Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PNKD_chr2_218265519_218351793	218315057	T T	TCTTTCTT others(29): Show TCTTTCTTTCTTTCTTTCTTTCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0233 a0001c0001t0004g0233	1	280	0.0036	36	c.237 others(55): Show c.237-24723_237-24722insTCTTTCTTTCTTTCTTTCTTCCTTCC TTCCTTCCTT		PNKD	ENSG00000127838.15	transcript	ENST00000273077.9	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
PNKD_chr2_218265519_218351793	218315057	T T	TCTTTCTT others(29): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01099.hp1 HG02004.hp2 others(8): Show HG00735.hp2 HG01099.hp1 HG02004.hp2 HG03654.hp2 HG03942.hp1 NA18948.hp2 NA18961.hp1 NA18962.hp2 NA18968.hp2 NA18979.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0002g0173 others(8): Show a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0216 a0001c0001t0005g0257 a0001c0001t0005g0259 a0001c0001t0006g0161	11	280	0.0393	36	c.237 others(55): Show c.237-24723_237-24722insTCTTTCTTTCTTTCTTTCTTTCTTCC TTCCTTCCTT		PNKD	ENSG00000127838.15	transcript	ENST00000273077.9	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
PNKD_chr2_218265519_218351793	218315120	C C	CCTTTCTT others(29): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0278 a0001c0001t0003g0278	1	280	0.0036	36	c.237 others(55): Show c.237-24636_237-24635insTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTT		PNKD	ENSG00000127838.15	transcript	ENST00000273077.9	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
PNLDC1_chr6_159795276_159825704	159824417	G G	GAGATACT others(29): Show GAGATACTTTCTAAGGGGAAAAAAAGGCTGTTACTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0216 a0001c0002t0001g0216	1	400	0.0025	36	c.39 others(47): Show c.3900_*3901insAGATACTTTCTAAGGGGAAAAAAAGGCTGTTACT TT		PNLDC1	ENSG00000146453.13	transcript	ENST00000392167.4	protein_coding					3714		chr6	TogoVar
PNMA6E_chrX_153390639_153406350	153398281	C C	CCCTCACC others(29): Show CCCTCACCTGCTGCTCCTGCCTCACCTGCGCCTCCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp1 HG01192.hp1 HG01261.hp1 others(10): Show HG00099.hp1 HG01192.hp1 HG01261.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02148.hp1 HG02273.hp1 HG02683.hp1 HG04115.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0003 a0003c0003t0001 a0003c0003t0003	a0003c0003t0001g0029 a0003c0003t0001g0031 a0003c0003t0001g0048 others(2): Show a0003c0003t0001g0029 a0003c0003t0001g0031 a0003c0003t0001g0048 a0003c0003t0001g0052 a0003c0003t0003g0006	13	346	0.0376	36	c.533 others(43): Show c.533_568dupCAGGAGGCGCAGGTGAGGCAGGAGCAGCAGGTGAGG	p.Ala others(13): Show p.Ala178_Glu189dup	PNMA6E	ENSG00000214897.5	transcript	ENST00000445091.3	protein_coding	2/2	746/3389	568/1944	190/647			chrX	TogoVar
PNMA8A_chr19_46461503_46476563	46473260	G G	GTTTTTTG others(29): Show GTTTTTTGTTTTTTTTTTTTTTTTTTTGTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0002 a0001c0002t0003g0002	1	454	0.0022	36	c.-20 others(47): Show c.-2004_-2003insAAAAAAAAACAAAAAAAAAAAAAAAAAAACAAAA AA		PNMA8A	ENSG00000182013.18	transcript	ENST00000313683.15	protein_coding					1698		chr19	TogoVar
PNMA8A_chr19_46461503_46476563	46473260	G G	GTTTTTTG others(29): Show GTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00673.hp1 HG02135.hp1 others(5): Show HG00438.hp1 HG00673.hp1 HG02135.hp1 HG02155.hp1 NA18939.hp2 NA18994.hp2 NA19057.hp2 NA19079.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0033 a0001c0002t0003 a0001c0002t0033	a0001c0002t0003g0002 a0001c0002t0033g0041 a0001c0002t0003g0002 a0001c0002t0033g0041	8	454	0.0176	36	c.-20 others(47): Show c.-2004_-2003insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAA AA		PNMA8A	ENSG00000182013.18	transcript	ENST00000313683.15	protein_coding					1698		chr19	TogoVar
