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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
PLCL1_chr2_197799593_198154863	197918971	T T	TCTCTCTC others(21): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0169 a0001c0001t0017g0169	1	204	0.0049	28	c.240 others(49): Show c.240+113633_240+113634insTCTCTCTCTCTCTCTCTCTCTCTC TCAC	PLCL1	ENSG00000115896.17	transcript	ENST00000428675.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLCXD1_chrX_276381_308356	283523	A A	AGTGGGGG others(21): Show AGTGGGGGCGGCCGTGGTGTCAGGCCCGG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03139.hp1 HG01891.hp1 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0044 a0001c0003t0006 a0001c0003t0044	a0001c0003t0006g0114 a0001c0003t0044g0115 a0001c0003t0006g0114 a0001c0003t0044g0115	2	176	0.0114	28	c.-21 others(43): Show c.-21-631_-21-604dupGTGGTGTCAGGCCCGGGTGGGGGCGGCC	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD3_chr5_41301952_41515601	41403394	A A	ATTTGTTT others(21): Show ATTTGTTTTTTTTTTTTTTTTTTTTTGTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0188 a0001c0001t0008g0188	1	244	0.0041	28	c.104 others(47): Show c.104-20861_104-20860insAACAAAAAAAAAAAAAAAAAAAAACA AA	PLCXD3	ENSG00000182836.11	transcript	ENST00000377801.8	protein_coding	1/2			chr5	TogoVar
PLCXD3_chr5_41301952_41515601	41403394	A A	ATTTGTTT others(21): Show ATTTGTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	244	0.0041	28	c.104 others(47): Show c.104-20861_104-20860insAAAAAAAAAAAAAAAAAAAAAAAACA AA	PLCXD3	ENSG00000182836.11	transcript	ENST00000377801.8	protein_coding	1/2			chr5	TogoVar
PLCXD3_chr5_41301952_41515601	41403398	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTGTTTTTGTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0187 a0001c0001t0068g0187	1	244	0.0041	28	c.104 others(47): Show c.104-20865_104-20864insAAACAAAAACAAAAAAAAAAAAAAAA AA	PLCXD3	ENSG00000182836.11	transcript	ENST00000377801.8	protein_coding	1/2			chr5	TogoVar
PLCXD3_chr5_41301952_41515601	41403398	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTGTTTTTGT	intron_variant intron_variant	MODIFIER	HG01175.hp2 NA18940.hp1 HG01175.hp2 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0040 a0001c0001t0002 a0001c0001t0040	a0001c0001t0002g0155 a0001c0001t0040g0140 a0001c0001t0002g0155 a0001c0001t0040g0140	2	244	0.0082	28	c.104 others(47): Show c.104-20865_104-20864insACAAAAACAAAAAAAAAAAAAAAAAA AA	PLCXD3	ENSG00000182836.11	transcript	ENST00000377801.8	protein_coding	1/2			chr5	TogoVar
PLCXD3_chr5_41301952_41515601	41403398	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTGTTTTTTT	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18999.hp1 NA18991.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0129 a0001c0001t0003g0152 a0001c0001t0003g0129 a0001c0001t0003g0152	2	244	0.0082	28	c.104 others(47): Show c.104-20865_104-20864insAAAAAAACAAAAAAAAAAAAAAAAAA AA	PLCXD3	ENSG00000182836.11	transcript	ENST00000377801.8	protein_coding	1/2			chr5	TogoVar
PLCXD3_chr5_41301952_41515601	41403398	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTGT	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0242 a0001c0001t0061g0242	1	244	0.0041	28	c.104 others(47): Show c.104-20865_104-20864insACAAAAAAAAAAAAAAAAAAAAAAAA AA	PLCXD3	ENSG00000182836.11	transcript	ENST00000377801.8	protein_coding	1/2			chr5	TogoVar
