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.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
AFP_chr4_73431221_73461174	73461133	T T	TTCTTCTT others(4): Show TTCTTCTTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	390	0.0026	11	c.55 others(22): Show c.5513_*5514insTCTTCTTCTTC	AFP	ENSG00000081051.8	transcript	ENST00000395792.7	protein_coding		4960		chr4	TogoVar
AFP_chr4_73431221_73461174	73461141	T T	TTCTTCTT others(4): Show TTCTTCTTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	390	0.0026	11	c.55 others(22): Show c.5521_*5522insTCTTCTTCTTC	AFP	ENSG00000081051.8	transcript	ENST00000395792.7	protein_coding		4968		chr4	TogoVar
AFTPH_chr2_64519328_64598005	64545570	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	372	0.0027	11	c.-32 others(28): Show c.-32-5841_-32-5831dupAAAAAAAAAAA	AFTPH	ENSG00000119844.17	transcript	ENST00000409933.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
AFTPH_chr2_64519328_64598005	64597346	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0089 a0001c0001t0005g0089	1	372	0.0027	11	c.53 others(22): Show c.5311_*5312insTTTTTTTTTTT	AFTPH	ENSG00000119844.17	transcript	ENST00000409933.6	protein_coding		4342		chr2	TogoVar
AGAP1_chr2_235489043_236136793	235627192	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0007 a0001c0019t0007	a0001c0019t0007g0056 a0001c0019t0007g0056	1	98	0.0102	11	c.164 others(30): Show c.164-81973_164-81963dupTTTTTTTTTTT	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGAP1_chr2_235489043_236136793	235702934	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0072 a0001c0002t0004g0072	1	98	0.0102	11	c.164 others(28): Show c.164-6243_164-6233dupTTTTTTTTTTT	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGAP1_chr2_235489043_236136793	235709521	G G	GTGTGTGT others(4): Show GTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00642.hp2 HG00741.hp1 others(15): Show HG00438.hp1 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01106.hp2 HG01928.hp1 HG02080.hp2 HG02083.hp1 HG02630.hp1 HG02818.hp2 HG02976.hp1 HG03098.hp2 HG03486.hp1 HG03831.hp2 HG04199.hp1 NA19011.hp1 NA20300.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0001c0016 a0001c0018 a0002c0004 a0002c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(13): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0024 a0001c0002t0001 a0001c0002t0004 a0001c0002t0013 a0001c0006t0046 a0001c0016t0007 a0001c0018t0049 a0002c0004t0001 a0002c0004t0006 a0002c0004t0045 a0002c0007t0005 a0002c0007t0008	a0001c0001t0002g0049 a0001c0001t0003g0063 a0001c0001t0005g0012 others(15): Show a0001c0001t0002g0049 a0001c0001t0003g0063 a0001c0001t0005g0012 a0001c0001t0008g0069 a0001c0001t0024g0077 a0001c0002t0001g0018 a0001c0002t0001g0068 a0001c0002t0004g0079 a0001c0002t0013g0035 a0001c0006t0046g0040 a0001c0016t0007g0089 a0001c0018t0049g0080 a0002c0004t0001g0017 a0002c0004t0001g0043 a0002c0004t0006g0024 a0002c0004t0045g0039 a0002c0007t0005g0094 a0002c0007t0008g0011	18	98	0.1837	11	c.222 others(26): Show c.222+285_222+295dupTGTGTGTGTGT	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGAP1_chr2_235489043_236136793	235746377	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG04199.hp1 NA19011.hp1 HG01168.hp2 HG04199.hp1 NA19011.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0001 a0002c0004t0001 a0001c0002t0001 a0002c0004t0001	a0001c0002t0001g0018 a0001c0002t0001g0068 a0002c0004t0001g0025 a0001c0002t0001g0018 a0001c0002t0001g0068 a0002c0004t0001g0025	3	98	0.0306	11	c.538 others(28): Show c.538+1562_538+1572dupTTTTTTTTTTT	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGAP1_chr2_235489043_236136793	235770133	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01123.hp2 HG01884.hp1 others(14): Show HG01106.hp1 HG01123.hp2 HG01884.hp1 HG02083.hp2 HG02109.hp1 HG02135.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02976.hp2 HG03139.hp1 HG03453.hp2 HG03486.hp2 HG03579.hp2 HG04199.hp2 NA19011.