JoGo: Joint Open Genome and Omics Platform

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 (≤).

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⚠️ 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
ELMO1_chr7_36847906_37453864	37092366	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA18906.hp2 HG03579.hp1 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0007 a0001c0003t0002 a0001c0002t0007 a0001c0003t0002	a0001c0002t0007g0064 a0001c0003t0002g0076 a0001c0002t0007g0064 a0001c0003t0002g0076	2	92	0.0217	-11	c.130 others(30): Show c.1300+4242_1300+4252delAAAAAAAAAAA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	15/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	37291944	CTCTGCCC others(4): Show CTCTGCCCACGG	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00741.hp2 HG01106.hp1 others(44): Show HG00735.hp2 HG00741.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01361.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02630.hp1 HG02818.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG03130.hp1 HG03453.hp1 HG03453.hp2 HG03492.hp1 HG03579.hp1 HG03579.hp2 HG03927.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18906.hp1 NA18970.hp2 NA19000.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0002c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0002 a0001c0003t0008 a0001c0006t0004 a0002c0008t0004	a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0022 others(44): Show a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0068 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0002g0002 a0001c0001t0002g0067 a0001c0001t0003g0017 a0001c0001t0003g0026 a0001c0001t0003g0065 a0001c0001t0003g0072 a0001c0001t0004g0036 a0001c0001t0004g0043 a0001c0001t0004g0046 a0001c0001t0004g0057 a0001c0001t0004g0063 a0001c0001t0004g0080 a0001c0001t0005g0011 a0001c0001t0005g0027 a0001c0001t0005g0073 a0001c0001t0006g0008 a0001c0001t0008g0092 a0001c0001t0010g0084 a0001c0001t0012g0066 a0001c0001t0014g0088 a0001c0001t0016g0060 a0001c0002t0001g0052 a0001c0002t0002g0033 a0001c0002t0002g0049 a0001c0002t0003g0028 a0001c0002t0003g0037 a0001c0002t0003g0051 a0001c0003t0002g0020 a0001c0003t0002g0035 a0001c0003t0002g0050 a0001c0003t0002g0076 a0001c0003t0002g0089 a0001c0003t0008g0045 a0001c0003t0008g0079 a0001c0006t0004g0058 a0002c0008t0004g0034	47	92	0.5109	-11	c.193 others(30): Show c.193-20073_193-20063delCCGTGGGCAGA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	4/21			chr7	TogoVar
ELMO3_chr16_67194131_67209004	67200405	CTGGTCCT others(4): Show CTGGTCCTGGGG	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03139.hp1 HG03540.hp1 HG02257.hp2 HG03139.hp1 HG03540.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0016 a0003c0008t0001g0030 a0003c0008t0001g0016 a0003c0008t0001g0030	3	328	0.0092	-11	c.414 others(24): Show c.414-37_414-27delGGGTGGTCCTG	ELMO3	ENSG00000102890.16	transcript	ENST00000393997.8	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr16	TogoVar
ELMO3_chr16_67194131_67209004	67203028	GGGCAGAG others(4): Show GGGCAGAGGGCA	G G	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02155.hp2 HG02886.hp1 others(6): Show HG02135.hp2 HG02155.hp2 HG02886.hp1 NA18747.hp2 NA18964.hp1 NA18966.hp1 NA18983.hp2 NA19064.hp1 NA19085.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0001 a0004c0004t0001 a0003c0003t0001 a0004c0004t0001	a0003c0003t0001g0026 a0004c0004t0001g0007 a0003c0003t0001g0026 a0004c0004t0001g0007	9	328	0.0274	-11	c.167 others(26): Show c.1675+46_1675+56delAGGCAGAGGGC	ELMO3	ENSG00000102890.16	transcript	ENST00000393997.8	protein_coding	16/19		INFO_REALIGN_3_PRIME	chr16	TogoVar
ELMOD1_chr11_107586147_107671779	107669971	AAAAAAAA others(4): Show AAAAAAAAAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG03834.hp1 NA18983.hp2 HG02451.hp2 HG03834.hp1 NA18983.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0011 a0001c0002t0033 a0001c0002t0005 a0001c0002t0011 a0001c0002t0033	a0001c0002t0005g0246 a0001c0002t0011g0037 a0001c0002t0033g0251 a0001c0002t0005g0246 a0001c0002t0011g0037 a0001c0002t0033g0251	3	342	0.0088	-11	c.47 others(22): Show c.4775_*4785delAAAAAAAAAAG	ELMOD1	ENSG00000110675.13	transcript	ENST00000265840.12	protein_coding		3193		chr11	TogoVar