PNPLA1_chr6_36265060_36318955	36282044	G G	GGAAACAG others(29): Show GGAAACAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0377 a0002c0002t0001g0377	1	386	0.0026	36	c.206 others(53): Show c.206-9272_206-9271insCAGAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAA		PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA1_chr6_36265060_36318955	36282044	G G	GGAAAGAA others(29): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0022 a0022	a0022c0037 a0022c0037	a0022c0037t0006 a0022c0037t0006	a0022c0037t0006g0365 a0022c0037t0006g0365	1	386	0.0026	36	c.206 others(53): Show c.206-9264_206-9229dupAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAA		PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA1_chr6_36265060_36318955	36282088	A A	AGAAAGAA others(29): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAG	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA18906.hp2 HG03471.hp2 NA18906.hp2	a0001 a0012 a0001 a0012	a0001c0003 a0012c0018 a0001c0003 a0012c0018	a0001c0003t0001 a0012c0018t0005 a0001c0003t0001 a0012c0018t0005	a0001c0003t0001g0237 a0012c0018t0005g0258 a0001c0003t0001g0237 a0012c0018t0005g0258	2	386	0.0052	36	c.206 others(53): Show c.206-9229_206-9228insAGAAAGAAAGAAAGAAAGAAAGAAAGAA GGAAGGAA		PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA1_chr6_36265060_36318955	36300178	T T	TGTGTGTG others(29): Show TGTGTGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02148.hp2 NA18980.hp2 NA19088.hp1 HG02148.hp2 NA18980.hp2 NA19088.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0206 a0005c0005t0002g0224 a0005c0005t0002g0227 a0005c0005t0002g0206 a0005c0005t0002g0224 a0005c0005t0002g0227	3	386	0.0078	36	c.776 others(53): Show c.776-1682_776-1681insTGTGTGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAG		PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr6	TogoVar
POC1B_chr12_89414718_89531047	89476759	T T	TAGATAGA others(29): Show TAGATAGATAGATAGATAGATAGATAGACAGACAGAC	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	370	0.0027	36	c.453 others(53): Show c.453-4485_453-4484insGTCTGTCTGTCTATCTATCTATCTATCT ATCTATCT		POC1B	ENSG00000139323.14	transcript	ENST00000313546.8	protein_coding	4/11						chr12	TogoVar
PODXL_chr7_131495271_131561628	131499780	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0006 a0009c0014t0006	a0009c0014t0006g0035 a0009c0014t0006g0035	1	440	0.0023	36	c.45 others(47): Show c.4530_*4531insATATATATATATATATATATATATATATATATAT AT		PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding					490		chr7	TogoVar
PODXL_chr7_131495271_131561628	131558478	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0027 a0027	a0027c0040 a0027c0040	a0027c0040t0007 a0027c0040t0007	a0027c0040t0007g0025 a0027c0040t0007g0025	1	440	0.0023	36	c.-21 others(47): Show c.-2120_-2119insAATATATATATATATATATATATATATATATATA TA		PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding					1851		chr7	TogoVar
POLA1_chrX_24688918_25001986	24921892	T T	TTGTGTGT others(29): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG02280.hp1 others(2): Show HG01884.hp1 HG02055.hp1 HG02280.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0017 others(2): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021	5	197	0.0254	36	c.416 others(55): Show c.4165-8545_4165-8544insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTG		POLA1	ENSG00000101868.13	transcript	ENST00000379068.8	protein_coding	35/36					INFO_REALIGN_3_PRIME	chrX	TogoVar
