Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
IL36A_chr2_113000459_113013044	113009900	A A	ACTTATTT others(23): Show ACTTATTTTGAAGACTTCTTTTTAATCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	420	0.0024	30	c.18 others(41): Show c.1856_*1857insCTTATTTTGAAGACTTCTTTTTAATCCTCT	IL36A	ENSG00000136694.9	transcript	ENST00000259211.7	protein_coding		1857		chr2	TogoVar
IL36B_chr2_113017089_113057867	113017625	G G	GGAAGAAG others(23): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01346.hp1 HG01515.hp1 others(10): Show HG01109.hp1 HG01346.hp1 HG01515.hp1 HG01517.hp1 HG02135.hp1 HG02293.hp2 HG02572.hp2 HG03654.hp1 HG03942.hp1 NA18747.hp2 NA19068.hp2 NA19076.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0005 a0001c0001t0002g0011 a0001c0001t0002g0019 others(8): Show a0001c0001t0002g0005 a0001c0001t0002g0011 a0001c0001t0002g0019 a0001c0001t0002g0026 a0001c0001t0002g0034 a0001c0001t0002g0039 a0001c0001t0002g0043 a0001c0001t0002g0149 a0001c0001t0002g0169 a0001c0001t0002g0248 a0001c0001t0003g0198	13	404	0.0322	30	c.50 others(41): Show c.5048_*5049insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	IL36B	ENSG00000136696.11	transcript	ENST00000259213.9	protein_coding		4463		chr2	TogoVar
IL36B_chr2_113017089_113057867	113017679	A A	AGAAGAAG others(23): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02559.hp2 HG02965.hp2 others(1): Show HG02145.hp2 HG02559.hp2 HG02965.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0151 a0001c0001t0003g0035 a0001c0001t0003g0187 others(1): Show a0001c0001t0002g0151 a0001c0001t0003g0035 a0001c0001t0003g0187 a0001c0001t0003g0224	4	404	0.0099	30	c.49 others(41): Show c.4994_*4995insCTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	IL36B	ENSG00000136696.11	transcript	ENST00000259213.9	protein_coding		4409		chr2	TogoVar
IL3RA_chrX_1331785_1387689	1365949	C C	CGGGGTGA others(23): Show CGGGGTGAGCGGGGGTGAGCGGGGTGCGCGG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	115	0.0087	30	c.874 others(45): Show c.874+699_874+700insGGTGAGCGGGGGTGAGCGGGGTGCGCGGGG	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL5RA_chr3_3061324_3115374	3069630	T T	TTCTCTCT others(23): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02886.hp2 HG02922.hp1 HG06807.hp1 others(1): Show HG02886.hp2 HG02922.hp1 HG06807.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0054 a0001c0001t0055 a0001c0001t0169 others(1): Show a0001c0001t0054 a0001c0001t0055 a0001c0001t0169 a0002c0002t0170	a0001c0001t0054g0009 a0001c0001t0055g0011 a0001c0001t0169g0377 others(1): Show a0001c0001t0054g0009 a0001c0001t0055g0011 a0001c0001t0169g0377 a0002c0002t0170g0381	4	454	0.0088	30	c.56 others(39): Show c.565_*594dupGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	IL5RA	ENSG00000091181.20	transcript	ENST00000446632.7	protein_coding	12/12	594		chr3	TogoVar
IL6R_chr1_154400343_154474450	154423260	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01496.hp1 HG01952.hp1 others(12): Show HG01255.hp1 HG01496.hp1 HG01952.hp1 HG02486.hp1 HG02602.hp1 HG02698.hp2 HG02717.hp2 HG03834.hp1 HG04199.hp2 NA18946.hp2 NA18960.hp1 NA18967.hp2 NA18980.hp2 NA19060.hp2 NA19077.