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
FBXW11_chr5_171856549_172011638	171973240	C C	CTGCAACA others(17): Show CTGCAACACCCAGAAAGTGGGAAGT	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	158	0.0063	24	c.46- others(41): Show c.46-15566_46-15543dupACTTCCCACTTTCTGGGTGTTGCA	FBXW11	ENSG00000072803.18	transcript	ENST00000517395.6	protein_coding	1/13			chr5	TogoVar
FBXW7_chr4_152315544_152541092	152497342	A A	AAAAAAAA others(17): Show AAAAAAAAACCACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0240 a0001c0001t0011g0240	1	268	0.0037	24	c.-12 others(45): Show c.-120+37598_-120+37599insGTGTGTGTGTGTGTGGTTTTTTTT	FBXW7	ENSG00000109670.17	transcript	ENST00000281708.10	protein_coding	2/13			chr4	TogoVar
FCGR1A_chr1_149777694_149796675	149789409	A A	AATAATAA others(17): Show AATAATAATAATAATAATAATAATG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0034 a0002c0002t0001g0034	1	414	0.0024	24	c.560 others(39): Show c.560-634_560-633insAATAATAATAATGATAATAATAAT	FCGR1A	ENSG00000150337.14	transcript	ENST00000369168.5	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
FCGR2B_chr1_161658143_161683654	161661155	G G	GAACAAAG others(17): Show GAACAAAGAAAGAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 NA18971.hp1 HG03927.hp1 NA18971.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0007 a0002c0002t0001g0043 a0001c0001t0002g0007 a0002c0002t0001g0043	2	394	0.0051	24	c.-20 others(35): Show c.-2087_-2086insAACAAAGAAAGAAAGAAAGAAAGA	FCGR2B	ENSG00000072694.22	transcript	ENST00000358671.10	protein_coding		1987		chr1	TogoVar
FCGR2B_chr1_161658143_161683654	161661169	A A	AGAAAGAA others(17): Show AGAAAGAAAGAAAGAAAGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG02165.hp1 NA18941.hp1 others(13): Show HG01952.hp1 HG02165.hp1 NA18941.hp1 NA18945.hp1 NA18960.hp2 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18975.hp2 NA18995.hp2 NA18998.hp2 NA19004.hp1 NA19009.hp1 NA19063.hp1 NA19074.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0018 a0001c0001 a0001c0018	a0001c0001t0002 a0001c0018t0002 a0001c0001t0002 a0001c0018t0002	a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0015 others(5): Show a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0015 a0001c0001t0002g0027 a0001c0001t0002g0115 a0001c0001t0002g0119 a0001c0001t0002g0122 a0001c0018t0002g0120	16	394	0.0406	24	c.-20 others(35): Show c.-2073_-2072insGAAAGAAAGAAAGAAAGAAGGAAG	FCGR2B	ENSG00000072694.22	transcript	ENST00000358671.10	protein_coding		1973		chr1	TogoVar
FCGR2B_chr1_161658143_161683654	161661202	G G	GAAAGAAA others(17): Show GAAAGAAAGAAGGAAGGAAGGAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG03490.hp2 HG03492.hp2 HG02809.hp1 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0013 a0001c0004t0002g0056 a0001c0004t0002g0013 a0001c0004t0002g0056	3	394	0.0076	24	c.-20 others(35): Show c.-2040_-2039insAAAGAAAGAAGGAAGGAAGGAAAA	FCGR2B	ENSG00000072694.22	transcript	ENST00000358671.10	protein_coding		1940		chr1	TogoVar
FCGR2B_chr1_161658143_161683654	161661206	G G	GAAAGAAA others(17): Show GAAAGAAAGAAGGAAGGAAGGAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0002 a0001c0015t0002	a0001c0015t0002g0165 a0001c0015t0002g0165	1	394	0.0025	24	c.-20 others(35): Show c.-2036_-2035insAAAGAAAGAAGGAAGGAAGGAAAA	FCGR2B	ENSG00000072694.22	transcript	ENST00000358671.10	protein_coding		1936		chr1	TogoVar