ELMOD3_chr2_85349769_85396748	85358279	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0335 a0001c0001t0001g0335	1	386	0.0026	-11	c.54+ others(26): Show c.54+1037_54+1047delAAAAAAAAAAA	ELMOD3	ENSG00000115459.18	transcript	ENST00000409013.8	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ELN_chr7_74023173_74074907	74051251	TCCCAGTG others(4): Show TCCCAGTGGAGG	T T	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	366	0.0027	-11	c.800 others(26): Show c.800-495_800-485delAGTGGAGGCCC	ELN	ENSG00000049540.19	transcript	ENST00000252034.12	protein_coding	15/32		INFO_REALIGN_3_PRIME	chr7	TogoVar
ELOA_chr1_23738471_23767059	23758251	ATTTATTT others(4): Show ATTTATTTATTT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03491.hp1 HG03834.hp1 others(1): Show HG01261.hp2 HG03491.hp1 HG03834.hp1 HG04204.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0017 a0002c0003t0001g0017 a0001c0001t0001g0017 a0002c0003t0001g0017	4	400	0.0100	-11	c.225 others(30): Show c.2257+1130_2257+1140delATTTATTTTTT	ELOA	ENSG00000011007.13	transcript	ENST00000613537.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELOA_chr1_23738471_23767059	23765206	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00423.hp2 others(24): Show HG00099.hp2 HG00408.hp2 HG00423.hp2 HG00609.hp1 HG00609.hp2 HG01109.hp2 HG01516.hp1 HG02109.hp1 HG02155.hp1 HG02165.hp2 HG02572.hp1 HG02896.hp2 HG02897.hp1 HG03471.hp2 HG03491.hp1 NA18747.hp1 NA18945.hp1 NA18945.hp2 NA18952.hp2 NA18957.hp1 NA18957.hp2 NA18967.hp1 NA18971.hp2 NA18986.hp2 NA19043.hp1 NA19057.hp1 NA20129.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0002c0003 a0003c0004 others(2): Show a0001c0001 a0002c0003 a0003c0004 a0003c0011 a0008c0015	a0001c0001t0001 a0001c0001t0009 a0002c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0009 a0002c0003t0001 a0003c0004t0003 a0003c0011t0010 a0008c0015t0019	a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0029 others(20): Show a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0169 a0001c0001t0001g0182 a0001c0001t0001g0190 a0001c0001t0001g0200 a0001c0001t0009g0123 a0002c0003t0001g0010 a0002c0003t0001g0016 a0002c0003t0001g0017 a0002c0003t0001g0028 a0002c0003t0001g0157 a0002c0003t0001g0172 a0002c0003t0001g0173 a0003c0004t0003g0061 a0003c0004t0003g0064 a0003c0011t0010g0052 a0008c0015t0019g0201	27	400	0.0675	-11	c.56 others(22): Show c.5634_*5644delTTTTTTTTTTT	ELOA	ENSG00000011007.13	transcript	ENST00000613537.5	protein_coding		3148		chr1	TogoVar
ELOC_chr8_73940119_73977191	73968546	GAAAGATA others(4): Show GAAAGATAGGCT	G G	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	404	0.0025	-11	c.-51 others(28): Show c.-51+3520_-51+3530delAGCCTATCTTT	ELOC	ENSG00000154582.18	transcript	ENST00000520242.6	protein_coding	1/3			chr8	TogoVar
ELOC_chr8_73940119_73977191	73970858	ACAAAACA others(4): Show ACAAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02280.hp2 HG01081.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	2	404	0.0050	-11	c.-51 others(28): Show c.-51+1208_-51+1218delGTTTTGTTTTG	ELOC	ENSG00000154582.18	transcript	ENST00000520242.6	protein_coding	1/3			chr8	TogoVar
ELOC_chr8_73940119_73977191	73976049	AGGCGGCA others(4): Show AGGCGGCAGGCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01258.hp2 HG01884.hp2 others(37): Show HG01074.hp2 HG01258.hp2 HG01884.hp2 HG02004.hp1 HG02071.hp1 HG02145.hp1 HG02165.hp1 HG02572.hp1 HG02615.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02818.hp1 HG02922.hp1 HG02965.hp1 HG03098.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG04199.hp1 NA18942.hp1 NA18948.hp2 NA18950.hp1 NA18962.hp1 NA18964.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp1 NA18989.hp2 NA18997.hp2 NA18999.hp2 NA19068.hp1 NA19084.hp1 NA19088.hp2 NA20129.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(29): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0001g0207 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0235 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0002g0060 a0001c0001t0002g0079 a0001c0001t0002g0095 a0001c0001t0003g0121	40	404	0.0990	-11	c.-40 others(22): Show c.-4034_-4024delCGCCTGCCGCC	ELOC	ENSG00000154582.18	transcript	ENST00000520242.6	protein_coding		3859		chr8	TogoVar
