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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

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
UBE2U_chr1_64198623_64272368	64201437	C C	CCGCCCGG others(42): Show CCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00438.hp1 others(84): Show HG00099.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01255.hp1 HG01258.hp1 HG01346.hp1 HG01433.hp1 HG01515.hp1 HG01884.hp1 HG01934.hp1 HG01943.hp2 HG01993.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02165.hp1 HG02273.hp2 HG02293.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02647.hp2 HG02818.hp2 HG02970.hp2 HG03017.hp1 HG03098.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03486.hp2 HG03579.hp2 HG04199.hp2 HG04204.hp1 NA18522.hp2 NA18612.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18949.hp2 NA18953.hp2 NA18956.hp1 NA18959.hp1 NA18966.hp1 NA18970.hp1 NA18971.hp2 NA18975.hp2 NA18977.hp1 NA18983.hp2 NA18985.hp2 NA18992.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp2 NA19000.hp1 NA19003.hp1 NA19009.hp1 NA19030.hp2 NA19055.hp1 NA19066.hp1 NA19070.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19091.hp2 NA19240.hp1 NA20752.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0010 a0002c0003 a0001c0001 a0001c0010 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0001c0010t0003 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0010t0003 a0002c0003t0002	a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0019 others(83): Show a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0031 a0001c0001t0002g0039 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0010t0003g0036 a0002c0003t0002g0214	87	330	0.2636	49	c.-26 others(60): Show c.-2614_-2613insCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCT	UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding		2185		chr1	TogoVar
UBE2U_chr1_64198623_64272368	64201438	C C	CGCCCGGC others(42): Show CGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	330	0.0030	49	c.-26 others(60): Show c.-2613_-2612insGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCTT	UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding		2184		chr1	TogoVar
UBE2U_chr1_64198623_64272368	64201455	C C	CGTCCGGG others(42): Show CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCTCGCCCGGCCAGCCGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01255.hp2 HG01934.hp2 others(19): Show HG01192.hp1 HG01255.hp2 HG01934.hp2 HG02055.hp1 HG02258.hp1 HG02451.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02809.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03516.hp1 NA19043.hp2 NA20129.hp2 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0008 a0002c0002 others(2): Show a0001c0001 a0001c0008 a0002c0002 a0002c0006 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0008t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0008t0001 a0002c0002t0001 a0002c0006t0001 a0005c0007t0001	a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0304 others(19): Show a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0304 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0008t0001g0287 a0001c0008t0001g0288 a0002c0002t0001g0289 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0303 a0002c0006t0001g0293 a0002c0006t0001g0294 a0005c0007t0001g0290 a0005c0007t0001g0299	22	330	0.0667	49	c.-25 others(60): Show c.-2596_-2595insGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCTCGC CCGGCCAGCCGCCCT	UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding		2167		chr1	TogoVar
UBE2U_chr1_64198623_64272368	64239113	A A	AGAAGAAG others(42): Show AGAAGAAGGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0026	1	330	0.0030	49	c.596 others(66): Show c.596-2532_596-2531insGAAGAAGAAGAGGAAGAGGAAGAGGAAG AGGAAGAGGAAGAGGAAGAAG	UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
