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 (≤).

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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
LCLAT1_chr2_30442246_30649225	30643121	T T	TCACCTCA others(18): Show TCACCTCACCTCACCTCACCGCACCG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0321 a0001c0001t0057g0321	1	366	0.0027	25	c.25 others(36): Show c.2505_*2506insCTCACCTCACCTCACCGCACCGCAC	LCLAT1	ENSG00000172954.14	transcript	ENST00000379509.8	protein_coding	6/6	2506	INFO_REALIGN_3_PRIME	chr2	TogoVar
LCMT2_chr15_43318649_43335573	43334664	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp1 HG02080.hp1 HG03490.hp1 others(1): Show HG01258.hp1 HG02080.hp1 HG03490.hp1 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009	a0001c0001t0002g0000 a0001c0001t0004g0000 a0001c0001t0008g0000 others(1): Show a0001c0001t0002g0000 a0001c0001t0004g0000 a0001c0001t0008g0000 a0001c0001t0009g0000	4	410	0.0098	25	c.-41 others(36): Show c.-4176_-4175insTATATATATATATATATATATATAT	LCMT2	ENSG00000168806.8	transcript	ENST00000305641.7	protein_coding		4092		chr15	TogoVar
LCN15_chr9_136754634_136769518	136769269	T T	TCCATGCA others(18): Show TCCATGCACTGCCCCCCGCCACCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01109.hp2 HG01257.hp2 others(13): Show HG01099.hp2 HG01109.hp2 HG01257.hp2 HG01258.hp2 HG01361.hp2 HG01433.hp2 HG01943.hp1 HG02922.hp2 HG03491.hp1 HG03492.hp2 HG03942.hp2 HG04184.hp2 HG06807.hp1 NA18971.hp1 NA20805.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0002 a0002c0002t0001g0004	16	356	0.0449	25	c.-47 others(36): Show c.-4782_-4781insGGGGGTGGCGGGGGGCAGTGCATGG	LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding		4752		chr9	TogoVar
LCN15_chr9_136754634_136769518	136769298	A A	ATGCACTG others(18): Show ATGCACTGCCCCCCCGCCACCCCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	356	0.0028	25	c.-48 others(36): Show c.-4811_-4810insGGCGGGGTGGCGGGGGGGCAGTGCA	LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding		4781		chr9	TogoVar
LCOR_chr10_96827298_97000956	96970598	C C	CATTTTAT others(18): Show CATTTTATTTTATTTTATTTTATTTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0041 a0005c0006t0041	a0005c0006t0041g0163 a0005c0006t0041g0163	1	288	0.0035	25	c.333 others(44): Show c.333-10190_333-10166dupTATTTTATTTTATTTTATTTTATTT	LCOR	ENSG00000196233.14	transcript	ENST00000421806.4	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
LDLRAD2_chr1_21807265_21830225	21819518	T T	TATAAATT others(18): Show TATAAATTTATAAATTTATAAATTAC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0246 a0001c0001t0029g0246	1	454	0.0022	25	c.644 others(42): Show c.644-1932_644-1931insATAAATTTATAAATTTATAAATTAC	LDLRAD2	ENSG00000187942.12	transcript	ENST00000344642.7	protein_coding	3/4			chr1	TogoVar
LDLRAD3_chr11_35939062_36237136	36146773	C C	CTTTATTT others(18): Show CTTTATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00639.hp1 HG00741.hp1 others(60): Show HG00597.hp1 HG00639.hp1 HG00741.hp1 HG01070.hp1 HG01109.hp1 HG01167.hp1 HG01175.hp2 HG01192.hp1 HG01256.hp2 HG01258.hp2 HG01517.hp2 HG01891.hp1 HG01934.hp1 HG02004.hp2 HG02027.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02486.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02723.hp2 HG02735.hp2 HG02886.hp2 HG02965.hp1 HG03486.hp2 HG03669.hp2 HG03710.hp1 HG03831.hp1 HG04204.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18949.hp1 NA18951.hp1 NA18952.hp1 NA18957.hp2 NA18965.hp2 NA18975.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA19002.hp1 NA19012.hp2 NA19056.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19079.hp2 NA19085.