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
PTPRJ_chr11_47975559_48175839	48046913	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0023 a0001c0006t0023	a0001c0006t0023g0215 a0001c0006t0023g0215	1	199	0.0050	19	c.97- others(36): Show c.97-63145_97-63144insATATATATATATATATATA	PTPRJ	ENSG00000149177.15	transcript	ENST00000418331.7	protein_coding	1/24			chr11	TogoVar
PTPRJ_chr11_47975559_48175839	48049565	C C	CAAAACAA others(12): Show CAAAACAAAACAAAACAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0075 a0001c0003t0002g0075	1	209	0.0048	19	c.97- others(36): Show c.97-60491_97-60490insAACAAAACAAAACAAAAAA	PTPRJ	ENSG00000149177.15	transcript	ENST00000418331.7	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTPRK_chr6_127963785_128525599	128174853	T T	TGCACTCA others(12): Show TGCACTCACAGAGCCTAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02559.hp2 NA21309.hp2 HG00280.hp1 HG02559.hp2 NA21309.hp2	a0001 a0001	a0001c0012 a0001c0013 a0001c0014 a0001c0012 a0001c0013 a0001c0014	a0001c0012t0001 a0001c0013t0002 a0001c0014t0007 a0001c0012t0001 a0001c0013t0002 a0001c0014t0007	a0001c0012t0001g0049 a0001c0013t0002g0045 a0001c0014t0007g0005 a0001c0012t0001g0049 a0001c0013t0002g0045 a0001c0014t0007g0005	3	52	0.0577	19	c.116 others(38): Show c.1162+9578_1162+9579insTTTTAGGCTCTGTGAGTGC	PTPRK	ENSG00000152894.15	transcript	ENST00000368226.9	protein_coding	7/29			chr6	TogoVar
PTPRM_chr18_7562316_8411856	8372056	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0053 a0001c0002t0001g0053	1	31	0.0323	19	c.317 others(38): Show c.3171+1058_3171+1076dupTTTTTTTTTTTTTTTTTTT	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	24/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRO_chr12_15317508_15603331	15448339	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01167.hp2 HG01243.hp1 others(8): Show HG00423.hp1 HG01167.hp2 HG01243.hp1 HG01934.hp1 HG02074.hp2 HG02083.hp1 HG06807.hp2 NA18943.hp1 NA18988.hp2 NA18989.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0004t0001 a0001c0007t0001	a0001c0001t0001g0091 a0001c0001t0001g0122 a0001c0001t0001g0139 others(8): Show a0001c0001t0001g0091 a0001c0001t0001g0122 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0002t0001g0133 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0003g0129 a0001c0003t0001g0106 a0001c0004t0001g0055 a0001c0007t0001g0053	11	36	0.3056	19	c.76- others(36): Show c.76-35632_76-35614dupAAAAAAAAAAAAAAAAAAA	PTPRO	ENSG00000151490.15	transcript	ENST00000281171.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
PTPRO_chr12_15317508_15603331	15473768	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0051 a0001c0003t0001g0051	1	44	0.0227	19	c.76- others(36): Show c.76-10202_76-10184dupAAAAAAAAAAAAAAAAAAA	PTPRO	ENSG00000151490.15	transcript	ENST00000281171.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
PTPRR_chr12_70633079_70925738	70821213	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02683.hp2 HG04228.hp2 others(2): Show HG02027.hp2 HG02683.hp2 HG04228.hp2 NA18945.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0029 a0001c0001t0001g0055 a0001c0001t0001g0126 others(2): Show a0001c0001t0001g0029 a0001c0001t0001g0055 a0001c0001t0001g0126 a0001c0001t0001g0132 a0001c0001t0005g0203	5	10	0.5000	19	c.358 others(38): Show c.358-56454_358-56436dupAAAAAAAAAAAAAAAAAAA	PTPRR	ENSG00000153233.13	transcript	ENST00000283228.7	protein_coding	2/13			chr12	TogoVar