UCN3_chr10_5359966_5379692	5370750	G G	GCGTGTGT others(42): Show GCGTGTGTATGCGTGTGTATGTGTGTGTATGTGTGTGTGTATATGTGTGT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0396 a0001c0002t0005g0397 a0001c0002t0005g0398 a0001c0002t0005g0396 a0001c0002t0005g0397 a0001c0002t0005g0398	3	468	0.0064	49	c.-6- others(64): Show c.-6-2965_-6-2964insCGTGTGTATGCGTGTGTATGTGTGTGTATG TGTGTGTGTATATGTGTGT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1			chr10	TogoVar
UGT1A10_chr2_233631448_233778300	233773009	G G	GACTAAAT others(42): Show GACTAAATCAAAAAAATAATAAAAAAATAAATAAAGAAAAAGAAAATAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0162 a0001c0001t0009g0162	1	302	0.0033	49	c.45 others(58): Show c.450_*451insACTAAATCAAAAAAATAATAAAAAAATAAATAAAGA AAAAGAAAATAGA	UGT1A10	ENSG00000242515.6	transcript	ENST00000344644.10	protein_coding	5/5	451		chr2	TogoVar
UGT1A1_chr2_233755270_233778300	233773009	G G	GACTAAAT others(42): Show GACTAAATCAAAAAAATAATAAAAAAATAAATAAAGAAAAAGAAAATAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0018 a0001c0001t0008g0018	1	412	0.0024	49	c.45 others(58): Show c.450_*451insACTAAATCAAAAAAATAATAAAAAAATAAATAAAGA AAAAGAAAATAGA	UGT1A1	ENSG00000241635.8	transcript	ENST00000305208.10	protein_coding	5/5	451		chr2	TogoVar
UGT1A3_chr2_233724042_233778300	233773009	G G	GACTAAAT others(42): Show GACTAAATCAAAAAAATAATAAAAAAATAAATAAAGAAAAAGAAAATAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0031 a0002c0002t0009g0031	1	350	0.0029	49	c.45 others(58): Show c.450_*451insACTAAATCAAAAAAATAATAAAAAAATAAATAAAGA AAAAGAAAATAGA	UGT1A3	ENSG00000288702.1	transcript	ENST00000482026.6	protein_coding	5/5	451		chr2	TogoVar
UGT1A4_chr2_233713736_233778300	233773009	G G	GACTAAAT others(42): Show GACTAAATCAAAAAAATAATAAAAAAATAAATAAAGAAAAAGAAAATAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0060 a0001c0001t0008g0060	1	332	0.0030	49	c.45 others(58): Show c.450_*451insACTAAATCAAAAAAATAATAAAAAAATAAATAAAGA AAAAGAAAATAGA	UGT1A4	ENSG00000244474.6	transcript	ENST00000373409.8	protein_coding	5/5	451		chr2	TogoVar
UGT1A5_chr2_233707907_233778300	233773009	G G	GACTAAAT others(42): Show GACTAAATCAAAAAAATAATAAAAAAATAAATAAAGAAAAAGAAAATAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0105 a0001c0001t0008g0105	1	330	0.0030	49	c.45 others(58): Show c.450_*451insACTAAATCAAAAAAATAATAAAAAAATAAATAAAGA AAAAGAAAATAGA	UGT1A5	ENSG00000288705.1	transcript	ENST00000373414.4	protein_coding	5/5	451		chr2	TogoVar
UGT1A6_chr2_233687890_233778300	233773009	G G	GACTAAAT others(42): Show GACTAAATCAAAAAAATAATAAAAAAATAAATAAAGAAAAAGAAAATAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0014 a0002c0002t0008g0014	1	332	0.0030	49	c.45 others(58): Show c.450_*451insACTAAATCAAAAAAATAATAAAAAAATAAATAAAGA AAAAGAAAATAGA	UGT1A6	ENSG00000167165.19	transcript	ENST00000305139.11	protein_coding	5/5	451		chr2	TogoVar
UGT1A7_chr2_233676901_233778300	233773009	G G	GACTAAAT others(42): Show GACTAAATCAAAAAAATAATAAAAAAATAAATAAAGAAAAAGAAAATAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0117 a0002c0002t0008g0117	1	320	0.0031	49	c.45 others(58): Show c.450_*451insACTAAATCAAAAAAATAATAAAAAAATAAATAAAGA AAAAGAAAATAGA	UGT1A7	ENSG00000244122.3	transcript	ENST00000373426.4	protein_coding	5/5	451		chr2	TogoVar
UGT1A8_chr2_233612633_233778300	233773009	G G	GACTAAAT others(42): Show GACTAAATCAAAAAAATAATAAAAAAATAAATAAAGAAAAAGAAAATAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0186 a0001c0001t0012g0186	1	290	0.0035	49	c.45 others(58): Show c.450_*451insACTAAATCAAAAAAATAATAAAAAAATAAATAAAGA AAAAGAAAATAGA	UGT1A8	ENSG00000242366.4	transcript	ENST00000373450.5	protein_coding	5/5	451		chr2	TogoVar
