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
HMBOX1_chr8_28885395_29058262	29003555	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp1 HG01168.hp2 others(15): Show HG00280.hp2 HG00558.hp1 HG01168.hp2 HG02809.hp1 HG03041.hp2 HG03486.hp2 NA18522.hp1 NA18941.hp1 NA18946.hp2 NA18968.hp1 NA18973.hp1 NA18981.hp2 NA18985.hp2 NA18992.hp2 NA19002.hp1 NA19002.hp2 NA19057.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009	a0001c0001t0001g0217 a0001c0001t0001g0277 a0001c0001t0001g0323 others(15): Show a0001c0001t0001g0217 a0001c0001t0001g0277 a0001c0001t0001g0323 a0001c0001t0002g0083 a0001c0001t0002g0134 a0001c0001t0002g0202 a0001c0001t0002g0205 a0001c0001t0002g0222 a0001c0001t0002g0245 a0001c0001t0002g0296 a0001c0001t0002g0319 a0001c0001t0003g0121 a0001c0001t0003g0326 a0001c0001t0005g0177 a0001c0001t0005g0230 a0001c0001t0006g0337 a0001c0001t0006g0339 a0001c0001t0009g0129	18	344	0.0523	30	c.587 others(47): Show c.587-5495_587-5494insATATATATATATATATATATATATATAT AT	HMBOX1	ENSG00000147421.18	transcript	ENST00000287701.15	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
HMGCLL1_chr6_55429373_55584192	55477449	A A	ATATATTA others(23): Show ATATATTACATATAATATATAATATATATAT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	334	0.0030	30	c.795 others(49): Show c.795+17940_795+17969dupATATATATATTATATATTATATGTAA TATA	HMGCLL1	ENSG00000146151.14	transcript	ENST00000274901.9	protein_coding	7/8			chr6	TogoVar
HMGN1_chr21_39337315_39354088	39337369	G G	GATAGATA others(23): Show GATAGATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	414	0.0024	30	c.57 others(41): Show c.5742_*5743insATATATATATATATATATATATATATCTAT	HMGN1	ENSG00000205581.11	transcript	ENST00000380749.10	protein_coding		4945		chr21	TogoVar
HMGN1_chr21_39337315_39354088	39337369	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00639.hp2 HG01070.hp1 others(11): Show HG00323.hp1 HG00639.hp2 HG01070.hp1 HG01071.hp2 HG01243.hp2 HG01993.hp1 HG02083.hp2 HG02630.hp2 HG03017.hp1 HG03130.hp2 HG03942.hp2 NA18612.hp2 NA19067.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0063 a0001c0001t0005g0093 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0063 a0001c0001t0005g0093 a0001c0001t0006g0112 a0001c0001t0009g0036 a0001c0001t0011g0022 a0002c0002t0001g0026	14	414	0.0338	30	c.57 others(41): Show c.5742_*5743insATATATATATATATATATATATATATATAT	HMGN1	ENSG00000205581.11	transcript	ENST00000380749.10	protein_coding		4945		chr21	TogoVar
HMGN1_chr21_39337315_39354088	39345109	T T	TCACACAC others(23): Show TCACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0081 a0001c0001t0003g0081	1	414	0.0024	30	c.255 others(43): Show c.255+36_255+37insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	HMGN1	ENSG00000205581.11	transcript	ENST00000380749.10	protein_coding	5/5			chr21	TogoVar
HMGN3_chr6_79196245_79239682	79238247	G G	GACACACA others(23): Show GACACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01516.hp1 HG01192.hp2 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0146 a0001c0001t0001g0043 a0001c0001t0001g0146	2	322	0.0062	30	c.-36 others(41): Show c.-3688_-3687insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	HMGN3	ENSG00000118418.16	transcript	ENST00000620514.2	protein_coding		3566		chr6	TogoVar
HMGN5_chrX_81108699_81206913	81153550	C C	CCTCTCTC others(23): Show CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	225	0.0044	30	c.-12 others(51): Show c.-123-31908_-123-31879dupAGAGAGAGAGAGAGAGAGAGAGAG AGAGAG	HMGN5	ENSG00000198157.11	transcript	ENST00000358130.7	protein_coding	1/6			chrX	TogoVar
HMGN5_chrX_81108699_81206913	81153583	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	225	0.0044	30	c.-12 others(51): Show c.-123-31912_-123-31911insTATATAGAGAGAGAGAGAGAGAGA GAGAGA	HMGN5	ENSG00000198157.11	transcript	ENST00000358130.7	protein_coding	1/6			chrX	TogoVar
