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
SLC24A2_chr9_19502455_19794037	19636315	T T	TTTTCTTT others(29): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG03490.hp1 HG03492.hp1 HG01070.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0028 a0001c0002t0003 a0001c0001t0028 a0001c0002t0003	a0001c0001t0028g0169 a0001c0002t0003g0095 a0001c0002t0003g0096 a0001c0001t0028g0169 a0001c0002t0003g0095 a0001c0002t0003g0096	3	188	0.0160	36	c.931 others(55): Show c.931-14017_931-14016insGAAAGAAAGAAAGAAAAGAAAAGAAA AGAAAAGAAA	SLC24A2	ENSG00000155886.12	transcript	ENST00000341998.7	protein_coding	2/10			chr9	TogoVar
SLC24A2_chr9_19502455_19794037	19636386	T T	TCTTTCTT others(29): Show TCTTTCTTTCTTTCTCTCTCCCTCCCTCCCTCCCTCC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0083 a0001c0008t0083	a0001c0008t0083g0129 a0001c0008t0083g0129	1	188	0.0053	36	c.931 others(55): Show c.931-14088_931-14087insGGAGGGAGGGAGGGAGGGAGAGAGAA AGAAAGAAAG	SLC24A2	ENSG00000155886.12	transcript	ENST00000341998.7	protein_coding	2/10			chr9	TogoVar
SLC24A2_chr9_19502455_19794037	19636386	T T	TCTTTCTT others(29): Show TCTTTCTTTCTTTCTTCCTTCCTTCCTTCCTCCCTCC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0182 a0001c0001t0011g0182	1	188	0.0053	36	c.931 others(55): Show c.931-14088_931-14087insGGAGGGAGGAAGGAAGGAAGGAAGAA AGAAAGAAAG	SLC24A2	ENSG00000155886.12	transcript	ENST00000341998.7	protein_coding	2/10			chr9	TogoVar
SLC24A2_chr9_19502455_19794037	19636386	T T	TCTTTCTT others(29): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0112 a0001c0004t0001g0112	1	188	0.0053	36	c.931 others(55): Show c.931-14088_931-14087insGGAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAG	SLC24A2	ENSG00000155886.12	transcript	ENST00000341998.7	protein_coding	2/10			chr9	TogoVar
SLC24A3_chr20_19207642_19727926	19222783	C C	CCCTCCCT others(29): Show CCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG00621.hp1 HG00621.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0004c0016 a0001c0003 a0004c0016	a0001c0003t0002 a0004c0016t0001 a0001c0003t0002 a0004c0016t0001	a0001c0003t0002g0128 a0004c0016t0001g0129 a0001c0003t0002g0128 a0004c0016t0001g0129	2	160	0.0125	36	c.142 others(53): Show c.142+9802_142+9803insCCCTCCCTCCCTCCCTTCCTTCCTTCCT TCCTTCCT	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC24A4_chr14_92318165_92506481	92343653	T T	TTTCCTTC others(29): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0111 a0001c0001t0005g0111	1	282	0.0036	36	c.241 others(55): Show c.241+17690_241+17725dupCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTT	SLC24A4	ENSG00000140090.18	transcript	ENST00000532405.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr14	TogoVar
SLC25A13_chr7_96115220_96327098	96134793	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00673.hp1 others(13): Show HG00099.hp2 HG00408.hp2 HG00673.hp1 HG01928.hp2 HG01993.hp1 HG02074.hp2 HG02083.hp1 HG02886.hp2 NA18747.hp2 NA18946.hp2 NA18965.hp2 NA18967.hp1 NA18981.hp1 NA18983.hp1 NA19002.hp1 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0011 a0001c0002 a0002c0011	a0001c0002t0001 a0001c0002t0007 a0002c0011t0001 a0001c0002t0001 a0001c0002t0007 a0002c0011t0001	a0001c0002t0001g0005 a0001c0002t0001g0046 a0001c0002t0001g0156 others(13): Show a0001c0002t0001g0005 a0001c0002t0001g0046 a0001c0002t0001g0156 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0172 a0001c0002t0001g0175 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0182 a0001c0002t0001g0233 a0001c0002t0001g0239 a0001c0002t0001g0257 a0001c0002t0001g0260 a0001c0002t0007g0155 a0002c0011t0001g0249	16	276	0.0580	36	c.145 others(55): Show c.1453-2913_1453-2912insTATATATATATATATATATATATATA TATATATATA	SLC25A13	ENSG00000004864.14	transcript	ENST00000265631.10	protein_coding	14/17			chr7	TogoVar