UGT1A9_chr2_233666898_233778300	233773009	G G	GACTAAAT others(42): Show GACTAAATCAAAAAAATAATAAAAAAATAAATAAAGAAAAAGAAAATAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0227 a0001c0001t0009g0227	1	318	0.0031	49	c.45 others(58): Show c.450_*451insACTAAATCAAAAAAATAATAAAAAAATAAATAAAGA AAAAGAAAATAGA	UGT1A9	ENSG00000241119.2	transcript	ENST00000354728.5	protein_coding	5/5	451		chr2	TogoVar
ULK2_chr17_19765830_19872936	19814439	T T	TACATATA others(42): Show TACATATATATATATACATATATATATATATATACATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00738.hp2 HG01358.hp1 others(11): Show HG00438.hp2 HG00738.hp2 HG01358.hp1 HG01928.hp2 HG02155.hp2 NA18951.hp2 NA18957.hp2 NA18961.hp1 NA18984.hp2 NA18986.hp2 NA19012.hp2 NA19063.hp1 NA19091.hp2 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0051 a0001c0003t0004 a0001c0003t0051	a0001c0003t0004g0205 a0001c0003t0004g0207 a0001c0003t0004g0208 others(11): Show a0001c0003t0004g0205 a0001c0003t0004g0207 a0001c0003t0004g0208 a0001c0003t0004g0209 a0001c0003t0004g0212 a0001c0003t0004g0213 a0001c0003t0004g0214 a0001c0003t0004g0218 a0001c0003t0004g0219 a0001c0003t0004g0220 a0001c0003t0004g0221 a0001c0003t0004g0223 a0001c0003t0004g0226 a0001c0003t0051g0227	14	288	0.0486	49	c.109 others(68): Show c.1096+2309_1096+2310insTATATATATATATATGTATATATATA TATATATGTATATATATATATGT	ULK2	ENSG00000083290.20	transcript	ENST00000395544.9	protein_coding	13/26			chr17	TogoVar
ULK3_chr15_74831118_74848156	74837505	T T	TGAGAGAG others(42): Show TGAGAGAGTGAAGGACGGGGACACGAGCCACAGCGCAGTGCCGAGCAAGA	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA19083.hp2 NA18953.hp2 NA19083.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0058 a0002c0001t0001g0059 a0002c0001t0001g0058 a0002c0001t0001g0059	2	440	0.0046	49	c.133 others(64): Show c.1336-71_1336-70insTCTTGCTCGGCACTGCGCTGTGGCTCGTGT CCCCGTCCTTCACTCTCTC	ULK3	ENSG00000140474.14	transcript	ENST00000440863.7	protein_coding	14/15			chr15	TogoVar
ULK3_chr15_74831118_74848156	74837554	T T	TGAGAGAG others(42): Show TGAGAGAGTGAAGGACGGGGACACGAGCCACAGCGCAGTGCCGAGCAAGA	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0039 a0001c0002t0002g0039	1	440	0.0023	49	c.133 others(66): Show c.1335+148_1336-120dupTCTTGCTCGGCACTGCGCTGTGGCTCGT GTCCCCGTCCTTCACTCTCTC	ULK3	ENSG00000140474.14	transcript	ENST00000440863.7	protein_coding	14/15			chr15	TogoVar
ULK4_chr3_41241599_41967103	41306319	C C	CGCCAGCC others(42): Show CGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp2 HG02622.hp2 others(3): Show HG01891.hp1 HG02258.hp2 HG02622.hp2 HG03453.hp2 HG03486.hp1 HG03540.hp1	a0002 a0003 a0004 others(2): Show a0002 a0003 a0004 a0010 a0015	a0002c0016 a0003c0002 a0004c0004 others(2): Show a0002c0016 a0003c0002 a0004c0004 a0010c0008 a0015c0015	a0002c0016t0001 a0003c0002t0005 a0004c0004t0002 others(2): Show a0002c0016t0001 a0003c0002t0005 a0004c0004t0002 a0010c0008t0002 a0015c0015t0001	a0002c0016t0001g0057 a0003c0002t0005g0068 a0004c0004t0002g0016 others(3): Show a0002c0016t0001g0057 a0003c0002t0005g0068 a0004c0004t0002g0016 a0010c0008t0002g0020 a0010c0008t0002g0021 a0015c0015t0001g0005	6	72	0.0833	49	c.367 others(70): Show c.3679-56746_3679-56745insCGGGCAGGGGGCTGACCCCCCCAC CTCCCTCCCGGATGGGGCGGCTGGC	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	35/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41706361	T T	TTATATAT others(42): Show TTATATATATATTTAATATATATATTTATATATATATTTATATATATTTA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0002 a0004c0009t0002	a0004c0009t0002g0018 a0004c0009t0002g0018	1	72	0.0139	49	c.263 others(68): Show c.2635-1057_2635-1056insTAAATATATATAAATATATATATAAA TATATATATTAAATATATATATA	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	25/36			chr3	TogoVar
UMOD_chr16_20328051_20357715	20355498	A A	AGTTCAAG others(42): Show AGTTCAAGGAGGCAAGTAGAGGCTGGCTCACTGCCCTACCTCCCTCCAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0067 a0001c0003t0002g0067	1	404	0.0025	49	c.-29 others(60): Show c.-2913_-2912insGTTGGAGGGAGGTAGGGCAGTGAGCCAGCCTCTA CTTGCCTCCTTGAAC	UMOD	ENSG00000169344.16	transcript	ENST00000396138.9	protein_coding		2784		chr16	TogoVar
