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
IPMK_chr10_58186517_58272894	58197326	A A	AATAAATA others(21): Show AATAAATAAATAAATAAATACATACATAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02486.hp1 HG01891.hp1 HG02486.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0008 a0003c0008t0002 a0001c0001t0008 a0003c0008t0002	a0001c0001t0008g0276 a0003c0008t0002g0274 a0001c0001t0008g0276 a0003c0008t0002g0274	2	346	0.0058	28	c.629 others(43): Show c.629-629_629-628insGTATGTATGTATTTATTTATTTATTTAT	IPMK	ENSG00000151151.6	transcript	ENST00000373935.4	protein_coding	5/5			chr10	TogoVar
IPMK_chr10_58186517_58272894	58197326	A A	AATAAATA others(21): Show AATAAATAAATAAATACATACATACATAC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03579.hp2 HG03130.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0277 a0001c0001t0008g0278 a0001c0001t0008g0277 a0001c0001t0008g0278	2	346	0.0058	28	c.629 others(43): Show c.629-629_629-628insGTATGTATGTATGTATTTATTTATTTAT	IPMK	ENSG00000151151.6	transcript	ENST00000373935.4	protein_coding	5/5			chr10	TogoVar
IPMK_chr10_58186517_58272894	58197326	A A	AATAAATA others(21): Show AATAAATAAATACATACATACATACATAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01070.hp2 HG01071.hp1 others(18): Show HG00642.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01167.hp1 HG01255.hp2 HG01261.hp1 HG01346.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02698.hp2 HG02723.hp1 HG02896.hp1 HG03041.hp1 HG03453.hp1 HG03540.hp2 HG03927.hp2 NA18522.hp1 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0022 a0001c0001t0004 a0001c0001t0006 a0001c0001t0022	a0001c0001t0004g0279 a0001c0001t0004g0281 a0001c0001t0004g0282 others(18): Show a0001c0001t0004g0279 a0001c0001t0004g0281 a0001c0001t0004g0282 a0001c0001t0004g0288 a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0292 a0001c0001t0004g0293 a0001c0001t0004g0296 a0001c0001t0004g0297 a0001c0001t0006g0156 a0001c0001t0006g0272 a0001c0001t0006g0273 a0001c0001t0006g0283 a0001c0001t0006g0284 a0001c0001t0006g0285 a0001c0001t0006g0286 a0001c0001t0006g0287 a0001c0001t0006g0294 a0001c0001t0022g0289 a0001c0001t0022g0295	21	346	0.0607	28	c.629 others(43): Show c.629-629_629-628insGTATGTATGTATGTATGTATTTATTTAT	IPMK	ENSG00000151151.6	transcript	ENST00000373935.4	protein_coding	5/5			chr10	TogoVar
IPO11_chr5_62407763_62633582	62435210	G G	GTATATAT others(21): Show GTATATATATGTATATATATGTACATATA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	330	0.0030	28	c.-6- others(43): Show c.-6-2063_-6-2062insATATATATGTATATATATGTACATATAT	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
IPO11_chr5_62407763_62633582	62435210	G G	GTATATAT others(21): Show GTATATATATGTATATATATGTATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01255.hp1 HG01257.hp2 others(30): Show HG01069.hp1 HG01255.hp1 HG01257.hp2 HG01433.hp1 HG01496.hp1 HG01934.hp2 HG02015.hp1 HG02040.hp1 HG02083.hp1 HG02129.hp1 HG02155.hp2 HG02257.hp1 HG02293.hp1 HG02922.hp2 NA18612.hp2 NA18947.hp1 NA18952.hp2 NA18954.hp2 NA18957.hp1 NA18979.hp1 NA18981.hp2 NA18983.hp2 NA18989.hp2 NA18990.hp2 NA18993.hp2 NA18995.hp2 NA19003.hp1 NA19063.hp1 NA19074.hp2 NA19081.hp2 NA19086.hp1 NA19088.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0054 a0001c0001t0001g0103 a0001c0001t0001g0104 others(30): Show a0001c0001t0001g0054 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0132 a0001c0001t0002g0142 a0001c0001t0002g0152 a0001c0001t0002g0156	33	330	0.1000	28	c.-6- others(43): Show c.-6-2063_-6-2062insATATATATGTATATATATGTATATATAT	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
IPO11_chr5_62407763_62633582	62598492	C C	CTCTTTCT others(21): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0318 a0001c0001t0001g0318	1	330	0.0030	28	c.267 others(47): Show c.2679-3262_2679-3235dupCTTTCTTTCTTTCTTTCTTTCTTTCT TT	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	28/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
