Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
GALK2_chr15_49165247_49336882	49228687	A A	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03942.hp1 HG03654.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0170 a0001c0002t0004g0176 a0001c0002t0004g0170 a0001c0002t0004g0176	2	137	0.0146	25	c.267 others(42): Show c.267-7163_267-7162insATATATATATATATATTTTTTTTTT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALK2_chr15_49165247_49336882	49228688	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0059 a0001c0001t0030g0059	1	295	0.0034	25	c.267 others(42): Show c.267-7163_267-7162insATATATATATATATATATATATATA	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	3/9			chr15	TogoVar
GALM_chr2_38661114_38739765	38686227	T T	TCCTTCCT others(18): Show TCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19005.hp1 NA19000.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0148 a0001c0001t0001g0149	2	285	0.0070	25	c.553 others(42): Show c.553-3585_553-3584insCTTCCTTCCTTCCTTCCTTCCTTCC	GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALM_chr2_38661114_38739765	38703092	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0217 a0001c0003t0005g0217	1	247	0.0040	25	c.634 others(44): Show c.634+13199_634+13200insATATATATATATATATATATTTTTT	GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALM_chr2_38661114_38739765	38708107	A A	AAAAATAA others(18): Show AAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	141	0.0071	25	c.634 others(44): Show c.634+18216_634+18217insATAAAATAAAATAAAATAAAATAAA	GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154014635	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01884.hp2 HG01070.hp1 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0016 a0001c0001t0008g0015 a0001c0001t0003g0016 a0001c0001t0008g0015	2	37	0.0541	25	c.142 others(44): Show c.142+70011_142+70012insTTTTTTTTTTTTTTTTTTTTTTTTT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT14_chr2_30905467_31143440	30977092	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03492.hp1 NA18945.hp1 HG03492.hp1 NA18945.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0002g0223 a0002c0003t0001g0072 a0001c0001t0002g0223 a0002c0003t0001g0072	2	161	0.0124	25	c.300 others(44): Show c.300-10791_300-10790insAAAAAAAAAAAAAAAAAAAAAAAAA	GALNT14	ENSG00000158089.15	transcript	ENST00000349752.10	protein_coding	2/14			chr2	TogoVar
GALNT14_chr2_30905467_31143440	31038085	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0055 a0002c0003t0001g0055	1	180	0.0056	25	c.130 others(44): Show c.130-45079_130-45078insTATATATATATATATATATATATAT	GALNT14	ENSG00000158089.15	transcript	ENST00000349752.10	protein_coding	1/14			chr2	TogoVar
GALNT15_chr3_16169680_16235165	16215916	A A	AAAACAAA others(18): Show AAAACAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0190 a0002c0003t0001g0190	1	331	0.0030	25	c.139 others(44): Show c.1392+3156_1392+3157insCAAAAAAAAAAAAAAAAAAAACAAA	GALNT15	ENSG00000131386.20	transcript	ENST00000339732.10	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
GALNT15_chr3_16169680_16235165	16215916	A A	AAACAAAA others(18): Show AAACAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0011 a0002c0010t0011	a0002c0010t0011g0318 a0002c0010t0011g0318	1	331	0.0030	25	c.139 others(44): Show c.1392+3155_1392+3156insCAAAAAAAAAAAAAAAAAAAAACAA	GALNT15	ENSG00000131386.20	transcript	ENST00000339732.10	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
GALNT15_chr3_16169680_16235165	16233094	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00673.hp1 HG01361.hp1 others(6): Show HG00558.hp1 HG00673.hp1 HG01361.hp1 HG01978.hp1 HG02056.hp1 HG02451.hp2 HG02602.hp2 NA18955.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0012 a0002c0003t0004 a0001c0001t0002 a0001c0001t0012 a0002c0003t0004	a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0018 others(5): Show a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0018 a0001c0001t0002g0183 a0001c0001t0002g0253 a0001c0001t0002g0302 a0001c0001t0012g0286 a0002c0003t0004g0138	9	113	0.0796	25	c.55 others(36): Show c.5594_*5595insTTTTTTTTTTTTTTTTTTTTTTTTT	GALNT15	ENSG00000131386.20	transcript	ENST00000339732.10	protein_coding		2930		chr3	TogoVar