HMHB1_chr5_143807161_143825716	143820318	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02293.hp1 HG02293.hp2 others(1): Show HG02080.hp1 HG02293.hp1 HG02293.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0056 a0001c0002t0001g0035 a0001c0001t0001g0056 a0001c0002t0001g0035	4	458	0.0087	30	c.38- others(43): Show c.38-159_38-130dupAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	HMHB1	ENSG00000158497.6	transcript	ENST00000289448.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr5	TogoVar
HMOX1_chr22_35376096_35399207	35380833	T T	TTGTGTGT others(23): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0004 a0001c0003t0001g0004	1	384	0.0026	30	c.-34 others(39): Show c.-341_-340insTGTGTGTGTGTGTGTGTGTGTGTGTGTATG	HMOX1	ENSG00000100292.18	transcript	ENST00000216117.9	protein_coding		262		chr22	TogoVar
HMOX1_chr22_35376096_35399207	35389229	C C	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0041 a0001c0016t0001g0041	1	384	0.0026	30	c.637 others(45): Show c.637-624_637-623insCTTTCTTTCTTTCTTTCTTTTTCTTTCTTT	HMOX1	ENSG00000100292.18	transcript	ENST00000216117.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
HMX2_chr10_123143136_123155672	123143603	A A	AGGCGCCT others(23): Show AGGCGCCTTCTCCTGGAGGCGCCTTCTCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	448	0.0022	30	c.-47 others(41): Show c.-4776_-4775insGGCGCCTTCTCCTGGAGGCGCCTTCTCCTG	HMX2	ENSG00000188816.4	transcript	ENST00000339992.4	protein_coding		4532		chr10	TogoVar
HMX3_chr10_123130970_123144423	123143603	A A	AGGCGCCT others(23): Show AGGCGCCTTCTCCTGGAGGCGCCTTCTCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	464	0.0022	30	c.58 others(41): Show c.5872_*5873insGGCGCCTTCTCCTGGAGGCGCCTTCTCCTG	HMX3	ENSG00000188620.11	transcript	ENST00000357878.7	protein_coding		4181		chr10	TogoVar
HNF4A_chr20_44350699_44437845	44388374	C C	CCCCCCCC others(23): Show CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCA	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0128 a0001c0001t0036g0128	1	322	0.0031	30	c.50- others(47): Show c.50-17678_50-17677insCCCCCCCCCCCCCCCCCCCCCCCACCCC CC	HNF4A	ENSG00000101076.20	transcript	ENST00000316673.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr20	TogoVar
HNRNPCL1_chr1_12842377_12853720	12851879	A A	ACCGACCA others(23): Show ACCGACCATGTAGAGAAGCATAAAGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0001 a0012c0013t0001	a0012c0013t0001g0021 a0012c0013t0001g0021	1	354	0.0028	30	c.-33 others(41): Show c.-3381_-3380insCCCCACCTTTATGCTTCTCTACATGGTCGG	HNRNPCL1	ENSG00000179172.10	transcript	ENST00000317869.7	protein_coding		3160		chr1	TogoVar
HNRNPD_chr4_82347498_82378991	82347971	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp1 NA18970.hp2 NA18993.hp2 others(2): Show NA18939.hp1 NA18970.hp2 NA18993.hp2 NA18995.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0003 a0001c0001t0002g0148 a0001c0001t0003g0001 a0001c0001t0002g0003 a0001c0001t0002g0148 a0001c0001t0003g0001	5	332	0.0151	30	c.62 others(41): Show c.6213_*6214insTATATATATATATATATATATATATATATA	HNRNPD	ENSG00000138668.20	transcript	ENST00000313899.12	protein_coding		4526		chr4	TogoVar
HNRNPH2_chrX_101403222_101419133	101407461	C C	CGAGAGAG others(23): Show CGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG01952.hp1 HG01993.hp1 others(6): Show HG00438.hp2 HG01952.hp1 HG01993.hp1 HG02559.hp1 NA18747.hp1 NA18967.hp1 NA18975.hp1 NA18995.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0002 a0001c0001t0002g0016 a0001c0001t0002g0020 others(2): Show a0001c0001t0002g0002 a0001c0001t0002g0016 a0001c0001t0002g0020 a0001c0001t0003g0002 a0001c0001t0003g0030	9	308	0.0292	30	c.-91 others(39): Show c.-912_-911insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	HNRNPH2	ENSG00000126945.9	transcript	ENST00000316594.6	protein_coding		760		chrX	TogoVar
HNRNPR_chr1_23299688_23349284	23321163	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0051 a0001c0001t0005g0051	1	354	0.0028	30	c.811 others(45): Show c.811+364_811+365insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	HNRNPR	ENSG00000125944.22	transcript	ENST00000302271.11	protein_coding	7/10			chr1	TogoVar