IPO5_chr13_97948675_98029296	98010780	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG01168.hp1 others(4): Show HG00438.hp2 HG00558.hp1 HG01168.hp1 HG02040.hp2 HG02129.hp2 NA18952.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0002t0003g0028 others(4): Show a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0002t0003g0028 a0001c0002t0003g0047 a0001c0002t0003g0050 a0001c0002t0003g0059 a0001c0002t0003g0069	7	380	0.0184	28	c.205 others(45): Show c.2055+574_2055+575insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	IPO5	ENSG00000065150.21	transcript	ENST00000651721.2	protein_coding	20/28		INFO_REALIGN_3_PRIME	chr13	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0191 a0001c0001t0002g0191	1	314	0.0032	28	c.85- others(43): Show c.85-5948_85-5947insAAAAAAAAAAAAAATATATATATATATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA19083.hp2 HG02055.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0200 a0001c0001t0002g0243 a0001c0001t0002g0200 a0001c0001t0002g0243	2	314	0.0064	28	c.85- others(43): Show c.85-5948_85-5947insAAAAAAAAAAAATATATATATATATATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(21): Show AAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0132 a0001c0001t0003g0132	1	314	0.0032	28	c.85- others(43): Show c.85-5948_85-5947insAAAAAAAAAATATATATATATATATATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(21): Show AAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0284 a0001c0001t0004g0284	1	314	0.0032	28	c.85- others(43): Show c.85-5948_85-5947insAAAAAAAATATATATATATATATATATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(21): Show AAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	314	0.0032	28	c.85- others(43): Show c.85-5948_85-5947insAAAAAATATATATATATATATATATATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAATA others(21): Show AAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	314	0.0032	28	c.85- others(43): Show c.85-5948_85-5947insAAAATATATATATATATATATATATATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397361	T T	TATATATA others(21): Show TATATATATATATATATATATATATATTA	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA19001.hp1 NA19082.hp1 NA18969.hp2 NA19001.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0125 a0001c0001t0001g0144 a0001c0001t0001g0062 a0001c0001t0001g0125 a0001c0001t0001g0144	3	314	0.0096	28	c.85- others(43): Show c.85-5925_85-5924insATATATATATATATATATATATTAATAT	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO9_chr1_201824157_201889291	201859180	A A	AATAAATA others(21): Show AATAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03654.hp1 NA18906.hp1 others(2): Show HG02809.hp2 HG03654.hp1 NA18906.hp1 NA18991.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0024 a0001c0001t0103 others(1): Show a0001c0001t0001 a0001c0001t0024 a0001c0001t0103 a0001c0003t0052	a0001c0001t0001g0193 a0001c0001t0024g0038 a0001c0001t0024g0039 others(2): Show a0001c0001t0001g0193 a0001c0001t0024g0038 a0001c0001t0024g0039 a0001c0001t0103g0125 a0001c0003t0052g0145	5	396	0.0126	28	c.146 others(45): Show c.1468+189_1468+190insAATATATATATATATATATATATATATA	IPO9	ENSG00000198700.10	transcript	ENST00000361565.9	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
IQANK1_chr8_143729139_143795645	143747966	T T	TCCTTTCC others(21): Show TCCTTTCCTTTCCTTTCCCTTTCCCTTTC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0001	a0009c0009t0001g0007 a0009c0009t0001g0007	1	349	0.0029	28	c.175 others(45): Show c.175+8025_175+8026insTTTCCTTTCCCTTTCCCTTTCCCTTTCC	IQANK1	ENSG00000203499.12	transcript	ENST00000527139.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
IQANK1_chr8_143729139_143795645	143751660	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0039 a0001c0010t0001g0039	1	349	0.0029	28	c.175 others(47): Show c.175+11713_175+11714insATATATATATATATATATATATATAT AT	IQANK1	ENSG00000203499.12	transcript	ENST00000527139.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
IQANK1_chr8_143729139_143795645	143751662	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	349	0.0029	28	c.175 others(47): Show c.175+11715_175+11716insATATATATATATATATATATATATAT AT	IQANK1	ENSG00000203499.12	transcript	ENST00000527139.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
