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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
FRYL_chr4_48492357_48785279	48645124	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02155.hp2 HG02615.hp1 others(5): Show HG00099.hp1 HG02155.hp2 HG02615.hp1 HG03195.hp2 HG03710.hp1 NA18970.hp1 NA18973.hp2 NA19064.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0002c0004t0001	a0001c0001t0001g0136 a0001c0001t0001g0166 a0001c0001t0001g0184 others(5): Show a0001c0001t0001g0136 a0001c0001t0001g0166 a0001c0001t0001g0184 a0001c0001t0001g0200 a0001c0001t0002g0261 a0001c0001t0002g0279 a0001c0001t0007g0167 a0002c0004t0001g0215	8	282	0.0284	34	c.-80 others(53): Show c.-80-10635_-80-10634insTATATATATATATATATATATATATA TATATATA	FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	3/63			chr4	TogoVar
FSCN2_chr17_81523377_81542130	81536556	C C	CACCCCGC others(27): Show CACCCCGCCCGGCCTGGACAGGGAAGGTGGCGGGA	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	432	0.0023	34	c.110 others(49): Show c.1106-65_1106-32dupACCCCGCCCGGCCTGGACAGGGAAGGTGGC GGGA	FSCN2	ENSG00000186765.12	transcript	ENST00000417245.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr17	TogoVar
FSD1L_chr9_105443034_105557433	105533416	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0123 a0001c0001t0004g0123	1	380	0.0026	34	c.102 others(53): Show c.1026-1053_1026-1052insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	FSD1L	ENSG00000106701.13	transcript	ENST00000481272.6	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
FSHR_chr2_48957157_49159515	49021863	C C	CTCTCTAT others(27): Show CTCTCTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0322 a0001c0001t0001g0322	1	350	0.0029	34	c.225 others(51): Show c.225-1704_225-1703insTATATATATATATATATATATATATATA TAGAGA	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	2/9			chr2	TogoVar
FSHR_chr2_48957157_49159515	49021863	C C	CTCTCTCT others(27): Show CTCTCTCTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	350	0.0029	34	c.225 others(51): Show c.225-1704_225-1703insTATATATATATATATATATATATATATA GAGAGA	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	2/9			chr2	TogoVar
FSHR_chr2_48957157_49159515	49021863	C C	CTCTCTCT others(27): Show CTCTCTCTCTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0127 a0001c0001t0002g0127	1	350	0.0029	34	c.225 others(51): Show c.225-1704_225-1703insTATATATATATATATATATATATATAGA GAGAGA	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	2/9			chr2	TogoVar
FSHR_chr2_48957157_49159515	49021863	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	350	0.0029	34	c.225 others(51): Show c.225-1704_225-1703insTATATATATATATATATATAGAGAGAGA GAGAGA	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	2/9			chr2	TogoVar
FSHR_chr2_48957157_49159515	49021863	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 NA18955.hp2 HG00280.hp2 NA18955.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0004 a0002c0002t0002 a0002c0002t0004	a0002c0002t0002g0052 a0002c0002t0004g0085 a0002c0002t0002g0052 a0002c0002t0004g0085	2	350	0.0057	34	c.225 others(51): Show c.225-1704_225-1703insTATATATATATATATATAGAGAGAGAGA GAGAGA	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	2/9			chr2	TogoVar
FSHR_chr2_48957157_49159515	49021863	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA18962.hp1 HG03130.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0194 a0001c0001t0002g0074 a0001c0001t0001g0194 a0001c0001t0002g0074	2	350	0.0057	34	c.225 others(51): Show c.225-1704_225-1703insTATATATATATATATAGAGAGAGAGAGA GAGAGA	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	2/9			chr2	TogoVar
FSHR_chr2_48957157_49159515	49021886	T T	TATATATA others(27): Show TATATATATATATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	350	0.0029	34	c.225 others(51): Show c.225-1727_225-1726insCTCTCTCTCTCTCTCTATATATATATAT ATATAT	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	2/9			chr2	TogoVar
FSHR_chr2_48957157_49159515	49021886	T T	TATATATA others(27): Show TATATATATATATATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0107 a0002c0002t0002g0107	1	350	0.0029	34	c.225 others(51): Show c.225-1727_225-1726insCTCTCTCTCTCTATATATATATATATAT ATATAT	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	2/9			chr2	TogoVar