FCGR2B_chr1_161658143_161683654	161661229	A A	AGAAGGAA others(17): Show AGAAGGAAGGAAGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp2 NA18982.hp1 NA19007.hp1 NA18951.hp2 NA18982.hp1 NA19007.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0016 a0001c0003t0002g0137 a0001c0003t0002g0016 a0001c0003t0002g0137	3	394	0.0076	24	c.-20 others(35): Show c.-2013_-2012insGAAGGAAGGAAGGAAGGAAGGAAG	FCGR2B	ENSG00000072694.22	transcript	ENST00000358671.10	protein_coding		1913		chr1	TogoVar
FCHSD2_chr11_72831745_73147318	73096987	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02523.hp1 NA19007.hp2 others(1): Show HG01934.hp2 HG02523.hp1 NA19007.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0217 a0001c0001t0001g0235 others(1): Show a0001c0001t0001g0172 a0001c0001t0001g0217 a0001c0001t0001g0235 a0001c0001t0001g0247	4	290	0.0138	24	c.120 others(43): Show c.120-13271_120-13248dupAAAAAAAAAAAAAAAAAAAAAAAA	FCHSD2	ENSG00000137478.15	transcript	ENST00000409418.9	protein_coding	2/19			chr11	TogoVar
FCHSD2_chr11_72831745_73147318	73126339	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	290	0.0035	24	c.119 others(43): Show c.119+13668_119+13691dupTTTTTTTTTTTTTTTTTTTTTTTT	FCHSD2	ENSG00000137478.15	transcript	ENST00000409418.9	protein_coding	2/19			chr11	TogoVar
FCHSD2_chr11_72831745_73147318	73142811	C C	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG02004.hp1 HG02647.hp2 others(5): Show HG01934.hp2 HG02004.hp1 HG02647.hp2 HG03490.hp1 HG03492.hp1 NA18954.hp1 NA19010.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0117 a0001c0001t0001g0188 a0001c0001t0001g0247 others(5): Show a0001c0001t0001g0117 a0001c0001t0001g0188 a0001c0001t0001g0247 a0001c0001t0001g0251 a0001c0001t0001g0269 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0005g0028	8	290	0.0276	24	c.-93 others(33): Show c.-935_-934insACACACACACACACACACACACAC	FCHSD2	ENSG00000137478.15	transcript	ENST00000409418.9	protein_coding		494		chr11	TogoVar
FCN1_chr9_134898232_134922912	134905783	C C	CGCTGCTG others(17): Show CGCTGCTGCTGCTGCTGCTGCTGCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00609.hp1 HG01070.hp2 HG01123.hp1 others(11): Show HG00609.hp1 HG01070.hp2 HG01123.hp1 HG01192.hp2 HG01346.hp2 HG01515.hp2 HG01517.hp2 HG02083.hp2 NA18747.hp1 NA18949.hp1 NA18965.hp2 NA18979.hp1 NA18995.hp1 NA19002.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0003 a0003c0008 others(1): Show a0001c0001 a0001c0003 a0003c0008 a0006c0019	a0001c0001t0283 a0001c0003t0015 a0001c0003t0053 others(8): Show a0001c0001t0283 a0001c0003t0015 a0001c0003t0053 a0001c0003t0267 a0001c0003t0268 a0001c0003t0279 a0001c0003t0281 a0001c0003t0288 a0001c0003t0292 a0003c0008t0255 a0006c0019t0293	a0001c0001t0283g0124 a0001c0003t0015g0017 a0001c0003t0053g0053 others(8): Show a0001c0001t0283g0124 a0001c0003t0015g0017 a0001c0003t0053g0053 a0001c0003t0267g0323 a0001c0003t0268g0324 a0001c0003t0279g0331 a0001c0003t0281g0333 a0001c0003t0288g0338 a0001c0003t0292g0341 a0003c0008t0255g0345 a0006c0019t0293g0346	14	434	0.0323	24	c.40 others(35): Show c.4014_*4015insAGCAGCAGCAGCAGCAGCAGCAGC	FCN1	ENSG00000085265.12	transcript	ENST00000371806.4	protein_coding	9/9	4014		chr9	TogoVar