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0002 a0002c0007 others(1): Show a0001c0003 a0002c0002 a0002c0007 a0003c0004	a0001c0003t0004 a0001c0003t0005 a0002c0002t0001 others(5): Show a0001c0003t0004 a0001c0003t0005 a0002c0002t0001 a0002c0002t0002 a0002c0002t0011 a0002c0002t0014 a0002c0007t0001 a0003c0004t0004	a0001c0003t0004g0128 a0001c0003t0004g0189 a0001c0003t0005g0265 others(12): Show a0001c0003t0004g0128 a0001c0003t0004g0189 a0001c0003t0005g0265 a0001c0003t0005g0288 a0001c0003t0005g0312 a0002c0002t0001g0011 a0002c0002t0001g0088 a0002c0002t0001g0104 a0002c0002t0002g0148 a0002c0002t0002g0159 a0002c0002t0002g0160 a0002c0002t0011g0210 a0002c0002t0014g0075 a0002c0007t0001g0083 a0003c0004t0004g0255	15	346	0.0434	30	c.86- others(45): Show c.86-5912_86-5911insATATATATATATATATATATATATATATAT	IL6R	ENSG00000160712.13	transcript	ENST00000368485.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
IL6R_chr1_154400343_154474450	154447476	T T	TATATATA others(23): Show TATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0161 a0002c0002t0002g0161	1	346	0.0029	30	c.950 others(45): Show c.950-648_950-647insTATATATATATATATATATATATACACACA	IL6R	ENSG00000160712.13	transcript	ENST00000368485.8	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
IL6R_chr1_154400343_154474450	154447504	T T	TATATACA others(23): Show TATATACACACATACATATATATACACATAC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03225.hp1 HG06807.hp2 others(2): Show HG02486.hp2 HG03225.hp1 HG06807.hp2 NA19030.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0004 a0001c0001t0024 a0001c0001t0027 others(2): Show a0001c0001t0004 a0001c0001t0024 a0001c0001t0027 a0001c0001t0039 a0001c0010t0042	a0001c0001t0004g0013 a0001c0001t0024g0279 a0001c0001t0027g0100 others(2): Show a0001c0001t0004g0013 a0001c0001t0024g0279 a0001c0001t0027g0100 a0001c0001t0039g0247 a0001c0010t0042g0020	5	346	0.0145	30	c.950 others(45): Show c.950-616_950-615insCACACATACATATATATACACATACATATA	IL6R	ENSG00000160712.13	transcript	ENST00000368485.8	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
ILDR1_chr3_121982323_122027247	122011677	T T	TCACACAC others(23): Show TCACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02055.hp2 HG02886.hp1 others(6): Show HG01975.hp1 HG02055.hp2 HG02886.hp1 HG02886.hp2 HG03654.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0002c0015 a0003c0007	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0002c0015t0001 a0003c0007t0001	a0001c0001t0001g0048 a0001c0001t0001g0076 a0001c0001t0001g0077 others(6): Show a0001c0001t0001g0048 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0003t0001g0075 a0002c0002t0001g0073 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0015t0001g0074 a0003c0007t0001g0288	9	378	0.0238	30	c.59- others(45): Show c.59-4517_59-4516insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	ILDR1	ENSG00000145103.15	transcript	ENST00000344209.10	protein_coding	1/7			chr3	TogoVar
ILRUN_chr6_34582288_34701767	34676417	C C	CAGATAGA others(23): Show CAGATAGATATAGCTAGCTAGCTAGCTAGAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01109.hp1 HG02071.hp2 others(2): Show HG00738.hp2 HG01109.hp1 HG02071.hp2 HG02818.hp2 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0030 a0001c0001t0002g0075	5	316	0.0158	30	c.158 others(49): Show c.158+19999_158+20028dupATCTAGCTAGCTAGCTAGCTATATCT ATCT	ILRUN	ENSG00000196821.10	transcript	ENST00000374023.8	protein_coding	1/4			chr6	TogoVar
ILRUN_chr6_34582288_34701767	34683431	T T	TATATATA others(23): Show TATATATACATATATATATACATATATATAC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	316	0.0032	30	c.158 others(49): Show c.158+13014_158+13015insGTATATATATGTATATATATATGTAT ATAT	ILRUN	ENSG00000196821.10	transcript	ENST00000374023.8	protein_coding	1/4			chr6	TogoVar
