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	status	chr	external
SLC12A2_chr5_128078766_128194677	128126966	A A	ATATATAT others(23): Show ATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0036 a0001c0002t0036	a0001c0002t0036g0031 a0001c0002t0036g0031	1	354	0.0028	30	c.104 others(49): Show c.1049-4100_1049-4099insATATATATATATATATATATTTTTTT TTTT	SLC12A2	ENSG00000064651.14	transcript	ENST00000262461.7	protein_coding	4/26	INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC12A2_chr5_128078766_128194677	128183594	T T	TAGAATGC others(23): Show TAGAATGCCATTCATGTTATTTTACTGTTAA	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0224 a0001c0001t0012g0224	1	354	0.0028	30	c.329 others(47): Show c.3299+655_3299+684dupGAATGCCATTCATGTTATTTTACTGTTA AA	SLC12A2	ENSG00000064651.14	transcript	ENST00000262461.7	protein_coding	24/26	INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070045	G G	GAGCCCCC others(23): Show GAGCCCCCAGCACACGGCATCACACTTACGC	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA20129.hp1 HG03453.hp2 NA20129.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0005 a0001c0010t0005	a0001c0010t0005g0024 a0001c0010t0005g0025 a0001c0010t0005g0024 a0001c0010t0005g0025	2	118	0.0170	30	c.224 others(49): Show c.2241+3587_2241+3588insGCGTAAGTGTGATGCCGTGTGCTGGG GGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070048	C C	CCCCCAGC others(23): Show CCCCCAGCACACGGGCATCACACTTATGCAG	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02965.hp1 HG01993.hp1 HG02965.hp1	a0002 a0002	a0002c0002 a0002c0015 a0002c0002 a0002c0015	a0002c0002t0002 a0002c0015t0015 a0002c0002t0002 a0002c0015t0015	a0002c0002t0002g0066 a0002c0015t0015g0085 a0002c0002t0002g0066 a0002c0015t0015g0085	2	118	0.0170	30	c.224 others(49): Show c.2241+3584_2241+3585insCTGCATAAGTGTGATGCCCGTGTGCT GGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070182	G G	GAGCCCCC others(23): Show GAGCCCCCAGCACACGGCATCACACTTATGC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03209.hp1 HG02486.hp1 HG03209.hp1	a0001 a0001	a0001c0005 a0001c0009 a0001c0005 a0001c0009	a0001c0005t0009 a0001c0009t0006 a0001c0005t0009 a0001c0009t0006	a0001c0005t0009g0003 a0001c0009t0006g0017 a0001c0005t0009g0003 a0001c0009t0006g0017	2	118	0.0170	30	c.224 others(49): Show c.2241+3450_2241+3451insGCATAAGTGTGATGCCGTGTGCTGGG GGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070185	C C	CCCCCAGC others(23): Show CCCCCAGCACACGGGCATCACACTTATGCAG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG03927.hp1 NA18990.hp2 others(1): Show HG02071.hp1 HG03927.hp1 NA18990.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0010 a0002c0002 a0002c0008 others(1): Show a0001c0010 a0002c0002 a0002c0008 a0002c0022	a0001c0010t0005 a0002c0002t0002 a0002c0008t0002 others(1): Show a0001c0010t0005 a0002c0002t0002 a0002c0008t0002 a0002c0022t0016	a0001c0010t0005g0024 a0002c0002t0002g0068 a0002c0008t0002g0062 others(1): Show a0001c0010t0005g0024 a0002c0002t0002g0068 a0002c0008t0002g0062 a0002c0022t0016g0065	4	118	0.0339	30	c.224 others(49): Show c.2241+3447_2241+3448insCTGCATAAGTGTGATGCCCGTGTGCT GGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070523	G G	GAGCCCCC others(23): Show GAGCCCCCAGCACACGGCATCACACTTATGC	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0067 a0002c0008t0002g0067	1	118	0.0085	30	c.224 others(49): Show c.2241+3109_2241+3110insGCATAAGTGTGATGCCGTGTGCTGGG GGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070523	G G	GAGCCCCC others(23): Show GAGCCCCCAGCACACGGTATCACACTTATGC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0058 a0001c0014t0003g0058	1	118	0.0085	