Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

Show

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
LDAH_chr2_20679031_20828101	20716720	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0166 a0001c0001t0005g0166	1	258	0.0039	18	c.704 others(37): Show c.704-15069_704-15068insTATATATATATATATATA	LDAH	ENSG00000118961.15	transcript	ENST00000237822.8	protein_coding	5/6			chr2	TogoVar
LDB2_chr4_16496541_16903645	16522276	T T	TTGTGTGT others(11): Show TTGTGTGTGCGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01496.hp2 HG02129.hp1 others(2): Show HG01258.hp2 HG01496.hp2 HG02129.hp1 HG02698.hp2 NA19056.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0002c0004t0001 a0001c0001t0001 a0001c0001t0003 a0002c0004t0001	a0001c0001t0001g0074 a0001c0001t0001g0117 a0001c0001t0003g0016 others(2): Show a0001c0001t0001g0074 a0001c0001t0001g0117 a0001c0001t0003g0016 a0001c0001t0003g0018 a0002c0004t0001g0108	5	162	0.0309	18	c.616 others(37): Show c.616-10173_616-10172insCACACACACGCACACACA	LDB2	ENSG00000169744.13	transcript	ENST00000304523.10	protein_coding	5/7			chr4	TogoVar
LDB2_chr4_16496541_16903645	16592505	T T	TATATATA others(11): Show TATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	162	0.0062	18	c.408 others(35): Show c.408+3197_408+3198insGTGTATATATATATATAT	LDB2	ENSG00000169744.13	transcript	ENST00000304523.10	protein_coding	3/7			chr4	TogoVar
LDB2_chr4_16496541_16903645	16697266	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00609.hp2 HG02083.hp1 others(4): Show HG00140.hp1 HG00609.hp2 HG02083.hp1 HG03139.hp2 HG03453.hp2 HG04115.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0098 others(4): Show a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0098 a0001c0001t0001g0124 a0001c0001t0001g0130 a0001c0001t0001g0158 a0001c0001t0002g0043	7	162	0.0432	18	c.235 others(37): Show c.235+61874_235+61891dupGTGTGTGTGTGTGTGTGT	LDB2	ENSG00000169744.13	transcript	ENST00000304523.10	protein_coding	2/7			chr4	TogoVar
LDB2_chr4_16496541_16903645	16763439	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG03831.hp2 HG00099.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0105 a0001c0001t0001g0041 a0001c0001t0001g0105	2	162	0.0124	18	c.133 others(35): Show c.133-4197_133-4180dupGTGTGTGTGTGTGTGTGT	LDB2	ENSG00000169744.13	transcript	ENST00000304523.10	protein_coding	1/7			chr4	TogoVar
LDB2_chr4_16496541_16903645	16850947	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01891.hp2 HG00741.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0115 a0001c0001t0001g0071 a0001c0001t0001g0115	2	162	0.0124	18	c.132 others(37): Show c.132+47389_132+47406dupACACACACACACACACAC	LDB2	ENSG00000169744.13	transcript	ENST00000304523.10	protein_coding	1/7			chr4	TogoVar
LDB2_chr4_16496541_16903645	16898837	G G	GGAGAGAG others(11): Show GGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0039 a0001c0001t0003g0039	1	162	0.0062	18	c.-35 others(27): Show c.-353_-352insTCTCTCTCTCTCTCTCTC	LDB2	ENSG00000169744.13	transcript	ENST00000304523.10	protein_coding		193		chr4	TogoVar
LDHAL6A_chr11_18450856_18484601	18464977	G G	GTTTTTTG others(11): Show GTTTTTTGTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0335 a0001c0001t0004g0335	1	420	0.0024	18	c.245 others(33): Show c.245-654_245-653insGTTTTTTTTTTTTTTTTT	LDHAL6A	ENSG00000166800.11	transcript	ENST00000280706.3	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
LDHAL6A_chr11_18450856_18484601	18467900	T T	TATATATA others(11): Show TATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0311 a0001c0001t0070g0311	1	420	0.0024	18	c.418 others(35): Show c.418+2101_418+2102insCACACACATATATATATA	LDHAL6A	ENSG00000166800.11	transcript	ENST00000280706.3	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
