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
GRM7_chr3_6856115_7746533	7103749	CCTTTCTT others(9): Show CCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	80	0.0125	-16	c.520 others(35): Show c.520-42648_520-42633delTTCTTTCTTTCTTTCT	GRM7	ENSG00000196277.17	transcript	ENST00000357716.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
GRM7_chr3_6856115_7746533	7229720	CACACACA others(9): Show CACACACATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0003 a0002c0019t0003	a0002c0019t0003g0036 a0002c0019t0003g0036	1	80	0.0125	-16	c.737 others(35): Show c.737-68962_737-68947delCACACATATATATATA	GRM7	ENSG00000196277.17	transcript	ENST00000357716.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
GRM7_chr3_6856115_7746533	7229722	CACACATA others(9): Show CACACATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02622.hp1 HG02717.hp2 others(3): Show HG02145.hp1 HG02622.hp1 HG02717.hp2 HG03195.hp1 HG03209.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0009 a0001c0013	a0001c0001t0003 a0001c0001t0005 a0001c0002t0002 others(3): Show a0001c0001t0003 a0001c0001t0005 a0001c0002t0002 a0001c0004t0004 a0001c0009t0001 a0001c0013t0001	a0001c0001t0003g0063 a0001c0001t0005g0055 a0001c0002t0002g0042 others(3): Show a0001c0001t0003g0063 a0001c0001t0005g0055 a0001c0002t0002g0042 a0001c0004t0004g0008 a0001c0009t0001g0049 a0001c0013t0001g0048	6	80	0.0750	-16	c.737 others(35): Show c.737-68960_737-68945delCACATATATATATATA	GRM7	ENSG00000196277.17	transcript	ENST00000357716.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
GRM7_chr3_6856115_7746533	7291489	GCTCTCTC others(9): Show GCTCTCTCTCTCTCTCT	G G	intron_variant intron_variant	MODIFIER	HG02896.hp2 NA18974.hp1 HG02896.hp2 NA18974.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0005 a0001c0003t0001 a0001c0003t0005	a0001c0003t0001g0052 a0001c0003t0005g0015 a0001c0003t0001g0052 a0001c0003t0005g0015	2	80	0.0250	-16	c.737 others(33): Show c.737-7145_737-7130delTCTCTCTCTCTCTCTC	GRM7	ENSG00000196277.17	transcript	ENST00000357716.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
GRM7_chr3_6856115_7746533	7352057	CCACACAC others(9): Show CCACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0013 a0001c0004t0002g0013	1	80	0.0125	-16	c.103 others(37): Show c.1033+45433_1033+45448delACACACACACACACAC	GRM7	ENSG00000196277.17	transcript	ENST00000357716.9	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
GRM7_chr3_6856115_7746533	7550569	CTCTCTCT others(9): Show CTCTCTCTCTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0018 a0001c0003t0001g0018	1	80	0.0125	-16	c.151 others(37): Show c.1516-27851_1516-27836delCTCTCTCTGTGTGTGT	GRM7	ENSG00000196277.17	transcript	ENST00000357716.9	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
GRM7_chr3_6856115_7746533	7656545	GCGCACAC others(9): Show GCGCACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02622.hp2 HG02280.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0003 a0001c0004t0003 a0001c0002t0003 a0001c0004t0003	a0001c0002t0003g0017 a0001c0004t0003g0058 a0001c0002t0003g0017 a0001c0004t0003g0058	2	80	0.0250	-16	c.245 others(37): Show c.2452-23502_2452-23487delGCACACACACACACAC	GRM7	ENSG00000196277.17	transcript	ENST00000357716.9	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
GRM7_chr3_6856115_7746533	7726613	CTATATAT others(9): Show CTATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA20129.hp2 HG02145.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0021 a0001c0009t0001g0049 a0001c0001t0001g0021 a0001c0009t0001g0049	2	80	0.0250	-16	c.269 others(37): Show c.2699-13707_2699-13692delTATATATATATATATA	GRM7	ENSG00000196277.17	transcript	ENST00000357716.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
GRM8_chr7_126433598_127257941	126453098	CACACACA others(9): Show CACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0073 a0001c0001t0005g0073	1	108	0.0093	-16	c.243 others(35): Show c.2431-6742_2431-6727delATGTGTGTGTGTGTGT	GRM8	ENSG00000179603.19	transcript	ENST00000339582.7	protein_coding	9/10			chr7	TogoVar