30	c.224 others(49): Show c.2241+3109_2241+3110insGCATAAGTGTGATACCGTGTGCTGGG GGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070781	G G	GAGCCCCC others(23): Show GAGCCCCCAGCACACGGCATCACACTTATGC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02622.hp2 HG02071.hp1 HG02622.hp2	a0002 a0002	a0002c0002 a0002c0022 a0002c0002 a0002c0022	a0002c0002t0002 a0002c0022t0016 a0002c0002t0002 a0002c0022t0016	a0002c0002t0002g0106 a0002c0022t0016g0065 a0002c0002t0002g0106 a0002c0022t0016g0065	2	118	0.0170	30	c.224 others(49): Show c.2241+2851_2241+2852insGCATAAGTGTGATGCCGTGTGCTGGG GGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070781	G G	GAGCCCCC others(23): Show GAGCCCCCAGCACACGGTATCACACTTATGC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03195.hp2 HG03098.hp1 HG03195.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0003 a0002c0012t0024 a0002c0012t0003 a0002c0012t0024	a0002c0012t0003g0074 a0002c0012t0024g0073 a0002c0012t0003g0074 a0002c0012t0024g0073	2	118	0.0170	30	c.224 others(49): Show c.2241+2851_2241+2852insGCATAAGTGTGATACCGTGTGCTGGG GGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070784	C C	CCCCCAGC others(23): Show CCCCCAGCACACGGGCATCACACTTATGCAG	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0083 a0002c0002t0002g0083	1	118	0.0085	30	c.224 others(49): Show c.2241+2848_2241+2849insCTGCATAAGTGTGATGCCCGTGTGCT GGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071286	G G	GAGCCCCC others(23): Show GAGCCCCCAGCACACGGCATCACACTTATGC	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19091.hp1 NA19074.hp1 NA19091.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0099 a0002c0002t0008g0100 a0002c0002t0008g0099 a0002c0002t0008g0100	2	118	0.0170	30	c.224 others(49): Show c.2241+2346_2241+2347insGCATAAGTGTGATGCCGTGTGCTGGG GGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071286	G G	GAGCCCCC others(23): Show GAGCCCCCAGCACACGGTATCACACTTATGC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0018 a0001c0003t0017g0018	1	118	0.0085	30	c.224 others(49): Show c.2241+2346_2241+2347insGCATAAGTGTGATACCGTGTGCTGGG GGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071289	C C	CCCCCAGC others(23): Show CCCCCAGCACACGGGCATCACACTTATGCAG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02071.hp1 HG02895.hp2 others(2): Show HG01192.hp1 HG02071.hp1 HG02895.hp2 NA19055.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0010 a0001c0029 others(2): Show a0001c0001 a0001c0010 a0001c0029 a0002c0002 a0002c0022	a0001c0001t0007 a0001c0010t0005 a0001c0029t0007 others(2): Show a0001c0001t0007 a0001c0010t0005 a0001c0029t0007 a0002c0002t0002 a0002c0022t0016	a0001c0001t0007g0090 a0001c0010t0005g0024 a0001c0029t0007g0012 others(2): Show a0001c0001t0007g0090 a0001c0010t0005g0024 a0001c0029t0007g0012 a0002c0002t0002g0098 a0002c0022t0016g0065	5	118	0.0424	30	c.224 others(49): Show c.2241+2343_2241+2344insCTGCATAAGTGTGATGCCCGTGTGCT GGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072040	G G	GAGCCCCC others(23): Show GAGCCCCCAGCACACGGCATCACACTTATGC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02273.hp1 HG03927.hp1 others(1): Show HG02071.hp1 HG02273.hp1 HG03927.hp1 NA18943.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0008 others(1): Show a0002c0002 a0002c0004 a0002c0008 a0002c0022	a0002c0002t0002 a0002c0004t0001 a0002c0008t0002 others(1): Show a0002c0002t0002 a0002c0004t0001 a0002c0008t0002 a0002c0022t0016	a0002c0002t0002g0045 a0002c0004t0001g0070 a0002c0008t0002g0062 others(1): Show a0002c0002t0002g0045 a0002c0004t0001g0070 a0002c0008t0002g0062 a0002c0022t0016g0065	4	118	0.0339	30	c.224 others(49): Show c.2241+1592_2241+1593insGCATAAGTGTGATGCCGTGTGCTGGG GGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072043	C C	CCCCCAGC others(23): Show CCCCCAGCACACGGGCATCACACTTATGCAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03453.hp2 HG03579.hp2 others(1): Show HG00639.hp1 HG03453.hp2 HG03579.hp2 HG06807.