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
CHAF1A_chr19_4397640_4448397	4411644	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG02056.hp1 others(6): Show HG01515.hp2 HG01517.hp2 HG02056.hp1 HG02738.hp2 HG03688.hp1 HG03688.hp2 NA18941.hp1 NA19009.hp2 NA19070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0021 a0002c0002t0002g0023 a0002c0002t0002g0024 others(6): Show a0002c0002t0002g0021 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0028 a0002c0002t0002g0046 a0002c0002t0002g0078 a0002c0002t0002g0089 a0002c0002t0002g0095 a0002c0002t0002g0097	9	384	0.0234	22	c.960 others(39): Show c.960+1906_960+1907insTTTTTTTTTTTTTTTTTTTTTT	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHAF1A_chr19_4397640_4448397	4427136	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA18906.hp1 HG02647.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	2	384	0.0052	22	c.137 others(41): Show c.1378-1518_1378-1497dupTTTTTTTTTTTTTTTTTTTTTT	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHAF1B_chr21_36380392_36424015	36389800	T T	TGTGCGCG others(15): Show TGTGCGCGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0295 a0001c0001t0006g0295	1	346	0.0029	22	c.260 others(39): Show c.260-1750_260-1749insTGCGCGCGCGCGCGCGCGCGCG	CHAF1B	ENSG00000159259.8	transcript	ENST00000314103.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHAF1B_chr21_36380392_36424015	36389800	T T	TGTGTGCG others(15): Show TGTGTGCGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0302 a0001c0001t0017g0302	1	346	0.0029	22	c.260 others(39): Show c.260-1750_260-1749insTGTGCGCGCGCGCGCGCGCGCG	CHAF1B	ENSG00000159259.8	transcript	ENST00000314103.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHAF1B_chr21_36380392_36424015	36389800	T T	TGTGTGTG others(15): Show TGTGTGTGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0306 a0001c0001t0017g0306	1	346	0.0029	22	c.260 others(39): Show c.260-1750_260-1749insTGTGTGCGCGCGCGCGCGCGCG	CHAF1B	ENSG00000159259.8	transcript	ENST00000314103.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHAF1B_chr21_36380392_36424015	36389800	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGCGCGCGC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01934.hp1 HG00733.hp2 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0319 a0001c0001t0005g0324 a0001c0001t0005g0319 a0001c0001t0005g0324	2	346	0.0058	22	c.260 others(39): Show c.260-1750_260-1749insTGTGTGTGTGTGTGCGCGCGCG	CHAF1B	ENSG00000159259.8	transcript	ENST00000314103.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHAF1B_chr21_36380392_36424015	36401400	T T	TATATATT others(15): Show TATATATTTTTATATTATACATA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0228	1	346	0.0029	22	c.664 others(39): Show c.664-1351_664-1330dupTTTTATATTATACATAATATAT	CHAF1B	ENSG00000159259.8	transcript	ENST00000314103.6	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHAT_chr10_49609037_49672942	49621861	A A	AGAACCAC others(15): Show AGAACCACATCTGATTAGTGCAG	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18998.hp1 NA18995.hp2 NA18998.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0106 a0002c0002t0007g0363 a0002c0002t0007g0106 a0002c0002t0007g0363	2	418	0.0048	22	c.699 others(37): Show c.699-214_699-193dupGGAACCACATCTGATTAGTGCA	CHAT	ENSG00000070748.19	transcript	ENST00000337653.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
CHCHD10_chr22_23760834_23772972	23770865	T T	TAAAAAAT others(15): Show TAAAAAATACTAAAATATAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0012 a0001c0005t0001g0012	1	431	0.0023	22	c.-29 others(33): Show c.-2992_-2991insTTTTTATATTTTAGTATTTTTT	CHCHD10	ENSG00000250479.9	transcript	ENST00000484558.3	protein_coding		2894		chr22	TogoVar
CHCHD3_chr7_132779870_133087090	132955173	G G	GGGGTGTG others(15): Show GGGGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA19030.hp2 HG02717.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0150 a0001c0001t0001g0152	2	310	0.0065	22	c.369 others(41): Show c.369+19995_369+19996insACACACACACACACACACACCC	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	4/7			chr7	TogoVar