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0014 a0001c0017 a0002c0020	a0001c0001t0003 a0001c0002t0001 a0001c0003t0002 others(13): Show a0001c0001t0003 a0001c0002t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0009 a0001c0003t0012 a0001c0003t0047 a0001c0005t0001 a0001c0005t0031 a0001c0006t0001 a0001c0006t0006 a0001c0006t0033 a0001c0006t0035 a0001c0014t0016 a0001c0017t0008 a0002c0020t0001	a0001c0001t0003g0034 a0001c0001t0003g0090 a0001c0002t0001g0027 others(14): Show a0001c0001t0003g0034 a0001c0001t0003g0090 a0001c0002t0001g0027 a0001c0003t0002g0005 a0001c0003t0003g0001 a0001c0003t0009g0096 a0001c0003t0012g0066 a0001c0003t0047g0033 a0001c0005t0001g0057 a0001c0005t0031g0031 a0001c0006t0001g0016 a0001c0006t0006g0019 a0001c0006t0033g0087 a0001c0006t0035g0044 a0001c0014t0016g0048 a0001c0017t0008g0092 a0002c0020t0001g0022	17	98	0.1735	11	c.673 others(30): Show c.673+19647_673+19657dupTTTTTTTTTTT	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGAP1_chr2_235489043_236136793	235884457	T T	TTTTTTTG others(4): Show TTTTTTTGTTTG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02572.hp1 HG02615.hp1 others(4): Show HG02109.hp2 HG02572.hp1 HG02615.hp1 HG02630.hp2 HG02896.hp2 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0011	a0001c0001t0011 a0001c0001t0044 a0001c0002t0001 others(4): Show a0001c0001t0011 a0001c0001t0044 a0001c0002t0001 a0001c0002t0014 a0001c0002t0039 a0001c0005t0004 a0001c0011t0036	a0001c0001t0011g0020 a0001c0001t0044g0041 a0001c0002t0001g0013 others(4): Show a0001c0001t0011g0020 a0001c0001t0044g0041 a0001c0002t0001g0013 a0001c0002t0014g0076 a0001c0002t0039g0059 a0001c0005t0004g0097 a0001c0011t0036g0009	7	98	0.0714	11	c.115 others(30): Show c.1155+1014_1155+1015insGTTTGTTTTTT	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGAP1_chr2_235489043_236136793	236047598	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02083.hp1 HG02647.hp1 others(1): Show HG01106.hp1 HG02083.hp1 HG02647.hp1 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0002c0007	a0001c0001t0002 a0001c0002t0042 a0001c0006t0035 others(1): Show a0001c0001t0002 a0001c0002t0042 a0001c0006t0035 a0002c0007t0008	a0001c0001t0002g0047 a0001c0002t0042g0067 a0001c0006t0035g0044 others(1): Show a0001c0001t0002g0047 a0001c0002t0042g0067 a0001c0006t0035g0044 a0002c0007t0008g0011	4	98	0.0408	11	c.189 others(30): Show c.1892-1449_1892-1439dupTTTTTTTTTTT	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGAP3_chr7_151081475_151149434	151105776	G G	GCCCCCCC others(4): Show GCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	354	0.0028	11	c.332 others(30): Show c.332-11016_332-11006dupCCCCCCCCCCC	AGAP3	ENSG00000133612.20	transcript	ENST00000397238.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
AGAP5_chr10_73669295_73703109	73669731	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0202 a0002c0002t0001g0202	1	368	0.0027	11	c.48 others(22): Show c.4867_*4868insTTTTTTTTTTT	AGAP5	ENSG00000172650.15	transcript	ENST00000374094.9	protein_coding		4563		chr10	TogoVar
AGAP5_chr10_73669295_73703109	73669760	A A	AAAAAAAA others(4): Show AAAAAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00621.hp2 HG00639.hp1 others(65): Show HG00099.hp1 HG00621.hp2 HG00639.hp1 HG00741.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG02015.hp1 HG02083.hp2 HG02129.hp2 HG02273.hp1 HG02300.hp1 HG02523.hp2 HG02622.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03139.hp1 HG03239.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03669.