Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
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	a0001c0001t0001g0029 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0029 a0001c0001t0001g0130 a0001c0001t0001g0131	5	168	0.0298	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 a0002c0036t0030 a0005c0107t0066	a0001c0033t0003g0059 a0001c0061t0001g0021 a0001c0068t0015g0049 others(2): Show a0001c0033t0003g0059 a0001c0061t0001g0021 a0001c0068t0015g0049 a0002c0036t0030g0009 a0005c0107t0066g0073	5	13	0.3846	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	a0001c0071t0067 a0001c0071t0067	a0001c0071t0067g0115 a0001c0071t0067g0115	1	9	0.1111	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	97	0.0206	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	a0009 a0009	a0009c0097 a0009c0097	a0009c0097t0017 a0009c0097t0017	a0009c0097t0017g0089 a0009c0097t0017g0089	1	108	0.0093	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	106	0.0094	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	106	0.0094	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	75	0.0133	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	a0020 a0020	a0020c0112 a0020c0112	a0020c0112t0081 a0020c0112t0081	a0020c0112t0081g0090 a0020c0112t0081g0090	1	49	0.0204	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	a0002c0048t0011 a0002c0048t0011	a0002c0048t0011g0015 a0002c0048t0011g0015	1	37	0.0270	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	a0004 a0037 a0004 a0037	a0004c0057 a0037c0009 a0004c0057 a0037c0009	a0004c0057t0080 a0037c0009t0001 a0004c0057t0080 a0037c0009t0001	a0004c0057t0080g0075 a0037c0009t0001g0002 a0004c0057t0080g0075 a0037c0009t0001g0002	2	10	0.2000	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 a0003 a0001 a0002 a0003	a0001c0003 a0001c0005 a0001c0007 others(5): Show a0001c0003 a0001c0005 a0001c0007 a0001c0081 a0001c0109 a0002c0031 a0002c0091 a0003c0099	a0001c0003t0011 a0001c0005t0002 a0001c0007t0032 others(5): Show a0001c0003t0011 a0001c0005t0002 a0001c0007t0032 a0001c0081t0036 a0001c0109t0037 a0002c0031t0015 a0002c0091t0002 a0003c0099t0012	a0001c0003t0011g0026 a0001c0005t0002g0111 a0001c0007t0032g0033 others(5): Show a0001c0003t0011g0026 a0001c0005t0002g0111 a0001c0007t0032g0033 a0001c0081t0036g0030 a0001c0109t0037g0013 a0002c0031t0015g0001 a0002c0091t0002g0114 a0003c0099t0012g0020	8	16	0.5000	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 a0003 a0001 a0003	a0001c0007 a0001c0061 a0003c0056 a0001c0007 a0001c0061 a0003c0056	a0001c0007t0001 a0001c0061t0001 a0003c0056t0062 a0001c0007t0001 a0001c0061t0001 a0003c0056t0062	a0001c0007t0001g0035 a0001c0061t0001g0021 a0003c0056t0062g0072 a0001c0007t0001g0035 a0001c0061t0001g0021 a0003c0056t0062g0072	3	83	0.0361	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 a0019 a0001 a0002 a0019	a0001c0001 a0002c0054 a0002c0084 others(1): Show a0001c0001 a0002c0054 a0002c0084 a0019c0082	a0001c0001t0002 a0001c0001t0038 a0002c0054t0079 others(2): Show a0001c0001t0002 a0001c0001t0038 a0002c0054t0079 a0002c0084t0017 a0019c0082t0051	a0001c0001t0002g0102 a0001c0001t0038g0017 a0002c0054t0079g0096 others(2): Show a0001c0001t0002g0102 a0001c0001t0038g0017 a0002c0054t0079g0096 a0002c0084t0017g0087 a0019c0082t0051g0097	5	119	0.0420	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	a0001c0079t0070 a0001c0079t0070	a0001c0079t0070g0113 a0001c0079t0070g0113	1	60	0.0167	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	12	0.1667	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	68	0.0147	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	a0001c0001t0002g0338 a0001c0001t0002g0338	1	381	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	a0001c0001t0002g0362 a0001c0001t0002g0366 a0001c0001t0002g0371 a0001c0001t0002g0362 a0001c0001t0002g0366 a0001c0001t0002g0371	3	371	0.0081	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	a0001c0001t0001g0015 a0001c0001t0001g0015	1	281	0.0036	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	174	0.0230	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	47	0.0213	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	47	0.0213	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	35	0.4000	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	a0001c0001t0089g0003 a0001c0001t0089g0003	1	180	0.0056	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	a0001c0001t0005g0128 a0001c0001t0005g0128	1	127	0.0079	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	a0001c0001t0004g0272 