UNC13B_chr9_35157009_35410335	35257370	T T	TAAAAATA others(42): Show TAAAAATATTTATATAAATATTTATAAAAATATTTATATAAATATTTATA	intron_variant intron_variant	MODIFIER	HG01346.hp2 NA18990.hp2 NA19002.hp2 others(1): Show HG01346.hp2 NA18990.hp2 NA19002.hp2 NA20805.hp2	a0002 a0011 a0002 a0011	a0002c0003 a0002c0010 a0002c0031 others(1): Show a0002c0003 a0002c0010 a0002c0031 a0011c0017	a0002c0003t0001 a0002c0010t0001 a0002c0031t0001 others(1): Show a0002c0003t0001 a0002c0010t0001 a0002c0031t0001 a0011c0017t0001	a0002c0003t0001g0045 a0002c0010t0001g0099 a0002c0031t0001g0038 others(1): Show a0002c0003t0001g0045 a0002c0010t0001g0099 a0002c0031t0001g0038 a0011c0017t0001g0022	4	224	0.0179	49	c.469 others(66): Show c.469-1619_469-1618insATATTTATATAAATATTTATAAAAATAT TTATATAAATATTTATAAAAA	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	6/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13B_chr9_35157009_35410335	35257370	T T	TATAAATA others(42): Show TATAAATATTTATATAAATATTTATAAAAATATTTATATAAATATTTATA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0032 a0032	a0032c0029 a0032c0029	a0032c0029t0001 a0032c0029t0001	a0032c0029t0001g0050 a0032c0029t0001g0050	1	224	0.0045	49	c.469 others(66): Show c.469-1622_469-1621insTAAATATTTATATAAATATTTATAAAAA TATTTATATAAATATTTATAA	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	6/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC5B_chr10_71207570_71307864	71296802	G G	GTCGGGGC others(42): Show GTCGGGGCCACATATTCCAGCTGCATACCACTCTGGCAGAGGTGAGGGAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01070.hp1 HG00741.hp2 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0182 a0001c0001t0014g0260 a0001c0001t0014g0182 a0001c0001t0014g0260	2	368	0.0054	49	c.249 others(64): Show c.2490+60_2490+61insTCGGGGCCACATATTCCAGCTGCATACCAC TCTGGCAGAGGTGAGGGAA	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/16			chr10	TogoVar
UNC5B_chr10_71207570_71307864	71296909	G G	GCAGATAT others(42): Show GCAGATATTCCAGCTGCACACCACGCTGGCGGAGGTGAGGGAAGGGCGGC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG04115.hp2 HG01070.hp2 HG01071.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0027 a0001c0001t0002 a0001c0001t0027	a0001c0001t0002g0081 a0001c0001t0027g0044 a0001c0001t0027g0259 a0001c0001t0002g0081 a0001c0001t0027g0044 a0001c0001t0027g0259	3	368	0.0082	49	c.249 others(66): Show c.2490+178_2490+226dupAGCTGCACACCACGCTGGCGGAGGTGAG GGAAGGGCGGCCAGATATTCC	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC5B_chr10_71207570_71307864	71296909	G G	GCAGATAT others(42): Show GCAGATATTCCGGCTGCACACCACGCTGGCGGAGGTGAGGGAAGGGCGGC	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0051 a0001c0003t0001g0051	1	368	0.0027	49	c.249 others(66): Show c.2490+177_2490+178insGGCTGCACACCACGCTGGCGGAGGTGAG GGAAGGGCGGCCAGATATTCC	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC5B_chr10_71207570_71307864	71296920	A A	AGCTGCAC others(42): Show AGCTGCACACCACGCTGGCGGAGGTGAGGGAAGGGCGGCCAGATATTCCG	intron_variant intron_variant	MODIFIER	HG01358.hp2 NA19087.hp1 HG01358.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0003 a0001c0001t0001 a0001c0004t0003	a0001c0001t0001g0199 a0001c0004t0003g0156 a0001c0001t0001g0199 a0001c0004t0003g0156	2	368	0.0054	49	c.249 others(66): Show c.2490+191_2490+239dupGCTGGCGGAGGTGAGGGAAGGGCGGCCA GATATTCCGGCTGCACACCAC	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC5B_chr10_71207570_71307864	71296938	C C	CGGAGGTG others(42): Show CGGAGGTGAGGGAAGGGCGGCCAGATATTCCGGCTGCACACCACTCTGGT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01515.hp2 NA19084.hp1 others(1): Show HG01169.hp2 HG01515.hp2 NA19084.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0028 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0028 a0001c0002t0078	a0001c0001t0001g0147 a0001c0001t0002g0274 a0001c0002t0028g0155 others(1): Show a0001c0001t0001g0147 a0001c0001t0002g0274 a0001c0002t0028g0155 a0001c0002t0078g0123	4	368	0.0109	49	c.249 others(66): Show c.2490+236_2490+284dupCCACTCTGGTGGAGGTGAGGGAAGGGCG GCCAGATATTCCGGCTGCACA	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