SLC25A13_chr7_96115220_96327098	96168098	G G	GAAAAAAA others(29): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 NA19088.hp1 HG01261.hp1 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0235 a0001c0002t0001g0243 a0001c0002t0001g0235 a0001c0002t0001g0243	2	276	0.0073	36	c.131 others(55): Show c.1311+1946_1311+1947insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	SLC25A13	ENSG00000004864.14	transcript	ENST00000265631.10	protein_coding	13/17			chr7	TogoVar
SLC25A17_chr22_40764630_40824346	40820663	T T	TAAAAAAA others(29): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	326	0.0031	36	c.-14 others(47): Show c.-1416_-1415insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	SLC25A17	ENSG00000100372.15	transcript	ENST00000435456.7	protein_coding		1318		chr22	TogoVar
SLC25A17_chr22_40764630_40824346	40821760	A A	ATATATAT others(29): Show ATATATATATACGTATATATATATACGTATATATACG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0281 a0001c0001t0002g0281	1	326	0.0031	36	c.-25 others(47): Show c.-2513_-2512insCGTATATATACGTATATATATATACGTATATATA TA	SLC25A17	ENSG00000100372.15	transcript	ENST00000435456.7	protein_coding		2415		chr22	TogoVar
SLC25A21_chr14_36672921_37177606	36764070	A A	AAGAAAGA others(29): Show AAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	164	0.0061	36	c.204 others(55): Show c.204-29498_204-29497insCTCTCTCTCTCTCTCTCTCTCTCTTT CTTTCTTTCT	SLC25A21	ENSG00000183032.12	transcript	ENST00000331299.6	protein_coding	3/9			chr14	TogoVar
SLC25A21_chr14_36672921_37177606	36764074	A A	AAGAAAGA others(29): Show AAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0080 a0001c0001t0004g0080	1	164	0.0061	36	c.204 others(55): Show c.204-29502_204-29501insCTCTCTCTCTCTCTCTTTCTTTCTTT CTTTCTTTCT	SLC25A21	ENSG00000183032.12	transcript	ENST00000331299.6	protein_coding	3/9			chr14	TogoVar
SLC25A21_chr14_36672921_37177606	36764079	A A	AGAAAGAA others(29): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0003 a0001c0002t0003g0003	1	164	0.0061	36	c.204 others(55): Show c.204-29507_204-29506insCTTCCTTCCTTCTTTCTTTCTTTCTT TCTTTCTTTC	SLC25A21	ENSG00000183032.12	transcript	ENST00000331299.6	protein_coding	3/9			chr14	TogoVar
SLC25A21_chr14_36672921_37177606	36764079	A A	AGAAAGAA others(29): Show AGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0117 a0002c0003t0008g0117	1	164	0.0061	36	c.204 others(55): Show c.204-29507_204-29506insCTTCCTTCCTTCCTTCTTTCTTTCTT TCTTTCTTTC	SLC25A21	ENSG00000183032.12	transcript	ENST00000331299.6	protein_coding	3/9			chr14	TogoVar
SLC25A21_chr14_36672921_37177606	36764079	A A	AGAAAGAA others(29): Show AGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0010 a0001c0001t0004g0010	1	164	0.0061	36	c.204 others(55): Show c.204-29507_204-29506insCTTCCTTCCTTCCTTCCTTCTTTCTT TCTTTCTTTC	SLC25A21	ENSG00000183032.12	transcript	ENST00000331299.6	protein_coding	3/9			chr14	TogoVar
