Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
A2ML1_chr12_8817621_8881787	8840978	A A	AGAAGGAA others(25): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0080 a0002c0004t0003g0101 a0002c0004t0003g0080 a0002c0004t0003g0101	2	265	0.0075	32	c.108 others(49): Show c.1081-388_1081-357dupAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGA	A2ML1	ENSG00000166535.20	transcript	ENST00000299698.12	protein_coding	10/35		INFO_REALIGN_3_PRIME	chr12	TogoVar
A2ML1_chr12_8817621_8881787	8841009	A A	AGGAAGGA others(25): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAC	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp2 NA18975.hp1 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0142 a0001c0001t0002g0181 a0001c0001t0001g0142 a0001c0001t0002g0181	2	109	0.0183	32	c.108 others(49): Show c.1081-357_1081-356insAGGAAGGAAGGAAGGAAGGAAGGAAGGA CGGA	A2ML1	ENSG00000166535.20	transcript	ENST00000299698.12	protein_coding	10/35		INFO_REALIGN_3_PRIME	chr12	TogoVar
A2ML1_chr12_8817621_8881787	8841009	A A	AGGAAGGA others(25): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGACGGAC	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0267 a0001c0003t0003g0267	1	108	0.0093	32	c.108 others(49): Show c.1081-357_1081-356insAGGAAGGAAGGAAGGAAGGAAGGACGGA CGGA	A2ML1	ENSG00000166535.20	transcript	ENST00000299698.12	protein_coding	10/35		INFO_REALIGN_3_PRIME	chr12	TogoVar
A4GALT_chr22_42687121_42725870	42703106	C C	CTGTGTGT others(25): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG03225.hp2 HG00140.hp2 HG03225.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0008 a0002c0003t0001 a0002c0003t0008	a0002c0003t0001g0282 a0002c0003t0008g0055 a0002c0003t0001g0282 a0002c0003t0008g0055	2	13	0.1538	32	c.-18 others(51): Show c.-187-7507_-187-7476dupCACACACACACACACACACACACACA CACACA	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
A4GALT_chr22_42687121_42725870	42708545	A A	AGAAGGAA others(25): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01261.hp2 HG02056.hp1 others(6): Show HG00597.hp1 HG01261.hp2 HG02056.hp1 NA18944.hp1 NA18955.hp2 NA19077.hp2 NA19079.hp1 NA19085.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0002t0002 a0001c0002t0005 others(2): Show a0001c0001t0002 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0002c0003t0001	a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0158 others(6): Show a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0158 a0001c0001t0002g0194 a0001c0001t0002g0214 a0001c0002t0002g0199 a0001c0002t0005g0201 a0001c0002t0006g0215 a0002c0003t0001g0253	9	82	0.1098	32	c.-18 others(53): Show c.-188+12220_-188+12251dupCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTC	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
AADACL2_chr3_151728927_151766339	151731938	G G	GAGATAGA others(25): Show GAGATAGATAGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 NA18977.hp2 NA19004.hp1 HG02738.hp2 NA18977.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0060 a0001c0001t0003g0063 a0001c0001t0006g0035 a0001c0001t0003g0060 a0001c0001t0003g0063 a0001c0001t0006g0035	3	96	0.0313	32	c.-20 others(43): Show c.-2098_-2097insAGATAGATAGATAGATAGATAGATAGATAGAT	AADACL2	ENSG00000197953.6	transcript	ENST00000356517.4	protein_coding		1988		chr3	TogoVar
AADACL2_chr3_151728927_151766339	151732062	C C	CATCTATA others(25): Show CATCTATATATCTATATACATCTATATATCTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0006	1	426	0.0023	32	c.-19 others(43): Show c.-1974_-1973insATCTATATATCTATATACATCTATATATCTAT	AADACL2	ENSG00000197953.6	transcript	ENST00000356517.4	protein_coding		1864		chr3	TogoVar
