001g0098 a0001c0001t0001g0101 others(7): Show a0001c0001t0001g0032 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0183 a0001c0001t0001g0221 a0001c0001t0001g0226 a0001c0001t0001g0275 a0001c0001t0001g0301 a0001c0002t0001g0047 a0001c0002t0001g0123	10	173	0.0578	31	c.781 others(48): Show c.781-1373_781-1372insAAAAAAAAAAAAAAAAAAAAAAAAAAAG AGA	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLTPD2_chr17_4783964_4795589	4794036	G G	GTTGTCTT others(24): Show GTTGTCTTTTTTCATCTGTTACTCGGTTTCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	458	0.0022	31	c.37 others(42): Show c.3740_*3741insTTGTCTTTTTTCATCTGTTACTCGGTTTCGC	GLTPD2	ENSG00000182327.8	transcript	ENST00000331264.8	protein_coding		3448		chr17	TogoVar
GLYATL2_chr11_58829065_58849704	58841186	C C	CCTAGAAA others(24): Show CCTAGAAAACTCAGTAAATATGACATCTATGT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0087 a0002c0002t0002g0087	1	378	0.0026	31	c.-40 others(48): Show c.-40-1565_-40-1535dupACATAGATGTCATATTTACTGAGTTTTC TAG	GLYATL2	ENSG00000156689.7	transcript	ENST00000287275.6	protein_coding	1/5			chr11	TogoVar
GLYAT_chr11_58703757_58736943	58728887	A A	AAGAGAAA others(24): Show AAGAGAAAGATAAGAAAGAAGAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	361	0.0028	31	c.-16 others(48): Show c.-16+2947_-16+2948insCTTTCTTTCTTCTTCTTTCTTATCTTTC TCT	GLYAT	ENSG00000149124.11	transcript	ENST00000344743.8	protein_coding	1/5			chr11	TogoVar

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