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
HIVEP1_chr6_12007312_12169999	12074643	T T	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTATGTGTGTGC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG01928.hp1 others(2): Show HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01952.hp1 HG01981.hp1	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0001 a0002c0007t0001 a0002c0002t0001 a0002c0007t0001	a0002c0002t0001g0049 a0002c0002t0001g0142 a0002c0002t0001g0241 others(2): Show a0002c0002t0001g0049 a0002c0002t0001g0142 a0002c0002t0001g0241 a0002c0002t0001g0341 a0002c0007t0001g0340	5	344	0.0145	26	c.41- others(43): Show c.41-14540_41-14539insTGTGTGTGTGTGTGTATGTGTGTGCG	HIVEP1	ENSG00000095951.17	transcript	ENST00000379388.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
HIVEP1_chr6_12007312_12169999	12090735	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02723.hp1 HG02622.hp2 HG02723.hp1	a0007 a0020 a0007 a0020	a0007c0012 a0020c0027 a0007c0012 a0020c0027	a0007c0012t0001 a0020c0027t0001 a0007c0012t0001 a0020c0027t0001	a0007c0012t0001g0327 a0020c0027t0001g0219 a0007c0012t0001g0327 a0020c0027t0001g0219	2	344	0.0058	26	c.94+ others(41): Show c.94+1522_94+1523insTTTTTTTTTTTTTTTTTTTTTTTTTT	HIVEP1	ENSG00000095951.17	transcript	ENST00000379388.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
HIVEP1_chr6_12007312_12169999	12167581	C C	CATGTTAT others(19): Show CATGTTATATTACATGTATATATACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01261.hp2 others(9): Show HG01070.hp1 HG01071.hp1 HG01261.hp2 HG02027.hp2 HG02056.hp2 HG02135.hp2 HG02145.hp2 HG02280.hp2 HG02683.hp2 HG03834.hp2 NA18978.hp2 NA19043.hp2	a0003 a0005 a0010 others(1): Show a0003 a0005 a0010 a0018	a0003c0003 a0005c0008 a0010c0019 others(1): Show a0003c0003 a0005c0008 a0010c0019 a0018c0025	a0003c0003t0001 a0005c0008t0001 a0010c0019t0001 others(1): Show a0003c0003t0001 a0005c0008t0001 a0010c0019t0001 a0018c0025t0001	a0003c0003t0001g0266 a0005c0008t0001g0053 a0005c0008t0001g0064 others(9): Show a0003c0003t0001g0266 a0005c0008t0001g0053 a0005c0008t0001g0064 a0005c0008t0001g0135 a0005c0008t0001g0189 a0005c0008t0001g0194 a0005c0008t0001g0195 a0005c0008t0001g0196 a0005c0008t0001g0310 a0010c0019t0001g0042 a0010c0019t0001g0122 a0018c0025t0001g0324	12	344	0.0349	26	c.31 others(37): Show c.3120_*3121insATGTTATATTACATGTATATATACAT	HIVEP1	ENSG00000095951.17	transcript	ENST00000379388.7	protein_coding		2583		chr6	TogoVar
HIVEP1_chr6_12007312_12169999	12168068	T T	TATACATA others(19): Show TATACATATGTGTATATATACATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG03041.hp2 HG01109.hp2 HG03041.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0158 a0001c0005t0001g0252 a0001c0005t0001g0158 a0001c0005t0001g0252	2	344	0.0058	26	c.36 others(37): Show c.3607_*3608insATACATATGTGTATATATACATATAC	HIVEP1	ENSG00000095951.17	transcript	ENST00000379388.7	protein_coding		3070		chr6	TogoVar
HIVEP1_chr6_12007312_12169999	12168105	A A	ATATATAC others(19): Show ATATATACATATATACATATACACGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0024 a0024	a0024c0039 a0024c0039	a0024c0039t0006 a0024c0039t0006	a0024c0039t0006g0061 a0024c0039t0006g0061	1	344	0.0029	26	c.36 others(37): Show c.3644_*3645insTATATACATATATACATATACACGTG	HIVEP1	ENSG00000095951.17	transcript	ENST00000379388.7	protein_coding		3107		chr6	TogoVar
