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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
UBTD1_chr10_97493924_97576206	97529719	TGAGAGGG others(18): Show TGAGAGGGAGACCGTGGAAAGAGAGG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00423.hp1 others(100): Show HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00544.hp1 HG00609.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01928.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02148.hp1 HG02257.hp1 HG02451.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02965.hp2 HG02976.hp1 HG03239.hp1 HG03453.hp1 HG03516.hp1 HG03540.hp1 HG03688.hp1 HG03831.hp1 HG03831.hp2 HG04184.hp2 HG04204.hp2 HG06807.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp2 NA18954.hp1 NA18957.hp2 NA18961.hp1 NA18966.hp2 NA18968.hp2 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18984.hp1 NA18985.hp2 NA18991.hp1 NA18992.hp2 NA18994.hp2 NA18998.hp2 NA18999.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19009.hp1 NA19054.hp1 NA19055.hp2 NA19056.hp2 NA19058.hp1 NA19060.hp2 NA19066.hp2 NA19067.hp2 NA19068.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19088.hp1 NA19090.hp2 NA20129.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(98): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0090 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0128 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0202 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0004g0222 a0001c0001t0005g0001 a0001c0001t0005g0236 a0001c0001t0005g0251 a0001c0001t0009g0149 a0001c0003t0001g0145	103	314	0.3280	-25	c.70+ others(42): Show c.70+30463_70+30487delAAAGAGAGGGAGAGGGAGACCGTGG	UBTD1	ENSG00000165886.5	transcript	ENST00000370664.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
UCHL3_chr13_75544791_75611020	75571976	CTGTCTTG others(18): Show CTGTCTTGTCTTGTCTTGTCTTGTCT	C C	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	326	0.0031	-25	c.474 others(42): Show c.474+2496_474+2520delGTCTTGTCTTGTCTTGTCTTGTCTT	UCHL3	ENSG00000118939.19	transcript	ENST00000377595.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UCP2_chr11_73969672_73987843	73986518	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG03130.hp2 HG03209.hp2 HG02486.hp2 HG03130.hp2 HG03209.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0010 a0002c0003t0008g0010	3	420	0.0071	-25	c.-40 others(36): Show c.-4079_-4055delAAAAAAAAAAAAAAAAAAAAAAAAA	UCP2	ENSG00000175567.11	transcript	ENST00000663595.2	protein_coding		3676		chr11	TogoVar
UFSP1_chr7_100883721_100894715	100889736	GCCCCGCC others(18): Show GCCCCGCCCCTCCCCTCCCCTCCCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01515.hp1 HG01517.hp2 others(50): Show HG01168.hp1 HG01515.hp1 HG01517.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03239.hp2 HG03453.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03831.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18955.hp2 NA18969.hp1 NA19043.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0001 a0001c0001t0002 a0001c0001t0009	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0009g0000 a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0009g0000	53	406	0.1305	-25	c.-49 others(34): Show c.-490_-466delAGGGGAGGGGAGGGGAGGGGCGGGG	UFSP1	ENSG00000176125.7	transcript	ENST00000388761.4	protein_coding		22		chr7	TogoVar
UGGT1_chr2_128086200_128200677	128131609	GTTGTGTT others(18): Show GTTGTGTTGTGTTGCATTGTGTTGCA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03195.hp2 HG02486.hp1 HG03195.hp2	a0001 a0013 a0001 a0013	a0001c0004 a0013c0022 a0001c0004 a0013c0022	a0001c0004t0063 a0013c0022t0048 a0001c0004t0063 a0013c0022t0048	a0001c0004t0063g0157 a0013c0022t0048g0135 a0001c0004t0063g0157 a0013c0022t0048g0135	2	332	0.0060	-25	c.137 others(44): Show c.1378-1528_1378-1504delTGTTGTGTTGCATTGTGTTGCATTG	UGGT1	ENSG00000136731.13	transcript	ENST00000259253.11	protein_coding	13/40		