PLCXD3_chr5_41301952_41515601	41403407	T T	TGTTTTGT others(21): Show TGTTTTGTTTTGTTTTTGTTTTTTTTTAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01192.hp1 HG01884.hp2 others(13): Show HG01081.hp2 HG01192.hp1 HG01884.hp2 HG01891.hp2 HG02080.hp2 HG02559.hp2 HG02622.hp1 HG02630.hp2 HG02809.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG03041.hp1 HG03225.hp2 NA18522.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 others(7): Show a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0017 a0001c0001t0025 a0001c0001t0027 a0001c0001t0030 a0001c0001t0037 a0001c0001t0042 a0001c0001t0049	a0001c0001t0008g0071 a0001c0001t0008g0072 a0001c0001t0008g0122 others(13): Show a0001c0001t0008g0071 a0001c0001t0008g0072 a0001c0001t0008g0122 a0001c0001t0008g0230 a0001c0001t0009g0231 a0001c0001t0009g0237 a0001c0001t0011g0014 a0001c0001t0011g0139 a0001c0001t0017g0195 a0001c0001t0025g0006 a0001c0001t0025g0025 a0001c0001t0027g0004 a0001c0001t0030g0024 a0001c0001t0037g0229 a0001c0001t0042g0196 a0001c0001t0049g0238	16	244	0.0656	28	c.104 others(47): Show c.104-20874_104-20873insGTAAAAAAAAACAAAAACAAAACAAA AC	PLCXD3	ENSG00000182836.11	transcript	ENST00000377801.8	protein_coding	1/2			chr5	TogoVar
PLCXD3_chr5_41301952_41515601	41403408	T T	TTTGTTTG others(21): Show TTTGTTTGTTTTGTTTTTGTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01106.hp2 HG01175.hp1 others(10): Show HG00140.hp2 HG01106.hp2 HG01175.hp1 HG01361.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG02602.hp2 HG02615.hp1 HG02818.hp2 HG03516.hp2 HG03579.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0019 a0001c0001t0029 others(4): Show a0001c0001t0007 a0001c0001t0019 a0001c0001t0029 a0001c0001t0035 a0001c0001t0036 a0001c0001t0041 a0001c0001t0050	a0001c0001t0007g0108 a0001c0001t0007g0109 a0001c0001t0007g0111 others(10): Show a0001c0001t0007g0108 a0001c0001t0007g0109 a0001c0001t0007g0111 a0001c0001t0007g0168 a0001c0001t0007g0171 a0001c0001t0019g0096 a0001c0001t0019g0124 a0001c0001t0029g0104 a0001c0001t0029g0112 a0001c0001t0035g0236 a0001c0001t0036g0239 a0001c0001t0041g0205 a0001c0001t0050g0049	13	244	0.0533	28	c.104 others(47): Show c.104-20875_104-20874insTAAAAAAAAACAAAAACAAAACAAAC AA	PLCXD3	ENSG00000182836.11	transcript	ENST00000377801.8	protein_coding	1/2			chr5	TogoVar
PLCXD3_chr5_41301952_41515601	41411828	A A	ATATCCAT others(21): Show ATATCCATATATATATCTCCATATATATG	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18999.hp2 NA19010.hp2 NA18993.hp1 NA18999.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046	3	244	0.0123	28	c.104 others(47): Show c.104-29322_104-29295dupCATATATATGGAGATATATATATGGA TA	PLCXD3	ENSG00000182836.11	transcript	ENST00000377801.8	protein_coding	1/2			chr5	TogoVar
PLCZ1_chr12_18678180_18743012	18696322	C C	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01358.hp1 HG03209.hp2 others(3): Show HG00099.hp2 HG01358.hp1 HG03209.hp2 NA18939.hp1 NA18939.hp2 NA19006.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0002c0003t0001 a0001c0001t0001 a0001c0001t0003 a0002c0003t0001	a0001c0001t0001g0066 a0001c0001t0001g0122 a0001c0001t0001g0207 others(3): Show a0001c0001t0001g0066 a0001c0001t0001g0122 a0001c0001t0001g0207 a0001c0001t0001g0245 a0001c0001t0003g0282 a0002c0003t0001g0071	6	326	0.0184	28	c.117 others(43): Show c.1175-84_1175-57dupTATATATATATATATATATATATATATA	PLCZ1	ENSG00000139151.16	transcript	ENST00000266505.12	protein_coding	10/14			chr12	TogoVar