HIVEP2_chr6_142746469_142950176	142793622	C C	CTCTTTCT others(19): Show CTCTTTCTTTCCTCTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0026 a0001c0006t0001g0026	1	288	0.0035	26	c.-52 others(47): Show c.-527-10008_-527-10007insAAGAAAGAAAGAAGAGGAAAGAAA GA	HIVEP2	ENSG00000010818.11	transcript	ENST00000367603.8	protein_coding	2/9			chr6	TogoVar
HIVEP2_chr6_142746469_142950176	142793622	C C	CTCTTTCT others(19): Show CTCTTTCTTTCCTTCTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0010 a0010	a0010c0035 a0010c0035	a0010c0035t0001 a0010c0035t0001	a0010c0035t0001g0181 a0010c0035t0001g0181	1	288	0.0035	26	c.-52 others(47): Show c.-527-10008_-527-10007insAAGAAAGAAAGAGAAGGAAAGAAA GA	HIVEP2	ENSG00000010818.11	transcript	ENST00000367603.8	protein_coding	2/9			chr6	TogoVar
HIVEP2_chr6_142746469_142950176	142820297	T T	TTCTCTCT others(19): Show TTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	288	0.0035	26	c.-52 others(47): Show c.-528+16637_-528+16638insGAGAGAGAGAGAGAGAGAGAGAGA GA	HIVEP2	ENSG00000010818.11	transcript	ENST00000367603.8	protein_coding	2/9			chr6	TogoVar
HIVEP3_chr1_41501365_41923922	41665707	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0014 a0013c0015t0014	a0013c0015t0014g0032 a0013c0015t0014g0032	1	134	0.0075	26	c.-72 others(47): Show c.-721+35183_-721+35208dupGTGTGTGTGTGTGTGTGTGTGTGT GT	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	2/8			chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41749404	T T	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG06807.hp1 HG01168.hp2 HG01169.hp2 HG06807.hp1	a0001 a0032 a0001 a0032	a0001c0004 a0032c0038 a0001c0004 a0032c0038	a0001c0004t0082 a0001c0004t0085 a0032c0038t0019 a0001c0004t0082 a0001c0004t0085 a0032c0038t0019	a0001c0004t0082g0129 a0001c0004t0085g0128 a0032c0038t0019g0026 a0001c0004t0082g0129 a0001c0004t0085g0128 a0032c0038t0019g0026	3	134	0.0224	26	c.-80 others(47): Show c.-800-48435_-800-48410dupCACACACACACACACACACACACA CA	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	1/8			chr1	TogoVar
HK1_chr10_69273496_69406882	69276118	A A	AAAAAAAA others(19): Show AAAAAAAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0024 a0001c0002t0002g0024	1	280	0.0036	26	c.-28 others(37): Show c.-2863_-2862insAAAAAAAAATATATATATATATATAT	HK1	ENSG00000156515.25	transcript	ENST00000643399.2	protein_coding		2377		chr10	TogoVar
HK1_chr10_69273496_69406882	69276118	A A	AAAAAATA others(19): Show AAAAAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0002 a0001c0023t0002	a0001c0023t0002g0164 a0001c0023t0002g0164	1	280	0.0036	26	c.-28 others(37): Show c.-2863_-2862insAAAAATATATATATATATATATATAT	HK1	ENSG00000156515.25	transcript	ENST00000643399.2	protein_coding		2377		chr10	TogoVar
HK1_chr10_69273496_69406882	69276118	A A	AAAATATA others(19): Show AAAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0095 a0001c0002t0017g0095	1	280	0.0036	26	c.-28 others(37): Show c.-2863_-2862insAAATATATATATATATATATATATAT	HK1	ENSG00000156515.25	transcript	ENST00000643399.2	protein_coding		2377		chr10	TogoVar
HK1_chr10_69273496_69406882	69276138	T T	TATATATA others(19): Show TATATATATATATATATATATACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0019 a0001c0005t0019	a0001c0005t0019g0063 a0001c0005t0019g0063	1	280	0.0036	26	c.-28 others(37): Show c.-2843_-2842insATATATATATATATATATATACACAC	HK1	ENSG00000156515.25	transcript	ENST00000643399.2	protein_coding		2357		chr10	TogoVar