FSHR_chr2_48957157_49159515	49021886	T T	TATATATA others(27): Show TATATATATATATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA19091.hp1 NA18941.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0078 a0001c0001t0002g0065 a0001c0001t0002g0078	2	350	0.0057	34	c.225 others(51): Show c.225-1727_225-1726insCTCTCTCTCTATATATATATATATATAT ATATAT	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	2/9			chr2	TogoVar
FSHR_chr2_48957157_49159515	49021886	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	350	0.0029	34	c.225 others(51): Show c.225-1727_225-1726insCTCTCTATATATATATATATATATATAT ATATAT	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	2/9			chr2	TogoVar
FSHR_chr2_48957157_49159515	49049824	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	350	0.0029	34	c.224 others(53): Show c.224+18394_224+18395insATATATATATATATATATATATATAT ATATATAT	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	2/9			chr2	TogoVar
FSTL4_chr5_133191455_133617541	133375291	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01346.hp1 HG01346.hp2 others(5): Show HG00639.hp2 HG01346.hp1 HG01346.hp2 HG01515.hp1 HG03139.hp1 NA18612.hp2 NA18999.hp1 NA19009.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0008 a0001c0001 a0002c0002 a0003c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0002c0002t0002 a0003c0008t0002	a0001c0001t0001g0116 a0001c0001t0003g0147 a0001c0001t0004g0038 others(5): Show a0001c0001t0001g0116 a0001c0001t0003g0147 a0001c0001t0004g0038 a0001c0001t0004g0087 a0002c0002t0002g0043 a0002c0002t0002g0064 a0002c0002t0002g0083 a0003c0008t0002g0086	8	176	0.0455	34	c.409 others(53): Show c.409+25446_409+25447insATATATATATATATATATATATATAT ATATATAT	FSTL4	ENSG00000053108.18	transcript	ENST00000265342.12	protein_coding	4/15			chr5	TogoVar
FSTL4_chr5_133191455_133617541	133517447	A A	AAAAAAAA others(27): Show AAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	176	0.0057	34	c.160 others(53): Show c.160+49738_160+49739insATATATATATATATATATATATATAT TTTTTTTT	FSTL4	ENSG00000053108.18	transcript	ENST00000265342.12	protein_coding	3/15			chr5	TogoVar
FSTL4_chr5_133191455_133617541	133517447	A A	AAAAAAAA others(27): Show AAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG03209.hp2 HG02040.hp1 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0160 a0002c0002t0002g0007 a0001c0001t0001g0160 a0002c0002t0002g0007	2	176	0.0114	34	c.160 others(53): Show c.160+49738_160+49739insATATATATATATATATATATATATAT ATTTTTTT	FSTL4	ENSG00000053108.18	transcript	ENST00000265342.12	protein_coding	3/15			chr5	TogoVar
FSTL4_chr5_133191455_133617541	133517447	A A	AAAAAATA others(27): Show AAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0012 a0012	a0012c0011 a0012c0011	a0012c0011t0001 a0012c0011t0001	a0012c0011t0001g0138 a0012c0011t0001g0138	1	176	0.0057	34	c.160 others(53): Show c.160+49738_160+49739insATATATATATATATATATATATATAT ATATTTTT	FSTL4	ENSG00000053108.18	transcript	ENST00000265342.12	protein_coding	3/15			chr5	TogoVar
FST_chr5_53475629_53492134	53476035	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	462	0.0022	34	c.-47 others(45): Show c.-4757_-4756insTATATATATATATATATATATATATATATATATA	FST	ENSG00000134363.12	transcript	ENST00000256759.8	protein_coding		4593		chr5	TogoVar
FST_chr5_53475629_53492134	53476035	T T	TTTTATAT others(27): Show TTTTATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 NA19072.hp2 HG00597.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	2	462	0.0043	34	c.-47 others(45): Show c.-4757_-4756insTTTATATATATATATATATATATATATATATATA	FST	ENSG00000134363.12	transcript	ENST00000256759.8	protein_coding		4593		chr5	TogoVar
FTHL17_chrX_31066233_31077041	31066832	T T	TATGTGTA others(27): Show TATGTGTATATACACACACGTGTATATACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01175.hp2 HG01361.hp1 others(5): Show HG00741.hp2 HG01175.hp2 HG01361.hp1 HG01361.hp2 HG02735.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	8	336	0.0238	34	c.45 others(45): Show c.4569_*4570insGTGTGTGTATATACACGTGTGTGTATATACACAT	FTHL17	ENSG00000132446.7	transcript	ENST00000359202.5	protein_coding		4400		chrX	TogoVar
