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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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
POLDIP2_chr17_28341633_28362527	28353520	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0152	1	340	0.0029	23	c.438 others(38): Show c.438+174_438+175insTTTTTTTTTTTTTTTTTTTTTTT	POLDIP2	ENSG00000004142.12	transcript	ENST00000540200.6	protein_coding	4/10			chr17	TogoVar
POLQ_chr3_121426431_121550988	121522284	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0175 a0003c0002t0001g0175	1	318	0.0031	23	c.110 others(40): Show c.1109-158_1109-136dupAAAAAAAAAAAAAAAAAAAAAAA	POLQ	ENSG00000051341.15	transcript	ENST00000264233.6	protein_coding	7/29			chr3	TogoVar
POLR2D_chr2_127838553_127863155	127856290	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19084.hp1 NA19067.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0237 a0001c0001t0004g0236 a0001c0001t0001g0237 a0001c0001t0004g0236	2	358	0.0056	23	c.73+ others(38): Show c.73+1737_73+1738insTTTTTTTTTTTTTTTTTTTTTTT	POLR2D	ENSG00000144231.11	transcript	ENST00000272645.9	protein_coding	1/3			chr2	TogoVar
POLR3C_chr1_145819200_145849402	145842809	A A	AGATAGAT others(16): Show AGATAGATAGATAGATAGATAGAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp1 HG02809.hp1 HG01884.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0035 a0001c0001t0029 a0001c0001t0035	a0001c0001t0029g0008 a0001c0001t0035g0049 a0001c0001t0029g0008 a0001c0001t0035g0049	2	368	0.0054	23	c.39 others(32): Show c.397_*398insGATAGATAGATAGATGATAGATA	POLR3C	ENSG00000186141.10	transcript	ENST00000334163.4	protein_coding	15/15	398	INFO_REALIGN_3_PRIME	chr1	TogoVar
POLR3E_chr16_22292409_22340096	22303639	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02145.hp2 NA18522.hp1 others(1): Show HG01934.hp2 HG02145.hp2 NA18522.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0315 others(1): Show a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0315 a0001c0001t0007g0309	4	358	0.0112	23	c.36+ others(36): Show c.36+653_36+654insTTTTTTTTTTTTTTTTTTTTTTT	POLR3E	ENSG00000058600.16	transcript	ENST00000299853.10	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
POLR3G_chr5_90469864_90519557	90478569	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0045 a0001c0001t0013g0045	1	366	0.0027	23	c.-44 others(40): Show c.-44+3566_-44+3567insTTTTTTTTTTTTTTTTTTTTTTT	POLR3G	ENSG00000113356.13	transcript	ENST00000651687.1	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
POLRMT_chr19_612221_638537	620986	G G	GGAGGGCG others(16): Show GGAGGGCGCGGGGGCGCCGGGGGA	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0166 a0002c0003t0004g0166	1	422	0.0024	23	c.264 others(38): Show c.2640+71_2640+72insTCCCCCGGCGCCCCCGCGCCCTC	POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding	10/20			chr19	TogoVar
POLRMT_chr19_612221_638537	633529	G G	GGCGCCGC others(16): Show GGCGCCGCCGCCGCCGCCGCCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00544.hp1 HG00609.hp1 HG01168.hp2 others(65): Show HG00544.hp1 HG00609.hp1 HG01168.hp2 HG01169.hp2 HG01358.hp1 HG01928.hp2 HG01934.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02074.hp1 HG02080.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02258.hp1 HG02451.hp1 HG02486.hp2 HG02602.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02809.hp2 HG02895.hp2 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03209.hp1 HG03239.hp2 HG03471.hp2 HG03516.hp1 HG03579.hp1 HG03688.hp2 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18945.hp1 NA18946.