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	58197322	A A	AATAAATA others(33): Show AATAAATAAATAAATAAATAAATAAATAAATACATACATAC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0158 a0002c0002t0002g0158	1	211	0.0047	40	c.629 others(55): Show c.629-625_629-624insGTATGTATGTATTTATTTATTTATTTATTT ATTTATTTAT	IPMK	ENSG00000151151.6	transcript	ENST00000373935.4	protein_coding	5/5			chr10	TogoVar
IPMK_chr10_58186517_58272894	58197322	A A	AATAAATA others(33): Show AATAAATAAATAAATAAATAAATAAATACATACATACATAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp1 HG00673.hp1 others(16): Show HG00423.hp2 HG00609.hp1 HG00673.hp1 HG03017.hp2 HG03486.hp1 NA18946.hp2 NA18952.hp1 NA18962.hp2 NA18975.hp2 NA18977.hp1 NA18985.hp1 NA18988.hp1 NA19054.hp1 NA19057.hp2 NA19058.hp2 NA19079.hp1 NA19080.hp1 NA19088.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0011 a0001c0001t0002g0155 a0001c0001t0002g0221 others(15): Show a0001c0001t0002g0011 a0001c0001t0002g0155 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0240 a0001c0001t0003g0151 a0001c0001t0003g0302	19	229	0.0830	40	c.629 others(55): Show c.629-625_629-624insGTATGTATGTATGTATTTATTTATTTATTT ATTTATTTAT	IPMK	ENSG00000151151.6	transcript	ENST00000373935.4	protein_coding	5/5			chr10	TogoVar
IPMK_chr10_58186517_58272894	58197322	A A	AATAAATA others(33): Show AATAAATAAATAAATAAATAAATACATACATACATACATAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02886.hp1 HG02717.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0148 a0001c0001t0003g0149	2	212	0.0094	40	c.629 others(55): Show c.629-625_629-624insGTATGTATGTATGTATGTATTTATTTATTT ATTTATTTAT	IPMK	ENSG00000151151.6	transcript	ENST00000373935.4	protein_coding	5/5			chr10	TogoVar
IPO11_chr5_62407763_62633582	62435092	G G	GTGTATAT others(33): Show GTGTATATATGTATATATGTATATATATGTATATATATGTA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	325	0.0031	40	c.-6- others(55): Show c.-6-2181_-6-2180insGTATATATGTATATATGTATATATATGTAT ATATATGTAT	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
IPO11_chr5_62407763_62633582	62435110	G G	GTATATAT others(33): Show GTATATATATGTATATATATGTATATGTATGTATATATGTA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02630.hp2 NA18950.hp2 others(3): Show HG01167.hp1 HG02630.hp2 NA18950.hp2 NA18970.hp2 NA18971.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0095 a0001c0001t0001g0099 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0122 a0001c0001t0001g0136 a0001c0001t0001g0150	6	249	0.0241	40	c.-6- others(55): Show c.-6-2157_-6-2156insATGTATATATATGTATATGTATGTATATAT GTATATATAT	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
IPO11_chr5_62407763_62633582	62435144	G G	GTATATAT others(33): Show GTATATATATGTATATATATGTATATATATGTATATATGTA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02559.hp1 HG01167.hp2 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0233 a0001c0002t0001g0235 a0001c0002t0001g0233 a0001c0002t0001g0235	2	249	0.0080	40	c.-6- others(55): Show c.-6-2123_-6-2122insATGTATATATATGTATATATATGTATATAT GTATATATAT	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(33): Show GTATATATATGTGTATATATATGTATATATATGTATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00642.hp2 HG00738.hp2 others(41): Show HG00621.hp2 HG00642.hp2 HG00738.hp2 HG01081.hp2 HG01106.hp2 HG01168.hp2 HG01261.hp2 HG01952.hp1 HG01981.hp1 HG02074.hp1 HG02135.hp2 HG02615.hp2 HG02683.hp2 HG02738.hp1 HG02809.hp1 HG03017.hp1 HG03209.hp1 HG03831.hp2 HG03834.hp2 HG04199.hp2 NA18941.hp2 NA18942.hp2 NA18952.