AADACL4_chr1_12639085_12672076	12658139	C C	CCTTCCTT others(25): Show CCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0042 a0001c0002t0004g0042	1	244	0.0041	32	c.386 others(49): Show c.386-3649_386-3648insCCTTCCTTCCTTCCTTTCTTTCTTTCTT TCTT	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12658139	C C	CCTTCCTT others(25): Show CCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0040 a0001c0002t0004g0040	1	244	0.0041	32	c.386 others(49): Show c.386-3649_386-3648insCCTTCCTTCCTTTCTTTCTTTCTTTCTT TCTT	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12658139	C C	CCTTCCTT others(25): Show CCTTCCTTTCTTCCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	244	0.0041	32	c.386 others(49): Show c.386-3649_386-3648insCCTTTCTTCCTTTCTTTCTTTCTTTCTT TCTT	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
AAGAB_chr15_67195667_67259661	67222242	G G	GCGCACAC others(25): Show GCGCACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0142 a0002c0002t0003g0142	1	244	0.0041	32	c.535 others(49): Show c.535+9571_535+9572insTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGCG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222282	A A	ACACACAC others(25): Show ACACACACACACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19083.hp2 NA19010.hp2 NA19083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0023 a0002c0002t0003g0184 a0002c0002t0003g0023 a0002c0002t0003g0184	2	272	0.0074	32	c.535 others(49): Show c.535+9531_535+9532insGGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAK1_chr2_69452997_69648739	69493158	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0003 a0003	a0003c0020 a0003c0020	a0003c0020t0079 a0003c0020t0079	a0003c0020t0079g0105 a0003c0020t0079g0105	1	70	0.0143	32	c.236 others(51): Show c.2365+2826_2365+2827insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	17/21			chr2	TogoVar
AARSD1_chr17_42945526_42969454	42967395	A A	AATATATA others(25): Show AATATATAAAATATATATTATATAATATAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	234	0.0043	32	c.-29 others(43): Show c.-2956_-2955insATTTTATATTATATAATATATATTTTATATAT	AARSD1	ENSG00000266967.7	transcript	ENST00000427569.7	protein_coding		2942		chr17	TogoVar
AATK_chr17_81112295_81171221	81119229	T T	TGGGGCCG others(25): Show TGGGGCCGGGAAGGAGCGGGGCCGGGAAGGAGC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG02451.hp1 others(1): Show HG01884.hp1 HG02055.hp1 HG02451.hp1 HG02976.hp1	a0006 a0015 a0006 a0015	a0006c0042 a0006c0056 a0015c0028 a0006c0042 a0006c0056 a0015c0028	a0006c0042t0001 a0006c0056t0001 a0015c0028t0001 a0006c0042t0001 a0006c0056t0001 a0015c0028t0001	a0006c0042t0001g0335 a0006c0056t0001g0332 a0015c0028t0001g0342 others(1): Show a0006c0042t0001g0335 a0006c0056t0001g0332 a0015c0028t0001g0342 a0015c0028t0001g0343	4	102	0.0392	32	c.408 others(49): Show c.4084+119_4084+150dupGCTCCTTCCCGGCCCCGCTCCTTCCCGG CCCC	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	13/13			chr17	TogoVar
AATK_chr17_81112295_81171221	81119342	C C	CCGCGTGC others(25): Show CCGCGTGCCCTGCCTCCCGCGTGCCCTACCTCT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0006 a0006	a0006c0069 a0006c0069	a0006c0069t0001 a0006c0069t0001	a0006c0069t0001g0340 a0006c0069t0001g0340	1	74	0.0135	32	c.408 others(47): Show c.4084+37_4084+38insAGAGGTAGGGCACGCGGGAGGCAGGGCACG CG	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	13/13			chr17	TogoVar