ILRUN_chr6_34582288_34701767	34683473	C C	CATATATA others(23): Show CATATATATACATATATATACATATATATAT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA19007.hp1 NA18612.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0011 a0001c0001t0004g0012	2	316	0.0063	30	c.158 others(49): Show c.158+12972_158+12973insATATATATATGTATATATATGTATAT ATAT	ILRUN	ENSG00000196821.10	transcript	ENST00000374023.8	protein_coding	1/4			chr6	TogoVar
IMMP2L_chr7_110657644_111567492	110902479	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0083 a0001c0001t0017g0083	1	84	0.0119	30	c.306 others(49): Show c.306-15785_306-15784insATATATATATATATATATATATATAT ATAT	IMMP2L	ENSG00000184903.10	transcript	ENST00000405709.7	protein_coding	4/5			chr7	TogoVar
IMMP2L_chr7_110657644_111567492	111016930	C C	CAATATAT others(23): Show CAATATATAATTATATATATATTTATATATA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	84	0.0119	30	c.240 others(49): Show c.240-53366_240-53365insTATATATAAATATATATATAATTATA TATT	IMMP2L	ENSG00000184903.10	transcript	ENST00000405709.7	protein_coding	3/5			chr7	TogoVar
IMMP2L_chr7_110657644_111567492	111556014	G G	GTGTATAT others(23): Show GTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0035 a0001c0001t0003g0035	1	84	0.0119	30	c.-3+ others(45): Show c.-3+5836_-3+5837insTATATATATATATATATATATATATATACA	IMMP2L	ENSG00000184903.10	transcript	ENST00000405709.7	protein_coding	1/5			chr7	TogoVar
IMMP2L_chr7_110657644_111567492	111556014	G G	GTGTGTAT others(23): Show GTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	84	0.0119	30	c.-3+ others(45): Show c.-3+5836_-3+5837insTATATATATATATATATATATATATACACA	IMMP2L	ENSG00000184903.10	transcript	ENST00000405709.7	protein_coding	1/5			chr7	TogoVar
IMPG1_chr6_75916114_76077662	76021778	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02148.hp2 HG01952.hp2 HG02148.hp2	a0003 a0008 a0003 a0008	a0003c0003 a0008c0008 a0003c0003 a0008c0008	a0003c0003t0001 a0008c0008t0001 a0003c0003t0001 a0008c0008t0001	a0003c0003t0001g0023 a0008c0008t0001g0139 a0003c0003t0001g0023 a0008c0008t0001g0139	2	302	0.0066	30	c.666 others(45): Show c.666+337_666+338insATATATATATATATATATATATATATATAT	IMPG1	ENSG00000112706.12	transcript	ENST00000369950.8	protein_coding	6/16			chr6	TogoVar
INAVA_chr1_200889900_200920742	200917808	G G	GCGCTCTC others(23): Show GCGCTCTCTCTCTCTCTCTCTCTCTCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	2	424	0.0047	30	c.41 others(41): Show c.4179_*4180insCGCTCTCTCTCTCTCTCTCTCTCTCTCTCT	INAVA	ENSG00000163362.11	transcript	ENST00000413687.3	protein_coding		2067		chr1	TogoVar
INAVA_chr1_200889900_200920742	200917808	G G	GCTCTCTC others(23): Show GCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0002 a0001c0002t0005g0002	1	424	0.0024	30	c.41 others(41): Show c.4179_*4180insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	INAVA	ENSG00000163362.11	transcript	ENST00000413687.3	protein_coding		2067		chr1	TogoVar
INAVA_chr1_200889900_200920742	200917847	C C	CTCTCTCT others(23): Show CTCTCTCTCTATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp1 NA19011.hp2 NA18949.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0005 a0001c0001t0001 a0001c0002t0005	a0001c0001t0001g0112 a0001c0002t0005g0151 a0001c0001t0001g0112 a0001c0002t0005g0151	2	424	0.0047	30	c.42 others(41): Show c.4218_*4219insTCTCTCTCTATATATATATATATATATATA	INAVA	ENSG00000163362.11	transcript	ENST00000413687.3	protein_coding		2106		chr1	TogoVar
INAVA_chr1_200889900_200920742	200917847	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0002 a0001c0002t0007g0002	1	424	0.0024	30	c.42 others(41): Show c.4218_*4219insTCTCTCTCTCTCTCTATATATATATATATA	INAVA	ENSG00000163362.11	transcript	ENST00000413687.3	protein_coding		2106		chr1	TogoVar