HNRNPR_chr1_23299688_23349284	23336116	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0046 a0001c0001t0005g0046	1	354	0.0028	30	c.384 others(47): Show c.384+1637_384+1638insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	HNRNPR	ENSG00000125944.22	transcript	ENST00000302271.11	protein_coding	4/10			chr1	TogoVar
HOMER2_chr15_82843983_82957720	82860956	T T	TGAGAGAG others(23): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02622.hp1 HG03579.hp1 others(4): Show HG02572.hp1 HG02622.hp1 HG03579.hp1 HG03579.hp2 NA18522.hp1 NA18906.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0002 a0001c0001 a0001c0009 a0002c0002	a0001c0001t0001 a0001c0001t0010 a0001c0009t0001 others(1): Show a0001c0001t0001 a0001c0001t0010 a0001c0009t0001 a0002c0002t0001	a0001c0001t0001g0074 a0001c0001t0001g0176 a0001c0001t0001g0318 others(4): Show a0001c0001t0001g0074 a0001c0001t0001g0176 a0001c0001t0001g0318 a0001c0001t0001g0323 a0001c0001t0010g0161 a0001c0009t0001g0169 a0002c0002t0001g0336	7	348	0.0201	30	c.388 others(47): Show c.388-1822_388-1821insTCTCTCTCTCTCTCTCTCTCTCTCTCTC TC	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	4/8			chr15	TogoVar
HOMER2_chr15_82843983_82957720	82860977	G G	GAGAGAGA others(23): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03492.hp2 HG03471.hp1 HG03492.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0003 a0002c0002t0001 a0001c0003t0003 a0002c0002t0001	a0001c0003t0003g0009 a0002c0002t0001g0333 a0001c0003t0003g0009 a0002c0002t0001g0333	2	348	0.0058	30	c.388 others(47): Show c.388-1843_388-1842insTTCTCTCTCTCTCTCTCTCTCTCTCTCT CT	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	4/8			chr15	TogoVar
HOMER2_chr15_82843983_82957720	82868523	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01515.hp2 HG01884.hp2 others(13): Show HG00099.hp2 HG01515.hp2 HG01884.hp2 HG01928.hp2 HG01943.hp2 HG01981.hp2 HG02273.hp2 HG03130.hp2 HG03516.hp2 HG04204.hp2 NA18906.hp1 NA18983.hp2 NA19007.hp1 NA19009.hp2 NA19085.hp1 NA20805.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0004c0004t0001	a0001c0001t0001g0034 a0001c0001t0001g0069 a0001c0001t0001g0070 others(13): Show a0001c0001t0001g0034 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0153 a0001c0001t0001g0215 a0001c0001t0001g0249 a0001c0001t0001g0262 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0308 a0001c0001t0001g0321 a0001c0001t0002g0155 a0001c0001t0004g0269 a0001c0001t0006g0261 a0001c0001t0011g0279 a0004c0004t0001g0148	16	348	0.0460	30	c.295 others(47): Show c.295-4265_295-4264insTATATATATATATATATATATATATATA TA	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	3/8			chr15	TogoVar
HOMER2_chr15_82843983_82957720	82868523	T T	TTTTATAT others(23): Show TTTTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG03017.hp1 NA18965.hp1 HG00738.hp2 HG03017.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0150 a0001c0001t0001g0160 a0001c0001t0001g0164	3	348	0.0086	30	c.295 others(47): Show c.295-4265_295-4264insTATATATATATATATATATATATATATA AA	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	3/8			chr15	TogoVar
HOMER2_chr15_82843983_82957720	82868541	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	348	0.0029	30	c.295 others(47): Show c.295-4283_295-4282insAATATATATATATATATATATATATATA TA	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	3/8			chr15	TogoVar
HOMER2_chr15_82843983_82957720	82868541	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0330 a0001c0001t0001g0330	1	348	0.0029	30	c.295 others(47): Show c.295-4283_295-4282insAAAATATATATATATATATATATATATA TA	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	3/8			chr15	TogoVar
HOMEZ_chr14_23267422_23291132	23280696	T T	TTTTATTT others(23): Show TTTTATTTATTTTATTTTATATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02738.hp2 HG03017.hp1 others(7): Show HG02071.hp2 HG02738.hp2 HG03017.hp1 HG03942.hp2 HG04115.hp1 NA18948.hp2 NA18968.hp2 NA18971.hp2 NA18974.hp1 NA19090.hp2	a0004 a0016 a0004 a0016	a0004c0004 a0016c0025 a0004c0004 a0016c0025	a0004c0004t0002 a0016c0025t0002 a0004c0004t0002 a0016c0025t0002	a0004c0004t0002g0007 a0004c0004t0002g0049 a0004c0004t0002g0165 others(3): Show a0004c0004t0002g0007 a0004c0004t0002g0049 a0004c0004t0002g0165 a0004c0004t0002g0169 a0004c0004t0002g0281 a0016c0025t0002g0167	10	394	0.0254	30	c.41- others(45): Show c.41-3510_41-3509insTAAAATAAAATATAAAATAAAATAAATAAA	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