HK2_chr2_74829127_74898359	74882605	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01099.hp1 HG01256.hp1 others(27): Show HG00438.hp2 HG01099.hp1 HG01256.hp1 HG01258.hp2 HG01516.hp1 HG02056.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02559.hp1 HG02698.hp1 HG03490.hp2 HG03942.hp2 NA18960.hp1 NA18975.hp1 NA18980.hp1 NA18985.hp1 NA18986.hp2 NA19006.hp1 NA19011.hp2 NA19056.hp2 NA19068.hp2 NA19074.hp2 NA19078.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp2 NA19087.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0001c0006 others(4): Show a0001c0001 a0001c0005 a0001c0006 a0003c0003 a0003c0017 a0003c0041 a0003c0045	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(11): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0005t0017 a0001c0006t0001 a0001c0006t0003 a0001c0006t0021 a0003c0003t0002 a0003c0003t0003 a0003c0003t0008 a0003c0017t0003 a0003c0041t0001 a0003c0045t0001	a0001c0001t0002g0003 a0001c0001t0002g0054 a0001c0001t0002g0072 others(26): Show a0001c0001t0002g0003 a0001c0001t0002g0054 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0234 a0001c0001t0002g0255 a0001c0001t0002g0313 a0001c0001t0002g0361 a0001c0001t0002g0367 a0001c0001t0003g0276 a0001c0001t0005g0003 a0001c0001t0005g0035 a0001c0001t0007g0006 a0001c0001t0007g0249 a0001c0005t0017g0047 a0001c0006t0001g0046 a0001c0006t0003g0034 a0001c0006t0021g0109 a0003c0003t0002g0291 a0003c0003t0003g0036 a0003c0003t0003g0063 a0003c0003t0003g0152 a0003c0003t0003g0217 a0003c0003t0008g0236 a0003c0017t0003g0224 a0003c0041t0001g0071 a0003c0045t0001g0077	30	394	0.0761	26	c.183 others(43): Show c.1839+382_1839+383insTATATATATATATATATATATATATA	HK2	ENSG00000159399.10	transcript	ENST00000290573.7	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
HK2_chr2_74829127_74898359	74885845	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0021 a0001c0012t0021	a0001c0012t0021g0352 a0001c0012t0021g0352	1	394	0.0025	26	c.193 others(43): Show c.1935+272_1935+297dupCACACACACACACACACACACACACA	HK2	ENSG00000159399.10	transcript	ENST00000290573.7	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
HKDC1_chr10_69215332_69272552	69238368	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0264 a0001c0003t0001g0264	1	380	0.0026	26	c.496 others(41): Show c.496-655_496-654insTTTTTTTTTTTTTTTTTTTTTTTTTT	HKDC1	ENSG00000156510.13	transcript	ENST00000354624.6	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
HLA-DRA_chr6_32434887_32450046	32439070	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp2 NA18973.hp2 NA18998.hp2 others(2): Show NA18612.hp2 NA18973.hp2 NA18998.hp2 NA19005.hp2 NA19060.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0025 a0002c0002t0002g0003 a0002c0002t0002g0025	5	459	0.0109	26	c.-88 others(35): Show c.-881_-880insAAAAAAAAAAAAAAAAAAAAAAAAAA	HLA-DRA	ENSG00000204287.14	transcript	ENST00000395388.7	protein_coding		816		chr6	TogoVar
HLA-DRB1_chr6_32573775_32594848	32577251	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0009 a0009	a0009c0028 a0009c0028	a0009c0028t0007 a0009c0028t0007	a0009c0028t0007g0091 a0009c0028t0007g0091	1	208	0.0048	26	c.18 others(37): Show c.1839_*1840insTATATATATATATATATATATATATA	HLA-DRB1	ENSG00000196126.12	transcript	ENST00000360004.6	protein_coding		1523		chr6	TogoVar
