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
JAK1_chr1_64828229_64971549	64863291	T T	TATCCAGG others(26): Show TATCCAGGATGCAGCATATGACACGGGGCCTAAA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	326	0.0031	33	c.117 others(52): Show c.1176+1495_1176+1496insTTTAGGCCCCGTGTCATATGCTGCAT CCTGGAT	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	8/24			chr1	TogoVar
JAKMIP1_chr4_6021199_6205549	6037148	A A	AGTAGCCC others(26): Show AGTAGCCCTCCATCACTGAGGCAGAGGCTAACCG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02970.hp2 HG03130.hp1 others(1): Show HG02257.hp1 HG02970.hp2 HG03130.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0177 a0001c0001t0001g0205 a0001c0001t0001g0206 others(1): Show a0001c0001t0001g0177 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0003t0001g0056	4	233	0.0172	33	c.217 others(52): Show c.2176-1042_2176-1041insCGGTTAGCCTCTGCCTCAGTGATGGA GGGCTAC	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	18/20			chr4	TogoVar
JAKMIP1_chr4_6021199_6205549	6037420	G G	GCCCTCCA others(26): Show GCCCTCCAACACCGAGGCAGAGGCTAACCGGTAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01192.hp1 HG02300.hp2 HG00323.hp1 HG01192.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0098 a0001c0001t0001g0156 a0001c0001t0001g0032 a0001c0001t0001g0098 a0001c0001t0001g0156	3	233	0.0129	33	c.217 others(52): Show c.2176-1314_2176-1313insATACCGGTTAGCCTCTGCCTCGGTGT TGGAGGG	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	18/20			chr4	TogoVar
JAKMIP1_chr4_6021199_6205549	6037441	G G	GGCTAACC others(26): Show GGCTAACCGGTATCCCTCCATCACTGAGTCAGAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02970.hp2 HG03130.hp1 others(1): Show HG02257.hp1 HG02970.hp2 HG03130.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0177 a0001c0001t0001g0205 a0001c0001t0001g0206 others(1): Show a0001c0001t0001g0177 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0003t0001g0056	4	233	0.0172	33	c.217 others(52): Show c.2176-1335_2176-1334insTTCTGACTCAGTGATGGAGGGATACC GGTTAGC	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	18/20			chr4	TogoVar
JAKMIP1_chr4_6021199_6205549	6037949	C C	CCCAGTAG others(26): Show CCCAGTAGCCCTCCATCACCGAGGCAGAGGCTAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	233	0.0043	33	c.217 others(52): Show c.2176-1875_2176-1843dupTTAGCCTCTGCCTCGGTGATGGAGGG CTACTGG	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	18/20			chr4	TogoVar
JAKMIP2_chr5_147580438_147787728	147742155	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0075 a0001c0004t0006g0075	1	250	0.0040	33	c.-14 others(54): Show c.-149+40300_-149+40301insAAAAATATATATATATATATATAT ATATATATA	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP3_chr10_132060946_132189858	132097968	T T	TTTCCCTT others(26): Show TTTCCCTTCCCCTTTCCCTTCCCCTTTCCCTTCC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01175.hp2 HG02258.hp1 others(1): Show HG00544.hp2 HG01175.hp2 HG02258.hp1 NA19043.hp1	a0001 a0004 a0001 a0004	a0001c0013 a0001c0017 a0004c0011 a0001c0013 a0001c0017 a0004c0011	a0001c0013t0001 a0001c0017t0003 a0001c0017t0005 others(1): Show a0001c0013t0001 a0001c0017t0003 a0001c0017t0005 a0004c0011t0001	a0001c0013t0001g0129 a0001c0017t0003g0104 a0001c0017t0005g0079 others(1): Show a0001c0013t0001g0129 a0001c0017t0003g0104 a0001c0017t0005g0079 a0004c0011t0001g0134	4	158	0.0253	33	c.-13 others(52): Show c.-137-6704_-137-6703insTTCCCTTCCCCTTTCCCTTCCCCTTT CCCTTCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	1/23			chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132171788	G G	GGGATTAC others(26): Show GGGATTACAGGCAGGCACCACCACACTCAGCTAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0005 a0001c0015t0005	a0001c0015t0005g0140 a0001c0015t0005g0140	1	158	0.0063	33	c.11 others(54): Show c.1103+2756_*1103+2788dupGGATTACAGGCAGGCACCACCACA CTCAGCTAA	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAM2_chr21_25634258_25722562	25660782	A A	ATATATAT others(26): Show ATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	328	0.0031	33	c.67+ others(50): Show c.67+20895_67+20896insATATATATATATATATATTTTTTTTTTT TTTTT	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
