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
SH3GL2_chr9_17574066_17802124	17796492	T T	TTAAATTT others(24): Show TTAAATTTCTTGCTATACAGAAACTATGTATG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03017.hp1 HG03942.hp1 HG04184.hp1 others(1): Show HG03017.hp1 HG03942.hp1 HG04184.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0096 a0001c0001t0007g0143 a0001c0001t0007g0165 others(1): Show a0001c0001t0007g0096 a0001c0001t0007g0143 a0001c0001t0007g0165 a0001c0001t0007g0172	4	260	0.0154	31	c.75 others(40): Show c.752_*782dupAATTTCTTGCTATACAGAAACTATGTATGTA	SH3GL2	ENSG00000107295.10	transcript	ENST00000380607.5	protein_coding	9/9	783	INFO_REALIGN_3_PRIME	chr9	TogoVar
SH3GLB1_chr1_86699576_86753184	86724892	A A	AAAAAAAA others(24): Show AAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0097 a0001c0001t0004g0097	1	318	0.0031	31	c.570 others(46): Show c.570+488_570+489insAAAAAAATATATATATATATATATATATAT A	SH3GLB1	ENSG00000097033.15	transcript	ENST00000370558.8	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SH3GLB1_chr1_86699576_86753184	86724892	A A	AAATATAT others(24): Show AAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0110 a0001c0001t0007g0110	1	318	0.0031	31	c.570 others(46): Show c.570+488_570+489insATATATATATATATATATATATATATATAT A	SH3GLB1	ENSG00000097033.15	transcript	ENST00000370558.8	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SH3KBP1_chrX_19528977_19892600	19567551	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	204	0.0049	31	c.138 others(50): Show c.1384+1551_1384+1552insATATATATATATATATATATATATAT ATATA	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	13/17			chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19874068	A A	AAAAAAAA others(24): Show AAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0193 a0001c0001t0009g0193	1	204	0.0049	31	c.4+1 others(46): Show c.4+13238_4+13239insATATATATATATATATATATATATTTTTTT T	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	1/17			chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19874068	A A	AAAAATAT others(24): Show AAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	204	0.0049	31	c.4+1 others(46): Show c.4+13238_4+13239insATATATATATATATATATATATATATATTT T	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	1/17			chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19874068	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	204	0.0049	31	c.4+1 others(46): Show c.4+13238_4+13239insATATATATATATATATATATATATATATAT A	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	1/17			chrX	TogoVar
SH3RF3_chr2_109124205_109509634	109199495	G G	GAATGGAA others(24): Show GAATGGAATGGAATGGAATGGAATGGAATGGA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0158 a0002c0002t0001g0158	1	172	0.0058	31	c.573 others(50): Show c.573+69383_573+69384insATGGAATGGAATGGAATGGAATGGAA TGGAA	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SHANK1_chr19_50654255_50724802	50665737	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0027 a0001c0015t0027	a0001c0015t0027g0028 a0001c0015t0027g0028	1	316	0.0032	31	c.576 others(48): Show c.5768+454_5768+455insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	23/23			chr19	TogoVar
SHC4_chr15_48818741_48968919	48919295	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0006 a0001c0001t0015g0006	1	384	0.0026	31	c.656 others(48): Show c.656+5583_656+5584insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	SHC4	ENSG00000185634.12	transcript	ENST00000332408.9	protein_coding	2/11			chr15	TogoVar