URB1_chr21_32306018_32398012	32332522	C C	CAAAAAAA others(42): Show CAAAAAAAAAAAAAAAAAAATCCCCAAACTCAAGTTAAAAAAACAAGACA	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	338	0.0030	49	c.496 others(66): Show c.4960+794_4960+795insTGTCTTGTTTTTTTAACTTGAGTTTGGG GATTTTTTTTTTTTTTTTTTT	URB1	ENSG00000142207.7	transcript	ENST00000382751.4	protein_coding	30/38			chr21	TogoVar
URB1_chr21_32306018_32398012	32332522	C C	CAAAAAAA others(42): Show CAAAAAAAAAAAAAAAAAATCCCCAAACTCAAGTTAAAAAAACAAGACAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02698.hp1 HG02886.hp2 others(6): Show HG01884.hp1 HG02698.hp1 HG02886.hp2 HG03490.hp2 HG03492.hp1 HG03654.hp2 HG04199.hp2 NA19057.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0033 a0001c0001 a0001c0002 a0001c0033	a0001c0001t0001 a0001c0002t0003 a0001c0033t0001 a0001c0001t0001 a0001c0002t0003 a0001c0033t0001	a0001c0001t0001g0101 a0001c0002t0003g0204 a0001c0002t0003g0274 others(6): Show a0001c0001t0001g0101 a0001c0002t0003g0204 a0001c0002t0003g0274 a0001c0002t0003g0280 a0001c0002t0003g0281 a0001c0002t0003g0282 a0001c0002t0003g0283 a0001c0002t0003g0301 a0001c0033t0001g0161	9	338	0.0266	49	c.496 others(66): Show c.4960+794_4960+795insTTGTCTTGTTTTTTTAACTTGAGTTTGG GGATTTTTTTTTTTTTTTTTT	URB1	ENSG00000142207.7	transcript	ENST00000382751.4	protein_coding	30/38			chr21	TogoVar
USP13_chr3_179648040_179794401	179728032	A A	ACCACCTC others(42): Show ACCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGGCTGACCCCC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0237 a0001c0001t0004g0237	1	300	0.0033	49	c.108 others(68): Show c.1089-2127_1089-2126insAGGTGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCC	USP13	ENSG00000058056.10	transcript	ENST00000263966.8	protein_coding	8/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
USP46_chr4_52585960_52664301	52632985	A A	AAAGAAAG others(42): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01069.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0062 a0001c0001t0001g0045 a0001c0001t0001g0062	2	192	0.0104	49	c.37- others(64): Show c.37-1842_37-1841insCTTTCTTTCTTTTCTTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTT	USP46	ENSG00000109189.13	transcript	ENST00000441222.8	protein_coding	1/8			chr4	TogoVar
USP8_chr15_50419405_50519421	50441604	G G	GCATGATC others(42): Show GCATGATCTCATGTAGATAGAAAAAGGGAACTAAAGATACAGTGTTATTA	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0209 a0001c0001t0209	a0001c0001t0209g0362 a0001c0001t0209g0362	1	382	0.0026	49	c.249 others(64): Show c.249+112_249+160dupCATGATCTCATGTAGATAGAAAAAGGGAAC TAAAGATACAGTGTTATTA	USP8	ENSG00000138592.14	transcript	ENST00000307179.9	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr15	TogoVar
UTP18_chr17_51255546_51302933	51265562	C C	CTTTTTTT others(42): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0252 a0001c0002t0001g0252	1	366	0.0027	49	c.456 others(64): Show c.456-599_456-598insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTT	UTP18	ENSG00000011260.14	transcript	ENST00000225298.12	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
VAV1_chr19_6767708_6862361	6814671	C C	CCTTCCTT others(42): Show CCTTCCTTCCTTCCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTCTTT	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	306	0.0033	49	c.205 others(66): Show c.205-6028_205-6027insCCTTCCTTCCTTTCTCTCTCTCTCTCTC TCTCTCTCTCTCTTCTTTCTT	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
