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.

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
NUP133_chr1_229435259_229513341	229472707	C C	CATACATA others(37): Show CATACATACATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0120 a0003c0003t0004g0120	1	276	0.0036	44	c.185 others(63): Show c.1852-1904_1852-1903insATATATATATATATATATATATATAT ATATATATATGTATGTAT	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding	14/25			chr1	TogoVar
NUP160_chr11_47773118_47853350	47775210	T T	TAGAAAAA others(37): Show TAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG02056.hp2 NA18987.hp1 HG01192.hp2 HG02056.hp2 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0328 a0001c0001t0002g0330 a0001c0001t0002g0066 a0001c0001t0002g0328 a0001c0001t0002g0330	3	338	0.0089	44	c.38 others(55): Show c.3894_*3895insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTCT	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding		2907		chr11	TogoVar
NUP160_chr11_47773118_47853350	47775210	T T	TAGAAAAA others(37): Show TAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0282 a0001c0001t0002g0282	1	338	0.0030	44	c.38 others(55): Show c.3894_*3895insTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTCT	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding		2907		chr11	TogoVar
NUP160_chr11_47773118_47853350	47775212	G G	GAAAAAAA others(37): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0189	1	338	0.0030	44	c.38 others(55): Show c.3892_*3893insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding		2905		chr11	TogoVar
NUP205_chr7_135552917_135653753	135570714	A A	ATTATATT others(37): Show ATTATATTAATATATTAATTATATTAATATATTATATTAATATAT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0318 a0001c0003t0001g0318	1	352	0.0028	44	c.29- others(57): Show c.29-391_29-390insTTATATTAATATATTAATTATATTAATATATT ATATTAATATAT	NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	1/42			chr7	TogoVar
NUP210L_chr1_153987690_154160073	154125622	A A	AAAGGAAG others(37): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01099.hp1 others(13): Show HG01069.hp1 HG01071.hp2 HG01099.hp1 HG02056.hp2 HG02273.hp1 HG02698.hp1 HG02698.hp2 HG03017.hp2 HG03704.hp2 HG04228.hp1 NA18747.hp1 NA18942.hp1 NA18968.hp1 NA18979.hp2 NA19007.hp2 NA21309.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0010	a0001c0001 a0001c0014 a0002c0002 others(2): Show a0001c0001 a0001c0014 a0002c0002 a0004c0005 a0010c0016	a0001c0001t0001 a0001c0014t0001 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0014t0001 a0002c0002t0001 a0004c0005t0001 a0010c0016t0001	a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0024 others(13): Show a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0103 a0001c0001t0001g0196 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0242 a0001c0001t0001g0269 a0001c0014t0001g0048 a0002c0002t0001g0227 a0004c0005t0001g0228 a0004c0005t0001g0230 a0010c0016t0001g0072	16	290	0.0552	44	c.132 others(61): Show c.1326+657_1326+700dupCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTT	NUP210L	ENSG00000143552.10	transcript	ENST00000368559.8	protein_coding	10/39			chr1	TogoVar
NUP210L_chr1_153987690_154160073	154140666	C C	CAAAAAAA others(37): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	290	0.0035	44	c.567 others(59): Show c.567-715_567-714insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	NUP210L	ENSG00000143552.10	transcript	ENST00000368559.8	protein_coding	4/39			chr1	TogoVar
NUP210_chr3_13311235_13425322	13377853	A A	ACCACCCA others(37): Show ACCACCCACCTGCAGGCCCCACACCACTTACCTGGAGGCCCCACT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0020 a0020	a0020c0020 a0020c0020	a0020c0020t0001 a0020c0020t0001	a0020c0020t0001g0193 a0020c0020t0001g0193	1	326	0.0031	44	c.104 others(61): Show c.1046-292_1046-291insAGTGGGGCCTCCAGGTAAGTGGTGTGGG GCCTGCAGGTGGGTGG	NUP210	ENSG00000132182.13	transcript	ENST00000254508.7	protein_coding	8/39			chr3	TogoVar
NUP54_chr4_76109664_76153397	76125752	G G	GGAGAGAG others(37): Show GGAGAGAGGGAGAGAGGGAGAGAGGGGGAGAGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0238 a0003c0003t0001g0238	1	370	0.0027	44	c.105 others(61): Show c.1057-997_1057-996insTCCCTCTCTCCCTCTCTCCCCCTCTCTC CCTCTCTCCCTCTCTC	NUP54	ENSG00000138750.16	transcript	ENST00000264883.8	protein_coding	8/11			chr4	TogoVar
