Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
EREG_chr4_74360145_74393749	74390806	T T	TAAAAAAA others(36): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG03130.hp1 HG02559.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0045 a0001c0001t0007g0228 a0001c0001t0007g0045 a0001c0001t0007g0228	2	358	0.0056	43	c.59 others(54): Show c.5998_*5999insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	EREG	ENSG00000124882.4	transcript	ENST00000244869.3	protein_coding		2058		chr4	TogoVar
ERGIC1_chr5_172829251_172957683	172904225	T T	TGAATTTT others(36): Show TGAATTTTCACCTGTGTTTACACACGTAACCATCACTCTGATGA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0159 a0001c0001t0002g0159	1	334	0.0030	43	c.156 others(60): Show c.156-5441_156-5399dupGAATTTTCACCTGTGTTTACACACGTAA CCATCACTCTGATGA	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908323	A A	AGGGGAGG others(36): Show AGGGGAGGGGGGGAGGGGGGGGAGGGGGGGGAGAGAGGGGAGGG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	334	0.0030	43	c.156 others(60): Show c.156-1325_156-1324insGGAGGGGGGGGAGAGAGGGGAGGGGGGG AGGGGGGGAGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908323	A A	AGGGGAGG others(36): Show AGGGGAGGGGGGGAGGGGGGGGAGGGGGGGGGAGAGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA19011.hp1 HG02976.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0040 a0001c0001t0002g0333 a0001c0001t0001g0040 a0001c0001t0002g0333	2	334	0.0060	43	c.156 others(60): Show c.156-1325_156-1324insGGAGGGGGGGGGAGAGAGGGGAGGGGGG AGGGGGGGAGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(36): Show AGGGGGGGGGGGGGGGAGGGGGGGGAGAGAGGGGAGGGGGGGAG	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp2 NA18964.hp1 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0187 a0001c0001t0002g0073 a0001c0001t0002g0187	2	334	0.0060	43	c.156 others(60): Show c.156-1332_156-1331insGGGGGGGGAGGGGGGGGAGAGAGGGGAG GGGGGGAGGGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908344	G G	GAGGGGGG others(36): Show GAGGGGGGGGAGAGAGGGGAGGGGGGGAGGGGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG02293.hp2 NA18747.hp2 NA18944.hp1 HG02293.hp2 NA18747.hp2 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0195 a0001c0001t0001g0279 a0001c0001t0002g0176 a0001c0001t0001g0195 a0001c0001t0001g0279 a0001c0001t0002g0176	3	334	0.0090	43	c.156 others(60): Show c.156-1323_156-1322insAGGGGGGGGAGAGAGGGGAGGGGGGGAG GGGGGGGAGGGGGGA	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9			chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908344	G G	GGGGGGGG others(36): Show GGGGGGGGAGAGAGGGGAGGGGGGGGAGGGGGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	334	0.0030	43	c.156 others(60): Show c.156-1316_156-1315insAGAGAGGGGAGGGGGGGGAGGGGGGGGG AGGGGGGAGGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908344	G G	GGGGGGGG others(36): Show GGGGGGGGGAGAGAGGGGAGGGGGGGAGGGGGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18983.hp2 NA18960.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0059 a0001c0001t0002g0194 a0001c0001t0001g0059 a0001c0001t0002g0194	2	334	0.0060	43	c.156 others(60): Show c.156-1315_156-1314insAGAGAGGGGAGGGGGGGAGGGGGGGGGA GGGGGGAGGGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908344	G G	GGGGGGGG others(36): Show GGGGGGGGGGAGAGAGGGGAGGGGGGGAGGGGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	334	0.0030	43	c.156 others(60): Show c.156-1315_156-1314insGAGAGAGGGGAGGGGGGGAGGGGGGGGA GGGGGGAGGGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERG_chr21_38375036_38503477	38407645	T T	TATATATA others(36): Show TATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0320 a0001c0001t0011g0320	1	360	0.0028	43	c.389 others(60): Show c.389-3937_389-3936insTATATATATATATATATATATATATATA TATATATATATATAT	ERG	ENSG00000157554.20	transcript	ENST00000288319.12	protein_coding	3/9			chr21	TogoVar
