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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
SPOCK3_chr4_166728384_167239494	166860802	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATGT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	144	0.0069	32	c.589 others(51): Show c.589+28327_589+28328insACATATATATATATATATATATATAT ATATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	166860802	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATGTAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	144	0.0069	32	c.589 others(51): Show c.589+28327_589+28328insATACATATATATATATATATATATAT ATATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167205489	A A	AATATATA others(25): Show AATATATATTATATAATATATATTATATATATT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03041.hp2 NA18906.hp2 HG02257.hp2 HG03041.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0004 a0001c0003t0002 a0001c0001t0003 a0001c0001t0004 a0001c0003t0002	a0001c0001t0003g0076 a0001c0001t0004g0037 a0001c0003t0002g0075 a0001c0001t0003g0076 a0001c0001t0004g0037 a0001c0003t0002g0075	3	144	0.0208	32	c.189 others(51): Show c.189+28495_189+28496insAATATATATAATATATATTATATAAT ATATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPON1_chr11_13957723_14273133	14160441	A A	ATATTTAT others(25): Show ATATTTATATATATATATTTATATATATATATT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0114 a0001c0004t0001g0114	1	224	0.0045	32	c.825 others(51): Show c.825+24874_825+24875insATTTATATATATATATTTATATATAT ATATTT	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON1_chr11_13957723_14273133	14272671	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0169 a0001c0002t0001g0169	1	224	0.0045	32	c.69 others(43): Show c.6984_*6985insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding		4539		chr11	TogoVar
SPPL2B_chr19_2323684_2360095	2335215	T T	TCCCACTG others(25): Show TCCCACTGCATCCTTCAGGCCCCGCCTCCTTTC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp2 HG02486.hp2 others(1): Show HG02257.hp1 HG02257.hp2 HG02486.hp2 HG02723.hp2	a0001 a0002 a0001 a0002	a0001c0018 a0002c0005 a0001c0018 a0002c0005	a0001c0018t0002 a0002c0005t0003 a0001c0018t0002 a0002c0005t0003	a0001c0018t0002g0161 a0002c0005t0003g0051 a0002c0005t0003g0162 others(1): Show a0001c0018t0002g0161 a0002c0005t0003g0051 a0002c0005t0003g0162 a0002c0005t0003g0163	4	414	0.0097	32	c.186 others(47): Show c.186+496_186+497insCACTGCATCCTTCAGGCCCCGCCTCCTTTC CC	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPPL3_chr12_120757510_120909358	120830365	T T	TGAGGGGG others(25): Show TGAGGGGGGAAGGGGAGGGGGGGAAGAAGGGGG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0211 a0001c0001t0009g0211	1	320	0.0031	32	c.24- others(49): Show c.24-19480_24-19479insCCCCCTTCTTCCCCCCCTCCCCTTCCCC CCTC	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SPPL3_chr12_120757510_120909358	120830408	A A	AGGGGGGG others(25): Show AGGGGGGGAAGAAGGGGGGAGGGGGAAGGGGAG	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	320	0.0031	32	c.24- others(49): Show c.24-19523_24-19522insCTCCCCTTCCCCCTCCCCCCTTCTTCCC CCCC	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SPRED3_chr19_38383697_38404587	38397903	T T	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0074 a0001c0001t0028g0074	1	360	0.0028	32	c.17 others(43): Show c.1773_*1774insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SPRED3	ENSG00000188766.13	transcript	ENST00000691638.1	protein_coding	6/6	1774	INFO_REALIGN_3_PRIME	chr19	TogoVar
SPRR2A_chr1_153051120_153062512	153055051	T T	TAAGCTAA others(25): Show TAAGCTAAGTGTCCATTAATGAATGAATGAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	442	0.0023	32	c.14 others(43): Show c.1465_*1466insTATTCATTCATTCATTAATGGACACTTAGCTT	SPRR2A	ENSG00000241794.2	transcript	ENST00000392653.3	protein_coding		1068		chr1	TogoVar
SPRY3_chrX_155607586_155787459	155777636	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATGTAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19067.hp1 NA19090.hp2 NA19067.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0060 a0001c0001t0059 a0001c0001t0060	a0001c0001t0059g0119 a0001c0001t0060g0223 a0001c0001t0059g0119 a0001c0001t0060g0223	2	231	0.0087	32	c.29 others(43): Show c.2906_*2907insATATATATATATATATATATGTAAATATATAT	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	3/3	2907	INFO_REALIGN_3_PRIME	chrX	TogoVar