IQANK1_chr8_143729139_143795645	143751664	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01361.hp1 NA18955.hp1 NA18983.hp2 others(1): Show HG01361.hp1 NA18955.hp1 NA18983.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0129 a0001c0001t0001g0130 others(1): Show a0001c0001t0001g0048 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0204	4	349	0.0115	28	c.175 others(47): Show c.175+11730_175+11731insTATATATATATATATATATATATATA TA	IQANK1	ENSG00000203499.12	transcript	ENST00000527139.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
IQANK1_chr8_143729139_143795645	143751664	G G	GTGTATAT others(21): Show GTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	349	0.0029	28	c.175 others(47): Show c.175+11717_175+11718insGTATATATATATATATATATATATAT AT	IQANK1	ENSG00000203499.12	transcript	ENST00000527139.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
IQCA1L_chr7_151185873_151210496	151206719	A A	AAGATAGA others(21): Show AAGATAGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG02630.hp1 HG02965.hp1 others(5): Show HG00438.hp2 HG02630.hp1 HG02965.hp1 HG02976.hp2 HG03669.hp2 HG04184.hp1 NA18974.hp2 NA21309.hp1	a0002 a0003 a0005 others(2): Show a0002 a0003 a0005 a0008 a0009	a0002c0024 a0002c0036 a0003c0020 others(3): Show a0002c0024 a0002c0036 a0003c0020 a0005c0005 a0008c0043 a0009c0011	a0002c0024t0001 a0002c0036t0001 a0003c0020t0001 others(3): Show a0002c0024t0001 a0002c0036t0001 a0003c0020t0001 a0005c0005t0001 a0008c0043t0001 a0009c0011t0001	a0002c0024t0001g0276 a0002c0036t0001g0177 a0003c0020t0001g0011 others(3): Show a0002c0024t0001g0276 a0002c0036t0001g0177 a0003c0020t0001g0011 a0005c0005t0001g0006 a0008c0043t0001g0240 a0009c0011t0001g0004	8	448	0.0179	28	c.-12 others(39): Show c.-1266_-1265insATCTATCTATCTATCTATCTATCTATCT	IQCA1L	ENSG00000278685.4	transcript	ENST00000615129.4	protein_coding		1224		chr7	TogoVar
IQCA1_chr2_236319151_236512476	236347508	C C	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG03704.hp2 others(3): Show HG02895.hp1 HG02897.hp2 HG03704.hp2 NA18978.hp2 NA19002.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0012	a0001c0001 a0002c0008 a0003c0003 others(1): Show a0001c0001 a0002c0008 a0003c0003 a0012c0016	a0001c0001t0001 a0001c0001t0003 a0002c0008t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0002c0008t0001 a0003c0003t0003 a0012c0016t0001	a0001c0001t0001g0143 a0001c0001t0003g0010 a0002c0008t0001g0054 others(3): Show a0001c0001t0001g0143 a0001c0001t0003g0010 a0002c0008t0001g0054 a0002c0008t0001g0055 a0003c0003t0003g0004 a0012c0016t0001g0051	6	208	0.0289	28	c.187 others(47): Show c.1870-2866_1870-2865insTATATATATATATATATATATATATA TA	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	15/18			chr2	TogoVar
IQCA1_chr2_236319151_236512476	236347508	C C	CTCTATAT others(21): Show CTCTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02647.hp1 HG00280.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0010 a0001c0004t0002 a0001c0001t0010 a0001c0004t0002	a0001c0001t0010g0017 a0001c0004t0002g0077 a0001c0001t0010g0017 a0001c0004t0002g0077	2	208	0.0096	28	c.187 others(47): Show c.1870-2866_1870-2865insTATATATATATATATATATATATATA GA	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	15/18			chr2	TogoVar
IQCA1_chr2_236319151_236512476	236357029	A A	ATATATTC others(21): Show ATATATTCATATATTATATATCTATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0016 a0001c0001t0007g0016	1	208	0.0048	28	c.186 others(47): Show c.1869+6750_1869+6751insATATATAGATATATAATATATGAATA TA	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	15/18			chr2	TogoVar
IQCA1_chr2_236319151_236512476	236459498	T T	TATGTATA others(21): Show TATGTATACGTATACGTATACATGTATAC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0153 a0002c0002t0001g0153	1	208	0.0048	28	c.926 others(45): Show c.926+5979_926+6006dupGTATACATGTATACGTATACGTATACAT	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	6/18			chr2	TogoVar