PLCZ1_chr12_18678180_18743012	18696348	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	326	0.0031	28	c.117 others(43): Show c.1175-83_1175-82insGATATATATATATATATATATATATATA	PLCZ1	ENSG00000139151.16	transcript	ENST00000266505.12	protein_coding	10/14			chr12	TogoVar
PLD1_chr3_171595404_171815483	171656156	T T	TTTTATTT others(21): Show TTTTATTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0038 a0002c0003t0003g0038	1	294	0.0034	28	c.242 others(47): Show c.2429+3029_2429+3056dupTAAATAAATAAATAAATAAATAAATA AA	PLD1	ENSG00000075651.17	transcript	ENST00000351298.9	protein_coding	21/26			chr3	TogoVar
PLD1_chr3_171595404_171815483	171656156	T T	TTTTTTTT others(21): Show TTTTTTTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0012 a0010c0013t0012	a0010c0013t0012g0086 a0010c0013t0012g0086	1	294	0.0034	28	c.242 others(47): Show c.2429+3056_2429+3057insTAAATAAATAAATAAATAAATAAAAA AA	PLD1	ENSG00000075651.17	transcript	ENST00000351298.9	protein_coding	21/26			chr3	TogoVar
PLD1_chr3_171595404_171815483	171764878	A A	AGAAAGAG others(21): Show AGAAAGAGAAAGAAAGGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG01106.hp1 others(2): Show HG00099.hp2 HG00639.hp2 HG01106.hp1 HG01943.hp2 NA19058.hp1	a0001 a0001	a0001c0002 a0001c0019 a0001c0002 a0001c0019	a0001c0002t0002 a0001c0019t0001 a0001c0002t0002 a0001c0019t0001	a0001c0002t0002g0183 a0001c0002t0002g0226 a0001c0002t0002g0238 others(2): Show a0001c0002t0002g0183 a0001c0002t0002g0226 a0001c0002t0002g0238 a0001c0002t0002g0240 a0001c0019t0001g0140	5	294	0.0170	28	c.-31 others(47): Show c.-31-26797_-31-26796insCTTTCTTTCTTTCCTTTCTTTCTCTT TC	PLD1	ENSG00000075651.17	transcript	ENST00000351298.9	protein_coding	1/26			chr3	TogoVar
PLD1_chr3_171595404_171815483	171764882	A A	AGAAAGAG others(21): Show AGAAAGAGAAAGAAAGGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0034 a0001c0002t0002g0034	1	294	0.0034	28	c.-31 others(47): Show c.-31-26801_-31-26800insCTTTCTTTCTTTCCTTTCTTTCTCTT TC	PLD1	ENSG00000075651.17	transcript	ENST00000351298.9	protein_coding	1/26			chr3	TogoVar
PLD5_chr1_242077986_242529697	242112339	G G	GTGTGTAT others(21): Show GTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0081 a0002c0003t0006g0081	1	188	0.0053	28	c.107 others(47): Show c.1070+1550_1070+1551insTATATATATATATATATATATATACA CA	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	7/9			chr1	TogoVar
PLD5_chr1_242077986_242529697	242207848	A A	ATTTATAT others(21): Show ATTTATATATATTTATATTTATATATATT	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	188	0.0053	28	c.735 others(47): Show c.735+12139_735+12140insAATATATATAAATATAAATATATATA AA	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	5/9			chr1	TogoVar
PLD5_chr1_242077986_242529697	242394444	G G	GAACATAT others(21): Show GAACATATATATGTGTATATATGTGAACA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0046 a0001c0001t0033g0046	1	188	0.0053	28	c.190 others(47): Show c.190-46203_190-46202insTGTTCACATATATACACATATATATG TT	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9			chr1	TogoVar
PLD5_chr1_242077986_242529697	242394969	T T	TTATATAT others(21): Show TTATATATGAATATATATGAATATATATG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	188	0.0053	28	c.190 others(47): Show c.190-46755_190-46728dupCATATATATTCATATATATTCATATA TA	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9			chr1	TogoVar
