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
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	356	0.0028	39	c.180 others(56): Show c.1807-513_1807-512insAAAAAAAAAAAAATATATATATATATAT ATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02300.hp1 NA19062.hp2 HG02300.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0246 a0001c0001t0001g0216 a0001c0001t0001g0246	2	356	0.0056	39	c.180 others(56): Show c.1807-513_1807-512insAAAAAAAAAAATATATATATATATATAT ATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(32): Show AAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02165.hp2 NA18974.hp2 HG00099.hp2 HG02165.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0071 a0001c0001t0001g0226 a0001c0001t0004g0244 a0001c0001t0001g0071 a0001c0001t0001g0226 a0001c0001t0004g0244	3	356	0.0084	39	c.180 others(56): Show c.1807-513_1807-512insAAAAAAATATATATATATATATATATAT ATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAATAT others(32): Show AAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0165 a0001c0003t0001g0165	1	356	0.0028	39	c.180 others(56): Show c.1807-513_1807-512insAAATATATATATATATATATATATATAT ATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAACAAAC others(32): Show AAACAAACATATATATATGTATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0336 a0001c0001t0003g0336	1	356	0.0028	39	c.180 others(56): Show c.1807-513_1807-512insACAAACATATATATATGTATATATATAT ATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAACAAAC others(32): Show AAACAAACATATATATATGTATGTATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02896.hp2 HG02809.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0333 a0001c0001t0003g0334 a0001c0001t0003g0333 a0001c0001t0003g0334	2	356	0.0056	39	c.180 others(56): Show c.1807-513_1807-512insACAAACATATATATATGTATGTATATAT ATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	260	0.0039	39	c.-12 others(50): Show c.-1200_-1199insAAAAAAATATATATATATATATATATATATATAT ATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	260	0.0039	39	c.-12 others(50): Show c.-1200_-1199insAAAAAAAAATATATATATATATATATATATATAT ATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	260	0.0039	39	c.-12 others(50): Show c.-1200_-1199insAAAAAAAAAAATATATATATATATATATATATAT ATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCK1_chr5_136970298_137504326	137131989	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02615.hp1 HG00280.hp2 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0030 a0001c0001t0015 a0001c0001t0030	a0001c0001t0015g0098 a0001c0001t0030g0113 a0001c0001t0015g0098 a0001c0001t0030g0113	2	152	0.0132	39	c.347 others(56): Show c.347+8590_347+8591insATATATATATATATATATTTTTTTTTTT TTTTTTTTTTT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	4/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137131989	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0059 a0001c0001t0003g0059	1	152	0.0066	39	c.347 others(56): Show c.347+8590_347+8591insATATATATATATATATATATTTTTTTTT TTTTTTTTTTT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	4/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137131989	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0010 a0001c0002t0019g0010	1	152	0.0066	39	c.347 others(56): Show c.347+8590_347+8591insATATATATATATATATATATATATTTTT TTTTTTTTTTT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	4/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137131989	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0087 a0001c0001t0007g0087	1	152	0.0066	39	c.347 others(56): Show c.347+8590_347+8591insATATATATATATATATATATATATATTT TTTTTTTTTTT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	4/10			chr5	TogoVar