ERI3_chr1_44216070_44360257	44342857	A A	ATATATAT others(36): Show ATATATATATATAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	340	0.0029	43	c.212 others(60): Show c.212-3536_212-3535insATATATATATATATATATATATATATAT ATTTATATATATATA	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8			chr1	TogoVar
ERI3_chr1_44216070_44360257	44342858	T T	TATATATA others(36): Show TATATATATAAATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18990.hp2 NA18949.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0182 a0001c0001t0001g0141 a0001c0001t0001g0182	2	340	0.0059	43	c.212 others(60): Show c.212-3537_212-3536insTATATATATATATATATATATATATATA TATATTTATATATAT	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8			chr1	TogoVar
ERI3_chr1_44216070_44360257	44342858	T T	TATATATA others(36): Show TATATATATATAAATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	340	0.0029	43	c.212 others(60): Show c.212-3537_212-3536insTATATATATATATATATATATATATATA TATTTATATATATAT	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8			chr1	TogoVar
ERICH1_chr8_659200_736224	696003	C C	CACTCGCT others(36): Show CACTCGCTCCTCTCACCCTCCACTCCTCTCCTTCCTCCCCATCA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02735.hp2 HG02723.hp2 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0340 a0001c0002t0002g0341 a0001c0002t0002g0340 a0001c0002t0002g0341	2	378	0.0053	43	c.170 others(60): Show c.170-3392_170-3391insTGATGGGGAGGAAGGAGAGGAGTGGAGG GTGAGAGGAGCGAGT	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	713459	C C	CACGGATT others(36): Show CACGGATTTGTCCCATGGGAAAAGCATGCTTAGTGTAACCCCGT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	378	0.0027	43	c.169 others(60): Show c.169+2359_169+2401dupACGGGGTTACACTAAGCATGCTTTTCCC ATGGGACAAATCCGT	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	713977	A A	AGTGGGAT others(36): Show AGTGGGATGTGCTGCACCCAGGCGGCCTCTTCCCGCATCTCTCG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0351 a0001c0001t0002g0351	1	378	0.0027	43	c.169 others(60): Show c.169+1883_169+1884insCGAGAGATGCGGGAAGAGGCCGCCTGGG TGCAGCACATCCCAC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	713977	A A	AGTGGGAT others(36): Show AGTGGGATGTGCTGCACCCAGGCGGCCTCTTCCGGCATCTCTCG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03486.hp2 HG02572.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0247 a0001c0001t0002g0248	2	378	0.0053	43	c.169 others(60): Show c.169+1841_169+1883dupCGAGAGATGCCGGAAGAGGCCGCCTGGG TGCAGCACATCCCAC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	714010	G G	GGCATCTC others(36): Show GGCATCTCTCGGTGGGATGTGCTGCACCCAGGCGGCCTCTTCCC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0318 a0001c0003t0002g0318	1	378	0.0027	43	c.169 others(60): Show c.169+1808_169+1850dupGGGAAGAGGCCGCCTGGGTGCAGCACAT CCCACCGAGAGATGC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	714569	G G	GGCATCTC others(36): Show GGCATCTCTCGGTGGGATGTGCTGCACCCAGGCGGCCTCTTCCC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02886.hp1 NA19030.hp1 HG02630.hp1 HG02886.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0003t0001g0224 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0003t0001g0224	3	378	0.0079	43	c.169 others(60): Show c.169+1249_169+1291dupGGGAAGAGGCCGCCTGGGTGCAGCACAT CCCACCGAGAGATGC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH5_chr8_98059568_98098609	98091900	C C	CTTTCTTT others(36): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0330 a0001c0001t0001g0330	1	442	0.0023	43	c.101 others(62): Show c.1013-1321_1013-1320insTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	2/2			chr8	TogoVar