CHCHD3_chr7_132779870_133087090	132955173	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01070.hp2 HG01071.hp2 others(9): Show HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01123.hp1 HG03017.hp2 NA18948.hp1 NA18954.hp1 NA18994.hp1 NA19001.hp2 NA19002.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0130 others(9): Show a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0130 a0001c0001t0001g0143 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0183 a0001c0001t0001g0300	12	310	0.0387	22	c.369 others(41): Show c.369+19974_369+19995dupACACACACACACACACACACAC	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	4/7			chr7	TogoVar
CHCHD3_chr7_132779870_133087090	132963694	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA19030.hp2 HG01884.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0150 a0001c0001t0001g0154	2	310	0.0065	22	c.369 others(41): Show c.369+11474_369+11475insGTGTGTGTGTGTGTGTGTGTGT	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	4/7			chr7	TogoVar
CHCHD6_chr3_126699240_126965420	126861906	C C	CATCACCA others(15): Show CATCACCACCTCCCCCTTCACTA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	216	0.0046	22	c.495 others(39): Show c.495+9177_495+9198dupATCACCACCTCCCCCTTCACTA	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHD1L_chr1_147237684_147300762	147299000	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0027 a0002c0002t0001g0027	1	418	0.0024	22	c.34 others(33): Show c.3491_*3492insTTTTTTTTTTTTTTTTTTTTTT	CHD1L	ENSG00000131778.20	transcript	ENST00000369258.8	protein_coding		3239		chr1	TogoVar
CHD1_chr5_98848985_98934007	98911144	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0041 a0001c0001t0015g0041	1	334	0.0030	22	c.54- others(37): Show c.54-6047_54-6046insATATATATATATATATATATAT	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35			chr5	TogoVar
CHD1_chr5_98848985_98934007	98911146	A A	AAAATATA others(15): Show AAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03225.hp1 HG02572.hp2 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0055 a0001c0003t0006g0064 a0001c0003t0006g0055 a0001c0003t0006g0064	2	334	0.0060	22	c.54- others(37): Show c.54-6049_54-6048insATATATATATATATATATATTT	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35			chr5	TogoVar
CHD1_chr5_98848985_98934007	98917299	C C	CCAAAAAA others(15): Show CCAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03225.hp1 HG01884.hp2 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0055 a0001c0003t0006g0066 a0001c0003t0006g0055 a0001c0003t0006g0066	2	334	0.0060	22	c.53+ others(37): Show c.53+9034_53+9035insTTTTTTTTTTTTTTTTTTTTTG	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35			chr5	TogoVar
CHD3_chr17_7883789_7917755	7885307	C C	CCCGCCGC others(15): Show CCCGCCGCACCCCTCCCCCGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	2	366	0.0055	22	c.-36 others(33): Show c.-3694_-3693insCCGCCGCACCCCTCCCCCGCCG	CHD3	ENSG00000170004.19	transcript	ENST00000330494.12	protein_coding		3481		chr17	TogoVar
CHD3_chr17_7883789_7917755	7891925	T T	TATCAGTT others(15): Show TATCAGTTCAGTGCTCTGGAGGC	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02273.hp1 HG02293.hp2 HG01952.hp2 HG02273.hp1 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0193 a0001c0001t0001g0052 a0001c0001t0001g0193	3	366	0.0082	22	c.509 others(37): Show c.509+863_509+884dupTCAGTTCAGTGCTCTGGAGGCA	CHD3	ENSG00000170004.19	transcript	ENST00000330494.12	protein_coding	4/39		INFO_REALIGN_3_PRIME	chr17	TogoVar
CHD4_chr12_6565082_6612379	6600699	C C	CGTTTCAA others(15): Show CGTTTCAAGCCAAGGGGAAAGGA	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0188 a0002c0001t0001g0188	1	374	0.0027	22	c.928 others(35): Show c.928-31_928-30insTCCTTTCCCCTTGGCTTGAAAC	CHD4	ENSG00000111642.16	transcript	ENST00000544040.7	protein_coding	7/39			chr12	TogoVar