SLC25A21_chr14_36672921_37177606	36764079	A A	AGAAAGAA others(29): Show AGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	164	0.0061	36	c.204 others(55): Show c.204-29507_204-29506insCTTCCTTCCTTCCTTCCTTCCTTCTT TCTTTCTTTC	SLC25A21	ENSG00000183032.12	transcript	ENST00000331299.6	protein_coding	3/9			chr14	TogoVar
SLC25A21_chr14_36672921_37177606	36764079	A A	AGAAAGAA others(29): Show AGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0158 a0001c0001t0015g0158	1	164	0.0061	36	c.204 others(55): Show c.204-29507_204-29506insCTTCCTTCCTTCCTTCCTTCCTTCCT TCTTTCTTTC	SLC25A21	ENSG00000183032.12	transcript	ENST00000331299.6	protein_coding	3/9			chr14	TogoVar
SLC25A21_chr14_36672921_37177606	36764143	G G	GGAAAGAA others(29): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	164	0.0061	36	c.204 others(55): Show c.204-29606_204-29571dupTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTC	SLC25A21	ENSG00000183032.12	transcript	ENST00000331299.6	protein_coding	3/9			chr14	TogoVar
SLC25A21_chr14_36672921_37177606	36810878	A A	AAGAAAAG others(29): Show AAGAAAAGAGTGGGGGAAATAATTCAGCATATGATAG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG02055.hp1 others(14): Show HG01257.hp1 HG01258.hp2 HG02055.hp1 HG02055.hp2 HG02257.hp2 HG02572.hp2 HG02630.hp2 HG02922.hp2 HG02976.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03516.hp1 HG03516.hp2 HG04199.hp2 NA19077.hp2 NA19081.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0002t0001 a0002c0003t0008 a0003c0005t0009	a0001c0001t0001g0056 a0001c0001t0001g0152 a0001c0001t0002g0058 others(14): Show a0001c0001t0001g0056 a0001c0001t0001g0152 a0001c0001t0002g0058 a0001c0001t0002g0134 a0001c0001t0003g0007 a0001c0001t0004g0002 a0001c0001t0004g0135 a0001c0001t0006g0038 a0001c0001t0006g0137 a0001c0001t0009g0022 a0001c0001t0009g0070 a0001c0001t0009g0121 a0001c0002t0001g0039 a0001c0002t0001g0045 a0001c0002t0001g0057 a0002c0003t0008g0117 a0003c0005t0009g0044	17	164	0.1037	36	c.203 others(53): Show c.203+3004_203+3039dupCTATCATATGCTGAATTATTTCCCCCAC TCTTTTCT	SLC25A21	ENSG00000183032.12	transcript	ENST00000331299.6	protein_coding	3/9			chr14	TogoVar
SLC25A21_chr14_36672921_37177606	36810924	T T	TGGGGGAA others(29): Show TGGGGGAAATAATTCAGCATATGATAGAGAAAAGAGC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0114 a0002c0003t0008g0114	1	164	0.0061	36	c.203 others(53): Show c.203+2993_203+2994insGCTCTTTTCTCTATCATATGCTGAATTA TTTCCCCC	SLC25A21	ENSG00000183032.12	transcript	ENST00000331299.6	protein_coding	3/9			chr14	TogoVar
SLC25A21_chr14_36672921_37177606	37040248	A A	AAGGGAGG others(29): Show AAGGGAGGGAGGGAGGGAGGGAGGGAAGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0095 a0001c0001t0003g0095	1	164	0.0061	36	c.70+ others(55): Show c.70+132032_70+132033insCCCTCCCTCCTTCCCTCCCTCCCTCC CTCCCTCCCT	SLC25A21	ENSG00000183032.12	transcript	ENST00000331299.6	protein_coding	1/9			chr14	TogoVar
SLC25A21_chr14_36672921_37177606	37040268	G G	GAGGGAGG others(29): Show GAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03471.hp2 NA19030.hp1 HG02886.hp2 HG03471.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0015 a0001c0001t0001 a0001c0001t0011 a0001c0001t0015	a0001c0001t0001g0145 a0001c0001t0011g0162 a0001c0001t0015g0159 a0001c0001t0001g0145 a0001c0001t0011g0162 a0001c0001t0015g0159	3	164	0.0183	36	c.70+ others(55): Show c.70+132012_70+132013insTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTCCCT	SLC25A21	ENSG00000183032.12	transcript	ENST00000331299.6	protein_coding	1/9			chr14	TogoVar