FCN1_chr9_134898232_134922912	134905810	C C	CTCTTCTT others(17): Show CTCTTCTTCTTCTTCTTCTTCTTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp2 HG03195.hp1 HG00741.hp2 HG03195.hp1	a0001 a0001	a0001c0016 a0001c0017 a0001c0016 a0001c0017	a0001c0016t0249 a0001c0017t0088 a0001c0016t0249 a0001c0017t0088	a0001c0016t0249g0135 a0001c0017t0088g0056 a0001c0016t0249g0135 a0001c0017t0088g0056	2	434	0.0046	24	c.39 others(35): Show c.3987_*3988insAGAAGAAGAAGAAGAAGAAGAAGA	FCN1	ENSG00000085265.12	transcript	ENST00000371806.4	protein_coding	9/9	3987		chr9	TogoVar
FCN1_chr9_134898232_134922912	134905907	T T	TCTCCTCC others(17): Show TCTCCTCCTTCTTCTTCTCCTTCTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp2 HG03139.hp2 HG01884.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0306 a0001c0001t0066 a0001c0001t0306	a0001c0001t0066g0245 a0001c0001t0306g0263 a0001c0001t0066g0245 a0001c0001t0306g0263	2	434	0.0046	24	c.38 others(35): Show c.3890_*3891insGAGAAGGAGAAGAAGAAGGAGGAG	FCN1	ENSG00000085265.12	transcript	ENST00000371806.4	protein_coding	9/9	3890		chr9	TogoVar
FCN1_chr9_134898232_134922912	134905913	T T	TCTCCTCC others(17): Show TCTCCTCCTTCTTCTTCTCCTTCTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02572.hp2 HG02615.hp1 HG02717.hp1 HG02572.hp2 HG02615.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0062 a0001c0001t0079 a0001c0003t0296 a0001c0001t0062 a0001c0001t0079 a0001c0003t0296	a0001c0001t0062g0279 a0001c0001t0079g0275 a0001c0003t0296g0306 a0001c0001t0062g0279 a0001c0001t0079g0275 a0001c0003t0296g0306	3	434	0.0069	24	c.38 others(35): Show c.3884_*3885insGAGAAGGAGAAGAAGAAGGAGGAG	FCN1	ENSG00000085265.12	transcript	ENST00000371806.4	protein_coding	9/9	3884		chr9	TogoVar
FCN1_chr9_134898232_134922912	134905921	T T	TTCTCCCT others(17): Show TTCTCCCTCTCCCTCTCCCTCTCCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0294 a0001c0003t0294	a0001c0003t0294g0342 a0001c0003t0294g0342	1	434	0.0023	24	c.38 others(35): Show c.3853_*3876dupGGGAGAGGGAGAGGGAGAGGGAGA	FCN1	ENSG00000085265.12	transcript	ENST00000371806.4	protein_coding	9/9	3876		chr9	TogoVar
FCRL5_chr1_157508377_157557515	157546461	A A	AAACCAAA others(17): Show AAACCAAACCAAACCAAACCAAACC	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	366	0.0027	24	c.307 others(39): Show c.307+458_307+481dupGGTTTGGTTTGGTTTGGTTTGGTT	FCRL5	ENSG00000143297.19	transcript	ENST00000361835.8	protein_coding	3/16			chr1	TogoVar
FCSK_chr16_70449595_70485274	70483206	A A	GTCTCCCC others(17): Show GTCTCCCCACCCCTTCCCTCTCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01243.hp1 HG01891.hp1 others(34): Show HG00738.hp2 HG01243.hp1 HG01891.hp1 HG02109.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG06807.hp2 NA18906.hp2 NA21309.hp1	a0001 a0002 a0012 others(2): Show a0001 a0002 a0012 a0015 a0016	a0001c0001 a0002c0004 a0012c0012 others(2): Show a0001c0001 a0002c0004 a0012c0012 a0015c0021 a0016c0014	a0001c0001t0001 a0002c0004t0002 a0012c0012t0002 others(2): Show a0001c0001t0001 a0002c0004t0002 a0012c0012t0002 a0015c0021t0001 a0016c0014t0001	a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0124 others(19): Show a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0124 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0166 a0001c0001t0001g0170 a0002c0004t0002g0004 a0002c0004t0002g0046 a0002c0004t0002g0047 a0002c0004t0002g0048 a0012c0012t0002g0004 a0015c0021t0001g0008 a0016c0014t0001g0052	37	356	0.1039	24	c.35 others(34): Show c.3526delAinsGTCTCCCCACCCCTTCCCTCTCTCC	FCSK	ENSG00000157353.17	transcript	ENST00000288078.11	protein_coding		2932		chr16	TogoVar