CHD5_chr1_6096787_6185321	6132880	T T	TTCTCTCT others(15): Show TTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0014 a0001c0010t0014	a0001c0010t0014g0242 a0001c0010t0014g0242	1	320	0.0031	22	c.314 others(41): Show c.3145-1154_3145-1133dupGAGAGAGAGAGAGAGAGAGAGA	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	20/41			chr1	TogoVar
CHD6_chr20_41397083_41623377	41419554	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	324	0.0031	22	c.612 others(39): Show c.6127+932_6127+953dupTTTTTTTTTTTTTTTTTTTTTT	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	31/36			chr20	TogoVar
CHD6_chr20_41397083_41623377	41504077	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02004.hp1 NA18747.hp1 HG02004.hp1 NA18747.hp1	a0001 a0007 a0001 a0007	a0001c0002 a0007c0012 a0001c0002 a0007c0012	a0001c0002t0001 a0007c0012t0004 a0001c0002t0001 a0007c0012t0004	a0001c0002t0001g0174 a0007c0012t0004g0310 a0001c0002t0001g0174 a0007c0012t0004g0310	2	324	0.0062	22	c.853 others(39): Show c.853-4742_853-4721dupTTTTTTTTTTTTTTTTTTTTTT	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	5/36			chr20	TogoVar
CHD7_chr8_60673740_60873028	60816113	G G	GTCTGTCT others(15): Show GTCTGTCTGTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0015 a0015	a0015c0015 a0015c0015	a0015c0015t0010 a0015c0015t0010	a0015c0015t0010g0222 a0015c0015t0010g0222	1	236	0.0042	22	c.249 others(39): Show c.2499-271_2499-270insGTCTGTCTCTCTCTCTCTCTCT	CHD7	ENSG00000171316.14	transcript	ENST00000423902.7	protein_coding	7/37		INFO_REALIGN_3_PRIME	chr8	TogoVar
CHD9_chr16_53049991_53332497	53146413	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0011 a0001c0005t0011	a0001c0005t0011g0228 a0001c0005t0011g0228	1	238	0.0042	22	c.-16 others(41): Show c.-164-9512_-164-9511insATATATATATATATATATATAT	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHD9_chr16_53049991_53332497	53146419	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03098.hp2 HG02886.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0091 a0001c0001t0007g0103 a0001c0001t0001g0091 a0001c0001t0007g0103	2	238	0.0084	22	c.-16 others(41): Show c.-164-9489_-164-9488insTATATATATATATATATATATA	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHDH_chr3_53807335_53851419	53810758	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0005 a0001c0003t0008g0005	1	392	0.0026	22	c.69 others(33): Show c.6997_*7018dupTTTTTTTTTTTTTTTTTTTTTT	CHDH	ENSG00000016391.11	transcript	ENST00000315251.11	protein_coding		1576		chr3	TogoVar
CHL1_chr3_191763_414417	314329	G G	GTGTATAT others(15): Show GTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	290	0.0035	22	c.-94 others(39): Show c.-94-5353_-94-5352insGTATATATATATATATATATAT	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHMP2B_chr3_87222309_87260556	87256623	T T	TGTTTTAA others(15): Show TGTTTTAACATGTTAAAACAGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01081.hp2 HG01175.hp1 others(6): Show HG00735.hp2 HG01081.hp2 HG01175.hp1 HG02109.hp1 HG02622.hp1 HG02970.hp2 HG03195.hp2 NA19077.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0003 a0001c0002t0001g0015 a0001c0002t0001g0030 others(2): Show a0001c0001t0002g0003 a0001c0002t0001g0015 a0001c0002t0001g0030 a0001c0002t0001g0032 a0001c0002t0001g0078	9	414	0.0217	22	c.28 others(33): Show c.2801_*2802insGTTTTAACATGTTAAAACAGAC	CHMP2B	ENSG00000083937.10	transcript	ENST00000263780.9	protein_coding		1068		chr3	TogoVar
CHMP7_chr8_23238637_23266999	23241367	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02004.hp2 NA18747.hp1 HG01109.hp1 HG02004.hp2 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0011 a0001c0001t0006 a0001c0001t0011	a0001c0001t0006g0167 a0001c0001t0011g0171 a0001c0001t0011g0178 a0001c0001t0006g0167 a0001c0001t0011g0171 a0001c0001t0011g0178	3	438	0.0069	22	c.-29 others(33): Show c.-2918_-2917insTTTTTTTTTTTTTTTTTTTTTT	CHMP7	ENSG00000147457.14	transcript	ENST00000397677.6	protein_coding		2269		chr8	TogoVar
