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
PNPLA4_chrX_7893247_7932413	7899626	C C	CCAGAGAG others(15): Show CCAGAGAGAGAGAGAGAGAGAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00621.hp1 NA18954.hp2 HG00621.hp1 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0157 a0001c0001t0032g0229 a0001c0001t0032g0157 a0001c0001t0032g0229	2	338	0.0059	22	c.10 others(33): Show c.1059_*1060insTCTCTCTCTCTCTCTCTCTCTG	PNPLA4	ENSG00000006757.12	transcript	ENST00000381042.9	protein_coding	7/7	1059		chrX	TogoVar
PNPLA4_chrX_7893247_7932413	7899626	C C	CGAGAGAG others(15): Show CGAGAGAGAGAGAGAGAGAGAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0071 a0001c0001t0060g0071	1	338	0.0030	22	c.10 others(33): Show c.1038_*1059dupTCTCTCTCTCTCTCTCTCTCTC	PNPLA4	ENSG00000006757.12	transcript	ENST00000381042.9	protein_coding	7/7	1059		chrX	TogoVar
PNPLA8_chr7_108465417_108531135	108467731	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0023 a0001c0001t0018g0023	1	390	0.0026	22	c.46 others(33): Show c.4669_*4670insTTTTTTTTTTTTTTTTTTTTTT	PNPLA8	ENSG00000135241.17	transcript	ENST00000257694.13	protein_coding		2685		chr7	TogoVar
PNPT1_chr2_55629061_55698844	55691878	A A	ATATATAT others(15): Show ATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0118 a0001c0001t0006g0118	1	390	0.0026	22	c.161 others(39): Show c.161+1784_161+1785insAAAAAAAAAATATATATATATA	PNPT1	ENSG00000138035.15	transcript	ENST00000447944.7	protein_coding	1/27			chr2	TogoVar
PODXL_chr7_131495271_131561628	131499777	T T	TTGTTTTT others(15): Show TTGTTTTTACATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01884.hp1 HG02145.hp1 others(5): Show HG00280.hp2 HG01884.hp1 HG02145.hp1 NA19003.hp2 NA19012.hp1 NA19054.hp2 NA19088.hp2 NA21309.hp1	a0003 a0004 a0005 a0003 a0004 a0005	a0003c0005 a0004c0002 a0004c0021 others(1): Show a0003c0005 a0004c0002 a0004c0021 a0005c0004	a0003c0005t0003 a0004c0002t0003 a0004c0002t0008 others(2): Show a0003c0005t0003 a0004c0002t0003 a0004c0002t0008 a0004c0021t0003 a0005c0004t0003	a0003c0005t0003g0385 a0004c0002t0003g0215 a0004c0002t0008g0017 others(4): Show a0003c0005t0003g0385 a0004c0002t0003g0215 a0004c0002t0008g0017 a0004c0021t0003g0007 a0004c0021t0003g0292 a0005c0004t0003g0408 a0005c0004t0003g0430	8	440	0.0182	22	c.45 others(33): Show c.4533_*4534insTATATATATATATGTAAAAACA	PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding		493		chr7	TogoVar
PODXL_chr7_131495271_131561628	131499780	C C	CATATATA others(15): Show CATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 NA18522.hp1 NA19000.hp1 others(1): Show HG03540.hp1 NA18522.hp1 NA19000.hp1 NA19088.hp1	a0002 a0003 a0005 others(1): Show a0002 a0003 a0005 a0006	a0002c0001 a0003c0036 a0005c0004 others(1): Show a0002c0001 a0003c0036 a0005c0004 a0006c0006	a0002c0001t0001 a0003c0036t0001 a0005c0004t0001 others(1): Show a0002c0001t0001 a0003c0036t0001 a0005c0004t0001 a0006c0006t0011	a0002c0001t0001g0060 a0003c0036t0001g0008 a0005c0004t0001g0368 others(1): Show a0002c0001t0001g0060 a0003c0036t0001g0008 a0005c0004t0001g0368 a0006c0006t0011g0002	4	440	0.0091	22	c.45 others(33): Show c.4530_*4531insATATATATATATATATATATAT	PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding		490		chr7	TogoVar