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp2 NA18966.hp1 NA18968.hp2 NA18972.hp2 NA18979.hp2 NA18982.hp2 NA18985.hp2 NA18993.hp1 NA19005.hp2 NA19009.hp2 NA19012.hp2 NA19062.hp2 NA19064.hp1 NA19066.hp2 NA19070.hp2 NA19091.hp1 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0009 a0001c0008t0001 a0001c0001t0001 a0001c0001t0009 a0001c0008t0001	a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0154 others(41): Show a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0154 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0324 a0001c0001t0009g0298 a0001c0008t0001g0277	44	223	0.1973	40	c.-6- others(55): Show c.-6-2063_-6-2062insATATATATGTGTATATATATGTATATATAT GTATATATAT	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
IPO11_chr5_62407763_62633582	62435210	G G	GTGTATAT others(33): Show GTGTATATATATGTATATATATGTATATATATGTATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA19030.hp1 HG00735.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0304 a0001c0001t0008g0155 a0001c0001t0001g0304 a0001c0001t0008g0155	2	181	0.0110	40	c.-6- others(55): Show c.-6-2053_-6-2052insGTATATATATGTATATATATGTATATATAT GTATATATAT	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	25	0.0400	40	c.85- others(55): Show c.85-5948_85-5947insAAAAAAAAAAAAAATATATATATATATATA TATATATATA	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(33): Show AAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	25	0.0400	40	c.85- others(55): Show c.85-5948_85-5947insAAAAAAAAAATATATATATATATATATATA TATATATATA	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(33): Show AAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03942.hp1 HG04199.hp2 others(1): Show HG03834.hp1 HG03942.hp1 HG04199.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0111 a0001c0001t0001g0112 others(1): Show a0001c0001t0001g0028 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0174	4	28	0.1429	40	c.85- others(55): Show c.85-5948_85-5947insAAAAAATATATATATATATATATATATATA TATATATATA	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(33): Show AAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	25	0.0400	40	c.85- others(55): Show c.85-5948_85-5947insAAAATATATATATATATATATATATATATA TATATATATA	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(33): Show TATATATATATATATATATATATATATATATATATATATTA	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA19084.hp1 HG02280.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0071 a0001c0001t0003g0269 a0001c0001t0001g0071 a0001c0001t0003g0269	2	145	0.0138	40	c.85- others(55): Show c.85-5925_85-5924insATATATATATATATATATATATATATATAT ATATTAATAT	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9436842	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0297 a0001c0001t0003g0297	1	258	0.0039	40	c.226 others(57): Show c.2268+503_2268+504insATATATATATATATATATATATATATAT ATATATATATAT	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	20/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO9_chr1_201824157_201889291	201859180	A A	AATAAATA others(33): Show AATAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA20129.hp2 NA18945.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0050 a0001c0001t0002 a0001c0001t0050	a0001c0001t0002g0187 a0001c0001t0050g0184 a0001c0001t0002g0187 a0001c0001t0050g0184	2	11	0.1818	40	c.146 others(57): Show c.1468+189_1468+190insAATATATATATATATATATATATATATA TATATATATATA	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(33): Show TCCTTTCCTTTCCTTTCCCTTTCCCTTTCCCTTTCCCTTTC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0012 a0012	a0012c0027 a0012c0027	a0012c0027t0001 a0012c0027t0001	a0012c0027t0001g0016 a0012c0027t0001g0016	1	342	0.0029	40	c.175 others(57): Show c.175+8025_175+8026insTTTCCTTTCCCTTTCCCTTTCCCTTTCC CTTTCCCTTTCC	IQANK1	ENSG00000203499.12	transcript	ENST00000527139.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