FDFT1_chr8_11797741_11844298	11808709	G G	GTCCCACT others(17): Show GTCCCACTCCCACTCCCACTCCCAC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG04204.hp1 HG03710.hp2 HG04204.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0022 a0001c0005t0002g0022	2	458	0.0044	24	c.100 others(37): Show c.100-69_100-46dupCACTCCCACTCCCACTCCCACTCC	FDFT1	ENSG00000079459.14	transcript	ENST00000220584.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
FDFT1_chr8_11797741_11844298	11832551	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0272 a0001c0001t0003g0272	1	458	0.0022	24	c.103 others(41): Show c.1032+883_1032+906dupAAAAAAAAAAAAAAAAAAAAAAAA	FDFT1	ENSG00000079459.14	transcript	ENST00000220584.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
FDX1_chr11_110424948_110469884	110444721	T T	TACGTATA others(17): Show TACGTATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	400	0.0025	24	c.310 others(41): Show c.310+8786_310+8809dupACACGTATATATATATATATATAT	FDX1	ENSG00000137714.3	transcript	ENST00000260270.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
FEM1A_chr19_4786734_4806273	4799904	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01975.hp2 NA18966.hp1 NA19090.hp1 HG01975.hp2 NA18966.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0106 a0001c0001t0113 a0001c0001t0118 a0001c0001t0106 a0001c0001t0113 a0001c0001t0118	a0001c0001t0106g0000 a0001c0001t0113g0000 a0001c0001t0118g0000 a0001c0001t0106g0000 a0001c0001t0113g0000 a0001c0001t0118g0000	3	430	0.0070	24	c.60 others(35): Show c.6046_*6069dupAAAAAAAAAAAAAAAAAAAAAAAA	FEM1A	ENSG00000141965.5	transcript	ENST00000269856.5	protein_coding	1/1	6070	INFO_REALIGN_3_PRIME	chr19	TogoVar
FER1L5_chr2_96637764_96709883	96656125	C C	CCTTCACC others(17): Show CCTTCACCGCTGGATTATTTTGAAT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0130 a0007c0007t0001g0130	1	226	0.0044	24	c.747 others(41): Show c.747+1631_747+1654dupTTCACCGCTGGATTATTTTGAATC	FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	9/52		INFO_REALIGN_3_PRIME	chr2	TogoVar
FER1L5_chr2_96637764_96709883	96658293	T T	TGCGTGAG others(17): Show TGCGTGAGCCAACGCACCTGGCCAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0170 a0001c0004t0001g0170	1	226	0.0044	24	c.748 others(41): Show c.748-2047_748-2024dupGCGTGAGCCAACGCACCTGGCCAA	FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	9/52		INFO_REALIGN_3_PRIME	chr2	TogoVar
FER1L6_chr8_123846987_124125061	123856316	G G	GTATGTAT others(17): Show GTATGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	196	0.0051	24	c.-8+ others(39): Show c.-8+4134_-8+4135insGTATATATATATATATATATATAT	FER1L6	ENSG00000214814.7	transcript	ENST00000522917.5	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr8	TogoVar
FER1L6_chr8_123846987_124125061	123856316	G G	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0002 a0002c0010t0002	a0002c0010t0002g0038 a0002c0010t0002g0038	1	196	0.0051	24	c.-8+ others(39): Show c.-8+4132_-8+4133insGTATATATATATATATATATATAT	FER1L6	ENSG00000214814.7	transcript	ENST00000522917.5	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr8	TogoVar