GALNT16_chr14_69255158_69359466	69356554	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0017 a0002c0002t0002g0017	1	121	0.0083	25	c.43 others(36): Show c.4386_*4387insTTTTTTTTTTTTTTTTTTTTTTTTT	GALNT16	ENSG00000100626.17	transcript	ENST00000448469.8	protein_coding		2089		chr14	TogoVar
GALNT17_chr7_71127144_71718599	71265118	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0069 a0001c0003t0002g0069	1	25	0.0400	25	c.239 others(44): Show c.239-70431_239-70430insATATATATATATATATATATTTTTT	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71316188	G G	GTCCTGAT others(18): Show GTCCTGATCTGTGGGTCTGATCAGGA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00642.hp1 HG01261.hp2 others(8): Show HG00438.hp2 HG00642.hp1 HG01261.hp2 HG02109.hp2 HG02280.hp1 HG02451.hp2 HG02622.hp2 HG02717.hp1 HG02976.hp2 HG03704.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0002t0003 a0001c0003t0002 a0001c0009t0010	a0001c0001t0001g0045 a0001c0001t0002g0019 a0001c0001t0003g0002 others(8): Show a0001c0001t0001g0045 a0001c0001t0002g0019 a0001c0001t0003g0002 a0001c0001t0004g0046 a0001c0001t0005g0054 a0001c0001t0006g0064 a0001c0001t0008g0022 a0001c0001t0009g0065 a0001c0002t0003g0006 a0001c0003t0002g0067 a0001c0009t0010g0071	11	42	0.2619	25	c.239 others(44): Show c.239-19298_239-19274dupGTCTGATCAGGATCCTGATCTGTGG	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71316252	G G	GTCTGATC others(18): Show GTCTGATCAGGATCCTGATCTGTGGA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0004 a0001c0002t0003g0004	1	50	0.0200	25	c.239 others(44): Show c.239-19293_239-19269dupATCAGGATCCTGATCTGTGGATCTG	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71592544	A A	AATAAAAT others(18): Show AATAAAATAAAATAAAATAGCATAGC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp2 HG01106.hp1 others(13): Show HG00642.hp2 HG00738.hp2 HG01106.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG02040.hp2 HG02129.hp2 HG02451.hp2 HG02922.hp2 HG02976.hp2 HG03130.hp1 HG03704.hp1 HG04228.hp2 NA18983.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009 a0002c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0002t0003 a0001c0002t0010 a0001c0003t0002 a0001c0003t0014 a0001c0004t0003 a0001c0004t0004 a0001c0009t0010 a0002c0010t0003	a0001c0001t0001g0037 a0001c0001t0002g0019 a0001c0001t0006g0056 others(13): Show a0001c0001t0001g0037 a0001c0001t0002g0019 a0001c0001t0006g0056 a0001c0001t0006g0057 a0001c0001t0009g0063 a0001c0001t0011g0040 a0001c0001t0012g0012 a0001c0002t0003g0004 a0001c0002t0010g0074 a0001c0003t0002g0067 a0001c0003t0014g0068 a0001c0003t0014g0070 a0001c0004t0003g0013 a0001c0004t0004g0030 a0001c0009t0010g0071 a0002c0010t0003g0009	16	17	0.9412	25	c.108 others(46): Show c.1080+21145_1080+21146insAAATAAAATAAAATAGCATAGCAT A	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71592563	C C	CTAAAATA others(18): Show CTAAAATAAAATAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	22	0.0455	25	c.108 others(46): Show c.1080+21181_1080+21205dupATAAAATAAAATAAAATAAAATAA A	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71603086	G G	GTACTATG others(18): Show GTACTATGCTAAGTGCATATACCAGA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0004 a0001c0002t0003g0004	1	76	0.0132	25	c.108 others(46): Show c.1080+31721_1080+31745dupGTGCATATACCAGATACTATGCTA A	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT1_chr18_35576740_35716834	35597988	A A	ACTCCCCT others(18): Show ACTCCCCTCCCCTCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA19072.hp1 HG02109.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0211 a0001c0001t0004g0124 a0001c0001t0001g0211 a0001c0001t0004g0124	2	263	0.0076	25	c.-10 others(46): Show c.-104+16136_-104+16160dupCCTCCCCTCCCCTCCCCTCCCCTC C	GALNT1	ENSG00000141429.14	transcript	ENST00000269195.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GALNT2_chr1_230062238_230287122	230222031	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02970.hp1 HG00741.hp2 HG02970.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0011 a0001c0003t0006 a0001c0003t0011	a0001c0003t0006g0093 a0001c0003t0011g0298 a0001c0003t0006g0093 a0001c0003t0011g0298	2	73	0.0274	25	c.375 others(44): Show c.375-13970_375-13969insTTTTTTTTTTTTTTTTTTTTTTTTT	GALNT2	ENSG00000143641.10	transcript	ENST00000366672.5	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
