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
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 NA18966.hp1 HG02886.hp1 NA18966.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0014 a0001c0003t0001 a0001c0003t0014	a0001c0003t0001g0312 a0001c0003t0014g0336 a0001c0003t0001g0312 a0001c0003t0014g0336	2	200	0.0100	40	c.41 others(51): Show c.4105_*4106insATATATATATATATATATATATATATTTTTTTTT TTTTTT	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3239		chr5	TogoVar
GFRA1_chr10_116051925_116278206	116117561	A A	ATGGATGG others(33): Show ATGGATGGATGGATGGATGGGTGGGTGGGTGGGTGGGTGGG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00642.hp2 others(19): Show HG00423.hp1 HG00438.hp2 HG00642.hp2 HG01168.hp1 HG01169.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG02027.hp1 HG02132.hp1 HG03471.hp1 HG03688.hp2 HG04115.hp2 NA18950.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18975.hp2 NA18989.hp2 NA19065.hp2 NA19070.hp1 NA19087.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0013 a0002c0003 others(1): Show a0001c0001 a0001c0013 a0002c0003 a0006c0011	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(15): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0013 a0001c0001t0017 a0001c0001t0094 a0001c0001t0097 a0001c0001t0102 a0001c0001t0111 a0001c0001t0120 a0001c0001t0124 a0001c0001t0125 a0001c0001t0132 a0001c0013t0005 a0002c0003t0004 a0002c0003t0011 a0002c0003t0106 a0006c0011t0004	a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0091 others(19): Show a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0091 a0001c0001t0004g0079 a0001c0001t0008g0020 a0001c0001t0008g0035 a0001c0001t0013g0143 a0001c0001t0013g0194 a0001c0001t0017g0211 a0001c0001t0094g0122 a0001c0001t0097g0120 a0001c0001t0102g0104 a0001c0001t0111g0114 a0001c0001t0120g0096 a0001c0001t0124g0115 a0001c0001t0125g0105 a0001c0001t0132g0094 a0001c0013t0005g0062 a0002c0003t0004g0082 a0002c0003t0011g0178 a0002c0003t0106g0072 a0006c0011t0004g0127	22	203	0.1084	40	c.770 others(57): Show c.770+7659_770+7660insCCCACCCACCCACCCACCCACCCATCCA TCCATCCATCCA	GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	6/10			chr10	TogoVar
GFRA2_chr8_21685398_21793875	21694071	T T	TATTATAT others(33): Show TATTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0002 a0002c0017t0002	a0002c0017t0002g0048 a0002c0017t0002g0048	1	306	0.0033	40	c.127 others(57): Show c.1272+392_1272+393insTATATATATATATATATATATATATATA TATATATATAAT	GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	8/8			chr8	TogoVar
GFRAL_chr6_55322469_55407493	55395175	A A	AAAAAATA others(33): Show AAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0233 a0003c0003t0002g0233	1	154	0.0065	40	c.953 others(57): Show c.953-4004_953-4003insAAAATATATATATATATATATATATATA TATATATATATA	GFRAL	ENSG00000187871.2	transcript	ENST00000340465.2	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
GGT1_chr22_24598193_24633996	24605035	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0263 a0001c0001t0008g0263	1	370	0.0027	40	c.-42 others(59): Show c.-429+1509_-429+1510insTATATATATATATATATATATATATA TATATATATATAAA	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
GGT5_chr22_24214660_24250082	24227221	A A	ATTACAGG others(33): Show ATTACAGGCGTAAGCCATCATGCCCCGCCTTTTTTGTGTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp1 HG02559.hp2 others(7): Show HG01891.hp1 HG02145.hp1 HG02559.hp2 HG02970.hp2 HG02976.hp2 HG03130.hp2 HG06807.hp2 NA18522.hp1 NA19240.hp2 NA20300.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0013c0019 a0001c0001 a0013c0019	a0001c0001t0001 a0013c0019t0001 a0001c0001t0001 a0013c0019t0001	a0001c0001t0001g0004 a0001c0001t0001g0166 a0001c0001t0001g0167 others(4): Show a0001c0001t0001g0004 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0013c0019t0001g0117	10	418	0.0239	40	c.902 others(55): Show c.902-494_902-455dupAAACACAAAAAAGGCGGGGCATGATGGCTT ACGCCTGTAA	GGT5	ENSG00000099998.19	transcript	ENST00000327365.10	protein_coding	6/11			chr22	TogoVar