a0001c0001t0004g0272	1	127	0.0079	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	a0001c0001t0004g0233 a0001c0001t0004g0233	1	127	0.0079	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	a0001c0001t0037g0004 a0001c0001t0037g0004	1	127	0.0079	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	a0001c0001t0008g0057 a0001c0001t0008g0057	1	398	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	a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0106 others(2): Show a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0159 a0001c0001t0001g0242	5	273	0.0183	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	a0001c0001t0001g0012 a0001c0001t0001g0087 a0001c0001t0001g0012 a0001c0001t0001g0087	2	254	0.0079	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	a0001c0001t0001g0094 a0001c0001t0001g0094	1	253	0.0040	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	a0004c0005t0001g0006 a0004c0005t0001g0006	2	101	0.0198	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	87	0.0115	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	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0068 a0002c0003t0009g0068	1	128	0.0078	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	a0001c0001t0025 a0001c0001t0077 a0001c0001t0025 a0001c0001t0077	a0001c0001t0025g0075 a0001c0001t0077g0076 a0001c0001t0025g0075 a0001c0001t0077g0076	2	150	0.0133	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	260	0.0038	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	a0001c0001t0001g0003 a0001c0001t0001g0003	1	35	0.0286	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	163	0.0061	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	a0001c0028t0001g0201 a0002c0006t0001g0222 a0001c0028t0001g0201 a0002c0006t0001g0222	2	19	0.1053	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	a0001c0001t0001g0153 a0001c0001t0001g0153	1	21	0.0476	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	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	151	0.0066	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	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0040 a0001c0002t0004g0040	1	232	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	24	0.0417	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	60	0.0167	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
CTNNA1_chr5_138748425_138940034	138777903	A A	AGAGGAGG others(23): Show AGAGGAGGGAGAGGGGGAGGAGGGAGAGGGG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01243.hp1 HG02074.hp2 others(2): Show HG00741.hp1 HG01243.hp1 HG02074.hp2 HG02486.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0002t0003g0032 others(2): Show a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0002t0003g0032 a0001c0002t0003g0033 a0001c0002t0003g0044	5	59	0.0847	30	c.-2- others(45): Show c.-2-3985_-2-3956dupAGGGAGAGGGGGAGGAGGGAGAGGGGGAGG	CTNNA1	ENSG00000044115.21	transcript	ENST00000302763.12	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
CTNNA1_chr5_138748425_138940034	138777937	G G	GAGGGAGA others(23): Show GAGGGAGAGGGGGAGGAGGGAGAGGGGGAGA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02451.hp2 HG02559.hp2 others(9): Show HG02257.hp1 HG02451.hp2 HG02559.hp2 HG02622.hp1 HG02970.hp2 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03579.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018	12	178	0.0674	30	c.-2- others(45): Show c.-2-3957_-2-3956insAAGGGAGAGGGGGAGGAGGGAGAGGGGGAG	CTNNA1	ENSG00000044115.21	transcript	ENST00000302763.12	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
CTNNA2_chr2_79508051_80653780	79818821	T T	TTTTATAT others(23): Show TTTTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03130.hp1 HG02572.hp2 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0001 a0001c0007t0001 a0001c0002t0001 a0001c0007t0001	a0001c0002t0001g0007 a0001c0007t0001g0068 a0001c0002t0001g0007 a0001c0007t0001g0068	2	14	0.1429	30	c.299 others(49): Show c.299-39191_299-39190insTTATATATATATATATATATATATAT ATAT	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA2_chr2_79508051_80653780	80559891	T T	TTTATATA others(23): Show TTTATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03225.hp1 HG02257.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0022 a0001c0002t0001g0004 a0001c0002t0001g0022	2	49	0.0408	30	c.174 others(49): Show c.1741+3998_1741+3999insTTATATATATATATATATATATATAC ACAC	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	12/18			chr2	TogoVar

Search by Variant

Search

Search Results