FER1L6_chr8_123846987_124125061	123856316	G G	GTGTGTGT others(17): Show GTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01256.hp2 HG02293.hp2 HG00738.hp2 HG01256.hp2 HG02293.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0001c0005 a0003c0013 a0001c0004 a0001c0005 a0003c0013	a0001c0004t0002 a0001c0005t0002 a0003c0013t0002 a0001c0004t0002 a0001c0005t0002 a0003c0013t0002	a0001c0004t0002g0131 a0001c0005t0002g0141 a0003c0013t0002g0183 a0001c0004t0002g0131 a0001c0005t0002g0141 a0003c0013t0002g0183	3	196	0.0153	24	c.-8+ others(39): Show c.-8+4132_-8+4133insGTGTGTATATATATATATATATAT	FER1L6	ENSG00000214814.7	transcript	ENST00000522917.5	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr8	TogoVar
FER1L6_chr8_123846987_124125061	123974659	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0049 a0002c0003t0002g0049	1	196	0.0051	24	c.527 others(39): Show c.527-468_527-467insAAAAAAAAAAAAAAAAAAAAAAAA	FER1L6	ENSG00000214814.7	transcript	ENST00000522917.5	protein_coding	7/40		INFO_REALIGN_3_PRIME	chr8	TogoVar
FERD3L_chr7_19139782_19150421	19147724	T T	TTTTCTTT others(17): Show TTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	470	0.0021	24	c.-23 others(35): Show c.-2363_-2362insGAAAGAAAGAAAGAAAGAAAGAAA	FERD3L	ENSG00000146618.3	transcript	ENST00000275461.3	protein_coding		2304		chr7	TogoVar
FERMT2_chr14_52852273_52956050	52902868	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02040.hp1 HG01099.hp2 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0272 a0001c0001t0001g0150 a0001c0001t0001g0272	2	288	0.0069	24	c.392 others(41): Show c.392-9442_392-9441insTTTTTTTTTTTTTTTTTTTTTTTT	FERMT2	ENSG00000073712.15	transcript	ENST00000341590.8	protein_coding	3/14			chr14	TogoVar
FERMT2_chr14_52852273_52956050	52913680	C C	CAGTAGTA others(17): Show CAGTAGTAGTAGTAGTAGTAGTAGT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03041.hp1 HG03654.hp2 others(2): Show HG02895.hp1 HG03041.hp1 HG03654.hp2 NA18906.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 others(2): Show a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0002t0002g0112 a0001c0002t0002g0184	5	288	0.0174	24	c.391 others(41): Show c.391+5419_391+5442dupACTACTACTACTACTACTACTACT	FERMT2	ENSG00000073712.15	transcript	ENST00000341590.8	protein_coding	3/14			chr14	TogoVar
FER_chr5_108742897_109201841	108859920	C C	CTATTATT others(17): Show CTATTATTATTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18969.hp1 NA18961.hp1 NA18969.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0003 a0001c0001t0001 a0002c0003t0003	a0001c0001t0001g0060 a0002c0003t0003g0064 a0001c0001t0001g0060 a0002c0003t0003g0064	2	138	0.0145	24	c.482 others(41): Show c.482-7833_482-7810dupATTATTATTATTATTATTATTATT	FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
FER_chr5_108742897_109201841	108879697	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0003 a0001c0006t0002g0003	1	138	0.0073	24	c.924 others(41): Show c.924-3698_924-3697insTATATATATATATATATATATATA	FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
FER_chr5_108742897_109201841	108927252	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0002 a0001c0017t0002	a0001c0017t0002g0109 a0001c0017t0002g0109	1	138	0.0073	24	c.123 others(45): Show c.1237-18859_1237-18858insTTTTTTTTTTTTTTTTTTTTTTTT	FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