PTPRS_chr19_5200508_5345812	5228347	G G	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0003 a0001c0027t0003	a0001c0027t0003g0036 a0001c0027t0003g0036	1	29	0.0345	19	c.237 others(36): Show c.2376+968_2376+969insTTTTTTTTTTTTTTTTTTT	PTPRS	ENSG00000105426.19	transcript	ENST00000262963.11	protein_coding	16/37			chr19	TogoVar
PTPRS_chr19_5200508_5345812	5272595	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01361.hp2 HG00735.hp1 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0179 a0001c0001t0001g0180	2	15	0.1333	19	c.379 others(34): Show c.379+828_379+846dupTTTTTTTTTTTTTTTTTTT	PTPRS	ENSG00000105426.19	transcript	ENST00000262963.11	protein_coding	4/37			chr19	TogoVar
PTPRS_chr19_5200508_5345812	5305939	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0006 a0001c0009t0006	a0001c0009t0006g0154 a0001c0009t0006g0154	1	30	0.0333	19	c.-94 others(38): Show c.-94-19724_-94-19706dupTTTTTTTTTTTTTTTTTTT	PTPRS	ENSG00000105426.19	transcript	ENST00000262963.11	protein_coding	1/37			chr19	TogoVar
PTPRS_chr19_5200508_5345812	5343739	G G	GCCGGAGC others(12): Show GCCGGAGCGTGGAAGCCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0028 a0001c0009t0028	a0001c0009t0028g0105 a0001c0009t0028g0105	1	274	0.0036	19	c.-31 others(30): Show c.-3171_-3170insAAAGGCTTCCACGCTCCGG	PTPRS	ENSG00000105426.19	transcript	ENST00000262963.11	protein_coding		2928		chr19	TogoVar
PTPRT_chr20_42067756_43194906	42363300	A A	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0001 a0002c0004t0002g0001	1	44	0.0227	19	c.156 others(40): Show c.1561-11016_1561-11015insAAAAAAAAAAATATATATA	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	9/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42648820	G G	GTTGTTTT others(12): Show GTTGTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0008 a0004c0006t0008	a0004c0006t0008g0054 a0004c0006t0008g0054	1	23	0.0435	19	c.115 others(40): Show c.1153+29045_1153+29046insAAAAAAAAAAAAAAAACAA	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	7/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	43042708	C C	CCCTCCCA others(12): Show CCCTCCCACCCGCCATCTCT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01109.hp1 HG01109.hp2 others(35): Show HG00741.hp2 HG01109.hp1 HG01109.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01261.hp2 HG01496.hp1 HG02109.hp1 HG02109.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp2 NA19240.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008	a0001c0002 a0001c0003 a0001c0007 others(21): Show a0001c0002 a0001c0003 a0001c0007 a0001c0008 a0001c0018 a0001c0022 a0001c0023 a0001c0026 a0001c0030 a0001c0031 a0002c0001 a0002c0004 a0002c0009 a0002c0011 a0002c0013 a0002c0014 a0002c0015 a0002c0016 a0003c0020 a0003c0024 a0004c0006 a0006c0010 a0007c0012 a0008c0028	a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 others(33): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0014 a0001c0002t0022 a0001c0002t0023 a0001c0003t0001 a0001c0003t0002 a0001c0003t0018 a0001c0003t0020 a0001c0007t0001 a0001c0008t0001 a0001c0008t0005 a0001c0018t0003 a0001c0022t0021 a0001c0023t0007 a0001c0026t0007 a0001c0030t0001 a0001c0031t0001 a0002c0001t0003 a0002c0001t0011 a0002c0001t0025 a0002c0004t0002 a0002c0004t0024 a0002c0009t0001 a0002c0011t0006 a0002c0013t0001 a0002c0014t0007 a0002c0015t0001 