SPTA1_chr1_158605704_158691715	158659595	A A	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18949.hp2 NA18940.hp1 NA18949.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0006 a0001c0004 a0002c0006	a0001c0004t0009 a0002c0006t0008 a0001c0004t0009 a0002c0006t0008	a0001c0004t0009g0283 a0002c0006t0008g0065 a0001c0004t0009g0283 a0002c0006t0008g0065	2	370	0.0054	32	c.258 others(51): Show c.2587+1691_2587+1692insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	SPTA1	ENSG00000163554.15	transcript	ENST00000643759.2	protein_coding	18/51			chr1	TogoVar
SPTBN1_chr2_54451327_54676446	54522642	A A	AAGAGAGA others(25): Show AAGAGAGAGAGAGGAGAGAGAGAGAGAGAGGAG	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18989.hp1 NA19090.hp2 NA18974.hp1 NA18989.hp1 NA19090.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0152 a0002c0006t0003g0179 a0002c0006t0003g0184 a0002c0006t0003g0152 a0002c0006t0003g0179 a0002c0006t0003g0184	3	370	0.0081	32	c.-47 others(49): Show c.-47-3727_-47-3726insGAGAGAGAGGAGAGAGAGAGAGAGAGGA GAGA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54522647	A A	AGAAAGAG others(25): Show AGAAAGAGAGAGAGAGGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01168.hp2 NA18906.hp2 NA20300.hp2 HG01168.hp2 NA18906.hp2 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0011 a0001c0003 a0001c0011	a0001c0003t0003 a0001c0003t0027 a0001c0011t0023 a0001c0003t0003 a0001c0003t0027 a0001c0011t0023	a0001c0003t0003g0139 a0001c0003t0027g0053 a0001c0011t0023g0229 a0001c0003t0003g0139 a0001c0003t0027g0053 a0001c0011t0023g0229	3	370	0.0081	32	c.-47 others(49): Show c.-47-3723_-47-3722insAAGAGAGAGAGAGGAGAGAGAGAGAGAG AGGA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54522697	G G	GAGAGAGA others(25): Show GAGAGAGAGAGAGAGAGAGAGAAAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01167.hp1 HG01433.hp2 others(2): Show HG00735.hp1 HG01167.hp1 HG01433.hp2 HG01978.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0009 a0001c0018 a0001c0002 a0001c0009 a0001c0018	a0001c0002t0001 a0001c0009t0007 a0001c0009t0045 others(1): Show a0001c0002t0001 a0001c0009t0007 a0001c0009t0045 a0001c0018t0007	a0001c0002t0001g0275 a0001c0009t0007g0272 a0001c0009t0007g0289 others(2): Show a0001c0002t0001g0275 a0001c0009t0007g0272 a0001c0009t0007g0289 a0001c0009t0045g0298 a0001c0018t0007g0112	5	370	0.0135	32	c.-47 others(49): Show c.-47-3672_-47-3671insGAGAGAGAGAGAGAGAGAAAGAGAAAGA AAGA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54522697	G G	GAGAGAGA others(25): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0285 a0001c0009t0002g0285	1	370	0.0027	32	c.-47 others(49): Show c.-47-3672_-47-3671insGAGAGAGAGAGAGAGAGAGAGAGAAAGA AAGA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54576055	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0042 a0001c0018t0042	a0001c0018t0042g0027 a0001c0018t0042g0027	1	370	0.0027	32	c.149 others(51): Show c.149-23020_149-23019insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTB_chr14_64741283_64884907	64751927	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03491.hp2 NA18962.hp2 others(1): Show HG01261.hp2 HG03491.hp2 NA18962.hp2 NA18993.hp2	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0022	a0001c0002 a0002c0013 a0007c0018 others(1): Show a0001c0002 a0002c0013 a0007c0018 a0022c0056	a0001c0002t0001 a0002c0013t0005 a0007c0018t0005 others(1): Show a0001c0002t0001 a0002c0013t0005 a0007c0018t0005 a0022c0056t0001	a0001c0002t0001g0233 a0002c0013t0005g0140 a0007c0018t0005g0167 others(1): Show a0001c0002t0001g0233 a0002c0013t0005g0140 a0007c0018t0005g0167 a0022c0056t0001g0090	4	268	0.0149	32	c.660 others(51): Show c.6602+1609_6602+1610insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	33/35			chr14	TogoVar
SPTB_chr14_64741283_64884907	64765017	A A	AGTGTGTG others(25): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0014 a0002c0006t0014	a0002c0006t0014g0026 a0002c0006t0014g0026	1	268	0.0037	32	c.634 others(51): Show c.6345+1708_6345+1709insACACACACACACACACACACACACAC ACACAC	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	32/35			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77529620	C C	CTTCTTTT others(25): Show CTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	246	0.0041	32	c.130 others(51): Show c.1304-8040_1304-8039insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAGAA	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77529620	C C	CTTTCTTT others(25): Show CTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	246	0.0041	32	c.130 others(51): Show c.1304-8040_1304-8039insAAAAAAAAAAAAAAAAAAAAAAAAAA AAGAAA	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11			chr14	TogoVar