GRM8_chr7_126433598_127257941	126477565	AAGAAAGA others(9): Show AAGAAAGAAAGAAAGAG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA18906.hp1 HG02976.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0057 a0001c0001t0005g0073 a0001c0001t0001g0057 a0001c0001t0005g0073	2	108	0.0185	-16	c.243 others(37): Show c.2431-31209_2431-31194delCTCTTTCTTTCTTTCT	GRM8	ENSG00000179603.19	transcript	ENST00000339582.7	protein_coding	9/10			chr7	TogoVar
GRM8_chr7_126433598_127257941	126479741	TAGACAGA others(9): Show TAGACAGACAGACAGAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02965.hp1 NA18906.hp2 HG00639.hp2 HG02965.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0005g0086 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0005g0086	3	108	0.0278	-16	c.243 others(37): Show c.2431-33385_2431-33370delGTCTGTCTGTCTGTCT	GRM8	ENSG00000179603.19	transcript	ENST00000339582.7	protein_coding	9/10			chr7	TogoVar
GRM8_chr7_126433598_127257941	126484581	CTTTACTT others(9): Show CTTTACTTACTACTACT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02965.hp2 HG02486.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0042 a0001c0001t0001g0007 a0001c0001t0001g0042	2	108	0.0185	-16	c.243 others(37): Show c.2431-38225_2431-38210delAGTAGTAGTAAGTAAA	GRM8	ENSG00000179603.19	transcript	ENST00000339582.7	protein_coding	9/10			chr7	TogoVar
GRM8_chr7_126433598_127257941	126532764	GATATATA others(9): Show GATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	108	0.0093	-16	c.243 others(33): Show c.2430+172_2430+187delATATATATATATATAT	GRM8	ENSG00000179603.19	transcript	ENST00000339582.7	protein_coding	9/10			chr7	TogoVar
GRM8_chr7_126433598_127257941	126550101	GTTTTTTG others(9): Show GTTTTTTGTTTTTTTGT	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	108	0.0093	-16	c.149 others(37): Show c.1495-16230_1495-16215delACAAAAAAACAAAAAA	GRM8	ENSG00000179603.19	transcript	ENST00000339582.7	protein_coding	8/10			chr7	TogoVar
GRM8_chr7_126433598_127257941	126647293	GGATAGAT others(9): Show GGATAGATAGATAGATA	G G	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02723.hp1 HG03195.hp1 others(1): Show HG01943.hp1 HG02723.hp1 HG03195.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0004 a0001c0001t0001 a0001c0004t0004	a0001c0001t0001g0046 a0001c0001t0001g0090 a0001c0001t0001g0092 others(1): Show a0001c0001t0001g0046 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0004t0004g0005	4	108	0.0370	-16	c.135 others(37): Show c.1358-37811_1358-37796delTATCTATCTATCTATC	GRM8	ENSG00000179603.19	transcript	ENST00000339582.7	protein_coding	7/10			chr7	TogoVar
GRM8_chr7_126433598_127257941	126763460	TATATATA others(9): Show TATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	108	0.0093	-16	c.135 others(35): Show c.1357+6389_1357+6404delGTGTATATATATATAT	GRM8	ENSG00000179603.19	transcript	ENST00000339582.7	protein_coding	7/10			chr7	TogoVar
GRM8_chr7_126433598_127257941	126903747	GTATATGT others(9): Show GTATATGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01081.hp1 HG01257.hp1 others(16): Show HG00544.hp1 HG01081.hp1 HG01257.hp1 HG01978.hp2 HG02145.hp2 HG02559.hp2 HG02698.hp2 HG02735.hp2 HG02738.hp2 HG02970.hp1 HG02970.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG04228.hp2 NA19043.hp2 NA19068.hp2 NA19074.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0003c0003t0001	a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0018 others(16): Show a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0051 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0082 a0001c0001t0001g0096 a0001c0001t0001g0105 a0001c0001t0002g0006 a0001c0001t0002g0027 a0001c0001t0002g0059 a0001c0001t0002g0070 a0001c0001t0003g0001 a0001c0001t0008g0108 a0003c0003t0001g0100 a0003c0003t0001g0101	19	108	0.1759	-16	c.101 others(33): Show c.1018+209_1018+224delTATATATACACATATA	GRM8	ENSG00000179603.19	transcript	ENST00000339582.7	protein_coding	5/10			chr7	TogoVar