ELOF1_chr19_11548046_11564230	11550882	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG04184.hp2 HG03688.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0085 a0001c0001t0002g0002 a0001c0001t0002g0085	2	412	0.0049	-11	c.28 others(22): Show c.2853_*2863delTTTTTTTTTTT	ELOF1	ENSG00000130165.11	transcript	ENST00000252445.8	protein_coding		2163		chr19	TogoVar
ELOVL2_chr6_10975759_11049305	10977937	GCTCTTCC others(4): Show GCTCTTCCTCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	380	0.0026	-11	c.58 others(22): Show c.5833_*5843delGGGAGGAAGAG	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding		2821		chr6	TogoVar
ELOVL2_chr6_10975759_11049305	10993857	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03471.hp2 NA18906.hp1 others(2): Show HG03139.hp2 HG03471.hp2 NA18906.hp1 NA18993.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0029 a0001c0001t0003 a0001c0001t0008 a0001c0001t0029	a0001c0001t0003g0327 a0001c0001t0003g0333 a0001c0001t0008g0281 others(2): Show a0001c0001t0003g0327 a0001c0001t0003g0333 a0001c0001t0008g0281 a0001c0001t0008g0282 a0001c0001t0029g0347	5	380	0.0132	-11	c.505 others(28): Show c.505+1139_505+1149delAAAAAAAAAAA	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding	5/7			chr6	TogoVar
ELOVL2_chr6_10975759_11049305	11029057	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0347 a0001c0001t0029g0347	1	380	0.0026	-11	c.3+1 others(26): Show c.3+15160_3+15170delTTTTTTTTTTT	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding	1/7			chr6	TogoVar
ELOVL4_chr6_79909814_79952553	79921459	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01168.hp2 others(8): Show HG01070.hp1 HG01071.hp1 HG01168.hp2 HG01169.hp2 HG01346.hp1 HG02027.hp2 HG02818.hp1 HG03688.hp2 HG04228.hp2 NA19043.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0113 others(3): Show a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0113 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0176	11	354	0.0311	-11	c.541 others(26): Show c.541+155_541+165delTTTTTTTTTTT	ELOVL4	ENSG00000118402.6	transcript	ENST00000369816.5	protein_coding	4/5			chr6	TogoVar
ELOVL5_chr6_53262404_53353950	53275613	GGAAAACC others(4): Show GGAAAACCATCT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02630.hp1 HG02723.hp1 others(2): Show HG02258.hp2 HG02630.hp1 HG02723.hp1 HG02976.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(2): Show a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025	5	320	0.0156	-11	c.325 others(26): Show c.325-363_325-353delAGATGGTTTTC	ELOVL5	ENSG00000012660.14	transcript	ENST00000304434.11	protein_coding	4/7			chr6	TogoVar
ELOVL6_chr4_110040846_110203615	110048705	TGTTTTGT others(4): Show TGTTTTGTTTTA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00438.hp1 HG01175.hp1 HG02055.hp1 others(19): Show HG00438.hp1 HG01175.hp1 HG02055.hp1 HG02056.hp2 HG02083.hp2 HG02148.hp2 HG02155.hp1 HG03239.hp2 HG03669.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp1 NA18612.hp2 NA18942.hp1 NA18945.hp2 NA18955.hp2 NA18968.hp1 NA18982.hp1 NA18999.hp1 NA19077.hp1 NA19084.