GHRHR_chr7_30958953_30984528	30968640	C C	CCCTCCCT others(33): Show CCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0176 a0003c0003t0002g0176	1	363	0.0028	40	c.58- others(53): Show c.58-191_58-190insCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCT	GHRHR	ENSG00000106128.19	transcript	ENST00000326139.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
GHRHR_chr7_30958953_30984528	30968640	C C	CCCTCCCT others(33): Show CCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0171 a0003c0003t0007g0171	1	363	0.0028	40	c.58- others(53): Show c.58-191_58-190insCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCT	GHRHR	ENSG00000106128.19	transcript	ENST00000326139.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
GHRHR_chr7_30958953_30984528	30968640	C C	CCCTCCCT others(33): Show CCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01496.hp1 HG02622.hp2 others(4): Show HG01123.hp1 HG01496.hp1 HG02622.hp2 HG03195.hp1 HG06807.hp2 NA18906.hp2 NA19240.hp2	a0004 a0004	a0004c0005 a0004c0010 a0004c0005 a0004c0010	a0004c0005t0001 a0004c0010t0001 a0004c0005t0001 a0004c0010t0001	a0004c0005t0001g0018 a0004c0005t0001g0059 a0004c0005t0001g0065 others(2): Show a0004c0005t0001g0018 a0004c0005t0001g0059 a0004c0005t0001g0065 a0004c0005t0001g0197 a0004c0010t0001g0207	7	369	0.0190	40	c.58- others(53): Show c.58-191_58-190insCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCT	GHRHR	ENSG00000106128.19	transcript	ENST00000326139.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
GHRHR_chr7_30958953_30984528	30968640	C C	CCCTTCCT others(33): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0183 a0003c0003t0007g0183	1	363	0.0028	40	c.58- others(53): Show c.58-168_58-167insTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCC	GHRHR	ENSG00000106128.19	transcript	ENST00000326139.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
GHR_chr5_42418439_42726878	42474295	G G	GAAAGAAA others(33): Show GAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00673.hp1 HG01257.hp1 others(4): Show HG00423.hp2 HG00673.hp1 HG01257.hp1 HG02015.hp2 NA18940.hp2 NA18995.hp1 NA19007.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0004 a0002c0002 a0003c0003 others(1): Show a0001c0004 a0002c0002 a0003c0003 a0005c0011	a0001c0004t0011 a0001c0004t0012 a0001c0004t0016 others(3): Show a0001c0004t0011 a0001c0004t0012 a0001c0004t0016 a0002c0002t0001 a0003c0003t0003 a0005c0011t0001	a0001c0004t0011g0002 a0001c0004t0012g0010 a0001c0004t0016g0028 others(4): Show a0001c0004t0011g0002 a0001c0004t0012g0010 a0001c0004t0016g0028 a0002c0002t0001g0012 a0003c0003t0003g0008 a0003c0003t0003g0011 a0005c0011t0001g0009	7	18	0.3889	40	c.-12 others(59): Show c.-12+50341_-12+50342insAAGAAAGAAAGAAAGAAAGAGAAAGA AAGAAAGAAAGAAA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42576099	T T	TAAAATAA others(33): Show TAAAATAAAATAAAATAAAATAAAATAAAATAAATAAAATA	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18940.hp1 HG03579.hp2 NA18940.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0003 a0002c0002t0001 a0003c0003t0003	a0002c0002t0001g0088 a0003c0003t0003g0178 a0002c0002t0001g0088 a0003c0003t0003g0178	2	89	0.0225	40	c.70+ others(57): Show c.70+10158_70+10159insATAAAATAAAATAAAATAAAATAAAATA AATAAAATAAAA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42583878	G G	GATATATA others(33): Show GATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0016 a0001c0004t0016	a0001c0004t0016g0023 a0001c0004t0016g0023	1	175	0.0057	40	c.70+ others(57): Show c.70+17953_70+17954insTATATATATATATATATATATATATATA TATATATATATA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GJA10_chr6_89889469_89901120	89898131	T T	TTTCCCTT others(33): Show TTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	377	0.0027	40	c.20 others(51): Show c.2031_*2032insTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCCC	GJA10	ENSG00000135355.4	transcript	ENST00000369352.1	protein_coding		2012		chr6	TogoVar