GALNT5_chr2_157252705_157323491	157256569	A A	AAAAAAAA others(18): Show AAAAAAAAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0199 a0002c0005t0001g0199	1	173	0.0058	25	c.-15 others(36): Show c.-1514_-1513insAAAAAAAAAATATATATATATATAT	GALNT5	ENSG00000136542.9	transcript	ENST00000259056.5	protein_coding		1135		chr2	TogoVar
GALNT7_chr4_173163811_173328967	173216727	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA18970.hp2 NA19240.hp2 HG02615.hp2 NA18970.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0078 a0001c0001t0003g0081 a0001c0002t0001g0189 a0001c0001t0003g0078 a0001c0001t0003g0081 a0001c0002t0001g0189	3	48	0.0625	25	c.127 others(44): Show c.127-31252_127-31251insATATATATATATATATATATATATT	GALNT7	ENSG00000109586.12	transcript	ENST00000265000.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNT7_chr4_173163811_173328967	173216728	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02300.hp1 NA20300.hp1 HG02300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0187 a0001c0002t0001g0198 a0001c0002t0001g0187 a0001c0002t0001g0198	2	262	0.0076	25	c.127 others(44): Show c.127-31252_127-31251insATATATATATATATATATATATATA	GALNT7	ENSG00000109586.12	transcript	ENST00000265000.9	protein_coding	1/11			chr4	TogoVar
GALNTL5_chr7_151951446_152024929	151990580	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0362 a0005c0005t0001g0362	1	4	0.2500	25	c.658 others(42): Show c.658+3311_658+3312insAAAAAAAAAAAAAAAAAAAAAAAAA	GALNTL5	ENSG00000106648.15	transcript	ENST00000392800.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNTL6_chr4_171808404_173046559	172429175	A A	ATTATTTT others(18): Show ATTATTTTATTTTATTTTATTTTATT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	18	0.0556	25	c.553 others(44): Show c.553+80505_553+80506insTTTATTTTATTTTATTTTATTTTAT	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALR1_chr18_77244848_77282900	77281057	G G	GTTATATA others(18): Show GTTATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0115 a0001c0001t0036g0115	1	364	0.0027	25	c.12 others(38): Show c.12155_*12156insTTATATATATATATATATATATATA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding		3158		chr18	TogoVar
GALR1_chr18_77244848_77282900	77281062	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 NA19056.hp1 HG01943.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0100 a0001c0001t0006g0042 a0001c0001t0001g0100 a0001c0001t0006g0042	2	56	0.0357	25	c.12 others(38): Show c.12160_*12161insTATATATATATATATATATATATAT	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding		3163		chr18	TogoVar
GALR1_chr18_77244848_77282900	77281091	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	355	0.0028	25	c.12 others(38): Show c.12189_*12190insTATATATATATATATATATATATAT	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding		3192		chr18	TogoVar
GAP43_chr3_115618510_115726483	115661831	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02723.hp2 HG02647.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0094 a0001c0001t0005g0015 a0001c0001t0001g0094 a0001c0001t0005g0015	2	75	0.0267	25	c.31- others(42): Show c.31-14168_31-14167insTTTTTTTTTTTTTTTTTTTTTTTTT	GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
GAP43_chr3_115618510_115726483	115672732	C C	CCCTCTCC others(18): Show CCCTCTCCTCTCCTCTCCTCTCCTCT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01891.hp2 HG02109.hp1 others(6): Show HG01175.hp1 HG01891.hp2 HG02109.hp1 HG02965.hp1 HG02976.hp2 HG03041.hp1 HG03195.hp2 HG03453.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0194 others(6): Show a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0194 a0001c0001t0001g0235 a0001c0001t0001g0342 a0001c0001t0002g0347 a0001c0001t0003g0189 a0001c0001t0005g0100 a0001c0001t0005g0101	9	72	0.1250	25	c.31- others(40): Show c.31-3267_31-3243dupCTCCTCTCCTCTCCTCTCCTCTCCT	GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