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0007	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0006c0007 a0007c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0016 a0001c0001t0019 a0001c0001t0024 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0008 a0001c0002t0009 a0001c0002t0017 a0002c0003t0001 a0006c0007t0001 a0007c0008t0001	a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0030 others(60): Show a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0030 a0001c0001t0001g0046 a0001c0001t0001g0056 a0001c0001t0001g0065 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0135 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0002g0104 a0001c0001t0002g0107 a0001c0001t0002g0122 a0001c0001t0003g0029 a0001c0001t0003g0051 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0111 a0001c0001t0003g0153 a0001c0001t0003g0177 a0001c0001t0005g0181 a0001c0001t0005g0200 a0001c0001t0006g0221 a0001c0001t0007g0053 a0001c0001t0009g0007 a0001c0001t0010g0108 a0001c0001t0016g0034 a0001c0001t0019g0098 a0001c0001t0024g0141 a0001c0002t0001g0067 a0001c0002t0001g0081 a0001c0002t0001g0083 a0001c0002t0001g0102 a0001c0002t0001g0113 a0001c0002t0001g0130 a0001c0002t0001g0160 a0001c0002t0001g0167 a0001c0002t0001g0176 a0001c0002t0001g0183 a0001c0002t0001g0202 a0001c0002t0002g0026 a0001c0002t0003g0110 a0001c0002t0004g0155 a0001c0002t0008g0011 a0001c0002t0009g0206 a0001c0002t0017g0182 a0002c0003t0001g0228 a0002c0003t0001g0229 a0006c0007t0001g0223 a0007c0008t0001g0032	63	236	0.2670	25	c.454 others(44): Show c.454+48314_454+48338dupTTATTTTATTTTATTTTATTTTATT	LDLRAD3	ENSG00000179241.13	transcript	ENST00000315571.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr11	TogoVar
LDLRAD4_chr18_13213760_13657751	13578827	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01515.hp1 HG03669.hp1 others(2): Show HG01192.hp1 HG01515.hp1 HG03669.hp1 HG03831.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0026 a0001c0001t0041	a0001c0001t0002g0062 a0001c0001t0003g0094 a0001c0001t0004g0096 others(2): Show a0001c0001t0002g0062 a0001c0001t0003g0094 a0001c0001t0004g0096 a0001c0001t0026g0162 a0001c0001t0041g0029	5	178	0.0281	25	c.182 others(44): Show c.182-42286_182-42262dupTTTTTTTTTTTTTTTTTTTTTTTTT	LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
LDLRAD4_chr18_13213760_13657751	13610305	T T	TTTTTTTT others(18): Show TTTTTTTTTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0153 a0001c0001t0004g0153	1	178	0.0056	25	c.182 others(44): Show c.182-10812_182-10811insTTTTTTTTTTTTTTTTTTTTTTTTC	LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	4/6			chr18	TogoVar
LEF1_chr4_108042548_108173932	108132659	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	264	0.0038	25	c.414 others(44): Show c.414+30884_414+30908dupAAAAAAAAAAAAAAAAAAAAAAAAA	LEF1	ENSG00000138795.10	transcript	ENST00000265165.6	protein_coding	3/11			chr4	TogoVar
LEO1_chr15_51933025_51976778	51934711	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	388	0.0026	25	c.34 others(36): Show c.3444_*3445insTTTTTTTTTTTTTTTTTTTTTTTTT	LEO1	ENSG00000166477.13	transcript	ENST00000299601.10	protein_coding		3313		chr15	TogoVar
LEXM_chr1_54801063_54847252	54817975	A A	ATCAATAG others(18): Show ATCAATAGTTTGGTTGGAAATAAAAT	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0232 a0001c0003t0003g0232	1	382	0.0026	25	c.118 others(42): Show c.1184+856_1184+880dupAATAGTTTGGTTGGAAATAAAATTC	LEXM	ENSG00000162398.12	transcript	ENST00000371273.4	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
LGALS2_chr22_37565248_37585087	37584679	A A	AATTTTAT others(18): Show AATTTTATTTTATTTTATTTTATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	460	0.0022	25	c.-47 others(36): Show c.-4775_-4774insAAAATAAAATAAAATAAAATAAAAT	LGALS2	ENSG00000100079.7	transcript	ENST00000215886.6	protein_coding		4593		chr22	TogoVar