PODXL_chr7_131495271_131561628	131499820	T T	TATATATA others(15): Show TATATATATATATATACACATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0001 a0008c0014t0001	a0008c0014t0001g0036 a0008c0014t0001g0036	1	440	0.0023	22	c.44 others(33): Show c.4490_*4491insGTATGTGTATATATATATATAT	PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding		450		chr7	TogoVar
PODXL_chr7_131495271_131561628	131524379	C C	CACACACA others(15): Show CACACACACAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0049 a0001c0049	a0001c0049t0043 a0001c0049t0043	a0001c0049t0043g0432 a0001c0049t0043g0432	1	440	0.0023	22	c.101 others(41): Show c.101-12947_101-12946insCTCTCTCTCTCTCTGTGTGTGT	PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding	1/8			chr7	TogoVar
PODXL_chr7_131495271_131561628	131524379	C C	CACACACA others(15): Show CACACACAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0123 a0002c0001t0001g0123	1	440	0.0023	22	c.101 others(41): Show c.101-12947_101-12946insCTCTCTCTCTCTCTCTGTGTGT	PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding	1/8			chr7	TogoVar
PODXL_chr7_131495271_131561628	131524379	C C	CACACAGA others(15): Show CACACAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00621.hp1 HG01081.hp2 others(35): Show HG00140.hp1 HG00621.hp1 HG01081.hp2 HG01167.hp2 HG01257.hp1 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01993.hp1 HG02004.hp2 HG02027.hp2 HG02071.hp2 HG02132.hp1 HG06807.hp2 NA18940.hp2 NA18943.hp1 NA18944.hp2 NA18946.hp2 NA18961.hp1 NA18967.hp2 NA18971.hp1 NA18974.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18994.hp2 NA18998.hp2 NA19007.hp1 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19074.hp1 NA19077.hp2 NA19080.hp2 NA19085.hp1 NA19087.hp1 NA19090.hp2 NA20300.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0003 a0002c0001 a0002c0020 others(4): Show a0001c0003 a0002c0001 a0002c0020 a0003c0007 a0004c0002 a0005c0004 a0005c0023	a0001c0003t0002 a0002c0001t0001 a0002c0001t0003 others(12): Show a0001c0003t0002 a0002c0001t0001 a0002c0001t0003 a0002c0001t0015 a0002c0001t0030 a0002c0020t0002 a0002c0020t0004 a0003c0007t0002 a0004c0002t0001 a0004c0002t0003 a0004c0002t0017 a0005c0004t0001 a0005c0004t0003 a0005c0004t0017 a0005c0023t0002	a0001c0003t0002g0237 a0002c0001t0001g0058 a0002c0001t0001g0085 others(35): Show a0001c0003t0002g0237 a0002c0001t0001g0058 a0002c0001t0001g0085 a0002c0001t0001g0088 a0002c0001t0001g0107 a0002c0001t0001g0152 a0002c0001t0001g0164 a0002c0001t0001g0166 a0002c0001t0001g0167 a0002c0001t0001g0176 a0002c0001t0001g0179 a0002c0001t0003g0109 a0002c0001t0003g0111 a0002c0001t0003g0112 a0002c0001t0003g0151 a0002c0001t0015g0096 a0002c0001t0015g0124 a0002c0001t0030g0158 a0002c0020t0002g0065 a0002c0020t0004g0063 a0003c0007t0002g0393 a0004c0002t0001g0195 a0004c0002t0001g0201 a0004c0002t0001g0227 a0004c0002t0001g0255 a0004c0002t0001g0269 a0004c0002t0001g0282 a0004c0002t0001g0283 a0004c0002t0003g0214 a0004c0002t0017g0273 a0005c0004t0001g0356 a0005c0004t0001g0361 a0005c0004t0001g0386 a0005c0004t0001g0405 a0005c0004t0001g0414 a0005c0004t0003g0407 a0005c0004t0017g0399 a0005c0023t0002g0339	38	440	0.0864	22	c.101 others(41): Show c.101-12947_101-12946insCTCTCTCTCTCTCTCTCTGTGT	PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding	1/8			chr7	TogoVar