IQCA1_chr2_236319151_236512476	236459632	T T	TATACGTA others(21): Show TATACGTATATACGTATATATGTATATAC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	208	0.0048	28	c.926 others(45): Show c.926+5845_926+5872dupGTATATACATATATACGTATATACGTAT	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	6/18			chr2	TogoVar
IQCA1_chr2_236319151_236512476	236459636	C C	CGTATATA others(21): Show CGTATATACGTATATATGTATATACATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0009 a0002c0025t0009	a0002c0025t0009g0178 a0002c0025t0009g0178	1	208	0.0048	28	c.926 others(45): Show c.926+5868_926+5869insATATGTATATACATATATACGTATATAC	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	6/18			chr2	TogoVar
IQCE_chr7_2553979_2619728	2615295	A A	ATATATGT others(21): Show ATATATGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA18944.hp1 NA18971.hp2 others(2): Show NA18747.hp1 NA18944.hp1 NA18971.hp2 NA18990.hp1 NA19087.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0293 a0002c0002t0003g0322 a0002c0002t0003g0355 others(2): Show a0002c0002t0003g0293 a0002c0002t0003g0322 a0002c0002t0003g0355 a0002c0002t0003g0363 a0002c0002t0003g0402	5	416	0.0120	28	c.51 others(39): Show c.5133_*5134insTATATGTGTGTGTGTGTGTGTGTGTGTG	IQCE	ENSG00000106012.19	transcript	ENST00000402050.7	protein_coding		568		chr7	TogoVar
IQCJ_chr3_159064319_159268747	159200030	C C	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03540.hp2 HG02451.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0244 a0001c0001t0001g0216 a0001c0001t0001g0244	2	252	0.0079	28	c.10- others(45): Show c.10-45795_10-45794insTATATATATATATATATATATATATATA	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCJ_chr3_159064319_159268747	159200104	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01891.hp2 HG01934.hp2 others(6): Show HG01255.hp2 HG01891.hp2 HG01934.hp2 HG02040.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02622.hp1 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0017 a0001c0001t0002g0059 a0001c0001t0002g0060 others(6): Show a0001c0001t0002g0017 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0108 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0166 a0001c0001t0002g0233 a0001c0001t0010g0026	9	252	0.0357	28	c.10- others(45): Show c.10-45723_10-45722insATATATATATATATATATATATATATAT	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCM_chr4_149346709_149820843	149347116	G G	GAGGAAGG others(21): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0139 a0003c0005t0001g0139	1	252	0.0040	28	c.48 others(39): Show c.4834_*4835insTCCTTCCTTCCTTCCTTCCTTCCTTCCT	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding		4592		chr4	TogoVar
IQCM_chr4_149346709_149820843	149347116	G G	GAGGGAGG others(21): Show GAGGGAGGAAGGAAGGAAGGAAGGAAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	252	0.0040	28	c.48 others(39): Show c.4834_*4835insTCCTTCCTTCCTTCCTTCCTTCCTCCCT	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding		4592		chr4	TogoVar
IQCM_chr4_149346709_149820843	149368743	T T	TATATATA others(21): Show TATATATATACATGTATATATATATATAC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	252	0.0040	28	c.139 others(49): Show c.1391-16705_1391-16678dupGTATATATATATATACATGTATAT ATAT	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	13/13			chr4	TogoVar
IQCM_chr4_149346709_149820843	149368755	T T	TGTATATA others(21): Show TGTATATATATATATACATATATATACAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 homoSapiens_chm13v2.hp1 HG00642.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0156 a0001c0001t0001g0147 a0001c0001t0001g0156	2	252	0.0079	28	c.139 others(49): Show c.1391-16690_1391-16689insGTGTATATATATGTATATATATAT ATAC	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	13/13			chr4	TogoVar
