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
ANK2_chr4_113044653_113388736	113149874	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	36	0.0278	35	c.85- others(52): Show c.85-24516_85-24515insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	1/45		INFO_REALIGN_3_PRIME	chr4	TogoVar
ANK3_chr10_60021298_60394875	60100234	G G	GTTTTTTT others(28): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0075 a0001c0075	a0001c0075t0002 a0001c0075t0002	a0001c0075t0002g0071 a0001c0075t0002g0071	1	10	0.1000	35	c.332 others(54): Show c.3328+5670_3328+5671insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	28/43			chr10	TogoVar
ANK3_chr10_60021298_60394875	60219274	A A	ACTTCTGT others(28): Show ACTTCTGTCAATCTGTCCATCTGATCCTCCATACTT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0025 a0025	a0025c0063 a0025c0063	a0025c0063t0022 a0025c0063t0022	a0025c0063t0022g0101 a0025c0063t0022g0101	1	190	0.0053	35	c.898 others(52): Show c.898-5799_898-5765dupAAGTATGGAGGATCAGATGGACAGATTG ACAGAAG	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	8/43			chr10	TogoVar
ANK3_chr10_60021298_60394875	60226356	C C	CTATATAT others(28): Show CTATATATACTATGTATATATACTATATATATAGTA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0025 a0025	a0025c0063 a0025c0063	a0025c0063t0022 a0025c0063t0022	a0025c0063t0022g0101 a0025c0063t0022g0101	1	86	0.0116	35	c.897 others(52): Show c.897+8331_897+8332insTACTATATATATAGTATATATACATAGT ATATATA	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	8/43			chr10	TogoVar
ANKDD1A_chr15_64906902_64963691	64950572	A A	ATAATGGG others(28): Show ATAATGGGGCAACCACAGAATGGGGCACTAGGCAGC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	336	0.0030	35	c.148 others(52): Show c.1483+601_1483+635dupTAATGGGGCAACCACAGAATGGGGCACT AGGCAGC	ANKDD1A	ENSG00000166839.18	transcript	ENST00000319580.13	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
ANKDD1A_chr15_64906902_64963691	64953614	C C	CCCTCTTC others(28): Show CCCTCTTCTTCTCCTTCTTAGTTCTTCTTAGTTCTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG03098.hp1 HG00140.hp2 HG00280.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0206 a0001c0001t0001g0233 a0001c0001t0001g0146 a0001c0001t0001g0206 a0001c0001t0001g0233	3	128	0.0234	35	c.148 others(54): Show c.1484-3488_1484-3487insCTCTTCTTCTCCTTCTTAGTTCTTCT TAGTTCTTC	ANKDD1A	ENSG00000166839.18	transcript	ENST00000319580.13	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
ANKDD1A_chr15_64906902_64963691	64953614	C C	CCCTCTTC others(28): Show CCCTCTTCTTCTCCTTCTTCTTAGTTCTTCTTAGTT	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA18948.hp2 HG02080.hp2 NA18948.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0071 a0001c0002t0002g0320 a0001c0002t0001g0071 a0001c0002t0002g0320	2	127	0.0157	35	c.148 others(54): Show c.1484-3488_1484-3487insCTCTTCTTCTCCTTCTTCTTAGTTCT TCTTAGTTC	ANKDD1A	ENSG00000166839.18	transcript	ENST00000319580.13	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