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18941.hp1 NA18949.hp1 NA18957.hp1 NA18959.hp1 NA18962.hp2 NA18985.hp1 NA18991.hp2 NA18993.hp2 NA19003.hp1 NA19007.hp2 NA19054.hp2 NA19064.hp1 NA19074.hp2 NA19080.hp2 NA19085.hp1 NA19091.hp2 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0008 a0010 a0014	a0001c0001 a0002c0002 a0003c0003 others(4): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0008c0009 a0010c0016 a0014c0014	a0001c0001t0001 a0001c0001t0008 a0002c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0008 a0002c0002t0001 a0002c0002t0003 a0003c0003t0001 a0003c0003t0005 a0004c0004t0002 a0008c0009t0001 a0010c0016t0001 a0014c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0024 others(50): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0131 a0001c0001t0001g0138 a0001c0001t0001g0165 a0001c0001t0008g0133 a0002c0002t0001g0005 a0002c0002t0001g0021 a0002c0002t0001g0037 a0002c0002t0001g0039 a0002c0002t0001g0043 a0002c0002t0001g0169 a0002c0002t0001g0171 a0002c0002t0001g0174 a0002c0002t0001g0182 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0195 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0003g0041 a0002c0002t0003g0193 a0003c0003t0001g0003 a0003c0003t0001g0025 a0003c0003t0001g0027 a0003c0003t0001g0028 a0003c0003t0001g0062 a0003c0003t0001g0067 a0003c0003t0001g0068 a0003c0003t0001g0072 a0003c0003t0001g0077 a0003c0003t0001g0078 a0003c0003t0001g0083 a0003c0003t0001g0084 a0003c0003t0001g0085 a0003c0003t0001g0088 a0003c0003t0001g0093 a0003c0003t0001g0095 a0003c0003t0001g0098 a0003c0003t0001g0099 a0003c0003t0001g0101 a0003c0003t0001g0103 a0003c0003t0001g0126 a0003c0003t0005g0218 a0004c0004t0002g0045 a0008c0009t0001g0104 a0010c0016t0001g0132 a0014c0014t0001g0102	68	368	0.1848	11	c.48 others(22): Show c.4838_*4839insGTTTTTTTTTT	AGAP5	ENSG00000172650.15	transcript	ENST00000374094.9	protein_coding		4534		chr10	TogoVar
AGAP6_chr10_49983406_50015499	50007392	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03017.hp2 HG03669.hp2 others(3): Show HG02735.hp2 HG03017.hp2 HG03669.hp2 NA18945.hp2 NA18962.hp2 NA19062.hp2	a0003 a0003	a0003c0003 a0003c0031 a0003c0003 a0003c0031	a0003c0003t0003 a0003c0031t0003 a0003c0003t0003 a0003c0031t0003	a0003c0003t0003g0053 a0003c0003t0003g0228 a0003c0003t0003g0233 others(2): Show a0003c0003t0003g0053 a0003c0003t0003g0228 a0003c0003t0003g0233 a0003c0003t0003g0234 a0003c0031t0003g0230	6	406	0.0148	11	c.534 others(26): Show c.534-617_534-607dupAAAAAAAAAAA	AGAP6	ENSG00000204149.16	transcript	ENST00000412531.7	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
AGAP6_chr10_49983406_50015499	50015038	C C	CCTCTCCT others(4): Show CCTCTCCTCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02717.hp1 HG03486.hp2 HG02258.hp1 HG02717.hp1 HG03486.hp2	a0013 a0014 a0015 a0013 a0014 a0015	a0013c0032 a0014c0033 a0015c0034 a0013c0032 a0014c0033 a0015c0034	a0013c0032t0004 a0014c0033t0004 a0015c0034t0004 a0013c0032t0004 a0014c0033t0004 a0015c0034t0004	a0013c0032t0004g0215 a0014c0033t0004g0056 a0015c0034t0004g0055 a0013c0032t0004g0215 a0014c0033t0004g0056 a0015c0034t0004g0055	3	406	0.0074	11	c.48 others(22): Show c.4852_*4853insCTCTCCTCCTG	AGAP6	ENSG00000204149.16	transcript	ENST00000412531.7	protein_coding		4540		chr10	TogoVar
AGBL1_chr15_86074871_86921156	86250525	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0005 a0001c0042t0005	a0001c0042t0005g0092 a0001c0042t0005g0092	1	132	0.0076	11	c.735 others(28): Show c.735+2684_735+2694dupAAAAAAAAAAA	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86250562	A A	AAAAAACA others(4): Show AAAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03139.hp1 HG02630.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0107 a0001c0001t0001g0110	2	132	0.0152	11	c.735 others(28): Show c.735+2688_735+2689insCAAAACAAAAA	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86262078	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0045 a0001c0006t0045	a0001c0006t0045g0044 a0001c0006t0045g0044	1	132	0.0076	11	c.970 others(26): Show c.970-694_970-684dupTTTTTTTTTTT	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86298265	A A	ATATATGG others(4): Show ATATATGGTAAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0009 a0001c0032t0009	a0001c0032t0009g0108 a0001c0032t0009g0108	1	132	0.0076	11	c.237 others(30): Show c.2374+2862_2374+2863insGGTAACTATAT	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	17/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86390660	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0003 a0003	a0003c0040 a0003c0040	a0003c0040t0004 a0003c0040t0004	a0003c0040t0004g0089 a0003c0040t0004g0089	1	132	0.0076	11	c.237 others(30): Show c.2375-6690_2375-6680dupTTTTTTTTTTT	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	17/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86433266	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02559.hp2 HG02615.hp1 others(2): Show HG01258.hp2 HG02559.hp2 HG02615.hp1 HG02738.hp2 HG03834.