PODXL_chr7_131495271_131561628	131524379	C C	CACAGAGA others(15): Show CACAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00738.hp2 HG00741.hp2 others(8): Show HG00323.hp1 HG00738.hp2 HG00741.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01517.hp2 HG02155.hp1 HG03669.hp2 NA18963.hp1 NA19004.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0003 a0002c0001 a0004c0002 others(1): Show a0001c0003 a0002c0001 a0004c0002 a0005c0004	a0001c0003t0002 a0001c0003t0025 a0002c0001t0001 others(4): Show a0001c0003t0002 a0001c0003t0025 a0002c0001t0001 a0002c0001t0003 a0002c0001t0021 a0004c0002t0035 a0005c0004t0003	a0001c0003t0002g0198 a0001c0003t0002g0199 a0001c0003t0002g0277 others(8): Show a0001c0003t0002g0198 a0001c0003t0002g0199 a0001c0003t0002g0277 a0001c0003t0025g0016 a0002c0001t0001g0084 a0002c0001t0003g0087 a0002c0001t0003g0093 a0002c0001t0003g0142 a0002c0001t0021g0009 a0004c0002t0035g0213 a0005c0004t0003g0403	11	440	0.0250	22	c.101 others(41): Show c.101-12947_101-12946insCTCTCTCTCTCTCTCTCTCTGT	PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding	1/8			chr7	TogoVar
PODXL_chr7_131495271_131561628	131524379	C C	CAGAGAGA others(15): Show CAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01192.hp1 HG02683.hp2 HG01169.hp1 HG01192.hp1 HG02683.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0003 a0003c0007 a0006c0006 a0001c0003 a0003c0007 a0006c0006	a0001c0003t0002 a0003c0007t0002 a0006c0006t0002 a0001c0003t0002 a0003c0007t0002 a0006c0006t0002	a0001c0003t0002g0313 a0003c0007t0002g0389 a0006c0006t0002g0106 a0001c0003t0002g0313 a0003c0007t0002g0389 a0006c0006t0002g0106	3	440	0.0068	22	c.101 others(41): Show c.101-12968_101-12947dupCTCTCTCTCTCTCTCTCTCTCT	PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding	1/8			chr7	TogoVar
POF1B_chrX_85272396_85384665	85360527	G G	GTGTATAT others(15): Show GTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA18947.hp2 HG03831.hp1 NA18947.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0198 a0001c0002t0004g0199 a0001c0002t0004g0198 a0001c0002t0004g0199	2	227	0.0088	22	c.358 others(37): Show c.358-898_358-897insTATATATATATATATATATACA	POF1B	ENSG00000124429.18	transcript	ENST00000262753.9	protein_coding	3/16			chrX	TogoVar
POLA1_chrX_24688918_25001986	24757436	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03041.hp2 HG03471.hp1 HG02109.hp1 HG03041.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0154 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0154	3	197	0.0152	22	c.296 others(41): Show c.2964+8465_2964+8466insTTTTTTTTTTTTTTTTTTTTTT	POLA1	ENSG00000101868.13	transcript	ENST00000379068.8	protein_coding	26/36		INFO_REALIGN_3_PRIME	chrX	TogoVar
POLA1_chrX_24688918_25001986	24801924	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	197	0.0051	22	c.296 others(41): Show c.2965-7948_2965-7927dupTGTGTGTGTGTGTGTGTGTGTG	POLA1	ENSG00000101868.13	transcript	ENST00000379068.8	protein_coding	26/36		INFO_REALIGN_3_PRIME	chrX	TogoVar