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0001c0010 a0004c0027 a0001c0003 a0001c0010 a0004c0027	a0001c0003t0003 a0001c0010t0005 a0004c0027t0004 a0001c0003t0003 a0001c0010t0005 a0004c0027t0004	a0001c0003t0003g0004 a0001c0010t0005g0025 a0001c0010t0005g0026 others(1): Show a0001c0003t0003g0004 a0001c0010t0005g0025 a0001c0010t0005g0026 a0004c0027t0004g0029	4	118	0.0339	30	c.224 others(49): Show c.2241+1589_2241+1590insCTGCATAAGTGTGATGCCCGTGTGCT GGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072043	C C	CCCCCAGC others(23): Show CCCCCAGCACACGGGTATCACACTTATGCAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0058 a0001c0014t0003g0058	1	118	0.0085	30	c.224 others(49): Show c.2241+1589_2241+1590insCTGCATAAGTGTGATACCCGTGTGCT GGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072135	G G	GAGCCCCC others(23): Show GAGCCCCCAGCACACGGCATCACACTTATGC	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA19079.hp2 HG03927.hp1 NA19079.hp2	a0002 a0002	a0002c0002 a0002c0008 a0002c0002 a0002c0008	a0002c0002t0002 a0002c0008t0002 a0002c0002t0002 a0002c0008t0002	a0002c0002t0002g0102 a0002c0008t0002g0062 a0002c0002t0002g0102 a0002c0008t0002g0062	2	118	0.0170	30	c.224 others(49): Show c.2241+1497_2241+1498insGCATAAGTGTGATGCCGTGTGCTGGG GGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072135	G G	GAGCCCCC others(23): Show GAGCCCCCAGCACACGGTATCACACTTATGC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0024 a0002c0012t0024	a0002c0012t0024g0073 a0002c0012t0024g0073	1	118	0.0085	30	c.224 others(49): Show c.2241+1497_2241+1498insGCATAAGTGTGATACCGTGTGCTGGG GGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072138	C C	CCCCCAGC others(23): Show CCCCCAGCACACGGGCATCACACTTATGCAG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02155.hp1 HG03579.hp2 others(3): Show HG02071.hp1 HG02155.hp1 HG03579.hp2 NA18906.hp1 NA19055.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0010 a0001c0017 others(3): Show a0001c0003 a0001c0010 a0001c0017 a0001c0020 a0002c0002 a0002c0022	a0001c0003t0003 a0001c0010t0005 a0001c0017t0004 others(3): Show a0001c0003t0003 a0001c0010t0005 a0001c0017t0004 a0001c0020t0001 a0002c0002t0002 a0002c0022t0016	a0001c0003t0003g0019 a0001c0010t0005g0026 a0001c0017t0004g0020 others(3): Show a0001c0003t0003g0019 a0001c0010t0005g0026 a0001c0017t0004g0020 a0001c0020t0001g0089 a0002c0002t0002g0098 a0002c0022t0016g0065	6	118	0.0509	30	c.224 others(49): Show c.2241+1494_2241+1495insCTGCATAAGTGTGATGCCCGTGTGCT GGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072138	C C	CCCCCAGC others(23): Show CCCCCAGCACACGGGTATCACACTTATGCAG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0004 a0002c0025t0004	a0002c0025t0004g0061 a0002c0025t0004g0061	1	118	0.0085	30	c.224 others(49): Show c.2241+1494_2241+1495insCTGCATAAGTGTGATACCCGTGTGCT GGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072229	G G	GAGCCCCC others(23): Show GAGCCCCCAGCACACGGCATCACACTTATGC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02071.hp2 HG02155.hp1 others(7): Show HG00639.hp1 HG02071.hp2 HG02155.hp1 HG02622.hp1 HG03453.hp1 HG03579.hp2 HG03654.hp1 HG03927.hp1 NA18990.hp1 NA19055.