GRM8_chr7_126433598_127257941	126903759	ATATATAT others(9): Show ATATATATGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA19240.hp1 HG02723.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0090 a0001c0001t0001g0072 a0001c0001t0001g0090	2	108	0.0185	-16	c.101 others(33): Show c.1018+197_1018+212delCACACACACATATATA	GRM8	ENSG00000179603.19	transcript	ENST00000339582.7	protein_coding	5/10			chr7	TogoVar
GRM8_chr7_126433598_127257941	126974936	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	108	0.0093	-16	c.728 others(35): Show c.728-70269_728-70254delTTTTTTTTTTTTTTTT	GRM8	ENSG00000179603.19	transcript	ENST00000339582.7	protein_coding	3/10			chr7	TogoVar
GRM8_chr7_126433598_127257941	127015052	GAAGAAGA others(9): Show GAAGAAGAAGAAGAAGA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	108	0.0093	-16	c.727 others(35): Show c.727+91428_727+91443delTCTTCTTCTTCTTCTT	GRM8	ENSG00000179603.19	transcript	ENST00000339582.7	protein_coding	3/10			chr7	TogoVar
GRM8_chr7_126433598_127257941	127015248	AAGAAGAA others(9): Show AAGAAGAAGAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 NA18992.hp1 HG00639.hp2 NA18992.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0014 a0002c0002t0001g0069 a0001c0001t0002g0014 a0002c0002t0001g0069	2	108	0.0185	-16	c.727 others(35): Show c.727+91232_727+91247delCTTTTCTTCTTCTTCT	GRM8	ENSG00000179603.19	transcript	ENST00000339582.7	protein_coding	3/10			chr7	TogoVar
GRM8_chr7_126433598_127257941	127182632	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA19240.hp2 HG02572.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0006 a0001c0001t0001 a0001c0004t0006	a0001c0001t0001g0012 a0001c0004t0006g0004 a0001c0001t0001g0012 a0001c0004t0006g0004	2	108	0.0185	-16	c.510 others(35): Show c.510+60047_510+60062delACACACACACACACAC	GRM8	ENSG00000179603.19	transcript	ENST00000339582.7	protein_coding	2/10			chr7	TogoVar
GRPEL2_chr5_149340499_149359583	149346715	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp2 HG01175.hp2 others(7): Show HG00438.hp1 HG00597.hp2 HG01175.hp2 HG01346.hp1 HG02572.hp2 HG02723.hp2 HG03130.hp2 HG03688.hp2 HG04228.hp2 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0023 a0001c0001t0024	a0001c0001t0001g0045 a0001c0001t0005g0013 a0001c0001t0009g0062 others(2): Show a0001c0001t0001g0045 a0001c0001t0005g0013 a0001c0001t0009g0062 a0001c0001t0023g0013 a0001c0001t0024g0081	10	386	0.0259	-16	c.77+ others(31): Show c.77+1124_77+1139delTTTTTTTTTTTTTTTT	GRPEL2	ENSG00000164284.15	transcript	ENST00000329271.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
GRP_chr18_59215158_59235771	59226985	TTTTCTTC others(9): Show TTTTCTTCCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02559.hp1 HG02280.hp1 HG02559.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0003c0007t0001 a0001c0001t0001 a0003c0007t0001	a0001c0001t0001g0176 a0003c0007t0001g0066 a0001c0001t0001g0176 a0003c0007t0001g0066	2	408	0.0049	-16	c.382 others(33): Show c.382+1258_382+1273delCCTTTCTTTCTTTCTT	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GRP_chr18_59215158_59235771	59226992	CCTTTCTT others(9): Show CCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00621.hp2 HG01168.hp1 others(14): Show HG00609.hp2 HG00621.hp2 HG01168.hp1 HG01192.hp2 HG01261.hp1 HG01361.hp2 HG02155.hp1 HG02602.hp1 HG02965.hp2 HG03225.hp2 HG03471.hp2 HG04199.hp2 HG04228.hp1 NA19002.hp1 NA19012.hp2 NA19058.hp1 NA19077.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0012 a0001c0001t0001g0125 a0001c0001t0001g0162 others(7): Show a0001c0001t0001g0012 a0001c0001t0001g0125 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0171 a0002c0002t0001g0037 a0002c0002t0001g0078 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0092	17	408	0.0417	-16	c.382 others(33): Show c.382+1306_382+1321delTCTTTCTTTCTTTCTT	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GRP_chr18_59215158_59235771	59227040	TCTTTCTT others(9): Show TCTTTCTTTCTTTCTTC	T T	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	408	0.0025	-16	c.382 others(33): Show c.382+1319_382+1334delCTTCCTTTCTTTCTTT	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GRP_chr18_59215158_59235771	59234298	TTATACAT others(9): Show TTATACATACCATGGTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	408	0.0025	-16	c.38 others(27): Show c.3831_*3846delTATACATACCATGGTA	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding		3528		chr18	TogoVar