HOMEZ_chr14_23267422_23291132	23280710	T T	TTTTTATT others(23): Show TTTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19077.hp1 NA19087.hp2 NA19009.hp1 NA19077.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	3	394	0.0076	30	c.41- others(45): Show c.41-3553_41-3524dupTAAAATAAAATAAAATAAAATAAAATAAAA	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
HOMEZ_chr14_23267422_23291132	23280740	A A	ATTATTTT others(23): Show ATTATTTTATTTTATTTTATTTTATTTTATT	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19090.hp1 NA19066.hp2 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0195 a0002c0002t0002g0247 a0002c0002t0002g0195 a0002c0002t0002g0247	2	394	0.0051	30	c.41- others(45): Show c.41-3583_41-3554dupAATAAAATAAAATAAAATAAAATAAAATAA	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
HOMEZ_chr14_23267422_23291132	23280740	A A	ATTTTATT others(23): Show ATTTTATTATTTTATTTTATTTTATTTTATT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0248 a0002c0002t0002g0248	1	394	0.0025	30	c.41- others(45): Show c.41-3554_41-3553insAATAAAATAAAATAAAATAAAATAATAAAA	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
HOMEZ_chr14_23267422_23291132	23280740	A A	ATTTTATT others(23): Show ATTTTATTTTATTTTATTTTATTATTTTATT	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA20129.hp1 HG02965.hp1 NA20129.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0009 a0001c0001 a0007c0009	a0001c0001t0001 a0007c0009t0031 a0001c0001t0001 a0007c0009t0031	a0001c0001t0001g0073 a0007c0009t0031g0054 a0001c0001t0001g0073 a0007c0009t0031g0054	2	394	0.0051	30	c.41- others(45): Show c.41-3554_41-3553insAATAAAATAATAAAATAAAATAAAATAAAA	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
HOMEZ_chr14_23267422_23291132	23280740	A A	ATTTTATT others(23): Show ATTTTATTTTATTTTATTTTATTTTATTATT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02559.hp1 NA18952.hp2 others(1): Show HG01074.hp1 HG02559.hp1 NA18952.hp2 NA19005.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0005 a0001c0001 a0006c0005	a0001c0001t0001 a0006c0005t0002 a0001c0001t0001 a0006c0005t0002	a0001c0001t0001g0057 a0001c0001t0001g0079 a0001c0001t0001g0177 others(1): Show a0001c0001t0001g0057 a0001c0001t0001g0079 a0001c0001t0001g0177 a0006c0005t0002g0101	4	394	0.0102	30	c.41- others(45): Show c.41-3554_41-3553insAATAATAAAATAAAATAAAATAAAATAAAA	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
HORMAD2_chr22_30075464_30182075	30175237	T T	TTATATAT others(23): Show TTATATATAATATAATATAGAATATATATAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01074.hp2 HG01168.hp1 others(45): Show HG00558.hp1 HG01074.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01256.hp2 HG01258.hp1 HG01361.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp2 HG02083.hp1 HG02135.hp1 HG02486.hp1 HG02723.hp1 HG02809.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG03017.hp1 HG03041.hp2 HG03195.hp2 HG03490.hp1 HG03516.hp1 HG03579.hp2 HG03669.hp1 HG03831.hp2 HG04115.hp1 NA18945.hp1 NA18946.hp2 NA18962.hp2 NA18968.hp2 NA18979.hp1 NA18982.hp1 NA18983.hp2 NA18989.hp1 NA18998.hp1 NA18999.hp2 NA19062.hp1 NA19072.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA20300.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0056 others(44): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0056 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156	48	350	0.1371	30	c.820 others(45): Show c.820-823_820-794dupTATATAATATAATATAGAATATATATAATA	HORMAD2	ENSG00000176635.18	transcript	ENST00000336726.11	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr22	TogoVar