JAM2_chr21_25634258_25722562	25660782	A A	ATATATAT others(26): Show ATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 NA18974.hp2 NA18977.hp1 HG00639.hp2 NA18974.hp2 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0262 a0001c0001t0002g0265 a0001c0001t0004g0253 a0001c0001t0002g0262 a0001c0001t0002g0265 a0001c0001t0004g0253	3	328	0.0092	33	c.67+ others(50): Show c.67+20895_67+20896insATATATATATATATATTTTTTTTTTTTT TTTTT	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
JAM2_chr21_25634258_25722562	25660782	A A	ATATATAT others(26): Show ATATATATATATATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0313 a0001c0001t0002g0313	1	328	0.0031	33	c.67+ others(50): Show c.67+20895_67+20896insATATATATATATTTTTTTTTTTTTTTTT TTTTT	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
JARID2_chr6_15241069_15527042	15415686	G G	GCGGGGGG others(26): Show GCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03516.hp1 HG03540.hp2 others(2): Show HG02965.hp2 HG03516.hp1 HG03540.hp2 HG06807.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0006 a0001c0002t0030 a0001c0002t0005 a0001c0002t0006 a0001c0002t0030	a0001c0002t0005g0130 a0001c0002t0006g0073 a0001c0002t0006g0074 others(2): Show a0001c0002t0005g0130 a0001c0002t0006g0073 a0001c0002t0006g0074 a0001c0002t0006g0075 a0001c0002t0030g0275	5	284	0.0176	33	c.323 others(50): Show c.323+5339_323+5340insCACCTCCCTCCCGGACGGGGGGCTGACC CCCCC	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
JKAMP_chr14_59479517_59510410	59502751	T T	TTTTTGTT others(26): Show TTTTTGTTTTGTTTTGTTTTGTTTTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01433.hp1 HG02055.hp1 others(3): Show HG01099.hp1 HG01433.hp1 HG02055.hp1 HG02559.hp2 HG03130.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0072 a0001c0001t0002g0073 others(1): Show a0001c0001t0002g0021 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0076	6	358	0.0168	33	c.718 others(50): Show c.718-1099_718-1098insGTTTTGTTTTGTTTTGTTTTTTTGTTTT GTTTT	JKAMP	ENSG00000050130.18	transcript	ENST00000616435.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
JKAMP_chr14_59479517_59510410	59508430	A A	ACACACAC others(26): Show ACACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	358	0.0028	33	c.43 others(44): Show c.4358_*4359insCACACACACACACACACACACACACACACACAC	JKAMP	ENSG00000050130.18	transcript	ENST00000616435.5	protein_coding		3021		chr14	TogoVar
JMJD7_chr15_41823092_41842581	41833414	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0127 a0001c0001t0002g0127	1	386	0.0026	33	c.65- others(48): Show c.65-1325_65-1324insATATATATATATATATATATATATATATTT TTT	JMJD7	ENSG00000243789.11	transcript	ENST00000397299.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
JMJD7_chr15_41823092_41842581	41833414	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02273.hp1 HG01496.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0167 a0001c0001t0002g0129 a0001c0001t0002g0167	2	386	0.0052	33	c.65- others(48): Show c.65-1325_65-1324insATATATATATATATATATATATATATTTTT TTT	JMJD7	ENSG00000243789.11	transcript	ENST00000397299.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
JMJD7_chr15_41823092_41842581	41833414	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp2 NA18954.hp2 NA19056.hp1 HG01358.hp2 NA18954.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0106 a0001c0001t0002g0037 a0001c0001t0002g0106	3	386	0.0078	33	c.65- others(48): Show c.65-1325_65-1324insATATATATATATATATATATATATTTTTTT TTT	JMJD7	ENSG00000243789.11	transcript	ENST00000397299.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