ANKDD1B_chr5_75606453_75676846	75612322	C C	CCCCCGCC others(28): Show CCCCCGCCCTCCGCCCCGCCCCCGCCCTCCGCCCCG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01358.hp2 HG01516.hp2 others(8): Show HG01123.hp2 HG01358.hp2 HG01516.hp2 HG02698.hp2 HG02735.hp1 HG03486.hp2 HG03688.hp1 NA18747.hp1 NA18942.hp2 NA18975.hp2 NA20905.hp2	a0005 a0025 a0005 a0025	a0005c0004 a0025c0023 a0005c0004 a0025c0023	a0005c0004t0003 a0005c0004t0004 a0005c0004t0015 others(1): Show a0005c0004t0003 a0005c0004t0004 a0005c0004t0015 a0025c0023t0007	a0005c0004t0003g0182 a0005c0004t0003g0183 a0005c0004t0003g0185 others(8): Show a0005c0004t0003g0182 a0005c0004t0003g0183 a0005c0004t0003g0185 a0005c0004t0003g0186 a0005c0004t0003g0188 a0005c0004t0003g0190 a0005c0004t0003g0191 a0005c0004t0003g0192 a0005c0004t0004g0184 a0005c0004t0015g0187 a0025c0023t0007g0189	11	344	0.0320	35	c.193 others(50): Show c.193+499_193+500insGCCCTCCGCCCCGCCCCCGCCCTCCGCCCC GCCCC	ANKDD1B	ENSG00000189045.15	transcript	ENST00000601380.4	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKFN1_chr17_56148475_56522016	56401325	A A	AGTATTGT others(28): Show AGTATTGTATTGTATTGTATTGTATTGTATTGTATT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0007 a0001c0004t0005g0007	1	26	0.0385	35	c.910 others(54): Show c.910+26624_910+26658dupATTGTATTGTATTGTATTGTATTGTA TTGTATTGT	ANKFN1	ENSG00000153930.13	transcript	ENST00000682825.1	protein_coding	8/20		INFO_REALIGN_3_PRIME	chr17	TogoVar
ANKHD1_chr5_140396833_140544849	140476593	T T	TTAAGTAC others(28): Show TTAAGTACCATTCTAGAGAAGGAAAAAATAAACATA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	320	0.0031	35	c.178 others(54): Show c.1783-5985_1783-5951dupAAGTACCATTCTAGAGAAGGAAAAAA TAAACATAT	ANKHD1	ENSG00000131503.21	transcript	ENST00000360839.7	protein_coding	10/33		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKIB1_chr7_92240974_92406383	92309938	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0158 a0001c0002t0015g0158	1	296	0.0034	35	c.486 others(52): Show c.486+2282_486+2283insTATATATATATATATATATATATATATA TATATAT	ANKIB1	ENSG00000001629.10	transcript	ENST00000265742.8	protein_coding	3/19			chr7	TogoVar
ANKIB1_chr7_92240974_92406383	92309942	A A	AAAAAAAA others(28): Show AAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA19085.hp2 HG02056.hp2 NA19085.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0257 a0001c0003t0002g0280 a0001c0003t0002g0257 a0001c0003t0002g0280	2	122	0.0164	35	c.486 others(52): Show c.486+2287_486+2288insAAAAAAAAATATATATATATATATATAT ATATATA	ANKIB1	ENSG00000001629.10	transcript	ENST00000265742.8	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
ANKRD10_chr13_110873540_110920069	110892416	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02135.hp2 HG00140.hp1 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0225 a0001c0001t0008g0226 a0001c0001t0001g0225 a0001c0001t0008g0226	2	7	0.2857	35	c.691 others(50): Show c.691+611_691+612insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	ANKRD10	ENSG00000088448.14	transcript	ENST00000267339.6	protein_coding	4/5			chr13	TogoVar
ANKRD11_chr16_89262630_89495561	89381354	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0220 a0002c0002t0001g0220	1	120	0.0083	35	c.-60 others(54): Show c.-60+36929_-60+36930insCTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
ANKRD17_chr4_73068376_73263798	73086919	A A	AAAAAAAT others(28): Show AAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0239 a0001c0003t0003g0239	1	52	0.0192	35	c.696 others(54): Show c.6962-1474_6962-1473insATATATATATATATATATATATATAT ATATTTTTT	ANKRD17	ENSG00000132466.20	transcript	ENST00000358602.9	protein_coding	29/33			chr4	TogoVar
ANKRD17_chr4_73068376_73263798	73212690	T T	TTTGGAGC others(28): Show TTTGGAGCTCGAGGGAACCCCCCCCGAACAAGATCG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0244 a0001c0003t0003g0244	1	290	0.0034	35	c.394 others(54): Show c.394-35158_394-35157insCGATCTTGTTCGGGGGGGGTTCCCTC GAGCTCCAA	ANKRD17	ENSG00000132466.20	transcript	ENST00000358602.9	protein_coding	1/33			chr4	TogoVar