INAVA_chr1_200889900_200920742	200917847	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA19000.hp2 NA19054.hp1 NA18747.hp1 NA19000.hp2 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0001 a0001c0001t0004g0005 a0001c0001t0004g0072 a0001c0001t0003g0001 a0001c0001t0004g0005 a0001c0001t0004g0072	3	424	0.0071	30	c.42 others(41): Show c.4218_*4219insTCTCTCTCTCTCTCTCTCTATATATATATA	INAVA	ENSG00000163362.11	transcript	ENST00000413687.3	protein_coding		2106		chr1	TogoVar
INAVA_chr1_200889900_200920742	200917847	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02293.hp1 HG02074.hp1 HG02293.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0002 a0001c0002t0005	a0001c0002t0002g0017 a0001c0002t0005g0019 a0001c0002t0002g0017 a0001c0002t0005g0019	2	424	0.0047	30	c.42 others(41): Show c.4218_*4219insTCTCTCTCTCTCTCTCTCTCTCTATATATA	INAVA	ENSG00000163362.11	transcript	ENST00000413687.3	protein_coding		2106		chr1	TogoVar
INAVA_chr1_200889900_200920742	200917847	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0027 a0001c0001t0020g0027	1	424	0.0024	30	c.42 others(41): Show c.4218_*4219insTCTCTCTCTCTCTCTCTCTCTCTCTCTATA	INAVA	ENSG00000163362.11	transcript	ENST00000413687.3	protein_coding		2106		chr1	TogoVar
INAVA_chr1_200889900_200920742	200917847	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0027 a0001c0001t0020g0027	2	424	0.0047	30	c.42 others(41): Show c.4218_*4219insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTA	INAVA	ENSG00000163362.11	transcript	ENST00000413687.3	protein_coding		2106		chr1	TogoVar
INA_chr10_103272138_103295346	103278903	G G	GCACACAC others(23): Show GCACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0067 a0001c0002t0001g0067	1	418	0.0024	30	c.106 others(47): Show c.1065+629_1065+658dupACACACACACACACACACACACACACAC AC	INA	ENSG00000148798.11	transcript	ENST00000369849.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
ING1_chr13_110708700_110728339	110719019	T T	TTTGTGTT others(23): Show TTTGTGTTGTGTTGTGTTGTGTTGTGTTGTG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02976.hp1 HG03579.hp1 HG02622.hp2 HG02976.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0023 a0001c0002t0013g0023	3	438	0.0069	30	c.137 others(45): Show c.137-204_137-175dupTTGTGTTGTGTTGTGTTGTGTTGTGTTGTG	ING1	ENSG00000153487.13	transcript	ENST00000333219.9	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
INIP_chr9_112678926_112723117	112720430	A A	AGAAAAAG others(23): Show AGAAAAAGAAAAAGAAAAAAAAAAAAAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG04199.hp2 HG04204.hp1 HG03669.hp1 HG04199.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0137 a0001c0001t0003g0027 a0001c0001t0003g0137	3	372	0.0081	30	c.-25 others(41): Show c.-2501_-2500insCTTTTTTTTTTTTTTTTCTTTTTCTTTTTC	INIP	ENSG00000148153.14	transcript	ENST00000374242.9	protein_coding		2314		chr9	TogoVar
INKA2_chr1_111717064_111744395	111721765	A A	AGTGTGTG others(23): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	434	0.0023	30	c.51 others(41): Show c.5173_*5202dupACACACACACACACACACACACACACACAC	INKA2	ENSG00000197852.12	transcript	ENST00000357260.6	protein_coding		298		chr1	TogoVar
INO80_chr15_40973880_41121280	41046206	C C	CATACATA others(23): Show CATACATACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0265 a0001c0001t0008g0265	1	282	0.0036	30	c.273 others(49): Show c.2736-1132_2736-1131insATATATATATATATATATATATGTAT GTAT	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	23/35			chr15	TogoVar