ERP44_chr9_99974185_100104000	99974682	C C	CCCCCCCC others(36): Show CCCCCCCCCCCCCCCACCCCCACCCCCCCCCCCCCCCCCCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	220	0.0046	43	c.79 others(54): Show c.7929_*7930insTGGGGGGGGGGGGGGGGGGGGGTGGGGGTGGGGG GGGGGGGGG	ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding		4502		chr9	TogoVar
ESRRG_chr1_216498251_216728429	216524214	T T	TTTATATA others(36): Show TTTATATATATATATACATATATATATATATATATATATGTAAG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0257 a0001c0001t0015g0257	1	286	0.0035	43	c.863 others(60): Show c.863-4794_863-4793insCTTACATATATATATATATATATATATG TATATATATATATAA	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	5/6			chr1	TogoVar
ETFA_chr15_76210353_76316469	76311932	C C	CTTTTTTT others(36): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0156	1	336	0.0030	43	c.-54 others(52): Show c.-545_-544insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding		464		chr15	TogoVar
ETNPPL_chr4_108737053_108768053	108750614	G G	GATATATA others(36): Show GATATATATATTTTATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG03927.hp2 NA18955.hp2 others(3): Show HG00408.hp1 HG03927.hp2 NA18955.hp2 NA18965.hp2 NA18981.hp1 NA19060.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 others(3): Show a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0099	6	378	0.0159	43	c.701 others(58): Show c.701+321_701+322insATATATATATATATATATATATATATATAT AAAATATATATAT	ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding	7/12			chr4	TogoVar
ETNPPL_chr4_108737053_108768053	108750614	G G	GATATATA others(36): Show GATATATATTTTATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02145.hp2 HG03195.hp1 others(1): Show HG01175.hp1 HG02145.hp2 HG03195.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0302 a0002c0002t0001g0303 a0002c0002t0001g0305 others(1): Show a0002c0002t0001g0302 a0002c0002t0001g0303 a0002c0002t0001g0305 a0002c0002t0001g0309	4	378	0.0106	43	c.701 others(58): Show c.701+321_701+322insATATATATATATATATATATATATATATAT ATAAAATATATAT	ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding	7/12			chr4	TogoVar
EVA1C_chr21_32407706_32520387	32477905	A A	ACCTCCCC others(36): Show ACCTCCCCCGTACGCCCTCCCCTCCCCTCCCCCGTACGCCCTCC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0247 a0001c0002t0001g0247	1	346	0.0029	43	c.634 others(62): Show c.634+10062_634+10063insCCCGTACGCCCTCCCCTCCCCTCCCC CGTACGCCCTCCCCTCC	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr21	TogoVar
EXD3_chr9_137301896_137428162	137355693	G G	GGGAGGAA others(36): Show GGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0018 a0018	a0018c0022 a0018c0022	a0018c0022t0001 a0018c0022t0001	a0018c0022t0001g0038 a0018c0022t0001g0038	1	82	0.0122	43	c.757 others(58): Show c.757+574_757+575insTTCCTCCTTCCTCCTTCCTCCCTTTCTCCT TCCTCCTTCCTCC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