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18963.hp2 NA18965.hp2 NA18973.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19007.hp2 NA19009.hp2 NA19043.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19059.hp2 NA19062.hp1 NA19074.hp1 NA19074.hp2 NA19080.hp2 NA19082.hp1 NA19090.hp1	a0002 a0004 a0006 others(9): Show a0002 a0004 a0006 a0008 a0013 a0019 a0022 a0023 a0030 a0031 a0032 a0034	a0002c0003 a0002c0006 a0002c0051 others(12): Show a0002c0003 a0002c0006 a0002c0051 a0004c0004 a0004c0012 a0006c0008 a0008c0011 a0013c0047 a0019c0035 a0022c0042 a0023c0066 a0030c0049 a0031c0053 a0032c0056 a0034c0043	a0002c0003t0003 a0002c0006t0003 a0002c0051t0003 others(12): Show a0002c0003t0003 a0002c0006t0003 a0002c0051t0003 a0004c0004t0003 a0004c0012t0003 a0006c0008t0003 a0008c0011t0003 a0013c0047t0003 a0019c0035t0003 a0022c0042t0003 a0023c0066t0003 a0030c0049t0003 a0031c0053t0003 a0032c0056t0003 a0034c0043t0003	a0002c0003t0003g0013 a0002c0003t0003g0028 a0002c0003t0003g0280 others(62): Show a0002c0003t0003g0013 a0002c0003t0003g0028 a0002c0003t0003g0280 a0002c0003t0003g0284 a0002c0003t0003g0286 a0002c0003t0003g0287 a0002c0003t0003g0288 a0002c0003t0003g0289 a0002c0003t0003g0298 a0002c0003t0003g0300 a0002c0003t0003g0301 a0002c0003t0003g0302 a0002c0003t0003g0305 a0002c0003t0003g0306 a0002c0003t0003g0307 a0002c0003t0003g0308 a0002c0003t0003g0309 a0002c0003t0003g0310 a0002c0003t0003g0311 a0002c0003t0003g0312 a0002c0003t0003g0313 a0002c0003t0003g0314 a0002c0003t0003g0315 a0002c0003t0003g0316 a0002c0003t0003g0317 a0002c0003t0003g0318 a0002c0003t0003g0322 a0002c0003t0003g0323 a0002c0003t0003g0324 a0002c0003t0003g0325 a0002c0003t0003g0327 a0002c0003t0003g0328 a0002c0003t0003g0329 a0002c0003t0003g0330 a0002c0003t0003g0331 a0002c0006t0003g0295 a0002c0006t0003g0296 a0002c0051t0003g0321 a0004c0004t0003g0276 a0004c0004t0003g0277 a0004c0004t0003g0278 a0004c0004t0003g0282 a0004c0004t0003g0283 a0004c0004t0003g0290 a0004c0004t0003g0291 a0004c0004t0003g0292 a0004c0004t0003g0297 a0004c0012t0003g0293 a0004c0012t0003g0294 a0006c0008t0003g0304 a0006c0008t0003g0332 a0006c0008t0003g0333 a0006c0008t0003g0334 a0006c0008t0003g0335 a0006c0008t0003g0336 a0006c0008t0003g0337 a0008c0011t0003g0279 a0013c0047t0003g0326 a0019c0035t0003g0275 a0022c0042t0003g0320 a0023c0066t0003g0303 a0030c0049t0003g0281 a0031c0053t0003g0319 a0032c0056t0003g0285 a0034c0043t0003g0299	68	422	0.1611	23	c.-18 others(30): Show c.-18_-17insGGCGGCGGCGGCGGCGGCGGCGC	POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding	1/21	18		chr19	TogoVar
POLRMT_chr19_612221_638537	633529	G G	GGCGCCGC others(16): Show GGCGCCGCCGCTGCCGCCGCCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18612.hp2 NA18939.hp1 NA18940.hp2 others(13): Show NA18612.hp2 NA18939.hp1 NA18940.hp2 NA18945.hp2 NA18952.hp1 NA18955.hp2 NA18960.hp2 NA18986.hp1 NA18999.hp2 NA19009.hp1 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19081.hp1 NA19084.hp2 NA19086.hp1	a0001 a0001	a0001c0005 a0001c0063 a0001c0005 a0001c0063	a0001c0005t0005 a0001c0063t0005 a0001c0005t0005 a0001c0063t0005	a0001c0005t0005g0003 a0001c0005t0005g0115 a0001c0005t0005g0116 others(8): Show a0001c0005t0005g0003 a0001c0005t0005g0115 a0001c0005t0005g0116 a0001c0005t0005g0117 a0001c0005t0005g0118 a0001c0005t0005g0119 a0001c0005t0005g0120 a0001c0005t0005g0121 a0001c0005t0005g0122 a0001c0005t0005g0123 a0001c0063t0005g0124	16	422	0.0379	23	c.-18 others(30): Show c.-18_-17insGGCGGCGGCGGCAGCGGCGGCGC	POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding	1/21	18		chr19	TogoVar