GAP43_chr3_115618510_115726483	115698140	A A	AATATATA others(18): Show AATATATAAAATATATAATATATATT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0238 a0001c0001t0010g0239 a0001c0001t0010g0238 a0001c0001t0010g0239	2	137	0.0146	25	c.628 others(44): Show c.628+21537_628+21538insAAATATATAATATATATTATATATA	GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
GAP43_chr3_115618510_115726483	115698210	T T	TAATATAT others(18): Show TAATATATAATATATAATATATATAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	330	0.0030	25	c.628 others(44): Show c.628+21602_628+21603insTATATAATATATAATATATATAAAA	GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
GAREM1_chr18_32258522_32475882	32364028	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0045 a0002c0005t0004g0045	1	112	0.0089	25	c.262 others(44): Show c.262+28866_262+28867insAAAAAAAAAAAAAAAAAAAAAAAAA	GAREM1	ENSG00000141441.16	transcript	ENST00000269209.7	protein_coding	2/5			chr18	TogoVar
GARNL3_chr9_127259774_127398660	127331720	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01891.hp1 HG02027.hp2 others(3): Show HG01074.hp2 HG01891.hp1 HG02027.hp2 HG02056.hp2 HG02132.hp2 NA19006.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0026 a0001c0001t0001g0046 a0001c0001t0001g0106 others(3): Show a0001c0001t0001g0026 a0001c0001t0001g0046 a0001c0001t0001g0106 a0001c0001t0001g0165 a0001c0001t0001g0232 a0002c0004t0001g0157	6	32	0.1875	25	c.595 others(40): Show c.595-539_595-538insTTTTTTTTTTTTTTTTTTTTTTTTT	GARNL3	ENSG00000136895.19	transcript	ENST00000373387.9	protein_coding	7/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GARNL3_chr9_127259774_127398660	127391533	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	157	0.0064	25	c.287 others(42): Show c.2870+767_2870+768insAAAAAAAAAAAAAAAAATATATATA	GARNL3	ENSG00000136895.19	transcript	ENST00000373387.9	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GARNL3_chr9_127259774_127398660	127394858	A A	ACTGTGGG others(18): Show ACTGTGGGGAAAGTTCCCCTCTCTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	221	0.0045	25	c.16 others(36): Show c.1604_*1605insCTGTGGGGAAAGTTCCCCTCTCTGT	GARNL3	ENSG00000136895.19	transcript	ENST00000373387.9	protein_coding		1199		chr9	TogoVar
GARRE1_chr19_34249554_34360566	34293715	A A	ACACACAC others(18): Show ACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0189 a0004c0010t0001g0189	1	39	0.0256	25	c.-79 others(44): Show c.-795-5964_-795-5963insCACACACACACACACACACACACAC	GARRE1	ENSG00000166398.14	transcript	ENST00000299505.8	protein_coding	1/13			chr19	TogoVar
GARRE1_chr19_34249554_34360566	34295515	G G	GTGTTTTG others(18): Show GTGTTTTGTTTTGTTTTGTTTTGTTT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG04204.hp1 HG02683.hp2 HG04204.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0012 a0003c0005t0012	a0003c0005t0012g0319 a0003c0005t0012g0320 a0003c0005t0012g0319 a0003c0005t0012g0320	2	200	0.0100	25	c.-79 others(44): Show c.-795-4157_-795-4133dupGTTTTGTTTTGTTTTGTTTTGTTTT	GARRE1	ENSG00000166398.14	transcript	ENST00000299505.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
GARRE1_chr19_34249554_34360566	34340438	T T	TTTTTCTT others(18): Show TTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03486.hp1 HG03225.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0153 a0001c0002t0003g0154 a0001c0002t0003g0153 a0001c0002t0003g0154	2	11	0.1818	25	c.148 others(42): Show c.1487+458_1487+482dupTTTCTTTTCTTTTCTTTTCTTTTCT	GARRE1	ENSG00000166398.14	transcript	ENST00000299505.8	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