GRTP1_chr13_113319163_113369130	113331648	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA19240.hp1 HG03139.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0148 a0001c0001t0003g0163 a0001c0001t0003g0148 a0001c0001t0003g0163	2	288	0.0069	-16	c.563 others(33): Show c.563-5573_563-5558delAAAAAAAAAAAAAAAA	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	5/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113350428	TCCCACAG others(9): Show TCCCACAGCGCACGCAC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0033 a0001c0001t0003g0033	1	288	0.0035	-16	c.465 others(31): Show c.465+405_465+420delGTGCGTGCGCTGTGGG	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRXCR1_chr4_42887713_43035658	42932605	TATATATA others(9): Show TATATATATATATATAG	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA18906.hp1 HG01496.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0086 a0001c0001t0002g0048 a0001c0001t0002g0086	2	338	0.0059	-16	c.385 others(35): Show c.385-30285_385-30270delTATATATATATATAGA	GRXCR1	ENSG00000215203.3	transcript	ENST00000399770.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
GRXCR1_chr4_42887713_43035658	42932607	TATATATA others(9): Show TATATATATATATAGAG	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0003 a0001c0001t0006g0003	1	338	0.0030	-16	c.385 others(35): Show c.385-30283_385-30268delTATATATATATAGAGA	GRXCR1	ENSG00000215203.3	transcript	ENST00000399770.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
GRXCR1_chr4_42887713_43035658	42932609	TATATATA others(9): Show TATATATATATAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0132 a0001c0001t0003g0132	1	338	0.0030	-16	c.385 others(35): Show c.385-30281_385-30266delTATATATATAGAGAGA	GRXCR1	ENSG00000215203.3	transcript	ENST00000399770.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
GRXCR1_chr4_42887713_43035658	42932611	TATATATA others(9): Show TATATATATAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01168.hp2 NA18981.hp2 NA19081.hp2 others(2): Show HG01168.hp2 NA18981.hp2 NA19081.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0007 a0001c0001t0002g0041 a0001c0001t0002g0053 others(2): Show a0001c0001t0002g0007 a0001c0001t0002g0041 a0001c0001t0002g0053 a0001c0001t0002g0057 a0001c0001t0004g0172	5	338	0.0148	-16	c.385 others(35): Show c.385-30279_385-30264delTATATATAGAGAGAGA	GRXCR1	ENSG00000215203.3	transcript	ENST00000399770.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
GRXCR1_chr4_42887713_43035658	42932613	TATATATA others(9): Show TATATATAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01993.hp1 HG02818.hp2 others(1): Show HG00544.hp1 HG01993.hp1 HG02818.hp2 NA19007.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0002	a0001c0001t0001g0146 a0001c0001t0002g0042 a0001c0001t0004g0169 others(1): Show a0001c0001t0001g0146 a0001c0001t0002g0042 a0001c0001t0004g0169 a0002c0002t0002g0266	4	338	0.0118	-16	c.385 others(35): Show c.385-30277_385-30262delTATATAGAGAGAGAGA	GRXCR1	ENSG00000215203.3	transcript	ENST00000399770.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
GRXCR1_chr4_42887713_43035658	42932615	TATATAGA others(9): Show TATATAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0328 a0003c0003t0002g0328	1	338	0.0030	-16	c.385 others(35): Show c.385-30275_385-30260delTATAGAGAGAGAGAGA	GRXCR1	ENSG00000215203.3	transcript	ENST00000399770.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