POLRMT_chr19_612221_638537	633530	G G	GCGCCGCC others(16): Show GCGCCGCCGCCGCCGCCGCCGCCA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02723.hp2 HG02896.hp2 HG02897.hp2 others(1): Show HG02723.hp2 HG02896.hp2 HG02897.hp2 NA19030.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0007 a0007c0010t0007	a0007c0010t0007g0345 a0007c0010t0007g0346 a0007c0010t0007g0347 others(1): Show a0007c0010t0007g0345 a0007c0010t0007g0346 a0007c0010t0007g0347 a0007c0010t0007g0348	4	422	0.0095	23	c.-19 others(30): Show c.-19_-18insTGGCGGCGGCGGCGGCGGCGGCG	POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding	1/21	19		chr19	TogoVar
POM121L2_chr6_27303377_27317273	27305474	G G	GGGTTTCA others(16): Show GGGTTTCACCGTGTTAGCCAGGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	428	0.0023	23	c.35 others(34): Show c.3566_*3588dupATCCTGGCTAACACGGTGAAACC	POM121L2	ENSG00000158553.5	transcript	ENST00000444565.2	protein_coding		2902		chr6	TogoVar
POMZP3_chr7_76604986_76632279	76615973	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 NA18906.hp1 HG02895.hp2 NA18906.hp1	a0000 a0000	a0000c0002 a0000c0004 a0000c0002 a0000c0004	a0000c0002t0007 a0000c0004t0003 a0000c0002t0007 a0000c0004t0003	a0000c0002t0007g0244 a0000c0004t0003g0191 a0000c0002t0007g0244 a0000c0004t0003g0191	2	423	0.0047	23	c.345 others(40): Show c.345+2209_345+2210insTTTTTTTTTTTTTTTTTTTTTTT	POMZP3	ENSG00000146707.15	transcript	ENST00000310842.9	protein_coding	4/6			chr7	TogoVar
PON1_chr7_95292676_95329532	95302096	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA19079.hp2 NA18966.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0019 a0001c0001t0002 a0001c0001t0019	a0001c0001t0002g0196 a0001c0001t0019g0216 a0001c0001t0002g0196 a0001c0001t0019g0216	2	434	0.0046	23	c.909 others(37): Show c.909+86_909+108dupTTTTTTTTTTTTTTTTTTTTTTT	PON1	ENSG00000005421.9	transcript	ENST00000222381.8	protein_coding	8/8			chr7	TogoVar
PON2_chr7_95399862_95440028	95417690	G G	GCACATAC others(16): Show GCACATACACATGTACACACAGAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01993.hp2 HG02148.hp2 others(9): Show HG01192.hp1 HG01993.hp2 HG02148.hp2 HG02155.hp1 HG03491.hp1 HG03492.hp1 HG04199.hp2 NA18967.hp2 NA18995.hp1 NA19060.hp2 NA19086.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0058 others(4): Show a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0058 a0001c0001t0001g0074 a0001c0001t0001g0175 a0001c0001t0001g0213 a0001c0001t0001g0215	12	398	0.0302	23	c.146 others(40): Show c.146-1394_146-1393insGTCTGTGTGTACATGTGTATGTG	PON2	ENSG00000105854.13	transcript	ENST00000222572.8	protein_coding	2/8			chr7	TogoVar
POPDC2_chr3_119637056_119665589	119640962	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0007 a0007	a0007c0005 a0007c0005	a0007c0005t0002 a0007c0005t0002	a0007c0005t0002g0047 a0007c0005t0002g0047	1	410	0.0024	23	c.16 others(34): Show c.1620_*1642dupTTTTTTTTTTTTTTTTTTTTTTT	POPDC2	ENSG00000121577.14	transcript	ENST00000493094.6	protein_coding		1093		chr3	TogoVar
POT1_chr7_124817386_124934825	124817689	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG01123.hp2 HG01261.hp1 others(9): Show HG00438.hp1 HG01123.hp2 HG01261.hp1 NA18964.hp1 NA18974.hp1 NA18987.hp1 NA18993.hp2 NA19006.hp1 NA19012.hp2 NA19056.hp2 NA19084.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0014 a0001c0001t0001g0269 a0001c0001t0001g0274 others(9): Show a0001c0001t0001g0014 a0001c0001t0001g0269 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0283 a0001c0001t0001g0291 a0001c0001t0001g0299 a0001c0001t0001g0312 a0001c0001t0001g0319 a0001c0003t0001g0302 a0001c0003t0001g0314 a0001c0003t0001g0316	12	346	0.0347	23	c.62 others(34): Show c.6272_*6273insAAAAAAAAAAAAAAAAAAAAAAA	POT1	ENSG00000128513.16	transcript	ENST00000357628.8	protein_coding		4696		chr7	TogoVar