LGALS9B_chr17_20444395_20472539	20468705	G G	GTAAGGGG others(18): Show GTAAGGGGAGCAGAAAGGAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0005 a0006c0015t0005	a0006c0015t0005g0101 a0006c0015t0005g0101	1	433	0.0023	25	c.-12 others(36): Show c.-1236_-1235insTTCTTTCTCCTTTCTGCTCCCCTTA	LGALS9B	ENSG00000170298.16	transcript	ENST00000423676.8	protein_coding		1167		chr17	TogoVar
LGMN_chr14_92698809_92753627	92751969	G G	GTGGGCTG others(18): Show GTGGGCTGAGAGCTCAAAGTGTGAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	420	0.0024	25	c.-35 others(36): Show c.-3511_-3510insGTTCACACTTTGAGCTCTCAGCCCA	LGMN	ENSG00000100600.15	transcript	ENST00000334869.9	protein_coding		3343		chr14	TogoVar
LGR4_chr11_27360961_27477790	27467566	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0014 a0001c0005t0014	a0001c0005t0014g0155 a0001c0005t0014g0155	1	244	0.0041	25	c.185 others(42): Show c.185+4551_185+4552insTTTTTTTTTTTTTTTTTTTTTTTTT	LGR4	ENSG00000205213.14	transcript	ENST00000379214.9	protein_coding	1/17			chr11	TogoVar
LHFPL2_chr5_78480230_78653772	78651583	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG01258.hp2 HG01928.hp1 others(2): Show HG00597.hp1 HG01258.hp2 HG01928.hp1 HG02083.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 a0001c0002t0014	a0001c0001t0001g0051 a0001c0001t0001g0071 a0001c0001t0006g0062 others(2): Show a0001c0001t0001g0051 a0001c0001t0001g0071 a0001c0001t0006g0062 a0001c0002t0002g0085 a0001c0002t0014g0089	5	254	0.0197	25	c.-34 others(36): Show c.-3435_-3434insTTTTTTTTTTTTTTTTTTTTTTTTT	LHFPL2	ENSG00000145685.14	transcript	ENST00000380345.7	protein_coding		2812		chr5	TogoVar
LHFPL4_chr3_9493361_9558822	9531801	G G	GAAAGAAA others(18): Show GAAAGAAAAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0074 a0001c0001t0034g0074	1	360	0.0028	25	c.406 others(44): Show c.406+20448_406+20472dupTCTTTTCTTTTCTTTTCTTTTCTTT	LHFPL4	ENSG00000156959.9	transcript	ENST00000287585.8	protein_coding	2/3			chr3	TogoVar
LHFPL4_chr3_9493361_9558822	9557441	G G	GAAAGAAA others(18): Show GAAAGAAAGAAAGAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0227 a0001c0001t0005g0227	1	360	0.0028	25	c.-39 others(36): Show c.-3926_-3925insTCTTTCTTTCTTTCTTTCTTTCTTT	LHFPL4	ENSG00000156959.9	transcript	ENST00000287585.8	protein_coding		3620		chr3	TogoVar
LHFPL4_chr3_9493361_9558822	9557473	G G	GAAAGAAA others(18): Show GAAAGAAAGAAAGAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	360	0.0028	25	c.-39 others(36): Show c.-3958_-3957insTCTTTCTTTCTTTCTTTCTTTCTTT	LHFPL4	ENSG00000156959.9	transcript	ENST00000287585.8	protein_coding		3652		chr3	TogoVar
LHFPL4_chr3_9493361_9558822	9557491	A A	AGAGAGAA others(18): Show AGAGAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	360	0.0028	25	c.-39 others(36): Show c.-3976_-3975insCTTTCTTTCTTTCTTTCTTTCTCTC	LHFPL4	ENSG00000156959.9	transcript	ENST00000287585.8	protein_coding		3670		chr3	TogoVar
LHPP_chr10_124456823_124619141	124506641	G G	GAGGTGGG others(18): Show GAGGTGGGGAGGGTAGGGAGGATTTC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	260	0.0039	25	c.624 others(42): Show c.624+8518_624+8542dupGGGGAGGGTAGGGAGGATTTCAGGT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124506684	A A	AGATTTCA others(18): Show AGATTTCAAGTGGGGTGGGTAAGGAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG02040.hp1 others(13): Show HG00323.hp2 HG00639.hp1 HG02040.hp1 HG02165.hp1 HG02486.hp1 HG02602.hp2 HG02698.hp2 HG03490.hp1 HG03492.hp2 HG03688.hp2 NA18747.hp1 NA18971.hp1 NA18990.hp1 NA19004.hp1 NA19057.