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0007 a0001c0010 a0001c0020 others(5): Show a0001c0007 a0001c0010 a0001c0020 a0002c0002 a0002c0008 a0002c0015 a0002c0025 a0004c0027	a0001c0007t0012 a0001c0010t0005 a0001c0020t0001 others(5): Show a0001c0007t0012 a0001c0010t0005 a0001c0020t0001 a0002c0002t0002 a0002c0008t0002 a0002c0015t0001 a0002c0025t0004 a0004c0027t0004	a0001c0007t0012g0001 a0001c0010t0005g0026 a0001c0020t0001g0089 others(7): Show a0001c0007t0012g0001 a0001c0010t0005g0026 a0001c0020t0001g0089 a0002c0002t0002g0083 a0002c0002t0002g0098 a0002c0002t0002g0110 a0002c0008t0002g0062 a0002c0015t0001g0027 a0002c0025t0004g0061 a0004c0027t0004g0029	10	118	0.0848	30	c.224 others(49): Show c.2241+1403_2241+1404insGCATAAGTGTGATGCCGTGTGCTGGG GGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072232	C C	CCCCCAGC others(23): Show CCCCCAGCACACGGGCATCACACTTATGCAG	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0044 a0001c0005t0002g0044	1	118	0.0085	30	c.224 others(49): Show c.2241+1400_2241+1401insCTGCATAAGTGTGATGCCCGTGTGCT GGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072232	C C	CCCCCAGC others(23): Show CCCCCAGCACACGGGTATCACACTTATGCAG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0038 a0002c0038	a0002c0038t0014 a0002c0038t0014	a0002c0038t0014g0118 a0002c0038t0014g0118	1	118	0.0085	30	c.224 others(49): Show c.2241+1400_2241+1401insCTGCATAAGTGTGATACCCGTGTGCT GGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072323	G G	GAGCCCCC others(23): Show GAGCCCCCAGCACACGGCATCACACTTATGC	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0070 a0002c0004t0001g0070	1	118	0.0085	30	c.224 others(49): Show c.2241+1309_2241+1310insGCATAAGTGTGATGCCGTGTGCTGGG GGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072326	C C	CCCCCAGC others(23): Show CCCCCAGCACACGGGCATCACACTTATGCAG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02451.hp2 HG02486.hp2 others(1): Show HG02071.hp1 HG02451.hp2 HG02486.hp2 NA19055.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0002c0008 others(1): Show a0001c0003 a0002c0002 a0002c0008 a0002c0022	a0001c0003t0017 a0002c0002t0002 a0002c0008t0004 others(1): Show a0001c0003t0017 a0002c0002t0002 a0002c0008t0004 a0002c0022t0016	a0001c0003t0017g0018 a0002c0002t0002g0098 a0002c0008t0004g0080 others(1): Show a0001c0003t0017g0018 a0002c0002t0002g0098 a0002c0008t0004g0080 a0002c0022t0016g0065	4	118	0.0339	30	c.224 others(49): Show c.2241+1306_2241+1307insCTGCATAAGTGTGATGCCCGTGTGCT GGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072326	C C	CCCCCAGC others(23): Show CCCCCAGCACACGGGTATCACACTTATGCAG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0059 a0001c0014t0003g0059	1	118	0.0085	30	c.224 others(49): Show c.2241+1306_2241+1307insCTGCATAAGTGTGATACCCGTGTGCT GGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072459	G G	GAGCCCCC others(23): Show GAGCCCCCAGCACACGGCATCACACTTATGC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0015 a0002c0015t0015	a0002c0015t0015g0085 a0002c0015t0015g0085	1	118	0.0085	30	c.224 others(49): Show c.2241+1173_2241+1174insGCATAAGTGTGATGCCGTGTGCTGGG GGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072462	C C	CCCCCAGC others(23): Show CCCCCAGCACACGGGCATCACACTTATGCAG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02071.hp1 HG02071.hp2 others(3): Show HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02683.hp1 HG03654.hp2 NA19055.hp1	a0001 a0002 a0001 a0002	a0001c0032 a0002c0002 a0002c0004 others(1): Show a0001c0032 a0002c0002 a0002c0004 a0002c0022	a0001c0032t0001 a0002c0002t0002 a0002c0004t0001 others(1): Show a0001c0032t0001 a0002c0002t0002 a0002c0004t0001 a0002c0022t0016	a0001c0032t0001g0111 a0002c0002t0002g0083 a0002c0002t0002g0088 others(3): Show a0001c0032t0001g0111 a0002c0002t0002g0083 a0002c0002t0002g0088 a0002c0002t0002g0098 a0002c0004t0001g0036 a0002c0022t0016g0065	6	118	0.0509	30	c.224 others(49): Show c.2241+1170_2241+1171insCTGCATAAGTGTGATGCCCGTGTGCT GGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072512	G G	GAGCCCCC others(23): Show GAGCCCCCAGCACACGGCATCACACTTATGC	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18990.hp1 NA18943.hp1 NA18990.