ANKRD29_chr18_23593926_23667911	23653598	T T	TCTCCCCT others(28): Show TCTCCCCTCTCCTTCCCTTCCCTCTTCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0190	1	350	0.0029	35	c.22- others(50): Show c.22-4440_22-4406dupGGGAGGGGAGAAGAGGGAAGGGAAGGAGAG GGGAG	ANKRD29	ENSG00000154065.17	transcript	ENST00000592179.6	protein_coding	1/9			chr18	TogoVar
ANKRD30A_chr10_37120598_37237567	37167287	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0073 a0002c0002t0004g0073	1	130	0.0077	35	c.215 others(52): Show c.2155+592_2155+593insTATATATATATATATATATATATATATA TATATAT	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	19/35			chr10	TogoVar
ANKRD30B_chr18_14743172_14859667	14831181	G G	GAAAAAAA others(28): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0001 a0010c0014t0001	a0010c0014t0001g0263 a0010c0014t0001g0263	1	92	0.0109	35	c.277 others(52): Show c.2775-183_2775-182insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	ANKRD30B	ENSG00000180777.15	transcript	ENST00000690538.1	protein_coding	33/43		INFO_REALIGN_3_PRIME	chr18	TogoVar
ANKRD44_chr2_196981662_197315780	197198799	A A	AAAAATAA others(28): Show AAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0054 a0001c0001t0019g0054	1	91	0.0110	35	c.28- others(52): Show c.28-11694_28-11693insATTTTATTTTATTTTATTTTATTTTATT TTATTTT	ANKRD44	ENSG00000065413.20	transcript	ENST00000282272.15	protein_coding	1/27			chr2	TogoVar
ANKRD55_chr5_56094680_56238330	56135356	T T	TTTCTTTC others(28): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	190	0.0053	35	c.613 others(52): Show c.613-8251_613-8250insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAA	ANKRD55	ENSG00000164512.18	transcript	ENST00000341048.9	protein_coding	7/11			chr5	TogoVar
ANKRD55_chr5_56094680_56238330	56166091	T T	TTTCTTTC others(28): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA18522.hp2 HG03139.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0006 a0001c0001t0002 a0002c0002t0006	a0001c0001t0002g0124 a0002c0002t0006g0123 a0001c0001t0002g0124 a0002c0002t0006g0123	2	298	0.0067	35	c.422 others(52): Show c.422+4568_422+4602dupGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAA	ANKRD55	ENSG00000164512.18	transcript	ENST00000341048.9	protein_coding	5/11			chr5	TogoVar
ANKRD6_chr6_89428152_89638821	89488866	A A	ATCTATTC others(28): Show ATCTATTCTATTCTATTCTATTCTATTCTATTCTAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0006 a0007c0012t0006	a0007c0012t0006g0107 a0007c0012t0006g0107	1	56	0.0179	35	c.-14 others(56): Show c.-144+55516_-144+55550dupTTCTATTCTATTCTATTCTATTCT ATTCTATTCTA	ANKRD6	ENSG00000135299.18	transcript	ENST00000339746.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
ANKS1B_chr12_98738974_99989936	99667353	A A	AAAAAGAA others(28): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02258.hp2 HG02451.hp2 HG01109.hp2 HG02258.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0003 a0001c0002t0019 a0001c0004t0014 a0001c0001t0003 a0001c0002t0019 a0001c0004t0014	a0001c0001t0003g0018 a0001c0002t0019g0037 a0001c0004t0014g0017 a0001c0001t0003g0018 a0001c0002t0019g0037 a0001c0004t0014g0017	3	30	0.1000	35	c.112 others(56): Show c.1129-12144_1129-12143insCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTT	ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	8/26			chr12	TogoVar