NUP54_chr4_76109664_76153397	76125752	G G	GGAGAGGG others(37): Show GGAGAGGGGGAGAGAGGGAGAGAGGGGGAGAGGGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0121 a0001c0001t0004g0121	1	370	0.0027	44	c.105 others(61): Show c.1057-997_1057-996insTCCCTCTCTCCCCCTCTCCCCCTCTCTC CCTCTCTCCCCCTCTC	NUP54	ENSG00000138750.16	transcript	ENST00000264883.8	protein_coding	8/11			chr4	TogoVar
NUP62CL_chrX_107118427_107211433	107204845	T T	TTTAAATA others(37): Show TTTAAATAAATTTTAAATAAATTATTTAAATAAATTTTAAATAAA	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA19002.hp2 NA18957.hp1 NA19002.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0253 a0002c0002t0001g0254	2	280	0.0071	44	c.-92 others(61): Show c.-92+1427_-92+1428insTTTATTTAAAATTTATTTAAATAATTTA TTTAAAATTTATTTAA	NUP62CL	ENSG00000198088.10	transcript	ENST00000372466.8	protein_coding	1/8			chrX	TogoVar
NUP93_chr16_56725129_56855286	56808288	T T	TTATATAA others(37): Show TTATATAACTATATAAAATATATAGTTATATAACTATATAAAATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03453.hp1 NA21309.hp1 HG01884.hp2 HG03453.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0217 a0001c0001t0014g0218 a0001c0001t0014g0219 a0001c0001t0014g0217 a0001c0001t0014g0218 a0001c0001t0014g0219	3	378	0.0079	44	c.489 others(61): Show c.489+2659_489+2660insATAACTATATAAAATATATAGTTATATA ACTATATAAAATATAT	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535503	T T	TTTTCTTT others(37): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01346.hp2 HG01361.hp2 NA19080.hp1 HG01346.hp2 HG01361.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0015 a0001c0001t0018g0015	3	368	0.0082	44	c.21 others(55): Show c.2179_*2180insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2515		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535560	T T	TTTCCTTC others(37): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0208 a0001c0001t0208	a0001c0001t0208g0262 a0001c0001t0208g0262	1	368	0.0027	44	c.21 others(55): Show c.2122_*2123insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2458		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535563	C C	CTTTCTTT others(37): Show CTTTCTTTCTTTCCTTCCTTCTTTCTTTCTTTCCTTCCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0122 a0001c0001t0122	a0001c0001t0122g0163 a0001c0001t0122g0163	1	368	0.0027	44	c.21 others(55): Show c.2119_*2120insAAAGAAAGGAAGGAAAGAAAGAAAGAAGGAAGGA AAGAAAGAAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2455		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535563	C C	CTTTCTTT others(37): Show CTTTCTTTCTTTCCTTCCTTCTTTCTTTCTTTCCTTTCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0108 a0001c0001t0108	a0001c0001t0108g0097 a0001c0001t0108g0097	1	368	0.0027	44	c.21 others(55): Show c.2119_*2120insAAAGAAAGAAAGGAAAGAAAGAAAGAAGGAAGGA AAGAAAGAAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2455		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535563	C C	CTTTCTTT others(37): Show CTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCCTTTCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0107 a0001c0001t0107	a0001c0001t0107g0096 a0001c0001t0107g0096	1	368	0.0027	44	c.21 others(55): Show c.2119_*2120insAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAGGA AAGAAAGAAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2455		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535563	C C	CTTTCTTT others(37): Show CTTTCTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0134 a0001c0001t0134	a0001c0001t0134g0104 a0001c0001t0134g0104	1	368	0.0027	44	c.21 others(55): Show c.2119_*2120insAAAGGAAAGAAAGAAAGAAAGAAGGAAAGAAAGA AAGAAAGAAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2455		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535563	C C	CTTTCTTT others(37): Show CTTTCTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0075 a0001c0001t0079g0075	1	368	0.0027	44	c.21 others(55): Show c.2119_*2120insAAAAGAAAGAAAGAAAGAAAGAAGGAAAGAAAGA AAGAAAGAAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2455		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535563	C C	CTTTCTTT others(37): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0132 a0001c0001t0132	a0001c0001t0132g0102 a0001c0001t0132g0102	1	368	0.0027	44	c.21 others(55): Show c.2119_*2120insAAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2455		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535567	C C	CTTTCTTT others(37): Show CTTTCTTTCTTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0098 a0001c0001t0098	a0001c0001t0098g0146 a0001c0001t0098g0146	1	368	0.0027	44	c.21 others(55): Show c.2115_*2116insAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGA AAGAAAGAAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2451		chr16	TogoVar