a0002c0016t0030 a0003c0020t0016 a0003c0024t0005 a0004c0006t0008 a0006c0010t0009 a0007c0012t0005 a0008c0028t0027	a0001c0002t0002g0058 a0001c0002t0003g0040 a0001c0002t0006g0036 others(35): Show a0001c0002t0002g0058 a0001c0002t0003g0040 a0001c0002t0006g0036 a0001c0002t0006g0039 a0001c0002t0014g0052 a0001c0002t0022g0055 a0001c0002t0023g0044 a0001c0003t0001g0038 a0001c0003t0002g0043 a0001c0003t0018g0046 a0001c0003t0020g0047 a0001c0007t0001g0061 a0001c0008t0001g0060 a0001c0008t0005g0037 a0001c0018t0003g0030 a0001c0022t0021g0045 a0001c0023t0007g0034 a0001c0026t0007g0059 a0001c0030t0001g0035 a0001c0031t0001g0056 a0002c0001t0003g0008 a0002c0001t0011g0019 a0002c0001t0011g0020 a0002c0001t0025g0002 a0002c0004t0002g0005 a0002c0004t0024g0006 a0002c0009t0001g0018 a0002c0011t0006g0003 a0002c0013t0001g0016 a0002c0014t0007g0004 a0002c0015t0001g0013 a0002c0016t0030g0014 a0003c0020t0016g0029 a0003c0024t0005g0032 a0004c0006t0008g0054 a0006c0010t0009g0021 a0007c0012t0005g0017 a0008c0028t0027g0042	38	62	0.6129	19	c.88+ others(38): Show c.88+146919_88+146937dupAGAGATGGCGGGTGGGAGG	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(12): Show ATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	94	0.0106	19	c.364 others(38): Show c.364-10121_364-10120insAAATATATATATATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(12): Show ATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	94	0.0106	19	c.364 others(38): Show c.364-10121_364-10120insAAAAATATATATATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(12): Show ATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0259 a0001c0002t0001g0259	1	94	0.0106	19	c.364 others(38): Show c.364-10121_364-10120insAAAAAAATATATATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(12): Show ATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG04199.hp2 NA18939.hp2 HG01433.hp2 HG04199.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0059 a0001c0001t0004g0084 a0001c0001t0004g0123 a0001c0001t0004g0059 a0001c0001t0004g0084 a0001c0001t0004g0123	3	96	0.0313	19	c.364 others(38): Show c.364-10121_364-10120insAAAAAAAAAAAAATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATTT others(12): Show ATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA18964.hp2 NA18968.hp1 others(1): Show HG03654.hp1 NA18964.hp2 NA18968.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0113 a0001c0001t0004g0115 a0001c0001t0004g0179 others(1): Show a0001c0001t0004g0113 a0001c0001t0004g0115 a0001c0001t0004g0179 a0001c0001t0004g0180	4	97	0.0412	19	c.364 others(38): Show c.364-10121_364-10120insAAAAAAAAAAAAAAATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM2_chr2_20243737_20355844	20261394	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	24	0.0417	19	c.222 others(36): Show c.2226-947_2226-929dupTTTTTTTTTTTTTTTTTTT	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	14/20			chr2	TogoVar
PUM2_chr2_20243737_20355844	20264365	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0207 a0001c0001t0003g0207	1	248	0.0040	19	c.195 others(36): Show c.1958-906_1958-905insATATATATATATATATATA	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	13/20			chr2	TogoVar
PUM2_chr2_20243737_20355844	20264367	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	143	0.0070	19	c.195 others(36): Show c.1958-908_1958-907insATATATATATATATATTTT	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	13/20			chr2	TogoVar