POTED_chr21_13604777_13650823	13637004	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02273.hp2 HG04184.hp2 HG01346.hp1 HG02273.hp2 HG04184.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0005 a0002c0002 a0004c0005	a0002c0002t0002 a0004c0005t0002 a0002c0002t0002 a0004c0005t0002	a0002c0002t0002g0070 a0004c0005t0002g0082 a0004c0005t0002g0114 a0002c0002t0002g0070 a0004c0005t0002g0082 a0004c0005t0002g0114	3	416	0.0072	23	c.141 others(42): Show c.1410-2510_1410-2509insATATATATATATATATATATATT	POTED	ENSG00000166351.11	transcript	ENST00000299443.6	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
POTED_chr21_13604777_13650823	13637004	A A	ATATATAT others(16): Show ATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0112 a0004c0005t0002g0112	1	416	0.0024	23	c.141 others(42): Show c.1410-2510_1410-2509insATATATATATATATATATATTTT	POTED	ENSG00000166351.11	transcript	ENST00000299443.6	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
POTED_chr21_13604777_13650823	13637005	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01175.hp1 HG01255.hp1 others(3): Show HG01074.hp2 HG01175.hp1 HG01255.hp1 HG01258.hp2 HG01346.hp2 HG03669.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0011 a0004c0005t0002g0043 a0004c0005t0002g0011 a0004c0005t0002g0043	6	416	0.0144	23	c.141 others(42): Show c.1410-2510_1410-2509insATATATATATATATATATATATA	POTED	ENSG00000166351.11	transcript	ENST00000299443.6	protein_coding	9/10			chr21	TogoVar
POTED_chr21_13604777_13650823	13646287	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0201 a0001c0003t0003g0201	1	416	0.0024	23	c.47 others(34): Show c.4721_*4722insAAAAAAAAAAAAAAAAAACACAC	POTED	ENSG00000166351.11	transcript	ENST00000299443.6	protein_coding		465		chr21	TogoVar
POTED_chr21_13604777_13650823	13646287	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAACAAAACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02109.hp1 HG01243.hp1 HG02109.hp1	a0010 a0011 a0010 a0011	a0010c0011 a0011c0013 a0010c0011 a0011c0013	a0010c0011t0013 a0011c0013t0013 a0010c0011t0013 a0011c0013t0013	a0010c0011t0013g0058 a0011c0013t0013g0221 a0010c0011t0013g0058 a0011c0013t0013g0221	2	416	0.0048	23	c.47 others(34): Show c.4721_*4722insAAAAAAAAAAAAACAAAACACAC	POTED	ENSG00000166351.11	transcript	ENST00000299443.6	protein_coding		465		chr21	TogoVar
POTEG_chr14_19397486_19439341	19434960	T T	TTACAAGC others(16): Show TTACAAGCCAGCCAAGCCACTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0012 a0007c0013t0012	a0007c0013t0012g0016 a0007c0013t0012g0016	1	111	0.0090	23	c.-67 others(32): Show c.-672_-671insGGCAGTGGCTTGGCTGGCTTGTA	POTEG	ENSG00000187537.13	transcript	ENST00000547848.5	protein_coding		620		chr14	TogoVar
POTEG_chr14_19397486_19439341	19434973	T T	TTACAAGC others(16): Show TTACAAGCCAGCCAAGCCACTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0024 a0024	a0024c0031 a0024c0031	a0024c0031t0017 a0024c0031t0017	a0024c0031t0017g0098 a0024c0031t0017g0098	1	111	0.0090	23	c.-68 others(32): Show c.-685_-684insGGCAGTGGCTTGGCTGGCTTGTA	POTEG	ENSG00000187537.13	transcript	ENST00000547848.5	protein_coding		633		chr14	TogoVar