SHCBP1L_chr1_182894865_182958166	182924975	A A	AAAGAAAG others(24): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	1	302	0.0033	31	c.118 others(50): Show c.1182+4671_1182+4672insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHISA7_chr19_55423740_55448300	55435890	A A	ATGTATGT others(24): Show ATGTATGTTTGCAAATGTCCGTAATAAAAAGT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	372	0.0027	31	c.976 others(48): Show c.976+1684_976+1714dupACTTTTTATTACGGACATTTGCAAACAT ACA	SHISA7	ENSG00000187902.13	transcript	ENST00000376325.10	protein_coding	3/3			chr19	TogoVar
SHISA9_chr16_12896598_13245416	13071600	C C	CCTTCCTT others(24): Show CCTTCCTTCCTCCCTTCCTCCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01975.hp2 HG02293.hp2 others(5): Show HG01258.hp2 HG01975.hp2 HG02293.hp2 HG02698.hp2 HG03710.hp1 HG03831.hp1 NA18612.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0012 a0001c0001t0016 a0001c0001t0040 a0001c0003t0008	a0001c0001t0001g0011 a0001c0001t0001g0087 a0001c0001t0002g0012 others(5): Show a0001c0001t0001g0011 a0001c0001t0001g0087 a0001c0001t0002g0012 a0001c0001t0010g0130 a0001c0001t0012g0145 a0001c0001t0016g0212 a0001c0001t0040g0113 a0001c0003t0008g0002	8	214	0.0374	31	c.692 others(52): Show c.692-131793_692-131792insTTCCTTCCTCCCTTCCTCCCTTCC TTCCTTC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISAL1_chr22_44238665_44317951	44241646	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0301 a0001c0301	a0001c0301t0006 a0001c0301t0006	a0001c0301t0006g0366 a0001c0301t0006g0366	1	380	0.0026	31	c.80 others(42): Show c.8038_*8039insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding		2018		chr22	TogoVar
SHOX_chrX_625791_656584	626585	G G	GTCTCTGT others(24): Show GTCTCTGTCTCTCTCTCTCCTCTCTCTGTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG01081.hp2 HG01168.hp2 others(10): Show HG00544.hp1 HG01081.hp2 HG01168.hp2 HG01975.hp1 HG02451.hp1 HG02523.hp1 HG03704.hp1 HG03704.hp2 NA18954.hp2 NA18956.hp1 NA18973.hp2 NA19010.hp1 NA19057.hp2	a0000 a0001 a0000 a0001	a0000c0002 a0001c0001 a0000c0002 a0001c0001	a0000c0002t0077 a0001c0001t0017 a0001c0001t0028 others(10): Show a0000c0002t0077 a0001c0001t0017 a0001c0001t0028 a0001c0001t0034 a0001c0001t0068 a0001c0001t0079 a0001c0001t0109 a0001c0001t0117 a0001c0001t0139 a0001c0001t0151 a0001c0001t0152 a0001c0001t0154 a0001c0001t0171	a0000c0002t0077g0031 a0001c0001t0017g0023 a0001c0001t0028g0025 others(10): Show a0000c0002t0077g0031 a0001c0001t0017g0023 a0001c0001t0028g0025 a0001c0001t0034g0038 a0001c0001t0068g0039 a0001c0001t0079g0027 a0001c0001t0109g0056 a0001c0001t0117g0135 a0001c0001t0139g0085 a0001c0001t0151g0024 a0001c0001t0152g0108 a0001c0001t0154g0036 a0001c0001t0171g0157	13	220	0.0591	31	c.-43 others(42): Show c.-4313_-4312insTCTCTGTCTCTCTCTCTCCTCTCTCTGTATC	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4205		chrX	TogoVar
SHROOM3_chr4_76430229_76788253	76735868	A A	AAAAAAAA others(24): Show AAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0182 a0002c0002t0001g0182	1	218	0.0046	31	c.588 others(48): Show c.588-2892_588-2891insAAAAAAATATATATATATATATATATAT ATA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SIGIRR_chr11_400716_419999	401074	G G	GCCCCGCT others(24): Show GCCCCGCTCACCCCGCCCCGCTCACACCCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02723.hp1 HG02257.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0138 a0001c0001t0001g0139	2	242	0.0083	31	c.48 others(42): Show c.4821_*4822insGCCGGGTGTGAGCGGGGCGGGGTGAGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4641		chr11	TogoVar