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0045 a0002c0002t0002g0110 a0002c0002t0002g0045 a0002c0002t0002g0110	2	118	0.0170	30	c.224 others(49): Show c.2241+1120_2241+1121insGCATAAGTGTGATGCCGTGTGCTGGG GGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072515	C C	CCCCCAGC others(23): Show CCCCCAGCACACGGGCATCACACTTATGCAG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03453.hp2 NA18990.hp2 HG02895.hp2 HG03453.hp2 NA18990.hp2	a0001 a0002 a0001 a0002	a0001c0010 a0001c0029 a0002c0002 a0001c0010 a0001c0029 a0002c0002	a0001c0010t0005 a0001c0029t0007 a0002c0002t0002 a0001c0010t0005 a0001c0029t0007 a0002c0002t0002	a0001c0010t0005g0025 a0001c0029t0007g0012 a0002c0002t0002g0068 a0001c0010t0005g0025 a0001c0029t0007g0012 a0002c0002t0002g0068	3	118	0.0254	30	c.224 others(49): Show c.2241+1117_2241+1118insCTGCATAAGTGTGATGCCCGTGTGCT GGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072515	C C	CCCCCAGC others(23): Show CCCCCAGCACACGGGTATCACACTTATGCAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0058 a0001c0014t0003g0058	1	118	0.0085	30	c.224 others(49): Show c.2241+1117_2241+1118insCTGCATAAGTGTGATACCCGTGTGCT GGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072515	C C	CCTCCAGC others(23): Show CCTCCAGCACACGGGCATCACACTTATGCAG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0004 a0001c0017t0004	a0001c0017t0004g0020 a0001c0017t0004g0020	1	118	0.0085	30	c.224 others(49): Show c.2241+1117_2241+1118insCTGCATAAGTGTGATGCCCGTGTGCT GGAG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072605	G G	GAGCCCCC others(23): Show GAGCCCCCAGCACACGGCATCACACTTATGC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02040.hp2 HG03654.hp1 HG01192.hp1 HG02040.hp2 HG03654.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0032 a0002c0025 a0001c0001 a0001c0032 a0002c0025	a0001c0001t0007 a0001c0032t0001 a0002c0025t0004 a0001c0001t0007 a0001c0032t0001 a0002c0025t0004	a0001c0001t0007g0090 a0001c0032t0001g0111 a0002c0025t0004g0061 a0001c0001t0007g0090 a0001c0032t0001g0111 a0002c0025t0004g0061	3	118	0.0254	30	c.224 others(49): Show c.2241+1027_2241+1028insGCATAAGTGTGATGCCGTGTGCTGGG GGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072605	G G	GAGCCCCC others(23): Show GAGCCCCCAGCACACGGTATCACACTTATGC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0018 a0001c0003t0017g0018	1	118	0.0085	30	c.224 others(49): Show c.2241+1027_2241+1028insGCATAAGTGTGATACCGTGTGCTGGG GGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072608	C C	CCCCCAGC others(23): Show CCCCCAGCACACGGGCATCACACTTATGCAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03579.hp1 NA18943.hp1 HG00639.hp1 HG03579.hp1 NA18943.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0002c0016 a0004c0027 a0002c0002 a0002c0016 a0004c0027	a0002c0002t0002 a0002c0016t0001 a0004c0027t0004 a0002c0002t0002 a0002c0016t0001 a0004c0027t0004	a0002c0002t0002g0045 a0002c0016t0001g0057 a0004c0027t0004g0029 a0002c0002t0002g0045 a0002c0016t0001g0057 a0004c0027t0004g0029	3	118	0.0254	30	c.224 others(49): Show c.2241+1024_2241+1025insCTGCATAAGTGTGATGCCCGTGTGCT GGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072658	G G	GAGCCCCC others(23): Show GAGCCCCCAGCACACGGCATCACACTTATGC	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA18990.hp1 HG02486.hp2 NA18990.