LDHA_chr11_18389563_18413425	18401955	C C	CTCTCTCT others(11): Show CTCTCTCTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02976.hp2 HG03130.hp1 HG02630.hp1 HG02976.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0173 a0001c0001t0001g0041 a0001c0001t0001g0173	3	390	0.0077	18	c.419 others(33): Show c.419-884_419-883insCTCTCTTTTTTTTTTTTT	LDHA	ENSG00000134333.15	transcript	ENST00000422447.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
LDHA_chr11_18389563_18413425	18401955	C C	CTCTCTTT others(11): Show CTCTCTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00673.hp2 HG00741.hp2 others(27): Show HG00558.hp1 HG00673.hp2 HG00741.hp2 HG01074.hp1 HG01168.hp2 HG01516.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02293.hp1 HG02300.hp2 HG03017.hp2 HG03688.hp1 HG04115.hp2 NA18946.hp2 NA18951.hp2 NA18955.hp1 NA18964.hp2 NA18980.hp1 NA18991.hp1 NA18994.hp1 NA19000.hp1 NA19000.hp2 NA19074.hp2 NA19086.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0020 a0001c0001t0001g0024 others(12): Show a0001c0001t0001g0007 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0179 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0231	30	390	0.0769	18	c.419 others(33): Show c.419-884_419-883insCTCTTTTTTTTTTTTTTT	LDHA	ENSG00000134333.15	transcript	ENST00000422447.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
LDHA_chr11_18389563_18413425	18401955	C C	CTCTTTTT others(11): Show CTCTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA19074.hp1 HG02559.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0182 a0001c0001t0001g0161 a0001c0001t0001g0182	2	390	0.0051	18	c.419 others(33): Show c.419-884_419-883insCTTTTTTTTTTTTTTTTT	LDHA	ENSG00000134333.15	transcript	ENST00000422447.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
LDHC_chr11_18407318_18457063	18444604	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	348	0.0029	18	c.711 others(35): Show c.711-1578_711-1561dupATATATATATATATATAT	LDHC	ENSG00000166796.12	transcript	ENST00000541669.6	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
LDLRAD3_chr11_35939062_36237136	35991867	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03017.hp1 HG02486.hp2 HG03017.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0004 a0001c0001t0001 a0002c0003t0004	a0001c0001t0001g0154 a0002c0003t0004g0234 a0001c0001t0001g0154 a0002c0003t0004g0234	2	236	0.0085	18	c.47- others(35): Show c.47-44216_47-44199dupGTGTGTGTGTGTGTGTGT	LDLRAD3	ENSG00000179241.13	transcript	ENST00000315571.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr11	TogoVar
LDLRAD3_chr11_35939062_36237136	36105238	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGAGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02027.hp2 HG03516.hp1 others(5): Show HG01884.hp1 HG02027.hp2 HG03516.hp1 NA18945.hp1 NA18949.hp1 NA18952.hp2 NA18957.hp2 NA19012.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0002t0002 a0001c0002t0007 a0002c0003t0001 a0002c0006t0001	a0001c0001t0001g0073 a0001c0001t0001g0161 a0001c0001t0002g0107 others(5): Show a0001c0001t0001g0073 a0001c0001t0001g0161 a0001c0001t0002g0107 a0001c0001t0010g0108 a0001c0002t0002g0026 a0001c0002t0007g0084 a0002c0003t0001g0228 a0002c0006t0001g0227	8	236	0.0339	18	c.454 others(35): Show c.454+6778_454+6779insTGTGTGTGTGTGTGAGAG	LDLRAD3	ENSG00000179241.13	transcript	ENST00000315571.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr11	TogoVar