GKAP1_chr9_83734425_83822769	83779586	C C	CATGTATA others(33): Show CATGTATATGTGTATATATATACACACATATATATACACAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	2	123	0.0163	40	c.585 others(55): Show c.585+795_585+796insATGTGTATATATATGTGTGTATATATATAC ACATATACAT	GKAP1	ENSG00000165113.13	transcript	ENST00000376371.7	protein_coding	7/12			chr9	TogoVar
GKN1_chr2_68969636_68985976	68978271	G G	GGAAAGAA others(33): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0088 a0001c0003t0003g0088	1	220	0.0045	40	c.204 others(55): Show c.204+523_204+524insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGA	GKN1	ENSG00000169605.7	transcript	ENST00000377938.4	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
GKN1_chr2_68969636_68985976	68978271	G G	GGAAGGAA others(33): Show GGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	220	0.0045	40	c.204 others(55): Show c.204+500_204+501insGGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAA	GKN1	ENSG00000169605.7	transcript	ENST00000377938.4	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
GKN1_chr2_68969636_68985976	68978271	G G	GGAAGGAA others(33): Show GGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02135.hp2 HG02280.hp1 others(8): Show HG01884.hp1 HG02135.hp2 HG02280.hp1 HG02630.hp1 NA18948.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18990.hp1 NA19059.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0099 a0001c0001t0001g0010 a0001c0001t0001g0099	11	230	0.0478	40	c.204 others(55): Show c.204+500_204+501insGGAAGGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAA	GKN1	ENSG00000169605.7	transcript	ENST00000377938.4	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
GKN2_chr2_68940232_68957893	68957455	C C	CTTCTTTA others(33): Show CTTCTTTACTTGTAAATTAGATTGTTCTATTCCTATTTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	464	0.0022	40	c.-45 others(51): Show c.-4595_-4594insCATAAATAGGAATAGAACAATCTAATTTACAAGT AAAGAA	GKN2	ENSG00000183607.10	transcript	ENST00000328895.9	protein_coding		4563		chr2	TogoVar
GK_chrX_30648423_30736462	30704128	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	77	0.0130	40	c.851 others(57): Show c.851+3244_851+3245insATATATATATATATATATATATATATAT ATATATATATAT	GK	ENSG00000198814.14	transcript	ENST00000427190.6	protein_coding	11/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
GLB1_chr3_32991617_33102146	33074385	G G	GAAGAAAG others(33): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0010 a0005c0009t0001g0010	1	269	0.0037	40	c.76- others(55): Show c.76-1673_76-1672insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33074389	G G	GAAGAAAG others(33): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01993.hp1 HG02970.hp1 others(1): Show HG01496.hp2 HG01993.hp1 HG02970.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0028 a0001c0001t0001g0081 a0001c0001t0001g0082 others(1): Show a0001c0001t0001g0028 a0001c0001t0001g0081 a0001c0001t0001g0082 a0002c0002t0001g0370	4	23	0.1739	40	c.76- others(55): Show c.76-1677_76-1676insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33074389	G G	GAAGGAAG others(33): Show GAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG02630.hp2 others(3): Show HG01257.hp1 HG01258.hp1 HG02630.hp2 HG03239.hp1 NA18952.hp2 NA19012.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0080 a0001c0001t0001g0089 a0001c0001t0002g0227 others(3): Show a0001c0001t0001g0080 a0001c0001t0001g0089 a0001c0001t0002g0227 a0002c0002t0001g0348 a0002c0002t0001g0349 a0002c0002t0002g0275	6	25	0.2400	40	c.76- others(55): Show c.76-1677_76-1676insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTCCTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33074389	G G	GAAGGAAG others(33): Show GAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp2 HG01255.hp2 others(5): Show HG00642.hp2 HG00738.hp2 HG01255.