IQCA1_chr2_236319151_236512476	236347508	C C	CTATATAT others(33): Show CTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01943.hp1 NA18943.hp2 NA18983.hp1 HG01943.hp1 NA18943.hp2 NA18983.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0006 a0003c0003t0001 a0003c0003t0003 a0001c0001t0006 a0003c0003t0001 a0003c0003t0003	a0001c0001t0006g0200 a0003c0003t0001g0069 a0003c0003t0003g0003 a0001c0001t0006g0200 a0003c0003t0001g0069 a0003c0003t0003g0003	3	122	0.0246	40	c.187 others(59): Show c.1870-2866_1870-2865insTATATATATATATATATATATATATA TATATATATATATA	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	15/18			chr2	TogoVar
IQCA1_chr2_236319151_236512476	236347508	C C	CTCTATAT others(33): Show CTCTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA19030.hp2 HG00642.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0004 a0001c0004t0002 a0001c0001t0004 a0001c0004t0002	a0001c0001t0004g0127 a0001c0004t0002g0147 a0001c0001t0004g0127 a0001c0004t0002g0147	2	121	0.0165	40	c.187 others(59): Show c.1870-2866_1870-2865insTATATATATATATATATATATATATA TATATATATATAGA	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	15/18			chr2	TogoVar
IQCA1_chr2_236319151_236512476	236347508	C C	CTCTCTCT others(33): Show CTCTCTCTCTCTCTCTCTCTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0148 a0001c0004t0002g0148	1	120	0.0083	40	c.187 others(59): Show c.1870-2866_1870-2865insTATATATATATATATATATATAGAGA GAGAGAGAGAGAGA	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	15/18			chr2	TogoVar
IQCA1_chr2_236319151_236512476	236459552	C C	CGTATACA others(33): Show CGTATACATGTATACGTATATATGTGTATACATACGTATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00642.hp1 others(18): Show HG00099.hp1 HG00280.hp1 HG00642.hp1 HG01109.hp2 HG01257.hp2 HG01261.hp2 HG01934.hp1 HG02055.hp1 HG02572.hp1 HG02602.hp2 HG02630.hp2 HG02886.hp1 HG02965.hp2 HG03041.hp1 HG03239.hp1 HG03579.hp2 HG03710.hp1 HG03927.hp1 NA19030.hp2 NA19043.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0022 others(1): Show a0001c0001 a0001c0004 a0001c0022 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0004t0002 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0004t0002 a0001c0022t0008 a0002c0002t0002 a0002c0002t0008	a0001c0001t0001g0164 a0001c0001t0004g0056 a0001c0001t0004g0057 others(18): Show a0001c0001t0001g0164 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0004g0127 a0001c0004t0002g0076 a0001c0004t0002g0084 a0001c0004t0002g0090 a0001c0004t0002g0101 a0001c0004t0002g0116 a0001c0004t0002g0128 a0001c0004t0002g0131 a0001c0004t0002g0133 a0001c0004t0002g0147 a0001c0004t0002g0148 a0001c0004t0002g0149 a0001c0022t0008g0022 a0002c0002t0002g0044 a0002c0002t0002g0172 a0002c0002t0002g0175 a0002c0002t0008g0014 a0002c0002t0008g0015	21	199	0.1055	40	c.926 others(57): Show c.926+5952_926+5953insATATACGTATGTATACACATATATACGT ATACATGTATAC	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	6/18			chr2	TogoVar