PLD6_chr17_17195995_17211333	17196160	C C	CCTTATAA others(21): Show CCTTATAACGCCTCTAGTACCCAGCATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	436	0.0023	28	c.66 others(39): Show c.6606_*6607insAGATGCTGGGTACTAGAGGCGTTATAAG	PLD6	ENSG00000179598.6	transcript	ENST00000321560.4	protein_coding		4834		chr17	TogoVar
PLEKHA2_chr8_38896346_38978912	38933790	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01496.hp1 NA21309.hp2 HG01175.hp2 HG01496.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0263 a0001c0001t0002g0170 a0001c0001t0002g0318 a0001c0001t0001g0263 a0001c0001t0002g0170 a0001c0001t0002g0318	3	376	0.0080	28	c.142 others(45): Show c.142-2200_142-2199insAAAAAAAAAAAAAAAAAAAAAAAGAAAA	PLEKHA2	ENSG00000169499.15	transcript	ENST00000617275.5	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
PLEKHA5_chr12_19124733_19381400	19253064	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA19087.hp1 HG01109.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0183 a0001c0001t0002g0134 a0001c0001t0001g0183 a0001c0001t0002g0134	2	316	0.0063	28	c.228 others(43): Show c.228-850_228-849insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PLEKHA5	ENSG00000052126.17	transcript	ENST00000429027.7	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLEKHA5_chr12_19124733_19381400	19334829	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0181 a0001c0001t0004g0181	1	316	0.0032	28	c.244 others(47): Show c.2449-1685_2449-1684insAAAAAAAAAAAAAAAAAAAAAAAAAA TA	PLEKHA5	ENSG00000052126.17	transcript	ENST00000429027.7	protein_coding	20/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLEKHA5_chr12_19124733_19381400	19334829	A A	AAAAAAAA others(21): Show AAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	316	0.0032	28	c.244 others(47): Show c.2449-1685_2449-1684insAAAAAAAATATATATATATATATATA TA	PLEKHA5	ENSG00000052126.17	transcript	ENST00000429027.7	protein_coding	20/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLEKHA7_chr11_16772297_17019414	16892432	G G	GTTTTGTT others(21): Show GTTTTGTTTTGTTTTGTTTTGTTTTGTTT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	244	0.0041	28	c.222 others(47): Show c.222-21251_222-21250insAAACAAAACAAAACAAAACAAAACAA AA	PLEKHA7	ENSG00000166689.18	transcript	ENST00000531066.6	protein_coding	3/26			chr11	TogoVar
PLEKHA7_chr11_16772297_17019414	17015877	C C	CCATACAC others(21): Show CCATACACACACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp2 NA18970.hp1 NA19085.hp2 NA18969.hp2 NA18970.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0044 a0001c0001 a0001c0010 a0001c0044	a0001c0001t0003 a0001c0010t0001 a0001c0044t0005 a0001c0001t0003 a0001c0010t0001 a0001c0044t0005	a0001c0001t0003g0004 a0001c0010t0001g0228 a0001c0044t0005g0229 a0001c0001t0003g0004 a0001c0010t0001g0228 a0001c0044t0005g0229	3	244	0.0123	28	c.-14 others(39): Show c.-1477_-1476insTGTGTGTGTGTGTGTGTGTGTGTGTATG	PLEKHA7	ENSG00000166689.18	transcript	ENST00000531066.6	protein_coding		1464		chr11	TogoVar
PLEKHG1_chr6_150594885_150848665	150628575	C C	CACACACA others(21): Show CACACACACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01069.hp2 HG01192.hp1 others(2): Show HG00735.hp2 HG01069.hp2 HG01192.hp1 HG02056.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0018 others(1): Show a0001c0001 a0001c0007 a0001c0018 a0001c0046	a0001c0001t0001 a0001c0001t0022 a0001c0007t0003 others(2): Show a0001c0001t0001 a0001c0001t0022 a0001c0007t0003 a0001c0018t0001 a0001c0046t0004	a0001c0001t0001g0030 a0001c0001t0022g0093 a0001c0007t0003g0026 others(2): Show a0001c0001t0001g0030 a0001c0001t0022g0093 a0001c0007t0003g0026 a0001c0018t0001g0208 a0001c0046t0004g0032	5	272	0.0184	28	c.