VCL_chr10_73993116_74125169	74105914	T T	TTTTTAGT others(42): Show TTTTTAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAACCTCTGCGC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01433.hp2 HG02257.hp1 others(15): Show HG00642.hp1 HG01433.hp2 HG02257.hp1 HG02486.hp1 HG02486.hp2 HG02615.hp2 HG02723.hp1 HG02723.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03471.hp1 HG03486.hp2 HG06807.hp2 NA19043.hp1	a0001 a0008 a0001 a0008	a0001c0004 a0001c0009 a0008c0019 a0001c0004 a0001c0009 a0008c0019	a0001c0004t0002 a0001c0004t0008 a0001c0009t0002 others(1): Show a0001c0004t0002 a0001c0004t0008 a0001c0009t0002 a0008c0019t0002	a0001c0004t0002g0052 a0001c0004t0002g0058 a0001c0004t0002g0062 others(15): Show a0001c0004t0002g0052 a0001c0004t0002g0058 a0001c0004t0002g0062 a0001c0004t0002g0081 a0001c0004t0002g0082 a0001c0004t0002g0086 a0001c0004t0002g0093 a0001c0004t0002g0123 a0001c0004t0002g0183 a0001c0004t0002g0186 a0001c0004t0002g0262 a0001c0004t0008g0012 a0001c0009t0002g0013 a0001c0009t0002g0040 a0001c0009t0002g0113 a0001c0009t0002g0118 a0001c0009t0002g0181 a0008c0019t0002g0094	18	264	0.0682	49	c.243 others(66): Show c.2434+565_2434+566insAGTGCTGGGATTACAGGTGTGAGCCACC GTGCCCAACCTCTGCGCTTTT	VCL	ENSG00000035403.18	transcript	ENST00000211998.10	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
VCX2_chrX_8164944_8176267	8169349	C C	CAACACCT others(42): Show CAACACCTCTTCCACCCTCCCTCCCACCCCACACACCACCTCTTCCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0023 a0023	a0023c0024 a0023c0024	a0023c0024t0009 a0023c0024t0009	a0023c0024t0009g0029 a0023c0024t0009g0029	1	115	0.0087	49	c.68 others(58): Show c.682_*683insAGGGGGAAGAGGTGGTGTGTGGGGTGGGAGGGAGGG TGGAAGAGGTGTT	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		594		chrX	TogoVar
VEGFB_chr11_64229584_64244264	64237126	G G	GAGAGAGA others(42): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGACAGAGACAGACAGAGACAGACA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18980.hp2 NA18984.hp2 others(1): Show NA18964.hp1 NA18980.hp2 NA18984.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0028 a0001c0001t0001g0165 a0001c0001t0001g0169	4	328	0.0122	49	c.375 others(62): Show c.375-61_375-60insAGAGAGAGAGAGAGAGAGAGAGAGAGACAGAG ACAGACAGAGACAGACA	VEGFB	ENSG00000173511.10	transcript	ENST00000309422.7	protein_coding	4/6			chr11	TogoVar
VNN2_chr6_132738870_132762904	132758039	C C	CTTCTTCT others(42): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0065 a0002c0004t0001g0065	1	436	0.0023	49	c.-15 others(58): Show c.-157_-156insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAA	VNN2	ENSG00000112303.14	transcript	ENST00000326499.11	protein_coding		136		chr6	TogoVar
VPS53_chr17_503668_719839	548344	T T	TGACTACA others(42): Show TGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAATATCCAAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03225.hp2 HG02818.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0096 a0001c0001t0098 a0001c0001t0096 a0001c0001t0098	a0001c0001t0096g0146 a0001c0001t0098g0147 a0001c0001t0096g0146 a0001c0001t0098g0147	2	232	0.0086	49	c.186 others(68): Show c.1866+3527_1866+3528insGTTGGATATTTCCAGAAGGACTGTTG GCTGGCCAAAGTGGAGTGTAGTC	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS53_chr17_503668_719839	548435	T T	TATCCAAC others(42): Show TATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATC	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0016 a0003c0004t0006g0016	1	232	0.0043	49	c.186 others(68): Show c.1866+3388_1866+3436dupGATTCCAGAAGGACTGTTGGCTGGCC AAAGTGGAGTGTAGTCGTTGGAT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS53_chr17_503668_719839	548484	C C	CATCCAAT others(42): Show CATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAAT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG03491.hp1 HG03492.hp1 others(1): Show HG01981.hp2 HG03491.hp1 HG03492.hp1 HG04199.