SLC25A21_chr14_36672921_37177606	37040268	G G	GAGGGAGG others(29): Show GAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0045 a0001c0002t0001g0045	1	164	0.0061	36	c.70+ others(55): Show c.70+132012_70+132013insTCCTTCCTTCCTTCCTTCCTTCCTTC CTCCCTCCCT	SLC25A21	ENSG00000183032.12	transcript	ENST00000331299.6	protein_coding	1/9			chr14	TogoVar
SLC25A21_chr14_36672921_37177606	37040289	A A	AGGAAGGA others(29): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	164	0.0061	36	c.70+ others(55): Show c.70+131991_70+131992insCTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCC	SLC25A21	ENSG00000183032.12	transcript	ENST00000331299.6	protein_coding	1/9			chr14	TogoVar
SLC25A24_chr1_108129043_108205343	108187922	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0218 a0001c0001t0004g0218	1	374	0.0027	36	c.184 others(53): Show c.184-1969_184-1968insTATATATATATATATATATATATATATA TATATATA	SLC25A24	ENSG00000085491.17	transcript	ENST00000565488.6	protein_coding	1/9			chr1	TogoVar
SLC25A24_chr1_108129043_108205343	108187927	G G	GATAGATA others(29): Show GATAGATAGATAGATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00408.hp1 others(8): Show HG00140.hp2 HG00280.hp1 HG00408.hp1 HG01169.hp1 HG03688.hp1 HG04204.hp1 NA18941.hp1 NA18954.hp2 NA18991.hp2 NA19003.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0207 a0001c0001t0001g0275 others(7): Show a0001c0001t0001g0020 a0001c0001t0001g0207 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0292 a0001c0001t0001g0296 a0001c0001t0001g0310	11	374	0.0294	36	c.184 others(53): Show c.184-1974_184-1973insATATATATATATATATATATATATCTAT CTATCTAT	SLC25A24	ENSG00000085491.17	transcript	ENST00000565488.6	protein_coding	1/9			chr1	TogoVar
SLC25A24_chr1_108129043_108205343	108187927	G G	GATAGATA others(29): Show GATAGATAGATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01071.hp1 HG01361.hp1 others(12): Show HG00438.hp2 HG01071.hp1 HG01361.hp1 HG02056.hp2 HG02155.hp2 HG03491.hp1 HG03704.hp1 HG03710.hp1 NA18950.hp2 NA18953.hp1 NA18955.hp2 NA18985.hp2 NA18986.hp2 NA18998.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0017 a0001c0001t0001g0239 a0001c0001t0001g0240 others(11): Show a0001c0001t0001g0017 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0306 a0001c0001t0001g0329 a0001c0001t0002g0117	15	374	0.0401	36	c.184 others(53): Show c.184-1974_184-1973insATATATATATATATATATATATATATAT CTATCTAT	SLC25A24	ENSG00000085491.17	transcript	ENST00000565488.6	protein_coding	1/9			chr1	TogoVar
SLC25A24_chr1_108129043_108205343	108187927	G G	GATAGATA others(29): Show GATAGATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01346.hp2 HG01192.hp1 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0222 a0001c0001t0001g0223	2	374	0.0054	36	c.184 others(53): Show c.184-1974_184-1973insATATATATATATATATATATATATATAT ATATCTAT	SLC25A24	ENSG00000085491.17	transcript	ENST00000565488.6	protein_coding	1/9			chr1	TogoVar
SLC25A2_chr5_141297635_141309049	141302069	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0000 a0004c0005t0002g0000	1	414	0.0024	36	c.89 others(45): Show c.890_*891insATATATATATATATATATATATATATATATATATAT	SLC25A2	ENSG00000120329.7	transcript	ENST00000239451.7	protein_coding		565		chr5	TogoVar
SLC25A35_chr17_8285061_8300400	8299427	C C	CTGGGCAT others(29): Show CTGGGCATGGTGGCTCAGGCCTGTAATCCCAGCACTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0015 a0001c0001t0010g0015	1	400	0.0025	36	c.-46 others(47): Show c.-4621_-4620insAAGTGCTGGGATTACAGGCCTGAGCCACCATGCC CA	SLC25A35	ENSG00000125434.11	transcript	ENST00000577745.2	protein_coding		4028		chr17	TogoVar