POLDIP2_chr17_28341633_28362527	28353520	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02809.hp1 NA18972.hp1 HG02630.hp1 HG02809.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0039 a0001c0002t0001g0127 a0001c0001t0001g0039 a0001c0002t0001g0127	3	340	0.0088	36	c.438 others(51): Show c.438+174_438+175insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT		POLDIP2	ENSG00000004142.12	transcript	ENST00000540200.6	protein_coding	4/10						chr17	TogoVar
POLE4_chr2_74953643_74975128	74963976	T T	TAGGGAAT others(29): Show TAGGGAATACAGTATTCATTGTATATTAGCATATACA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01346.hp2 HG00323.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	2	476	0.0042	36	c.340 others(53): Show c.340+3830_340+3831insAGGGAATACAGTATTCATTGTATATTAG CATATACA		POLE4	ENSG00000115350.12	transcript	ENST00000483063.2	protein_coding	3/3						chr2	TogoVar
POLG_chr15_89311320_89339824	89325061	T T	TGAGAGAG others(29): Show TGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGTGAGA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	398	0.0025	36	c.194 others(53): Show c.1949+388_1949+389insTCTCACTCACTCACTCACTCACTCACTC ACTCTCTC		POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22						chr15	TogoVar
POLG_chr15_89311320_89339824	89325271	T T	TGAGTGAG others(29): Show TGAGTGAGAGAAAGAGAGTGAGTGAGTGAGTGAGTGA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0234 a0001c0001t0002g0234	1	398	0.0025	36	c.194 others(53): Show c.1949+178_1949+179insTCACTCACTCACTCACTCACTCTCTTTC TCTCACTC		POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22						chr15	TogoVar
POLK_chr5_75506891_75614991	75612322	C C	CCCCCCGC others(29): Show CCCCCCGCCCTCCGCCCCGCCCCCGCCCTCCGCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG03704.hp1 HG04199.hp1 others(1): Show HG02738.hp1 HG03704.hp1 HG04199.hp1 NA18985.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0027 a0001c0002t0116 a0001c0002t0004 a0001c0002t0027 a0001c0002t0116	a0001c0002t0004g0327 a0001c0002t0004g0335 a0001c0002t0027g0323 others(1): Show a0001c0002t0004g0327 a0001c0002t0004g0335 a0001c0002t0027g0323 a0001c0002t0116g0312	4	356	0.0112	36	c.14 others(49): Show c.14304_*14305insCCCCCGCCCTCCGCCCCGCCCCCGCCCTCCGC CCCG		POLK	ENSG00000122008.16	transcript	ENST00000241436.9	protein_coding					2332		chr5	TogoVar
POLR1A_chr2_86015216_86110886	86041149	C C	CTGTGTGT others(29): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0016 a0016	a0016c0032 a0016c0032	a0016c0032t0032 a0016c0032t0032	a0016c0032t0032g0115 a0016c0032t0032g0115	1	340	0.0029	36	c.357 others(53): Show c.3573-626_3573-591dupCACACACACACACACACACACACACACA CACACACA		POLR1A	ENSG00000068654.17	transcript	ENST00000263857.11	protein_coding	24/33						chr2	TogoVar
POLR1C_chr6_43512089_43526513	43524259	G G	GGAGAATC others(29): Show GGAGAATCGTTTGAACCTGGGAGGCGGAGGTTGTGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	380	0.0026	36	c.29 others(47): Show c.2959_*2960insGAGAATCGTTTGAACCTGGGAGGCGGAGGTTGTG GT		POLR1C	ENSG00000171453.20	transcript	ENST00000642195.1	protein_coding					2747		chr6	TogoVar
POLR3E_chr16_22292409_22340096	22303639	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	358	0.0028	36	c.36+ others(49): Show c.36+653_36+654insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT		POLR3E	ENSG00000058600.16	transcript	ENST00000299853.10	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