GRXCR1_chr4_42887713_43035658	42932617	TATAGAGA others(9): Show TATAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp2 NA19006.hp1 others(1): Show NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19068.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0001	a0001c0001t0001g0064 a0001c0001t0002g0055 a0001c0001t0004g0205 others(1): Show a0001c0001t0001g0064 a0001c0001t0002g0055 a0001c0001t0004g0205 a0002c0002t0001g0245	4	338	0.0118	-16	c.385 others(35): Show c.385-30273_385-30258delTAGAGAGAGAGAGAGA	GRXCR1	ENSG00000215203.3	transcript	ENST00000399770.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
GRXCR1_chr4_42887713_43035658	42932619	TAGAGAGA others(9): Show TAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA18952.hp2 NA18984.hp1 HG03471.hp1 NA18952.hp2 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0092 a0001c0001t0004g0204 a0001c0001t0004g0210 a0001c0001t0002g0092 a0001c0001t0004g0204 a0001c0001t0004g0210	3	338	0.0089	-16	c.385 others(35): Show c.385-30242_385-30227delAGAGAGAGAGAGAGAG	GRXCR1	ENSG00000215203.3	transcript	ENST00000399770.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
GSDME_chr7_24693355_24762464	24735760	AAAATAAA others(9): Show AAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG02572.hp2 others(4): Show HG01069.hp2 HG01071.hp1 HG02572.hp2 HG02818.hp1 HG03471.hp2 HG03486.hp2 NA19002.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0014 a0001c0001t0015 a0002c0003t0001 a0001c0001t0014 a0001c0001t0015 a0002c0003t0001	a0001c0001t0014g0191 a0001c0001t0015g0354 a0002c0003t0001g0024 others(2): Show a0001c0001t0014g0191 a0001c0001t0015g0354 a0002c0003t0001g0024 a0002c0003t0001g0025 a0002c0003t0001g0268	7	410	0.0171	-16	c.404 others(33): Show c.404+8786_404+8801delATTTATTTATTTATTT	GSDME	ENSG00000105928.16	transcript	ENST00000645220.1	protein_coding	3/9			chr7	TogoVar
GSDME_chr7_24693355_24762464	24744984	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp2 HG02257.hp2 HG02258.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0109 a0001c0004t0001g0133 a0001c0004t0001g0109 a0001c0004t0001g0133	2	410	0.0049	-16	c.212 others(31): Show c.212-246_212-231delACACACACACACACAC	GSDME	ENSG00000105928.16	transcript	ENST00000645220.1	protein_coding	2/9			chr7	TogoVar
GSG1L2_chr17_9795608_9827079	9816438	CTGTGTGC others(9): Show CTGTGTGCGTGTGTCTG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02559.hp1 HG03195.hp2 HG02280.hp2 HG02559.hp1 HG03195.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0002 a0001c0004t0001 a0001c0003t0002 a0001c0004t0001	a0001c0003t0002g0117 a0001c0004t0001g0116 a0001c0004t0001g0148 a0001c0003t0002g0117 a0001c0004t0001g0116 a0001c0004t0001g0148	3	474	0.0063	-16	c.310 others(33): Show c.310+5308_310+5323delCAGACACACGCACACA	GSG1L2	ENSG00000214978.8	transcript	ENST00000399363.5	protein_coding	1/4			chr17	TogoVar
GSG1L_chr16_27782528_28068714	27792362	CACACTTA others(9): Show CACACTTAGTGGACTGG	C C	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19079.hp2 NA19005.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0202 a0001c0001t0003g0222 a0001c0001t0003g0202 a0001c0001t0003g0222	2	240	0.0083	-16	c.899 others(31): Show c.899-911_899-896delCCAGTCCACTAAGTGT	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	6/6			chr16	TogoVar
GSG1L_chr16_27782528_28068714	27803784	TATATATA others(9): Show TATATATATATAGATAG	T T	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG03704.hp1 NA18946.hp1 others(2): Show HG01168.hp1 HG03704.hp1 NA18946.hp1 NA19010.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0002 a0001c0002t0002 a0001c0004t0026 a0001c0001t0002 a0001c0002t0002 a0001c0004t0026	a0001c0001t0002g0042 a0001c0001t0002g0057 a0001c0001t0002g0100 others(2): Show a0001c0001t0002g0042 a0001c0001t0002g0057 a0001c0001t0002g0100 a0001c0002t0002g0223 a0001c0004t0026g0003	5	240	0.0208	-16	c.898 others(33): Show c.898+3687_898+3702delCTATCTATATATATAT	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	6/6			chr16	TogoVar
GSG1L_chr16_27782528_28068714	27804037	GGATAGAT others(9): Show GGATAGATAGATAGATA	G G	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0204 a0001c0001t0015g0204	1	240	0.0042	-16	c.898 others(33): Show c.898+3434_898+3449delTATCTATCTATCTATC	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	6/6			chr16	TogoVar