CHM_chrX_85856180_86052558	85871320	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0116 a0001c0001t0006g0116	1	245	0.0041	22	c.177 others(41): Show c.1770+1731_1770+1732insCTTTTTTTTTTTTTTTTTTTTT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	14/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85911202	A A	AATATATA others(15): Show AATATATATATATGAATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03139.hp1 HG03195.hp1 HG02922.hp2 HG03139.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093	3	245	0.0122	22	c.124 others(37): Show c.1244+37_1244+58dupATATATATTCATATATATATAT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	9/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85913328	A A	AAGAAAGA others(15): Show AAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	245	0.0041	22	c.116 others(41): Show c.1167-1991_1167-1990insCTTTCTTTCTTTCTTTCTTTCT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85913332	A A	AAAAAAAA others(15): Show AAAAAAAAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0006 a0008c0011t0006	a0008c0011t0006g0230 a0008c0011t0006g0230	1	245	0.0041	22	c.116 others(41): Show c.1167-1995_1167-1994insCTTTCTTTCTTTCTTTTTTTTT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85913332	A A	AAAAAAGA others(15): Show AAAAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	245	0.0041	22	c.116 others(41): Show c.1167-1995_1167-1994insCTTTCTTTCTTTCTTTCTTTTT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85913332	A A	AAGAAAGA others(15): Show AAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18977.hp1 HG02040.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0155 a0001c0001t0001g0143 a0001c0001t0001g0155	2	245	0.0082	22	c.116 others(41): Show c.1167-1995_1167-1994insCTTTCTTTCTTTCTTTCTTTCT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85949978	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02559.hp2 HG03195.hp2 others(2): Show HG01884.hp1 HG02559.hp2 HG03195.hp2 HG03239.hp1 NA19070.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0009 a0001c0001 a0005c0009	a0001c0001t0001 a0001c0001t0004 a0005c0009t0012 a0001c0001t0001 a0001c0001t0004 a0005c0009t0012	a0001c0001t0001g0120 a0001c0001t0001g0169 a0001c0001t0001g0172 others(2): Show a0001c0001t0001g0120 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0004g0237 a0005c0009t0012g0225	5	245	0.0204	22	c.116 others(41): Show c.1166+6153_1166+6174dupATATATATATATATATATATAT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85981206	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02109.hp1 HG02258.hp1 others(1): Show HG01109.hp1 HG02109.hp1 HG02258.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0019 a0001c0001t0004 a0001c0001t0007 a0001c0001t0019	a0001c0001t0004g0233 a0001c0001t0007g0079 a0001c0001t0007g0080 others(1): Show a0001c0001t0004g0233 a0001c0001t0007g0079 a0001c0001t0007g0080 a0001c0001t0019g0078	4	245	0.0163	22	c.189 others(37): Show c.189+530_189+531insTATATATATATATATATATATA	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	3/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85981206	C C	CTATTTCT others(15): Show CTATTTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	245	0.0041	22	c.189 others(37): Show c.189+530_189+531insTATATATATATATATAGAAATA	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	3/14			chrX	TogoVar
CHN1_chr2_174793809_175010381	174847773	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03239.hp1 HG03209.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0184 a0001c0001t0008g0029 a0001c0001t0001g0184 a0001c0001t0008g0029	2	276	0.0073	22	c.550 others(37): Show c.550-838_550-817dupTTTTTTTTTTTTTTTTTTTTTT	CHN1	ENSG00000128656.15	transcript	ENST00000409900.9	protein_coding	6/12			chr2	TogoVar
CHN1_chr2_174793809_175010381	174858979	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	276	0.0036	22	c.550 others(41): Show c.550-12044_550-12023dupGTGTGTGTGTGTGTGTGTGTGT	CHN1	ENSG00000128656.15	transcript	ENST00000409900.9	protein_coding	6/12			chr2	TogoVar