PUM2_chr2_20243737_20355844	20274957	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01358.hp1 HG02451.hp2 others(9): Show HG01257.hp2 HG01358.hp1 HG02451.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02976.hp2 HG03225.hp2 NA18947.hp1 NA18978.hp1 NA19060.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0002t0019 a0001c0003t0009	a0001c0001t0001g0185 a0001c0001t0001g0233 a0001c0001t0002g0044 others(9): Show a0001c0001t0001g0185 a0001c0001t0001g0233 a0001c0001t0002g0044 a0001c0001t0002g0063 a0001c0001t0002g0080 a0001c0001t0008g0227 a0001c0001t0009g0331 a0001c0001t0009g0333 a0001c0001t0013g0315 a0001c0001t0013g0316 a0001c0002t0019g0326 a0001c0003t0009g0336	12	17	0.7059	19	c.195 others(38): Show c.1957+3625_1957+3626insTTTTTTTTTTTTTTTTTTT	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	13/20			chr2	TogoVar
PUM3_chr9_2799152_2849095	2821443	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp2 NA18522.hp2 others(4): Show HG00544.hp1 HG00558.hp2 NA18522.hp2 NA18984.hp1 NA18988.hp2 NA18992.hp2 NA19067.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0010 a0003c0004t0001g0160 a0003c0004t0001g0175 others(1): Show a0003c0004t0001g0010 a0003c0004t0001g0160 a0003c0004t0001g0175 a0003c0004t0001g0311	7	183	0.0383	19	c.118 others(38): Show c.1189-1364_1189-1346dupTTTTTTTTTTTTTTTTTTT	PUM3	ENSG00000080608.10	transcript	ENST00000397885.3	protein_coding	12/17			chr9	TogoVar
PUS3_chr11_125888485_125908206	125904265	T T	TCGCCCCG others(12): Show TCGCCCCGCTCTCTGCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02258.hp2 HG02451.hp1 others(5): Show HG01891.hp1 HG02258.hp2 HG02451.hp1 HG02622.hp2 HG02970.hp2 HG02976.hp2 HG03195.hp1 HG03491.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0003c0006 a0008c0013 a0001c0001 a0003c0006 a0008c0013	a0001c0001t0001 a0003c0006t0002 a0008c0013t0002 a0001c0001t0001 a0003c0006t0002 a0008c0013t0002	a0001c0001t0001g0002 a0003c0006t0002g0017 a0003c0006t0002g0057 others(1): Show a0001c0001t0001g0002 a0003c0006t0002g0017 a0003c0006t0002g0057 a0008c0013t0002g0058	8	169	0.0473	19	c.-11 others(30): Show c.-1161_-1143dupGAGGGCAGAGAGCGGGGCG	PUS3	ENSG00000110060.9	transcript	ENST00000227474.8	protein_coding		1060		chr11	TogoVar
PUS7L_chr12_43713992_43763790	43718807	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 NA18984.hp1 NA19089.hp1 HG00597.hp1 NA18984.hp1 NA19089.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0002 a0002c0002t0003	a0002c0002t0002g0191 a0002c0002t0003g0001 a0002c0002t0003g0011 a0002c0002t0002g0191 a0002c0002t0003g0001 a0002c0002t0003g0011	3	195	0.0154	19	c.11 others(32): Show c.11568_*11569insATATATATATATATATTTT	PUS7L	ENSG00000129317.15	transcript	ENST00000344862.10	protein_coding		184		chr12	TogoVar
PUS7_chr7_105451503_105527271	105456076	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0305 a0001c0001t0002g0305	1	132	0.0076	19	c.17 others(30): Show c.1713_*1714insATATATATATATATATTTT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding		426		chr7	TogoVar
PUS7_chr7_105451503_105527271	105456076	A A	AAATATAT others(12): Show AAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG03209.hp2 HG01192.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0247 a0001c0001t0003g0281 a0001c0001t0001g0247 a0001c0001t0003g0281	2	133	0.0150	19	c.17 others(30): Show c.1713_*1714insATATATATATATATATATT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding		426		chr7	TogoVar