SPTBN1_chr2_54451327_54676446	54522642	A A	AAAGAGAG others(32): Show AAAGAGAGAGAGAGGAGAGAGAGAGAGAGAGGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0014 a0002c0006t0003g0014	1	370	0.0027	39	c.-47 others(56): Show c.-47-3729_-47-3728insAGAGAGAGAGAGGAGAGAGAGAGAGAGA GGAGAGAGAGA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTSSA_chr14_34427788_34467240	34443146	T T	TGTGTGTG others(32): Show TGTGTGTGTGTGTGTTTTGAGATTGAGTTTTCCTCTAGGG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01175.hp2 HG03831.hp1 others(3): Show HG01168.hp1 HG01175.hp2 HG03831.hp1 HG03834.hp2 HG04204.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0097 a0001c0001t0004g0098 a0001c0001t0004g0099 others(3): Show a0001c0001t0004g0097 a0001c0001t0004g0098 a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0004g0101 a0001c0001t0004g0312	6	344	0.0174	39	c.113 others(56): Show c.113-7843_113-7842insCCCTAGAGGAAAACTCAATCTCAAAACA CACACACACAC	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SREK1IP1_chr5_64713148_64773691	64731521	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0037 a0001c0003t0012g0037	1	342	0.0029	39	c.206 others(56): Show c.206-3343_206-3342insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	SREK1IP1	ENSG00000153006.16	transcript	ENST00000513458.9	protein_coding	3/4			chr5	TogoVar
SRGAP2B_chr1_144882288_145100328	144883678	C C	CGCAAAAG others(32): Show CGCAAAAGCCGCGGCGGACAAAAAGCTGCGGCGGCGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG02071.hp1 HG01346.hp2 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0036 a0001c0001t0013g0025 a0001c0001t0001g0036 a0001c0001t0013g0025	2	56	0.0357	39	c.84 others(50): Show c.8481_*8482insACCCCGCCGCCGCAGCTTTTTGTCCGCCGCGGCT TTTGC	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding		3609		chr1	TogoVar
SRP54_chr14_34977992_35034567	34988578	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	396	0.0025	39	c.-34 others(56): Show c.-34+5364_-34+5365insAAAAAAAAAAAAAAATATATATATATAT ATATATATATA	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP54_chr14_34977992_35034567	34988578	A A	AAAAAAAA others(32): Show AAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0020 a0001c0001t0001g0021	2	396	0.0051	39	c.-34 others(56): Show c.-34+5364_-34+5365insAAAAAAAAATATATATATATATATATAT ATATATATATA	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRPK2_chr7_105111374_105393921	105159463	A A	AAACAAAA others(32): Show AAACAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	282	0.0036	39	c.621 others(56): Show c.621+1043_621+1044insGTTTTTTTTTTTTTTTTTTTTTTTGTTT TTTTTTTTGTT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	7/15			chr7	TogoVar
SRRM1_chr1_24638302_24678281	24640519	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG04204.hp1 HG01346.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0204 a0001c0001t0001g0176 a0001c0001t0001g0204	2	352	0.0057	39	c.-28 others(50): Show c.-2808_-2807insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding		2782		chr1	TogoVar
SS18L1_chr20_62138769_62187514	62151799	G G	GCCCCCGT others(32): Show GCCCCCGTTCCCCTCTTTTCCCGCTCCCCATAGCTGGCCT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	316	0.0032	39	c.70- others(54): Show c.70-6843_70-6805dupTAGCTGGCCTCCCCCGTTCCCCTCTTTTCC CGCTCCCCA	SS18L1	ENSG00000184402.15	transcript	ENST00000331758.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
SS18L1_chr20_62138769_62187514	62151860	G G	GATCCCCA others(32): Show GATCCCCAGAGCTGGCCTCCCCCGTTCCCCTCTTTTCCCA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0176 a0001c0001t0003g0176	1	316	0.0032	39	c.70- others(54): Show c.70-6812_70-6811insATCCCCAGAGCTGGCCTCCCCCGTTCCCCT CTTTTCCCA	SS18L1	ENSG00000184402.15	transcript	ENST00000331758.8	protein_coding	1/10			chr20	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG03579.hp2 HG00673.hp2 HG03579.hp2	a0001 a0041 a0001 a0041	a0001c0001 a0041c0065 a0001c0001 a0041c0065	a0001c0001t0001 a0041c0065t0002 a0001c0001t0001 a0041c0065t0002	a0001c0001t0001g0118 a0041c0065t0002g0218 a0001c0001t0001g0118 a0041c0065t0002g0218	2	412	0.0049	39	c.138 others(56): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT ATATATTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0058 a0002c0003t0002g0058	1	412	0.0024	39	c.138 others(56): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT ATATTTTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	412	0.0024	39	c.138 others(56): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT ATTTTTTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSPN_chr12_26190573_26239777	26201024	T T	TATAAAAT others(32): Show TATAAAATATATATATATATAAATAATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp2 HG02451.hp1 others(7): Show HG02257.hp1 HG02257.hp2 HG02451.hp1 HG02622.hp2 HG02970.hp2 HG03098.hp2 HG03195.hp1 HG03471.hp2 NA18906.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0007 a0002c0003t0006 a0002c0003t0012 a0001c0001t0007 a0002c0003t0006 a0002c0003t0012	a0001c0001t0007g0107 a0002c0003t0006g0009 a0002c0003t0006g0108 others(4): Show a0001c0001t0007g0107 a0002c0003t0006g0009 a0002c0003t0006g0108 a0002c0003t0006g0110 a0002c0003t0006g0111 a0002c0003t0012g0109 a0002c0003t0012g0112	10	384	0.0260	39	c.279 others(56): Show c.279+5076_279+5077insAAATATATATATATATAAATAATATATA TATATATAATA	SSPN	ENSG00000123096.12	transcript	ENST00000242729.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