EXOC2_chr6_480154_698139	501447	C C	CTATATAT others(36): Show CTATATATATTATATATATATTATATATATCTATATATATTATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	272	0.0037	43	c.238 others(62): Show c.2381-1748_2381-1747insTATAATATATATAGATATATATAATA TATATATAATATATATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	501502	C C	CTATATAT others(36): Show CTATATATATTATATATATATTATATATATCTATATATATTATA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0019 a0001c0001t0015g0019	1	272	0.0037	43	c.238 others(62): Show c.2381-1803_2381-1802insTATAATATATATAGATATATATAATA TATATATAATATATATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC6B_chr2_72170984_72831033	72773120	C C	CTTTTTTT others(36): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0064 a0001c0002t0002g0064	1	104	0.0096	43	c.114 others(62): Show c.114-31652_114-31651insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAA	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	1/21			chr2	TogoVar
EXPH5_chr11_108500435_108598768	108586505	T T	TCCCCCAC others(36): Show TCCCCCACCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTC	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18906.hp2 NA19087.hp2 HG00673.hp1 NA18906.hp2 NA19087.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0005c0005t0003 a0001c0001t0001 a0005c0005t0003	a0001c0001t0001g0091 a0005c0005t0003g0211 a0005c0005t0003g0212 a0001c0001t0001g0091 a0005c0005t0003g0211 a0005c0005t0003g0212	3	314	0.0096	43	c.119 others(60): Show c.119+6912_119+6913insGAGGGAGGAAAGGGGATGGGGGAGGGAG GAAAGGGGGTGGGGG	EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	1/5			chr11	TogoVar
EXPH5_chr11_108500435_108598768	108586609	T T	TCCCCCAT others(36): Show TCCCCCATCCTCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0032 a0032	a0032c0029 a0032c0029	a0032c0029t0004 a0032c0029t0004	a0032c0029t0004g0113 a0032c0029t0004g0113	1	314	0.0032	43	c.119 others(60): Show c.119+6808_119+6809insGAGGGAGGAAAGGGGATGGGGGAGGGAG GAAAGAGGATGGGGG	EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	1/5			chr11	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0322 a0001c0001t0002g0322	1	392	0.0026	43	c.-68 others(62): Show c.-68-15034_-68-15033insAAAAATATATATATATATATATATAT ATATATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0313 a0001c0001t0002g0313	1	392	0.0026	43	c.-68 others(62): Show c.-68-15034_-68-15033insAAAAAAATATATATATATATATATAT ATATATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
F7_chr13_113100791_113125685	113105038	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0021 a0002c0002t0021	a0002c0002t0021g0061 a0002c0002t0021g0061	1	400	0.0025	43	c.-80 others(52): Show c.-804_-803insTATATATATATATATATATATATATATATATATATA TATATAT	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding		752		chr13	TogoVar
FAF1_chr1_50432028_50965267	50908636	T T	TTGTCTCT others(36): Show TTGTCTCTTTTAATCTTTGTTGGTGTAAAGTCTTTTAATCTTCC	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	190	0.0053	43	c.46- others(60): Show c.46-50640_46-50639insGGAAGATTAAAAGACTTTACACCAACAA AGATTAAAAGAGACA	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	1/18			chr1	TogoVar
FAM168A_chr11_73395487_73603112	73541731	T T	TGTTATGA others(36): Show TGTTATGATGATTAAATGAGATAAACTTATGAAAATGCTTTGTG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0053 a0001c0002t0001g0053	1	180	0.0056	43	c.-19 others(62): Show c.-19+56149_-19+56191dupCACAAAGCATTTTCATAAGTTTATCT CATTTAATCATCATAAC	FAM168A	ENSG00000054965.11	transcript	ENST00000356467.5	protein_coding	1/7			chr11	TogoVar