POLR3G_chr5_90469864_90519557	90514755	A A	AACACACA others(29): Show AACACACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02155.hp2 HG02083.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0022 a0001c0001t0010 a0001c0001t0022	a0001c0001t0010g0241 a0001c0001t0022g0056 a0001c0001t0010g0241 a0001c0001t0022g0056	2	366	0.0055	36	c.26 others(47): Show c.2616_*2617insACACACACACACACACACACACACACACACACAC AC		POLR3G	ENSG00000113356.13	transcript	ENST00000651687.1	protein_coding					199		chr5	TogoVar
POLRMT_chr19_612221_638537	613720	G G	GATGGGGC others(29): Show GATGGGGCCGGCACCGGCACCGGCACCGGCACCGGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG01106.hp1 others(9): Show HG00099.hp2 HG00639.hp1 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01255.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG02717.hp2 NA20752.hp2	a0001 a0002 a0016 a0001 a0002 a0016	a0001c0001 a0001c0028 a0002c0003 others(3): Show a0001c0001 a0001c0028 a0002c0003 a0002c0006 a0002c0044 a0016c0060	a0001c0001t0001 a0001c0001t0011 a0001c0028t0001 others(4): Show a0001c0001t0001 a0001c0001t0011 a0001c0028t0001 a0002c0003t0002 a0002c0006t0002 a0002c0044t0002 a0016c0060t0001	a0001c0001t0001g0042 a0001c0001t0011g0349 a0001c0028t0001g0037 others(9): Show a0001c0001t0001g0042 a0001c0001t0011g0349 a0001c0028t0001g0037 a0001c0028t0001g0075 a0002c0003t0002g0243 a0002c0003t0002g0244 a0002c0006t0002g0241 a0002c0006t0002g0248 a0002c0006t0002g0250 a0002c0006t0002g0251 a0002c0044t0002g0252 a0016c0060t0001g0033	12	422	0.0284	36	c.35 others(47): Show c.3553_*3554insTGCCGGTGCCGGTGCCGGTGCCGGTGCCGGCCCC AT		POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding					3500		chr19	TogoVar
POMT1_chr9_131497918_131528799	131515784	G G	GTAACACA others(29): Show GTAACACAGGACACTTCCTCACACGGAGCACTTCCTC	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA19010.hp2 HG02155.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0155 a0001c0001t0001g0159	2	334	0.0060	36	c.127 others(53): Show c.1272+299_1272+334dupTAACACAGGACACTTCCTCACACGGAGC ACTTCCTC		POMT1	ENSG00000130714.19	transcript	ENST00000402686.8	protein_coding	13/19					INFO_REALIGN_3_PRIME	chr9	TogoVar
POP5_chr12_120573764_120586402	120581109	T T	TGGGGGAA others(29): Show TGGGGGAAGAGGGGAACCCCGGGAGGATGGCGGGATG	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18940.hp2 NA18940.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0019 a0003c0004t0001g0019	1	392	0.0026	36	c.163 others(47): Show c.163+5_163+6insCATCCCGCCATCCTCCCGGGGTTCCCCTCTTCCC CC		POP5	ENSG00000167272.11	transcript	ENST00000357500.5	protein_coding	2/4						chr12	TogoVar
POR_chr7_75910155_75991855	75989100	G G	GGAGGGGT others(29): Show GGAGGGGTGGAGGTTGAGGGGGGGAGGGGTGGAGGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG02615.hp1 HG02717.hp2 others(2): Show HG01074.hp1 HG02615.hp1 HG02717.hp2 HG02886.hp2 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0023 a0001c0002t0001g0044 others(2): Show a0001c0002t0001g0017 a0001c0002t0001g0023 a0001c0002t0001g0044 a0001c0002t0001g0046 a0001c0002t0001g0057	5	278	0.0180	36	c.26 others(47): Show c.2619_*2620insGAGGGGTGGAGGTTGAGGGGGGGAGGGGTGGAGG TT		POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding					2246		chr7	TogoVar