ABAT_chr16_8669617_8789570	8710727	A A	AGAGAGAG others(25): Show AGAGAGAGAGAGAGAGAGAGAGGGAGAGGGAGG	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA18951.hp1 NA19070.hp1 HG02698.hp1 NA18951.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0101 a0001c0001t0001g0210 a0001c0003t0003g0102 a0001c0001t0001g0101 a0001c0001t0001g0210 a0001c0003t0003g0102	3	104	0.0288	32	c.-41 others(51): Show c.-41-24969_-41-24968insAGAGAGAGAGAGAGAGAGGGAGAGGG AGGGAG	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8737989	G G	GAAGAAAG others(25): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02258.hp1 HG02451.hp1 others(2): Show HG01975.hp1 HG02258.hp1 HG02451.hp1 HG02486.hp2 HG02717.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0007 others(1): Show a0001c0001 a0002c0002 a0002c0007 a0002c0009	a0001c0001t0003 a0002c0002t0001 a0002c0007t0011 others(2): Show a0001c0001t0003 a0002c0002t0001 a0002c0007t0011 a0002c0007t0014 a0002c0009t0002	a0001c0001t0003g0131 a0002c0002t0001g0039 a0002c0007t0011g0004 others(2): Show a0001c0001t0003g0131 a0002c0002t0001g0039 a0002c0007t0011g0004 a0002c0007t0014g0033 a0002c0009t0002g0315	5	76	0.0658	32	c.70+ others(47): Show c.70+2181_70+2182insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8737989	G G	GAAGGAAG others(25): Show GAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0003 a0002c0008t0003	a0002c0008t0003g0015 a0002c0008t0003g0015	1	72	0.0139	32	c.70+ others(47): Show c.70+2181_70+2182insAGGAAGGAAGAAAGAAAGAAAGAAAGAAAG AA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8737989	G G	GAAGGAAG others(25): Show GAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	72	0.0139	32	c.70+ others(47): Show c.70+2181_70+2182insAGGAAGGAAGGAAGAAAGAAAGAAAGAAAG AA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8743423	T T	TTATATAA others(25): Show TTATATAAACAGTTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0319 a0001c0001t0001g0319	1	274	0.0036	32	c.71- others(47): Show c.71-2572_71-2571insAACAGTTATATATATATATATATATATATA TA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8743444	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18967.hp1 NA18971.hp2 others(3): Show HG02135.hp1 NA18967.hp1 NA18971.hp2 NA18999.hp1 NA19007.hp2 NA19009.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0002 a0002c0002t0004 a0002c0004t0003 a0002c0002t0002 a0002c0002t0004 a0002c0004t0003	a0002c0002t0002g0188 a0002c0002t0002g0191 a0002c0002t0004g0054 others(3): Show a0002c0002t0002g0188 a0002c0002t0002g0191 a0002c0002t0004g0054 a0002c0002t0004g0064 a0002c0004t0003g0190 a0002c0004t0003g0193	6	104	0.0577	32	c.71- others(47): Show c.71-2556_71-2555insTATATATATATATATATATATATATATATA CA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCA10_chr17_69143007_69233824	69210170	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0004 a0005c0005t0004	a0005c0005t0004g0222 a0005c0005t0004g0222	1	176	0.0057	32	c.100 others(51): Show c.1006+4533_1006+4534insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69210847	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01928.hp1 others(3): Show HG01167.hp2 HG01169.hp2 HG01928.hp1 HG01978.hp2 NA18612.hp2 NA19074.hp1	a0004 a0004	a0004c0004 a0004c0006 a0004c0004 a0004c0006	a0004c0004t0003 a0004c0004t0011 a0004c0006t0003 a0004c0004t0003 a0004c0004t0011 a0004c0006t0003	a0004c0004t0003g0233 a0004c0004t0003g0238 a0004c0004t0003g0239 others(3): Show a0004c0004t0003g0233 a0004c0004t0003g0238 a0004c0004t0003g0239 a0004c0004t0011g0313 a0004c0006t0003g0056 a0004c0006t0003g0155	6	249	0.0241	32	c.100 others(51): Show c.1006+3856_1006+3857insATATATATATATATATATATATATAT ATATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69211292	C C	CATATATA others(25): Show CATATATATACATCATATATATGATATATATAT	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0281 a0001c0001t0002g0281	1	346	0.0029	32	c.100 others(51): Show c.1006+3380_1006+3411dupATATATATATCATATATATGATGTAT ATATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/38			chr17	TogoVar