SPTLC3_chr20_13003972_13174103	13038045	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02738.hp2 HG02280.hp2 HG02738.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0016 a0001c0005t0025 a0001c0005t0016 a0001c0005t0025	a0001c0005t0016g0147 a0001c0005t0025g0088 a0001c0005t0016g0147 a0001c0005t0025g0088	2	292	0.0069	32	c.118 others(51): Show c.118-10885_118-10884insTATATATATATATATATATATATATA TATATA	SPTLC3	ENSG00000172296.13	transcript	ENST00000399002.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPTSSB_chr3_161339798_161376517	161369314	C C	CTTTCTTT others(25): Show CTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0184 a0001c0001t0004g0184	1	412	0.0024	32	c.-12 others(51): Show c.-126+2120_-126+2121insAAGAAAGAAAGAGAAAGAAAGAAAGA AAGAAA	SPTSSB	ENSG00000196542.9	transcript	ENST00000620149.2	protein_coding	1/2			chr3	TogoVar
SPZ1_chr5_80315002_80326842	80322726	C C	CTTCTTCA others(25): Show CTTCTTCACTTTTCTATTTCTTTAGTATTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	434	0.0023	32	c.12 others(43): Show c.1218_*1219insTTCTTCACTTTTCTATTTCTTTAGTATTCTTT	SPZ1	ENSG00000164299.7	transcript	ENST00000296739.6	protein_coding		885		chr5	TogoVar
SQOR_chr15_45630029_45696281	45634198	C C	CTATATAT others(25): Show CTATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00639.hp1 HG01884.hp2 others(22): Show HG00609.hp1 HG00639.hp1 HG01884.hp2 HG02109.hp1 HG02129.hp1 HG02559.hp1 HG02615.hp2 HG03017.hp2 HG03130.hp1 HG03710.hp1 HG04204.hp1 NA18940.hp2 NA18942.hp2 NA18952.hp1 NA18956.hp2 NA18959.hp2 NA18960.hp2 NA18967.hp2 NA18970.hp2 NA18977.hp2 NA18992.hp1 NA19002.hp2 NA19010.hp1 NA19079.hp1 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0001c0001t0001 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0021 a0001c0001t0001g0036 a0001c0001t0001g0041 others(22): Show a0001c0001t0001g0021 a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0001g0051 a0001c0001t0001g0087 a0001c0001t0001g0096 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0135 a0001c0001t0001g0142 a0001c0001t0001g0165 a0001c0001t0001g0181 a0001c0001t0001g0200 a0001c0001t0001g0241 a0001c0001t0001g0245 a0001c0001t0001g0254 a0001c0003t0001g0233 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0033 a0002c0002t0001g0048 a0002c0002t0001g0117 a0002c0002t0001g0162 a0002c0002t0001g0194 a0002c0002t0001g0195	25	340	0.0735	32	c.-92 others(41): Show c.-928_-927insTATATATATATATATATATATATATATATATA	SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding		830		chr15	TogoVar
SRBD1_chr2_45383680_45616267	45414757	C C	CATAGTGT others(25): Show CATAGTGTGTATATAGTATGTACACACACACAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	358	0.0028	32	c.233 others(51): Show c.2334-1465_2334-1464insATGTGTGTGTGTACATACTATATACA CACTAT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45414955	C C	CACACACA others(25): Show CACACACATATAGCGTGTATATAGTATGTATAT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	358	0.0028	32	c.233 others(51): Show c.2334-1663_2334-1662insATATACATACTATATACACGCTATAT GTGTGT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45414955	C C	CACACACA others(25): Show CACACACATATAGTGTGTATATAGTATGTACAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	358	0.0028	32	c.233 others(51): Show c.2334-1663_2334-1662insATGTACATACTATATACACACTATAT GTGTGT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45414955	C C	CACACACA others(25): Show CACACACATATAGTGTGTATATAGTATGTATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01256.hp2 HG01258.hp1 others(7): Show HG00597.hp1 HG01256.hp2 HG01258.hp1 HG02040.hp2 NA19002.hp2 NA19007.hp1 NA19043.hp2 NA19057.hp1 NA19082.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0166 a0001c0001t0001g0222 others(7): Show a0001c0001t0001g0116 a0001c0001t0001g0166 a0001c0001t0001g0222 a0001c0001t0001g0246 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0317 a0001c0001t0001g0320 a0001c0001t0001g0323 a0001c0001t0001g0326	10	358	0.0279	32	c.233 others(51): Show c.2334-1694_2334-1663dupATATACATACTATATACACACTATAT GTGTGT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45545283	T T	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03139.hp1 HG02572.hp1 HG03139.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0229 a0002c0002t0001g0118 a0001c0001t0001g0229 a0002c0002t0001g0118	2	358	0.0056	32	c.187 others(51): Show c.1874+1417_1874+1448dupTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	14/20			chr2	TogoVar