POT1_chr7_124817386_124934825	124817689	A A	ATTTTTTT others(29): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0322 a0001c0001t0001g0322	1	346	0.0029	36	c.62 others(47): Show c.6272_*6273insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA		POT1	ENSG00000128513.16	transcript	ENST00000357628.8	protein_coding					4696		chr7	TogoVar
POU2AF3_chr11_111293546_111313735	111309169	T T	TCTCAAAA others(29): Show TCTCAAAAAAAAAAAAAAAAAAAAAACAGGTCCCGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	468	0.0021	36	c.73 others(45): Show c.732_*733insCTCAAAAAAAAAAAAAAAAAAAAAACAGGTCCCGGG		POU2AF3	ENSG00000214290.9	transcript	ENST00000610738.6	protein_coding					435		chr11	TogoVar
POU6F2_chr7_38972909_39473601	39397814	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0061 a0001c0005t0001g0061	1	170	0.0059	36	c.973 others(53): Show c.973-8766_973-8765insTATATATATATATATATATATATATATA TATATATA		POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr7	TogoVar
PPA2_chr4_105364077_105479062	105460856	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	366	0.0027	36	c.158 others(53): Show c.158-4112_158-4111insATATATATATATATATATATATATATAT ATATATAT		PPA2	ENSG00000138777.20	transcript	ENST00000341695.10	protein_coding	1/11						chr4	TogoVar
PPARD_chr6_35337558_35433178	35415778	C C	CTGTGTGT others(29): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA18906.hp2 HG02572.hp1 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0003 a0001c0002t0004	a0001c0002t0003g0015 a0001c0002t0004g0044 a0001c0002t0003g0015 a0001c0002t0004g0044	2	238	0.0084	36	c.131 others(53): Show c.131-4324_131-4323insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT		PPARD	ENSG00000112033.14	transcript	ENST00000360694.8	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
PPEF2_chr4_75854867_75907452	75877006	A A	AAAAGAAA others(29): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01123.hp2 others(13): Show HG01069.hp1 HG01071.hp1 HG01123.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG02071.hp1 HG02071.hp2 HG02273.hp1 HG03490.hp2 HG03492.hp1 NA19009.hp1 NA19068.hp2 NA19082.hp1 NA19082.hp2 NA19240.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0001c0002 a0011c0023 a0001c0001 a0001c0002 a0011c0023	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0011c0023t0002	a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0130 others(13): Show a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0130 a0001c0001t0001g0147 a0001c0001t0001g0164 a0001c0001t0001g0176 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0002g0013 a0001c0001t0002g0203 a0001c0002t0001g0218 a0011c0023t0002g0232	16	270	0.0593	36	c.934 others(51): Show c.934-334_934-333insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT		PPEF2	ENSG00000156194.19	transcript	ENST00000286719.12	protein_coding	10/16						chr4	TogoVar
PPFIA1_chr11_70265690_70389396	70277060	A A	ATATTATA others(29): Show ATATTATAATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01255.hp1 HG01943.hp1 others(9): Show HG00735.hp1 HG01255.hp1 HG01943.hp1 HG02451.hp2 HG03139.hp2 HG03195.hp1 HG04184.hp2 NA18979.hp2 NA18990.hp1 NA18997.hp1 NA19066.hp2 NA20805.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0007 a0001c0003t0003g0009 a0001c0003t0003g0010 others(9): Show a0001c0003t0003g0007 a0001c0003t0003g0009 a0001c0003t0003g0010 a0001c0003t0003g0011 a0001c0003t0003g0012 a0001c0003t0003g0013 a0001c0003t0003g0014 a0001c0003t0003g0015 a0001c0003t0003g0016 a0001c0003t0003g0040 a0001c0003t0003g0041 a0001c0003t0003g0042	12	282	0.0426	36	c.264 others(53): Show c.264+4625_264+4626insATTATAATATATATATATATATATATAT ATATTTTT		PPFIA1	ENSG00000131626.19	transcript	ENST00000253925.12	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr11	TogoVar