GSG1L_chr16_27782528_28068714	27827856	TTCCATCC others(9): Show TTCCATCCATCCATCCA	T T	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	240	0.0042	-16	c.830 others(31): Show c.830+917_830+932delTGGATGGATGGATGGA	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	5/6			chr16	TogoVar
GSG1L_chr16_27782528_28068714	27865560	TATATATA others(9): Show TATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA18990.hp2 HG01934.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0002t0011 a0001c0001t0011 a0001c0002t0011	a0001c0001t0011g0151 a0001c0002t0011g0052 a0001c0001t0011g0151 a0001c0002t0011g0052	2	240	0.0083	-16	c.550 others(35): Show c.550+18910_550+18925delGTGTATATATATATAT	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	3/6			chr16	TogoVar
GSG1L_chr16_27782528_28068714	27865562	TATATATA others(9): Show TATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0188 a0001c0002t0002g0188	1	240	0.0042	-16	c.550 others(35): Show c.550+18908_550+18923delGTGTGTATATATATAT	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	3/6			chr16	TogoVar
GSG1L_chr16_27782528_28068714	27874441	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG04199.hp2 HG00544.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0036 a0001c0001t0002 a0001c0001t0036	a0001c0001t0002g0063 a0001c0001t0036g0201 a0001c0001t0002g0063 a0001c0001t0036g0201	2	240	0.0083	-16	c.550 others(35): Show c.550+10029_550+10044delAAAAAAAAAAAAAAAA	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	3/6			chr16	TogoVar
GSG1L_chr16_27782528_28068714	27888482	CCTTTCTT others(9): Show CCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01496.hp1 HG02738.hp2 others(5): Show HG00621.hp2 HG01496.hp1 HG02738.hp2 HG02976.hp1 HG03492.hp1 HG03654.hp1 HG04199.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0010 a0001c0001t0036 others(4): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0036 a0001c0001t0042 a0001c0002t0002 a0001c0002t0006 a0001c0002t0025	a0001c0001t0001g0080 a0001c0001t0001g0207 a0001c0001t0010g0024 others(5): Show a0001c0001t0001g0080 a0001c0001t0001g0207 a0001c0001t0010g0024 a0001c0001t0036g0201 a0001c0001t0042g0111 a0001c0002t0002g0149 a0001c0002t0006g0071 a0001c0002t0025g0002	8	240	0.0333	-16	c.398 others(33): Show c.398-3860_398-3845delAAAGAAAGAAAGAAAG	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	2/6			chr16	TogoVar
GSG1L_chr16_27782528_28068714	27915196	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01243.hp1 HG01884.hp1 others(6): Show HG01074.hp1 HG01243.hp1 HG01884.hp1 HG01891.hp1 HG02486.hp1 HG02717.hp1 HG02717.hp2 HG02738.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 a0001c0002t0002 a0001c0002t0018 a0001c0002t0037 a0001c0002t0047	a0001c0001t0001g0230 a0001c0001t0002g0027 a0001c0001t0002g0117 others(6): Show a0001c0001t0001g0230 a0001c0001t0002g0027 a0001c0001t0002g0117 a0001c0001t0018g0058 a0001c0002t0002g0099 a0001c0002t0002g0149 a0001c0002t0018g0107 a0001c0002t0037g0018 a0001c0002t0047g0160	9	240	0.0375	-16	c.398 others(35): Show c.398-30574_398-30559delGTGTGTGTGTGTGTGT	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	2/6			chr16	TogoVar
GSG1L_chr16_27782528_28068714	27946571	AAGAAAGA others(9): Show AAGAAAGAAAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01070.hp2 HG01071.hp1 others(3): Show HG00280.hp2 HG01070.hp2 HG01071.hp1 HG02080.hp2 HG02717.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0002t0007 a0001c0002t0047	a0001c0001t0001g0084 a0001c0002t0001g0066 a0001c0002t0003g0142 others(3): Show a0001c0001t0001g0084 a0001c0002t0001g0066 a0001c0002t0003g0142 a0001c0002t0007g0072 a0001c0002t0007g0073 a0001c0002t0047g0160	6	240	0.0250	-16	c.397 others(35): Show c.397+16569_397+16584delCTCTCTCTTTCTTTCT	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	2/6			chr16	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)