SSPN_chr12_26190573_26239777	26201024	T T	TATATAAA others(32): Show TATATAAAATATATATATATAAATAATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp1 HG02055.hp1 HG02145.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0115 a0002c0003t0006g0116 a0002c0003t0006g0115 a0002c0003t0006g0116	2	384	0.0052	39	c.279 others(56): Show c.279+5078_279+5079insAAATATATATATATAAATAATATATATA TATATAATATA	SSPN	ENSG00000123096.12	transcript	ENST00000242729.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
SSPN_chr12_26190573_26239777	26201026	T T	TAAAATAT others(32): Show TAAAATATATATATATATAAATAATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0050 a0004c0006t0050	a0004c0006t0050g0113 a0004c0006t0050g0113	1	384	0.0026	39	c.279 others(56): Show c.279+5076_279+5077insAAATATATATATATATAAATAATATATA TATATATATAA	SSPN	ENSG00000123096.12	transcript	ENST00000242729.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
ST18_chr8_52105838_52414756	52342209	A A	ATATGTAC others(32): Show ATATGTACAATTTTTACTTGTCAATTTAAAAAATACGTTG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0041 a0001c0001t0010g0041	1	104	0.0096	39	c.-46 others(60): Show c.-465+67080_-465+67118dupCAACGTATTTTTTAAATTGACAAG TAAAAATTGTACATA	ST18	ENSG00000147488.13	transcript	ENST00000689386.1	protein_coding	2/25			chr8	TogoVar
ST3GAL3_chr1_43702536_43936159	43905205	C C	CCCTCCTC others(32): Show CCCTCCTCCTGTTCCTCTTCCCGCCACTCTTCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	274	0.0037	39	c.744 others(56): Show c.744+5499_744+5537dupCGCCACTCTTCCTCCCCCTCCTCCTCCT GTTCCTCTTCC	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST3GAL3_chr1_43702536_43936159	43906017	T T	TTCCTCTT others(32): Show TTCCTCTTCCCGCCACTCTTCCTCCCCCTCCCCCTCCTGC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	274	0.0037	39	c.744 others(56): Show c.744+6300_744+6338dupCGCCACTCTTCCTCCCCCTCCCCCTCCT GCTCCTCTTCC	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77070774	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0007 a0002c0004t0007	a0002c0004t0007g0183 a0002c0004t0007g0183	1	202	0.0050	39	c.75 others(50): Show c.7568_*7569insTATATATATATATATATATATATATATTTTTTTT TTTTT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding		3229		chr1	TogoVar
ST8SIA5_chr18_46662821_46762053	46719682	T T	TTTCTTTC others(32): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0255 a0001c0001t0003g0255	1	362	0.0028	39	c.132 others(58): Show c.132-15019_132-15018insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAA	ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6			chr18	TogoVar
ST8SIA5_chr18_46662821_46762053	46725982	T T	TATATATA others(32): Show TATATATATATATATATATATATATATATATATATCCTGG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	362	0.0028	39	c.132 others(58): Show c.132-21319_132-21318insCCAGGATATATATATATATATATATA TATATATATATAT	ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6			chr18	TogoVar
STAG1_chr3_136331236_136757378	136396520	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0197 a0001c0001t0003g0197	1	240	0.0042	39	c.227 others(58): Show c.2277+2228_2277+2229insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	22/33			chr3	TogoVar