IQCM_chr4_149346709_149820843	149368888	A A	ATGTATAT others(21): Show ATGTATATATATACACGTGTATATATATG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03209.hp2 NA18978.hp2 HG02055.hp1 HG03209.hp2 NA18978.hp2	a0001 a0004 a0001 a0004	a0001c0004 a0004c0007 a0001c0004 a0004c0007	a0001c0004t0001 a0004c0007t0001 a0001c0004t0001 a0004c0007t0001	a0001c0004t0001g0194 a0001c0004t0001g0225 a0004c0007t0001g0048 a0001c0004t0001g0194 a0001c0004t0001g0225 a0004c0007t0001g0048	3	252	0.0119	28	c.139 others(49): Show c.1391-16850_1391-16823dupCATATATATACACGTGTATATATA TACA	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	13/13			chr4	TogoVar
IQCM_chr4_149346709_149820843	149449370	A A	ATTATATA others(21): Show ATTATATATTATATATATAATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0248 a0001c0001t0002g0248	1	252	0.0040	28	c.122 others(49): Show c.1229-15841_1229-15814dupATATATATATTATATATATAATAT ATAA	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	12/13			chr4	TogoVar
IQCM_chr4_149346709_149820843	149619131	T T	TATATATA others(21): Show TATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	252	0.0040	28	c.681 others(45): Show c.681+1997_681+1998insGTGTATATATATATATATATATATATAT	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	8/13			chr4	TogoVar
IQCM_chr4_149346709_149820843	149626392	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00642.hp1 HG00738.hp2 others(14): Show HG00558.hp1 HG00642.hp1 HG00738.hp2 HG01081.hp1 HG01255.hp1 HG01993.hp1 HG01993.hp2 HG02738.hp1 HG02818.hp1 HG03453.hp1 HG04184.hp1 NA18965.hp2 NA18979.hp1 NA18984.hp2 NA18989.hp1 NA18993.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0081 a0001c0001t0001g0091 others(14): Show a0001c0001t0001g0003 a0001c0001t0001g0081 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0098 a0001c0001t0001g0122 a0001c0001t0001g0141 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0240 a0001c0001t0002g0001 a0001c0001t0002g0080 a0001c0001t0004g0252 a0001c0002t0001g0030 a0001c0002t0001g0032 a0001c0002t0001g0067 a0001c0002t0001g0118	17	252	0.0675	28	c.566 others(45): Show c.566-5149_566-5148insATATATATATATATATATATATATATAT	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	7/13			chr4	TogoVar
IQGAP2_chr5_76398285_76713132	76429582	T T	TTATATAT others(21): Show TTATATATATATATATATATATATTTATA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03579.hp1 HG02647.hp1 HG03579.hp1	a0013 a0018 a0013 a0018	a0013c0019 a0018c0020 a0013c0019 a0018c0020	a0013c0019t0001 a0018c0020t0001 a0013c0019t0001 a0018c0020t0001	a0013c0019t0001g0217 a0018c0020t0001g0214 a0013c0019t0001g0217 a0018c0020t0001g0214	2	222	0.0090	28	c.46+ others(45): Show c.46+26006_46+26007insATATATATTTATATATATATATATATAT	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
IQGAP2_chr5_76398285_76713132	76610050	T T	TTCTCTCT others(21): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0122 a0001c0009t0001g0122	1	222	0.0045	28	c.135 others(45): Show c.1358-943_1358-942insCTCTCTCTCTCTCTCTCTCTCTCTCTCT	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	12/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
IQGAP2_chr5_76398285_76713132	76610076	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0029 a0029	a0029c0028 a0029c0028	a0029c0028t0010 a0029c0028t0010	a0029c0028t0010g0066 a0029c0028t0010g0066	1	222	0.0045	28	c.135 others(45): Show c.1358-943_1358-942insCTCTCTCTCTCTCTCTCTCTCTATATAT	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	12/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
IQGAP2_chr5_76398285_76713132	76644295	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 NA18979.hp1 HG01106.hp1 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0005 a0001c0003t0001 a0001c0002t0005 a0001c0003t0001	a0001c0002t0005g0052 a0001c0003t0001g0173 a0001c0002t0005g0052 a0001c0003t0001g0173	2	222	0.0090	28	c.209 others(47): Show c.2094+3214_2094+3215insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	17/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
IQGAP2_chr5_76398285_76713132	76667877	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA18522.hp1 HG02280.hp1 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0004 a0002c0001t0001 a0001c0002t0004 a0002c0001t0001	a0001c0002t0004g0219 a0002c0001t0001g0105 a0001c0002t0004g0219 a0002c0001t0001g0105	2	222	0.0090	28	c.268 others(45): Show c.2680-781_2680-780insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	22/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