INPP4A_chr2_98439858_98599392	98473308	C C	CGGGTGGA others(23): Show CGGGTGGAGTGGAGAGTGAGGAGGGCAGTGT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0224 a0001c0001t0005g0224	1	274	0.0037	30	c.-16 others(51): Show c.-166+28255_-166+28284dupGGTGGAGTGGAGAGTGAGGAGGGC AGTGTG	INPP4A	ENSG00000040933.16	transcript	ENST00000409851.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
INPP4B_chr4_142018160_142851301	142152066	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02965.hp2 HG02723.hp1 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0022 a0001c0002t0004 a0001c0002t0022	a0001c0002t0004g0052 a0001c0002t0022g0089 a0001c0002t0004g0052 a0001c0002t0022g0089	2	90	0.0222	30	c.156 others(49): Show c.1564-6071_1564-6070insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	17/25			chr4	TogoVar
INPP4B_chr4_142018160_142851301	142382581	A A	ATATATAC others(23): Show ATATATACTATAAATATATATATTTATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0015 a0001c0001t0021g0015	1	90	0.0111	30	c.372 others(49): Show c.372+20356_372+20357insATATATAAATATATATATTTATAGTA TATA	INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	7/25			chr4	TogoVar
INPP4B_chr4_142018160_142851301	142498218	C C	CACATATA others(23): Show CACATATACATACATATAAACACATATACAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0035 a0001c0001t0023g0035	1	90	0.0111	30	c.-19 others(51): Show c.-190-35493_-190-35492insATGTATATGTGTTTATATGTATGT ATATGT	INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	2/25			chr4	TogoVar
INPP4B_chr4_142018160_142851301	142564451	A A	AAGAAAGA others(23): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0074 a0001c0001t0013g0074	1	90	0.0111	30	c.-19 others(53): Show c.-190-101726_-190-101725insCTTTCTTTCTTTCTTTCTTTCT TTCTTTCT	INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	2/25			chr4	TogoVar
INPP4B_chr4_142018160_142851301	142720733	T T	TATATATA others(23): Show TATATATATGTATATATACATATATATATAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01496.hp2 HG02055.hp2 others(9): Show HG00741.hp2 HG01496.hp2 HG02055.hp2 HG02145.hp1 HG02258.hp1 HG02572.hp1 HG02717.hp2 HG03209.hp1 HG03486.hp1 HG03486.hp2 HG03579.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0016 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0002t0010 a0001c0003t0003 a0002c0004t0006	a0001c0001t0001g0023 a0001c0001t0001g0085 a0001c0001t0002g0031 others(9): Show a0001c0001t0001g0023 a0001c0001t0001g0085 a0001c0001t0002g0031 a0001c0001t0002g0038 a0001c0001t0005g0037 a0001c0001t0016g0054 a0001c0001t0021g0015 a0001c0001t0023g0035 a0001c0001t0024g0030 a0001c0002t0010g0059 a0001c0003t0003g0044 a0002c0004t0006g0036	12	90	0.1333	30	c.-19 others(49): Show c.-191+5105_-191+5106insTTATATATATATGTATATATACATAT ATAT	INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	2/25			chr4	TogoVar
INPP4B_chr4_142018160_142851301	142720733	T T	TATATATA others(23): Show TATATATATGTATATATACATATATATATGA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00642.hp2 HG00741.hp1 others(29): Show HG00438.hp1 HG00642.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01106.hp1 HG01106.hp2 HG01261.hp1 HG01346.hp2 HG01496.hp1 HG01516.hp2 HG02015.hp2 HG02280.hp2 HG02523.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG03017.hp2 HG03041.hp2 HG03654.hp2 HG03831.hp1 NA18522.hp1 NA18522.hp2 NA19005.hp1 NA19070.