JMJD7_chr15_41823092_41842581	41833414	A A	ATATATAT others(26): Show ATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG04204.hp2 NA19058.hp2 HG01258.hp1 HG04204.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	3	386	0.0078	33	c.65- others(48): Show c.65-1325_65-1324insATATATATATATATATATATATTTTTTTTT TTT	JMJD7	ENSG00000243789.11	transcript	ENST00000397299.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
JMJD7_chr15_41823092_41842581	41833414	A A	ATATATAT others(26): Show ATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	386	0.0026	33	c.65- others(48): Show c.65-1325_65-1324insATATATATATATATATATATTTTTTTTTTT TTT	JMJD7	ENSG00000243789.11	transcript	ENST00000397299.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
JMJD7_chr15_41823092_41842581	41833414	A A	ATATATAT others(26): Show ATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0162 a0001c0001t0002g0162	1	386	0.0026	33	c.65- others(48): Show c.65-1325_65-1324insATATATATATATATATTTTTTTTTTTTTTT TTT	JMJD7	ENSG00000243789.11	transcript	ENST00000397299.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
KALRN_chr3_124028369_124731325	124265298	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA18906.hp1 HG02723.hp2 NA18906.hp1	a0001 a0001	a0001c0059 a0001c0063 a0001c0059 a0001c0063	a0001c0059t0014 a0001c0063t0003 a0001c0059t0014 a0001c0063t0003	a0001c0059t0014g0076 a0001c0063t0003g0088 a0001c0059t0014g0076 a0001c0063t0003g0088	2	116	0.0172	33	c.456 others(48): Show c.456+622_456+623insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	4/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KANSL1_chr17_46024916_46198429	46045440	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0314 a0003c0004t0005g0314	1	321	0.0031	33	c.202 others(52): Show c.2020+5092_2020+5093insATATATATATATATATATATATTTTT TTTTTTT	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	7/14			chr17	TogoVar
KANSL1_chr17_46024916_46198429	46096311	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0166 a0001c0001t0002g0166	1	321	0.0031	33	c.129 others(52): Show c.1290-1611_1290-1610insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	2/14			chr17	TogoVar
KANSL3_chr2_96588172_96643312	96615165	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0186 a0001c0001t0002g0186	1	340	0.0029	33	c.664 others(50): Show c.664-1547_664-1546insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	KANSL3	ENSG00000114982.19	transcript	ENST00000431828.6	protein_coding	5/20			chr2	TogoVar
KAT2B_chr3_20035446_20159404	20149495	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 NA19086.hp1 HG01099.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0327 a0001c0001t0002g0228 a0001c0001t0002g0327	2	374	0.0054	33	c.230 others(52): Show c.2305+1033_2305+1034insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT6B_chr10_74821600_75037624	74981343	C C	CTTCCTTC others(26): Show CTTCCTTCCTTCCTTCCTTCCTTTCTTCCTTTCT	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA18522.hp1 HG03516.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0091 a0001c0001t0001g0092	2	236	0.0085	33	c.223 others(50): Show c.2232-438_2232-437insCCTTCCTTCCTTCCTTTCTTCCTTTCTT TCCTT	KAT6B	ENSG00000156650.14	transcript	ENST00000287239.10	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
KAZN_chr1_14593685_15123043	14883342	G G	GAGAGAGA others(26): Show GAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03654.hp1 HG03017.hp2 HG03654.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0026 a0002c0002t0001g0079 a0001c0001t0002g0026 a0002c0002t0001g0079	2	146	0.0137	33	c.227 others(52): Show c.227-77341_227-77340insGAGAGAGAGAGAGAGAGAGAGAGAAA GAAAGAA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14883343	A A	AGAGGGAG others(26): Show AGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0013 a0007c0015t0013	a0007c0015t0013g0121 a0007c0015t0013g0121	1	146	0.0069	33	c.227 others(52): Show c.227-77341_227-77340insGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGG	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14			chr1	TogoVar