IQSEC3_chr12_61767_183455	163376	C C	CCACAGAA others(21): Show CCACAGAACTGGACCCCTCCCTGTCCCCT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0169 a0001c0003t0002g0169	1	282	0.0036	28	c.258 others(45): Show c.2584-110_2584-109insTGGACCCCTCCCTGTCCCCTCACAGAAC	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IRAG1_chr11_10568095_10698755	10622876	G G	GACACACA others(21): Show GACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02486.hp1 NA18973.hp1 others(5): Show HG01257.hp1 HG02486.hp1 NA18973.hp1 NA18992.hp2 NA19000.hp2 NA19065.hp1 NA19089.hp2 homoSapiens_chm13v2.hp1	a0001 a0011 a0027 a0001 a0011 a0027	a0001c0002 a0011c0032 a0027c0035 a0001c0002 a0011c0032 a0027c0035	a0001c0002t0002 a0001c0002t0003 a0011c0032t0014 others(1): Show a0001c0002t0002 a0001c0002t0003 a0011c0032t0014 a0027c0035t0002	a0001c0002t0002g0175 a0001c0002t0002g0200 a0001c0002t0002g0213 others(5): Show a0001c0002t0002g0175 a0001c0002t0002g0200 a0001c0002t0002g0213 a0001c0002t0002g0253 a0001c0002t0002g0256 a0001c0002t0003g0190 a0011c0032t0014g0260 a0027c0035t0002g0212	8	278	0.0288	28	c.144 others(45): Show c.1447+901_1447+902insGTGTGTGTGTGTGTGTGTGTGTGTGTGT	IRAG1	ENSG00000072952.21	transcript	ENST00000423302.7	protein_coding	10/20			chr11	TogoVar
IRAG1_chr11_10568095_10698755	10680340	G G	GGAAAGAA others(21): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0025 a0025	a0025c0039 a0025c0039	a0025c0039t0004 a0025c0039t0004	a0025c0039t0004g0233 a0025c0039t0004g0233	1	278	0.0036	28	c.67+ others(45): Show c.67+13195_67+13196insTTTCTTTCTTTCTTTCTTTCTTTCTTTC	IRAG1	ENSG00000072952.21	transcript	ENST00000423302.7	protein_coding	1/20			chr11	TogoVar
IRAG1_chr11_10568095_10698755	10680344	G G	GGAAGGAA others(21): Show GGAAGGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0010 a0006c0010t0010	a0006c0010t0010g0247 a0006c0010t0010g0247	1	278	0.0036	28	c.67+ others(45): Show c.67+13191_67+13192insTTTCTTTCTTTCTTTCTTTCTTTCCTTC	IRAG1	ENSG00000072952.21	transcript	ENST00000423302.7	protein_coding	1/20			chr11	TogoVar
IRAG1_chr11_10568095_10698755	10680368	A A	AGAAAGAA others(21): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	HG04228.hp2 NA18944.hp1 HG04228.hp2 NA18944.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0002 a0001c0005t0006 a0001c0002t0002 a0001c0005t0006	a0001c0002t0002g0205 a0001c0005t0006g0164 a0001c0002t0002g0205 a0001c0005t0006g0164	2	278	0.0072	28	c.67+ others(45): Show c.67+13167_67+13168insCTTCTTTCTTTCTTTCTTTCTTTCTTTC	IRAG1	ENSG00000072952.21	transcript	ENST00000423302.7	protein_coding	1/20			chr11	TogoVar
IRAG1_chr11_10568095_10698755	10680368	A A	AGAAAGAA others(21): Show AGAAAGAAAGAAAGAAAGAAAGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02523.hp2 HG02735.hp2 others(5): Show HG01928.hp2 HG02523.hp2 HG02735.hp2 NA18612.hp2 NA18962.hp1 NA19054.hp2 NA19056.hp1 NA19065.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0013 a0001c0001 a0001c0002 a0002c0013	a0001c0001t0001 a0001c0002t0002 a0002c0013t0003 a0001c0001t0001 a0001c0002t0002 a0002c0013t0003	a0001c0001t0001g0166 a0001c0002t0002g0094 a0001c0002t0002g0174 others(5): Show a0001c0001t0001g0166 a0001c0002t0002g0094 a0001c0002t0002g0174 a0001c0002t0002g0175 a0001c0002t0002g0193 a0001c0002t0002g0197 a0001c0002t0002g0203 a0002c0013t0003g0020	8	278	0.0288	28	c.67+ others(45): Show c.67+13167_67+13168insCTTCCTTCTTTCTTTCTTTCTTTCTTTC	IRAG1	ENSG00000072952.21	transcript	ENST00000423302.7	protein_coding	1/20			chr11	TogoVar
IRAG1_chr11_10568095_10698755	10680368	A A	AGAAAGAA others(21): Show AGAAAGAAAGAAAGAAAGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	278	0.0036	28	c.67+ others(45): Show c.67+13167_67+13168insCTTCCTTCCTTCTTTCTTTCTTTCTTTC	IRAG1	ENSG00000072952.21	transcript	ENST00000423302.7	protein_coding	1/20			chr11	TogoVar

Search by Variant

Search

Search Results