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG02602.hp2 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0330 a0002c0002t0001g0345 a0002c0002t0001g0364 others(5): Show a0002c0002t0001g0330 a0002c0002t0001g0345 a0002c0002t0001g0364 a0002c0002t0002g0264 a0002c0002t0002g0265 a0002c0002t0002g0274 a0002c0002t0002g0313 a0002c0002t0002g0350	8	27	0.2963	40	c.76- others(55): Show c.76-1677_76-1676insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTCCTTCCTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33074389	G G	GAAGGAAG others(33): Show GAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA20905.hp2 NA18964.hp2 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0002 a0002c0003t0001 a0002c0002t0002 a0002c0003t0001	a0002c0002t0002g0299 a0002c0003t0001g0276 a0002c0002t0002g0299 a0002c0003t0001g0276	2	21	0.0952	40	c.76- others(55): Show c.76-1677_76-1676insTCTTTCTTTCTTTCTTTCTTTCTTTCTTCC TTCCTTCCTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33074389	G G	GAAGGAAG others(33): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0294 a0002c0003t0001g0294	1	20	0.0500	40	c.76- others(55): Show c.76-1677_76-1676insTCTTTCTTTCTTTCTTCCTTCCTTCCTTCC TTCCTTCCTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLDC_chr9_6527467_6650729	6629957	A A	ATATATAT others(33): Show ATATATATATATATATGTATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02965.hp2 NA19065.hp2 HG01256.hp2 HG02965.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0003t0002g0045 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0003t0002g0045	3	173	0.0173	40	c.335 others(57): Show c.335-9639_335-9638insAAAAAATATATATATATATATATACATA TATATATATATA	GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding	2/24			chr9	TogoVar
GLDC_chr9_6527467_6650729	6629957	A A	ATATATAT others(33): Show ATATATATATATATATGTATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG03225.hp2 HG03491.hp2 others(3): Show HG01981.hp2 HG03225.hp2 HG03491.hp2 HG03492.hp1 HG03579.hp2 HG03831.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0006 a0001c0002 a0002c0006	a0001c0002t0001 a0001c0002t0009 a0002c0006t0001 a0001c0002t0001 a0001c0002t0009 a0002c0006t0001	a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0085 others(3): Show a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0009g0020 a0002c0006t0001g0126	6	176	0.0341	40	c.335 others(57): Show c.335-9639_335-9638insAAAAAAAATATATATATATATATACATA TATATATATATA	GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding	2/24			chr9	TogoVar
GLDC_chr9_6527467_6650729	6629957	A A	ATATATAT others(33): Show ATATATATATATATGTATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0022 a0001c0020t0022	a0001c0020t0022g0079 a0001c0020t0022g0079	1	171	0.0058	40	c.335 others(57): Show c.335-9639_335-9638insAAAATATATATATATATATATATATACA TATATATATATA	GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding	2/24			chr9	TogoVar
GLDC_chr9_6527467_6650729	6629957	A A	ATATATAT others(33): Show ATATATATATATATGTATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0108 a0001c0004t0001g0108	1	171	0.0058	40	c.335 others(57): Show c.335-9639_335-9638insAAAAAATATATATATATATATATATACA TATATATATATA	GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding	2/24			chr9	TogoVar
GLE1_chr9_128499719_128547288	128520336	G G	GTGTATAT others(33): Show GTGTATATATGTATATATGTATGTGTGTATATATGTATATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	351	0.0028	40	c.433 others(57): Show c.433-2325_433-2324insATGTATATATGTATGTGTGTATATATGT ATATATGTATAT	GLE1	ENSG00000119392.16	transcript	ENST00000309971.9	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
GLE1_chr9_128499719_128547288	128520336	G G	GTGTATAT others(33): Show GTGTATATGTGTATATATGTATGTGTGTATATATGTATATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01358.hp1 HG02615.hp1 others(2): Show HG00735.hp1 HG01358.hp1 HG02615.hp1 HG02717.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0136 a0001c0001t0001g0137 others(2): Show a0001c0001t0001g0065 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139	5	355	0.0141	40	c.433 others(57): Show c.433-2290_433-2251dupGTATATGTGTATATATGTATGTGTGTAT ATATGTATATAT	GLE1	ENSG00000119392.16	transcript	ENST00000309971.9	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