IQCB1_chr3_121764761_121840060	121786170	C C	CAAAAGAA others(33): Show CAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA20129.hp1 NA20129.hp2 HG02258.hp2 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0037 a0001c0002t0001g0009 a0001c0002t0001g0037	3	78	0.0385	40	c.127 others(59): Show c.1278+2074_1278+2113dupCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTT	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14			chr3	TogoVar
IQCJ_chr3_159064319_159268747	159200104	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00673.hp1 HG02809.hp2 others(1): Show HG00099.hp1 HG00673.hp1 HG02809.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0014 a0001c0001t0002g0117 a0001c0001t0002g0155 others(1): Show a0001c0001t0002g0014 a0001c0001t0002g0117 a0001c0001t0002g0155 a0001c0001t0004g0074	4	129	0.0310	40	c.10- others(57): Show c.10-45723_10-45722insATATATATATATATATATATATATATAT ATATATATATAT	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCM_chr4_149346709_149820843	149626392	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18980.hp2 NA19083.hp1 NA18962.hp1 NA18980.hp2 NA19083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0069 a0001c0002t0001g0071 a0001c0002t0002g0073 a0001c0002t0001g0069 a0001c0002t0001g0071 a0001c0002t0002g0073	3	102	0.0294	40	c.566 others(57): Show c.566-5149_566-5148insATATATATATATATATATATATATATAT ATATATATATAT	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	7/13			chr4	TogoVar
IQGAP1_chr15_90383242_90507239	90422620	A A	ATATGTAT others(33): Show ATATGTATATATATATGTATATGTATATGTATATATATATG	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0008 a0001c0003t0006g0008	1	324	0.0031	40	c.156 others(57): Show c.156-3487_156-3486insGTATATATATATGTATATGTATATGTAT ATATATATGTAT	IQGAP1	ENSG00000140575.13	transcript	ENST00000268182.10	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr15	TogoVar
IQGAP2_chr5_76398285_76713132	76610050	T T	TTCTCTCT others(33): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0132 a0002c0001t0003g0132	1	147	0.0068	40	c.135 others(57): Show c.1358-943_1358-942insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCT	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	12/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
IRAG1_chr11_10568095_10698755	10680344	G G	GGAAGGAA others(33): Show GGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02895.hp1 HG03471.hp2 HG00741.hp1 HG02895.hp1 HG03471.hp2	a0001 a0009 a0001 a0009	a0001c0005 a0009c0019 a0001c0005 a0009c0019	a0001c0005t0001 a0009c0019t0001 a0001c0005t0001 a0009c0019t0001	a0001c0005t0001g0233 a0001c0005t0001g0239 a0009c0019t0001g0238 a0001c0005t0001g0233 a0001c0005t0001g0239 a0009c0019t0001g0238	3	230	0.0130	40	c.67+ others(57): Show c.67+13191_67+13192insTTTCTTTCTTTCTTTCTTTCTTTCTTTC CTTCCTTCCTTC	IRAG1	ENSG00000072952.21	transcript	ENST00000423302.7	protein_coding	1/20			chr11	TogoVar
IRAG1_chr11_10568095_10698755	10680344	G G	GGAAGGAA others(33): Show GGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0007 a0007	a0007c0027 a0007c0027	a0007c0027t0013 a0007c0027t0013	a0007c0027t0013g0025 a0007c0027t0013g0025	1	228	0.0044	40	c.67+ others(57): Show c.67+13191_67+13192insTTTCTTTCTTTCTTTCTTTCCTTCCTTC CTTCCTTCCTTC	IRAG1	ENSG00000072952.21	transcript	ENST00000423302.7	protein_coding	1/20			chr11	TogoVar
IRAG1_chr11_10568095_10698755	10680368	A A	AGAAAGAA others(33): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0186 a0001c0002t0002g0186	1	167	0.0060	40	c.67+ others(57): Show c.67+13167_67+13168insCTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTC	IRAG1	ENSG00000072952.21	transcript	ENST00000423302.7	protein_coding	1/20			chr11	TogoVar