FER_chr5_108742897_109201841	108944850	A A	AAGAACCT others(17): Show AAGAACCTATCTATAAAGAATCTAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01099.hp2 HG01358.hp1 others(17): Show HG00735.hp2 HG01099.hp2 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01884.hp2 HG01891.hp1 HG02109.hp1 HG02258.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02735.hp1 HG02886.hp1 HG02922.hp1 HG02965.hp2 HG03017.hp2 HG03098.hp1 HG04204.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0001c0007	a0001c0001t0007 a0001c0004t0006 a0001c0004t0009 others(11): Show a0001c0001t0007 a0001c0004t0006 a0001c0004t0009 a0001c0004t0023 a0001c0005t0001 a0001c0005t0002 a0001c0005t0004 a0001c0005t0010 a0001c0005t0016 a0001c0007t0002 a0001c0007t0004 a0001c0007t0015 a0001c0007t0039 a0001c0007t0050	a0001c0001t0007g0011 a0001c0001t0007g0012 a0001c0004t0006g0049 others(17): Show a0001c0001t0007g0011 a0001c0001t0007g0012 a0001c0004t0006g0049 a0001c0004t0006g0078 a0001c0004t0006g0079 a0001c0004t0006g0080 a0001c0004t0009g0117 a0001c0004t0023g0083 a0001c0005t0001g0101 a0001c0005t0002g0099 a0001c0005t0004g0038 a0001c0005t0004g0075 a0001c0005t0010g0024 a0001c0005t0016g0039 a0001c0007t0002g0132 a0001c0007t0004g0138 a0001c0007t0015g0123 a0001c0007t0015g0127 a0001c0007t0039g0131 a0001c0007t0050g0129	20	138	0.1449	24	c.123 others(43): Show c.1237-1279_1237-1278insGAACCTATCTATAAAGAATCTATA	FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
FER_chr5_108742897_109201841	109062022	T T	TTTGCTTG others(17): Show TTTGCTTGCTTGCTTGCTTGCTTGC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00733.hp1 HG01358.hp2 others(16): Show HG00140.hp2 HG00733.hp1 HG01358.hp2 HG02738.hp2 HG02922.hp2 HG03491.hp2 HG03516.hp2 NA18941.hp2 NA18952.hp1 NA18953.hp1 NA18961.hp1 NA18990.hp1 NA18991.hp1 NA19001.hp2 NA19004.hp1 NA19056.hp1 NA19077.hp2 NA19080.hp2 NA19082.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0005c0014	a0001c0001t0002 a0001c0001t0028 a0001c0002t0041 others(5): Show a0001c0001t0002 a0001c0001t0028 a0001c0002t0041 a0002c0003t0003 a0002c0003t0042 a0002c0003t0045 a0002c0003t0051 a0005c0014t0003	a0001c0001t0002g0092 a0001c0001t0028g0091 a0001c0002t0041g0126 others(16): Show a0001c0001t0002g0092 a0001c0001t0028g0091 a0001c0002t0041g0126 a0002c0003t0003g0013 a0002c0003t0003g0015 a0002c0003t0003g0036 a0002c0003t0003g0059 a0002c0003t0003g0062 a0002c0003t0003g0064 a0002c0003t0003g0065 a0002c0003t0003g0066 a0002c0003t0003g0068 a0002c0003t0003g0070 a0002c0003t0003g0072 a0002c0003t0003g0076 a0002c0003t0042g0063 a0002c0003t0045g0061 a0002c0003t0051g0016 a0005c0014t0003g0069	19	138	0.1377	24	c.192 others(45): Show c.1924+14831_1924+14854dupGCTTGCTTGCTTGCTTGCTTGCTT	FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	16/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
FER_chr5_108742897_109201841	109146253	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	138	0.0073	24	c.204 others(45): Show c.2049-34479_2049-34456dupATATATATATATATATATATATAT	FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