POLD3_chr11_74587582_74648076	74609345	G G	GATATATA others(15): Show GATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02818.hp2 HG04204.hp2 HG02572.hp2 HG02818.hp2 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0047 a0001c0002t0002g0050 a0001c0002t0002g0255 a0001c0002t0002g0047 a0001c0002t0002g0050 a0001c0002t0002g0255	3	400	0.0075	22	c.220 others(39): Show c.220-2147_220-2126dupATATATATATATATATATATAT	POLD3	ENSG00000077514.9	transcript	ENST00000263681.7	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
POLD3_chr11_74587582_74648076	74625871	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0277 a0001c0002t0002g0277	1	400	0.0025	22	c.899 others(37): Show c.899+312_899+333dupGTGTGTGTGTGTGTGTGTGTGT	POLD3	ENSG00000077514.9	transcript	ENST00000263681.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
POLD3_chr11_74587582_74648076	74632877	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03130.hp2 HG03486.hp1 HG02698.hp1 HG03130.hp2 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0002 a0001c0002t0004 a0001c0005t0001 a0001c0002t0002 a0001c0002t0004 a0001c0005t0001	a0001c0002t0002g0246 a0001c0002t0004g0074 a0001c0005t0001g0101 a0001c0002t0002g0246 a0001c0002t0004g0074 a0001c0005t0001g0101	3	400	0.0075	22	c.100 others(41): Show c.1007-1670_1007-1649dupCACACACACACACACACACACA	POLD3	ENSG00000077514.9	transcript	ENST00000263681.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
POLD4_chr11_67345772_67358546	67347633	A A	AAAAAAAA others(15): Show AAAAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	314	0.0032	22	c.43 others(33): Show c.4361_*4362insATATATATATATATATTTTTTT	POLD4	ENSG00000175482.9	transcript	ENST00000312419.8	protein_coding		3138		chr11	TogoVar
POLD4_chr11_67345772_67358546	67347633	A A	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 NA18998.hp1 HG03225.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0002 a0001c0001t0003g0003 a0001c0001t0002g0002 a0001c0001t0003g0003	2	314	0.0064	22	c.43 others(33): Show c.4361_*4362insATATATATATATATATATTTTT	POLD4	ENSG00000175482.9	transcript	ENST00000312419.8	protein_coding		3138		chr11	TogoVar
POLG_chr15_89311320_89339824	89325107	A A	AGTGAGAG others(15): Show AGTGAGAGAGTGAGAGAGAGAGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	398	0.0025	22	c.194 others(39): Show c.1949+342_1949+343insACTCTCTCTCTCACTCTCTCAC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
POLK_chr5_75506891_75614991	75595248	G G	GAAAAAAA others(15): Show GAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03579.hp1 HG02055.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0230 a0001c0001t0009g0234 a0001c0001t0009g0230 a0001c0001t0009g0234	2	356	0.0056	22	c.152 others(39): Show c.1529-970_1529-949dupAAAAAAAAAAAAAAAAAAAAAA	POLK	ENSG00000122008.16	transcript	ENST00000241436.9	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