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0018	a0001c0001t0001g0019 a0001c0001t0001g0057 a0001c0001t0001g0071 others(13): Show a0001c0001t0001g0019 a0001c0001t0001g0057 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0108 a0001c0001t0001g0119 a0001c0001t0001g0132 a0001c0001t0001g0148 a0001c0001t0001g0154 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0216 a0001c0001t0003g0076 a0001c0001t0003g0207 a0001c0001t0010g0042 a0001c0001t0018g0037	16	260	0.0615	25	c.624 others(42): Show c.624+8563_624+8564insAGTGGGGTGGGTAAGGAGGATTTCA	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124506806	G G	GAGGATTT others(18): Show GAGGATTTCAGGTGAGGGGGGTAGAC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0042 a0001c0001t0010g0042	1	260	0.0039	25	c.624 others(42): Show c.624+8691_624+8692insAGGGGGGTAGACAGGATTTCAGGTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124506889	T T	TGGGGGGA others(18): Show TGGGGGGATAGGGAGTATTTCAGGTG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01433.hp1 HG01943.hp2 others(1): Show HG00408.hp1 HG01433.hp1 HG01943.hp2 HG01981.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0014 a0002c0002t0001g0058 a0002c0002t0001g0078 others(1): Show a0002c0002t0001g0014 a0002c0002t0001g0058 a0002c0002t0001g0078 a0002c0002t0001g0129	4	260	0.0154	25	c.624 others(42): Show c.624+8761_624+8762insGGGGGGATAGGGAGTATTTCAGGTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6			chr10	TogoVar
LHPP_chr10_124456823_124619141	124506949	G G	GAGGATTT others(18): Show GAGGATTTTCAGTGTGGAGGGTAGAC	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	260	0.0039	25	c.624 others(42): Show c.624+8828_624+8829insTCAGTGTGGAGGGTAGACAGGATTT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507014	G G	GAGGTAGG others(18): Show GAGGTAGGGAGGATTTCAGGTGTGGA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0116 a0001c0001t0001g0117	2	260	0.0077	25	c.624 others(42): Show c.624+8886_624+8887insAGGTAGGGAGGATTTCAGGTGTGGA	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6			chr10	TogoVar
LHPP_chr10_124456823_124619141	124507014	G G	GGGATAGG others(18): Show GGGATAGGGAAGATTTCAGGTGTGGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02602.hp1 HG00140.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0017 a0001c0001t0004 a0001c0001t0017	a0001c0001t0004g0029 a0001c0001t0017g0025 a0001c0001t0004g0029 a0001c0001t0017g0025	2	260	0.0077	25	c.624 others(42): Show c.624+8888_624+8889insATAGGGAAGATTTCAGGTGTGGAGG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507279	T T	TGGGGGGG others(18): Show TGGGGGGGTAGGGAGGATTTCAGGTC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02895.hp2 HG02615.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0210 a0001c0001t0001g0211	2	260	0.0077	25	c.624 others(42): Show c.624+9175_624+9176insCGGGGGGGTAGGGAGGATTTCAGGT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507291	G G	GAGGATTT others(18): Show GAGGATTTCAGGTGTGGAGGGTAGAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	260	0.0039	25	c.624 others(42): Show c.624+9177_624+9201dupTGGAGGGTAGACAGGATTTCAGGTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507328	T T	TGGGGGGG others(18): Show TGGGGGGGTAGGGAGGATTTCAGGTG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	260	0.0039	25	c.624 others(42): Show c.624+9201_624+9225dupGGGGGGGTAGGGAGGATTTCAGGTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507332	G G	GGGATAGG others(18): Show GGGATAGGGAGTATTTCAGGTGGGGA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02698.hp1 HG02135.hp2 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0197 a0001c0001t0001g0063 a0001c0001t0001g0197	2	260	0.0077	25	c.624 others(42): Show