Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
GADL1_chr3_30721197_30899661	30895247	T T	TGTGTGTG others(18): Show TGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	282	0.0036	25	c.-63 others(34): Show c.-634_-633insCACACACACACACACACACACACAC	GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding		587		chr3	TogoVar
GAL3ST2_chr2_241771822_241809287	241800289	A A	ACAGGCTG others(18): Show ACAGGCTGGGAGCACAGCCGCCGACC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02647.hp1 HG02723.hp2 HG01109.hp1 HG02647.hp1 HG02723.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0051 a0001c0001t0001g0052 a0002c0002t0001g0083 a0001c0001t0001g0051 a0001c0001t0001g0052 a0002c0002t0001g0083	3	314	0.0096	25	c.119 others(42): Show c.119+1173_119+1197dupACAGCCGCCGACCCAGGCTGGGAGC	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALK2_chr15_49165247_49336882	49228687	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0172 a0001c0002t0004g0172	1	348	0.0029	25	c.267 others(42): Show c.267-7163_267-7162insATATATATATATATATATTTTTTTT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
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 a0001c0002t0004g0178 a0001c0002t0004g0170 a0001c0002t0004g0178	2	348	0.0058	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	a0001c0001t0030g0057 a0001c0001t0030g0057	1	348	0.0029	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	a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0150 a0001c0001t0001g0151	2	328	0.0061	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	a0001c0003t0005g0218 a0001c0003t0005g0218	1	328	0.0031	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	a0001c0001t0001g0151 a0001c0001t0001g0151	1	328	0.0031	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	a0001c0001t0003g0018 a0001c0001t0008g0017 a0001c0001t0003g0018 a0001c0001t0008g0017	2	214	0.0094	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 a0002c0003t0001g0079 a0001c0001t0002g0223 a0002c0003t0001g0079	2	226	0.0089	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	a0002c0003t0001g0054 a0002c0003t0001g0054	1	226	0.0044	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	a0002c0003t0001g0196 a0002c0003t0001g0196	1	388	0.0026	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	a0002c0010t0011g0334 a0002c0010t0011g0334	1	388	0.0026	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 a0001c0001t0002g0004 a0001c0001t0002g0010 others(5): Show a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0010 a0001c0001t0002g0191 a0001c0001t0002g0263 a0001c0001t0002g0321 a0001c0001t0012g0300 a0002c0003t0004g0144	9	388	0.0232	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	a0002c0002t0002g0014 a0002c0002t0002g0014	1	306	0.0033	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	76	0.0132	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	76	0.1447	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	76	0.0132	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	76	0.2105	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	76	0.0132	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	a0001c0001t0001g0218 a0001c0001t0004g0128 a0001c0001t0001g0218 a0001c0001t0004g0128	2	310	0.0065	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	a0001c0003t0006g0094 a0001c0003t0011g0291 a0001c0003t0006g0094 a0001c0003t0011g0291	2	324	0.0062	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	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0198 a0002c0005t0002g0198	1	282	0.0036	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 a0001c0001t0003g0083 a0001c0002t0001g0187 a0001c0001t0003g0078 a0001c0001t0003g0083 a0001c0002t0001g0187	3	266	0.0113	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	a0001c0002t0001g0186 a0001c0002t0001g0198 a0001c0002t0001g0186 a0001c0002t0001g0198	2	266	0.0075	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	a0005c0005t0001g0363 a0005c0005t0001g0363	1	384	0.0026	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	40	0.0250	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	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0102 a0001c0001t0035g0102	1	366	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	a0001c0001t0001g0119 a0001c0001t0006g0036 a0001c0001t0001g0119 a0001c0001t0006g0036	2	366	0.0055	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	a0001c0001t0001g0115 a0001c0001t0001g0115	1	366	0.0027	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	a0001c0001t0001g0090 a0001c0001t0005g0011 a0001c0001t0001g0090 a0001c0001t0005g0011	2	352	0.0057	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 a0001c0001t0001g0193 others(6): Show a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0193 a0001c0001t0001g0242 a0001c0001t0001g0346 a0001c0001t0002g0351 a0001c0001t0003g0188 a0001c0001t0005g0096 a0001c0001t0005g0097	9	352	0.0256	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	a0001c0001t0010g0245 a0001c0001t0010g0246 a0001c0001t0010g0245 a0001c0001t0010g0246	2	352	0.0057	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	a0001c0001t0001g0037 a0001c0001t0001g0037	1	352	0.0028	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	192	0.0052	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 a0007 a0001 a0007	a0001c0001 a0007c0004 a0001c0001 a0007c0004	a0001c0001t0001 a0007c0004t0001 a0001c0001t0001 a0007c0004t0001	a0001c0001t0001g0026 a0001c0001t0001g0046 a0001c0001t0001g0106 others(3): Show a0001c0001t0001g0026 a0001c0001t0001g0046 a0001c0001t0001g0106 a0001c0001t0001g0165 a0001c0001t0001g0232 a0007c0004t0001g0157	6	300	0.0200	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	a0001c0001t0001g0278 a0001c0001t0001g0278	1	300	0.0033	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	300	0.0033	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	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0189 a0008c0012t0001g0189	1	326	0.0031	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	a0003c0007 a0003c0007	a0003c0007t0012 a0003c0007t0012	a0003c0007t0012g0319 a0003c0007t0012g0320 a0003c0007t0012g0319 a0003c0007t0012g0320	2	326	0.0061	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	326	0.0061	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	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0269 a0001c0002t0010g0270 a0001c0002t0010g0271 a0001c0002t0010g0269 a0001c0002t0010g0270 a0001c0002t0010g0271	3	272	0.0110	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	143	0.0070	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	218	0.0046	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	218	0.0367	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	a0001c0001t0008g0235 a0001c0001t0008g0235	1	390	0.0026	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	a0001c0002t0003g0185 a0001c0002t0003g0185	1	292	0.0034	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	a0001c0004t0007g0273 a0001c0004t0007g0273	1	382	0.0026	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	a0002c0005t0001g0225 a0002c0005t0001g0225	1	382	0.0026	25	c.-97 others(34): Show c.-977_-976insGAAAGAAAGAAAGAAAGAAAGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		890		chr20	TogoVar

Search by Variant

Search

Search Results (Total: 8644 hits)