LDLRAD3_chr11_35939062_36237136	36105238	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA19002.hp2 HG02056.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0146 a0001c0001t0001g0140 a0001c0001t0001g0146	2	236	0.0085	18	c.454 others(35): Show c.454+6778_454+6779insTGTGTGTGTGTGTGTGAG	LDLRAD3	ENSG00000179241.13	transcript	ENST00000315571.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr11	TogoVar
LDLRAD3_chr11_35939062_36237136	36140992	T T	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02559.hp1 NA19088.hp1 HG01891.hp2 HG02559.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0025 a0001c0001t0001 a0001c0001t0015 a0001c0001t0025	a0001c0001t0001g0079 a0001c0001t0015g0204 a0001c0001t0025g0201 a0001c0001t0001g0079 a0001c0001t0015g0204 a0001c0001t0025g0201	3	236	0.0127	18	c.454 others(37): Show c.454+42558_454+42575dupTCTCTCTCTCTCTCTCTC	LDLRAD3	ENSG00000179241.13	transcript	ENST00000315571.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr11	TogoVar
LDLRAD3_chr11_35939062_36237136	36191576	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTCTCTCTA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0225 a0002c0003t0002g0225	1	236	0.0042	18	c.455 others(37): Show c.455-35508_455-35507insCTCTCTCTCTCTCTCTAT	LDLRAD3	ENSG00000179241.13	transcript	ENST00000315571.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr11	TogoVar
LDLRAD4_chr18_13213760_13657751	13226180	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02027.hp1 HG02257.hp2 others(2): Show HG00408.hp1 HG02027.hp1 HG02257.hp2 HG03669.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0054 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0054 a0001c0001t0063	a0001c0001t0001g0022 a0001c0001t0001g0134 a0001c0001t0009g0155 others(2): Show a0001c0001t0001g0022 a0001c0001t0001g0134 a0001c0001t0009g0155 a0001c0001t0054g0076 a0001c0001t0063g0043	5	178	0.0281	18	c.-46 others(37): Show c.-467+7196_-467+7213dupTTTTTTTTTTTTTTTTTT	LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
LDLRAD4_chr18_13213760_13657751	13395567	A A	AGCGGGAG others(11): Show AGCGGGAGCTGGCGTGGGG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02080.hp2 NA19004.hp1 HG00597.hp1 HG02080.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0119 a0001c0001t0002g0117 a0001c0001t0003g0066 a0001c0001t0001g0119 a0001c0001t0002g0117 a0001c0001t0003g0066	3	178	0.0169	18	c.40+ others(33): Show c.40+7813_40+7830dupCTGGCGTGGGGGCGGGAG	LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
LDLRAD4_chr18_13213760_13657751	13473678	T T	TATATATA others(11): Show TATATATATATATATAAAA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	178	0.0056	18	c.181 others(37): Show c.181+35295_181+35296insTATATATATATATAAAAA	LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
LDLRAD4_chr18_13213760_13657751	13473678	T T	TATATATA others(11): Show TATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	178	0.0056	18	c.181 others(37): Show c.181+35295_181+35296insTATATATATATATATAAA	LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
LDLRAD4_chr18_13213760_13657751	13586406	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00639.hp1 HG00642.hp1 others(14): Show HG00597.hp1 HG00639.hp1 HG00642.hp1 HG01255.hp1 HG01891.hp1 HG02027.hp2 HG02074.hp1 HG02145.hp2 HG02258.hp1 HG02486.hp1 HG02486.hp2 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02895.hp2 HG03486.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 a0001c0001t0019 a0001c0001t0033 a0001c0001t0038 a0001c0001t0056 a0001c0001t0061 a0001c0001t0062	a0001c0001t0001g0042 a0001c0001t0001g0152 a0001c0001t0002g0009 others(14): Show a0001c0001t0001g0042 a0001c0001t0001g0152 a0001c0001t0002g0009 a0001c0001t0002g0056 a0001c0001t0002g0090 a0001c0001t0002g0101 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0158 a0001c0001t0003g0066 a0001c0001t0018g0081 a0001c0001t0019g0048 a0001c0001t0033g0082 a0001c0001t0038g0012 a0001c0001t0056g0059 a0001c0001t0061g0091 a0001c0001t0062g0033	17	178	0.0955	18	c.182 others(37): Show c.182-34696_182-34695insAAAAAAAAAAAAAAAAAA	LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