ABCA12_chr2_214926542_215143626	214989187	C C	CATACATA others(25): Show CATACATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01074.hp1 HG00423.hp1 HG01074.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0046 a0001c0001 a0010c0046	a0001c0001t0002 a0010c0046t0002 a0001c0001t0002 a0010c0046t0002	a0001c0001t0002g0131 a0010c0046t0002g0162 a0001c0001t0002g0131 a0010c0046t0002g0162	2	26	0.0769	32	c.382 others(49): Show c.3829+141_3829+142insATATATATATATATATATATATATATAT GTAT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	26/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	214989187	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02896.hp1 NA18984.hp2 others(1): Show HG02004.hp2 HG02896.hp1 NA18984.hp2 NA19060.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0009 others(1): Show a0001c0002 a0001c0003 a0001c0009 a0002c0057	a0001c0002t0001 a0001c0003t0001 a0001c0009t0001 others(1): Show a0001c0002t0001 a0001c0003t0001 a0001c0009t0001 a0002c0057t0006	a0001c0002t0001g0060 a0001c0003t0001g0173 a0001c0009t0001g0136 others(1): Show a0001c0002t0001g0060 a0001c0003t0001g0173 a0001c0009t0001g0136 a0002c0057t0006g0177	4	28	0.1429	32	c.382 others(49): Show c.3829+141_3829+142insATATATATATATATATATATATATATAT ATAT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	26/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	215134620	G G	GAGAGAGA others(25): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGACAAAC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0004 a0004	a0004c0018 a0004c0018	a0004c0018t0008 a0004c0018t0008	a0004c0018t0008g0196 a0004c0018t0008g0196	1	152	0.0066	32	c.69+ others(47): Show c.69+3519_69+3520insGTTTGTCTCTCTCTCTCTCTCTCTCTCTCT CT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	1/52			chr2	TogoVar
ABCA1_chr9_104776006_104933155	104882028	T T	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0003 a0005c0014t0003	a0005c0014t0003g0228 a0005c0014t0003g0228	1	21	0.0476	32	c.421 others(49): Show c.421+1010_421+1011insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA5_chr17_69239311_69332133	69263697	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02976.hp1 HG06807.hp1 HG00639.hp2 HG02976.hp1 HG06807.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0003 a0004c0005t0016 a0004c0005t0003 a0004c0005t0016	a0004c0005t0003g0199 a0004c0005t0016g0208 a0004c0005t0016g0209 a0004c0005t0003g0199 a0004c0005t0016g0208 a0004c0005t0016g0209	3	19	0.1579	32	c.331 others(51): Show c.3315+1037_3315+1038insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	24/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69273447	C C	CTATTTAT others(25): Show CTATTTATTTATTTATTTATTTATTTATTTATT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03669.hp1 HG03831.hp1 HG02258.hp2 HG03669.hp1 HG03831.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0022 a0002c0001t0004 a0002c0001t0022	a0002c0001t0004g0175 a0002c0001t0004g0177 a0002c0001t0022g0187 a0002c0001t0004g0175 a0002c0001t0004g0177 a0002c0001t0022g0187	3	20	0.1500	32	c.276 others(49): Show c.2764+511_2764+512insAATAAATAAATAAATAAATAAATAAATA AATA	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	20/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69298229	T T	TAGGTAGG others(25): Show TAGGTAGGTAGGTAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18949.hp1 NA18944.hp1 NA18949.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0053 a0001c0006t0007g0109 a0001c0006t0007g0053 a0001c0006t0007g0109	2	199	0.0101	32	c.126 others(49): Show c.1268-871_1268-870insTCCTTCCTTCCTTCCTTCCTACCTACCT ACCT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	9/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69298229	T T	TAGGTAGG others(25): Show TAGGTAGGTAGGTAGGTAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0107 a0001c0006t0007g0107	1	198	0.0051	32	c.126 others(49): Show c.1268-871_1268-870insTCCTTCCTTCCTTCCTACCTACCTACCT ACCT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	9/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69298316	G G	GAGGAAGG others(25): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG03669.hp1 others(1): Show HG01257.hp2 HG01258.hp1 HG03669.hp1 NA19089.