SIGIRR_chr11_400716_419999	401162	A A	ACCCGGCC others(24): Show ACCCGGCCCCGCTCACCCCCGCCCCGCTCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02723.hp1 HG02257.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0138 a0001c0001t0001g0139	2	242	0.0083	31	c.47 others(42): Show c.4733_*4734insGGTGAGCGGGGCGGGGGTGAGCGGGGCCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4553		chr11	TogoVar
SIGIRR_chr11_400716_419999	401194	A A	ACCCGCCC others(24): Show ACCCGCCCCGCTCACACCCCGCCCCGCTCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	242	0.0041	31	c.47 others(42): Show c.4701_*4702insGGTGAGCGGGGCGGGGTGTGAGCGGGGCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4521		chr11	TogoVar
SIGIRR_chr11_400716_419999	401194	A A	ACCCGCCC others(24): Show ACCCGCCCCGCTCACACCCGCCCCGCTCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp1 NA18974.hp2 HG03492.hp1 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0097 a0001c0001t0001g0078 a0001c0001t0001g0097	2	242	0.0083	31	c.47 others(42): Show c.4701_*4702insGGGTGAGCGGGGCGGGTGTGAGCGGGGCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4521		chr11	TogoVar
SIGIRR_chr11_400716_419999	401259	C C	CGACCCGC others(24): Show CGACCCGCTCACCCCGGCCCCGCTCACCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02723.hp1 HG02257.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0138 a0001c0001t0001g0139	2	242	0.0083	31	c.46 others(42): Show c.4636_*4637insCGGGGGTGAGCGGGGCCGGGGTGAGCGGGTC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4456		chr11	TogoVar
SIGIRR_chr11_400716_419999	401613	G G	GGCCCCGC others(24): Show GGCCCCGCTCACACCCGGCCCCGCTCACACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	242	0.0041	31	c.42 others(42): Show c.4252_*4282dupGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4102		chr11	TogoVar
SIGLEC6_chr19_51512819_51536670	51519393	T T	TTGTTAGC others(24): Show TTGTTAGCTGTTTTACAGCTAACAAAGCTGTA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0095 a0001c0001t0034g0095	1	418	0.0024	31	c.65 others(40): Show c.658_*688dupTACAGCTTTGTTAGCTGTAAAACAGCTAACA	SIGLEC6	ENSG00000105492.16	transcript	ENST00000425629.8	protein_coding	8/8	688		chr19	TogoVar
SIK2_chr11_111597449_111735855	111628451	T T	TTTCTTTC others(24): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp2 NA18979.hp1 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0036 a0001c0001t0002g0017 a0001c0001t0001g0036 a0001c0001t0002g0017	2	198	0.0101	31	c.316 others(48): Show c.316+8051_316+8052insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTT	SIK2	ENSG00000170145.5	transcript	ENST00000304987.4	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
SIM2_chr21_36694115_36754917	36707970	C C	CCTGGCCC others(24): Show CCTGGCCCGCAGTTCCTGGGGTGGGGAGCGGG	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0243 a0001c0001t0004g0243	1	410	0.0024	31	c.176 others(48): Show c.176-1197_176-1196insTGGCCCGCAGTTCCTGGGGTGGGGAGCG GGC	SIM2	ENSG00000159263.16	transcript	ENST00000290399.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
SIN3A_chr15_75364379_75456690	75376859	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	324	0.0031	31	c.338 others(48): Show c.3384-988_3384-987insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	SIN3A	ENSG00000169375.17	transcript	ENST00000394947.8	protein_coding	19/20			chr15	TogoVar