NUPR2_chr7_56109681_56121417	56115415	A A	ACACATAT others(37): Show ACACATATGTATATATATATATATATATACGTATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG04228.hp2 NA19081.hp1 HG04228.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0132 a0001c0001t0001g0116 a0001c0001t0001g0132	2	448	0.0045	44	c.7- others(57): Show c.7-519_*7-518insCACACATATATATACGTATATATATATATATA TATACATATGTG	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NUPR2_chr7_56109681_56121417	56115415	A A	ACACATAT others(37): Show ACACATATGTATATATATATATATATATATACGTATATATATGTG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02083.hp2 HG02602.hp1 others(5): Show HG00673.hp2 HG02083.hp2 HG02602.hp1 HG03017.hp1 HG03831.hp1 NA18957.hp1 NA18959.hp1 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0106 others(3): Show a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0125 a0001c0001t0001g0128	8	448	0.0179	44	c.7- others(57): Show c.7-519_*7-518insCACATATATATACGTATATATATATATATATA TATACATATGTG	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NUPR2_chr7_56109681_56121417	56115417	A A	ATACATAT others(37): Show ATACATATGTATATATATATATATATATACGTATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	448	0.0022	44	c.7- others(57): Show c.7-521_*7-520insCACACATATATATACGTATATATATATATATA TATACATATGTA	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NUPR2_chr7_56109681_56121417	56115435	G G	GTATATAT others(37): Show GTATATATATATATGTGTATATATATATGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00621.hp1 HG00280.hp2 HG00323.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0089 a0001c0001t0003g0044 a0001c0001t0001g0089 a0001c0001t0003g0044	3	448	0.0067	44	c.7- others(57): Show c.7-539_*7-538insTATATATATATATACACATATATATATACACA TATATATATATA	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NUPR2_chr7_56109681_56121417	56115437	G G	GTATATAT others(37): Show GTATATATATATATGTGTATATATATATGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp2 NA19004.hp1 HG01106.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	2	448	0.0045	44	c.7- others(57): Show c.7-541_*7-540insTATATATATATATACACATATATATATACACA TATATATATATA	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NUPR2_chr7_56109681_56121417	56115625	T T	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02896.hp2 HG02897.hp2 others(3): Show HG00639.hp1 HG02896.hp2 HG02897.hp2 HG03195.hp1 HG03516.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0033 a0001c0001t0001g0124 a0001c0001t0001g0125 others(1): Show a0001c0001t0001g0033 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0004g0064	6	448	0.0134	44	c.6+ others(57): Show c.6+389_*6+390insTATATATATATATATATATATATATATATATA TATATATATATA	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NWD1_chr19_16714847_16822953	16736193	T T	TTTCCTTC others(37): Show TTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0004 a0004	a0004c0060 a0004c0060	a0004c0060t0002 a0004c0060t0002	a0004c0060t0002g0125 a0004c0060t0002g0125	1	300	0.0033	44	c.82- others(57): Show c.82-434_82-433insTTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTC CTTCCTTCCTTC	NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
NWD1_chr19_16714847_16822953	16736209	T T	TTTCCTTC others(37): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02055.hp2 HG01167.hp2 HG02055.hp2	a0004 a0005 a0004 a0005	a0004c0005 a0005c0004 a0004c0005 a0005c0004	a0004c0005t0048 a0005c0004t0002 a0004c0005t0048 a0005c0004t0002	a0004c0005t0048g0002 a0005c0004t0002g0039 a0004c0005t0048g0002 a0005c0004t0002g0039	2	300	0.0067	44	c.82- others(57): Show c.82-408_82-407insTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCT	NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453089	T T	TAATATAT others(37): Show TAATATATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	408	0.0025	44	c.25 others(55): Show c.2557_*2558insTATATATATATATATATATATATATATATATATA TATATATATT	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2335		chr19	TogoVar