LDLRAD4_chr18_13213760_13657751	13650246	T T	TTGCTGCT others(11): Show TTGCTGCTGCTGCTGCTGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0168 a0001c0001t0050g0168	1	178	0.0056	18	c.45 others(29): Show c.4597_*4614dupGCTGCTGCTGCTGCTGCT	LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	7/7	4615	INFO_REALIGN_3_PRIME	chr18	TogoVar
LDLR_chr19_11084463_11138820	11092202	T T	TTTATTAT others(11): Show TTTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01884.hp1 HG01975.hp2 others(10): Show HG00642.hp1 HG01884.hp1 HG01975.hp2 HG02622.hp1 HG02809.hp1 HG02922.hp1 HG02922.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp2 HG03834.hp2 NA18522.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0013 a0002c0005	a0001c0001t0035 a0001c0002t0001 a0001c0003t0003 others(8): Show a0001c0001t0035 a0001c0002t0001 a0001c0003t0003 a0001c0003t0025 a0001c0003t0055 a0001c0006t0006 a0001c0007t0020 a0001c0008t0008 a0001c0009t0017 a0001c0013t0004 a0002c0005t0002	a0001c0001t0035g0020 a0001c0002t0001g0018 a0001c0003t0003g0021 others(9): Show a0001c0001t0035g0020 a0001c0002t0001g0018 a0001c0003t0003g0021 a0001c0003t0025g0022 a0001c0003t0055g0320 a0001c0006t0006g0037 a0001c0007t0020g0321 a0001c0008t0008g0019 a0001c0009t0017g0004 a0001c0013t0004g0338 a0002c0005t0002g0057 a0002c0005t0002g0317	13	358	0.0363	18	c.67+ others(33): Show c.67+2602_67+2619dupATTATTATTATTATTATT	LDLR	ENSG00000130164.15	transcript	ENST00000558518.6	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr19	TogoVar
LDLR_chr19_11084463_11138820	11122395	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0024 a0001c0018t0024	a0001c0018t0024g0322 a0001c0018t0024g0322	1	358	0.0028	18	c.214 others(35): Show c.2141-774_2141-757dupTTTTTTTTTTTTTTTTTT	LDLR	ENSG00000130164.15	transcript	ENST00000558518.6	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr19	TogoVar
LEF1_chr4_108042548_108173932	108086829	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00642.hp1 HG01081.hp2 others(12): Show HG00609.hp1 HG00642.hp1 HG01081.hp2 HG01106.hp1 HG01243.hp2 HG01358.hp1 HG01496.hp2 HG02015.hp2 HG02129.hp2 HG02280.hp1 HG02735.hp1 HG03239.hp1 HG03453.hp2 NA18971.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0018 a0001c0001t0026	a0001c0001t0001g0260 a0001c0001t0002g0018 a0001c0001t0002g0032 others(12): Show a0001c0001t0001g0260 a0001c0001t0002g0018 a0001c0001t0002g0032 a0001c0001t0002g0057 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0089 a0001c0001t0013g0110 a0001c0001t0018g0019 a0001c0001t0026g0264	15	264	0.0568	18	c.547 others(35): Show c.547+2278_547+2295dupGTGTGTGTGTGTGTGTGT	LEF1	ENSG00000138795.10	transcript	ENST00000265165.6	protein_coding	4/11			chr4	TogoVar
LEF1_chr4_108042548_108173932	108115846	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03516.hp2 HG02965.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0238 a0001c0001t0003g0240 a0001c0001t0003g0238 a0001c0001t0003g0240	2	264	0.0076	18	c.415 others(37): Show c.415-26607_415-26590dupGTGTGTGTGTGTGTGTGT	LEF1	ENSG00000138795.10	transcript	ENST00000265165.6	protein_coding	3/11			chr4	TogoVar