ANO1_chr11_70073317_70194530	70095301	A A	AAGGAAGG others(28): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0149 a0001c0001t0001g0150	2	287	0.0070	35	c.441 others(52): Show c.441+7218_441+7219insGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGA	ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO1_chr11_70073317_70194530	70174920	A A	AAAAAGAA others(28): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0209 a0001c0002t0002g0209	1	77	0.0130	35	c.235 others(54): Show c.2350+3908_2350+3909insAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAA	ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding	22/25		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO2_chr12_5557655_5950259	5562500	A A	AAGGAGAG others(28): Show AAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00621.hp1 others(24): Show HG00438.hp1 HG00558.hp1 HG00621.hp1 HG00735.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01099.hp2 HG01168.hp2 HG01169.hp2 HG01258.hp1 HG01358.hp2 HG01433.hp1 HG01952.hp1 HG02080.hp1 HG02273.hp1 HG02273.hp2 HG03017.hp1 HG03139.hp1 HG03491.hp1 HG03688.hp2 HG04228.hp2 NA18998.hp1 NA19084.hp1 NA19091.hp1 NA20300.hp1	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0006 a0008 a0009	a0001c0001 a0001c0002 a0003c0004 others(7): Show a0001c0001 a0001c0002 a0003c0004 a0003c0007 a0003c0011 a0003c0018 a0004c0009 a0006c0013 a0008c0012 a0009c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0003c0004t0001 a0003c0004t0002 a0003c0007t0001 a0003c0011t0001 a0003c0018t0004 a0004c0009t0001 a0006c0013t0001 a0008c0012t0002 a0009c0022t0002	a0001c0001t0001g0018 a0001c0001t0001g0102 a0001c0001t0001g0110 others(24): Show a0001c0001t0001g0018 a0001c0001t0001g0102 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0004g0098 a0001c0002t0001g0013 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0052 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0085 a0001c0002t0001g0095 a0001c0002t0001g0105 a0001c0002t0001g0112 a0003c0004t0001g0030 a0003c0004t0002g0150 a0003c0007t0001g0041 a0003c0011t0001g0031 a0003c0018t0004g0038 a0004c0009t0001g0065 a0006c0013t0001g0094 a0008c0012t0002g0146 a0009c0022t0002g0129	27	41	0.6585	35	c.79 others(44): Show c.798_*799insCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCT	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding		154		chr12	TogoVar
ANO3_chr11_26327130_26668289	26529427	T T	TAATATAT others(28): Show TAATATATATTATATTATTATATAATATATATTATA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG02647.hp1 others(2): Show HG01168.hp1 HG01169.hp1 HG02647.hp1 HG02922.hp1 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0007 a0001c0012 a0001c0003 a0001c0007 a0001c0012	a0001c0003t0002 a0001c0007t0003 a0001c0012t0007 a0001c0003t0002 a0001c0007t0003 a0001c0012t0007	a0001c0003t0002g0036 a0001c0003t0002g0037 a0001c0007t0003g0061 others(2): Show a0001c0003t0002g0036 a0001c0003t0002g0037 a0001c0007t0003g0061 a0001c0007t0003g0128 a0001c0012t0007g0153	5	161	0.0311	35	c.738 others(52): Show c.738-1778_738-1777insAATATATATTATATTATTATATAATATA TATTATA	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	7/26			chr11	TogoVar
ANO9_chr11_412938_447011	424995	G G	GGAGACGG others(28): Show GGAGACGGGACGCGCGGGAGGAAAAGGCGGCGTGGA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0001 a0003c0010t0001	a0003c0010t0001g0092 a0003c0010t0001g0092	1	284	0.0035	35	c.133 others(54): Show c.1334+3058_1334+3092dupTCCACGCCGCCTTTTCCTCCCGCGCG TCCCGTCTC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	15/22			chr11	TogoVar