SINHCAF_chr12_31275584_31331150	31328401	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0308 a0001c0001t0004g0308	1	349	0.0029	31	c.-23 others(42): Show c.-2399_-2398insATATATATATATATTTTTTTTTTTTTTTTTT	SINHCAF	ENSG00000139146.14	transcript	ENST00000337682.9	protein_coding		2252		chr12	TogoVar
SINHCAF_chr12_31275584_31331150	31328401	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0307 a0001c0001t0004g0307	1	349	0.0029	31	c.-23 others(42): Show c.-2399_-2398insATATATATATATATATTTTTTTTTTTTTTTT	SINHCAF	ENSG00000139146.14	transcript	ENST00000337682.9	protein_coding		2252		chr12	TogoVar
SIPA1L3_chr19_37902208_38213369	37937741	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0008 a0007c0008t0008	a0007c0008t0008g0002 a0007c0008t0008g0002	1	164	0.0061	31	c.-37 others(52): Show c.-379+30406_-379+30407insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SKIL_chr3_170352715_170401835	170365752	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0312 a0002c0002t0006g0312	1	362	0.0028	31	c.109 others(50): Show c.1098+4344_1098+4345insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	SKIL	ENSG00000136603.15	transcript	ENST00000259119.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SKOR2_chr18_47201169_47256660	47245478	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0231 a0001c0001t0002g0231	1	344	0.0029	31	c.267 others(46): Show c.2677+19_2677+20insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	SKOR2	ENSG00000215474.8	transcript	ENST00000425639.3	protein_coding	3/8			chr18	TogoVar
SLAMF6_chr1_160480036_160528255	160484243	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0159 a0001c0001t0007g0159	1	394	0.0025	31	c.24 others(42): Show c.2463_*2464insAAAAAAATATATATATATATATATATATATA	SLAMF6	ENSG00000162739.14	transcript	ENST00000368057.8	protein_coding		792		chr1	TogoVar
SLAMF6_chr1_160480036_160528255	160484244	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	394	0.0025	31	c.24 others(42): Show c.2462_*2463insTATATATATATATATATATATATATATATAT	SLAMF6	ENSG00000162739.14	transcript	ENST00000368057.8	protein_coding		791		chr1	TogoVar
SLC10A7_chr4_146248981_146526940	146468467	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	244	0.0041	31	c.397 others(50): Show c.397-25647_397-25646insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	SLC10A7	ENSG00000120519.16	transcript	ENST00000335472.12	protein_coding	4/11			chr4	TogoVar
SLC12A2_chr5_128078766_128194677	128126966	A A	ATATATAT others(24): Show ATATATATATATATATATATATATAATTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01517.hp1 HG00621.hp1 HG01517.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0012 a0001c0002 a0002c0012	a0001c0002t0001 a0002c0012t0001 a0001c0002t0001 a0002c0012t0001	a0001c0002t0001g0147 a0002c0012t0001g0139 a0001c0002t0001g0147 a0002c0012t0001g0139	2	354	0.0057	31	c.104 others(50): Show c.1049-4100_1049-4099insATATATATATATATATATATATAATT TTTTT	SLC12A2	ENSG00000064651.14	transcript	ENST00000262461.7	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC12A2_chr5_128078766_128194677	128126966	A A	ATATATAT others(24): Show ATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0159 a0001c0002t0009g0159	1	354	0.0028	31	c.104 others(50): Show c.1049-4100_1049-4099insATATATATATATATATATATATTTTT TTTTT	SLC12A2	ENSG00000064651.14	transcript	ENST00000262461.7	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC12A3_chr16_56860207_56920850	56907444	C C	CGAGACTC others(24): Show CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02280.hp2 HG02109.hp2 HG02280.hp2	a0009 a0019 a0009 a0019	a0009c0036 a0019c0056 a0009c0036 a0019c0056	a0009c0036t0002 a0019c0056t0002 a0009c0036t0002 a0019c0056t0002	a0009c0036t0002g0067 a0019c0056t0002g0153 a0009c0036t0002g0067 a0019c0056t0002g0153	2	420	0.0048	31	c.292 others(50): Show c.2924+2982_2924+2983insGAGACTCCGTCTCAAAAAAAAAAAAA AAAAA	SLC12A3	ENSG00000070915.10	transcript	ENST00000563236.6	protein_coding	25/25			chr16	TogoVar