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0017 a0002c0002t0002 a0001c0003t0017 a0002c0002t0002	a0001c0003t0017g0018 a0002c0002t0002g0110 a0001c0003t0017g0018 a0002c0002t0002g0110	2	118	0.0170	30	c.224 others(47): Show c.2241+974_2241+975insGCATAAGTGTGATGCCGTGTGCTGGGGG CT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072661	C C	CCCCCAGC others(23): Show CCCCCAGCACACGGGCATCACACTTACGCAG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0012 a0001c0007t0012	a0001c0007t0012g0001 a0001c0007t0012g0001	1	118	0.0085	30	c.224 others(47): Show c.2241+971_2241+972insCTGCGTAAGTGTGATGCCCGTGTGCTGG GG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072661	C C	CCCCCAGC others(23): Show CCCCCAGCACACGGGCATCACACTTATGCAG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG03579.hp1 others(3): Show HG02895.hp1 HG02897.hp2 HG03579.hp1 HG06807.hp2 NA18942.hp1 NA18990.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0006 a0002c0002 others(2): Show a0001c0003 a0001c0006 a0002c0002 a0002c0004 a0002c0016	a0001c0003t0003 a0001c0006t0011 a0002c0002t0002 others(2): Show a0001c0003t0003 a0001c0006t0011 a0002c0002t0002 a0002c0004t0001 a0002c0016t0001	a0001c0003t0003g0004 a0001c0006t0011g0078 a0001c0006t0011g0079 others(3): Show a0001c0003t0003g0004 a0001c0006t0011g0078 a0001c0006t0011g0079 a0002c0002t0002g0068 a0002c0004t0001g0092 a0002c0016t0001g0057	6	118	0.0509	30	c.224 others(47): Show c.2241+971_2241+972insCTGCATAAGTGTGATGCCCGTGTGCTGG GG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072661	C C	CCCCCAGC others(23): Show CCCCCAGCACACGGGTATCACACTTATGCAG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0059 a0001c0014t0003g0059	1	118	0.0085	30	c.224 others(47): Show c.2241+971_2241+972insCTGCATAAGTGTGATACCCGTGTGCTGG GG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072752	G G	GAGCCCCC others(23): Show GAGCCCCCAGCACACGGTATCACACTTATGC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0018 a0001c0003t0017g0018	1	118	0.0085	30	c.224 others(47): Show c.2241+880_2241+881insGCATAAGTGTGATACCGTGTGCTGGGGG CT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072755	C C	CCCCCAGC others(23): Show CCCCCAGCACACGGGCATCACACTTATGCAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02895.hp2 NA18942.hp1 HG00639.hp1 HG02895.hp2 NA18942.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0029 a0002c0004 a0004c0027 a0001c0029 a0002c0004 a0004c0027	a0001c0029t0007 a0002c0004t0001 a0004c0027t0004 a0001c0029t0007 a0002c0004t0001 a0004c0027t0004	a0001c0029t0007g0012 a0002c0004t0001g0092 a0004c0027t0004g0029 a0001c0029t0007g0012 a0002c0004t0001g0092 a0004c0027t0004g0029	3	118	0.0254	30	c.224 others(47): Show c.2241+877_2241+878insCTGCATAAGTGTGATGCCCGTGTGCTGG GG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072755	C C	CCCCCAGC others(23): Show CCCCCAGCACACGGGTATCACACTTATGCAG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03654.hp1 HG03209.hp1 HG03654.hp1	a0001 a0002 a0001 a0002	a0001c0009 a0002c0025 a0001c0009 a0002c0025	a0001c0009t0006 a0002c0025t0004 a0001c0009t0006 a0002c0025t0004	a0001c0009t0006g0017 a0002c0025t0004g0061 a0001c0009t0006g0017 a0002c0025t0004g0061	2	118	0.0170	30	c.224 others(47): Show c.2241+877_2241+878insCTGCATAAGTGTGATACCCGTGTGCTGG GG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072849	C C	CCCCCAGC others(23): Show CCCCCAGCACACGGGCATCACACTTATGCAG	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA18906.hp2 NA18942.hp1 others(1): Show HG02155.hp1 NA18906.hp2 NA18942.hp1 NA19055.hp1	a0001 a0002 