NXN_chr17_794310_984776	835890	C C	CAGAGGCC others(37): Show CAGAGGCCGCAGGGGAAAAACACCGGTGGGATTCGTCAGCCTCAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	242	0.0041	44	c.361 others(61): Show c.361-9856_361-9813dupATGAGGCTGACGAATCCCACCGGTGTTT TTCCCCTGCGGCCTCT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	853723	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	242	0.0041	44	c.361 others(63): Show c.361-27646_361-27645insAAAAAAAAAAAAAAAATATATATATA TATATATATATATATATA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	955575	A A	AGACGCGG others(37): Show AGACGCGGTGGCTCACGCCTGTAATCCCAGCACCTCGGGAGGCTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0241 a0001c0001t0033g0241	1	242	0.0041	44	c.360 others(63): Show c.360+23743_360+23744insCAGCCTCCCGAGGTGCTGGGATTACA GGCGTGAGCCACCGCGTC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NYAP2_chr2_225394710_225708654	225589516	A A	AAAAAATA others(37): Show AAAAAATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	192	0.0052	44	c.161 others(63): Show c.1618+6482_1618+6483insAAAATATATATATATATATATATATA TATATATATATATATATA	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
NYAP2_chr2_225394710_225708654	225597512	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02135.hp1 HG02135.hp2 others(12): Show HG00741.hp2 HG02135.hp1 HG02135.hp2 HG02257.hp2 HG02818.hp2 HG02922.hp1 HG03669.hp1 HG03710.hp1 HG03942.hp1 HG04184.hp1 NA18612.hp1 NA19010.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0009 a0003c0011	a0001c0001t0001 a0001c0001t0004 a0001c0001t0019 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0019 a0001c0001t0042 a0001c0001t0044 a0001c0002t0001 a0001c0002t0002 a0001c0004t0002 a0001c0004t0029 a0001c0009t0002 a0003c0011t0016	a0001c0001t0001g0027 a0001c0001t0004g0015 a0001c0001t0004g0017 others(12): Show a0001c0001t0001g0027 a0001c0001t0004g0015 a0001c0001t0004g0017 a0001c0001t0019g0087 a0001c0001t0042g0011 a0001c0001t0044g0174 a0001c0002t0001g0052 a0001c0002t0001g0082 a0001c0002t0002g0063 a0001c0004t0002g0001 a0001c0004t0002g0025 a0001c0004t0002g0132 a0001c0004t0029g0173 a0001c0009t0002g0170 a0003c0011t0016g0168	15	192	0.0781	44	c.161 others(65): Show c.1618+14495_1618+14496insATATATATATATATATATATATAT ATATATATATATATATATAT	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
OCA2_chr15_27749875_28104315	27770768	C C	CCCTCCCT others(37): Show CCCTCCCTTCCATCCTTCCTTCCTCCCTCCCTCTTTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02451.hp2 HG03453.hp1 HG01496.hp2 HG02451.hp2 HG03453.hp1	a0001 a0006 a0001 a0006	a0001c0003 a0001c0033 a0006c0023 a0001c0003 a0001c0033 a0006c0023	a0001c0003t0001 a0001c0033t0006 a0006c0023t0001 a0001c0003t0001 a0001c0033t0006 a0006c0023t0001	a0001c0003t0001g0038 a0001c0033t0006g0022 a0006c0023t0001g0093 a0001c0003t0001g0038 a0001c0033t0006g0022 a0006c0023t0001g0093	3	110	0.0273	44	c.243 others(65): Show c.2433-15340_2433-15297dupAAGGAAGGAAAAGAGGGAGGGAGG AAGGAAGGATGGAAGGGAGG	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	23/23			chr15	TogoVar
OCA2_chr15_27749875_28104315	27824602	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0003 a0001c0006t0001g0003	1	110	0.0091	44	c.243 others(65): Show c.2432+20356_2432+20357insTATATATATATATATATATATATA TATATAGAGAGAGAGAGAGA	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	23/23			chr15	TogoVar
OCA2_chr15_27749875_28104315	27824602	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0010 a0001c0004t0002g0010	1	110	0.0091	44	c.243 others(65): Show c.2432+20356_2432+20357insTATATATATATATATATATATAGA GAGAGAGAGAGAGAGAGAGA	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	23/23			chr15	TogoVar
OCA2_chr15_27749875_28104315	27824602	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0009 a0009	a0009c0038 a0009c0038	a0009c0038t0002 a0009c0038t0002	a0009c0038t0002g0018 a0009c0038t0002g0018	1	110	0.0091	44	c.243 others(65): Show c.2432+20356_2432+20357insTATATATATATATATATATAGAGA GAGAGAGAGAGAGAGAGAGA	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	23/23			chr15	TogoVar
OCA2_chr15_27749875_28104315	27824602	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0006 a0006	a0006c0023 a0006c0023	a0006c0023t0001 a0006c0023t0001	a0006c0023t0001g0093 a0006c0023t0001g0093	1	110	0.0091	44	c.243 others(65): Show c.2432+20356_2432+20357insTATATATATATATATATAGAGAGA GAGAGAGAGAGAGAGAGAGA	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	23/23			chr15	TogoVar