GAS2_chr11_22661611_22818001	22789422	T T	TATATAAA others(18): Show TATATAAATATATATATATAAATATA	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA18906.hp1 NA19240.hp1 HG02976.hp1 NA18906.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0268 a0001c0002t0004g0269 a0001c0002t0004g0270 a0001c0002t0004g0268 a0001c0002t0004g0269 a0001c0002t0004g0270	3	267	0.0112	25	c.724 others(44): Show c.724-22376_724-22375insATATAAATATATATATATAAATATA	GAS2	ENSG00000148935.12	transcript	ENST00000454584.7	protein_coding	7/7			chr11	TogoVar
GAS6_chr13_113815549_113869076	113817496	C C	CGGGGCAC others(18): Show CGGGGCACATCCCCCCCTCCCTCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0047 a0001c0003t0001g0047	1	99	0.0101	25	c.33 others(36): Show c.3367_*3368insCTGGAGGGAGGGGGGGATGTGCCCC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding		3052		chr13	TogoVar
GAS7_chr17_9905606_10203606	10046876	G G	GGAAAAGA others(18): Show GGAAAAGAAAAGAAAAGAAAAGAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0047 a0001c0001t0003g0047	1	192	0.0052	25	c.184 others(44): Show c.184-27004_184-26980dupTTTTCTTTTCTTTTCTTTTCTTTTC	GAS7	ENSG00000007237.19	transcript	ENST00000432992.7	protein_coding	1/13			chr17	TogoVar
GAS7_chr17_9905606_10203606	10159063	A A	ACATATAT others(18): Show ACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02451.hp2 HG02965.hp2 others(5): Show HG02258.hp2 HG02451.hp2 HG02965.hp2 HG02976.hp2 HG06807.hp1 NA18993.hp1 NA19056.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0023 a0001c0001t0029 a0001c0001t0070 a0001c0003t0024	a0001c0001t0002g0118 a0001c0001t0003g0044 a0001c0001t0009g0037 others(5): Show a0001c0001t0002g0118 a0001c0001t0003g0044 a0001c0001t0009g0037 a0001c0001t0009g0056 a0001c0001t0023g0041 a0001c0001t0029g0122 a0001c0001t0070g0074 a0001c0003t0024g0050	8	56	0.1429	25	c.183 others(44): Show c.183+39144_183+39145insATATATATATATATATATATATATG	GAS7	ENSG00000007237.19	transcript	ENST00000432992.7	protein_coding	1/13			chr17	TogoVar
GAS8_chr16_90017680_90049960	90029189	T T	TGGGGGCA others(18): Show TGGGGGCAGCCTACGGGGCAGGCTGC	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0292 a0001c0001t0008g0292	1	151	0.0066	25	c.90+ others(40): Show c.90+1471_90+1472insGCAGCCTACGGGGCAGGCTGCGGGG	GAS8	ENSG00000141013.17	transcript	ENST00000268699.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
GASK1B_chr4_158119474_158178025	158149923	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0187 a0001c0002t0003g0187	1	32	0.0313	25	c.112 others(44): Show c.1125+5687_1125+5688insAAAAAAAAAAAAAAAAAAAAAAAAA	GASK1B	ENSG00000164125.16	transcript	ENST00000585682.6	protein_coding	3/4			chr4	TogoVar
GATA5_chr20_62458497_62480995	62471432	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0265 a0001c0004t0007g0265	1	122	0.0082	25	c.699 others(42): Show c.699+1970_699+1971insAAAAAAAAAAAAAAAAAAAAAAAAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding	3/6			chr20	TogoVar
GATA5_chr20_62458497_62480995	62476884	T T	TCTTTCTT others(18): Show TCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0217 a0002c0005t0001g0217	1	376	0.0027	25	c.-97 others(34): Show c.-977_-976insGAAAGAAAGAAAGAAAGAAAGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		890		chr20	TogoVar
GATA5_chr20_62458497_62480995	62476884	T T	TTTTTCTT others(18): Show TTTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0158 a0001c0001t0004g0158	1	376	0.0027	25	c.-97 others(34): Show c.-977_-976insGAAAGAAAGAAAGAAAGAAAGAAAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		890		chr20	TogoVar
GATA5_chr20_62458497_62480995	62476924	T T	TCCTTCCT others(18): Show TCCTTCCTTCCTTCCTTCCTTCCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0002 a0002	a0002c0030 a0002c0030	a0002c0030t0003 a0002c0030t0003	a0002c0030t0003g0278 a0002c0030t0003g0278	1	379	0.0026	25	c.-10 others(36): Show c.-1017_-1016insGAAGGAAGGAAGGAAGGAAGGAAGG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		930		chr20	TogoVar
GATA5_chr20_62458497_62480995	62476932	T T	TCCTTCCT others(18): Show TCCTTCCTTCCTTCCTTCCTTCCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0265 a0001c0004t0007g0265	1	377	0.0027	25	c.-10 others(36): Show c.-1025_-1024insGAAGGAAGGAAGGAAGGAAGGAAGG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		938		chr20	TogoVar

Search by Variant

Search

Search Results