SLC25A36_chr3_140936836_140985995	140983543	A A	ATATATAT others(29): Show ATATATATATATATATATGTATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG03516.hp1 HG02145.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0014 a0001c0001t0007g0065 a0001c0001t0007g0014 a0001c0001t0007g0065	2	270	0.0074	36	c.70 others(47): Show c.7090_*7091insTATATATATATATATATGTATATATATATATATA TG	SLC25A36	ENSG00000114120.14	transcript	ENST00000324194.12	protein_coding		2549		chr3	TogoVar
SLC25A36_chr3_140936836_140985995	140983565	A A	ATATATAT others(29): Show ATATATATATATATATATGTATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0014 a0001c0001t0060g0014	1	270	0.0037	36	c.71 others(47): Show c.7112_*7113insTATATATATATATATATGTATATATATATATATA TG	SLC25A36	ENSG00000114120.14	transcript	ENST00000324194.12	protein_coding		2571		chr3	TogoVar
SLC25A41_chr19_6421037_6438763	6435789	A A	AGAGGCTG others(29): Show AGAGGCTGCAGTGAGCTATGATTGTGCCACTGCACTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0033 a0003c0004t0002g0033	1	350	0.0029	36	c.-20 others(47): Show c.-2097_-2096insGAGTGCAGTGGCACAATCATAGCTCACTGCAGCC TC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding		2027		chr19	TogoVar
SLC25A6_chrX_1381152_1397113	1382205	T T	TCCTGCTG others(29): Show TCCTGCTGGGATTACAGGTGTGACCCACCGCGCCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG03195.hp1 HG03486.hp2 others(1): Show HG02809.hp1 HG03195.hp1 HG03486.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0001t0008 a0001c0010t0001 a0001c0001t0001 a0001c0001t0008 a0001c0010t0001	a0001c0001t0001g0046 a0001c0001t0001g0058 a0001c0001t0008g0028 others(1): Show a0001c0001t0001g0046 a0001c0001t0001g0058 a0001c0001t0008g0028 a0001c0010t0001g0044	4	196	0.0204	36	c.43 others(47): Show c.4396_*4397insCCAGGCGCGGTGGGTCACACCTGTAATCCCAGCA GG	SLC25A6	ENSG00000169100.14	transcript	ENST00000381401.11	protein_coding		3946		chrX	TogoVar
SLC26A4_chr7_107655828_107722809	107680277	A A	AATATAAT others(29): Show AATATAATCTTATATTATTATATAATCTTATATTATT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02895.hp2 HG02896.hp2 others(1): Show HG02615.hp2 HG02895.hp2 HG02896.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0025 a0001c0001t0001g0185 a0001c0001t0001g0191 others(1): Show a0001c0001t0001g0025 a0001c0001t0001g0185 a0001c0001t0001g0191 a0001c0001t0003g0190	4	366	0.0109	36	c.766 others(53): Show c.766-2913_766-2912insATTATTATATAATCTTATATTATTATAT AATCTTAT	SLC26A4	ENSG00000091137.14	transcript	ENST00000644269.2	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr7	TogoVar
SLC26A4_chr7_107655828_107722809	107680300	A A	AATCTTAT others(29): Show AATCTTATCTTATATTATTATATAATCTTAGCTTATT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02895.hp1 HG02896.hp1 others(1): Show HG02818.hp2 HG02895.hp1 HG02896.hp1 HG03195.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0007 a0004c0004t0009 a0001c0001t0007 a0004c0004t0009	a0001c0001t0007g0181 a0004c0004t0009g0007 a0004c0004t0009g0018 others(1): Show a0001c0001t0007g0181 a0004c0004t0009g0007 a0004c0004t0009g0018 a0004c0004t0009g0029	4	366	0.0109	36	c.766 others(53): Show c.766-2900_766-2899insCTTATCTTATATTATTATATAATCTTAG CTTATTAT	SLC26A4	ENSG00000091137.14	transcript	ENST00000644269.2	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr7	TogoVar