HOXA13_chr7_27189364_27205091	27202822	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG03486.hp1 HG01981.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0003g0003 a0001c0001t0001g0001 a0001c0001t0003g0003	2	416	0.0048	30	c.-27 others(41): Show c.-2746_-2745insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	HOXA13	ENSG00000106031.9	transcript	ENST00000649031.1	protein_coding		2732		chr7	TogoVar
HOXA3_chr7_27102010_27157583	27140001	C C	CAGAGAGA others(23): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02809.hp2 HG02083.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0015 a0001c0001t0008 a0001c0001t0015	a0001c0001t0008g0273 a0001c0001t0015g0306 a0001c0001t0008g0273 a0001c0001t0015g0306	2	326	0.0061	30	c.-39 others(45): Show c.-390+52_-390+81dupCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	HOXA3	ENSG00000105997.23	transcript	ENST00000612286.5	protein_coding	2/5			chr7	TogoVar
HOXA5_chr7_27136052_27148681	27140001	C C	CAGAGAGA others(23): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02809.hp2 HG02083.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0003 a0001c0001t0005g0005 a0001c0001t0003g0003 a0001c0001t0005g0005	2	398	0.0050	30	c.18 others(41): Show c.1804_*1833dupCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	HOXA5	ENSG00000106004.5	transcript	ENST00000222726.4	protein_coding		1050		chr7	TogoVar
HOXC4_chr12_54048835_54061030	54058950	G G	GGTGTGTG others(23): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	400	0.0025	30	c.37 others(41): Show c.3745_*3746insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	HOXC4	ENSG00000198353.8	transcript	ENST00000430889.3	protein_coding		2921		chr12	TogoVar
HOXC8_chr12_54003985_54017769	54013944	T T	TTTCTCTT others(23): Show TTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA18962.hp2 NA18948.hp1 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0001 a0001c0001t0011g0001 a0001c0001t0001g0001 a0001c0001t0011g0001	2	306	0.0065	30	c.25 others(41): Show c.2563_*2564insTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		1176		chr12	TogoVar
HOXC8_chr12_54003985_54017769	54014000	T T	TTCTCTTC others(23): Show TTCTCTTCTCTTCTCTTCTTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0005	1	306	0.0033	30	c.26 others(41): Show c.2619_*2620insTCTCTTCTCTTCTCTTCTTCTCTCTCTCTC	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		1232		chr12	TogoVar
HOXC8_chr12_54003985_54017769	54014000	T T	TTCTCTTC others(23): Show TTCTCTTCTTCTCTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp2 NA19079.hp2 NA19077.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0004 a0001c0001t0008	a0001c0001t0004g0001 a0001c0001t0008g0001 a0001c0001t0004g0001 a0001c0001t0008g0001	2	306	0.0065	30	c.26 others(41): Show c.2619_*2620insTCTCTTCTTCTCTCTCTCTCTCTCTCTCTC	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		1232		chr12	TogoVar
HOXD3_chr2_176152307_176178098	176168566	T T	TAAAACAA others(23): Show TAAAACAAAACAAAACAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02922.hp2 HG03209.hp2 others(4): Show HG02258.hp2 HG02922.hp2 HG03209.hp2 HG03453.hp2 HG03486.hp2 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0103 a0001c0004t0001g0016 a0001c0004t0001g0049 others(2): Show a0001c0001t0001g0103 a0001c0004t0001g0016 a0001c0004t0001g0049 a0001c0004t0001g0051 a0001c0004t0001g0053	7	332	0.0211	30	c.-84 others(45): Show c.-84-444_-84-443insAAACAAAACAAAACAAAACAAAACAAAACA	HOXD3	ENSG00000128652.12	transcript	ENST00000683222.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
HPCAL1_chr2_10297904_10432604	10399220	C C	CCACCACC others(23): Show CCACCACCACCGCCGCTGCCGCTACCACCAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0026 a0001c0001t0008g0026	1	314	0.0032	30	c.-25 others(47): Show c.-25+2310_-25+2311insGCCGCTGCCGCTACCACCATCACCACCA CC	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HPN_chr19_35036721_35071573	35048082	A A	AAGAAAGA others(23): Show AAGAAAGAAAGAAAGAAAGAAAGAAAAAAGG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01975.hp2 HG02083.hp2 others(1): Show HG00733.hp2 HG01975.hp2 HG02083.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0068 a0001c0001t0001g0225 a0001c0001t0001g0248 others(1): Show a0001c0001t0001g0068 a0001c0001t0001g0225 a0001c0001t0001g0248 a0001c0001t0002g0233	4	384	0.0104	30	c.17- others(45): Show c.17-1207_17-1206insGAAAGAAAGAAAGAAAGAAAGAAAAAAGGA	HPN	ENSG00000105707.15	transcript	ENST00000672452.2	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