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGGT1_chr2_128086200_128200677	128169048	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0199 a0001c0003t0002g0199	1	332	0.0030	-25	c.292 others(44): Show c.2922-1221_2922-1197delAAAAAAAAAAAAAAAAAAAAAAAAA	UGGT1	ENSG00000136731.13	transcript	ENST00000259253.11	protein_coding	26/40		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT2B4_chr4_69475165_69500905	69500648	AGAAAGAA others(18): Show AGAAAGAAAGAAAGAAAGAAAGGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01928.hp1 others(8): Show HG01256.hp2 HG01258.hp2 HG01928.hp1 HG01993.hp1 HG02055.hp1 HG02257.hp2 HG02451.hp1 HG02602.hp1 HG03239.hp2 NA18969.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0053 others(5): Show a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0053 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0041 a0001c0001t0002g0045 a0001c0001t0002g0112	11	436	0.0252	-25	c.-48 others(36): Show c.-4812_-4788delCTTCCTTTCTTTCTTTCTTTCTTTC	UGT2B4	ENSG00000156096.15	transcript	ENST00000305107.7	protein_coding		4744		chr4	TogoVar
UHRF2_chr9_6408199_6512054	6488251	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01496.hp1 NA18942.hp1 others(2): Show HG01243.hp2 HG01496.hp1 NA18942.hp1 NA18965.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0247 a0001c0001t0001g0279 others(2): Show a0001c0001t0001g0235 a0001c0001t0001g0247 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0314	5	318	0.0157	-25	c.149 others(44): Show c.1497+1358_1497+1382delAAAAAAAAAAAAAAAAAAAAAAAAA	UHRF2	ENSG00000147854.17	transcript	ENST00000276893.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
UIMC1_chr5_176900006_177011779	176911112	GAAGAAAA others(18): Show GAAGAAAAGAAAAGAAAAGAAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02109.hp2 HG03130.hp1 HG01243.hp1 HG02109.hp2 HG03130.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0023 a0003c0004t0001g0173 a0003c0004t0001g0185 a0003c0004t0001g0023 a0003c0004t0001g0173 a0003c0004t0001g0185	3	330	0.0091	-25	c.167 others(42): Show c.1676+174_1676+198delTTCTTTTCTTTTCTTTTCTTTTCTT	UIMC1	ENSG00000087206.17	transcript	ENST00000511320.6	protein_coding	11/14			chr5	TogoVar
ULK1_chr12_131889622_131928150	131927041	CAGAGGGA others(18): Show CAGAGGGAGACCGTGGAAAGAGAGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 NA18522.hp1 HG02970.hp2 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0013 a0001c0003 a0001c0013	a0001c0003t0013 a0001c0013t0013 a0001c0003t0013 a0001c0013t0013	a0001c0003t0013g0308 a0001c0013t0013g0309 a0001c0003t0013g0308 a0001c0013t0013g0309	2	344	0.0058	-25	c.56 others(36): Show c.5681_*5705delAGAGGGAGACCGTGGAAAGAGAGGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding		3892		chr12	TogoVar
ULK4_chr3_41241599_41967103	41864346	CTGTTTTG others(18): Show CTGTTTTGTTTTGTTTTGTTTTGTTT	C C	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01515.hp1 HG02258.hp1 others(4): Show HG01169.hp2 HG01515.hp1 HG02258.hp1 HG02451.hp2 HG03209.hp1 HG03486.hp1 HG04184.hp2	a0002 a0012 a0002 a0012	a0002c0003 a0002c0016 a0012c0017 a0002c0003 a0002c0016 a0012c0017	a0002c0003t0001 a0002c0003t0006 a0002c0016t0001 others(1): Show a0002c0003t0001 a0002c0003t0006 a0002c0016t0001 a0012c0017t0001	a0002c0003t0001g0059 a0002c0003t0001g0060 a0002c0003t0001g0061 others(4): Show a0002c0003t0001g0059 a0002c0003t0001g0060 a0002c0003t0001g0061 a0002c0003t0001g0062 a0002c0003t0006g0058 a0002c0016t0001g0057 a0012c0017t0001g0022	7	72	0.0972	-25	c.165 others(46): Show c.1656+19503_1656+19527delAAACAAAACAAAACAAAACAAAAC A	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	17/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41935209	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00735.hp2 HG01071.hp1 others(39): Show HG00621.hp1 HG00735.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01169.hp1 HG01243.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG02145.hp2 HG02165.hp1 HG02257.