SRCIN1_chr17_38525031_38610952	38566866	T T	TTTCCTTC others(25): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0161 a0002c0004t0005g0161	1	261	0.0038	32	c.345 others(49): Show c.345+1313_345+1344dupGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAA	SRCIN1	ENSG00000277363.5	transcript	ENST00000617146.5	protein_coding	3/18			chr17	TogoVar
SRFBP1_chr5_121956975_122033633	121961746	C C	CACACACA others(25): Show CACACACACACACACACACACACACACACACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	228	0.0044	32	c.-28 others(41): Show c.-287_-286insACACACACACACACACACACACACACACACAA	SRFBP1	ENSG00000151304.6	transcript	ENST00000339397.5	protein_coding		228		chr5	TogoVar
SRGAP1_chr12_63839700_64167217	63913480	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATGG	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0063 a0001c0002t0063	a0001c0002t0063g0060 a0001c0002t0063g0060	1	170	0.0059	32	c.67+ others(49): Show c.67+68608_67+68609insTATATATATATATATATATGGATATATA TATA	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	64039628	C C	CGTGTGTG others(25): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01433.hp1 HG01496.hp2 others(3): Show HG00558.hp1 HG01433.hp1 HG01496.hp2 HG02056.hp2 HG03017.hp1 NA18963.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0006 a0001c0001t0021 a0001c0001t0076 others(3): Show a0001c0001t0006 a0001c0001t0021 a0001c0001t0076 a0001c0002t0024 a0001c0002t0060 a0002c0004t0091	a0001c0001t0006g0154 a0001c0001t0021g0150 a0001c0001t0076g0131 others(3): Show a0001c0001t0006g0154 a0001c0001t0021g0150 a0001c0001t0076g0131 a0001c0002t0024g0043 a0001c0002t0060g0125 a0002c0004t0091g0032	6	170	0.0353	32	c.490 others(49): Show c.490-3161_490-3130dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRP54_chr14_34977992_35034567	34988595	A A	ATATATAT others(25): Show ATATATATATATATATATAACATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03579.hp1 HG03471.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0014 a0001c0001t0001g0016	2	396	0.0051	32	c.-34 others(49): Show c.-34+5380_-34+5381insTATATATATATATATATAACATATATAT ATAT	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15			chr14	TogoVar
SRP54_chr14_34977992_35034567	35021693	A A	AATAGGAA others(25): Show AATAGGAATGGAAGTGCCACGTAAATGGATTTC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	396	0.0025	32	c.115 others(51): Show c.1157-1215_1157-1184dupTAGGAATGGAAGTGCCACGTAAATGG ATTTCA	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP68_chr17_76033785_76077517	76062736	T T	TATATATA others(25): Show TATATATAAAATATATATATATATATATATAAA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	365	0.0027	32	c.562 others(49): Show c.562-1163_562-1162insTTTATATATATATATATATATATTTTAT ATAT	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SRP72_chr4_56462617_56508681	56484026	A A	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0003 a0001c0011t0003	a0001c0011t0003g0177 a0001c0011t0003g0177	1	388	0.0026	32	c.958 others(47): Show c.958-685_958-684insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	SRP72	ENSG00000174780.17	transcript	ENST00000642900.1	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
SRPK1_chr6_35827966_35926098	35880742	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp1 HG02145.hp1 others(1): Show HG01891.hp2 HG02109.hp1 HG02145.hp1 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0060 others(1): Show a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0222	4	342	0.0117	32	c.478 others(49): Show c.478+5981_478+5982insCTTTCTTTCTTTTTTTTTTTTTTTTTTT TTTT	SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding	6/15			chr6	TogoVar
SRPX2_chrX_100639199_100680788	100657349	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18942.hp1 NA18939.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0017 a0001c0001t0016 a0001c0001t0017	a0001c0001t0016g0188 a0001c0001t0017g0189 a0001c0001t0016g0188 a0001c0001t0017g0189	2	318	0.0063	32	c.164 others(49): Show c.164-4808_164-4807insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SRPX2	ENSG00000102359.9	transcript	ENST00000373004.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