POLN_chr4_2066918_2247121	2214886	C C	CATACATA others(15): Show CATACATATACATATATATGTAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03098.hp1 HG03579.hp2 others(2): Show HG02965.hp1 HG03098.hp1 HG03579.hp2 NA18522.hp2 NA19030.hp2	a0001 a0006 a0001 a0006	a0001c0003 a0006c0006 a0001c0003 a0006c0006	a0001c0003t0003 a0006c0006t0001 a0001c0003t0003 a0006c0006t0001	a0001c0003t0003g0011 a0001c0003t0003g0012 a0006c0006t0001g0001 others(2): Show a0001c0003t0003g0011 a0001c0003t0003g0012 a0006c0006t0001g0001 a0006c0006t0001g0002 a0006c0006t0001g0003	5	194	0.0258	22	c.134 others(39): Show c.134-1782_134-1761dupATACATATATATGTATATGTAT	POLN	ENSG00000130997.16	transcript	ENST00000511885.6	protein_coding	3/25			chr4	TogoVar
POLQ_chr3_121426431_121550988	121522284	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	318	0.0031	22	c.110 others(39): Show c.1109-157_1109-136dupAAAAAAAAAAAAAAAAAAAAAA	POLQ	ENSG00000051341.15	transcript	ENST00000264233.6	protein_coding	7/29			chr3	TogoVar
POLR1A_chr2_86015216_86110886	86097214	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0047 a0005c0006t0047	a0005c0006t0047g0149 a0005c0006t0047g0149	1	340	0.0029	22	c.432 others(39): Show c.432+1375_432+1396dupTTTTTTTTTTTTTTTTTTTTTT	POLR1A	ENSG00000068654.17	transcript	ENST00000263857.11	protein_coding	3/33			chr2	TogoVar
POLR1G_chr19_45401644_45415737	45410565	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00738.hp1 HG01261.hp1 HG02698.hp2 others(4): Show HG00738.hp1 HG01261.hp1 HG02698.hp2 HG02886.hp2 HG03516.hp1 NA19009.hp1 NA20300.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0004 a0001c0001 a0003c0003 a0004c0004	a0001c0001t0097 a0003c0003t0016 a0004c0004t0106 a0001c0001t0097 a0003c0003t0016 a0004c0004t0106	a0001c0001t0097g0004 a0003c0003t0016g0001 a0003c0003t0016g0013 others(1): Show a0001c0001t0097g0004 a0003c0003t0016g0001 a0003c0003t0016g0013 a0004c0004t0106g0001	7	406	0.0172	22	c.10 others(33): Show c.1075_*1096dupTGTGTGTGTGTGTGTGTGTGTG	POLR1G	ENSG00000117877.11	transcript	ENST00000309424.8	protein_coding	3/3	1097	INFO_REALIGN_3_PRIME	chr19	TogoVar
POLR1H_chr6_30056265_30069907	30062714	C C	CCTTTTTT others(15): Show CCTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	445	0.0023	22	c.356 others(37): Show c.356+381_356+382insCTTTTTTTTTTTTTTTTTTTTT	POLR1H	ENSG00000066379.15	transcript	ENST00000332435.10	protein_coding	3/3			chr6	TogoVar
POLR2B_chr4_56973896_57036158	56996206	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0108 a0001c0002t0001g0108	1	382	0.0026	22	c.735 others(37): Show c.735+809_735+830dupGTGTGTGTGTGTGTGTGTGTGT	POLR2B	ENSG00000047315.17	transcript	ENST00000314595.6	protein_coding	6/24		INFO_REALIGN_3_PRIME	chr4	TogoVar
POLR2C_chr16_57457679_57477009	57475660	A A	ATCTCTCT others(15): Show ATCTCTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	390	0.0026	22	c.45 others(33): Show c.4541_*4542insTCTCTCTCTCTCTCTCTCTCTC	POLR2C	ENSG00000102978.13	transcript	ENST00000219252.10	protein_coding		3652		chr16	TogoVar
POLR2C_chr16_57457679_57477009	57475693	T T	TCTCTCTC others(15): Show TCTCTCTCTCTCTCTCTCTCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	390	0.0026	22	c.45 others(33): Show c.4574_*4575insCTCTCTCTCTCTCTCTCTCTCC	POLR2C	ENSG00000102978.13	transcript	ENST00000219252.10	protein_coding		3685		chr16	TogoVar