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0042 a0001c0001t0060 others(1): Show a0001c0001t0005 a0001c0001t0042 a0001c0001t0060 a0001c0001t0071	a0001c0001t0005g0005 a0001c0001t0005g0062 a0001c0001t0005g0086 others(19): Show a0001c0001t0005g0005 a0001c0001t0005g0062 a0001c0001t0005g0086 a0001c0001t0005g0091 a0001c0001t0005g0092 a0001c0001t0005g0123 a0001c0001t0005g0134 a0001c0001t0005g0162 a0001c0001t0005g0192 a0001c0001t0005g0197 a0001c0001t0005g0201 a0001c0001t0005g0202 a0001c0001t0005g0215 a0001c0001t0005g0225 a0001c0001t0005g0262 a0001c0001t0005g0285 a0001c0001t0005g0312 a0001c0001t0005g0323 a0001c0001t0005g0325 a0001c0001t0042g0058 a0001c0001t0060g0311 a0001c0001t0071g0075	22	338	0.0651	-11	c.26 others(22): Show c.2622_*2632delTAAAACAAAAC	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	4/4	2622		chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084586	ATATTTTT others(4): Show ATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01496.hp1 HG02040.hp2 HG00280.hp1 HG01496.hp1 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0139 a0001c0001t0004g0141 a0001c0001t0004g0304 a0001c0001t0004g0139 a0001c0001t0004g0141 a0001c0001t0004g0304	3	338	0.0089	-11	c.221 others(30): Show c.221+20900_221+20910delAAAAAAAAATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084588	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18951.hp2 NA18971.hp2 others(4): Show HG02056.hp1 NA18951.hp2 NA18971.hp2 NA18978.hp1 NA19009.hp1 NA19012.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0186 a0001c0001t0004g0176 a0001c0001t0004g0190 others(4): Show a0001c0001t0001g0186 a0001c0001t0004g0176 a0001c0001t0004g0190 a0001c0001t0004g0206 a0001c0001t0004g0212 a0001c0001t0004g0258 a0001c0001t0004g0315	7	338	0.0207	-11	c.221 others(30): Show c.221+20898_221+20908delAAAAAAAAAAA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110110401	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA19030.hp2 HG03471.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0226 a0001c0001t0015g0227 a0001c0001t0001g0226 a0001c0001t0015g0227	2	338	0.0059	-11	c.90- others(26): Show c.90-4784_90-4774delAAAAAAAAAAA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110120798	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0084 a0001c0001t0003g0084	1	338	0.0030	-11	c.90- others(28): Show c.90-15181_90-15171delAAAAAAAAAAA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110158647	ATATATAT others(4): Show ATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03195.hp2 HG02922.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0034 a0001c0001t0002 a0001c0001t0034	a0001c0001t0002g0061 a0001c0001t0034g0026 a0001c0001t0002g0061 a0001c0001t0034g0026	2	338	0.0059	-11	c.89+ others(28): Show c.89+39589_89+39599delATATATATATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110186813	AAAAAAAA others(4): Show AAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0150 a0001c0001t0014g0150	1	338	0.0030	-11	c.89+ others(28): Show c.89+11423_89+11433delATTTTTTTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110200756	ACTGGGCA others(4): Show ACTGGGCAACAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0026 a0001c0001t0034g0026	1	338	0.0030	-11	c.-24 others(22): Show c.-2432_-2422delATGTTGCCCAG	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding		2142		chr4	TogoVar
ELOVL7_chr5_60746791_60849269	60837313	GGTGGGGG others(4): Show GGTGGGGGGGGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0172 a0001c0001t0003g0172	1	258	0.0039	-11	c.-86 others(28): Show c.-86+6836_-86+6846delTCCCCCCCCAC	ELOVL7	ENSG00000164181.14	transcript	ENST00000508821.6	protein_coding	1/8			chr5	TogoVar
ELOVL7_chr5_60746791_60849269	60837322	GGAGTGGG others(4): Show GGAGTGGGGGGT	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0130 a0001c0001t0020g0130	1	258	0.0039	-11	c.-86 others(28): Show c.-86+6827_-86+6837delACCCCCCACTC	ELOVL7	ENSG00000164181.14	transcript	ENST00000508821.6	protein_coding	1/8			chr5	TogoVar
ELOVL7_chr5_60746791_60849269	60841468	CTTATCCT others(4): Show CTTATCCTTTTG	C C	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0036 a0001c0001t0007g0036	1	258	0.0039	-11	c.-86 others(28): Show c.-86+2681_-86+2691delCAAAAGGATAA	ELOVL7	ENSG00000164181.14	transcript	ENST00000508821.6	protein_coding	1/8			chr5	TogoVar
ELP1_chr9_108862517_108939124	108872803	TGAAAAAA others(4): Show TGAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0005 a0004c0007t0005	a0004c0007t0005g0278 a0004c0007t0005g0278	1	416	0.0024	-11	c.393 others(30): Show c.3931+2081_3931+2091delTTTTTTTTTTC	ELP1	ENSG00000070061.16	transcript	ENST00000374647.10	protein_coding	36/36			chr9	TogoVar