IRAG1_chr11_10568095_10698755	10680368	A A	AGAAAGAA others(33): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03688.hp1 HG02723.hp2 HG03688.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0012 a0001c0002 a0004c0012	a0001c0002t0002 a0004c0012t0023 a0001c0002t0002 a0004c0012t0023	a0001c0002t0002g0159 a0004c0012t0023g0149 a0001c0002t0002g0159 a0004c0012t0023g0149	2	168	0.0119	40	c.67+ others(57): Show c.67+13167_67+13168insCTTCCTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTC	IRAG1	ENSG00000072952.21	transcript	ENST00000423302.7	protein_coding	1/20			chr11	TogoVar
IRAG1_chr11_10568095_10698755	10680368	A A	AGAAAGAA others(33): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01978.hp1 HG01975.hp2 HG01978.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0001c0002 a0003c0004	a0001c0002t0002 a0003c0004t0008 a0001c0002t0002 a0003c0004t0008	a0001c0002t0002g0269 a0003c0004t0008g0169 a0001c0002t0002g0269 a0003c0004t0008g0169	2	168	0.0119	40	c.67+ others(57): Show c.67+13167_67+13168insCTTCCTTCCTTCCTTCTTTCTTTCTTTC TTTCTTTCTTTC	IRAG1	ENSG00000072952.21	transcript	ENST00000423302.7	protein_coding	1/20			chr11	TogoVar
IREB2_chr15_78433216_78506453	78434342	G G	GCATGTGT others(33): Show GCATGTGTGCGCGTGCGCGCGCGCACGCGCACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00609.hp2 others(8): Show HG00323.hp2 HG00408.hp1 HG00609.hp2 HG01081.hp1 HG01192.hp1 HG01361.hp1 HG04115.hp2 NA18981.hp2 NA19055.hp1 NA19076.hp2 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0023 a0001c0002t0005 a0001c0002t0023	a0001c0002t0005g0004 a0001c0002t0005g0343 a0001c0002t0005g0344 others(8): Show a0001c0002t0005g0004 a0001c0002t0005g0343 a0001c0002t0005g0344 a0001c0002t0005g0345 a0001c0002t0005g0357 a0001c0002t0005g0361 a0001c0002t0005g0362 a0001c0002t0005g0367 a0001c0002t0005g0370 a0001c0002t0005g0371 a0001c0002t0023g0360	11	271	0.0406	40	c.-39 others(51): Show c.-3996_-3995insCATGTGTGCGCGTGCGCGCGCGCACGCGCACACA CACACA	IREB2	ENSG00000136381.13	transcript	ENST00000258886.13	protein_coding		3873		chr15	TogoVar
IREB2_chr15_78433216_78506453	78434342	G G	GCATGTGT others(33): Show GCATGTGTGCGCGTGCGCGCGCGCGCACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0262 a0001c0002t0004g0262	1	261	0.0038	40	c.-39 others(51): Show c.-3996_-3995insCATGTGTGCGCGTGCGCGCGCGCGCACACACACA CACACA	IREB2	ENSG00000136381.13	transcript	ENST00000258886.13	protein_coding		3873		chr15	TogoVar
IREB2_chr15_78433216_78506453	78434342	G G	GCATGTGT others(33): Show GCATGTGTGCGCGTGCGCGCGCGCGCGCACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG01255.hp1 HG02145.hp2 others(6): Show HG00280.hp1 HG01255.hp1 HG02145.hp2 HG02257.hp1 HG02818.hp1 HG04228.hp1 NA19009.hp2 NA20129.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0004 a0001c0002t0027 a0002c0003t0010 a0001c0002t0004 a0001c0002t0027 a0002c0003t0010	a0001c0002t0004g0243 a0001c0002t0004g0252 a0001c0002t0004g0255 others(6): Show a0001c0002t0004g0243 a0001c0002t0004g0252 a0001c0002t0004g0255 a0001c0002t0004g0257 a0001c0002t0004g0264 a0001c0002t0004g0269 a0001c0002t0027g0240 a0002c0003t0010g0013 a0002c0003t0010g0141	9	269	0.0335	40	c.-39 others(51): Show c.-3996_-3995insCATGTGTGCGCGTGCGCGCGCGCGCGCACACACA CACACA	IREB2	ENSG00000136381.13	transcript	ENST00000258886.13	protein_coding		3873		chr15	TogoVar
IREB2_chr15_78433216_78506453	78434342	G G	GCATGTGT others(33): Show GCATGTGTGCGCGTGCGCGTGCGCGCGCACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0273 a0001c0002t0004g0273	1	261	0.0038	40	c.-39 others(51): Show c.-3996_-3995insCATGTGTGCGCGTGCGCGTGCGCGCGCACACACA CACACA	IREB2	ENSG00000136381.13	transcript	ENST00000258886.13	protein_coding		3873		chr15	TogoVar