KBTBD11_chr8_1968677_2011936	1990642	C C	CGGGACTT others(26): Show CGGGACTTGGCGCCCTGTCCGGGTAGGTGCTGCG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01192.hp1 HG01258.hp1 others(29): Show HG00733.hp2 HG01192.hp1 HG01258.hp1 HG01884.hp1 HG01943.hp2 HG01978.hp2 HG02145.hp2 HG02273.hp1 HG02698.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG03098.hp2 HG03195.hp1 HG03225.hp2 HG03471.hp1 HG03516.hp2 HG03927.hp2 NA18522.hp1 NA18943.hp2 NA18951.hp2 NA18960.hp1 NA18982.hp2 NA18987.hp2 NA18992.hp2 NA18995.hp2 NA19012.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19082.hp2 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0045 a0001c0001t0068 a0001c0001t0070 a0004c0008t0050	a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 others(29): Show a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0251 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0067 a0001c0001t0002g0073 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0088 a0001c0001t0002g0098 a0001c0001t0002g0114 a0001c0001t0002g0120 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0004g0019 a0001c0001t0004g0298 a0001c0001t0004g0311 a0001c0001t0004g0313 a0001c0001t0004g0314 a0001c0001t0004g0316 a0001c0001t0004g0317 a0001c0001t0004g0319 a0001c0001t0004g0320 a0001c0001t0007g0176 a0001c0001t0007g0273 a0001c0001t0007g0275 a0001c0001t0045g0289 a0001c0001t0068g0084 a0001c0001t0070g0093 a0004c0008t0050g0318	32	389	0.0823	33	c.-90 others(52): Show c.-908-9640_-908-9639insACTTGGCGCCCTGTCCGGGTAGGTGC TGCGGGG	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
KBTBD11_chr8_1968677_2011936	1990844	C C	CCTTGGCG others(26): Show CCTTGGCGCCCTGTCCGGGTAGGTGCTGCCGGGA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0127 a0001c0001t0002g0127	1	389	0.0026	33	c.-90 others(52): Show c.-908-9413_-908-9412insCGGGACTTGGCGCCCTGTCCGGGTAG GTGCTGC	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
KBTBD11_chr8_1968677_2011936	1990877	C C	CCTTGGCG others(26): Show CCTTGGCGCCCTGTCCGGGTAGGTGCTGCCGGGA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01192.hp1 HG01258.hp1 others(22): Show HG00733.hp2 HG01192.hp1 HG01258.hp1 HG01884.hp1 HG01943.hp2 HG01978.hp2 HG02145.hp2 HG02155.hp2 HG02273.hp1 HG02698.hp1 HG02738.hp2 HG02886.hp2 HG03098.hp2 HG03195.hp1 HG03225.hp2 HG03471.hp1 NA18522.hp1 NA18960.hp1 NA18982.hp2 NA18992.hp2 NA19012.hp1 NA19068.hp2 NA19074.hp2 NA19082.hp2 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0045 a0001c0001t0068 a0001c0001t0070 a0004c0008t0050	a0001c0001t0001g0251 a0001c0001t0002g0004 a0001c0001t0002g0007 others(22): Show a0001c0001t0001g0251 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0067 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0098 a0001c0001t0002g0114 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0004g0019 a0001c0001t0004g0298 a0001c0001t0004g0316 a0001c0001t0004g0317 a0001c0001t0004g0319 a0001c0001t0004g0320 a0001c0001t0006g0057 a0001c0001t0007g0273 a0001c0001t0007g0275 a0001c0001t0045g0289 a0001c0001t0068g0084 a0001c0001t0070g0093 a0004c0008t0050g0318	25	389	0.0643	33	c.-90 others(52): Show c.-908-9380_-908-9379insCGGGACTTGGCGCCCTGTCCGGGTAG GTGCTGC	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
KBTBD11_chr8_1968677_2011936	1990910	C C	CCTTGGCG others(26): Show CCTTGGCGCCCTGTCCGGGTAGGTGCTGCCGGGA	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA19240.hp1 HG02615.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0143 a0001c0001t0004g0144 a0001c0001t0004g0143 a0001c0001t0004g0144	2	389	0.0051	33	c.-90 others(52): Show c.-908-9354_-908-9353insGTGCTGCCGGGACTTGGCGCCCTGTC CGGGTAG	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