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0002c0001 a0001c0002 a0001c0004 a0002c0001	a0001c0002t0001 a0001c0004t0005 a0002c0001t0004 a0001c0002t0001 a0001c0004t0005 a0002c0001t0004	a0001c0002t0001g0142 a0001c0004t0005g0323 a0001c0004t0005g0324 others(1): Show a0001c0002t0001g0142 a0001c0004t0005g0323 a0001c0004t0005g0324 a0002c0001t0004g0177	4	71	0.0563	32	c.126 others(49): Show c.1268-989_1268-958dupTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	9/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69303785	A A	AAAAAATA others(25): Show AAAAAATATATATATACACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01433.hp1 HG01928.hp2 others(7): Show HG01192.hp2 HG01433.hp1 HG01928.hp2 HG01934.hp1 HG02132.hp1 HG02486.hp2 HG02896.hp2 NA18955.hp1 NA19054.hp1 NA19084.hp2	a0003 a0016 a0003 a0016	a0003c0003 a0016c0021 a0003c0003 a0016c0021	a0003c0003t0003 a0016c0021t0002 a0003c0003t0003 a0016c0021t0002	a0003c0003t0003g0006 a0003c0003t0003g0007 a0003c0003t0003g0008 others(7): Show a0003c0003t0003g0006 a0003c0003t0003g0007 a0003c0003t0003g0008 a0003c0003t0003g0010 a0003c0003t0003g0023 a0003c0003t0003g0024 a0003c0003t0003g0026 a0003c0003t0003g0028 a0003c0003t0003g0150 a0016c0021t0002g0161	10	246	0.0407	32	c.931 others(47): Show c.931-880_931-879insATATATATATATATGTGTATATATATATTT TT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	7/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69303791	T T	TATATATA others(25): Show TATATATATACACATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0043 a0003c0003t0003g0043	1	298	0.0034	32	c.930 others(47): Show c.930+877_930+878insGTGTATATATATATATATATGTGTATATAT AT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	7/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69303793	T T	TATATATA others(25): Show TATATATATATATACATACATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0006 a0005c0007t0006	a0005c0007t0006g0339 a0005c0007t0006g0339	1	295	0.0034	32	c.930 others(47): Show c.930+875_930+876insGTATATATATATATGTATGTATATATATAT AT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	7/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69303799	T T	TATATATA others(25): Show TATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0017 a0001c0004t0005g0017	1	344	0.0029	32	c.930 others(47): Show c.930+869_930+870insGTGTGTGTATATATATATATATATATATAT AT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	7/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69303807	T T	TATATATA others(25): Show TATATATATATATACACATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00738.hp1 HG00741.hp1 others(10): Show HG00323.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01516.hp1 HG03139.hp1 HG03195.hp1 HG04204.hp1 NA18948.hp1 NA18959.hp2 NA18967.hp2 NA18999.hp2 NA19076.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0001 a0001c0006t0001 a0001c0006t0018 a0001c0002t0001 a0001c0006t0001 a0001c0006t0018	a0001c0002t0001g0061 a0001c0002t0001g0075 a0001c0002t0001g0078 others(10): Show a0001c0002t0001g0061 a0001c0002t0001g0075 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0094 a0001c0002t0001g0100 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0118 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0006t0001g0110 a0001c0006t0018g0093	13	244	0.0533	32	c.930 others(47): Show c.930+861_930+862insGTGTATATATATATATGTGTATATATATAT AT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	7/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69303845	C C	CATATATA others(25): Show CATATATATATACATATATATATACACATACAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0006 a0005c0007t0006	a0005c0007t0006g0341 a0005c0007t0006g0341	1	203	0.0049	32	c.930 others(47): Show c.930+823_930+824insATGTATGTGTATATATATATGTATATATAT AT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	7/38			chr17	TogoVar