PUS7_chr7_105451503_105527271	105505003	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01517.hp2 HG03688.hp1 others(1): Show HG01256.hp1 HG01517.hp2 HG03688.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0152 a0001c0001t0002g0305 a0001c0001t0002g0308 others(1): Show a0001c0001t0001g0152 a0001c0001t0002g0305 a0001c0001t0002g0308 a0001c0001t0002g0312	4	324	0.0123	19	c.585 others(34): Show c.585+951_585+952insAAAAAAAAAAAAAAAAAAA	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding	4/15			chr7	TogoVar
PUS7_chr7_105451503_105527271	105509184	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02155.hp2 NA18989.hp2 HG02027.hp2 HG02155.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0340 a0001c0001t0004g0346 a0001c0001t0004g0347 a0001c0001t0004g0340 a0001c0001t0004g0346 a0001c0001t0004g0347	3	10	0.3000	19	c.-32 others(34): Show c.-32-659_-32-641dupTTTTTTTTTTTTTTTTTTT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding	1/15			chr7	TogoVar
PUS7_chr7_105451503_105527271	105515791	T T	TTTATTTA others(12): Show TTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	53	0.0189	19	c.-33 others(36): Show c.-33+6260_-33+6261insTAAATAAATAAATAAATAA	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding	1/15			chr7	TogoVar
PVR_chr19_44638910_44671162	44668544	A A	AATTATAT others(12): Show AATTATATAATTATATACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG03098.hp1 HG02647.hp1 HG03098.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0026 a0001c0004t0027 a0001c0004t0026 a0001c0004t0027	a0001c0004t0026g0153 a0001c0004t0027g0128 a0001c0004t0026g0153 a0001c0004t0027g0128	2	409	0.0049	19	c.67 others(30): Show c.6733_*6734insATTATATAATTATATACAT	PVR	ENSG00000073008.16	transcript	ENST00000425690.8	protein_coding		2383		chr19	TogoVar
PXDNL_chr8_51314577_51814445	51455115	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG03579.hp2 NA18906.hp2 HG01975.hp1 HG03579.hp2 NA18906.hp2	a0001 a0011 a0012 a0001 a0011 a0012	a0001c0001 a0011c0013 a0012c0014 a0001c0001 a0011c0013 a0012c0014	a0001c0001t0001 a0011c0013t0001 a0012c0014t0001 a0001c0001t0001 a0011c0013t0001 a0012c0014t0001	a0001c0001t0001g0078 a0011c0013t0001g0058 a0012c0014t0001g0056 a0001c0001t0001g0078 a0011c0013t0001g0058 a0012c0014t0001g0056	3	57	0.0526	19	c.983 others(36): Show c.983-1331_983-1330insTTTTTTTTTTTTTTTTTTT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	9/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51577923	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0033 a0033	a0033c0035 a0033c0035	a0033c0035t0003 a0033c0035t0003	a0033c0035t0003g0011 a0033c0035t0003g0011	1	98	0.0102	19	c.308 others(38): Show c.308+14703_308+14704insCTTTCTTTCTTTCTTTCTT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	3/22			chr8	TogoVar
PXDN_chr2_1626887_1749515	1710673	T T	TCCACCAG others(12): Show TCCACCAGCACCCACTCTCC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG04184.hp1 HG02080.