ELP1_chr9_108862517_108939124	108872804	GAAAAAAA others(4): Show GAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG01106.hp1 others(4): Show HG00099.hp1 HG00140.hp1 HG01106.hp1 HG01358.hp1 HG03239.hp1 HG03704.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0219 a0001c0002t0006g0220 a0001c0002t0006g0221 others(4): Show a0001c0002t0006g0219 a0001c0002t0006g0220 a0001c0002t0006g0221 a0001c0002t0006g0229 a0001c0002t0006g0230 a0001c0002t0006g0231 a0001c0002t0006g0248	7	416	0.0168	-11	c.393 others(30): Show c.3931+2080_3931+2090delTTTTTTTTTTT	ELP1	ENSG00000070061.16	transcript	ENST00000374647.10	protein_coding	36/36			chr9	TogoVar
ELP2_chr18_36124899_36185557	36179475	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0073 a0003c0003t0073	a0003c0003t0073g0199 a0003c0003t0073g0199	1	378	0.0027	-11	c.48 others(22): Show c.4850_*4860delAAAAAAAAAAA	ELP2	ENSG00000134759.14	transcript	ENST00000358232.11	protein_coding	22/22	4850	INFO_REALIGN_3_PRIME	chr18	TogoVar
ELP3_chr8_28088139_28196153	28095073	CCTGTTAG others(4): Show CCTGTTAGAAAG	C C	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18995.hp1 NA19004.hp1 NA18978.hp2 NA18995.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0001g0237	3	398	0.0075	-11	c.19+ others(26): Show c.19+1844_19+1854delTTAGAAAGCTG	ELP3	ENSG00000134014.18	transcript	ENST00000256398.13	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
ELP3_chr8_28088139_28196153	28108457	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA18963.hp1 NA19000.hp1 HG02080.hp2 NA18963.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115	3	398	0.0075	-11	c.393 others(26): Show c.393+489_393+499delTTTTTTTTTTT	ELP3	ENSG00000134014.18	transcript	ENST00000256398.13	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
ELP3_chr8_28088139_28196153	28119569	GTTTTATA others(4): Show GTTTTATATATA	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	398	0.0025	-11	c.617 others(28): Show c.617+6398_617+6408delTTTATATATAT	ELP3	ENSG00000134014.18	transcript	ENST00000256398.13	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
ELP4_chr11_31504767_31795324	31790097	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0111 a0001c0001t0056g0111	1	270	0.0037	-11	c.65 others(22): Show c.6586_*6596delAAAAAAAAAAA	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	10/10	6586	INFO_REALIGN_3_PRIME	chr11	TogoVar
ELP5_chr17_7247215_7264937	7258811	CCTTTGTA others(4): Show CCTTTGTACCTA	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	412	0.0024	-11	c.688 others(23): Show c.688-13_688-3delTTTGTACCTAC	ELP5	ENSG00000170291.16	transcript	ENST00000396628.7	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr17	TogoVar
ELSPBP1_chr19_47989632_48030154	48016516	CTTTCTTT others(4): Show CTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	388	0.0026	-11	c.355 others(26): Show c.355+478_355+488delTTTCTTTCTTT	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	4/6			chr19	TogoVar
ELSPBP1_chr19_47989632_48030154	48016517	TTTCTTTC others(4): Show TTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	388	0.0026	-11	c.355 others(26): Show c.355+482_355+492delTTTCTTTCTTC	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
EMC10_chr19_50471507_50495871	50479672	TGGTGGCC others(4): Show TGGTGGCCACGC	T T	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0056 a0001c0001t0046g0056	1	352	0.0028	-11	c.298 others(26): Show c.298-434_298-424delGCCACGCGGTG	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
EMC10_chr19_50471507_50495871	50484018	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0074 a0001c0002t0074	a0001c0002t0074g0027 a0001c0002t0074g0027	1	352	0.0028	-11	c.17 others(22): Show c.1776_*1786delTTTTTTTTTTT	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding	7/7	1776	INFO_REALIGN_3_PRIME	chr19	TogoVar
