JoGo: Joint Open Genome and Omics Platform

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
CSH1_chr17_63889918_63901574	63898164	C C	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	30	c.-16 others(41): Show c.-1654_-1653insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1591		chr17	TogoVar
CSK_chr15_74777080_74808197	74786013	T T	TTTTTTTT others(23): Show TTTTTTTTTTTTTTTTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA18522.hp1 HG03927.hp1 NA18522.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0003c0007t0004 a0001c0001t0001 a0003c0007t0004	a0001c0001t0001g0078 a0003c0007t0004g0141 a0001c0001t0001g0078 a0003c0007t0004g0141	2	394	0.0051	30	c.-66 others(47): Show c.-66+3294_-66+3295insTTTTTTTTTTTTTTGTGTGTGTGTGTGT GT	CSK	ENSG00000103653.17	transcript	ENST00000220003.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
CSK_chr15_74777080_74808197	74786013	T T	TTTTTTTT others(23): Show TTTTTTTTTTTTTTTTTTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00738.hp2 HG01099.hp1 others(3): Show HG00438.hp1 HG00738.hp2 HG01099.hp1 HG01358.hp2 HG03710.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0084 a0001c0001t0001g0085 others(1): Show a0001c0001t0001g0022 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0154	6	394	0.0152	30	c.-66 others(47): Show c.-66+3294_-66+3295insTTTTTTTTTTTTTTTTGTGTGTGTGTGT GT	CSK	ENSG00000103653.17	transcript	ENST00000220003.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
CSK_chr15_74777080_74808197	74786013	T T	TTTTTTTT others(23): Show TTTTTTTTTTTTTTTTTTTTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01069.hp1 HG01071.hp2 others(17): Show HG00558.hp2 HG01069.hp1 HG01071.hp2 HG01106.hp2 HG01109.hp1 HG02080.hp1 HG02129.hp1 HG02523.hp2 NA18939.hp2 NA18940.hp2 NA18945.hp2 NA18950.hp1 NA18960.hp2 NA18968.hp1 NA18981.hp1 NA18983.hp2 NA18986.hp1 NA19063.hp2 NA19072.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0010 a0001c0003t0001 a0001c0001t0001 a0001c0001t0010 a0001c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0037 a0001c0001t0001g0088 others(4): Show a0001c0001t0001g0003 a0001c0001t0001g0037 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0010g0037 a0001c0003t0001g0089	20	394	0.0508	30	c.-66 others(47): Show c.-66+3294_-66+3295insTTTTTTTTTTTTTTTTTTGTGTGTGTGT GT	CSK	ENSG00000103653.17	transcript	ENST00000220003.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
CSK_chr15_74777080_74808197	74786013	T T	TTTTTTTT others(23): Show TTTTTTTTTTTTTTTTTTTTTTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA18946.hp2 NA18963.hp2 others(2): Show HG03831.hp2 NA18946.hp2 NA18963.hp2 NA18970.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0024 a0001c0001t0001g0096 a0001c0001t0001g0097	5	394	0.0127	30	c.-66 others(47): Show c.-66+3294_-66+3295insTTTTTTTTTTTTTTTTTTTTGTGTGTGT GT	CSK	ENSG00000103653.17	transcript	ENST00000220003.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
CSMD1_chr8_2930361_4999914	3182841	G G	GGGGTGTG others(23): Show GGGGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03139.hp2 HG06807.hp2 others(2): Show HG01081.hp2 HG03139.hp2 HG06807.hp2 NA18979.hp1 NA18983.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0033 a0001c0061 a0001c0068 others(2): Show a0001c0033 a0001c0061 a0001c0068 a0002c0036 a0005c0107	a0001c0033t0003 a0001c0061t0001 a0001c0068t0015 others(2): Show a0001c0033t0003 a0001c0061t0001 a0001c0068t0015 a0002c0036t0029 a0005c0107t0068	a0001c0033t0003g0059 a0001c0061t0001g0021 a0001c0068t0015g0049 others(2): Show a0001c0033t0003g0059 a0001c0061t0001g0021 a0001c0068t0015g0049 a0002c0036t0029g0009 a0005c0107t0068g0073	5	126	0.0397	30	c.562 others(49): Show c.5621-1628_5621-1627insACACACACACACACACACACACACAC ACCC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	36/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3182841	G G	GGTGTGTG others(23): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0071 a0001c0071	a0001c0071t0069 a0001c0071t0069	a0001c0071t0069g0115 a0001c0071t0069g0115	1	126	0.0079	30	c.562 others(49): Show c.5621-1657_5621-1628dupACACACACACACACACACACACACAC ACAC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	36/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3411986	A A	ATATGTAT others(23): Show ATATGTATACGTGTATATACACGTATATATG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01934.hp1 HG01123.hp2 HG01934.