LEF1_chr4_108042548_108173932	108132659	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02083.hp2 HG02135.hp2 others(14): Show HG00099.hp2 HG02083.hp2 HG02135.hp2 HG02300.hp1 HG02976.hp2 HG03017.hp2 HG04115.hp2 NA18951.hp2 NA18968.hp1 NA18983.hp1 NA18994.hp1 NA19005.hp1 NA19066.hp1 NA19070.hp1 NA19090.hp2 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0023	a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0142 others(14): Show a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0165 a0001c0001t0001g0194 a0001c0001t0002g0021 a0001c0001t0005g0135 a0001c0001t0005g0163 a0001c0001t0023g0166	17	264	0.0644	18	c.414 others(37): Show c.414+30891_414+30908dupAAAAAAAAAAAAAAAAAA	LEF1	ENSG00000138795.10	transcript	ENST00000265165.6	protein_coding	3/11			chr4	TogoVar
LEF1_chr4_108042548_108173932	108157175	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	264	0.0038	18	c.414 others(35): Show c.414+6392_414+6393insGTGTGTGTGTGTGTGTGT	LEF1	ENSG00000138795.10	transcript	ENST00000265165.6	protein_coding	3/11			chr4	TogoVar
LEKR1_chr3_156821353_157051129	156899519	C C	CATACATA others(11): Show CATACATATATACACATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0076 a0001c0004t0001g0076	1	244	0.0041	18	c.264 others(37): Show c.264-21028_264-21011dupTACACATATATACATATA	LEKR1	ENSG00000197980.14	transcript	ENST00000356539.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
LEKR1_chr3_156821353_157051129	156936426	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0020 a0001c0004t0001g0020	1	244	0.0041	18	c.560 others(35): Show c.560-6080_560-6063dupACACACACACACACACAC	LEKR1	ENSG00000197980.14	transcript	ENST00000356539.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
LEKR1_chr3_156821353_157051129	157017948	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0016 a0001c0004t0001g0016	1	244	0.0041	18	c.120 others(37): Show c.1203+6449_1203+6466dupAAAAAAAAAAAAAAAAAA	LEKR1	ENSG00000197980.14	transcript	ENST00000356539.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
LEMD2_chr6_33766213_33794130	33766986	T T	TCACACAC others(11): Show TCACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0010 a0001c0001t0004g0010	1	400	0.0025	18	c.56 others(29): Show c.5641_*5642insTGTGTGTGTGTGTGTGTG	LEMD2	ENSG00000161904.13	transcript	ENST00000293760.10	protein_coding		4226		chr6	TogoVar
LEMD3_chr12_65164583_65253355	65193732	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	398	0.0025	18	c.152 others(39): Show c.1523-17168_1523-17151dupGTGTGTGTGTGTGTGTGT	LEMD3	ENSG00000174106.3	transcript	ENST00000308330.3	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
LENG8_chr19_54444199_54467016	54453438	A A	AGGGGTGA others(11): Show AGGGGTGAGGGATTGGTAG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03540.hp1 HG06807.hp1 HG03195.hp2 HG03540.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	3	431	0.0070	18	c.316 others(32): Show c.316-107_316-90dupGGGGTGAGGGATTGGTAG	LENG8	ENSG00000167615.18	transcript	ENST00000326764.10	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr19	TogoVar
LEO1_chr15_51933025_51976778	51934711	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01943.hp1 HG01981.hp2 others(9): Show HG01069.hp2 HG01943.hp1 HG01981.hp2 HG02451.hp2 HG02895.hp2 HG02897.hp2 HG03516.hp2 HG04115.hp2 NA18972.hp1 NA18983.hp2 NA19054.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0150 others(8): Show a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0150 a0001c0001t0001g0212 a0001c0001t0001g0247 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0269 a0001c0001t0001g0274 a0001c0001t0001g0285 a0001c0001t0001g0286	12	388	0.0309	18	c.34 others(29): Show c.3427_*3444dupTTTTTTTTTTTTTTTTTT	LEO1	ENSG00000166477.13	transcript	ENST00000299601.10	protein_coding		3313		chr15	TogoVar