OCEL1_chr19_17221226_17234219	17225459	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp2 HG02965.hp2 NA18956.hp2 others(2): Show HG02273.hp2 HG02965.hp2 NA18956.hp2 NA18977.hp2 NA18986.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0003 a0008c0014 a0001c0001 a0002c0003 a0008c0014	a0001c0001t0001 a0002c0003t0001 a0008c0014t0001 a0001c0001t0001 a0002c0003t0001 a0008c0014t0001	a0001c0001t0001g0039 a0002c0003t0001g0002 a0002c0003t0001g0026 others(1): Show a0001c0001t0001g0039 a0002c0003t0001g0002 a0002c0003t0001g0026 a0008c0014t0001g0030	5	444	0.0113	44	c.-78 others(53): Show c.-789_-788insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATA TATATATA	OCEL1	ENSG00000099330.9	transcript	ENST00000215061.9	protein_coding		766		chr19	TogoVar
OCEL1_chr19_17221226_17234219	17225459	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0002	1	444	0.0023	44	c.-78 others(53): Show c.-789_-788insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATA TATATATA	OCEL1	ENSG00000099330.9	transcript	ENST00000215061.9	protein_coding		766		chr19	TogoVar
OCEL1_chr19_17221226_17234219	17225459	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG03139.hp2 HG02559.hp2 HG03139.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0002	2	444	0.0045	44	c.-78 others(53): Show c.-789_-788insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATA TATATATA	OCEL1	ENSG00000099330.9	transcript	ENST00000215061.9	protein_coding		766		chr19	TogoVar
OCEL1_chr19_17221226_17234219	17225459	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0002	1	444	0.0023	44	c.-78 others(53): Show c.-789_-788insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTA TATATATA	OCEL1	ENSG00000099330.9	transcript	ENST00000215061.9	protein_coding		766		chr19	TogoVar
OCEL1_chr19_17221226_17234219	17225459	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG02486.hp1 HG01934.hp1 HG02486.hp1	a0002 a0002	a0002c0003 a0002c0010 a0002c0003 a0002c0010	a0002c0003t0001 a0002c0010t0001 a0002c0003t0001 a0002c0010t0001	a0002c0003t0001g0002 a0002c0010t0001g0002 a0002c0003t0001g0002 a0002c0010t0001g0002	2	444	0.0045	44	c.-78 others(53): Show c.-789_-788insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TATATATA	OCEL1	ENSG00000099330.9	transcript	ENST00000215061.9	protein_coding		766		chr19	TogoVar
OCEL1_chr19_17221226_17234219	17225459	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 NA19075.hp1 HG02698.hp1 NA19075.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0001 a0002c0003t0001g0002 a0001c0002t0001g0001 a0002c0003t0001g0002	2	444	0.0045	44	c.-78 others(53): Show c.-789_-788insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTATATA	OCEL1	ENSG00000099330.9	transcript	ENST00000215061.9	protein_coding		766		chr19	TogoVar
OCEL1_chr19_17221226_17234219	17225459	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0002	1	444	0.0023	44	c.-78 others(53): Show c.-789_-788insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTATA	OCEL1	ENSG00000099330.9	transcript	ENST00000215061.9	protein_coding		766		chr19	TogoVar
OCEL1_chr19_17221226_17234219	17225459	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0002	1	444	0.0023	44	c.-78 others(53): Show c.-789_-788insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTA	OCEL1	ENSG00000099330.9	transcript	ENST00000215061.9	protein_coding		766		chr19	TogoVar
ODAD3_chr19_11415605_11440121	11425333	G G	GTGTATAT others(37): Show GTGTATATATGTGTATATGTACATATGTGTATATATGTACATATA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	398	0.0025	44	c.963 others(59): Show c.963+810_963+811insTATATGTACATATATACACATATGTACATA TACACATATATACA	ODAD3	ENSG00000198003.12	transcript	ENST00000356392.9	protein_coding	7/12			chr19	TogoVar
OGDH_chr7_44601627_44714066	44616875	A A	ATATATAC others(37): Show ATATATACACATATACGTGTATATATATACACATATATATATACG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02809.hp2 NA20300.hp1 HG02258.hp2 HG02809.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0002t0001g0124 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0002t0001g0124	3	306	0.0098	44	c.-27 others(61): Show c.-27-7436_-27-7435insCACATATACGTGTATATATATACACATA TATATATACGTATATA	OGDH	ENSG00000105953.16	transcript	ENST00000222673.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr7	TogoVar

Search by Variant

Search

Search Results (Total: 4475 hits)