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0019 a0001c0003t0008 a0001c0003t0019	a0001c0003t0008g0053 a0001c0003t0019g0107 a0001c0003t0008g0053 a0001c0003t0019g0107	2	126	0.0159	30	c.156 others(49): Show c.1562-2382_1562-2381insCATATATACGTGTATATACACGTATA CATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3412081	T T	TATATATA others(23): Show TATATATACACACGTATATATACATATATAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0028 a0028	a0028c0097 a0028c0097	a0028c0097t0018 a0028c0097t0018	a0028c0097t0018g0089 a0028c0097t0018g0089	1	126	0.0079	30	c.156 others(49): Show c.1562-2506_1562-2477dupGTATATATGTATATATACGTGTGTAT ATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3439281	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0105 a0001c0105	a0001c0105t0001 a0001c0105t0001	a0001c0105t0001g0029 a0001c0105t0001g0029	1	126	0.0079	30	c.156 others(51): Show c.1561+29430_1561+29431insTATATATATATATATATATATATA TATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3439281	G G	GTGTGTAT others(23): Show GTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0053 a0002c0053	a0002c0053t0022 a0002c0053t0022	a0002c0053t0022g0041 a0002c0053t0022g0041	1	126	0.0079	30	c.156 others(51): Show c.1561+29430_1561+29431insTATATATATATATATATATATATA TACACA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3520020	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0054 a0002c0054	a0002c0054t0079 a0002c0054t0079	a0002c0054t0079g0096 a0002c0054t0079g0096	1	126	0.0079	30	c.134 others(51): Show c.1345-26295_1345-26294insTATATATATATATATATATATATA TATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3671481	A A	AATCATAT others(23): Show AATCATATATATGATCATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0010 a0010	a0010c0112 a0010c0112	a0010c0112t0081 a0010c0112t0081	a0010c0112t0081g0090 a0010c0112t0081g0090	1	126	0.0079	30	c.100 others(51): Show c.1009+36932_1009+36933insCATATATATATATATGATCATATA TATGAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	7/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3709680	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0002 a0002	a0002c0048 a0002c0048	a0002c0048t0013 a0002c0048t0013	a0002c0048t0013g0015 a0002c0048t0013g0015	1	126	0.0079	30	c.932 others(47): Show c.932-1190_932-1189insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	6/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3893339	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA18995.hp2 HG02055.hp2 NA18995.hp2	a0003 a0039 a0003 a0039	a0003c0057 a0039c0009 a0003c0057 a0039c0009	a0003c0057t0080 a0039c0009t0001 a0003c0057t0080 a0039c0009t0001	a0003c0057t0080g0075 a0039c0009t0001g0002 a0003c0057t0080g0075 a0039c0009t0001g0002	2	126	0.0159	30	c.818 others(51): Show c.818+104563_818+104564insTATATATATATATATATATATATA TATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3893339	T T	TTATATAT others(23): Show TTATATATGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01255.hp1 HG01934.hp2 others(5): Show HG00438.hp2 HG01255.hp1 HG01934.hp2 HG02074.hp2 HG02129.hp2 NA18982.hp2 NA18984.hp2 NA18995.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0003 a0001c0005 a0001c0007 others(5): Show a0001c0003 a0001c0005 a0001c0007 a0001c0081 a0001c0109 a0002c0031 a0002c0091 a0004c0099	a0001c0003t0013 a0001c0005t0002 a0001c0007t0032 others(5): Show a0001c0003t0013 a0001c0005t0002 a0001c0007t0032 a0001c0081t0037 a0001c0109t0038 a0002c0031t0015 a0002c0091t0002 a0004c0099t0014	a0001c0003t0013g0026 a0001c0005t0002g0111 a0001c0007t0032g0033 others(5): Show a0001c0003t0013g0026 a0001c0005t0002g0111 a0001c0007t0032g0033 a0001c0081t0037g0030 a0001c0109t0038g0013 a0002c0031t0015g0001 a0002c0091t0002g0114 a0004c0099t0014g0020	8	126	0.0635	30	c.818 others(51): Show c.818+104563_818+104564insTATATATATATATATATATATACA TATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3926108	C C	CCATACAC others(23): Show CCATACACACACACACACACACAAACACCAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA18983.hp1 NA19060.hp1 HG01074.hp2 NA18983.hp1 NA19060.hp1	a0001 a0004 a0001 a0004	a0001c0007 a0001c0061 a0004c0056 a0001c0007 a0001c0061 a0004c0056	a0001c0007t0001 a0001c0061t0001 a0004c0056t0062 a0001c0007t0001 a0001c0061t0001 a0004c0056t0062	a0001c0007t0001g0035 a0001c0061t0001g0021 a0004c0056t0062g0072 