SRRM1_chr1_24638302_24678281	24640519	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG04199.hp2 NA18939.hp2 others(2): Show HG02165.hp2 HG04199.hp2 NA18939.hp2 NA18968.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0031 a0001c0001t0001g0172 a0001c0001t0001g0257 others(2): Show a0001c0001t0001g0031 a0001c0001t0001g0172 a0001c0001t0001g0257 a0001c0001t0001g0273 a0001c0001t0002g0143	5	352	0.0142	32	c.-28 others(43): Show c.-2808_-2807insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding		2782		chr1	TogoVar
SRRM1_chr1_24638302_24678281	24652029	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00735.hp1 others(3): Show HG00323.hp2 HG00438.hp1 HG00735.hp1 HG01169.hp1 NA19012.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0029 a0001c0001t0001g0144 a0001c0001t0001g0246 others(2): Show a0001c0001t0001g0029 a0001c0001t0001g0144 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0007g0245	6	352	0.0171	32	c.726 others(47): Show c.726-402_726-371dupATATATATATATATATATATATATATATAT AT	SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRRM1_chr1_24638302_24678281	24676051	A A	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0117 a0001c0001t0004g0117	1	352	0.0028	32	c.37 others(43): Show c.3765_*3766insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding		2771		chr1	TogoVar
SRRM4_chr12_118976541_119168051	119135886	C C	CTGTGCCT others(25): Show CTGTGCCTTGGGCTAATAATAATCATATTATTA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA19058.hp2 NA18943.hp2 NA19058.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0005 a0001c0001t0004 a0002c0002t0005	a0001c0001t0004g0311 a0002c0002t0005g0068 a0001c0001t0004g0311 a0002c0002t0005g0068	2	328	0.0061	32	c.771 others(49): Show c.771+5053_771+5054insGTGCCTTGGGCTAATAATAATCATATTA TTAT	SRRM4	ENSG00000139767.10	transcript	ENST00000267260.5	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRRM5_chr19_43607088_43619498	43609359	G G	GGAGAGAG others(25): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 NA18945.hp1 NA19080.hp2 HG02922.hp2 NA18945.hp1 NA19080.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	3	416	0.0072	32	c.-27 others(43): Show c.-2763_-2762insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	SRRM5	ENSG00000226763.5	transcript	ENST00000417606.3	protein_coding		2728		chr19	TogoVar
SRXN1_chr20_641615_658200	642100	T T	TGGGGGGG others(25): Show TGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0007 a0001c0002t0004g0007	1	422	0.0024	32	c.66 others(43): Show c.6613_*6614insCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4514		chr20	TogoVar
SRXN1_chr20_641615_658200	642100	T T	TGGGGGGG others(25): Show TGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02647.hp1 HG02572.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	2	422	0.0047	32	c.66 others(43): Show c.6613_*6614insCAGGCAACCCCATCCCCGCTGGGCCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4514		chr20	TogoVar
SRXN1_chr20_641615_658200	642271	G G	GCCCAGCG others(25): Show GCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02818.hp1 HG02970.hp1 others(1): Show HG01109.hp2 HG02818.hp1 HG02970.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0014 a0001c0001t0001 a0001c0001t0003 a0001c0002t0014	a0001c0001t0001g0036 a0001c0001t0003g0077 a0001c0002t0014g0025 a0001c0001t0001g0036 a0001c0001t0003g0077 a0001c0002t0014g0025	4	422	0.0095	32	c.64 others(43): Show c.6442_*6443insGCCCCCCCCCAGGCAACTCCACCCCCGCTGGG	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4343		chr20	TogoVar
SRXN1_chr20_641615_658200	642362	G G	GCCCAGCG others(25): Show GCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	422	0.0024	32	c.63 others(43): Show c.6351_*6352insGCCCCCCCCCAGGCAACTCCACCCCCGCTGGG	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4252		chr20	TogoVar
SRXN1_chr20_641615_658200	642391	G G	GCCCAGCG others(25): Show GCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	422	0.0024	32	c.63 others(43): Show c.6322_*6323insGCCCCCCCCCAGGCAACTCCACCCCCGCTGGG	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4223		chr20	TogoVar

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Search Results (Total: 10000 hits)