-15 others(49): Show c.-157-22151_-157-22150insACACACACACACACACACACACAC ATAC	PLEKHG1	ENSG00000120278.17	transcript	ENST00000696526.1	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLEKHG1_chr6_150594885_150848665	150644334	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0207 a0001c0004t0001g0207	1	272	0.0037	28	c.-15 others(47): Show c.-157-6376_-157-6375insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PLEKHG1	ENSG00000120278.17	transcript	ENST00000696526.1	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLEKHG1_chr6_150594885_150848665	150804155	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0201 a0001c0001t0005g0201	1	272	0.0037	28	c.781 others(43): Show c.781-434_781-433insATATATATATATATATATATATATATAT	PLEKHG1	ENSG00000120278.17	transcript	ENST00000696526.1	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLEKHG1_chr6_150594885_150848665	150804175	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01515.hp2 HG03490.hp2 others(1): Show HG01261.hp1 HG01515.hp2 HG03490.hp2 NA20129.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0001c0006 a0005c0014 a0001c0002 a0001c0006 a0005c0014	a0001c0002t0001 a0001c0002t0006 a0001c0006t0008 others(1): Show a0001c0002t0001 a0001c0002t0006 a0001c0006t0008 a0005c0014t0003	a0001c0002t0001g0170 a0001c0002t0006g0174 a0001c0006t0008g0146 others(1): Show a0001c0002t0001g0170 a0001c0002t0006g0174 a0001c0006t0008g0146 a0005c0014t0003g0063	4	272	0.0147	28	c.781 others(43): Show c.781-434_781-433insATATATATATATATATATATATATTTTT	PLEKHG1	ENSG00000120278.17	transcript	ENST00000696526.1	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLEKHG1_chr6_150594885_150848665	150804175	A A	ATATATAT others(21): Show ATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA19240.hp1 HG00738.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0001 a0001c0006t0001 a0001c0002t0001 a0001c0006t0001	a0001c0002t0001g0036 a0001c0006t0001g0001 a0001c0002t0001g0036 a0001c0006t0001g0001	2	272	0.0074	28	c.781 others(43): Show c.781-434_781-433insATATATATATATATATATATATTTTTTT	PLEKHG1	ENSG00000120278.17	transcript	ENST00000696526.1	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLEKHG1_chr6_150594885_150848665	150804175	A A	ATATATAT others(21): Show ATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0078 a0001c0006t0004g0078	1	272	0.0037	28	c.781 others(43): Show c.781-434_781-433insATATATATATATATATATATTTTTTTTT	PLEKHG1	ENSG00000120278.17	transcript	ENST00000696526.1	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLEKHG1_chr6_150594885_150848665	150810514	A A	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02896.hp1 HG00558.hp2 HG02896.hp1	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0001 a0001c0008t0003 a0001c0002t0001 a0001c0008t0003	a0001c0002t0001g0167 a0001c0008t0003g0117 a0001c0002t0001g0167 a0001c0008t0003g0117	2	272	0.0074	28	c.127 others(45): Show c.1278+804_1278+805insAAAGAAAGAAAGAAAGAAAGAAAGAAAG	PLEKHG1	ENSG00000120278.17	transcript	ENST00000696526.1	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLEKHG3_chr14_64699424_64755249	64751927	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0025 a0002c0004t0025	a0002c0004t0025g0030 a0002c0004t0025g0030	1	248	0.0040	28	c.82 others(39): Show c.8224_*8225insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PLEKHG3	ENSG00000126822.18	transcript	ENST00000247226.13	protein_coding		1679		chr14	TogoVar