HLA-DRB1_chr6_32573775_32594848	32584017	T T	TCTCACAC others(19): Show TCTCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0016 a0016	a0016c0018 a0016c0018	a0016c0018t0008 a0016c0018t0008	a0016c0018t0008g0042 a0016c0018t0008g0042	1	208	0.0048	26	c.370 others(39): Show c.370+91_370+92insTGTGTGTGTGTGTGTGTGTGTGTGAG	HLA-DRB1	ENSG00000196126.12	transcript	ENST00000360004.6	protein_coding	2/5			chr6	TogoVar
HLA-G_chr6_29822825_29836021	29831449	T T	TTTTTTTT others(19): Show TTTTTTTTTTTTTTTTTTTTTTTTTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00544.hp2 HG00639.hp1 others(14): Show HG00408.hp2 HG00544.hp2 HG00639.hp1 HG01192.hp2 HG01256.hp2 HG01433.hp2 HG02040.hp2 HG02071.hp1 HG02074.hp2 HG02165.hp2 HG03688.hp2 NA18747.hp1 NA18953.hp2 NA18966.hp2 NA18968.hp2 NA18993.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	17	479	0.0355	26	c.71 others(35): Show c.710_*711insTTTTTTTTTTTTTTTTTTTTTTTTTG	HLA-G	ENSG00000204632.13	transcript	ENST00000360323.11	protein_coding		429		chr6	TogoVar
HLCS_chr21_36743626_36971669	36823610	G G	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0021 a0001c0001t0005g0021	1	258	0.0039	26	c.189 others(47): Show c.1893-56351_1893-56326dupACACACACACACACACACACACAC AC	HLCS	ENSG00000159267.17	transcript	ENST00000674895.3	protein_coding	6/10			chr21	TogoVar
HLCS_chr21_36743626_36971669	36833593	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03471.hp2 HG03225.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0028 a0001c0004t0072 a0001c0001t0028 a0001c0004t0072	a0001c0001t0028g0167 a0001c0004t0072g0248 a0001c0001t0028g0167 a0001c0004t0072g0248	2	258	0.0078	26	c.189 others(47): Show c.1892+63266_1892+63267insTATATATATATATATATATATATA TA	HLCS	ENSG00000159267.17	transcript	ENST00000674895.3	protein_coding	6/10			chr21	TogoVar
HMBOX1_chr8_28885395_29058262	29003555	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01070.hp2 HG01123.hp1 others(14): Show HG00438.hp2 HG01070.hp2 HG01123.hp1 HG01516.hp1 HG02055.hp1 HG02080.hp2 HG02145.hp2 HG02630.hp2 HG02809.hp2 HG03098.hp2 HG03239.hp1 HG03669.hp1 HG03704.hp1 NA18943.hp2 NA18954.hp2 NA18957.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0018	a0001c0001t0001g0165 a0001c0001t0001g0229 a0001c0001t0001g0281 others(14): Show a0001c0001t0001g0165 a0001c0001t0001g0229 a0001c0001t0001g0281 a0001c0001t0001g0291 a0001c0001t0001g0294 a0001c0001t0002g0132 a0001c0001t0002g0193 a0001c0001t0002g0318 a0001c0001t0002g0342 a0001c0001t0005g0213 a0001c0001t0005g0292 a0001c0001t0005g0301 a0001c0001t0006g0327 a0001c0001t0006g0338 a0001c0001t0009g0080 a0001c0001t0010g0313 a0001c0001t0018g0304	17	344	0.0494	26	c.587 others(43): Show c.587-5495_587-5494insATATATATATATATATATATATATAT	HMBOX1	ENSG00000147421.18	transcript	ENST00000287701.15	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
HMBS_chr11_119079881_119098549	119086678	A A	AAAAAAAA others(19): Show AAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	444	0.0023	26	c.34- others(41): Show c.34-1576_34-1575insAAAAAAAATATATATATATATATATA	HMBS	ENSG00000256269.11	transcript	ENST00000652429.1	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
HMBS_chr11_119079881_119098549	119086678	A A	AAAAAAAA others(19): Show AAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	444	0.0023	26	c.34- others(41): Show c.34-1576_34-1575insAAAAAATATATATATATATATATATA	HMBS	ENSG00000256269.11	transcript	ENST00000652429.1	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