c.624+9206_624+9207insATAGGGAGTATTTCAGGTGGGGAGG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507340	G G	GAGGATTT others(18): Show GAGGATTTCAGGTGTGGAGGGTAGAC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	260	0.0039	25	c.624 others(42): Show c.624+9226_624+9250dupTGGAGGGTAGACAGGATTTCAGGTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507389	G G	GAGGATTT others(18): Show GAGGATTTCAGGTGTGGAGGGTAGAC	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	260	0.0039	25	c.624 others(42): Show c.624+9263_624+9264insGATTTCAGGTGTGGAGGGTAGACAG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507403	G G	GGGGGGGT others(18): Show GGGGGGGTAGGGAGGATTTCAGGTGT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0014 a0002c0002t0001g0014	1	260	0.0039	25	c.624 others(42): Show c.624+9277_624+9278insGGGGTAGGGAGGATTTCAGGTGTGG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507674	G G	GGGGGGGT others(18): Show GGGGGGGTAGGGAGGATTTCAGGTGT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0078 a0002c0002t0001g0078	1	260	0.0039	25	c.625 others(42): Show c.625-9504_625-9503insGGGGTAGGGAGGATTTCAGGTGTGG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507722	T T	TGGGGGGG others(18): Show TGGGGGGGTAGGGAGGATTTCAGGTC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	260	0.0039	25	c.625 others(42): Show c.625-9434_625-9433insCGGGGGGGTAGGGAGGATTTCAGGT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507808	G G	GAGGATTT others(18): Show GAGGATTTCAGGTGTGGGGGGTAGAC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	260	0.0039	25	c.625 others(42): Show c.625-9356_625-9355insGGGGTAGACAGGATTTCAGGTGTGG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507825	A A	AGGGTAGA others(18): Show AGGGTAGACAGGATTTCAGGTCGGTG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02622.hp2 NA18906.hp1 HG01099.hp1 HG02622.hp2 NA18906.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0009 a0003c0003t0002g0011 a0003c0003t0002g0012 a0003c0003t0002g0009 a0003c0003t0002g0011 a0003c0003t0002g0012	3	260	0.0115	25	c.625 others(42): Show c.625-9335_625-9334insCGGTGGGGTAGACAGGATTTCAGGT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507857	G G	GAGGATTT others(18): Show GAGGATTTCAGGTCGGTGGGGTAGAC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 NA19240.hp1 HG02895.hp1 HG02897.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0239 a0001c0001t0001g0246 a0001c0001t0001g0247	3	260	0.0115	25	c.625 others(42): Show c.625-9311_625-9310insCGGTGGGGTAGACAGGATTTCAGGT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507873	G G	GGGGTAGA others(18): Show GGGGTAGACAGGATTTCAGGTGTGGA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	260	0.0039	25	c.625 others(42): Show c.625-9301_625-9300insACAGGATTTCAGGTGTGGAGGGTAG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LIFR_chr5_38469668_38561646	38517856	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01978.hp1 HG02148.hp1 others(1): Show HG00140.hp1 HG01978.hp1 HG02148.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0252 a0001c0001t0001g0258 others(1): Show a0001c0001t0001g0196 a0001c0001t0001g0252 a0001c0001t0001g0258 a0001c0001t0001g0267	4	374	0.0107	25	c.561 others(42): Show c.561+5538_561+5562dupTTTTTTTTTTTTTTTTTTTTTTTTT	LIFR	ENSG00000113594.10	transcript	ENST00000453190.7	protein_coding	5/19			chr5	TogoVar
LIG4_chr13_108202442_108220536	108207175	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	374	0.0027	25	c.13 others(36): Show c.1357_*1358insTTTTTTTTTTTTTTTTTTTTTTTTT	LIG4	ENSG00000174405.15	transcript	ENST00000442234.6	protein_coding		266		chr13	TogoVar