LEO1_chr15_51933025_51976778	51961352	A A	AGGTGGTG others(11): Show AGGTGGTGGTGGTGGTGGT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0296 a0001c0002t0001g0296	1	388	0.0026	18	c.920 others(33): Show c.920-637_920-620dupACCACCACCACCACCACC	LEO1	ENSG00000166477.13	transcript	ENST00000299601.10	protein_coding	3/11			chr15	TogoVar
LEPROTL1_chr8_30090408_30113524	30100849	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00597.hp2 NA18956.hp2 others(10): Show HG00280.hp2 HG00597.hp2 NA18956.hp2 NA18959.hp1 NA18961.hp1 NA18964.hp1 NA18977.hp1 NA18980.hp1 NA18982.hp1 NA18993.hp1 NA19006.hp1 NA19058.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0019 a0001c0001t0002 a0001c0001t0019	a0001c0001t0002g0014 a0001c0001t0002g0029 a0001c0001t0002g0064 others(7): Show a0001c0001t0002g0014 a0001c0001t0002g0029 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0074 a0001c0001t0019g0014	13	416	0.0313	18	c.17- others(33): Show c.17-1047_17-1030dupGTGTGTGTGTGTGTGTGT	LEPROTL1	ENSG00000104660.19	transcript	ENST00000321250.13	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
LEPROT_chr1_65415668_65441007	65417065	C C	CATATATA others(11): Show CATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0056 a0001c0001t0012g0056	1	402	0.0025	18	c.-36 others(29): Show c.-3660_-3659insATATATATATATATATAT	LEPROT	ENSG00000213625.9	transcript	ENST00000371065.9	protein_coding		3602		chr1	TogoVar
LEPR_chr1_65415668_65646559	65417065	C C	CATATATA others(11): Show CATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0010 a0010	a0010c0021 a0010c0021	a0010c0021t0010 a0010c0021t0010	a0010c0021t0010g0215 a0010c0021t0010g0215	1	216	0.0046	18	c.-37 others(29): Show c.-3772_-3771insATATATATATATATATAT	LEPR	ENSG00000116678.20	transcript	ENST00000349533.11	protein_coding		3602		chr1	TogoVar
LEPR_chr1_65415668_65646559	65472411	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00738.hp2 HG02040.hp1 others(13): Show HG00609.hp2 HG00738.hp2 HG02040.hp1 HG02145.hp2 HG02451.hp1 HG02630.hp2 HG02723.hp1 HG03041.hp1 HG03831.hp1 HG04184.hp2 HG06807.hp1 NA18612.hp2 NA18942.hp1 NA20129.hp1 NA20805.hp2 NA20905.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0008 a0003c0004 others(3): Show a0001c0001 a0001c0008 a0003c0004 a0003c0006 a0005c0007 a0005c0020	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0043 a0001c0008t0006 a0001c0008t0008 a0003c0004t0006 a0003c0006t0001 a0003c0006t0005 a0005c0007t0002 a0005c0007t0003 a0005c0020t0024	a0001c0001t0002g0128 a0001c0001t0002g0161 a0001c0001t0002g0163 others(13): Show a0001c0001t0002g0128 a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0003g0014 a0001c0001t0003g0100 a0001c0001t0009g0089 a0001c0001t0043g0174 a0001c0008t0006g0062 a0001c0008t0008g0185 a0003c0004t0006g0028 a0003c0006t0001g0084 a0003c0006t0005g0109 a0005c0007t0002g0186 a0005c0007t0003g0098 a0005c0007t0003g0099 a0005c0020t0024g0068	16	216	0.0741	18	c.-21 others(37): Show c.-21+47050_-21+47067dupACACACACACACACACAC	LEPR	ENSG00000116678.20	transcript	ENST00000349533.11	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