a0001c0007t0001g0035 a0001c0061t0001g0021 a0004c0056t0062g0072	3	126	0.0238	30	c.818 others(49): Show c.818+71794_818+71795insATGGTGTTTGTGTGTGTGTGTGTGTG TATG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4077307	A A	ATATATAT others(23): Show ATATATATATGTATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02647.hp2 HG03195.hp1 others(2): Show HG02615.hp1 HG02647.hp2 HG03195.hp1 HG03669.hp2 HG04204.hp2	a0001 a0002 a0026 a0001 a0002 a0026	a0001c0001 a0002c0054 a0002c0084 others(1): Show a0001c0001 a0002c0054 a0002c0084 a0026c0082	a0001c0001t0002 a0001c0001t0039 a0002c0054t0079 others(2): Show a0001c0001t0002 a0001c0001t0039 a0002c0054t0079 a0002c0084t0018 a0026c0082t0052	a0001c0001t0002g0102 a0001c0001t0039g0017 a0002c0054t0079g0096 others(2): Show a0001c0001t0002g0102 a0001c0001t0039g0017 a0002c0054t0079g0096 a0002c0084t0018g0087 a0026c0082t0052g0097	5	126	0.0397	30	c.416 others(49): Show c.416-45209_416-45208insCACATATATATATATATATACATATA TATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4717310	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0079 a0001c0079	a0001c0079t0072 a0001c0079t0072	a0001c0079t0072g0113 a0001c0079t0072g0113	1	126	0.0079	30	c.86- others(47): Show c.86-79753_86-79752insATATATATATATATATATATATATATAT AT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112370023	G G	GGAAGAAG others(23): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp2 HG02055.hp1 HG02280.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0010 a0001c0001 a0002c0010	a0001c0001t0004 a0002c0010t0006 a0001c0001t0004 a0002c0010t0006	a0001c0001t0004g0007 a0002c0010t0006g0064 a0001c0001t0004g0007 a0002c0010t0006g0064	2	80	0.0250	30	c.613 others(51): Show c.6136+10299_6136+10328dupTTCTTCTTCTTCTTCTTCTTCTTC TTCTTC	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	38/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112405220	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0015 a0001c0001t0004g0015	1	80	0.0125	30	c.580 others(49): Show c.5809+1303_5809+1304insGTATATATATATATATATATATATAT ATAT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	35/70			chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149542634	A A	ATACATGT others(23): Show ATACATGTATGTGTATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0342 a0001c0001t0002g0342	1	390	0.0026	30	c.230 others(47): Show c.230+7440_230+7441insCACATATATATATATATACACATACATG TA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149542638	A A	ATACATGT others(23): Show ATACATGTATGTATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA19009.hp1 NA19054.hp1 HG00621.hp2 NA19009.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0367 a0001c0001t0002g0371 a0001c0001t0002g0376 a0001c0001t0002g0367 a0001c0001t0002g0371 a0001c0001t0002g0376	3	390	0.0077	30	c.230 others(47): Show c.230+7436_230+7437insCATATATATATATATATATACATACATG TA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149544758	T T	TATATATA others(23): Show TATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	390	0.0026	30	c.230 others(47): Show c.230+5316_230+5317insGTGTGTGTATATATATATATATATATAT AT	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1G1_chr15_64160525_64361173	64231417	G G	GTATATAT others(23): Show GTATATATATATTAGGATATATATGTATATA	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18999.hp1 NA19054.hp1 others(1): Show NA18962.hp2 NA18999.hp1 NA19054.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0128 a0001c0001t0004g0129 a0001c0001t0004g0133 others(1): Show a0001c0001t0004g0128 a0001c0001t0004g0129 a0001c0001t0004g0133 a0001c0001t0004g0134	4	176	0.0227	30	c.293 others(49): Show c.293-14705_293-14704insTATATACATATATATCCTAATATATA TATA	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	4/11			chr15	TogoVar
CSNK1G1_chr15_64160525_64361173	64238518	A A	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0148 a0001c0001t0003g0148	1	176	0.0057	30	c.292 others(49): Show c.292+12993_292+12994insATATATATATATATATATATATATTT TTTT	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	4/11			chr15	TogoVar
CSNK1G1_chr15_64160525_64361173	64238518	A A	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0175 a0001c0001t0005g0175	1	176	0.0057	30	c.292 others(49): Show c.292+12993_292+12994insATATATATATATATATATATATATAT TTTT	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	4/11			chr15	TogoVar