PPFIA1_chr11_70265690_70389396	70277060	A A	ATATTATA others(29): Show ATATTATAATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01175.hp2 HG01256.hp1 others(7): Show HG01106.hp1 HG01175.hp2 HG01256.hp1 HG01891.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02148.hp1 HG02273.hp1 HG02300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0019 a0001c0003t0003g0020 a0001c0003t0003g0021 others(7): Show a0001c0003t0003g0019 a0001c0003t0003g0020 a0001c0003t0003g0021 a0001c0003t0003g0022 a0001c0003t0003g0023 a0001c0003t0003g0024 a0001c0003t0003g0025 a0001c0003t0003g0026 a0001c0003t0003g0027 a0001c0003t0003g0028	10	282	0.0355	36	c.264 others(53): Show c.264+4625_264+4626insATTATAATATATATATATATATATATAT ATTTTTTT		PPFIA1	ENSG00000131626.19	transcript	ENST00000253925.12	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr11	TogoVar
PPFIA2_chr12_81252975_81764350	81642734	T T	TATAATAT others(29): Show TATAATATATACATACATGTATGTATATATTATATAC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0128 a0001c0001t0004g0128	1	168	0.0060	36	c.303 others(55): Show c.303+34056_303+34057insGTATATAATATATACATACATGTATG TATATATTAT		PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	4/32						chr12	TogoVar
PPFIA2_chr12_81252975_81764350	81642769	T T	TTATATAC others(29): Show TTATATACATACATGTATGTATATATTATATACATAC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01069.hp2 HG02074.hp1 others(16): Show HG00558.hp1 HG01069.hp2 HG02074.hp1 HG02080.hp1 HG02155.hp1 HG02451.hp2 HG03239.hp1 HG03942.hp1 HG04199.hp1 NA18939.hp2 NA18955.hp1 NA18977.hp1 NA18986.hp1 NA18987.hp2 NA18994.hp1 NA19060.hp2 NA19080.hp2 NA19081.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0087 others(16): Show a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0087 a0001c0001t0001g0116 a0001c0001t0001g0141 a0001c0001t0002g0038 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0066 a0001c0001t0002g0090 a0001c0001t0002g0102 a0001c0001t0002g0166 a0001c0001t0003g0008 a0001c0001t0006g0012 a0001c0001t0009g0076 a0001c0002t0001g0039 a0001c0002t0001g0097 a0001c0002t0002g0051 a0001c0002t0003g0018	19	168	0.1131	36	c.303 others(55): Show c.303+34021_303+34022insGTATGTATATAATATATACATACATG TATGTATATA		PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	4/32						chr12	TogoVar
PPIG_chr2_169579351_169646406	169606591	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0339 a0001c0001t0005g0339	1	382	0.0026	36	c.244 others(51): Show c.244+462_244+463insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA		PPIG	ENSG00000138398.17	transcript	ENST00000260970.8	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr2	TogoVar
PPIL1_chr6_36849829_36879803	36859811	T T	TTGTGTGT others(29): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	410	0.0024	36	c.212 others(53): Show c.212-3158_212-3157insCACACACACACACACACACACACACACA CACACACA		PPIL1	ENSG00000137168.8	transcript	ENST00000373699.6	protein_coding	2/3						chr6	TogoVar
PPIL1_chr6_36849829_36879803	36859811	T T	TTTTGTGT others(29): Show TTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	410	0.0024	36	c.212 others(53): Show c.212-3158_212-3157insCACACACACACACACACACACACACACA CACACAAA		PPIL1	ENSG00000137168.8	transcript	ENST00000373699.6	protein_coding	2/3						chr6	TogoVar