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0012 a0001c0014 a0002c0004 a0003c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(26): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0026 a0001c0002t0002 a0001c0002t0007 a0001c0002t0010 a0001c0002t0012 a0001c0003t0003 a0001c0003t0005 a0001c0005t0001 a0001c0005t0007 a0001c0006t0003 a0001c0006t0007 a0001c0007t0005 a0001c0009t0001 a0001c0012t0007 a0001c0014t0020 a0002c0004t0001 a0002c0004t0006 a0003c0008t0003	a0001c0001t0001g0024 a0001c0001t0003g0073 a0001c0001t0004g0086 others(29): Show a0001c0001t0001g0024 a0001c0001t0003g0073 a0001c0001t0004g0086 a0001c0001t0005g0027 a0001c0001t0005g0084 a0001c0001t0006g0042 a0001c0001t0009g0055 a0001c0001t0012g0061 a0001c0001t0013g0074 a0001c0001t0014g0076 a0001c0001t0014g0078 a0001c0001t0015g0025 a0001c0001t0019g0064 a0001c0001t0026g0067 a0001c0002t0002g0050 a0001c0002t0007g0079 a0001c0002t0010g0060 a0001c0002t0012g0080 a0001c0003t0003g0071 a0001c0003t0005g0065 a0001c0005t0001g0026 a0001c0005t0001g0070 a0001c0005t0007g0029 a0001c0006t0003g0083 a0001c0006t0007g0081 a0001c0007t0005g0075 a0001c0009t0001g0072 a0001c0012t0007g0082 a0001c0014t0020g0077 a0002c0004t0001g0062 a0002c0004t0006g0066 a0003c0008t0003g0068	32	90	0.3556	30	c.-19 others(49): Show c.-191+5105_-191+5106insTCATATATATATGTATATATACATAT ATAT	INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	2/25			chr4	TogoVar
INPP5B_chr1_37855697_37952053	37917308	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG03471.hp1 NA18747.hp2 others(3): Show HG00738.hp1 HG03471.hp1 NA18747.hp2 NA18943.hp2 NA18975.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0025 a0001c0001t0001 a0001c0001t0025	a0001c0001t0001g0103 a0001c0001t0001g0141 a0001c0001t0001g0142 others(3): Show a0001c0001t0001g0103 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0174 a0001c0001t0025g0296	6	346	0.0173	30	c.532 others(49): Show c.532+14575_532+14604dupTATATATATATATATATATATATATA TATA	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	7/23			chr1	TogoVar
INPP5B_chr1_37855697_37952053	37941958	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	346	0.0029	30	c.281 others(47): Show c.281-1161_281-1160insATATATATATATATTTTTTTTTTTTTTT TT	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23			chr1	TogoVar
INPP5B_chr1_37855697_37952053	37941958	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0278 a0002c0003t0002g0278	1	346	0.0029	30	c.281 others(47): Show c.281-1161_281-1160insATATATATATATATATTTTTTTTTTTTT TT	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23			chr1	TogoVar
INPP5B_chr1_37855697_37952053	37941958	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18946.hp1 NA18970.hp1 HG02135.hp1 NA18946.hp1 NA18970.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0003 a0002c0003t0002 a0002c0002t0003 a0002c0003t0002	a0002c0002t0003g0336 a0002c0003t0002g0269 a0002c0003t0002g0270 a0002c0002t0003g0336 a0002c0003t0002g0269 a0002c0003t0002g0270	3	346	0.0087	30	c.281 others(47): Show c.281-1161_281-1160insATATATATATATATATATTTTTTTTTTT TT	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23			chr1	TogoVar
INPP5B_chr1_37855697_37952053	37941958	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01256.hp2 HG03834.hp2 others(2): Show HG01109.hp2 HG01256.hp2 HG03834.hp2 HG03942.hp1 NA18951.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0003 a0002c0003t0014 a0002c0003t0002 a0002c0003t0003 a0002c0003t0014	a0002c0003t0002g0256 a0002c0003t0002g0257 a0002c0003t0002g0258 others(2): Show a0002c0003t0002g0256 a0002c0003t0002g0257 a0002c0003t0002g0258 a0002c0003t0003g0060 a0002c0003t0014g0259	5	346	0.0145	30	c.281 others(47): Show c.281-1161_281-1160insATATATATATATATATATATTTTTTTTT TT	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23			chr1	TogoVar