CSNK1G1_chr15_64160525_64361173	64343208	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01169.hp1 HG02965.hp2 others(11): Show HG00621.hp2 HG01169.hp1 HG02965.hp2 HG03710.hp2 NA18957.hp1 NA18999.hp2 NA19003.hp1 NA19054.hp1 NA19054.hp2 NA19067.hp1 NA19067.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0018 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0018 a0001c0001t0030 a0001c0002t0001 a0001c0003t0002	a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0078 others(11): Show a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0078 a0001c0001t0004g0133 a0001c0001t0004g0134 a0001c0001t0018g0136 a0001c0001t0030g0130 a0001c0002t0001g0024 a0001c0002t0001g0027 a0001c0002t0001g0055 a0001c0002t0001g0095 a0001c0002t0001g0098 a0001c0002t0001g0100 a0001c0003t0002g0085	14	176	0.0796	30	c.-22 others(51): Show c.-225+12779_-225+12780insGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	1/11			chr15	TogoVar
CSNK2A1_chr20_467498_548790	485107	A A	ATAATAAT others(23): Show ATAATAATAATAATAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0002 a0001c0001t0089g0002	1	316	0.0032	30	c.106 others(49): Show c.1061-1032_1061-1031insATATATATATATATATTATTATTATT ATTA	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A1_chr20_467498_548790	485109	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0126 a0001c0001t0005g0126	1	316	0.0032	30	c.106 others(49): Show c.1061-1034_1061-1033insATATATATATATTTTTTTTTTTTTTT TTTT	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A1_chr20_467498_548790	485109	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0273 a0001c0001t0004g0273	1	316	0.0032	30	c.106 others(49): Show c.1061-1034_1061-1033insATATATATATATATATATATTTTTTT TTTT	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A1_chr20_467498_548790	485109	A A	AAAATATA others(23): Show AAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0234 a0001c0001t0004g0234	1	316	0.0032	30	c.106 others(49): Show c.1061-1034_1061-1033insATATATATATATATATATATATATAT ATTT	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A1_chr20_467498_548790	485109	A A	AATAATAA others(23): Show AATAATAATAATAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0003 a0001c0001t0037g0003	1	316	0.0032	30	c.106 others(49): Show c.1061-1034_1061-1033insATATATATATATATATATTATTATTA TTAT	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A2_chr16_58152907_58203106	58155976	T T	TGAGGAGG others(23): Show TGAGGAGGAGCTGAAGACAGTTTTTGTGGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0048 a0001c0001t0008g0048	1	400	0.0025	30	c.23 others(41): Show c.2394_*2395insTACCACAAAAACTGTCTTCAGCTCCTCCTC	CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding		1930		chr16	TogoVar
CSNK2A2_chr16_58152907_58203106	58171958	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00673.hp1 HG01993.hp2 others(2): Show HG00609.hp1 HG00673.hp1 HG01993.hp2 HG02886.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0001g0104 others(2): Show a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0163 a0001c0001t0001g0255	5	400	0.0125	30	c.429 others(47): Show c.429+2492_429+2493insATATATATATATATATATATATATATAT AT	CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding	5/11			chr16	TogoVar
CSNK2A2_chr16_58152907_58203106	58171979	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18994.hp2 HG02165.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0096 a0001c0001t0001g0081 a0001c0001t0001g0096	2	400	0.0050	30	c.429 others(47): Show c.429+2471_429+2472insAATATATATATATATATATATATATATA TA	CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding	5/11			chr16	TogoVar
CSNK2A2_chr16_58152907_58203106	58171979	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	400	0.0025	30	c.429 others(47): Show c.429+2471_429+2472insAAAATATATATATATATATATATATATA TA	CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding	5/11			chr16	TogoVar
CSNKA2IP_chr3_88333456_88472594	88457695	C C	CAAAATAA others(23): Show CAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0245 a0004c0005t0001g0247 a0004c0005t0001g0245 a0004c0005t0001g0247	2	386	0.0052	30	c.-27 others(49): Show c.-270-7362_-270-7333dupAAAATAAAATAAAATAAAATAAAATA AAAT	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CSPP1_chr8_67059392_67201614	67083548	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0028 a0002c0004t0003g0028	1	158	0.0063	30	c.200 others(47): Show c.200-2458_200-2457insAAAAAAAAAAAAAATATATATATATATA TA	CSPP1	ENSG00000104218.16	transcript	ENST00000678616.1	protein_coding	3/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