FEZ1_chr11_125437881_125501265	125449441	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18963.hp1 NA18970.hp2 others(6): Show NA18949.hp1 NA18963.hp1 NA18970.hp2 NA18972.hp2 NA18997.hp1 NA19006.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0011 a0001c0001 a0006c0011	a0001c0001t0003 a0006c0011t0003 a0001c0001t0003 a0006c0011t0003	a0001c0001t0003g0017 a0001c0001t0003g0025 a0001c0001t0003g0028 others(6): Show a0001c0001t0003g0017 a0001c0001t0003g0025 a0001c0001t0003g0028 a0001c0001t0003g0048 a0001c0001t0003g0050 a0001c0001t0003g0063 a0001c0001t0003g0087 a0001c0001t0003g0089 a0006c0011t0003g0043	9	356	0.0253	24	c.109 others(41): Show c.1097-875_1097-874insCTTTTTTTTTTTTTTTTTTTTTTT	FEZ1	ENSG00000149557.14	transcript	ENST00000278919.8	protein_coding	8/9			chr11	TogoVar
FEZ1_chr11_125437881_125501265	125493417	A A	AGAAAGAA others(17): Show AGAAAGAAAGAAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA18946.hp2 NA19056.hp2 HG04204.hp2 NA18946.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 a0001c0001t0002 a0001c0001t0003 a0001c0001t0018	a0001c0001t0002g0294 a0001c0001t0003g0023 a0001c0001t0018g0073 a0001c0001t0002g0294 a0001c0001t0003g0023 a0001c0001t0018g0073	3	356	0.0084	24	c.-46 others(41): Show c.-46+2703_-46+2704insCTTCTTTCTTTCTTTCTTTCTTTC	FEZ1	ENSG00000149557.14	transcript	ENST00000278919.8	protein_coding	1/9			chr11	TogoVar
FEZ1_chr11_125437881_125501265	125493417	A A	AGAAAGAA others(17): Show AGAAAGAAAGAAAGAAGGAAAGAAG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0022 a0001c0001t0003g0022	1	356	0.0028	24	c.-46 others(41): Show c.-46+2703_-46+2704insCTTCTTTCCTTCTTTCTTTCTTTC	FEZ1	ENSG00000149557.14	transcript	ENST00000278919.8	protein_coding	1/9			chr11	TogoVar
FEZ1_chr11_125437881_125501265	125493489	G G	GGAAAGAA others(17): Show GGAAAGAAGGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0272 a0001c0001t0002g0272	1	356	0.0028	24	c.-46 others(41): Show c.-46+2631_-46+2632insTTTCTTTCTTTCTTTCCTTCTTTC	FEZ1	ENSG00000149557.14	transcript	ENST00000278919.8	protein_coding	1/9			chr11	TogoVar
FEZ1_chr11_125437881_125501265	125498188	T T	TATATACG others(17): Show TATATACGTCTCATATAGATGTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01433.hp2 HG03516.hp2 HG00642.hp1 HG01433.hp2 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0003g0320 a0001c0001t0003g0321 a0002c0002t0001g0103 a0001c0001t0003g0320 a0001c0001t0003g0321 a0002c0002t0001g0103	3	356	0.0084	24	c.-21 others(35): Show c.-2114_-2113insGGGACATCTATATGAGACGTATAT	FEZ1	ENSG00000149557.14	transcript	ENST00000278919.8	protein_coding		1924		chr11	TogoVar
FEZ1_chr11_125437881_125501265	125498547	G G	GTGTGTAT others(17): Show GTGTGTATATATATATGTGTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG02145.hp2 HG02486.hp1 others(10): Show HG01109.hp2 HG02145.hp2 HG02486.hp1 HG02615.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG03041.hp1 HG03195.hp1 HG03540.hp2 HG03579.hp1 NA18522.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0319 a0001c0001t0005g0326 a0001c0001t0005g0327 others(10): Show a0001c0001t0005g0319 a0001c0001t0005g0326 a0001c0001t0005g0327 a0001c0001t0005g0328 a0001c0001t0005g0329 a0001c0001t0005g0330 a0001c0001t0005g0331 a0001c0001t0005g0332 a0001c0001t0005g0336 a0001c0001t0005g0337 a0001c0001t0005g0338 a0001c0001t0005g0339 a0001c0001t0005g0340	13	356	0.0365	24	c.-24 others(35): Show c.-2496_-2473dupTATATACACATATATATATACACA	FEZ1	ENSG00000149557.14	transcript	ENST00000278919.8	protein_coding		2283		chr11	TogoVar