ANP32E_chr1_150213417_150241112	150221604	G G	GGAAGGAA others(28): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA19011.hp1 NA19080.hp2 NA18943.hp1 NA19011.hp1 NA19080.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0074 a0002c0001t0001g0126 a0002c0001t0001g0136 a0002c0001t0001g0074 a0002c0001t0001g0126 a0002c0001t0001g0136	3	35	0.0857	35	c.737 others(50): Show c.737-844_737-843insTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTC	ANP32E	ENSG00000143401.15	transcript	ENST00000583931.6	protein_coding	6/6			chr1	TogoVar
ANTKMT_chr16_716146_727590	726459	G G	GGTGGGGG others(28): Show GGTGGGGGGGTGGGGCGGGGAGGGACAGGGCTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	390	0.0026	35	c.39 others(46): Show c.3902_*3903insGTGGGGGGGTGGGGCGGGGAGGGACAGGGCTGTG T	ANTKMT	ENSG00000103254.10	transcript	ENST00000569529.6	protein_coding		3870		chr16	TogoVar
ANTXRL_chr10_46281997_46335129	46331856	T T	TAGATGAA others(28): Show TAGATGAATACTTAAGATCAGTTGAGAAATATAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	368	0.0027	35	c.17 others(46): Show c.1772_*1773insAGATGAATACTTAAGATCAGTTGAGAAATATAAG A	ANTXRL	ENSG00000274209.6	transcript	ENST00000620264.5	protein_coding		1728		chr10	TogoVar
ANXA2R_chr5_43034371_43045319	43043994	A A	ATATATAA others(28): Show ATATATAATATATAATATATAAGATATATAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	293	0.0034	35	c.-39 others(46): Show c.-3949_-3948insATATATTATATATCTTATATATTATATATTATAT A	ANXA2R	ENSG00000177721.5	transcript	ENST00000616064.2	protein_coding		3676		chr5	TogoVar
ANXA2_chr15_60342151_60402986	60399021	A A	AGAGAGAG others(28): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	138	0.0072	35	c.-10 others(46): Show c.-1091_-1090insACTCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT C	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding		1036		chr15	TogoVar
AP1S2_chrX_15820806_15859813	15834479	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	254	0.0039	35	c.427 others(52): Show c.427-6280_427-6279insTATATATATATATATATATATATATATA TATATAT	AP1S2	ENSG00000182287.15	transcript	ENST00000672987.1	protein_coding	4/5			chrX	TogoVar
AP2A2_chr11_920870_1017240	996867	G G	GTCCTGAC others(28): Show GTCCTGACTGAGAGCTGTGGTGTGTGGGTCCGTCCA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00738.hp1 others(37): Show HG00280.hp2 HG00323.hp1 HG00738.hp1 HG01069.hp1 HG01109.hp1 HG01109.hp2 HG01192.hp2 HG01243.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG01496.hp1 HG01516.hp1 HG01884.hp2 HG01943.hp1 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02886.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03942.hp2 HG04199.hp2 HG04228.hp2 NA19088.hp2 NA20129.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0008 a0001c0013 a0002c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0014 a0001c0001t0019 a0001c0002t0002 a0001c0002t0004 a0001c0003t0004 a0001c0006t0001 a0001c0006t0018 a0001c0008t0004 a0001c0013t0001 a0002c0007t0004	a0001c0001t0001g0086 a0001c0001t0001g0105 a0001c0001t0001g0123 others(37): Show a0001c0001t0001g0086 a0001c0001t0001g0105 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0003g0130 a0001c0001t0006g0009 a0001c0001t0006g0010 a0001c0001t0007g0040 a0001c0001t0007g0089 a0001c0001t0007g0090 a0001c0001t0007g0091 a0001c0001t0007g0092 a0001c0001t0007g0106 a0001c0001t0014g0126 