GLG1_chr16_74442440_74612114	74539999	A A	ATATTTTA others(33): Show ATATTTTATATATATATTATATATATATTTTATATATATAT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA19002.hp1 NA18954.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0290 a0001c0001t0002g0294 a0001c0001t0002g0290 a0001c0001t0002g0294	2	170	0.0118	40	c.439 others(57): Show c.439-7847_439-7846insATATATATATAAAATATATATATAATAT ATATATAAAATA	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25			chr16	TogoVar
GLI2_chr2_120730868_120997653	120995109	C C	CTTTTACA others(33): Show CTTTTACATACTTTACACTTCTTTTGTTTTACTCACTACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0027 a0002c0001t0027	a0002c0001t0027g0048 a0002c0001t0027g0048	1	160	0.0063	40	c.44 others(51): Show c.4434_*4435insTTTTACATACTTTACACTTCTTTTGTTTTACTCA CTACCT	GLI2	ENSG00000074047.22	transcript	ENST00000361492.9	protein_coding		2457		chr2	TogoVar
GLI3_chr7_41955949_42242209	42182664	A A	ATACGTGT others(33): Show ATACGTGTGTGTATATATATATATATATATATACGTGTGTG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0027 a0001c0018t0027	a0001c0018t0027g0139 a0001c0018t0027g0139	1	148	0.0068	40	c.125 others(59): Show c.125-34197_125-34196insCACACACGTATATATATATATATATA TATACACACACGTA	GLI3	ENSG00000106571.15	transcript	ENST00000395925.8	protein_coding	2/14			chr7	TogoVar
GLI3_chr7_41955949_42242209	42182666	A A	ACGTGTGT others(33): Show ACGTGTGTGTATATATATATATATATATATACGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0107 a0003c0003t0002g0108 a0003c0003t0002g0107 a0003c0003t0002g0108	2	151	0.0132	40	c.125 others(59): Show c.125-34199_125-34198insCACACACACGTATATATATATATATA TATATACACACACG	GLI3	ENSG00000106571.15	transcript	ENST00000395925.8	protein_coding	2/14			chr7	TogoVar
GLIS1_chr1_53501239_53744164	53709367	T T	TATACATA others(33): Show TATACATATATATATACATATATACATATATATACATATAC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0006 a0006c0007t0006	a0006c0007t0006g0033 a0006c0007t0006g0033	1	234	0.0043	40	c.259 others(59): Show c.259+28438_259+28439insGTATATGTATATATATGTATATATGT ATATATATATGTAT	GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	2/10			chr1	TogoVar
GLRA1_chr5_151817513_151929851	151849376	G G	GTTTCCTT others(33): Show GTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA18941.hp1 NA18990.hp2 others(1): Show HG04204.hp2 NA18941.hp1 NA18990.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0076 a0001c0001t0002g0245 a0001c0001t0002g0275 others(1): Show a0001c0001t0001g0076 a0001c0001t0002g0245 a0001c0001t0002g0275 a0001c0001t0002g0279	4	222	0.0180	40	c.912 others(57): Show c.912+1974_912+2013dupGGAAAGGAAAGGAAAGGAAAGGAAAGGA AAGGAAAGGAAA	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar
GLRA1_chr5_151817513_151929851	151849396	C C	CTTTCCTT others(33): Show CTTTCCTTTCATTTCCTTTCCTTTCCTTTCCTTTCATTTCA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0139 a0001c0002t0001g0139	1	280	0.0036	40	c.912 others(57): Show c.912+1993_912+1994insTGAAATGAAAGGAAAGGAAAGGAAAGGA AATGAAAGGAAA	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar
GLRA1_chr5_151817513_151929851	151849458	T T	TTCCTTTC others(33): Show TTCCTTTCCTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	211	0.0047	40	c.912 others(57): Show c.912+1931_912+1932insGAGGGAGGGAGGGAGGGAGGGAGGGAAG GAAAGGAAAGGA	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar
GLT1D1_chr12_128848478_128989968	128874057	C C	CTGCCTCC others(33): Show CTGCCTCCCTCCCTCCCTCCCTCCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03209.hp1 HG02622.hp2 HG03209.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0043 a0003c0005t0004g0316 a0003c0005t0004g0043 a0003c0005t0004g0316	2	293	0.0068	40	c.69- others(55): Show c.69-1856_69-1855insGCCTCCCTCCCTCCCTCCCTCCTTTCTTTC TTTCTTTCTT	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128908323	C C	CTTCTTTC others(33): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0296 a0001c0002t0001g0296	1	254	0.0039	40	c.376 others(57): Show c.376-4078_376-4077insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTC	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104045937	A A	AAGAAAGA others(33): Show AAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAATAAG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	312	0.0032	40	c.-16 others(59): Show c.-164+3957_-164+3958insCTTATTTTCTTTCTTTCTTTCTTTTT CTTTCTTTCTTTCT	GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	1/10			chr12	TogoVar
GLTP_chr12_109845945_109885541	109846434	A A	AGACTCCG others(33): Show AGACTCCGTCTCAAAAAAATATATGTATATATGGGCTTGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0026	1	320	0.0031	40	c.61 others(51): Show c.6120_*6121insGCCAAGCCCATATATACATATATTTTTTTGAGAC GGAGTC	GLTP	ENSG00000139433.11	transcript	ENST00000318348.9	protein_coding		4510		chr12	TogoVar
GMCL2_chr5_178179505_178192371	178187475	A A	ATTTTTTT others(33): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	26	0.0385	40	c.-17 others(49): Show c.-177_-176insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	GMCL2	ENSG00000244234.3	transcript	ENST00000463439.3	protein_coding		105		chr5	TogoVar
GMDS_chr6_1618806_2250605	1999986	T T	TATATATT others(33): Show TATATATTATATATATATTTTATATATATATTATATATATA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG03017.hp1 HG03834.hp2 HG01934.hp1 HG03017.hp1 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0100 a0001c0002t0001g0159 a0001c0002t0002g0072 a0001c0002t0001g0100 a0001c0002t0001g0159 a0001c0002t0002g0072	3	160	0.0188	40	c.346 others(59): Show c.346-39021_346-39020insTATATATATAATATATATATAAAATA TATATATAATATAT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	4/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	2052116	C C	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	122	0.0082	40	c.345 others(59): Show c.345+63654_345+63655insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	4/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	2059707	C C	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0109 a0001c0002t0001g0109	1	6	0.1667	40	c.345 others(59): Show c.345+56063_345+56064insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	4/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	2229995	T T	TTTGCGAG others(33): Show TTTGCGAGACTCCTCTGAAGACCCCCCTCCAGAGTCCACAG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	163	0.0061	40	c.102 others(59): Show c.102+15325_102+15326insCTGTGGACTCTGGAGGGGGGTCTTCA GAGGAGTCTCGCAA	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	1/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	2230021	C C	CTCCAGAG others(33): Show CTCCAGAGTCCACAGTTGCGAGACTCCTCTGAAGACCCCTA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02258.hp1 HG02280.hp1 others(17): Show HG01243.hp2 HG02258.hp1 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02818.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03540.hp2 NA19043.hp1 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0002 a0001c0001t0001g0034 a0001c0001t0001g0035 others(17): Show a0001c0001t0001g0002 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0061 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0111 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0080 a0001c0001t0002g0085 a0001c0001t0002g0088 a0001c0002t0001g0036 a0001c0002t0001g0083 a0001c0002t0001g0090 a0001c0002t0002g0007	20	151	0.1325	40	c.102 others(59): Show c.102+15260_102+15299dupTAGGGGTCTTCAGAGGAGTCTCGCAA CTGTGGACTCTGGA	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	1/10			chr6	TogoVar

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