POTEG_chr14_19397486_19439341	19434973	T T	TTACAAGC others(16): Show TTACAAGCTAGCCAAGCCACTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0017 a0017	a0017c0042 a0017c0042	a0017c0042t0015 a0017c0042t0015	a0017c0042t0015g0105 a0017c0042t0015g0105	1	111	0.0090	23	c.-68 others(32): Show c.-685_-684insGGCAGTGGCTTGGCTAGCTTGTA	POTEG	ENSG00000187537.13	transcript	ENST00000547848.5	protein_coding		633		chr14	TogoVar
POTEG_chr14_19397486_19439341	19434986	T T	TTACAAGC others(16): Show TTACAAGCCAGCCAAGCCACTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01346.hp2 HG02523.hp2 others(9): Show HG01261.hp2 HG01346.hp2 HG02523.hp2 HG02647.hp2 HG02895.hp2 HG02896.hp1 HG03195.hp1 HG03195.hp2 HG03704.hp2 HG03834.hp1 NA18988.hp1 NA21309.hp2	a0004 a0006 a0007 others(2): Show a0004 a0006 a0007 a0021 a0022	a0004c0004 a0006c0005 a0007c0010 others(2): Show a0004c0004 a0006c0005 a0007c0010 a0021c0039 a0022c0038	a0004c0004t0005 a0004c0004t0007 a0006c0005t0005 others(3): Show a0004c0004t0005 a0004c0004t0007 a0006c0005t0005 a0007c0010t0009 a0021c0039t0013 a0022c0038t0005	a0004c0004t0005g0011 a0004c0004t0007g0006 a0004c0004t0007g0007 others(9): Show a0004c0004t0005g0011 a0004c0004t0007g0006 a0004c0004t0007g0007 a0004c0004t0007g0012 a0004c0004t0007g0013 a0006c0005t0005g0023 a0006c0005t0005g0024 a0007c0010t0009g0015 a0007c0010t0009g0017 a0007c0010t0009g0018 a0021c0039t0013g0026 a0022c0038t0005g0025	12	111	0.1081	23	c.-69 others(32): Show c.-698_-697insGGCAGTGGCTTGGCTGGCTTGTA	POTEG	ENSG00000187537.13	transcript	ENST00000547848.5	protein_coding		646		chr14	TogoVar
POTEM_chr14_18962434_19008752	18966785	C C	CGGCAGTG others(16): Show CGGCAGTGGCTTGGCTGGCTTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG03453.hp1 HG00423.hp2 HG03453.hp1	a0010 a0021 a0010 a0021	a0010c0015 a0021c0018 a0010c0015 a0021c0018	a0010c0015t0008 a0021c0018t0010 a0010c0015t0008 a0021c0018t0010	a0010c0015t0008g0005 a0021c0018t0010g0001 a0010c0015t0008g0005 a0021c0018t0010g0001	2	67	0.0299	23	c.-70 others(32): Show c.-701_-700insGGCAGTGGCTTGGCTGGCTTGTA	POTEM	ENSG00000222036.8	transcript	ENST00000547889.6	protein_coding		648		chr14	TogoVar
POTEM_chr14_18962434_19008752	18966798	C C	CGGCAGTG others(16): Show CGGCAGTGGCTTGGCTAGCTTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0013 a0013	a0013c0023 a0013c0023	a0013c0023t0038 a0013c0023t0038	a0013c0023t0038g0067 a0013c0023t0038g0067	1	67	0.0149	23	c.-68 others(32): Show c.-688_-687insGGCAGTGGCTTGGCTAGCTTGTA	POTEM	ENSG00000222036.8	transcript	ENST00000547889.6	protein_coding		635		chr14	TogoVar
POTEM_chr14_18962434_19008752	18966798	C C	CGGCAGTG others(16): Show CGGCAGTGGCTTGGCTGGCTTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG01255.hp2 HG02027.hp2 others(5): Show HG00738.hp2 HG01255.hp2 HG02027.hp2 HG03130.hp2 HG03688.hp1 NA18971.hp2 NA19058.hp2 NA20300.hp2	a0001 a0006 a0016 a0001 a0006 a0016	a0001c0001 a0006c0007 a0016c0013 a0001c0001 a0006c0007 a0016c0013	a0001c0001t0001 a0001c0001t0004 a0001c0001t0025 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0025 a0006c0007t0001 a0016c0013t0016	a0001c0001t0001g0049 a0001c0001t0001g0059 a0001c0001t0001g0060 others(5): Show a0001c0001t0001g0049 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0004g0010 a0001c0001t0004g0047 a0001c0001t0025g0058 a0006c0007t0001g0056 a0016c0013t0016g0063	8	67	0.1194	23	c.-68 others(32): Show c.-688_-687insGGCAGTGGCTTGGCTGGCTTGTA	POTEM	ENSG00000222036.8	transcript	ENST00000547889.6	protein_coding		635		chr14	TogoVar