LEPR_chr1_65415668_65646559	65472615	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02257.hp2 HG02717.hp1 others(6): Show HG00738.hp2 HG02257.hp2 HG02717.hp1 HG02922.hp2 HG02976.hp2 HG03041.hp2 HG03139.hp2 HG06807.hp1 NA19030.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0006	a0001c0008 a0003c0004 a0005c0007 others(2): Show a0001c0008 a0003c0004 a0005c0007 a0005c0012 a0006c0013	a0001c0008t0008 a0003c0004t0006 a0005c0007t0002 others(3): Show a0001c0008t0008 a0003c0004t0006 a0005c0007t0002 a0005c0007t0003 a0005c0012t0002 a0006c0013t0022	a0001c0008t0008g0185 a0003c0004t0006g0028 a0005c0007t0002g0182 others(6): Show a0001c0008t0008g0185 a0003c0004t0006g0028 a0005c0007t0002g0182 a0005c0007t0003g0063 a0005c0007t0003g0101 a0005c0012t0002g0171 a0005c0012t0002g0172 a0005c0012t0002g0177 a0006c0013t0022g0096	9	216	0.0417	18	c.-21 others(37): Show c.-21+47253_-21+47270dupCACACACACACACACACA	LEPR	ENSG00000116678.20	transcript	ENST00000349533.11	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
LEPR_chr1_65415668_65646559	65488210	T T	TTCTTTCT others(11): Show TTCTTTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0013 a0001c0001t0011g0013	1	216	0.0046	18	c.-21 others(37): Show c.-21+62835_-21+62836insTTCTCTCTCTCTCTCTCT	LEPR	ENSG00000116678.20	transcript	ENST00000349533.11	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
LEPR_chr1_65415668_65646559	65488210	T T	TTCTTTCT others(11): Show TTCTTTCTTTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0102 a0001c0001t0003g0102	1	216	0.0046	18	c.-21 others(37): Show c.-21+62835_-21+62836insTTCTTTCTCTCTCTCTCT	LEPR	ENSG00000116678.20	transcript	ENST00000349533.11	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
LEPR_chr1_65415668_65646559	65488212	C C	CTTTCTTT others(11): Show CTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	216	0.0046	18	c.-21 others(37): Show c.-21+62835_-21+62836insTTCTTTCTTTCTTTCTTT	LEPR	ENSG00000116678.20	transcript	ENST00000349533.11	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
LEPR_chr1_65415668_65646559	65488226	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA18985.hp2 HG02280.hp1 NA18985.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0003 a0003c0005t0027 a0001c0001t0003 a0003c0005t0027	a0001c0001t0003g0059 a0003c0005t0027g0008 a0001c0001t0003g0059 a0003c0005t0027g0008	2	216	0.0093	18	c.-21 others(37): Show c.-21+62851_-21+62852insCTCTCTCTCTTTCTTTCT	LEPR	ENSG00000116678.20	transcript	ENST00000349533.11	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
LEPR_chr1_65415668_65646559	65488226	C C	CTCTCTTT others(11): Show CTCTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0008 a0003c0004t0008	a0003c0004t0008g0125 a0003c0004t0008g0125	1	216	0.0046	18	c.-21 others(37): Show c.-21+62851_-21+62852insCTTTCTTTCTTTCTTTCT	LEPR	ENSG00000116678.20	transcript	ENST00000349533.11	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
LEPR_chr1_65415668_65646559	65598095	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03225.hp1 HG03209.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0151 a0002c0002t0005g0207 a0002c0002t0005g0151 a0002c0002t0005g0207	2	216	0.0093	18	c.850 others(33): Show c.850-562_850-545dupTTTTTTTTTTTTTTTTTT	LEPR	ENSG00000116678.20	transcript	ENST00000349533.11	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
LEP_chr7_128236278_128262629	128261504	T T	TACACACA others(11): Show TACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG02145.hp1 HG03516.hp1 HG00642.hp2 HG02145.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0116 a0001c0001t0003g0119 a0001c0001t0003g0010 a0001c0001t0003g0116 a0001c0001t0003g0119	3	395	0.0076	18	c.67 others(29): Show c.6741_*6742insACACACACACACACACAC	LEP	ENSG00000174697.5	transcript	ENST00000308868.5	protein_coding		3876		chr7	TogoVar

Search by Variant

Search

Search Results