CHN1_chr2_174793809_175010381	174989016	T T	TAGTAGTA others(15): Show TAGTAGTAAAGTATTCATCTATA	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	276	0.0036	22	c.19+ others(39): Show c.19+15877_19+15878insTATAGATGAATACTTTACTACT	CHN1	ENSG00000128656.15	transcript	ENST00000409900.9	protein_coding	1/12			chr2	TogoVar
CHN2_chr7_29189775_29519328	29195595	C C	CGAGAGAG others(15): Show CGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01433.hp1 HG01978.hp1 HG01071.hp2 HG01433.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0012 a0001c0001t0008g0010 a0001c0001t0008g0011 a0001c0001t0001g0012 a0001c0001t0008g0010 a0001c0001t0008g0011	3	232	0.0129	22	c.49+ others(35): Show c.49+619_49+640dupAGAGAGAGAGAGAGAGAGAGAG	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29195629	A A	AGAGAGAG others(15): Show AGAGAGAGAGAGAGAGAGAGTGT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0028 a0001c0001t0005g0028	1	232	0.0043	22	c.49+ others(35): Show c.49+640_49+641insAGAGAGAGAGAGAGAGAGTGTG	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29195629	A A	AGAGAGAG others(15): Show AGAGAGAGAGAGAGAGAGTGTGT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01884.hp1 NA18612.hp2 others(1): Show HG00597.hp2 HG01884.hp1 NA18612.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0009 a0001c0002t0002 others(1): Show a0001c0001t0003 a0001c0001t0009 a0001c0002t0002 a0001c0002t0004	a0001c0001t0003g0044 a0001c0001t0009g0043 a0001c0002t0002g0041 others(1): Show a0001c0001t0003g0044 a0001c0001t0009g0043 a0001c0002t0002g0041 a0001c0002t0004g0042	4	232	0.0172	22	c.49+ others(35): Show c.49+640_49+641insAGAGAGAGAGAGAGAGTGTGTG	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29233825	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG03486.hp2 HG01978.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0002 a0001c0001t0005 a0001c0002t0002	a0001c0001t0005g0193 a0001c0002t0002g0077 a0001c0001t0005g0193 a0001c0002t0002g0077	2	232	0.0086	22	c.49+ others(39): Show c.49+38840_49+38861dupTTTTTTTTTTTTTTTTTTTTTT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29252578	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01934.hp2 HG01943.hp1 others(1): Show HG00280.hp2 HG01934.hp2 HG01943.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0006t0002	a0001c0001t0001g0025 a0001c0001t0003g0214 a0001c0001t0006g0147 others(1): Show a0001c0001t0001g0025 a0001c0001t0003g0214 a0001c0001t0006g0147 a0001c0006t0002g0197	4	232	0.0172	22	c.49+ others(39): Show c.49+57595_49+57616dupTTTTTTTTTTTTTTTTTTTTTT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29268283	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 NA18957.hp1 NA18991.hp1 others(1): Show HG00140.hp2 NA18957.hp1 NA18991.hp1 NA18998.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0002c0004t0001 a0001c0001t0001 a0001c0001t0003 a0002c0004t0001	a0001c0001t0001g0082 a0001c0001t0003g0016 a0001c0001t0003g0049 others(1): Show a0001c0001t0001g0082 a0001c0001t0003g0016 a0001c0001t0003g0049 a0002c0004t0001g0031	4	232	0.0172	22	c.49+ others(39): Show c.49+73311_49+73332dupCACACACACACACACACACACA	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29273353	A A	ATATATAT others(15): Show ATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02129.hp1 HG02071.hp1 HG02129.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0002c0003t0004 a0001c0002t0002 a0002c0003t0004	a0001c0002t0002g0045 a0002c0003t0004g0124 a0001c0002t0002g0045 a0002c0003t0004g0124	2	232	0.0086	22	c.49+ others(39): Show c.49+78382_49+78383insGTGTATATATATATATATATAT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29273767	T T	TTGAATTA others(15): Show TTGAATTAATGGGATTGAATGAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02897.hp2 HG02622.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0103 a0001c0001t0011g0164 a0001c0001t0001g0103 a0001c0001t0011g0164	2	232	0.0086	22	c.49+ others(39): Show c.49+78778_49+78779insGAATTAATGGGATTGAATGAAT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)