IREB2_chr15_78433216_78506453	78434342	G G	GCATGTGT others(33): Show GCATGTGTGTGCGTGCGCGCGCGCGCGCGCGCGCACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0331 a0001c0001t0013g0331	1	261	0.0038	40	c.-39 others(51): Show c.-3996_-3995insCATGTGTGTGCGTGCGCGCGCGCGCGCGCGCGCA CACACA	IREB2	ENSG00000136381.13	transcript	ENST00000258886.13	protein_coding		3873		chr15	TogoVar
IRF3_chr19_49654572_49670857	49659984	T T	TACACACA others(33): Show TACACACACACACATATACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG03486.hp1 HG01069.hp2 HG03486.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0133 a0002c0001t0002g0156 a0002c0001t0002g0133 a0002c0001t0002g0156	2	153	0.0131	40	c.109 others(57): Show c.1099-152_1099-151insGTGTGTGTGTGTGTGTGTGTGTGTATAT GTGTGTGTGTGT	IRF3	ENSG00000126456.16	transcript	ENST00000377139.8	protein_coding	7/7			chr19	TogoVar
IRF3_chr19_49654572_49670857	49659984	T T	TACACACA others(33): Show TACACACACACACATATATACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0154 a0002c0001t0002g0154	1	152	0.0066	40	c.109 others(57): Show c.1099-152_1099-151insGTGTGTGTGTGTGTGTGTGTGTATATAT GTGTGTGTGTGT	IRF3	ENSG00000126456.16	transcript	ENST00000377139.8	protein_coding	7/7			chr19	TogoVar
IRF7_chr11_607555_620950	609822	A A	ACCGAGGA others(33): Show ACCGAGGACAGAGCCCCCCGTGAGTAGGGCCCTGGCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02257.hp1 HG02622.hp1 others(1): Show HG02055.hp1 HG02257.hp1 HG02622.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	4	406	0.0099	40	c.28 others(51): Show c.2822_*2823insCGGGGGCCAGGGCCCTACTCACGGGGGGCTCTGT CCTCGG	IRF7	ENSG00000185507.21	transcript	ENST00000525445.6	protein_coding		2732		chr11	TogoVar
IRS1_chr2_226726312_226804820	226728076	G G	GGTGTGTG others(33): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0194 a0001c0001t0007g0194	1	2	0.5000	40	c.81 others(51): Show c.8195_*8196insACACACACACACACACACACACACACACACACAC ACACAC	IRS1	ENSG00000169047.6	transcript	ENST00000305123.6	protein_coding		3235		chr2	TogoVar
ISM1_chr20_13216274_13305651	13268114	G G	GTCTTCTC others(33): Show GTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0033 a0001c0001t0003g0033	1	77	0.0130	40	c.139 others(57): Show c.139-2389_139-2350dupTCTTCTCTTCTCTTCTCTTCTCTTCTCT TCTCTTCTCTTC	ISM1	ENSG00000101230.6	transcript	ENST00000262487.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
ISM1_chr20_13216274_13305651	13273215	T T	TTTTTATT others(33): Show TTTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	89	0.0112	40	c.378 others(57): Show c.378+2511_378+2512insATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTT	ISM1	ENSG00000101230.6	transcript	ENST00000262487.5	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
ITFG1_chr16_47149391_47466063	47409404	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	13	0.0769	40	c.655 others(59): Show c.655+19399_655+19400insAATATATATATATATATATATATATA TATATATATATATA	ITFG1	ENSG00000129636.13	transcript	ENST00000320640.11	protein_coding	6/17			chr16	TogoVar
ITGA10_chr1_145886208_145915050	145909445	C C	CTATATAA others(33): Show CTATATAATATATAATTATGTTATATATTATATGTATATTA	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA20752.hp2 HG03831.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0125 a0001c0002t0001g0124 a0001c0001t0001g0125 a0001c0002t0001g0124	2	387	0.0052	40	c.52+ others(53): Show c.52+478_52+517dupTAATATACATATAATATATAACATAATTATAT ATTATATA	ITGA10	ENSG00000143127.13	transcript	ENST00000369304.8	protein_coding	1/29			chr1	TogoVar