FTO_chr16_53699156_54126941	53950155	T T	TAAAAAAA others(27): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03710.hp2 HG01261.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0097 a0001c0001t0005g0050 a0001c0001t0001g0097 a0001c0001t0005g0050	2	194	0.0103	34	c.136 others(55): Show c.1364+16070_1364+16071insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	FTO	ENSG00000140718.22	transcript	ENST00000471389.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
FUT8_chr14_65407730_65749121	65433786	T T	TTCTCTCT others(27): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03834.hp2 NA18949.hp2 HG03831.hp2 HG03834.hp2 NA18949.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0229 a0002c0004t0001g0254 a0002c0004t0001g0271 a0002c0004t0001g0229 a0002c0004t0001g0254 a0002c0004t0001g0271	3	374	0.0080	34	c.-32 others(55): Show c.-326+20604_-326+20605insTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTC	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65677162	A A	ACGTGTGT others(27): Show ACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA19240.hp2 HG02970.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0217 a0001c0001t0009g0218 a0001c0001t0009g0217 a0001c0001t0009g0218	2	374	0.0054	34	c.835 others(51): Show c.835+7682_835+7683insCGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTG	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	7/10			chr14	TogoVar
FXN_chr9_69030752_69084076	69037284	A A	AAAAGAAG others(27): Show AAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02300.hp2 HG02615.hp2 others(1): Show HG02055.hp1 HG02300.hp2 HG02615.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0350 a0001c0001t0006g0351 a0001c0001t0006g0352 others(1): Show a0001c0001t0006g0350 a0001c0001t0006g0351 a0001c0001t0006g0352 a0001c0001t0006g0353	4	432	0.0093	34	c.165 others(51): Show c.165+1339_165+1340insAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAA	FXN	ENSG00000165060.15	transcript	ENST00000484259.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
FXR2_chr17_7586230_7619897	7610015	T T	TACATGTA others(27): Show TACATGTATATGTATACATGTATGTATATATATAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	426	0.0024	34	c.82- others(49): Show c.82-3900_82-3867dupGTATATATATACATACATGTATACATATAC ATGT	FXR2	ENSG00000129245.13	transcript	ENST00000250113.12	protein_coding	1/16			chr17	TogoVar
FXYD4_chr10_43366636_43381335	43367417	C C	CTATATAT others(27): Show CTATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 NA18982.hp2 NA19062.hp2 HG02602.hp2 NA18982.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	3	426	0.0070	34	c.-45 others(45): Show c.-4559_-4558insTATATATATATATATATATATATATATATATATA	FXYD4	ENSG00000150201.15	transcript	ENST00000476166.6	protein_coding		4218		chr10	TogoVar
FXYD4_chr10_43366636_43381335	43367433	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	426	0.0024	34	c.-45 others(45): Show c.-4543_-4542insTATATATATATATATATATATATATATATATATG	FXYD4	ENSG00000150201.15	transcript	ENST00000476166.6	protein_coding		4202		chr10	TogoVar
FXYD5_chr19_35149735_35174881	35161221	A A	AACACACA others(27): Show AACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01255.hp1 others(4): Show HG01069.hp2 HG01071.hp1 HG01255.hp1 HG01261.hp1 HG01981.hp1 HG02293.hp1 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0003g0022 a0001c0001t0003g0040 a0002c0002t0001g0087 a0001c0001t0003g0022 a0001c0001t0003g0040 a0002c0002t0001g0087	7	462	0.0152	34	c.292 others(49): Show c.292+447_292+448insCACACACACACACACACACACACACACACA CACA	FXYD5	ENSG00000089327.15	transcript	ENST00000392219.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
FYB1_chr5_39100252_39224563	39148153	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	326	0.0031	34	c.129 others(53): Show c.1292+5294_1292+5295insTATATATATATATATATATATATATA TATATATA	FYB1	ENSG00000082074.19	transcript	ENST00000512982.4	protein_coding	3/18			chr5	TogoVar
FYB1_chr5_39100252_39224563	39185611	T T	TATATATA others(27): Show TATATATATACATATATATACATATATATACACAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0015 a0015	a0015c0021 a0015c0021	a0015c0021t0007 a0015c0021t0007	a0015c0021t0007g0171 a0015c0021t0007g0171	1	326	0.0031	34	c.113 others(55): Show c.1135+16214_1135+16215insGTGTGTATATATATGTATATATAT GTATATATAT	FYB1	ENSG00000082074.19	transcript	ENST00000512982.4	protein_coding	2/18			chr5	TogoVar