HMCN1_chr1_185729391_186195949	185794343	T T	TCATATAT others(19): Show TCATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0014 a0014	a0014c0012 a0014c0012	a0014c0012t0008 a0014c0012t0008	a0014c0012t0008g0001 a0014c0012t0008g0001	1	92	0.0109	26	c.269 others(45): Show c.269-51683_269-51682insCATATATATATATATATATATATATA	HMCN1	ENSG00000143341.12	transcript	ENST00000271588.9	protein_coding	1/106			chr1	TogoVar
HMCN1_chr1_185729391_186195949	185919074	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0036 a0036	a0036c0046 a0036c0046	a0036c0046t0001 a0036c0046t0001	a0036c0046t0001g0059 a0036c0046t0001g0059	1	92	0.0109	26	c.901 others(43): Show c.901-3288_901-3287insTATATATATATATATATATATATATA	HMCN1	ENSG00000143341.12	transcript	ENST00000271588.9	protein_coding	6/106		INFO_REALIGN_3_PRIME	chr1	TogoVar
HMCN1_chr1_185729391_186195949	186063060	G G	GCATATAT others(19): Show GCATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0020 a0020	a0020c0047 a0020c0047	a0020c0047t0001 a0020c0047t0001	a0020c0047t0001g0081 a0020c0047t0001g0081	1	92	0.0109	26	c.751 others(43): Show c.7513+460_7513+461insCATATATATATATATATATATATATA	HMCN1	ENSG00000143341.12	transcript	ENST00000271588.9	protein_coding	48/106			chr1	TogoVar
HMCN1_chr1_185729391_186195949	186063067	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0002 a0006c0006t0002	a0006c0006t0002g0053 a0006c0006t0002g0053	1	92	0.0109	26	c.751 others(43): Show c.7513+478_7513+503dupATATATATATATATATATATATATAT	HMCN1	ENSG00000143341.12	transcript	ENST00000271588.9	protein_coding	48/106		INFO_REALIGN_3_PRIME	chr1	TogoVar
HMCN1_chr1_185729391_186195949	186063096	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0001 a0004c0002t0001	a0004c0002t0001g0036 a0004c0002t0001g0036	1	92	0.0109	26	c.751 others(43): Show c.7513+503_7513+504insATATATATATATATATATGTATATAT	HMCN1	ENSG00000143341.12	transcript	ENST00000271588.9	protein_coding	48/106		INFO_REALIGN_3_PRIME	chr1	TogoVar
HMCN1_chr1_185729391_186195949	186110977	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02572.hp2 NA19240.hp2 HG01099.hp1 HG02572.hp2 NA19240.hp2	a0001 a0029 a0001 a0029	a0001c0001 a0001c0027 a0029c0033 a0001c0001 a0001c0027 a0029c0033	a0001c0001t0001 a0001c0027t0002 a0029c0033t0001 a0001c0001t0001 a0001c0027t0002 a0029c0033t0001	a0001c0001t0001g0075 a0001c0027t0002g0088 a0029c0033t0001g0076 a0001c0001t0001g0075 a0001c0027t0002g0088 a0029c0033t0001g0076	3	92	0.0326	26	c.109 others(47): Show c.10990-1814_10990-1813insTTTTTTTTTTTTTTTTTTTTTTTT TT	HMCN1	ENSG00000143341.12	transcript	ENST00000271588.9	protein_coding	71/106		INFO_REALIGN_3_PRIME	chr1	TogoVar
HMCN2_chr9_130260760_130439123	130293279	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03139.hp2 HG01496.hp2 HG03139.hp2	a0016 a0039 a0016 a0039	a0016c0140 a0039c0157 a0016c0140 a0039c0157	a0016c0140t0002 a0039c0157t0002 a0016c0140t0002 a0039c0157t0002	a0016c0140t0002g0230 a0039c0157t0002g0241 a0016c0140t0002g0230 a0039c0157t0002g0241	2	258	0.0078	26	c.613 others(43): Show c.613-1555_613-1554insTTTTTTTTTTTTTTTTTTTTTTTTTT	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	4/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMGA1_chr6_34231873_34251231	34243333	C C	CTTGGGTG others(19): Show CTTGGGTGGGCCTGTTGGGTGAGAGTG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02717.hp2 HG03195.hp2 others(3): Show HG02630.hp1 HG02717.hp2 HG03195.hp2 HG03225.hp1 HG03540.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0042 a0001c0001t0001g0011 a0001c0001t0001g0042	6	322	0.0186	26	c.220 others(41): Show c.220-128_220-103dupGGGCCTGTTGGGTGAGAGTGTTGGGT	HMGA1	ENSG00000137309.21	transcript	ENST00000311487.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