KBTBD11_chr8_1968677_2011936	1990972	G G	CGGGCCTT others(26): Show CGGGCCTTGGCGCCCTGTCCGGGTAGGTGCTGCG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0095 a0001c0001t0028g0095	1	389	0.0026	33	c.-90 others(52): Show c.-908-9314_-908-9313insCGGGCCTTGGCGCCCTGTCCGGGTAG GTGCTGC	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding	1/1			chr8	TogoVar
KBTBD11_chr8_1968677_2011936	1991004	C C	CGGGGCCT others(26): Show CGGGGCCTTGGCGCCCTGTCCGGGTAGGTGCTGT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18951.hp2 NA18993.hp2 others(1): Show NA18943.hp2 NA18951.hp2 NA18993.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 others(1): Show a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0191	4	389	0.0103	33	c.-90 others(52): Show c.-908-9255_-908-9254insGTGCTGTGGGGCCTTGGCGCCCTGTC CGGGTAG	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
KBTBD11_chr8_1968677_2011936	1991026	G G	GGTAGGTG others(26): Show GGTAGGTGCTGCGGGGCCTTGGCGCCCTGTCCGT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0192 a0001c0001t0074g0192	1	389	0.0026	33	c.-90 others(52): Show c.-908-9255_-908-9254insGTGCTGCGGGGCCTTGGCGCCCTGTC CGTGTAG	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
KBTBD2_chr7_32863172_32896760	32891887	G G	GCCGCCCC others(26): Show GCCGCCCCCGCCGCCCCCGCCCCCGCCCCCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG03710.hp2 HG03704.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	2	434	0.0046	33	c.-69 others(42): Show c.-691_-690insGGGCGGGGGCGGGGGCGGGGGCGGCGGGGGCGG	KBTBD2	ENSG00000170852.12	transcript	ENST00000304056.9	protein_coding		128		chr7	TogoVar
KCNB1_chr20_49358877_49487668	49425670	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	278	0.0036	33	c.568 others(52): Show c.568-50679_568-50678insTATATATATATATATATATATATATA TATATAT	KCNB1	ENSG00000158445.10	transcript	ENST00000371741.6	protein_coding	1/1			chr20	TogoVar
KCNB1_chr20_49358877_49487668	49425670	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0011 a0001c0001t0004g0011	1	278	0.0036	33	c.568 others(52): Show c.568-50679_568-50678insCATATATATATATATATATATATATA TATATAT	KCNB1	ENSG00000158445.10	transcript	ENST00000371741.6	protein_coding	1/1			chr20	TogoVar
KCNC2_chr12_75035078_75214839	75138979	T T	TAAAAAAA others(26): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG01099.hp2 others(1): Show HG00423.hp2 HG00438.hp1 HG01099.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0052 a0001c0001t0002g0161 a0001c0001t0002g0268 others(1): Show a0001c0001t0002g0052 a0001c0001t0002g0161 a0001c0001t0002g0268 a0001c0001t0004g0027	4	316	0.0127	33	c.687 others(52): Show c.687+68317_687+68318insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	KCNC2	ENSG00000166006.14	transcript	ENST00000549446.6	protein_coding	2/4			chr12	TogoVar
KCNG2_chr18_79792938_79905100	79878258	A A	AGAGGGCG others(26): Show AGAGGGCGCCTGATGCCCACGTGGCAGTGTGCGT	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	312	0.0032	33	c.624 others(52): Show c.624+13999_624+14000insTGAGGGCGCCTGATGCCCACGTGGCA GTGTGCG	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG3_chr2_42437017_42498982	42441732	C C	CTATAAAA others(26): Show CTATAAAATATATACACATATATATACCTATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	342	0.0029	33	c.22 others(44): Show c.2201_*2202insCATATAGGTATATATATGTGTATATATTTTATA	KCNG3	ENSG00000171126.8	transcript	ENST00000306078.2	protein_coding		284		chr2	TogoVar
KCNH1_chr1_210673314_211139148	210718540	A A	ATATATTT others(26): Show ATATATTTATATATATAAAATATATACATATATT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0130 a0001c0001t0003g0130	1	164	0.0061	33	c.211 others(54): Show c.2113-34403_2113-34402insAATATATGTATATATTTTATATAT ATAAATATA	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	10/10			chr1	TogoVar
KCNH1_chr1_210673314_211139148	210806824	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0066 a0001c0002t0001g0066	1	164	0.0061	33	c.146 others(52): Show c.1463-2659_1463-2658insATATATATATATATATATATATATAT ATATATA	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	7/10			chr1	TogoVar