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0019 a0001c0052 others(2): Show a0001c0001 a0001c0019 a0001c0052 a0009c0035 a0009c0037	a0001c0001t0003 a0001c0019t0001 a0001c0052t0026 others(2): Show a0001c0001t0003 a0001c0019t0001 a0001c0052t0026 a0009c0035t0007 a0009c0037t0004	a0001c0001t0003g0097 a0001c0019t0001g0057 a0001c0052t0026g0126 others(2): Show a0001c0001t0003g0097 a0001c0019t0001g0057 a0001c0052t0026g0126 a0009c0035t0007g0045 a0009c0037t0004g0043	5	132	0.0379	11	c.255 others(32): Show c.2555+35737_2555+35747dupTTTTTTTTTTT	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86501088	A A	AATTTGAC others(4): Show AATTTGACAAGG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0001 a0001c0002t0016g0001	1	132	0.0076	11	c.255 others(32): Show c.2556-21721_2556-21720insTTTGACAAGGA	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86606126	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp1 HG00735.hp1 others(19): Show HG00323.hp2 HG00544.hp1 HG00735.hp1 HG01070.hp1 HG01074.hp1 HG01192.hp1 HG01346.hp1 HG02145.hp1 HG02602.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02735.hp2 HG02895.hp2 HG03017.hp2 HG03098.hp2 HG03486.hp1 HG03654.hp1 HG04204.hp1 NA18906.hp2 NA19002.hp2 NA20129.hp2	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0011 a0012 a0013 a0014 a0015	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0013 a0001c0032 a0001c0059 a0002c0044 a0004c0009 a0004c0031 a0011c0047 a0012c0046 a0013c0045 a0014c0043 a0015c0028	a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 others(19): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 a0001c0002t0011 a0001c0003t0002 a0001c0003t0024 a0001c0003t0025 a0001c0003t0051 a0001c0004t0019 a0001c0004t0020 a0001c0008t0053 a0001c0013t0014 a0001c0032t0009 a0001c0059t0001 a0002c0044t0001 a0004c0009t0066 a0004c0031t0015 a0011c0047t0004 a0012c0046t0046 a0013c0045t0001 a0014c0043t0001 a0015c0028t0013	a0001c0001t0001g0110 a0001c0001t0005g0106 a0001c0001t0011g0094 others(19): Show a0001c0001t0001g0110 a0001c0001t0005g0106 a0001c0001t0011g0094 a0001c0002t0011g0005 a0001c0003t0002g0017 a0001c0003t0024g0048 a0001c0003t0025g0016 a0001c0003t0051g0024 a0001c0004t0019g0078 a0001c0004t0020g0080 a0001c0008t0053g0042 a0001c0013t0014g0122 a0001c0032t0009g0108 a0001c0059t0001g0011 a0002c0044t0001g0075 a0004c0009t0066g0019 a0004c0031t0015g0104 a0011c0047t0004g0086 a0012c0046t0046g0032 a0013c0045t0001g0085 a0014c0043t0001g0121 a0015c0028t0013g0131	22	132	0.1667	11	c.299 others(32): Show c.2994+51596_2994+51606dupAAAAAAAAAAA	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86707918	A A	AAATGGAG others(4): Show AAATGGAGGGTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0009 a0001c0032t0009	a0001c0032t0009g0108 a0001c0032t0009g0108	1	132	0.0076	11	c.315 others(32): Show c.3158+33486_3158+33496dupGGAGGGTTAAT	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86825387	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0012 a0012	a0012c0046 a0012c0046	a0012c0046t0046 a0012c0046t0046	a0012c0046t0046g0032 a0012c0046t0046g0032	1	132	0.0076	11	c.315 others(32): Show c.3159-81674_3159-81664dupAAAAAAAAAAA	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL2_chr11_47654591_47720369	47667170	A A	AGCAGAGG others(4): Show AGCAGAGGGTAT	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	356	0.0028	11	c.234 others(28): Show c.2341-118_2341-108dupATACCCTCTGC	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	16/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47678338	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0024 a0002c0002t0002g0024	1	356	0.0028	11	c.201 others(28): Show c.2017-938_2017-937insAAAAAAAAAAA	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	13/18			chr11	TogoVar