HMGB1_chr13_30451704_30470936	30464761	T T	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	384	0.0026	26	c.-15 others(43): Show c.-15+1009_-15+1034dupCACACACACACACACACACACACACA	HMGB1	ENSG00000189403.15	transcript	ENST00000341423.10	protein_coding	1/4			chr13	TogoVar
HMGB4_chr1_33859079_33869791	33862343	C C	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	402	0.0025	26	c.-18 others(37): Show c.-1849_-1848insTGTGTGTGTGTGTGTGTGTGTGTGTG	HMGB4	ENSG00000176256.11	transcript	ENST00000681531.1	protein_coding		1735		chr1	TogoVar
HMGN1_chr21_39337315_39354088	39337369	G G	GATAGATA others(19): Show GATAGATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	414	0.0024	26	c.57 others(37): Show c.5742_*5743insATATATATATATATATATATATCTAT	HMGN1	ENSG00000205581.11	transcript	ENST00000380749.10	protein_coding		4945		chr21	TogoVar
HMGN1_chr21_39337315_39354088	39337369	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG02922.hp2 HG03209.hp2 others(1): Show HG01192.hp2 HG02922.hp2 HG03209.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0001 a0001c0001t0010g0037 a0001c0001t0010g0109 a0001c0001t0001g0001 a0001c0001t0010g0037 a0001c0001t0010g0109	4	414	0.0097	26	c.57 others(37): Show c.5742_*5743insATATATATATATATATATATATATAT	HMGN1	ENSG00000205581.11	transcript	ENST00000380749.10	protein_coding		4945		chr21	TogoVar
HMGN1_chr21_39337315_39354088	39345109	T T	TCACACAC others(19): Show TCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA18950.hp1 NA18983.hp1 HG03669.hp1 NA18950.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0024	3	414	0.0073	26	c.255 others(39): Show c.255+11_255+36dupTGTGTGTGTGTGTGTGTGTGTGTGTG	HMGN1	ENSG00000205581.11	transcript	ENST00000380749.10	protein_coding	5/5			chr21	TogoVar
HMGN1_chr21_39337315_39354088	39348924	G G	GGCGGGGA others(19): Show GGCGGGGAAGGCGCGTGCCGGGTGCCT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01346.hp2 HG02559.hp1 HG02572.hp2 others(11): Show HG01346.hp2 HG02559.hp1 HG02572.hp2 HG02630.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG03098.hp2 HG03195.hp1 HG03225.hp1 HG06807.hp1 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0003 a0001c0001t0007g0042 a0001c0001t0007g0003 a0001c0001t0007g0042	14	414	0.0338	26	c.-33 others(32): Show c.-33_-8dupAGGCACCCGGCACGCGCCTTCCCCGC	HMGN1	ENSG00000205581.11	transcript	ENST00000380749.10	protein_coding	1/6	8		chr21	TogoVar
HMSD_chr18_63944301_63966835	63964070	G G	GCAAGGAC others(19): Show GCAAGGACATATGGCTTCTCGTAAGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	404	0.0025	26	c.37 others(37): Show c.3715_*3716insCAAGGACATATGGCTTCTCGTAAGCC	HMSD	ENSG00000221887.6	transcript	ENST00000408945.5	protein_coding		2236		chr18	TogoVar
HNF4A_chr20_44350699_44437845	44368160	A A	ATATATAT others(19): Show ATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0252 a0001c0001t0002g0252	1	322	0.0031	26	c.49+ others(43): Show c.49+12308_49+12309insATATATATATATATATATTTTTTTTT	HNF4A	ENSG00000101076.20	transcript	ENST00000316673.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr20	TogoVar