HPSE2_chr10_98452077_99240852	98580836	A A	ATATATAT others(23): Show ATATATATATATATATATATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02647.hp1 HG02809.hp1 others(3): Show HG01884.hp1 HG02647.hp1 HG02809.hp1 HG03540.hp1 HG03579.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 a0001c0001 a0001c0007 a0002c0002	a0001c0001t0005 a0001c0001t0008 a0001c0001t0016 others(3): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0016 a0001c0001t0028 a0001c0007t0001 a0002c0002t0007	a0001c0001t0005g0027 a0001c0001t0008g0030 a0001c0001t0016g0124 others(3): Show a0001c0001t0005g0027 a0001c0001t0008g0030 a0001c0001t0016g0124 a0001c0001t0028g0097 a0001c0007t0001g0100 a0002c0002t0007g0101	6	142	0.0423	30	c.132 others(51): Show c.1320+34067_1320+34068insCACACACACACATATATATATATA TATATA	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	9/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98580836	A A	ATATATAT others(23): Show ATATATATATATATATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0012 a0002c0002t0011g0012	1	142	0.0070	30	c.132 others(51): Show c.1320+34067_1320+34068insCACACACACACACACATATATATA TATATA	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	9/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98749947	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0057 a0001c0001t0009g0057	1	142	0.0070	30	c.611 others(47): Show c.611-5892_611-5891insGTGTATATATATATATATATATATATAT AT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	99132241	G G	GAGAGAGA others(23): Show GAGAGAGAGAGAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0083 a0001c0001t0029g0083	1	142	0.0070	30	c.610 others(49): Show c.610+11996_610+11997insTTCTTTCTTTCTTTCTTTCTCTCTCT CTCT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HRG_chr3_186661014_186683234	186675298	T T	TGAGAGAG others(23): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0055 a0002c0002t0001g0055	1	472	0.0021	30	c.741 others(45): Show c.741+109_741+110insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	HRG	ENSG00000113905.5	transcript	ENST00000232003.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
HRH3_chr20_62209960_62225278	62212529	A A	AACTGTGG others(23): Show AACTGTGGTGGGGCTGGTTGTGCTTTTGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	368	0.0027	30	c.34 others(41): Show c.3476_*3477insGCCCAAAAGCACAACCAGCCCCACCACAGT	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		2430		chr20	TogoVar
HS2ST1_chr1_86909635_87114982	86976704	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00741.hp1 HG01106.hp2 others(7): Show HG00140.hp1 HG00741.hp1 HG01106.hp2 HG01256.hp1 HG02486.hp2 HG02615.hp2 HG02622.hp2 HG03139.hp2 HG03492.hp2 NA18949.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0012 a0001c0001t0022 others(1): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0022 a0004c0004t0001	a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 others(7): Show a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0102 a0001c0001t0001g0115 a0001c0001t0012g0092 a0001c0001t0022g0071 a0004c0004t0001g0094	10	154	0.0649	30	c.124 others(49): Show c.124+61561_124+61562insATATATATATATATATATATATATAT ATAT	HS2ST1	ENSG00000153936.18	transcript	ENST00000370550.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
HS2ST1_chr1_86909635_87114982	86990812	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0137 a0001c0001t0005g0137	1	154	0.0065	30	c.124 others(49): Show c.124+75677_124+75678insATATATATATATATATATATATATAT ATAT	HS2ST1	ENSG00000153936.18	transcript	ENST00000370550.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar

Search by Variant

Search

Search Results