SLC26A4_chr7_107655828_107722809	107680380	G G	GTTATATT others(29): Show GTTATATTATTATATAATCTTATCTTATTATATAATC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0078 a0002c0002t0013g0078	1	366	0.0027	36	c.766 others(53): Show c.766-2805_766-2770dupTCTTATCTTATTATATAATCTTATATTA TTATATAA	SLC26A4	ENSG00000091137.14	transcript	ENST00000644269.2	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr7	TogoVar
SLC26A6_chr3_48620723_48640461	48638651	G G	GTGCGACT others(29): Show GTGCGACTCCAGAGCCTGGACCCCTGCTCAGTCCCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02970.hp1 HG03130.hp1 others(2): Show HG01891.hp2 HG02970.hp1 HG03130.hp1 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	280	0.0179	36	c.-32 others(47): Show c.-3294_-3259dupTAGGGACTGAGCAGGGGTCCAGGCTCTGGAGTCG CA	SLC26A6	ENSG00000225697.13	transcript	ENST00000395550.7	protein_coding		3191		chr3	TogoVar
SLC27A5_chr19_58493333_58516992	58502494	A A	AACAGTTA others(29): Show AACAGTTAGAGTAGTGAGTGAGTGGATGGATGGGTGG	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	424	0.0024	36	c.105 others(55): Show c.1058-1085_1058-1084insCCACCCATCCATCCACTCACTCACTA CTCTAACTGT	SLC27A5	ENSG00000083807.10	transcript	ENST00000263093.7	protein_coding	3/9			chr19	TogoVar
SLC27A5_chr19_58493333_58516992	58502652	A A	AAGATGGA others(29): Show AAGATGGATGGGTGAACAGTTAGAGTAGTGAGTGAGT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	424	0.0024	36	c.105 others(55): Show c.1058-1278_1058-1243dupACTCACTCACTACTCTAACTGTTCAC CCATCCATCT	SLC27A5	ENSG00000083807.10	transcript	ENST00000263093.7	protein_coding	3/9			chr19	TogoVar
SLC27A5_chr19_58493333_58516992	58502652	A A	AAGATGGA others(29): Show AAGATGGATGGGTGGACAGTTAGAGTAGTGAGTGAGT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18986.hp1 NA18960.hp1 NA18986.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0063 a0002c0002t0001g0064	2	424	0.0047	36	c.105 others(55): Show c.1058-1243_1058-1242insACTCACTCACTACTCTAACTGTCCAC CCATCCATCT	SLC27A5	ENSG00000083807.10	transcript	ENST00000263093.7	protein_coding	3/9			chr19	TogoVar
SLC27A5_chr19_58493333_58516992	58502666	A A	AACAGTTA others(29): Show AACAGTTAGAGTAGTGAGTGAGTAGATGGATGGGTGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00733.hp1 HG00735.hp1 others(35): Show HG00280.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01081.hp1 HG01106.hp2 HG01258.hp1 HG01496.hp1 HG01934.hp1 HG01993.hp2 HG02071.hp1 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02559.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp2 HG02738.hp2 HG02896.hp1 HG02965.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03490.hp2 HG03688.hp2 HG03831.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18942.hp1 NA18983.hp2 NA19043.hp2 NA19082.hp2 NA19084.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0005 a0001c0001 a0002c0002 a0003c0005	a0001c0001t0001 a0002c0002t0001 a0003c0005t0001 a0001c0001t0001 a0002c0002t0001 a0003c0005t0001	a0001c0001t0001g0084 a0001c0001t0001g0204 a0002c0002t0001g0008 others(19): Show a0001c0001t0001g0084 a0001c0001t0001g0204 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0015 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0003c0005t0001g0021 a0003c0005t0001g0049	38	424	0.0896	36	c.105 others(55): Show c.1058-1292_1058-1257dupCCACCCATCCATCTACTCACTCACTA CTCTAACTGT	SLC27A5	ENSG00000083807.10	transcript	ENST00000263093.7	protein_coding	3/9			chr19	TogoVar