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0003 a0001c0006 a0002c0003	a0001c0006t0021 a0001c0006t0040 a0002c0003t0145 a0001c0006t0021 a0001c0006t0040 a0002c0003t0145	a0001c0006t0021g0100 a0001c0006t0021g0101 a0001c0006t0040g0002 others(1): Show a0001c0006t0021g0100 a0001c0006t0021g0101 a0001c0006t0040g0002 a0002c0003t0145g0187	4	232	0.0172	49	c.186 others(68): Show c.1866+3387_1866+3388insATTTCCAGAAGGACTGTTGGCTGGCC AAAGTGGAGTGTAGTCATTGGAT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS53_chr17_503668_719839	548533	C C	CATCCAAC others(42): Show CATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG04204.hp2 others(1): Show HG00280.hp1 HG00323.hp1 HG04204.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0146 a0001c0002t0001 a0002c0003t0146	a0001c0002t0001g0066 a0001c0002t0001g0079 a0001c0002t0001g0080 others(1): Show a0001c0002t0001g0066 a0001c0002t0001g0079 a0001c0002t0001g0080 a0002c0003t0146g0170	4	232	0.0172	49	c.186 others(68): Show c.1866+3290_1866+3338dupATTTCCAGAAGGACTGTTGGCTGGCC AAAGTGGAGTGTAGTCGTTGGAT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS53_chr17_503668_719839	548582	T T	TATCCAAC others(42): Show TATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02723.hp1 HG03516.hp1 others(1): Show HG02622.hp1 HG02723.hp1 HG03516.hp1 HG04204.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0015 a0007c0013 a0001c0001 a0001c0015 a0007c0013	a0001c0001t0028 a0001c0001t0084 a0001c0015t0126 others(1): Show a0001c0001t0028 a0001c0001t0084 a0001c0015t0126 a0007c0013t0132	a0001c0001t0028g0197 a0001c0001t0084g0046 a0001c0015t0126g0149 others(1): Show a0001c0001t0028g0197 a0001c0001t0084g0046 a0001c0015t0126g0149 a0007c0013t0132g0163	4	232	0.0172	49	c.186 others(68): Show c.1866+3289_1866+3290insGATTCCAGAAGGACTGTTGGCTGGCC AAAGTGGAGTGTAGTCGTTGGAT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS53_chr17_503668_719839	548589	C C	CGACTACA others(42): Show CGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCATCCAAT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0037 a0002c0003t0037	a0002c0003t0037g0115 a0002c0003t0037g0115	1	232	0.0043	49	c.186 others(68): Show c.1866+3282_1866+3283insATTGGATGATTCCAGAAGGACTGTTG GCTGGCCAAAGTGGAGTGTAGTC	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS53_chr17_503668_719839	548621	C C	CTTCTGGA others(42): Show CTTCTGGAAATATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG03688.hp2 HG01515.hp1 HG01517.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0007t0011 a0001c0001t0002 a0001c0007t0011	a0001c0001t0002g0213 a0001c0007t0011g0105 a0001c0007t0011g0106 a0001c0001t0002g0213 a0001c0007t0011g0105 a0001c0007t0011g0106	3	232	0.0129	49	c.186 others(68): Show c.1866+3250_1866+3251insTGACTGTTGGCTGGCCAAAGTGGAGT GTAGTCGTTGGATATTTCCAGAA	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS53_chr17_503668_719839	548621	C C	CTTCTGGA others(42): Show CTTCTGGAATCATCCAACGACTACACTCCACTTTGGCCAGCCAGCAGTCA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0039 a0001c0006t0039	a0001c0006t0039g0003 a0001c0006t0039g0003	1	232	0.0043	49	c.186 others(68): Show c.1866+3250_1866+3251insTGACTGCTGGCTGGCCAAAGTGGAGT GTAGTCGTTGGATGATTCCAGAA	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS53_chr17_503668_719839	618957	T T	TGGGTAGC others(42): Show TGGGTAGCTGGACTACACGTGTGCACCACCACGCCTGCTAATATTTCTCC	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0037 a0002c0003t0037	a0002c0003t0037g0115 a0002c0003t0037g0115	1	232	0.0043	49	c.111 others(68): Show c.1116+4575_1116+4576insGGAGAAATATTAGCAGGCGTGGTGGT GCACACGTGTAGTCCAGCTACCC	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	11/21			chr17	TogoVar