LILRA6_chr19_54231590_54247790	54246405	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0002 a0002c0002t0003g0002	1	450	0.0022	25	c.-36 others(36): Show c.-3655_-3654insTATATATATATATATATATATATAT	LILRA6	ENSG00000244482.11	transcript	ENST00000396365.7	protein_coding		3616		chr19	TogoVar
LILRB5_chr19_54244421_54262273	54246405	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0002 a0004c0009t0002	a0004c0009t0002g0016 a0004c0009t0002g0016	1	474	0.0021	25	c.43 others(36): Show c.4380_*4381insTATATATATATATATATATATATAT	LILRB5	ENSG00000105609.17	transcript	ENST00000449561.3	protein_coding		3015		chr19	TogoVar
LIMA1_chr12_50170788_50288520	50175363	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01069.hp1 HG01433.hp1 others(2): Show HG00642.hp1 HG01069.hp1 HG01433.hp1 NA18971.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0122 a0001c0001t0004g0134 a0001c0001t0004g0143 others(2): Show a0001c0001t0004g0122 a0001c0001t0004g0134 a0001c0001t0004g0143 a0001c0001t0004g0147 a0001c0001t0004g0154	5	294	0.0170	25	c.17 others(36): Show c.1700_*1701insTTTTTTTTTTTTTTTTTTTTTTTTT	LIMA1	ENSG00000050405.14	transcript	ENST00000341247.9	protein_coding		424		chr12	TogoVar
LIMA1_chr12_50170788_50288520	50193606	A A	ATGTATAT others(18): Show ATGTATATATGATATATATATACATG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02109.hp2 others(1): Show HG01884.hp2 HG02055.hp2 HG02109.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 others(1): Show a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0182	4	294	0.0136	25	c.103 others(44): Show c.1031-1046_1031-1045insCATGTATATATATATCATATATACA	LIMA1	ENSG00000050405.14	transcript	ENST00000341247.9	protein_coding	8/10			chr12	TogoVar
LIMA1_chr12_50170788_50288520	50240056	C C	CATAACAT others(18): Show CATAACATAACATAACATAACATAAA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	294	0.0034	25	c.120 others(42): Show c.120-8347_120-8346insTTTATGTTATGTTATGTTATGTTAT	LIMA1	ENSG00000050405.14	transcript	ENST00000341247.9	protein_coding	2/10			chr12	TogoVar
LIMCH1_chr4_41533157_41705044	41650995	C C	CTATTTTA others(18): Show CTATTTTATTTTATTTTATTTTATTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01433.hp2 HG02132.hp1 others(3): Show HG01358.hp1 HG01433.hp2 HG02132.hp1 HG02300.hp2 HG03225.hp2 NA19009.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0005c0019	a0001c0001t0001 a0002c0002t0005 a0003c0003t0008 others(1): Show a0001c0001t0001 a0002c0002t0005 a0003c0003t0008 a0005c0019t0014	a0001c0001t0001g0046 a0002c0002t0005g0021 a0002c0002t0005g0030 others(3): Show a0001c0001t0001g0046 a0002c0002t0005g0021 a0002c0002t0005g0030 a0002c0002t0005g0154 a0003c0003t0008g0090 a0005c0019t0014g0149	6	154	0.0390	25	c.303 others(42): Show c.3036+389_3036+413dupATTTTATTTTATTTTATTTTATTTT	LIMCH1	ENSG00000064042.18	transcript	ENST00000503057.6	protein_coding	18/31		INFO_REALIGN_3_PRIME	chr4	TogoVar
LIMD1_chr3_45589751_45691341	45594793	A A	ACACACAC others(18): Show ACACACACACACACACACACACACAC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00597.hp1 HG00609.hp2 HG03017.hp2 others(1): Show HG00597.hp1 HG00609.hp2 HG03017.hp2 NA18951.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0012 a0001c0001 a0005c0012	a0001c0001t0040 a0001c0001t0166 a0001c0001t0167 others(1): Show a0001c0001t0040 a0001c0001t0166 a0001c0001t0167 a0005c0012t0040	a0001c0001t0040g0269 a0001c0001t0166g0263 a0001c0001t0167g0275 others(1): Show a0001c0001t0040g0269 a0001c0001t0166g0263 a0001c0001t0167g0275 a0005c0012t0040g0271	4	358	0.0112	25	c.-86 others(32): Show c.-86_-62dupCACACACACACACACACACACACAC	LIMD1	ENSG00000144791.10	transcript	ENST00000273317.5	protein_coding	1/8	61	INFO_REALIGN_3_PRIME	chr3	TogoVar

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Search Results (Total: 8644 hits)