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0045 a0001c0001 a0001c0045	a0001c0001t0002 a0001c0045t0002 a0001c0001t0002 a0001c0045t0002	a0001c0001t0002g0271 a0001c0045t0002g0119 a0001c0001t0002g0271 a0001c0045t0002g0119	2	315	0.0063	19	c.201 others(38): Show c.201-17540_201-17539insGGAGAGTGGGTGCTGGTGG	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1716440	G G	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0241 a0001c0001t0003g0241	1	62	0.0161	19	c.201 others(38): Show c.201-23325_201-23307dupTTTTTTTTTTTTTTTTTTT	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1720610	C C	CGCTCTCT others(12): Show CGCTCTCTCTGCATCTCTTT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0013 a0013	a0013c0038 a0013c0038	a0013c0038t0001 a0013c0038t0001	a0013c0038t0001g0238 a0013c0038t0001g0238	1	320	0.0031	19	c.200 others(38): Show c.200+23645_200+23646insAAAGAGATGCAGAGAGAGC	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXK_chr3_58327892_58431127	58336071	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	248	0.0040	19	c.102 others(36): Show c.102+2982_102+2983insATATATATATATATATATT	PXK	ENSG00000168297.16	transcript	ENST00000356151.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
PXK_chr3_58327892_58431127	58336071	A A	ATATATAT others(12): Show ATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0049 a0001c0005t0007g0049	1	248	0.0040	19	c.102 others(36): Show c.102+2982_102+2983insATATATATATATATATTTT	PXK	ENSG00000168297.16	transcript	ENST00000356151.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
PXK_chr3_58327892_58431127	58378512	T T	TTTTTTTG others(12): Show TTTTTTTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	115	0.0087	19	c.202 others(36): Show c.202-4001_202-4000insTTTTTGTGTGTGTGTGTGT	PXK	ENSG00000168297.16	transcript	ENST00000356151.7	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
PXMP4_chr20_33697758_33725310	33717639	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0045 a0001c0008t0045	a0001c0008t0045g0053 a0001c0008t0045g0053	1	208	0.0048	19	c.113 others(36): Show c.113+2437_113+2455dupTTTTTTTTTTTTTTTTTTT	PXMP4	ENSG00000101417.12	transcript	ENST00000409299.8	protein_coding	1/3			chr20	TogoVar
PXT1_chr6_36385551_36447854	36425800	C C	CAAAAACA others(12): Show CAAAAACAAACAAACAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	376	0.0027	19	c.169 others(34): Show c.169+113_169+114insTTTTTGTTTGTTTGTTTTT	PXT1	ENSG00000179165.12	transcript	ENST00000454782.3	protein_coding	3/4			chr6	TogoVar
PXT1_chr6_36385551_36447854	36425800	C C	CAAAAACA others(12): Show CAAAAACAAACAAACAAACA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	376	0.0027	19	c.169 others(34): Show c.169+113_169+114insTGTTTGTTTGTTTGTTTTT	PXT1	ENSG00000179165.12	transcript	ENST00000454782.3	protein_coding	3/4			chr6	TogoVar
PYCR2_chr1_225914878_225929250	225925498	T T	TTTTATTT others(12): Show TTTTATTTATTATTTATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	295	0.0034	19	c.-13 others(30): Show c.-1389_-1388insTAAATAAATAATAAATAAA	PYCR2	ENSG00000143811.20	transcript	ENST00000343818.11	protein_coding		1249		chr1	TogoVar
PYDC2_chr3_191456163_191466456	191463000	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	415	0.0024	19	c.15 others(30): Show c.1544_*1545insTTCTTTCTTTCTTTCTTTC	PYDC2	ENSG00000253548.1	transcript	ENST00000518817.1	protein_coding		1545		chr3	TogoVar
PYDC2_chr3_191456163_191466456	191463018	T T	TCTCTCTC others(12): Show TCTCTCTCTTTCTCTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	367	0.0027	19	c.15 others(30): Show c.1562_*1563insCTCTCTCTTTCTCTCTTTC	PYDC2	ENSG00000253548.1	transcript	ENST00000518817.1	protein_coding		1563		chr3	TogoVar