SLC27A5_chr19_58493333_58516992	58502738	G G	GACAGTTA others(29): Show GACAGTTAGAGTAGTGAGTGAGAAGATGGATGGGTGA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	424	0.0024	36	c.105 others(55): Show c.1058-1329_1058-1328insTCACCCATCCATCTTCTCACTCACTA CTCTAACTGT	SLC27A5	ENSG00000083807.10	transcript	ENST00000263093.7	protein_coding	3/9			chr19	TogoVar
SLC27A5_chr19_58493333_58516992	58502771	G G	GTGGACAG others(29): Show GTGGACAGTTAGAGTAGTGAGTGAGTAGATGGATGGC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	424	0.0024	36	c.105 others(55): Show c.1058-1397_1058-1362dupGCCATCCATCTACTCACTCACTACTC TAACTGTCCA	SLC27A5	ENSG00000083807.10	transcript	ENST00000263093.7	protein_coding	3/9			chr19	TogoVar
SLC27A5_chr19_58493333_58516992	58502807	C C	CTGGACAG others(29): Show CTGGACAGTTAGAGTAGTGAGTGAGTAGATGGATGGG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	424	0.0024	36	c.105 others(55): Show c.1058-1433_1058-1398dupCCCATCCATCTACTCACTCACTACTC TAACTGTCCA	SLC27A5	ENSG00000083807.10	transcript	ENST00000263093.7	protein_coding	3/9			chr19	TogoVar
SLC28A1_chr15_84879662_84950798	84889689	C C	CTTCCTTC others(29): Show CTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCT	intron_variant intron_variant	MODIFIER	HG00738.hp1 NA18989.hp1 NA19087.hp1 HG00738.hp1 NA18989.hp1 NA19087.hp1	a0001 a0014 a0001 a0014	a0001c0025 a0014c0022 a0001c0025 a0014c0022	a0001c0025t0001 a0014c0022t0001 a0001c0025t0001 a0014c0022t0001	a0001c0025t0001g0256 a0001c0025t0001g0257 a0014c0022t0001g0258 a0001c0025t0001g0256 a0001c0025t0001g0257 a0014c0022t0001g0258	3	396	0.0076	36	c.186 others(51): Show c.186-751_186-750insCTTCCTTCCTTCCTTCCTTCTTTCCTTCCT TCTTTC	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC28A1_chr15_84879662_84950798	84899940	A A	AAAGGAAG others(29): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0101 a0002c0001t0001g0101	1	396	0.0025	36	c.462 others(53): Show c.462-4131_462-4130insGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAA	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC28A1_chr15_84879662_84950798	84920701	G G	GGTGTGTG others(29): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA19043.hp1 HG02451.hp1 NA19043.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0024 a0001c0002 a0004c0024	a0001c0002t0002 a0004c0024t0001 a0001c0002t0002 a0004c0024t0001	a0001c0002t0002g0241 a0004c0024t0001g0382 a0001c0002t0002g0241 a0004c0024t0001g0382	2	396	0.0051	36	c.877 others(51): Show c.877-287_877-286insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTG	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC28A1_chr15_84879662_84950798	84928616	T T	TTCTTTCT others(29): Show TTCTTTCTTTCTTCTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0068 a0001c0002t0001g0068	1	396	0.0025	36	c.108 others(55): Show c.1083+4507_1083+4508insCTTTCTTTCTTCTTCTTTCTTTCTTT CTTTCTTTCT	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC2A12_chr6_133982581_134057624	133987660	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02683.hp2 HG02895.hp2 HG02683.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0223 a0001c0001t0021g0277 a0001c0001t0021g0223 a0001c0001t0021g0277	2	338	0.0059	36	c.34 others(47): Show c.3494_*3495insCATATATATATATATATATATATATATATATATA TA	SLC2A12	ENSG00000146411.6	transcript	ENST00000275230.6	protein_coding	5/5	3494		chr6	TogoVar

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Search Results (Total: 8848 hits)