KCNH5_chr14_62694464_63050458	62853453	A A	AATCATAT others(26): Show AATCATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	224	0.0045	33	c.137 others(52): Show c.1370-3602_1370-3601insATATATATATATATATATATATATAT ATATGAT	KCNH5	ENSG00000140015.20	transcript	ENST00000322893.12	protein_coding	7/10			chr14	TogoVar
KCNH5_chr14_62694464_63050458	62853458	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01981.hp1 HG02293.hp2 others(9): Show HG00639.hp2 HG01981.hp1 HG02293.hp2 HG03471.hp1 HG03579.hp1 NA18951.hp2 NA18961.hp2 NA19043.hp2 NA19074.hp1 NA19085.hp2 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0035 a0001c0001t0049 a0002c0002t0004 a0002c0002t0050	a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0045 others(9): Show a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0045 a0001c0001t0002g0036 a0001c0001t0002g0054 a0001c0001t0005g0052 a0001c0001t0005g0085 a0001c0001t0006g0068 a0001c0001t0035g0016 a0001c0001t0049g0031 a0002c0002t0004g0088 a0002c0002t0050g0090	12	224	0.0536	33	c.137 others(52): Show c.1370-3607_1370-3606insGATATATATATATATATATATATATA TATATAT	KCNH5	ENSG00000140015.20	transcript	ENST00000322893.12	protein_coding	7/10			chr14	TogoVar
KCNH8_chr3_19143510_19540642	19534634	A A	ATTTGGGG others(26): Show ATTTGGGGGTTTGTTTTTGTTTGGTTGTTTGGGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0107 a0001c0001t0007g0107	1	134	0.0075	33	c.53 others(42): Show c.539_*540insGGGGTTTGTTTTTGTTTGGTTGTTTGGGTTTTG	KCNH8	ENSG00000183960.9	transcript	ENST00000328405.7	protein_coding	16/16	540	INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNIP4_chr4_20723606_21953772	20775697	A A	ACTGTCTT others(26): Show ACTGTCTTCAAATAAATAATTAAAAAGAATAATG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0057 a0001c0001t0009g0057	1	80	0.0125	33	c.289 others(52): Show c.289-16808_289-16807insCATTATTCTTTTTAATTATTTATTTG AAGACAG	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	3/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	20857568	A A	ACATATAT others(26): Show ACATATATATCTCCTATGCATATATATGGGTTTC	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02109.hp2 HG02280.hp1 others(6): Show HG01517.hp1 HG02109.hp2 HG02280.hp1 HG02486.hp2 HG02647.hp1 HG02896.hp2 HG02897.hp1 HG03516.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014	a0001c0001t0002g0020 a0001c0001t0002g0036 a0001c0001t0002g0063 others(6): Show a0001c0001t0002g0020 a0001c0001t0002g0036 a0001c0001t0002g0063 a0001c0001t0003g0061 a0001c0001t0007g0046 a0001c0001t0009g0004 a0001c0001t0009g0057 a0001c0001t0013g0059 a0001c0001t0014g0077	9	80	0.1125	33	c.164 others(50): Show c.164-6934_164-6902dupGAAACCCATATATATGCATAGGAGATAT ATATG	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	2/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21400465	T T	TTTCTCCT others(26): Show TTTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02486.hp1 HG02572.hp2 others(6): Show HG01106.hp2 HG02486.hp1 HG02572.hp2 HG02896.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 NA18948.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0002t0004 a0001c0002t0006 a0001c0005t0003	a0001c0001t0001g0014 a0001c0001t0001g0051 a0001c0001t0002g0020 others(6): Show a0001c0001t0001g0014 a0001c0001t0001g0051 a0001c0001t0002g0020 a0001c0001t0003g0002 a0001c0001t0004g0025 a0001c0001t0007g0016 a0001c0002t0004g0028 a0001c0002t0006g0053 a0001c0005t0003g0007	9	80	0.1125	33	c.62- others(52): Show c.62-517757_62-517756insGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21531820	A A	AGTATTTT others(26): Show AGTATTTTAAATATATTATTTTATTCTACTTTAG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0065 a0001c0002t0001g0065	1	80	0.0125	33	c.61+ others(52): Show c.61+416718_61+416750dupCTAAAGTAGAATAAAATAATATATTT AAAATAC	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar

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Search Results (Total: 4928 hits)