PPIL2_chr22_21661012_21702907	21664958	A A	AAAATACA others(29): Show AAAATACAAAAAATTAGCCTACTAAACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp2 HG02647.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0234 a0001c0001t0003g0249 a0001c0001t0003g0234 a0001c0001t0003g0249	2	378	0.0053	36	c.-11 others(47): Show c.-1142_-1141insAAATACAAAAAATTAGCCTACTAAACACACACAC AC		PPIL2	ENSG00000100023.20	transcript	ENST00000398831.8	protein_coding					1053		chr22	TogoVar
PPL_chr16_4877507_4942148	4920345	G G	GAGAGAGA others(29): Show GAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0013 a0013	a0013c0019 a0013c0019	a0013c0019t0006 a0013c0019t0006	a0013c0019t0006g0347 a0013c0019t0006g0347	1	372	0.0027	36	c.63- others(51): Show c.63-9397_63-9396insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTCTCT		PPL	ENSG00000118898.16	transcript	ENST00000345988.7	protein_coding	1/21						chr16	TogoVar
PPL_chr16_4877507_4942148	4920345	G G	GAGAGAGA others(29): Show GAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0113 a0003c0003t0002g0113	1	372	0.0027	36	c.63- others(51): Show c.63-9397_63-9396insTTCTTTCTTTCTTTCTTTCTTTCTTTCTCT CTCTCT		PPL	ENSG00000118898.16	transcript	ENST00000345988.7	protein_coding	1/21						chr16	TogoVar
PPM1H_chr12_62638994_62940150	62673715	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0174 a0001c0001t0005g0174	1	252	0.0040	36	c.124 others(55): Show c.1246-6387_1246-6386insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA		PPM1H	ENSG00000111110.12	transcript	ENST00000228705.7	protein_coding	8/9						chr12	TogoVar
PPM1J_chr1_112704998_112720332	112706474	A A	ACACACAC others(29): Show ACACACACACCACACACACACACACACACCCCCACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	422	0.0024	36	c.36 others(47): Show c.3688_*3689insGTGTGGGGGTGTGTGTGTGTGTGTGTGGTGTGTG TG		PPM1J	ENSG00000155367.16	transcript	ENST00000309276.11	protein_coding					3523		chr1	TogoVar
PPM1J_chr1_112704998_112720332	112706478	A A	ACACACAC others(29): Show ACACACACACCACACACACACACACACACCCCCACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	422	0.0024	36	c.36 others(47): Show c.3684_*3685insGTGTGGGGGTGTGTGTGTGTGTGTGTGGTGTGTG TG		PPM1J	ENSG00000155367.16	transcript	ENST00000309276.11	protein_coding					3519		chr1	TogoVar
PPM1L_chr3_160751231_161083902	160944802	C C	CATATATT others(29): Show CATATATTATATATGTTATATATAACATATATATGTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0022 a0001c0001t0033g0022	1	206	0.0049	36	c.400 others(55): Show c.400-16928_400-16927insTATATATGTTATATATAACATATATA TGTTATATAT		PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr3	TogoVar
PPP1CB_chr2_28746830_28807940	28785065	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 NA19088.hp2 homoSapiens_chm13v2.hp1 HG01361.hp1 NA19088.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0036 a0001c0002t0002g0055 a0001c0002t0002g0164 a0001c0002t0002g0036 a0001c0002t0002g0055 a0001c0002t0002g0164	3	366	0.0082	36	c.592 others(53): Show c.592+1115_592+1116insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT		PPP1CB	ENSG00000213639.11	transcript	ENST00000395366.3	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
PPP1R12C_chr19_55085918_55122637	55093531	T T	TCCAGCCC others(29): Show TCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCC	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0128 a0001c0002t0001g0128	1	390	0.0026	36	c.168 others(53): Show c.1684-334_1684-299dupGGCCTGGGCTCCTGGGTCTGAGGGAGGA GGGGCTGG		PPP1R12C	ENSG00000125503.13	transcript	ENST00000263433.8	protein_coding	13/21						chr19	TogoVar

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Search Results (Total: 8848 hits)