PYDC2_chr3_191456163_191466456	191463020	C C	CTCTCTCT others(12): Show CTCTCTCTTCTCTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	103	0.0097	19	c.15 others(30): Show c.1564_*1565insTCTCTCTTCTCTCTTTCTT	PYDC2	ENSG00000253548.1	transcript	ENST00000518817.1	protein_coding		1565		chr3	TogoVar
PYDC2_chr3_191456163_191466456	191463063	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	430	0.0023	19	c.16 others(30): Show c.1607_*1608insTTCTTTCTTTCTTTCTTTC	PYDC2	ENSG00000253548.1	transcript	ENST00000518817.1	protein_coding		1608		chr3	TogoVar
PYGB_chr20_25243085_25303012	25292259	C C	CGGGAGCG others(12): Show CGGGAGCGGGAGTGGGAGCA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0001 a0012c0016t0001	a0012c0016t0001g0246 a0012c0016t0001g0246	1	157	0.0064	19	c.197 others(36): Show c.1970-142_1970-141insCGGGAGTGGGAGCAGGGAG	PYGB	ENSG00000100994.12	transcript	ENST00000216962.9	protein_coding	16/19		INFO_REALIGN_3_PRIME	chr20	TogoVar
PYGO1_chr15_55533884_55593345	55576760	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(75): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02135.hp2 HG02165.hp2 HG02273.hp2 HG02293.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG03017.hp1 HG03041.hp2 HG03130.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03654.hp2 HG03831.hp2 HG04115.hp1 NA18941.hp1 NA18950.hp2 NA18953.hp1 NA18954.hp2 NA18956.hp1 NA18972.hp1 NA18983.hp2 NA18985.hp2 NA18992.hp1 NA19065.hp1 NA19066.hp1 NA19085.hp1 NA20752.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0034 a0001c0001t0043 a0001c0001t0061 a0001c0001t0068 a0001c0001t0069 a0001c0001t0072 a0001c0001t0081 a0003c0005t0016 a0003c0005t0079	a0001c0001t0001g0109 a0001c0001t0002g0057 a0001c0001t0002g0110 others(73): Show a0001c0001t0001g0109 a0001c0001t0002g0057 a0001c0001t0002g0110 a0001c0001t0002g0205 a0001c0001t0002g0223 a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0237 a0001c0001t0002g0239 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0245 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0260 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0305 a0001c0001t0002g0312 a0001c0001t0002g0352 a0001c0001t0002g0354 a0001c0001t0004g0013 a0001c0001t0004g0319 a0001c0001t0004g0335 a0001c0001t0004g0336 a0001c0001t0004g0339 a0001c0001t0004g0342 a0001c0001t0004g0343 a0001c0001t0007g0206 a0001c0001t0007g0207 a0001c0001t0007g0228 a0001c0001t0007g0236 a0001c0001t0007g0238 a0001c0001t0007g0240 a0001c0001t0007g0244 a0001c0001t0007g0248 a0001c0001t0007g0249 a0001c0001t0011g0130 a0001c0001t0014g0224 a0001c0001t0014g0234 a0001c0001t0014g0235 a0001c0001t0014g0246 a0001c0001t0016g0124 a0001c0001t0016g0127 a0001c0001t0016g0128 a0001c0001t0018g0106 a0001c0001t0018g0117 a0001c0001t0018g0118 a0001c0001t0018g0119 a0001c0001t0021g0014 a0001c0001t0021g0092 a0001c0001t0021g0182 a0001c0001t0023g0241 a0001c0001t0023g0263 a0001c0001t0023g0264 a0001c0001t0024g0016 a0001c0001t0024g0017 a0001c0001t0025g0018 a0001c0001t0025g0019 a0001c0001t0027g0277 a0001c0001t0027g0278 a0001c0001t0034g0179 a0001c0001t0043g0369 a0001c0001t0061g0229 a0001c0001t0068g0103 a0001c0001t0069g0340 a0001c0001t0072g0247 a0001c0001t0081g0393 a0003c0005t0016g0126 a0003c0005t0079g0392	78	144	0.5417	19	c.49+ others(36): Show c.49+11074_49+11075insTTTTTTTTTTTTTTTTTTT	PYGO1	ENSG00000171016.13	transcript	ENST00000563719.4	protein_coding	1/2			chr15	TogoVar

Search by Variant

Search

Search Results