ABCA6_chr17_69073702_69146895	69086486	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0214 a0002c0002t0002g0214	1	44	0.0227	32	c.393 others(49): Show c.3937+131_3937+132insATATATATATATATATATATATATATAT ATAT	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	30/38			chr17	TogoVar
ABCA7_chr19_1035107_1070572	1060207	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0010 a0010	a0010c0008 a0010c0008	a0010c0008t0002 a0010c0008t0002	a0010c0008t0002g0014 a0010c0008t0002g0014	1	22	0.0455	32	c.546 others(51): Show c.5463+1123_5463+1124insATATATATATATATATATATATATTT TTTTTT	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	40/46		INFO_REALIGN_3_PRIME	chr19	TogoVar
ABCA8_chr17_68862289_68960392	68887911	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATCC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0001 a0001c0042t0001	a0001c0042t0001g0129 a0001c0042t0001g0129	1	88	0.0114	32	c.314 others(49): Show c.3145-406_3145-405insGGATATATATATATATATATATATATAT ATAT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	24/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68887911	T T	TATCCATA others(25): Show TATCCATATATATATATATATATATATATATCC	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0074 a0001c0003t0001g0074	1	88	0.0114	32	c.314 others(49): Show c.3145-406_3145-405insGGATATATATATATATATATATATATAT GGAT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	24/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68958437	T T	TATATATA others(25): Show TATATATAATATATATAATATATAATATAATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0160 a0002c0006t0001g0160	1	145	0.0069	32	c.-33 others(43): Show c.-3386_-3385insTAATTATATTATATATTATATATATTATATAT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding		3046		chr17	TogoVar
ABCA8_chr17_68862289_68960392	68958458	A A	AATATAAT others(25): Show AATATAATTATATATATAATATATATAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	272	0.0037	32	c.-34 others(43): Show c.-3407_-3406insATATATTATATATATTATATATATAATTATAT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding		3067		chr17	TogoVar
ABCC1_chr16_15944616_16148053	15944717	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	103	0.0097	32	c.-50 others(43): Show c.-5035_-5034insTGTGTGTGTGTGTATATATATATATATATATA	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding		4898		chr16	TogoVar
ABCC1_chr16_15944616_16148053	15999836	C C	CTCTTTCT others(25): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0002 a0001c0001t0008g0002	1	104	0.0096	32	c.49- others(47): Show c.49-7973_49-7942dupTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TC	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC1_chr16_15944616_16148053	16143530	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG03669.hp1 HG04204.hp2 others(1): Show HG01261.hp2 HG03669.hp1 HG04204.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0007 a0001c0003t0007 a0001c0004t0002 a0001c0001t0007 a0001c0003t0007 a0001c0004t0002	a0001c0001t0007g0079 a0001c0001t0007g0245 a0001c0003t0007g0224 others(1): Show a0001c0001t0007g0079 a0001c0001t0007g0245 a0001c0003t0007g0224 a0001c0004t0002g0146	4	51	0.0784	32	c.22 others(43): Show c.2249_*2250insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding		478		chr16	TogoVar
ABCC2_chr10_99777640_99857594	99778449	C C	CAGAGAGA others(25): Show CAGAGAGAGAGAGAGAGAGAGAGAGAAAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	122	0.0082	32	c.-43 others(43): Show c.-4396_-4395insAGAGAGAGAGAGAGAGAGAGAGAGAAAGAGAG	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding		4190		chr10	TogoVar

Search by Variant

Search

Search Results