FEZF1_chr7_122296303_122309750	122303536	A A	AGGAAGGA others(17): Show AGGAAGGAAGGAAGGAAGGAGGGAG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	436	0.0023	24	c.801 others(39): Show c.801+100_801+101insCTCCCTCCTTCCTTCCTTCCTTCC	FEZF1	ENSG00000128610.12	transcript	ENST00000442488.7	protein_coding	1/3			chr7	TogoVar
FGA_chr4_154580275_154595742	154587745	G G	GAGAAAGA others(17): Show GAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0093 a0002c0002t0001g0093	1	428	0.0023	24	c.365 others(38): Show c.365-112_365-89dupTTCTTTCTTTCTTTCTTTCTTTCT	FGA	ENSG00000171560.18	transcript	ENST00000403106.8	protein_coding	3/4			chr4	TogoVar
FGD1_chrX_54440454_54501234	54482236	G G	GCGCGCGC others(17): Show GCGCGCGCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	264	0.0038	24	c.308 others(43): Show c.308-10750_308-10749insTGTGTGTGTGTGTGTGTGCGCGCG	FGD1	ENSG00000102302.8	transcript	ENST00000375135.4	protein_coding	1/17			chrX	TogoVar
FGD2_chr6_37000655_37034069	37028615	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02258.hp1 HG02622.hp2 HG02258.hp1 HG02622.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0023 a0001c0012t0023	a0001c0012t0023g0012 a0001c0012t0023g0012	2	430	0.0047	24	c.46 others(33): Show c.469_*470insTTTTTTTTTTTTTTTTTTTTTTTT	FGD2	ENSG00000146192.15	transcript	ENST00000274963.13	protein_coding	16/16	470	INFO_REALIGN_3_PRIME	chr6	TogoVar
FGD4_chr12_32394558_32651050	32435498	A A	AGTGTGTG others(17): Show AGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0007 a0002c0007t0007	a0002c0007t0007g0185 a0002c0007t0007g0185	1	232	0.0043	24	c.166 others(43): Show c.166+35559_166+35560insGTGTGTGTGTGTGTGTGTGTGTGT	FGD4	ENSG00000139132.16	transcript	ENST00000534526.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
FGD4_chr12_32394558_32651050	32495695	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03540.hp2 HG02109.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0027 a0001c0002 a0001c0027	a0001c0002t0023 a0001c0027t0040 a0001c0002t0023 a0001c0027t0040	a0001c0002t0023g0138 a0001c0027t0040g0132 a0001c0002t0023g0138 a0001c0027t0040g0132	2	232	0.0086	24	c.167 others(43): Show c.167-68425_167-68424insAAAAAAAAAAAAAAAAAAAAAAAA	FGD4	ENSG00000139132.16	transcript	ENST00000534526.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
FGD4_chr12_32394558_32651050	32599494	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp2 HG02300.hp1 others(7): Show HG01123.hp1 HG01123.hp2 HG02300.hp1 HG03453.hp2 HG03492.hp1 HG03688.hp2 HG03834.hp2 HG03927.hp1 NA19043.hp1 NA19240.hp1	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0011	a0001c0004 a0002c0006 a0009c0012 others(1): Show a0001c0004 a0002c0006 a0009c0012 a0011c0023	a0001c0004t0002 a0001c0004t0014 a0001c0004t0050 others(6): Show a0001c0004t0002 a0001c0004t0014 a0001c0004t0050 a0001c0004t0051 a0001c0004t0068 a0002c0006t0008 a0002c0006t0037 a0009c0012t0007 a0011c0023t0059	a0001c0004t0002g0025 a0001c0004t0014g0099 a0001c0004t0050g0117 others(7): Show a0001c0004t0002g0025 a0001c0004t0014g0099 a0001c0004t0050g0117 a0001c0004t0051g0121 a0001c0004t0068g0006 a0002c0006t0008g0190 a0002c0006t0008g0213 a0002c0006t0037g0206 a0009c0012t0007g0156 a0011c0023t0059g0100	10	232	0.0431	24	c.110 others(41): Show c.1101+922_1101+923insAAAAAAAAAAAAAAAAAAAAAAAA	FGD4	ENSG00000139132.16	transcript	ENST00000534526.7	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr12	TogoVar

Search by Variant

Search

Search Results