FYTTD1_chr3_197744883_197792596	197792575	T T	TATATATA others(27): Show TATATATATATAATTATATATATATATATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0006	1	256	0.0039	34	c.10 others(47): Show c.10666_*10667insATATATATATAATTATATATATATATATATAT AA	FYTTD1	ENSG00000122068.13	transcript	ENST00000241502.9	protein_coding		4980		chr3	TogoVar
FYTTD1_chr3_197744883_197792596	197792577	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00738.hp1 HG00738.hp2 others(17): Show HG00423.hp2 HG00738.hp1 HG00738.hp2 HG01106.hp1 HG01169.hp1 HG01261.hp1 HG01261.hp2 HG02132.hp2 HG03041.hp1 HG03041.hp2 HG03688.hp2 HG04115.hp1 HG04115.hp2 NA18747.hp1 NA18986.hp1 NA19058.hp1 NA19068.hp1 NA19068.hp2 NA20300.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0039 a0001c0001t0051	a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 others(16): Show a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0073 a0001c0001t0001g0115 a0001c0001t0001g0125 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0153 a0001c0001t0001g0211 a0001c0001t0001g0221 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0006g0130 a0001c0001t0009g0133 a0001c0001t0009g0215 a0001c0001t0039g0165 a0001c0001t0051g0182	20	256	0.0781	34	c.10 others(47): Show c.10668_*10669insTATATATATATATATATATATATATATATATA TA	FYTTD1	ENSG00000122068.13	transcript	ENST00000241502.9	protein_coding		4982		chr3	TogoVar
FZD6_chr8_103293898_103337866	103328605	T T	TTGACATA others(27): Show TTGACATATACTATTTATCATATAGTATATGTCTG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	366	0.0027	34	c.154 others(51): Show c.1541+204_1541+237dupTATCATATAGTATATGTCTGTGACATAT ACTATT	FZD6	ENSG00000164930.12	transcript	ENST00000358755.5	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
G3BP2_chr4_75637786_75678411	75643295	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp1 HG01993.hp2 HG02109.hp1 others(3): Show HG00544.hp1 HG01993.hp2 HG02109.hp1 HG03139.hp1 NA18997.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0020 a0001c0001t0017 a0001c0001t0020	a0001c0001t0017g0060 a0001c0001t0017g0079 a0001c0001t0017g0083 others(3): Show a0001c0001t0017g0060 a0001c0001t0017g0079 a0001c0001t0017g0083 a0001c0001t0020g0093 a0001c0001t0020g0103 a0001c0001t0020g0105	6	330	0.0182	34	c.21 others(45): Show c.2134_*2135insTATATATATATATATATATATATATATATATATA	G3BP2	ENSG00000138757.15	transcript	ENST00000359707.9	protein_coding	12/12	2134		chr4	TogoVar
GAB1_chr4_143331876_143479565	143373864	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01891.hp2 HG00738.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0029 a0001c0001t0003g0025 a0001c0001t0002g0029 a0001c0001t0003g0025	2	194	0.0103	34	c.72+ others(51): Show c.72+36607_72+36608insTATATATATATATATATATATATATATA TATATA	GAB1	ENSG00000109458.10	transcript	ENST00000262994.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
GAB1_chr4_143331876_143479565	143373868	A A	AATAAATA others(27): Show AATAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0175 a0001c0001t0009g0175	1	194	0.0052	34	c.72+ others(51): Show c.72+36611_72+36612insAATATATATATATATATATATATATATA TATATA	GAB1	ENSG00000109458.10	transcript	ENST00000262994.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
GAB2_chr11_78210293_78422820	78398021	T T	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0134 a0001c0003t0004g0134	1	288	0.0035	34	c.75+ others(51): Show c.75+19624_75+19625insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding	1/9			chr11	TogoVar
GABBR2_chr9_98283109_98713935	98436288	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATCCATAA	intron_variant intron_variant	MODIFIER	HG02683.hp1 NA18982.hp2 HG02683.hp1 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0009 a0001c0001t0009 a0001c0002t0009	a0001c0001t0009g0115 a0001c0002t0009g0095 a0001c0001t0009g0115 a0001c0002t0009g0095	2	164	0.0122	34	c.123 others(55): Show c.1236+17692_1236+17693insTTATGGATATATATATATATATAT ATATATATAT	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	7/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98648116	T T	TGTGTGTG others(27): Show TGTGTGTGTGTGTGTGTGTGTGTATAGATAGATAG	