POLR2D_chr2_127838553_127863155	127856290	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02273.hp2 HG03486.hp2 others(7): Show HG01993.hp1 HG02273.hp2 HG03486.hp2 HG03710.hp2 NA18947.hp2 NA18949.hp2 NA19030.hp2 NA19055.hp2 NA19058.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0014 a0001c0001t0058	a0001c0001t0001g0006 a0001c0001t0001g0231 a0001c0001t0001g0234 others(3): Show a0001c0001t0001g0006 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0007g0232 a0001c0001t0014g0233 a0001c0001t0058g0235	10	358	0.0279	22	c.73+ others(37): Show c.73+1737_73+1738insTTTTTTTTTTTTTTTTTTTTTT	POLR2D	ENSG00000144231.11	transcript	ENST00000272645.9	protein_coding	1/3			chr2	TogoVar
POLR2E_chr19_1081574_1100375	1088724	G G	GGAAAGGG others(15): Show GGAAAGGGGGAGAGTGGTCACAC	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp1 HG01074.hp1 HG01516.hp2 others(1): Show HG00323.hp1 HG01074.hp1 HG01516.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0032 a0001c0001t0002 a0001c0001t0032	a0001c0001t0002g0018 a0001c0001t0032g0186 a0001c0001t0002g0018 a0001c0001t0032g0186	4	442	0.0091	22	c.15 others(34): Show c.15-26_*15-5dupGTGTGACCACTCTCCCCCTTTC	POLR2E	ENSG00000099817.12	transcript	ENST00000615234.5	protein_coding	7/7			chr19	TogoVar
POLR2F_chr22_37948699_37974312	37949131	G G	GACAGCAG others(15): Show GACAGCAGGTACCTATCCCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	404	0.0025	22	c.-46 others(33): Show c.-4657_-4656insACAGCAGGTACCTATCCCTCCT	POLR2F	ENSG00000100142.16	transcript	ENST00000442738.7	protein_coding		4567		chr22	TogoVar
POLR2I_chr19_36108709_36119875	36115496	C C	CGGCGGCT others(15): Show CGGCGGCTGCGGAGCGGGTGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	438	0.0023	22	c.-66 others(31): Show c.-662_-641dupTCACACCCGCTCCGCAGCCGCC	POLR2I	ENSG00000105258.9	transcript	ENST00000221859.9	protein_coding		622		chr19	TogoVar
POLR3A_chr10_77970149_78034515	77973487	T T	TTGAGAGG others(15): Show TTGAGAGGATCTGCTGAGCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0194 a0001c0001t0002g0194	1	374	0.0027	22	c.39 others(33): Show c.3990_*3991insGGTGGCTCAGCAGATCCTCTCA	POLR3A	ENSG00000148606.15	transcript	ENST00000372371.8	protein_coding		1661		chr10	TogoVar
POLR3A_chr10_77970149_78034515	77982038	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0324 a0001c0001t0002g0324	1	374	0.0027	22	c.375 others(38): Show c.3759+94_3759+115dupTTTTTTTTTTTTTTTTTTTTTT	POLR3A	ENSG00000148606.15	transcript	ENST00000372371.8	protein_coding	28/30			chr10	TogoVar
POLR3A_chr10_77970149_78034515	78030446	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 NA18965.hp2 HG02717.hp1 NA18965.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0010 a0001c0001 a0004c0010	a0001c0001t0001 a0004c0010t0020 a0001c0001t0001 a0004c0010t0020	a0001c0001t0001g0048 a0004c0010t0020g0304 a0001c0001t0001g0048 a0004c0010t0020g0304	2	374	0.0054	22	c.-10 others(33): Show c.-1040_-1039insTATATATATATATATATATATA	POLR3A	ENSG00000148606.15	transcript	ENST00000372371.8	protein_coding		932		chr10	TogoVar
POLR3C_chr1_145819200_145849402	145821457	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0002	1	368	0.0027	22	c.-29 others(33): Show c.-2933_-2932insTTTTTTTTTTTTTTTTTTTTTT	POLR3C	ENSG00000186141.10	transcript	ENST00000334163.4	protein_coding		2742		chr1	TogoVar