AGBL3_chr7_134981508_135140778	135096742	T T	TGAAGAAA others(4): Show TGAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	320	0.0031	11	c.211 others(32): Show c.2110+14955_2110+14956insGAAAGAAAGAA	AGBL3	ENSG00000146856.14	transcript	ENST00000436302.6	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AGBL4_chr1_48527854_50028954	48689219	A A	AAAAAAAA others(4): Show AAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	104	0.0096	11	c.635 others(30): Show c.635-25979_635-25978insCTTTTTTTTTT	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	6/13			chr1	TogoVar
AGBL4_chr1_48527854_50028954	48762614	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0062 a0001c0004t0003g0062	1	104	0.0096	11	c.635 others(30): Show c.635-99374_635-99373insCACACACACAC	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	6/13			chr1	TogoVar
AGBL4_chr1_48527854_50028954	48846362	G G	GAAGAAGA others(4): Show GAAGAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA18522.hp1 HG02922.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0082 a0001c0001t0003g0102 a0001c0001t0002g0082 a0001c0001t0003g0102	2	104	0.0192	11	c.634 others(30): Show c.634+20828_634+20829insTCTTTCTTCTT	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	6/13			chr1	TogoVar
AGBL4_chr1_48527854_50028954	48871386	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0093 a0001c0001t0005g0093	1	104	0.0096	11	c.595 others(28): Show c.595-4157_595-4156insCACACACACAC	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	5/13			chr1	TogoVar
AGBL4_chr1_48527854_50028954	49971907	G G	GTTGTTTT others(4): Show GTTGTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03130.hp2 HG03492.hp2 others(3): Show HG02559.hp1 HG03130.hp2 HG03492.hp2 NA18946.hp2 NA18983.hp1 NA19082.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0001c0007 a0004c0006 a0001c0002 a0001c0007 a0004c0006	a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0007t0003 a0004c0006t0004	a0001c0002t0001g0036 a0001c0002t0002g0003 a0001c0002t0002g0019 others(3): Show a0001c0002t0001g0036 a0001c0002t0002g0003 a0001c0002t0002g0019 a0001c0002t0006g0037 a0001c0007t0003g0032 a0004c0006t0004g0071	6	104	0.0577	11	c.34+ others(28): Show c.34+51855_34+51856insAAAAAAAACAA	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	1/13			chr1	TogoVar
AGBL4_chr1_48527854_50028954	49971907	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0004 a0004c0009t0004	a0004c0009t0004g0020 a0004c0009t0004g0020	1	104	0.0096	11	c.34+ others(28): Show c.34+51845_34+51855dupAAAAAAAAAAA	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	1/13			chr1	TogoVar
AGFG1_chr2_227467156_227566217	227497761	T T	TTTTTTTT others(4): Show TTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0067 a0001c0003t0013g0067	1	328	0.0031	11	c.261 others(28): Show c.261+6121_261+6122insTTTTTTTTTTG	AGFG1	ENSG00000173744.18	transcript	ENST00000310078.13	protein_coding	2/12			chr2	TogoVar
AGFG2_chr7_100534203_100573220	100551030	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	246	0.0041	11	c.431 others(26): Show c.431+519_431+520insATATATATATA	AGFG2	ENSG00000106351.13	transcript	ENST00000300176.9	protein_coding	3/11			chr7	TogoVar
AGMAT_chr1_15566699_15590051	15576740	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02895.hp2 NA19085.hp2 others(2): Show HG02683.hp1 HG02895.hp2 NA19085.hp2 NA19089.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0037 a0002c0001t0001 a0001c0002t0037 a0002c0001t0001	a0001c0002t0037g0177 a0002c0001t0001g0214 a0002c0001t0001g0215 others(2): Show a0001c0002t0037g0177 a0002c0001t0001g0214 a0002c0001t0001g0215 a0002c0001t0001g0253 a0002c0001t0001g0267	5	390	0.0128	11	c.900 others(26): Show c.900+934_900+944dupAAAAAAAAAAA	AGMAT	ENSG00000116771.6	transcript	ENST00000375826.4	protein_coding	5/6			chr1	TogoVar