POU2AF2_chr11_111240725_111291401	111276453	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0088 a0002c0002t0001g0088	1	380	0.0026	23	c.121 others(40): Show c.121-4944_121-4943insAAAAAAAAAAAAAAAAATATATA	POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111276453	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	380	0.0026	23	c.121 others(40): Show c.121-4944_121-4943insAAAAAAAAAAAAAAATATATATA	POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111276453	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0082 a0002c0002t0001g0082	1	380	0.0026	23	c.121 others(40): Show c.121-4944_121-4943insAAAAAAAAAAAAATATATATATA	POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111276453	A A	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	380	0.0026	23	c.121 others(40): Show c.121-4944_121-4943insAAAAAAAAATATATATATATATA	POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111280057	A A	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	380	0.0026	23	c.121 others(40): Show c.121-1340_121-1339insAAAAATATATATATATATATATA	POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111280057	A A	AAATATAT others(16): Show AAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02970.hp2 HG01516.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0248 a0001c0001t0001g0056 a0001c0001t0001g0248	2	380	0.0053	23	c.121 others(40): Show c.121-1340_121-1339insATATATATATATATATATATATA	POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111280057	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 NA18522.hp1 HG01167.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0148 a0001c0001t0001g0066 a0001c0001t0001g0148	2	380	0.0053	23	c.121 others(40): Show c.121-1341_121-1340insTATATATATATATATATATATAT	POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4			chr11	TogoVar
POU6F2_chr7_38972909_39473601	39016057	T T	TATATATA others(16): Show TATATATAATATATAATATATATC	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0132 a0002c0004t0003g0132	1	170	0.0059	23	c.105 others(42): Show c.105+38013_105+38014insATATATATCATATATAATATATA	POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
PPA2_chr4_105364077_105479062	105450601	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 NA18970.hp2 HG00733.hp1 NA18970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0017 a0002c0002t0002g0031 a0002c0002t0002g0017 a0002c0002t0002g0031	2	366	0.0055	23	c.268 others(40): Show c.268-1221_268-1199dupAAAAAAAAAAAAAAAAAAAAAAA	PPA2	ENSG00000138777.20	transcript	ENST00000341695.10	protein_coding	3/11			chr4	TogoVar
PPARD_chr6_35337558_35433178	35377871	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA19030.hp2 HG01074.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0011 a0001c0001t0007 a0001c0002t0011	a0001c0001t0007g0083 a0001c0002t0011g0008 a0001c0001t0007g0083 a0001c0002t0011g0008	2	238	0.0084	23	c.-10 others(44): Show c.-102+30732_-102+30733insTTTTTTTTTTTTTTTTTTTTTTT	PPARD	ENSG00000112033.14	transcript	ENST00000360694.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPARGC1B_chr5_149725310_149860022	149750449	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	320	0.0031	23	c.78+ others(40): Show c.78+20029_78+20030insATATATATATATATATATATATA	PPARGC1B	ENSG00000155846.17	transcript	ENST00000309241.10	protein_coding	1/11			chr5	TogoVar
PPARGC1B_chr5_149725310_149860022	149799687	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0030 a0002c0002t0008g0030	1	320	0.0031	23	c.79- others(40): Show c.79-20744_79-20743insTTTTTTTTTTTTTTTTTTTTTTT	PPARGC1B	ENSG00000155846.17	transcript	ENST00000309241.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