POLR3E_chr16_22292409_22340096	22303639	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02818.hp2 HG02922.hp1 others(1): Show HG01884.hp1 HG02818.hp2 HG02922.hp1 HG03486.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0001 a0001c0001t0001 a0005c0006t0001	a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0314 others(1): Show a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0314 a0005c0006t0001g0095	4	358	0.0112	22	c.36+ others(35): Show c.36+653_36+654insTTTTTTTTTTTTTTTTTTTTTT	POLR3E	ENSG00000058600.16	transcript	ENST00000299853.10	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
POLR3F_chr20_18462390_18489646	18486201	T T	TATATATA others(15): Show TATATATAAATATATATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	452	0.0022	22	c.26 others(33): Show c.2643_*2644insATATATAAATATATATATATAA	POLR3F	ENSG00000132664.13	transcript	ENST00000377603.5	protein_coding		1556		chr20	TogoVar
POLR3G_chr5_90469864_90519557	90514755	A A	AACACACA others(15): Show AACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01952.hp2 HG02809.hp2 others(11): Show HG00639.hp2 HG01952.hp2 HG02809.hp2 HG02896.hp2 HG02922.hp2 HG03453.hp1 NA18941.hp1 NA18942.hp2 NA18951.hp2 NA18952.hp1 NA18990.hp2 NA19003.hp2 NA19056.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0013 a0001c0001t0023	a0001c0001t0002g0012 a0001c0001t0002g0015 a0001c0001t0002g0047 others(11): Show a0001c0001t0002g0012 a0001c0001t0002g0015 a0001c0001t0002g0047 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0067 a0001c0001t0002g0077 a0001c0001t0002g0129 a0001c0001t0005g0107 a0001c0001t0005g0121 a0001c0001t0010g0021 a0001c0001t0013g0033 a0001c0001t0023g0034	14	366	0.0383	22	c.26 others(33): Show c.2616_*2617insACACACACACACACACACACAC	POLR3G	ENSG00000113356.13	transcript	ENST00000651687.1	protein_coding		199		chr5	TogoVar
POLR3H_chr22_41520799_41549470	41532332	G G	GCGGAGCA others(15): Show GCGGAGCAGCCCTGGGCAAAGCC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	384	0.0026	22	c.296 others(37): Show c.296-197_296-176dupGGCTTTGCCCAGGGCTGCTCCG	POLR3H	ENSG00000100413.17	transcript	ENST00000355209.9	protein_coding	3/5			chr22	TogoVar
POLR3K_chr16_41407_58608	44314	A A	AACACACA others(15): Show AACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG01106.hp1 others(1): Show HG00323.hp1 HG00642.hp1 HG01106.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0001 a0001c0001t0002g0005 a0001c0001t0003g0149 others(1): Show a0001c0001t0001g0001 a0001c0001t0002g0005 a0001c0001t0003g0149 a0001c0001t0006g0044	4	432	0.0093	22	c.31 others(33): Show c.3115_*3116insGTGTGTGTGTGTGTGTGTGTGT	POLR3K	ENSG00000161980.6	transcript	ENST00000293860.6	protein_coding		2092		chr16	TogoVar
POLRMT_chr19_612221_638537	612393	G G	GGTGGGTG others(15): Show GGTGGGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG04204.hp2 HG02809.hp1 HG04204.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0003 a0004c0004t0002 a0004c0004t0003	a0004c0004t0002g0187 a0004c0004t0003g0291 a0004c0004t0002g0187 a0004c0004t0003g0291	2	422	0.0047	22	c.48 others(33): Show c.4880_*4881insACACACACACACACACACCCAC	POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding		4827		chr19	TogoVar