HNF4A_chr20_44350699_44437845	44434480	G G	GGAGGCCT others(19): Show GGAGGCCTTGTTCATGCTGCCGCCATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02809.hp2 HG03225.hp2 others(2): Show HG02559.hp1 HG02809.hp2 HG03225.hp2 HG03453.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0046 a0001c0001t0001 a0001c0001t0018 a0001c0001t0046	a0001c0001t0001g0190 a0001c0001t0001g0247 a0001c0001t0001g0255 others(2): Show a0001c0001t0001g0190 a0001c0001t0001g0247 a0001c0001t0001g0255 a0001c0001t0018g0020 a0001c0001t0046g0021	5	322	0.0155	26	c.48 others(37): Show c.4815_*4816insGAGGCCTTGTTCATGCTGCCGCCATC	HNF4A	ENSG00000101076.20	transcript	ENST00000316673.9	protein_coding		1636		chr20	TogoVar
HNRNPA1L2_chr13_52637431_52648773	52639694	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	436	0.0023	26	c.-27 others(37): Show c.-2799_-2798insAAAAAAAAAAAAAAAAAAAAAAAAAA	HNRNPA1L2	ENSG00000139675.13	transcript	ENST00000357495.5	protein_coding		2736		chr13	TogoVar
HNRNPAB_chr5_178199533_178216163	178203504	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 NA18995.hp1 NA19070.hp2 HG00597.hp2 NA18995.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0027 a0001c0001t0002g0001 a0001c0001t0002g0027	3	462	0.0065	26	c.-12 others(37): Show c.-1260_-1259insAAAAAAAAAAAAAAAAAAAAAAAAAA	HNRNPAB	ENSG00000197451.12	transcript	ENST00000358344.8	protein_coding		1028		chr5	TogoVar
HNRNPD_chr4_82347498_82378991	82347971	G G	GTACATAT others(19): Show GTACATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0145 a0001c0001t0015g0145	1	332	0.0030	26	c.62 others(37): Show c.6213_*6214insTATATATATATATATATATATATGTA	HNRNPD	ENSG00000138668.20	transcript	ENST00000313899.12	protein_coding		4526		chr4	TogoVar
HNRNPD_chr4_82347498_82378991	82347971	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG02056.hp2 HG02280.hp1 others(1): Show HG00423.hp1 HG02056.hp2 HG02280.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0124 others(1): Show a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0124 a0001c0001t0003g0001	4	332	0.0121	26	c.62 others(37): Show c.6213_*6214insTATATATATATATATATATATATATA	HNRNPD	ENSG00000138668.20	transcript	ENST00000313899.12	protein_coding		4526		chr4	TogoVar
HNRNPH2_chrX_101403222_101419133	101407461	C C	CGAGAGAG others(19): Show CGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02970.hp2 HG03130.hp1 others(1): Show HG02145.hp1 HG02970.hp2 HG03130.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0033 a0001c0001t0003g0002 a0001c0001t0003g0033	4	308	0.0130	26	c.-91 others(35): Show c.-912_-911insGAGAGAGAGAGAGAGAGAGAGAGAGA	HNRNPH2	ENSG00000126945.9	transcript	ENST00000316594.6	protein_coding		760		chrX	TogoVar
HNRNPR_chr1_23299688_23349284	23336116	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0053 a0001c0001t0005g0053	1	354	0.0028	26	c.384 others(43): Show c.384+1637_384+1638insTTTTTTTTTTTTTTTTTTTTTTTTTT	HNRNPR	ENSG00000125944.22	transcript	ENST00000302271.11	protein_coding	4/10			chr1	TogoVar
HOMER1_chr5_79367636_79519134	79368112	C C	CCGAGTAG others(19): Show CCGAGTAGCTGGGATTACAGGGGCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG03041.hp2 HG02895.hp2 HG02897.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0148 a0001c0001t0004g0149 a0001c0001t0006g0009 a0001c0001t0004g0148 a0001c0001t0004g0149 a0001c0001t0006g0009	3	290	0.0103	26	c.78 others(37): Show c.7896_*7897insTGGGCCCCTGTAATCCCAGCTACTCG	HOMER1	ENSG00000152413.15	transcript	ENST00000334082.11	protein_coding		4523		chr5	TogoVar

Search by Variant

Search

Search Results