a0001 a0002	a0001c0014 a0001c0020 a0002c0002 others(1): Show a0001c0014 a0001c0020 a0002c0002 a0002c0004	a0001c0014t0003 a0001c0020t0001 a0002c0002t0002 others(1): Show a0001c0014t0003 a0001c0020t0001 a0002c0002t0002 a0002c0004t0001	a0001c0014t0003g0059 a0001c0020t0001g0089 a0002c0002t0002g0098 others(1): Show a0001c0014t0003g0059 a0001c0020t0001g0089 a0002c0002t0002g0098 a0002c0004t0001g0092	4	118	0.0339	30	c.224 others(47): Show c.2241+783_2241+784insCTGCATAAGTGTGATGCCCGTGTGCTGG GG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072849	C C	CCTCCAGC others(23): Show CCTCCAGCACACGGGCATCACACTTATGCAG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0004 a0001c0017t0004	a0001c0017t0004g0020 a0001c0017t0004g0020	1	118	0.0085	30	c.224 others(47): Show c.2241+783_2241+784insCTGCATAAGTGTGATGCCCGTGTGCTGG AG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072941	G G	GAGCCCCC others(23): Show GAGCCCCCAGCACACGGCATCACACTTATGC	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0070 a0002c0004t0001g0070	1	118	0.0085	30	c.224 others(47): Show c.2241+691_2241+692insGCATAAGTGTGATGCCGTGTGCTGGGGG CT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072944	C C	CCCCCAGC others(23): Show CCCCCAGCACACGGGCATCACACTTATGCAG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02622.hp1 HG03579.hp2 others(2): Show HG02071.hp1 HG02622.hp1 HG03579.hp2 HG06807.hp2 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0007 a0001c0010 others(2): Show a0001c0003 a0001c0007 a0001c0010 a0002c0002 a0002c0022	a0001c0003t0003 a0001c0007t0012 a0001c0010t0005 others(2): Show a0001c0003t0003 a0001c0007t0012 a0001c0010t0005 a0002c0002t0002 a0002c0022t0016	a0001c0003t0003g0004 a0001c0007t0012g0001 a0001c0010t0005g0026 others(2): Show a0001c0003t0003g0004 a0001c0007t0012g0001 a0001c0010t0005g0026 a0002c0002t0002g0102 a0002c0022t0016g0065	5	118	0.0424	30	c.224 others(47): Show c.2241+688_2241+689insCTGCATAAGTGTGATGCCCGTGTGCTGG GG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1073078	G G	GAGCCCCC others(23): Show GAGCCCCCAGCACACGGCATCACACTTATGC	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02622.hp2 HG02273.hp1 HG02622.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0002 a0002c0004t0001 a0002c0002t0002 a0002c0004t0001	a0002c0002t0002g0106 a0002c0004t0001g0070 a0002c0002t0002g0106 a0002c0004t0001g0070	2	118	0.0170	30	c.224 others(47): Show c.2241+554_2241+555insGCATAAGTGTGATGCCGTGTGCTGGGGG CT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1073081	C C	CCCCCAGC others(23): Show CCCCCAGCACACGGGCATCACACTTATGCAG	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA18522.hp2 NA19074.hp1 others(1): Show HG03209.hp1 NA18522.hp2 NA19074.hp1 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0009 a0002c0002 a0002c0012 a0001c0009 a0002c0002 a0002c0012	a0001c0009t0006 a0002c0002t0008 a0002c0012t0003 a0001c0009t0006 a0002c0002t0008 a0002c0012t0003	a0001c0009t0006g0017 a0002c0002t0008g0099 a0002c0002t0008g0100 others(1): Show a0001c0009t0006g0017 a0002c0002t0008g0099 a0002c0002t0008g0100 a0002c0012t0003g0075	4	118	0.0339	30	c.224 others(47): Show c.2241+551_2241+552insCTGCATAAGTGTGATGCCCGTGTGCTGG GG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1073081	C C	CCCCCAGC others(23): Show CCCCCAGCACACGGGTATCACACTTATGCAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0058 a0001c0014t0003g0058	1	118	0.0085	30	c.224 others(47): Show c.2241+551_2241+552insCTGCATAAGTGTGATACCCGTGTGCTGG GG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23		chr5	TogoVar

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Search Results (Total: 10000 hits)