INPP5B_chr1_37855697_37952053	37941958	A A	AAAAAAAA others(23): Show AAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19058.hp1 NA19056.hp2 NA19058.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0054 a0002c0003t0003g0055 a0002c0003t0003g0054 a0002c0003t0003g0055	2	346	0.0058	30	c.281 others(47): Show c.281-1161_281-1160insATATATATATATATATATATATTTTTTT TT	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23			chr1	TogoVar
INPP5D_chr2_233055342_233212903	233116248	G G	GATAGATA others(23): Show GATAGATATAGATATAGATATAGATATAGAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03195.hp1 NA19043.hp1 HG03139.hp1 HG03195.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0011 a0001c0001t0006 a0001c0001t0011	a0001c0001t0006g0272 a0001c0001t0006g0273 a0001c0001t0011g0062 a0001c0001t0006g0272 a0001c0001t0006g0273 a0001c0001t0011g0062	3	310	0.0097	30	c.199 others(47): Show c.199-5849_199-5820dupGATATAGATATAGATATAGATATAGATA TA	INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
INPP5F_chr10_119721050_119834147	119785286	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0268 a0002c0002t0002g0268	1	328	0.0031	30	c.315 others(47): Show c.315+3531_315+3532insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	INPP5F	ENSG00000198825.15	transcript	ENST00000650623.2	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
INSC_chr11_15109923_15252208	15113143	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	270	0.0037	30	c.-19 others(41): Show c.-1906_-1905insTCTTTCTTTCTTTCTTTCTTTCTCTCTCTC	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding		1779		chr11	TogoVar
INSC_chr11_15109923_15252208	15113143	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG04115.hp1 NA18987.hp1 HG02922.hp1 HG04115.hp1 NA18987.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0002t0003 a0002c0004t0001 a0001c0001t0001 a0001c0002t0003 a0002c0004t0001	a0001c0001t0001g0180 a0001c0002t0003g0081 a0002c0004t0001g0045 a0001c0001t0001g0180 a0001c0002t0003g0081 a0002c0004t0001g0045	3	270	0.0111	30	c.-19 others(41): Show c.-1906_-1905insTCTTTCTTTCTTTCTTTCTTTCTTTCTCTC	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding		1779		chr11	TogoVar
INSC_chr11_15109923_15252208	15116847	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTCTC	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0002 a0001c0016t0002	a0001c0016t0002g0161 a0001c0016t0002g0161	1	270	0.0037	30	c.-46 others(47): Show c.-46+1847_-46+1848insTTCTTTCTTTCTTTCTTTCTTTCTCTCT CT	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
INSC_chr11_15109923_15252208	15247733	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG03516.hp2 HG02965.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	2	270	0.0074	30	c.16 others(41): Show c.1693_*1694insTATATATATATATATATATATATATATATA	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding		526		chr11	TogoVar
INSM2_chr14_35529164_35542054	35541040	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 NA18998.hp1 HG02735.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	402	0.0050	30	c.50 others(41): Show c.5087_*5088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	INSM2	ENSG00000168348.4	transcript	ENST00000307169.4	protein_coding		3987		chr14	TogoVar

Search by Variant

Search

Search Results