SLC12A7_chr5_1045384_1117063	1070045	G G	GAGCCCCC others(24): Show GAGCCCCCAGCACACGGGCATCACACTTATGC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01106.hp2 HG01192.hp1 others(4): Show HG00741.hp2 HG01106.hp2 HG01192.hp1 HG02155.hp1 HG03927.hp1 NA18943.hp1 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0020 a0002c0002 others(1): Show a0001c0001 a0001c0020 a0002c0002 a0002c0008	a0001c0001t0001 a0001c0001t0007 a0001c0001t0023 others(3): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0023 a0001c0020t0001 a0002c0002t0002 a0002c0008t0002	a0001c0001t0001g0053 a0001c0001t0007g0090 a0001c0001t0023g0033 others(4): Show a0001c0001t0001g0053 a0001c0001t0007g0090 a0001c0001t0023g0033 a0001c0020t0001g0089 a0002c0002t0002g0045 a0002c0008t0002g0062 a0002c0008t0002g0063	7	118	0.0593	31	c.224 others(50): Show c.2241+3587_2241+3588insGCATAAGTGTGATGCCCGTGTGCTGG GGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070098	G G	GAGCCGCC others(24): Show GAGCCGCCAGCACACGGGCATCACACTTATGC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0004 a0001c0017t0004	a0001c0017t0004g0020 a0001c0017t0004g0020	1	118	0.0085	31	c.224 others(50): Show c.2241+3534_2241+3535insGCATAAGTGTGATGCCCGTGTGCTGG CGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070182	G G	GAGCCCCC others(24): Show GAGCCCCCAGCACACGGGCATCACACTTATGC	intron_variant intron_variant	MODIFIER	HG02273.hp1 NA18522.hp2 HG02273.hp1 NA18522.hp2	a0002 a0002	a0002c0004 a0002c0012 a0002c0004 a0002c0012	a0002c0004t0001 a0002c0012t0003 a0002c0004t0001 a0002c0012t0003	a0002c0004t0001g0070 a0002c0012t0003g0075 a0002c0004t0001g0070 a0002c0012t0003g0075	2	118	0.0170	31	c.224 others(50): Show c.2241+3450_2241+3451insGCATAAGTGTGATGCCCGTGTGCTGG GGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070523	G G	GAGCCCCC others(24): Show GAGCCCCCAGCACACGGGCATCACACTTATGC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02071.hp2 HG01993.hp1 HG02071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0066 a0002c0002t0002g0083 a0002c0002t0002g0066 a0002c0002t0002g0083	2	118	0.0170	31	c.224 others(50): Show c.2241+3109_2241+3110insGCATAAGTGTGATGCCCGTGTGCTGG GGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070523	G G	GAGCCCCC others(24): Show GAGCCCCCAGCACACGGGTATCACACTTATGC	intron_variant intron_variant	MODIFIER	HG00639.hp1 NA18906.hp2 HG00639.hp1 NA18906.hp2	a0001 a0004 a0001 a0004	a0001c0014 a0004c0027 a0001c0014 a0004c0027	a0001c0014t0003 a0004c0027t0004 a0001c0014t0003 a0004c0027t0004	a0001c0014t0003g0059 a0004c0027t0004g0029 a0001c0014t0003g0059 a0004c0027t0004g0029	2	118	0.0170	31	c.224 others(50): Show c.2241+3109_2241+3110insGCATAAGTGTGATACCCGTGTGCTGG GGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070781	G G	GAGCCCCC others(24): Show GAGCCCCCAGCACACGGGCATCACACTTACGC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0012 a0001c0007t0012	a0001c0007t0012g0001 a0001c0007t0012g0001	1	118	0.0085	31	c.224 others(50): Show c.2241+2851_2241+2852insGCGTAAGTGTGATGCCCGTGTGCTGG GGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070781	G G	GAGCCCCC others(24): Show GAGCCCCCAGCACACGGGCATCACACTTATGC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG06807.hp2 NA19030.hp2 HG03579.hp1 HG06807.