PPEF2_chr4_75854867_75907452	75856882	A A	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	270	0.0037	23	c.37 others(34): Show c.3784_*3785insAAAAAAATATATATATATATATA	PPEF2	ENSG00000156194.19	transcript	ENST00000286719.12	protein_coding		2984		chr4	TogoVar
PPEF2_chr4_75854867_75907452	75856882	A A	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02129.hp2 HG02056.hp1 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0105 a0001c0001t0001g0059 a0001c0001t0001g0105	2	270	0.0074	23	c.37 others(34): Show c.3784_*3785insAAAAAAAAATATATATATATATA	PPEF2	ENSG00000156194.19	transcript	ENST00000286719.12	protein_coding		2984		chr4	TogoVar
PPEF2_chr4_75854867_75907452	75856882	A A	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0208 a0008c0010t0001g0208	1	270	0.0037	23	c.37 others(34): Show c.3784_*3785insAAAAAAAAAAATATATATATATA	PPEF2	ENSG00000156194.19	transcript	ENST00000286719.12	protein_coding		2984		chr4	TogoVar
PPFIA2_chr12_81252975_81764350	81642738	T T	TATGTATT others(16): Show TATGTATTATATACATGCATGTAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	168	0.0060	23	c.303 others(42): Show c.303+34052_303+34053insGTACATGCATGTATATAATACAT	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	4/32			chr12	TogoVar
PPFIA3_chr19_49114544_49156026	49137628	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	362	0.0028	23	c.185 others(40): Show c.1854-569_1854-547dupAAAAAAAAAAAAAAAAAAAAAAA	PPFIA3	ENSG00000177380.14	transcript	ENST00000334186.9	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr19	TogoVar
PPFIBP1_chr12_27519206_27700564	27644244	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	314	0.0032	23	c.271 others(40): Show c.271-1815_271-1793dupTTTTTTTTTTTTTTTTTTTTTTT	PPFIBP1	ENSG00000110841.14	transcript	ENST00000228425.11	protein_coding	4/29		INFO_REALIGN_3_PRIME	chr12	TogoVar
PPHLN1_chr12_42321167_42447181	42360458	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0221 a0001c0001t0006g0221	1	376	0.0027	23	c.299 others(40): Show c.299+5243_299+5265dupTTTTTTTTTTTTTTTTTTTTTTT	PPHLN1	ENSG00000134283.18	transcript	ENST00000358314.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PPIG_chr2_169579351_169646406	169606591	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0136 a0001c0001t0032g0136	1	382	0.0026	23	c.244 others(38): Show c.244+462_244+463insAAAAAAAAAAAAAAAAAAAAAAA	PPIG	ENSG00000138398.17	transcript	ENST00000260970.8	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
PPIG_chr2_169579351_169646406	169644779	A A	ACTTCGAT others(16): Show ACTTCGATAATAGCTATTATCAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0111 a0003c0003t0004g0111	1	382	0.0026	23	c.72 others(34): Show c.7256_*7257insCTTCGATAATAGCTATTATCAAT	PPIG	ENSG00000138398.17	transcript	ENST00000260970.8	protein_coding		3374		chr2	TogoVar
PPIL2_chr22_21661012_21702907	21664957	A A	AAAAATAC others(16): Show AAAAATACAAAAAATTAGCCTACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 NA18906.hp2 HG03195.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0231 a0001c0001t0003g0252 a0001c0001t0003g0231 a0001c0001t0003g0252	2	378	0.0053	23	c.-11 others(34): Show c.-1143_-1142insAAAATACAAAAAATTAGCCTACT	PPIL2	ENSG00000100023.20	transcript	ENST00000398831.8	protein_coding		1054		chr22	TogoVar

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Search Results (Total: 8696 hits)