STARD9_chr15_42570606_42725998	42626366	T T	TTCTTCCT others(32): Show TTCTTCCTCTTCCTCTTCTTCCTCTTCCTCTTCTTCCTCC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02109.hp1 HG02109.hp2 others(9): Show HG01496.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02280.hp1 HG02615.hp1 HG02647.hp2 HG02976.hp1 HG03139.hp2 NA18522.hp1 NA19043.hp1 NA20300.hp2	a0002 a0003 a0009 others(2): Show a0002 a0003 a0009 a0011 a0040	a0002c0002 a0003c0004 a0003c0023 others(3): Show a0002c0002 a0003c0004 a0003c0023 a0009c0011 a0011c0012 a0040c0032	a0002c0002t0004 a0003c0004t0002 a0003c0023t0002 others(3): Show a0002c0002t0004 a0003c0004t0002 a0003c0023t0002 a0009c0011t0002 a0011c0012t0002 a0040c0032t0002	a0002c0002t0004g0166 a0003c0004t0002g0015 a0003c0004t0002g0083 others(9): Show a0002c0002t0004g0166 a0003c0004t0002g0015 a0003c0004t0002g0083 a0003c0004t0002g0158 a0003c0004t0002g0159 a0003c0004t0002g0162 a0003c0004t0002g0163 a0003c0004t0002g0165 a0003c0023t0002g0154 a0009c0011t0002g0164 a0011c0012t0002g0007 a0040c0032t0002g0014	12	210	0.0571	39	c.235 others(56): Show c.235-8482_235-8481insTTCCTCTTCTTCCTCTTCCTCTTCTTCC TCCTCTTCCTC	STARD9	ENSG00000159433.12	transcript	ENST00000290607.12	protein_coding	3/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
STAT2_chr12_56336597_56365107	56354016	A A	AAAAAAAT others(32): Show AAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	268	0.0037	39	c.782 others(54): Show c.782+449_782+450insATATATATATATATATATATATATATATAT ATATTTTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354016	A A	AAAAATAT others(32): Show AAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	268	0.0037	39	c.782 others(54): Show c.782+449_782+450insATATATATATATATATATATATATATATAT ATATATTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0205 a0003c0003t0002g0205	1	384	0.0026	39	c.762 others(58): Show c.762+35592_762+35593insAAATATATATATATATATATATATAT ATATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0302 a0002c0002t0002g0302	1	384	0.0026	39	c.762 others(58): Show c.762+35592_762+35593insAAAAAAAAAAAAATATATATATATAT ATATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0281 a0002c0002t0002g0281	1	384	0.0026	39	c.762 others(58): Show c.762+35592_762+35593insAAAAAAAAAAAAAAATATATATATAT ATATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456973	T T	TATATATA others(32): Show TATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02273.hp1 HG01106.hp2 HG02273.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0001 a0004c0004t0001 a0003c0003t0001 a0004c0004t0001	a0003c0003t0001g0206 a0004c0004t0001g0177 a0003c0003t0001g0206 a0004c0004t0001g0177	2	384	0.0052	39	c.762 others(58): Show c.762+35591_762+35592insTATATATATATATATATATATATATA TATATATATATAT	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STIM2_chr4_26855841_27030381	26860795	C C	CGCGGCGG others(32): Show CGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0214 a0001c0001t0011g0214	1	336	0.0030	39	c.-42 others(48): Show c.-424_-423insGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG GCG	STIM2	ENSG00000109689.20	transcript	ENST00000467087.7	protein_coding		45		chr4	TogoVar
STK24_chr13_98440185_98582107	98494412	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0052 a0001c0001t0050g0052	1	322	0.0031	39	c.274 others(58): Show c.274-12092_274-12091insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	2/10			chr13	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	404	0.0025	39	c.483 others(56): Show c.483+1630_483+1631insATATATATATATATATATATATATATAT ATATATATATT	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0151 a0003c0003t0001g0151	1	404	0.0025	39	c.483 others(56): Show c.483+1630_483+1631insATATATATATATATATATATATATATAT ATATATATTTT	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0167 a0003c0003t0001g0167	1	404	0.0025	39	c.483 others(56): Show c.483+1630_483+1631insATATATATATATATATATATATATATAT ATATATTTTTT	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02523.hp2 HG04199.hp1 others(1): Show HG02135.hp1 HG02523.hp2 HG04199.hp1 NA19084.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0182 a0001c0001t0001g0398 a0001c0001t0001g0399 others(1): Show a0001c0001t0001g0182 a0001c0001t0001g0398 a0001c0001t0001g0399 a0003c0003t0001g0028	4	404	0.0099	39	c.483 others(56): Show c.483+1630_483+1631insATATATATATATATATATATATATATAT ATATTTTTTTT	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0389 a0001c0004t0001g0389	1	404	0.0025	39	c.483 others(56): Show c.483+1630_483+1631insATATATATATATATATATATATATATTT TTTTTTTTTTT	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar

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