ITGA3_chr17_50051110_50095481	50085521	G G	GAGGTTGT others(33): Show GAGGTTGTGGTGTATGTGTGATTGGGGTGGGGAAAGTGTGT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0337 a0001c0005t0003g0337	1	400	0.0025	40	c.292 others(59): Show c.2920-2223_2920-2222insAGGTTGTGGTGTATGTGTGATTGGGG TGGGGAAAGTGTGT	ITGA3	ENSG00000005884.18	transcript	ENST00000320031.13	protein_coding	23/25			chr17	TogoVar
ITGAD_chr16_31388335_31431505	31427961	C C	CCCCCCCC others(33): Show CCCCCCCCCGCCCCCGCAGCACCCCCCCCGCCCCCGCAGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	358	0.0028	40	c.18 others(51): Show c.1833_*1834insCCCCCCCCGCCCCCGCAGCACCCCCCCCGCCCCC GCAGCA	ITGAD	ENSG00000156886.12	transcript	ENST00000389202.3	protein_coding		1457		chr16	TogoVar
ITGAM_chr16_31254975_31337877	31302428	C C	CTTTCTTT others(33): Show CTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0174 a0001c0001t0002g0174	1	202	0.0050	40	c.170 others(59): Show c.1707+4476_1707+4477insTCTTTCTTTCTTTCTTTCTTCTTTCT TTCTTTCTTTCTTT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding	14/29		INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGB2_chr21_44880953_44925899	44906166	C C	CTCCCTCC others(33): Show CTCCCTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02572.hp1 HG02572.hp2 others(2): Show HG02055.hp2 HG02572.hp1 HG02572.hp2 HG03540.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0001t0005 a0001c0003t0002 a0001c0001t0004 a0001c0001t0005 a0001c0003t0002	a0001c0001t0004g0284 a0001c0001t0004g0407 a0001c0001t0005g0193 others(2): Show a0001c0001t0004g0284 a0001c0001t0004g0407 a0001c0001t0005g0193 a0001c0001t0005g0354 a0001c0003t0002g0192	5	442	0.0113	40	c.328 others(55): Show c.328+748_328+749insAGGGAGGGAGGGAAGGGAGGGAAGGGAGGG AAGGGAGGGA	ITGB2	ENSG00000160255.19	transcript	ENST00000652462.1	protein_coding	4/15			chr21	TogoVar
ITGB3BP_chr1_63435770_63528225	63472443	T T	TCCCTCTC others(33): Show TCCCTCTCCCTCTCCCTCTCCCCTCTCCCCTCTCCCCTCTC	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0301 a0001c0003t0001g0301	1	158	0.0063	40	c.254 others(57): Show c.254+6320_254+6321insGAGAGGGGAGAGGGGAGAGGGGAGAGGG AGAGGGAGAGGG	ITGB3BP	ENSG00000142856.17	transcript	ENST00000271002.15	protein_coding	4/8			chr1	TogoVar
ITGB5_chr3_124756948_124892365	124810908	T T	TCTTCTTT others(33): Show TCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp1 HG02615.hp2 others(3): Show HG01884.hp2 HG02451.hp1 HG02615.hp2 HG03041.hp1 HG03516.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0002 a0001c0008t0002 a0001c0008t0006 a0001c0001t0002 a0001c0008t0002 a0001c0008t0006	a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0008t0002g0308 others(3): Show a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0008t0002g0308 a0001c0008t0002g0309 a0001c0008t0002g0310 a0001c0008t0006g0307	6	303	0.0198	40	c.112 others(59): Show c.1129-1753_1129-1752insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAG	ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	8/14			chr3	TogoVar
ITGB5_chr3_124756948_124892365	124810908	T T	TTTTCTTT others(33): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	298	0.0034	40	c.112 others(59): Show c.1129-1753_1129-1752insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAA	ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	8/14			chr3	TogoVar

Search by Variant

Search

Search Results