EMC1_chr1_19210660_19256524	19250218	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01255.hp1 HG01346.hp2 others(3): Show HG00099.hp2 HG01255.hp1 HG01346.hp2 HG03017.hp2 HG03834.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0004 a0002c0002t0001 a0003c0003t0004 a0001c0001t0004 a0002c0002t0001 a0003c0003t0004	a0001c0001t0004g0062 a0002c0002t0001g0061 a0003c0003t0004g0009 others(1): Show a0001c0001t0004g0062 a0002c0002t0001g0061 a0003c0003t0004g0009 a0003c0003t0004g0063	6	350	0.0171	-11	c.95+ others(26): Show c.95+1186_95+1196delTTTTTTTTTTT	EMC1	ENSG00000127463.16	transcript	ENST00000477853.6	protein_coding	1/22			chr1	TogoVar
EMC2_chr8_108438624_108494196	108449519	ACCTTGGG others(4): Show ACCTTGGGCTCC	A A	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	364	0.0028	-11	c.41- others(24): Show c.41-302_41-292delCTTGGGCTCCC	EMC2	ENSG00000104412.8	transcript	ENST00000220853.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
EMC3_chr3_9957682_9991841	9978145	TAAAAAAA others(4): Show TAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01175.hp2 HG01258.hp1 others(4): Show HG00558.hp1 HG01175.hp2 HG01258.hp1 HG02683.hp1 HG02698.hp1 NA18747.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0020 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0020 a0001c0001t0050 a0001c0001t0052	a0001c0001t0001g0129 a0001c0001t0001g0220 a0001c0001t0007g0121 others(3): Show a0001c0001t0001g0129 a0001c0001t0001g0220 a0001c0001t0007g0121 a0001c0001t0020g0009 a0001c0001t0050g0238 a0001c0001t0052g0239	7	322	0.0217	-11	c.156 others(26): Show c.156-710_156-700delTTTTTTTTTTT	EMC3	ENSG00000125037.13	transcript	ENST00000245046.7	protein_coding	1/7			chr3	TogoVar
EMC6_chr17_3663812_3674665	3665740	TCCAAAAA others(4): Show TCCAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA19007.hp2 NA19089.hp1 NA18955.hp2 NA19007.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	414	0.0073	-11	c.-32 others(22): Show c.-3208_-3198delCCAAAAAAAAA	EMC6	ENSG00000127774.7	transcript	ENST00000248378.6	protein_coding		3071		chr17	TogoVar
EMC9_chr14_24133965_24146591	24137830	AGTCAAAC others(4): Show AGTCAAACCATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02970.hp1 HG03130.hp2 others(4): Show HG02055.hp1 HG02970.hp1 HG03130.hp2 HG03209.hp1 NA18522.hp1 NA18522.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0033 a0001c0001t0001g0007 a0001c0001t0001g0033	7	422	0.0166	-11	c.11 others(22): Show c.1169_*1179delAATGGTTTGAC	EMC9	ENSG00000100908.14	transcript	ENST00000216799.9	protein_coding		1134		chr14	TogoVar
EMCN_chr4_100390341_100523022	100473365	GTTTTTTT others(4): Show GTTTTTTTGTTT	G G	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	262	0.0038	-11	c.259 others(28): Show c.259+1662_259+1672delAAACAAAAAAA	EMCN	ENSG00000164035.10	transcript	ENST00000296420.9	protein_coding	3/11			chr4	TogoVar
EMCN_chr4_100390341_100523022	100473375	TTTTTTTT others(4): Show TTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02630.hp2 HG02809.hp2 HG02257.hp2 HG02630.hp2 HG02809.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0006 a0001c0004 a0002c0006	a0001c0004t0004 a0002c0006t0004 a0001c0004t0004 a0002c0006t0004	a0001c0004t0004g0248 a0001c0004t0004g0249 a0002c0006t0004g0048 a0001c0004t0004g0248 a0001c0004t0004g0249 a0002c0006t0004g0048	3	262	0.0115	-11	c.259 others(28): Show c.259+1652_259+1662delCAAAAAAAAAA	EMCN	ENSG00000164035.10	transcript	ENST00000296420.9	protein_coding	3/11			chr4	TogoVar
EME1_chr17_50368229_50386483	50372561	TTAAATGT others(4): Show TTAAATGTTATC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0052 a0004c0004t0001g0052	1	384	0.0026	-11	c.-74 others(20): Show c.-740_-730delTAAATGTTATC	EME1	ENSG00000154920.15	transcript	ENST00000338165.9	protein_coding		667		chr17	TogoVar
EMG1_chr12_6965913_6984936	6967152	GCTGGGCT others(4): Show GCTGGGCTGACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	338	0.0030	-11	c.-37 others(22): Show c.-3771_-3761delCTGGGCTGACA	EMG1	ENSG00000126749.17	transcript	ENST00000599672.6	protein_coding		3760		chr12	TogoVar

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Search Results (Total: 10000 hits)