AGMAT_chr1_15566699_15590051	15582669	C C	CTCTTTGC others(4): Show CTCTTTGCAGTT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0210 a0002c0001t0001g0210	1	390	0.0026	11	c.475 others(26): Show c.475+513_475+523dupAACTGCAAAGA	AGMAT	ENSG00000116771.6	transcript	ENST00000375826.4	protein_coding	2/6			chr1	TogoVar
AGMO_chr7_15195317_15567015	15232827	A A	ACACACAC others(4): Show ACACACACACAC	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	236	0.0042	11	c.126 others(32): Show c.1264-31469_1264-31468insGTGTGTGTGTG	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15259899	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02647.hp2 HG02818.hp1 others(5): Show HG02258.hp2 HG02647.hp2 HG02818.hp1 HG03098.hp2 HG03471.hp1 NA19064.hp1 NA20300.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0011 others(1): Show a0001c0001 a0001c0003 a0001c0011 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0003t0008 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0008 a0001c0011t0001 a0003c0006t0004	a0001c0001t0001g0035 a0001c0001t0002g0107 a0001c0001t0002g0117 others(5): Show a0001c0001t0001g0035 a0001c0001t0002g0107 a0001c0001t0002g0117 a0001c0001t0002g0178 a0001c0003t0008g0118 a0001c0003t0008g0211 a0001c0011t0001g0050 a0003c0006t0004g0076	8	236	0.0339	11	c.126 others(32): Show c.1264-58551_1264-58541dupTTTTTTTTTTT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15270596	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0217 a0002c0002t0007g0217	1	236	0.0042	11	c.126 others(32): Show c.1264-69248_1264-69238dupAAAAAAAAAAA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15342172	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	236	0.0042	11	c.126 others(32): Show c.1263+23331_1263+23341dupTTTTTTTTTTT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15342801	A A	AAAAAAAA others(4): Show AAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03471.hp2 HG02886.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0001 a0001c0001t0004 a0001c0003t0001	a0001c0001t0004g0184 a0001c0003t0001g0068 a0001c0001t0004g0184 a0001c0003t0001g0068	2	236	0.0085	11	c.126 others(32): Show c.1263+22712_1263+22713insGTTTTTTTTTT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15365380	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	236	0.0042	11	c.126 others(28): Show c.1263+123_1263+133dupTTTTTTTTTTT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15459596	C C	CTGTGTGT others(4): Show CTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	236	0.0042	11	c.410 others(30): Show c.410-28489_410-28488insACACACACACA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15493361	A A	ACACACAC others(4): Show ACACACACACTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0204 a0001c0001t0003g0204	1	236	0.0042	11	c.409 others(30): Show c.409+51410_409+51411insAAGTGTGTGTG	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15493362	C C	CACACACA others(4): Show CACACACACACA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0011 a0004c0008t0011	a0004c0008t0011g0226 a0004c0008t0011g0226	1	236	0.0042	11	c.409 others(30): Show c.409+51409_409+51410insTGTGTGTGTGT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15529680	A A	ATATATAG others(4): Show ATATATAGAATG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0016 a0016	a0016c0022 a0016c0022	a0016c0022t0004 a0016c0022t0004	a0016c0022t0004g0020 a0016c0022t0004g0020	1	236	0.0042	11	c.409 others(30): Show c.409+15091_409+15092insCATTCTATATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15531476	C C	CTATATAT others(4): Show CTATATATATAT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	236	0.0042	11	c.409 others(30): Show c.409+13295_409+13296insATATATATATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)