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0087 a0001c0003t0001g0087	1	164	0.0061	34	c.321 others(53): Show c.321+60300_321+60301insCTATCTATCTATACACACACACACAC ACACACAC	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	1/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98648116	T T	TGTGTGTG others(27): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTATAGATAG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0016 a0001c0007t0016	a0001c0007t0016g0018 a0001c0007t0016g0018	1	164	0.0061	34	c.321 others(53): Show c.321+60300_321+60301insCTATCTATACACACACACACACACAC ACACACAC	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	1/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98688394	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0022 a0002c0022	a0002c0022t0029 a0002c0022t0029	a0002c0022t0029g0060 a0002c0022t0029g0060	1	164	0.0061	34	c.321 others(53): Show c.321+20022_321+20023insATATATATATATATATATATATATAT ATATATAT	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	1/18			chr9	TogoVar
GABPB1_chr15_50270389_50360198	50309974	A A	ATTTTAGA others(27): Show ATTTTAGATTTTAGATTTTAGATTTATATTTGGAT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0280 a0001c0001t0004g0280	1	366	0.0027	34	c.1-1 others(45): Show c.1-177_1-176insATCCAAATATAAATCTAAAATCTAAAATCTAAAA	GABPB1	ENSG00000104064.18	transcript	ENST00000380877.8	protein_coding	1/8			chr15	TogoVar
GABPB1_chr15_50270389_50360198	50337075	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0247 a0001c0001t0006g0247	1	366	0.0027	34	c.-1+ others(51): Show c.-1+17876_-1+17909dupTATATATATATATATATATATATATATA TATATA	GABPB1	ENSG00000104064.18	transcript	ENST00000380877.8	protein_coding	1/8			chr15	TogoVar
GABRA2_chr4_46238548_46395128	46264986	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03579.hp2 NA21309.hp2 HG02257.hp2 HG03579.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0095 a0001c0001t0136 a0001c0001t0025 a0001c0001t0095 a0001c0001t0136	a0001c0001t0025g0121 a0001c0001t0095g0081 a0001c0001t0136g0153 a0001c0001t0025g0121 a0001c0001t0095g0081 a0001c0001t0136g0153	3	258	0.0116	34	c.857 others(51): Show c.857-2859_857-2858insATATATATATATATATATATATATATAT ATATAT	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	8/9			chr4	TogoVar
GABRA3_chrX_152161234_152456315	152231142	T T	TAGATATA others(27): Show TAGATATATACACACATATATGTATATATACACAC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0042 a0001c0001t0004g0042	1	204	0.0049	34	c.552 others(51): Show c.552-6298_552-6297insGTGTGTATATATACATATATGTGTGTAT ATATCT	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	5/9			chrX	TogoVar
GABRB1_chr4_47026567_47431447	47333085	A A	AAAATATA others(27): Show AAAATATATACATATTTTTATATTCATATATTTAT	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	158	0.0063	34	c.544 others(53): Show c.544+12885_544+12918dupACATATTTTTATATTCATATATTTAT AAATATAT	GABRB1	ENSG00000163288.14	transcript	ENST00000295454.8	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
GABRB3_chr15_26538552_26778066	26554021	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0042 a0001c0001t0031g0042	1	204	0.0049	34	c.108 others(53): Show c.1081-5888_1081-5887insTATATATATATATATATATATATATA TATATATA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26554021	T T	TTTTATAT others(27): Show TTTTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03516.hp1 HG02970.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0057 a0001c0001t0018g0147 a0001c0001t0018g0057 a0001c0001t0018g0147	2	204	0.0098	34	c.108 others(53): Show c.1081-5888_1081-5887insTATATATATATATATATATATATATA TATATAAA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26554039	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01258.hp2 HG02486.hp1 others(2): Show HG00673.hp2 HG01258.hp2 HG02486.hp1 HG02559.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0044 a0001c0001t0002g0088 a0001c0001t0002g0124 others(2): Show a0001c0001t0002g0044 a0001c0001t0002g0088 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0003g0115	5	204	0.0245	34	c.108 others(53): Show c.1081-5906_1081-5905insAATATATATATATATATATATATATA TATATATA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar

Search by Variant

Search

Search Results (Total: 7994 hits)