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0007 a0002c0016 a0001c0003 a0001c0007 a0002c0016	a0001c0003t0003 a0001c0007t0005 a0002c0016t0001 a0001c0003t0003 a0001c0007t0005 a0002c0016t0001	a0001c0003t0003g0004 a0001c0007t0005g0022 a0002c0016t0001g0057 a0001c0003t0003g0004 a0001c0007t0005g0022 a0002c0016t0001g0057	3	118	0.0254	31	c.224 others(50): Show c.2241+2851_2241+2852insGCATAAGTGTGATGCCCGTGTGCTGG GGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070781	G G	GAGCCCCC others(24): Show GAGCCCCCAGCACACGGGTATCACACTTATGC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0018 a0001c0003t0017g0018	1	118	0.0085	31	c.224 others(50): Show c.2241+2851_2241+2852insGCATAAGTGTGATACCCGTGTGCTGG GGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071286	G G	GAGCCCCC others(24): Show GAGCCCCCAGCACACGGGCATCACACTTATGC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03654.hp2 NA18906.hp2 HG02965.hp2 HG03654.hp2 NA18906.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0014 a0002c0004 a0003c0037 a0001c0014 a0002c0004 a0003c0037	a0001c0014t0003 a0002c0004t0001 a0003c0037t0003 a0001c0014t0003 a0002c0004t0001 a0003c0037t0003	a0001c0014t0003g0059 a0002c0004t0001g0036 a0003c0037t0003g0008 a0001c0014t0003g0059 a0002c0004t0001g0036 a0003c0037t0003g0008	3	118	0.0254	31	c.224 others(50): Show c.2241+2346_2241+2347insGCATAAGTGTGATGCCCGTGTGCTGG GGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071286	G G	GAGCCCCC others(24): Show GAGCCCCCAGCACACGGGTATCACACTTATGC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0004 a0002c0025t0004	a0002c0025t0004g0061 a0002c0025t0004g0061	1	118	0.0085	31	c.224 others(50): Show c.2241+2346_2241+2347insGCATAAGTGTGATACCCGTGTGCTGG GGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072040	G G	GAGCCCCC others(24): Show GAGCCCCCAGCACACGGGCATCACACTTACGC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0004 a0001c0017t0004	a0001c0017t0004g0020 a0001c0017t0004g0020	1	118	0.0085	31	c.224 others(50): Show c.2241+1592_2241+1593insGCGTAAGTGTGATGCCCGTGTGCTGG GGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072040	G G	GAGCCCCC others(24): Show GAGCCCCCAGCACACGGGCATCACACTTATGC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02071.hp2 HG02273.hp2 others(2): Show HG01993.hp1 HG02071.hp2 HG02273.hp2 HG03654.hp2 NA19079.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0016 a0002c0002 a0002c0004 a0002c0016	a0002c0002t0002 a0002c0004t0001 a0002c0016t0010 a0002c0002t0002 a0002c0004t0001 a0002c0016t0010	a0002c0002t0002g0066 a0002c0002t0002g0083 a0002c0002t0002g0102 others(2): Show a0002c0002t0002g0066 a0002c0002t0002g0083 a0002c0002t0002g0102 a0002c0004t0001g0036 a0002c0016t0010g0082	5	118	0.0424	31	c.224 others(50): Show c.2241+1592_2241+1593insGCATAAGTGTGATGCCCGTGTGCTGG GGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072135	G G	GAGCCCCC others(24): Show GAGCCCCCAGCACACGGGCATCACACTTATGC	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA18522.hp2 HG01884.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0014 a0002c0012 a0001c0014 a0002c0012	a0001c0014t0003 a0002c0012t0003 a0001c0014t0003 a0002c0012t0003	a0001c0014t0003g0058 a0002c0012t0003g0075 a0001c0014t0003g0058 a0002c0012t0003g0075	2	118	0.0170	31	c.224 others(50): Show c.2241+1497_2241+1498insGCATAAGTGTGATGCCCGTGTGCTGG GGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar

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Search Results (Total: 5228 hits)