PLEKHG4B_chr5_87168_194966	108583	G G	GGTGCAGA others(21): Show GGTGCAGATGGCTGGTGTAGACAGACTGA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0014 a0014	a0014c0065 a0014c0065	a0014c0065t0038 a0014c0065t0038	a0014c0065t0038g0166 a0014c0065t0038g0166	1	210	0.0048	28	c.46- others(43): Show c.46-4641_46-4640insAGTGCAGATGGCTGGTGTAGACAGACTG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	134080	T T	TATATATA others(21): Show TATATATATATATATATATATATGATAGA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0123 a0001c0001t0005g0123	1	210	0.0048	28	c.244 others(45): Show c.244-5381_244-5380insGATAGAATATATATATATATATATATAT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	164564	C C	CGGGGCGG others(21): Show CGGGGCGGAGCTCACACAGTAATGCTCTG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01261.hp1 HG02622.hp1 others(4): Show HG01081.hp1 HG01261.hp1 HG02622.hp1 HG03579.hp1 NA18970.hp2 NA19088.hp2 homoSapiens_chm13v2.hp1	a0002 a0004 a0011 others(1): Show a0002 a0004 a0011 a0016	a0002c0057 a0004c0006 a0004c0043 others(3): Show a0002c0057 a0004c0006 a0004c0043 a0004c0054 a0011c0023 a0016c0018	a0002c0057t0003 a0004c0006t0002 a0004c0006t0134 others(4): Show a0002c0057t0003 a0004c0006t0002 a0004c0006t0134 a0004c0043t0126 a0004c0054t0034 a0011c0023t0041 a0016c0018t0034	a0002c0057t0003g0026 a0004c0006t0002g0119 a0004c0006t0134g0011 others(4): Show a0002c0057t0003g0026 a0004c0006t0002g0119 a0004c0006t0134g0011 a0004c0043t0126g0099 a0004c0054t0034g0139 a0011c0023t0041g0184 a0016c0018t0034g0004	7	210	0.0333	28	c.347 others(47): Show c.3476+1016_3476+1017insGGGGCGGAGCTCACACAGTAATGCTC TG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19			chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165139	C C	CGGGGCAG others(21): Show CGGGGCAGAGCTCACACTAATGCTCTGAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0004 a0004	a0004c0041 a0004c0041	a0004c0041t0003 a0004c0041t0003	a0004c0041t0003g0077 a0004c0041t0003g0077	1	210	0.0048	28	c.347 others(47): Show c.3476+1596_3476+1597insAGAGCTCACACTAATGCTCTGATGGG GC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165147	A A	AGCTCACA others(21): Show AGCTCACACTAATGCTCTGATGGGGCGGG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0015 a0015	a0015c0076 a0015c0076	a0015c0076t0067 a0015c0076t0067	a0015c0076t0067g0192 a0015c0076t0067g0192	1	210	0.0048	28	c.347 others(47): Show c.3476+1618_3476+1619insTGGGGCGGGGCTCACACTAATGCTCT GA	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165200	C C	CGGCGCTC others(21): Show CGGCGCTCACACTAATGCTCTGACGGGGT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0004 a0004	a0004c0041 a0004c0041	a0004c0041t0003 a0004c0041t0003	a0004c0041t0003g0077 a0004c0041t0003g0077	1	210	0.0048	28	c.347 others(47): Show c.3476+1654_3476+1655insCGCTCACACTAATGCTCTGACGGGGT GG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165203	A A	AGCTCACA others(21): Show AGCTCACACTAATGCTCTGACGGGGCGGG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0008 a0008	a0008c0024 a0008c0024	a0008c0024t0021 a0008c0024t0021	a0008c0024t0021g0175 a0008c0024t0021g0175	1	210	0.0048	28	c.347 others(47): Show c.3476+1682_3476+1683insGGCTCACACTAATGCTCTGACGGGGC GG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165262	T T	TCAGTAAT others(21): Show