CSRNP3_chr2_165464698_165694407	165466966	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0010 a0002c0003t0010	a0002c0003t0010g0067 a0002c0003t0010g0067	1	246	0.0041	30	c.-30 others(41): Show c.-3057_-3056insATATATATATATATATATATATATATATAT	CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding		2731		chr2	TogoVar
CSRNP3_chr2_165464698_165694407	165477483	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA20129.hp1 HG02647.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0083 a0001c0001t0028 a0001c0001t0083	a0001c0001t0028g0074 a0001c0001t0083g0075 a0001c0001t0028g0074 a0001c0001t0083g0075	2	246	0.0081	30	c.-28 others(49): Show c.-283+7758_-283+7759insTATATATATATATATATATATATATA TATA	CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CST8_chr20_23486117_23501010	23490200	T T	TTATATAT others(23): Show TTATATATATAAATTATATATATATAATTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	440	0.0023	30	c.-12 others(41): Show c.-1286_-1285insTATATATATAAATTATATATATATAATTAA	CST8	ENSG00000125815.9	transcript	ENST00000246012.2	protein_coding		916		chr20	TogoVar
CT45A6_chrX_135789685_135807787	135803958	A A	AGAAAGAG others(23): Show AGAAAGAGAGAGAAAGAAAAAAAGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	36	0.0278	30	c.-14 others(41): Show c.-1455_-1454insCTTCCTTCTTTTTTTCTTTCTCTCTCTTTC	CT45A6	ENSG00000278289.5	transcript	ENST00000620654.2	protein_coding		1172		chrX	TogoVar
CTCF_chr16_67557526_67644177	67584334	C C	CGTCTTTT others(23): Show CGTCTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	168	0.0060	30	c.-10 others(49): Show c.-10+13070_-10+13071insGTCTTTTTTTTTTTTTTTTTTTTTTT TTTT	CTCF	ENSG00000102974.16	transcript	ENST00000264010.10	protein_coding	2/11			chr16	TogoVar
CTDP1_chr18_79674803_79759503	79739776	A A	AGGACGGG others(23): Show AGGACGGGTGGGACTCTCATACCCACGGCCG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02055.hp2 HG01081.hp2 HG02055.hp2	a0001 a0002 a0001 a0002	a0001c0028 a0002c0006 a0001c0028 a0002c0006	a0001c0028t0001 a0002c0006t0001 a0001c0028t0001 a0002c0006t0001	a0001c0028t0001g0202 a0002c0006t0001g0221 a0001c0028t0001g0202 a0002c0006t0001g0221	2	378	0.0053	30	c.274 others(49): Show c.2747+3661_2747+3690dupTCATACCCACGGCCGGGACGGGTGGG ACTC	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDSP2_chr12_57814927_57851729	57818182	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	346	0.0029	30	c.53 others(41): Show c.5390_*5419dupAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CTDSP2	ENSG00000175215.11	transcript	ENST00000398073.7	protein_coding		1744		chr12	TogoVar
CTDSPL2_chr15_44422629_44534038	44506025	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	234	0.0043	30	c.969 others(47): Show c.969+6234_969+6235insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CTDSPL2	ENSG00000137770.14	transcript	ENST00000260327.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
CTDSPL2_chr15_44422629_44534038	44507952	C C	CTGTATTT others(23): Show CTGTATTTTATAGATAGGGAAACTGAGGTAT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0044 a0001c0002t0005g0044	1	234	0.0043	30	c.970 others(47): Show c.970-6645_970-6616dupTGTATTTTATAGATAGGGAAACTGAGGT AT	CTDSPL2	ENSG00000137770.14	transcript	ENST00000260327.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
CTIF_chr18_48534031_48868217	48568633	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0116 a0001c0003t0001g0116	1	144	0.0069	30	c.-29 others(49): Show c.-29+29327_-29+29356dupAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	CTIF	ENSG00000134030.14	transcript	ENST00000256413.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTIF_chr18_48534031_48868217	48699392	A A	ATGGGGCT others(23): Show ATGGGGCTGGGGCTGGGGCTGGGGCTGGGGC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0019 a0001c0001t0018g0019	1	144	0.0069	30	c.508 others(49): Show c.508-12211_508-12182dupGGCTGGGGCTGGGGCTGGGGCTGGGG CTGG	CTIF	ENSG00000134030.14	transcript	ENST00000256413.8	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr18	TogoVar

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Search Results (Total: 10000 hits)