POLRMT_chr19_612221_638537	612427	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGTGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp2 homoSapiens_chm13v2.hp1 NA19011.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0067 a0001c0001t0001g0001 a0001c0001t0001g0067	2	422	0.0047	22	c.48 others(33): Show c.4846_*4847insTCTCACACACACACACACACAC	POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding		4793		chr19	TogoVar
POLRMT_chr19_612221_638537	620966	G G	GGGGCGCG others(15): Show GGGGCGCGGGGGGCGCCGGGGGA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG03098.hp1 NA18949.hp2 HG02074.hp1 HG03098.hp1 NA18949.hp2	a0002 a0002	a0002c0003 a0002c0024 a0002c0003 a0002c0024	a0002c0003t0003 a0002c0024t0002 a0002c0003t0003 a0002c0024t0002	a0002c0003t0003g0285 a0002c0003t0003g0325 a0002c0024t0002g0238 a0002c0003t0003g0285 a0002c0003t0003g0325 a0002c0024t0002g0238	3	422	0.0071	22	c.264 others(37): Show c.2640+91_2640+92insTCCCCCGGCGCCCCCCGCGCCC	POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding	10/20			chr19	TogoVar
POLRMT_chr19_612221_638537	620972	C C	CGGGGGCG others(15): Show CGGGGGCGCCGGGGGAGGGCGCG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02055.hp2 NA18982.hp2 others(1): Show HG01099.hp1 HG02055.hp2 NA18982.hp2 NA19057.hp1	a0002 a0005 a0002 a0005	a0002c0003 a0002c0007 a0002c0053 others(1): Show a0002c0003 a0002c0007 a0002c0053 a0005c0009	a0002c0003t0003 a0002c0007t0002 a0002c0053t0003 others(1): Show a0002c0003t0003 a0002c0007t0002 a0002c0053t0003 a0005c0009t0001	a0002c0003t0003g0310 a0002c0007t0002g0219 a0002c0053t0003g0322 others(1): Show a0002c0003t0003g0310 a0002c0007t0002g0219 a0002c0053t0003g0322 a0005c0009t0001g0032	4	422	0.0095	22	c.264 others(37): Show c.2640+64_2640+85dupCGCGCCCTCCCCCGGCGCCCCC	POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding	10/20			chr19	TogoVar
POLRMT_chr19_612221_638537	620981	C C	CGGGGGAG others(15): Show CGGGGGAGGGCGCGGGGGCGCCG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03669.hp1 HG04115.hp1 HG02602.hp1 HG03669.hp1 HG04115.hp1	a0002 a0026 a0002 a0026	a0002c0003 a0026c0071 a0002c0003 a0026c0071	a0002c0003t0002 a0002c0003t0003 a0026c0071t0003 a0002c0003t0002 a0002c0003t0003 a0026c0071t0003	a0002c0003t0002g0185 a0002c0003t0003g0311 a0026c0071t0003g0304 a0002c0003t0002g0185 a0002c0003t0003g0311 a0026c0071t0003g0304	3	422	0.0071	22	c.264 others(37): Show c.2640+55_2640+76dupCGGCGCCCCCGCGCCCTCCCCC	POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding	10/20			chr19	TogoVar
POLRMT_chr19_612221_638537	620993	C C	CGGGGGCG others(15): Show CGGGGGCGCCGGGGGAGGGCGCG	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0221 a0002c0007t0002g0221	1	422	0.0024	22	c.264 others(37): Show c.2640+43_2640+64dupCGCGCCCTCCCCCGGCGCCCCC	POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding	10/20			chr19	TogoVar
POLRMT_chr19_612221_638537	621014	C C	CGGGGGCG others(15): Show CGGGGGCGCCGGGGGAGGGCGCG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0228 a0002c0007t0002g0228	1	422	0.0024	22	c.264 others(37): Show c.2640+43_2640+44insCGCGCCCTCCCCCGGCGCCCCC	POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding	10/20			chr19	TogoVar

Search by Variant

Search

Search Results