FAM168A_chr11_73395487_73603112	73545008	C C	CTATATAT others(36): Show CTATATATAATATATTATATAATATATATATATAATATATAATA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0127 a0001c0002t0001g0127	1	180	0.0056	43	c.-19 others(62): Show c.-19+52914_-19+52915insTATTATATATTATATATATATATTAT ATAATATATTATATATA	FAM168A	ENSG00000054965.11	transcript	ENST00000356467.5	protein_coding	1/7			chr11	TogoVar
FAM178B_chr2_96870885_96991580	96876099	A A	AGGCAGGC others(36): Show AGGCAGGCTCTTGCAGAGAGGAGAGGGGTCGGGGCGGTGGCAGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0007 a0002c0010t0007	a0002c0010t0007g0160 a0002c0010t0007g0160	1	250	0.0040	43	c.13 others(52): Show c.134_*176dupCCTGCCACCGCCCCGACCCCTCTCCTCTCTGCAAGA GCCTGCC	FAM178B	ENSG00000168754.15	transcript	ENST00000490605.3	protein_coding	17/17	176		chr2	TogoVar
FAM184A_chr6_118954763_119083664	118970008	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp2 NA18961.hp1 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0269 a0001c0001t0001g0191 a0001c0001t0001g0269	2	286	0.0070	43	c.291 others(62): Show c.2916-3057_2916-3056insAAAAATATATATATATATATATATAT ATATATATATATATATA	FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17			chr6	TogoVar
FAM184A_chr6_118954763_119083664	118970008	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0239 a0001c0001t0001g0240	2	286	0.0070	43	c.291 others(62): Show c.2916-3057_2916-3056insAAAAAAATATATATATATATATATAT ATATATATATATATATA	FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17			chr6	TogoVar
FAM184A_chr6_118954763_119083664	118970008	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0242 a0006c0007t0001g0242	1	286	0.0035	43	c.291 others(62): Show c.2916-3057_2916-3056insAAAAAAAAATATATATATATATATAT ATATATATATATATATA	FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17			chr6	TogoVar
FAM193A_chr4_2531647_2737573	2617262	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG06807.hp2 HG02615.hp2 HG06807.hp2	a0002 a0004 a0002 a0004	a0002c0011 a0004c0004 a0002c0011 a0004c0004	a0002c0011t0003 a0004c0004t0001 a0002c0011t0003 a0004c0004t0001	a0002c0011t0003g0114 a0004c0004t0001g0327 a0002c0011t0003g0114 a0004c0004t0001g0327	2	330	0.0061	43	c.502 others(60): Show c.502-7999_502-7998insATATATATATATATATATATATATATAT ATATATTTTTTTTTT	FAM193A	ENSG00000125386.16	transcript	ENST00000637812.2	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM193A_chr4_2531647_2737573	2617262	A A	ATATATAT others(36): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0234 a0003c0003t0001g0234	1	330	0.0030	43	c.502 others(60): Show c.502-7999_502-7998insATATATATATATATATATTTTTTTTTTT TTTTTTTTTTTTTTT	FAM193A	ENSG00000125386.16	transcript	ENST00000637812.2	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM20B_chr1_179020894_179081567	179041671	G G	GGAGGGAG others(36): Show GGAGGGAGAGGGAGAGGGAGAGGGAGACGGGAGACAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00735.hp2 HG01069.hp2 others(34): Show HG00544.hp1 HG00735.hp2 HG01069.hp2 HG01074.hp1 HG01099.hp2 HG01175.hp1 HG01891.hp2 HG02015.hp1 HG02056.hp2 HG02080.hp1 HG02135.hp1 HG02145.hp1 HG02451.hp2 HG02486.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02922.hp1 HG02970.hp1 HG03195.hp2 HG03225.hp1 HG03516.hp1 NA18906.hp2 NA18942.hp1 NA18950.hp1 NA18951.hp2 NA18975.hp2 NA19000.hp1 NA19004.hp1 NA19006.hp1 NA19064.hp1 NA19076.