a0001c0001t0019g0021 a0001c0002t0002g0225 a0001c0002t0002g0232 a0001c0002t0002g0233 a0001c0002t0002g0234 a0001c0002t0002g0256 a0001c0002t0004g0222 a0001c0002t0004g0223 a0001c0002t0004g0226 a0001c0002t0004g0227 a0001c0002t0004g0228 a0001c0002t0004g0229 a0001c0002t0004g0230 a0001c0002t0004g0231 a0001c0002t0004g0235 a0001c0002t0004g0252 a0001c0002t0004g0253 a0001c0002t0004g0254 a0001c0003t0004g0255 a0001c0006t0001g0127 a0001c0006t0018g0100 a0001c0008t0004g0236 a0001c0013t0001g0128 a0002c0007t0004g0224	40	266	0.1504	35	c.195 others(54): Show c.1956+2649_1956+2650insTCCGTCCATCCTGACTGAGAGCTGTG GTGTGTGGG	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	14/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2S1_chr19_46833167_46855846	46833424	G G	GGAGAAGA others(28): Show GGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG03654.hp2 HG04204.hp2 others(2): Show HG02738.hp1 HG03654.hp2 HG04204.hp2 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0081 a0001c0001t0001g0160 others(2): Show a0001c0001t0001g0059 a0001c0001t0001g0081 a0001c0001t0001g0160 a0001c0001t0001g0231 a0001c0001t0001g0241	5	413	0.0121	35	c.50 others(46): Show c.5022_*5023insTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCT C	AP2S1	ENSG00000042753.12	transcript	ENST00000263270.11	protein_coding		4742		chr19	TogoVar
AP2S1_chr19_46833167_46855846	46833427	A A	AAAGAGAA others(28): Show AAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	183	0.0055	35	c.50 others(46): Show c.5019_*5020insCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCT T	AP2S1	ENSG00000042753.12	transcript	ENST00000263270.11	protein_coding		4739		chr19	TogoVar
AP3B1_chr5_77997326_78299698	78193770	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0115 a0001c0001t0003g0115	1	111	0.0090	35	c.787 others(54): Show c.787-12109_787-12108insAAAAAAAAATATATATATATATATAT ATATATATA	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	7/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78193770	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp1 NA18961.hp2 NA18988.hp1 others(1): Show HG01258.hp1 NA18961.hp2 NA18988.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0021 a0001c0001t0002g0023 others(1): Show a0001c0001t0002g0012 a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0123	4	114	0.0351	35	c.787 others(54): Show c.787-12109_787-12108insAAAAAAAAAAATATATATATATATAT ATATATATA	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	7/26			chr5	TogoVar
APBA2_chr15_28880974_29123315	28969181	T T	TTTCTTTC others(28): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0032 a0002c0002t0032	a0002c0002t0032g0082 a0002c0002t0032g0082	1	201	0.0050	35	c.-94 others(54): Show c.-94-26570_-94-26569insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTT	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
APEX2_chrX_54995363_55014057	55001769	T T	TGAAATAT others(28): Show TGAAATATAATTTTTATGGATAGAATTATCCTACTG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02257.hp2 HG02559.hp2 others(15): Show HG02145.hp1 HG02257.hp2 HG02559.hp2 HG02572.hp1 HG02630.hp2 HG02723.hp2 HG02809.hp2 HG02895.hp1 HG02897.hp2 HG02970.hp1 HG02976.hp2 HG03195.hp1 HG03453.hp1 HG03486.hp2 HG03516.hp1 NA19030.hp2 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0017 a0001c0001 a0001c0005 a0001c0017	a0001c0001t0002 a0001c0001t0003 a0001c0005t0008 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0005t0008 a0001c0005t0009 a0001c0017t0003	a0001c0001t0002g0002 a0001c0001t0003g0002 a0001c0001t0003g0003 others(4): Show a0001c0001t0002g0002 a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0005 a0001c0005t0008g0008 a0001c0005t0009g0008 a0001c0017t0003g0002	18	301	0.0598	35	c.241 others(50): Show c.241+143_241+177dupAATATAATTTTTATGGATAGAATTATCCTA CTGGA	APEX2	ENSG00000169188.5	transcript	ENST00000374987.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