VPS53_chr17_503668_719839	618957	T T	TGGGTAGC others(42): Show TGGGTAGCTGGGACTACACGTGTGCACCACCACGCCTGCTAATATTTCCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(49): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00621.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01167.hp1 HG01346.hp1 HG01516.hp1 HG01928.hp1 HG01981.hp1 HG02040.hp1 HG02056.hp1 HG02074.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02738.hp2 HG03491.hp2 HG03831.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp1 NA18612.hp1 NA18944.hp2 NA18946.hp1 NA18955.hp1 NA18957.hp2 NA18973.hp2 NA18979.hp2 NA18983.hp1 NA18987.hp1 NA18990.hp2 NA19000.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19080.hp2 NA19084.hp2 NA19090.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0002 a0002c0003 a0004c0008 others(1): Show a0001c0002 a0002c0003 a0004c0008 a0005c0009	a0001c0002t0017 a0001c0002t0035 a0001c0002t0038 others(40): Show a0001c0002t0017 a0001c0002t0035 a0001c0002t0038 a0001c0002t0050 a0001c0002t0086 a0001c0002t0100 a0001c0002t0109 a0001c0002t0125 a0001c0002t0143 a0001c0002t0149 a0002c0003t0008 a0002c0003t0009 a0002c0003t0017 a0002c0003t0018 a0002c0003t0027 a0002c0003t0036 a0002c0003t0037 a0002c0003t0085 a0002c0003t0089 a0002c0003t0090 a0002c0003t0091 a0002c0003t0092 a0002c0003t0093 a0002c0003t0099 a0002c0003t0104 a0002c0003t0131 a0002c0003t0136 a0002c0003t0139 a0002c0003t0140 a0002c0003t0144 a0002c0003t0145 a0002c0003t0146 a0002c0003t0148 a0002c0003t0150 a0004c0008t0035 a0004c0008t0036 a0004c0008t0103 a0004c0008t0124 a0004c0008t0133 a0004c0008t0142 a0005c0009t0130 a0005c0009t0137 a0005c0009t0147	a0001c0002t0017g0225 a0001c0002t0035g0219 a0001c0002t0038g0224 others(49): Show a0001c0002t0017g0225 a0001c0002t0035g0219 a0001c0002t0038g0224 a0001c0002t0050g0049 a0001c0002t0086g0221 a0001c0002t0100g0223 a0001c0002t0109g0222 a0001c0002t0125g0116 a0001c0002t0143g0226 a0001c0002t0149g0202 a0002c0003t0008g0180 a0002c0003t0008g0182 a0002c0003t0008g0183 a0002c0003t0008g0217 a0002c0003t0009g0185 a0002c0003t0009g0186 a0002c0003t0009g0188 a0002c0003t0009g0218 a0002c0003t0017g0179 a0002c0003t0018g0172 a0002c0003t0018g0214 a0002c0003t0018g0231 a0002c0003t0027g0169 a0002c0003t0027g0181 a0002c0003t0036g0176 a0002c0003t0037g0168 a0002c0003t0085g0184 a0002c0003t0089g0175 a0002c0003t0090g0171 a0002c0003t0091g0209 a0002c0003t0092g0190 a0002c0003t0093g0173 a0002c0003t0099g0192 a0002c0003t0104g0208 a0002c0003t0131g0193 a0002c0003t0136g0216 a0002c0003t0139g0167 a0002c0003t0140g0194 a0002c0003t0144g0215 a0002c0003t0145g0187 a0002c0003t0146g0170 a0002c0003t0148g0174 a0002c0003t0150g0191 a0004c0008t0035g0203 a0004c0008t0036g0207 a0004c0008t0103g0227 a0004c0008t0124g0229 a0004c0008t0133g0232 a0004c0008t0142g0228 a0005c0009t0130g0178 a0005c0009t0137g0189 a0005c0009t0147g0177	52	232	0.2241	49	c.111 others(68): Show c.1116+4527_1116+4575dupGGGAAATATTAGCAGGCGTGGTGGTG CACACGTGTAGTCCCAGCTACCC	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	11/21			chr17	TogoVar
VPS53_chr17_503668_719839	619666	G G	GTGCCCAC others(42): Show GTGCCCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCA	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0037 a0002c0003t0037	a0002c0003t0037g0115 a0002c0003t0037g0115	1	232	0.0043	49	c.111 others(68): Show c.1116+3866_1116+3867insTGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGTGTGGTGGGCA	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	11/21			chr17	TogoVar
VWA8_chr13_41561835_41966109	41758483	G G	GTATATAT others(42): Show GTATATATATTCCATATATATGGAATATATGGAATATATATATGCCAGTA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0059 a0001c0001t0011g0059	1	250	0.0040	49	c.242 others(68): Show c.2426+2644_2426+2645insTACTGGCATATATATATTCCATATAT TCCATATATATGGAATATATATA	VWA8	ENSG00000102763.18	transcript	ENST00000379310.8	protein_coding	21/44			chr13	TogoVar

Search by Variant

Search

Search Results (Total: 2057 hits)