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 others(4): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0019 a0001c0001t0033 a0001c0002t0020 a0002c0003t0005	a0001c0001t0005g0013 a0001c0001t0005g0059 a0001c0001t0005g0060 others(30): Show a0001c0001t0005g0013 a0001c0001t0005g0059 a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 a0001c0001t0005g0064 a0001c0001t0005g0065 a0001c0001t0005g0066 a0001c0001t0005g0067 a0001c0001t0005g0068 a0001c0001t0005g0069 a0001c0001t0005g0070 a0001c0001t0005g0071 a0001c0001t0005g0072 a0001c0001t0005g0073 a0001c0001t0007g0026 a0001c0001t0007g0107 a0001c0001t0007g0108 a0001c0001t0007g0109 a0001c0001t0007g0110 a0001c0001t0007g0111 a0001c0001t0007g0112 a0001c0001t0007g0113 a0001c0001t0007g0151 a0001c0001t0011g0015 a0001c0001t0011g0103 a0001c0001t0011g0104 a0001c0001t0019g0075 a0001c0001t0019g0076 a0001c0001t0033g0015 a0001c0002t0020g0105 a0001c0002t0020g0106 a0002c0003t0005g0063	37	408	0.0907	43	c.-13 others(62): Show c.-133-2024_-133-2023insGGGAGACGGGAGACAGGGAGGGAGAG GGAGAGGGAGAGGGAGA	FAM20B	ENSG00000116199.12	transcript	ENST00000263733.5	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
FAM210A_chr18_13658347_13731558	13674143	T T	TATTTCCA others(36): Show TATTTCCAGTTTCCTGACTATTAACATTCCTGAGCCCCGACTTC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0063 a0001c0001t0021g0063	1	326	0.0031	43	c.474 others(60): Show c.474-2171_474-2170insGAAGTCGGGGCTCAGGAATGTTAATAGT CAGGAAACTGGAAAT	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	2/3			chr18	TogoVar
FAM210A_chr18_13658347_13731558	13674143	T T	TATTTCCT others(36): Show TATTTCCTGTTTCCTGATTATTAAAATTCCTGAGCCCCGACTTC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01175.hp2 HG01261.hp1 others(15): Show HG01168.hp1 HG01175.hp2 HG01261.hp1 HG01361.hp2 HG01516.hp1 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02451.hp2 HG02622.hp1 HG02970.hp1 HG02970.hp2 HG03453.hp1 HG03471.hp2 HG03669.hp2 HG03710.hp2 NA19030.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0033 a0001c0001t0001 a0001c0001t0005 a0001c0001t0033	a0001c0001t0001g0027 a0001c0001t0001g0046 a0001c0001t0001g0047 others(13): Show a0001c0001t0001g0027 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0286 a0001c0001t0005g0028 a0001c0001t0005g0270 a0001c0001t0005g0271 a0001c0001t0005g0278 a0001c0001t0005g0283 a0001c0001t0033g0275	18	326	0.0552	43	c.474 others(60): Show c.474-2171_474-2170insGAAGTCGGGGCTCAGGAATTTTAATAAT CAGGAAACAGGAAAT	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	2/3			chr18	TogoVar
FAM210A_chr18_13658347_13731558	13674143	T T	TATTTCCT others(36): Show TATTTCCTGTTTCCTGATTATTAAAATTCCTGAGCCCGGACTTC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG03239.hp2 HG03927.hp2 HG01978.hp2 HG03239.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0005g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0005g0272	3	326	0.0092	43	c.474 others(60): Show c.474-2171_474-2170insGAAGTCCGGGCTCAGGAATTTTAATAAT CAGGAAACAGGAAAT	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	2/3			chr18	TogoVar
FAM210A_chr18_13658347_13731558	13675127	T T	TATTTCCT others(36): Show TATTTCCTGTTTCCTGATTATTAAAATTCCTGAGCCCCGACTTC	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	326	0.0031	43	c.474 others(60): Show c.474-3155_474-3154insGAAGTCGGGGCTCAGGAATTTTAATAAT CAGGAAACAGGAAAT	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	2/3			chr18	TogoVar
FAM210A_chr18_13658347_13731558	13675848	T T	TATTTCCA others(36): Show TATTTCCAGTTTCCTGATTATTAACATTCCTGAGCCCCGACTTC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0121 a0001c0001t0003g0121	1	326	0.0031	43	c.474 others(60): Show c.474-3876_474-3875insGAAGTCGGGGCTCAGGAATGTTAATAAT CAGGAAACTGGAAAT	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	2/3			chr18	TogoVar

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Search Results (Total: 2299 hits)