TCAGTAATCCTCTGACGGGGCGGAGCTCA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02723.hp1 HG03453.hp2 others(1): Show HG02109.hp1 HG02723.hp1 HG03453.hp2 HG03486.hp1	a0001 a0020 a0001 a0020	a0001c0001 a0001c0007 a0020c0081 a0001c0001 a0001c0007 a0020c0081	a0001c0001t0032 a0001c0007t0110 a0020c0081t0064 a0001c0001t0032 a0001c0007t0110 a0020c0081t0064	a0001c0001t0032g0094 a0001c0001t0032g0144 a0001c0007t0110g0151 others(1): Show a0001c0001t0032g0094 a0001c0001t0032g0144 a0001c0007t0110g0151 a0020c0081t0064g0200	4	210	0.0191	28	c.347 others(47): Show c.3476+1716_3476+1717insGTAATCCTCTGACGGGGCGGAGCTCA CA	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165341	A A	AGCTCACA others(21): Show AGCTCACACTAATGCTCTGACGGGGCGGG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0008 a0008	a0008c0025 a0008c0025	a0008c0025t0045 a0008c0025t0045	a0008c0025t0045g0172 a0008c0025t0045g0172	1	210	0.0048	28	c.347 others(47): Show c.3476+1801_3476+1828dupCTAATGCTCTGACGGGGCGGGGCTCA CA	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165362	G G	GGGGCGGG others(21): Show GGGGCGGGGCTCACACTAATGCTCTGACA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0010 a0010	a0010c0069 a0010c0069	a0010c0069t0019 a0010c0069t0019	a0010c0069t0019g0204 a0010c0069t0019g0204	1	210	0.0048	28	c.347 others(47): Show c.3476+1828_3476+1829insCTAATGCTCTGACAGGGCGGGGCTCA CA	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165366	C C	CGGGGCTC others(21): Show CGGGGCTCACAGTAATGCTCTGACGGGGT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0004 a0004	a0004c0041 a0004c0041	a0004c0041t0003 a0004c0041t0003	a0004c0041t0003g0077 a0004c0041t0003g0077	1	210	0.0048	28	c.347 others(47): Show c.3476+1833_3476+1834insGCTCTGACGGGGTGGGGCTCACAGTA AT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165425	G G	GGCTCACA others(21): Show GGCTCACAGTAATCCTCTGACGGGGCGGA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00741.hp2 HG02004.hp1 others(5): Show HG00323.hp1 HG00741.hp2 HG02004.hp1 HG02165.hp2 HG02602.hp1 HG02723.hp2 HG03516.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0006 a0001c0001t0031 a0001c0001t0097 others(5): Show a0001c0001t0006 a0001c0001t0031 a0001c0001t0097 a0001c0001t0104 a0001c0002t0006 a0001c0002t0022 a0001c0011t0029 a0001c0011t0106	a0001c0001t0006g0075 a0001c0001t0031g0112 a0001c0001t0097g0086 others(5): Show a0001c0001t0006g0075 a0001c0001t0031g0112 a0001c0001t0097g0086 a0001c0001t0104g0023 a0001c0002t0006g0134 a0001c0002t0022g0015 a0001c0011t0029g0136 a0001c0011t0106g0085	8	210	0.0381	28	c.347 others(47): Show c.3476+1884_3476+1885insGTAATCCTCTGACGGGGCGGAGCTCA CA	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165509	G G	GGCTCACA others(21): Show GGCTCACACTAATGCTCTGACGGGGCGGA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0015 a0015	a0015c0076 a0015c0076	a0015c0076t0067 a0015c0076t0067	a0015c0076t0067g0192 a0015c0076t0067g0192	1	210	0.0048	28	c.347 others(47): Show c.3476+1988_3476+1989insAGCTCACACTAATGCTCTGACGGGGC GG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165522	G G	GCTGTGAC others(21): Show GCTGTGACGGGGCGGGGCTCACAGTAATC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0010 a0010	a0010c0069 a0010c0069	a0010c0069t0019 a0010c0069t0019	a0010c0069t0019g0204 a0010c0069t0019g0204	1	210	0.0048	28	c.347 others(47): Show c.3476+1976_3476+1977insGTGACGGGGCGGGGCTCACAGTAATC CT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)