APOA4_chr11_116815700_116828304	116818348	T T	TATATATA others(28): Show TATATATATGAATATATATATGAATATATATATGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0018 a0005c0011t0001g0018	1	289	0.0035	35	c.25 others(46): Show c.2518_*2519insTTCATATATATATTCATATATATATTCATATATA T	APOA4	ENSG00000110244.7	transcript	ENST00000357780.5	protein_coding		2351		chr11	TogoVar
APOC1_chr19_44909608_44924346	44912408	A A	ATTTTGAG others(28): Show ATTTTGAGTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	434	0.0023	35	c.-23 others(46): Show c.-2346_-2345insTTTTGAGTTTTTTTTTTTTTTTTTTTTTTTTTTT T	APOC1	ENSG00000130208.10	transcript	ENST00000592535.6	protein_coding		2199		chr19	TogoVar
APOE_chr19_44900796_44914393	44912408	A A	ATTTTGAG others(28): Show ATTTTGAGTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	422	0.0024	35	c.31 others(46): Show c.3158_*3159insTTTTGAGTTTTTTTTTTTTTTTTTTTTTTTTTTT T	APOE	ENSG00000130203.10	transcript	ENST00000252486.9	protein_coding		3016		chr19	TogoVar
APOH_chr17_66207033_66234415	66224671	G G	GGGAAAGG others(28): Show GGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	303	0.0033	35	c.339 others(50): Show c.339-898_339-897insTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCC	APOH	ENSG00000091583.11	transcript	ENST00000205948.11	protein_coding	3/7			chr17	TogoVar
APOL5_chr22_35712872_35734483	35717235	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0072 a0002c0002t0001g0072	1	34	0.0294	35	c.-63 others(44): Show c.-637_-636insAAAAAAAAAAAAAAAAAAAATATATATATATATAT	APOL5	ENSG00000128313.2	transcript	ENST00000249044.2	protein_coding		636		chr22	TogoVar
APOL5_chr22_35712872_35734483	35717235	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00673.hp2 NA19066.hp1 others(1): Show HG00438.hp2 HG00673.hp2 NA19066.hp1 NA19074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	4	37	0.1081	35	c.-63 others(44): Show c.-637_-636insAAAAAAAAAAAAAAAAAATATATATATATATATAT	APOL5	ENSG00000128313.2	transcript	ENST00000249044.2	protein_coding		636		chr22	TogoVar
APOL5_chr22_35712872_35734483	35717235	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 HG04115.hp2 NA18960.hp1 others(4): Show HG02135.hp2 HG04115.hp2 NA18960.hp1 NA18993.hp1 NA18994.hp2 NA18997.hp2 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0001 a0002c0002t0001 a0001c0004t0001 a0002c0002t0001	a0001c0004t0001g0108 a0002c0002t0001g0001 a0002c0002t0001g0006 others(1): Show a0001c0004t0001g0108 a0002c0002t0001g0001 a0002c0002t0001g0006 a0002c0002t0001g0071	7	40	0.1750	35	c.-63 others(44): Show c.-637_-636insAAAAAAAAAAAAAAAATATATATATATATATATAT	APOL5	ENSG00000128313.2	transcript	ENST00000249044.2	protein_coding		636		chr22	TogoVar
APOOL_chrX_84998877_85098315	85038524	G G	GTTTTTTT others(28): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0010 a0001c0001t0047g0010	1	49	0.0204	35	c.16- others(50): Show c.16-7896_16-7895insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chrX	TogoVar

Search by Variant

Search

Search Results