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02735.hp1 HG02735.hp2 HG02895.hp1 HG02896.hp1 HG02970.hp1 HG02970.hp2 HG03209.hp2 HG03486.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA19043.hp1 NA19043.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(9): Show a0001 a0003 a0005 a0007 a0011 a0015 a0016 a0017 a0018 a0019 a0020 a0021	a0001c0001 a0003c0002 a0005c0006 others(9): Show a0001c0001 a0003c0002 a0005c0006 a0007c0007 a0011c0018 a0015c0015 a0016c0021 a0017c0019 a0018c0020 a0019c0022 a0020c0023 a0021c0024	a0001c0001t0001 a0001c0001t0003 a0003c0002t0001 others(10): Show a0001c0001t0001 a0001c0001t0003 a0003c0002t0001 a0005c0006t0004 a0007c0007t0001 a0011c0018t0001 a0015c0015t0001 a0016c0021t0001 a0017c0019t0003 a0018c0020t0001 a0019c0022t0001 a0020c0023t0001 a0021c0024t0001	a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0030 others(39): Show a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0072 a0003c0002t0001g0006 a0005c0006t0004g0001 a0005c0006t0004g0002 a0005c0006t0004g0003 a0007c0007t0001g0023 a0007c0007t0001g0025 a0007c0007t0001g0034 a0011c0018t0001g0050 a0015c0015t0001g0005 a0016c0021t0001g0045 a0017c0019t0003g0071 a0018c0020t0001g0037 a0019c0022t0001g0029 a0020c0023t0001g0024 a0021c0024t0001g0027	42	72	0.5833	-25	c.378 others(40): Show c.378+567_378+591delAAAAAAAAAAAAAAAAAAAAAAAAA	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	4/36			chr3	TogoVar
UMAD1_chr7_7635752_7884223	7847101	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA19000.hp1 HG02056.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0083 a0001c0001t0003 a0001c0001t0083	a0001c0001t0003g0107 a0001c0001t0083g0132 a0001c0001t0003g0107 a0001c0001t0083g0132	2	250	0.0080	-25	c.157 others(44): Show c.157-30178_157-30154delAAATATATATATATATATATATATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7847103	AAATATAT others(18): Show AAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01891.hp1 HG02630.hp2 others(1): Show HG01255.hp2 HG01891.hp1 HG02630.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0020 others(1): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0020 a0001c0001t0048	a0001c0001t0001g0103 a0001c0001t0013g0124 a0001c0001t0020g0156 others(1): Show a0001c0001t0001g0103 a0001c0001t0013g0124 a0001c0001t0020g0156 a0001c0001t0048g0186	4	250	0.0160	-25	c.157 others(44): Show c.157-30176_157-30152delATATATATATATATATATATATATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMODL1_chr21_42066317_42147996	42133897	TGTTTTGT others(18): Show TGTTTTGTTTTGTTTTGTTTTGTTTC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG00609.hp1 others(46): Show HG00597.hp1 HG00597.hp2 HG00609.hp1 HG01257.hp1 HG01358.hp2 HG01884.hp1 HG01975.hp1 HG02074.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02300.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG03471.hp1 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18949.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18962.hp1 NA18966.hp2 NA18967.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18989.hp2 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19060.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20300.hp1	a0002 a0006 a0009 others(18): Show a0002 a0006 a0009 a0015 a0019 a0020 a0022 a0025 a0033 a0035 a0043 a0048 a0050 a0066 a0067 a0069 a0089 a0095 a0098 a0113 a0125	a0002c0202 a0006c0007 a0006c0038 others(25): Show a0002c0202 a0006c0007 a0006c0038 a0006c0078 a0009c0018 a0009c0027 a0009c0110 a0015c0010 a0019c0016 a0020c0021 a0020c0195 a0022c0081 a0025c0029 a0033c0088 a0033c0103 a0033c0105 a0035c0035 a0043c0116 a0048c0056 a0050c0154 a0066c0084 a0067c0085 a0069c0082 a0089c0175 a0095c0090 a0098c0104 a0113c0197 a0125c0144	a0002c0202t0004 a0006c0007t0004 a0006c0007t0018 others(31): Show a0002c0202t0004 a0006c0007t0004 a0006c0007t0018 a0006c0038t0001 a0006c0038t0038 a0006c0078t0004 a0009c0018t0004 a0009c0018t0018 a0009c0018t0019 a0009c0027t0001 a0009c0027t0003 a0009c0110t0004 a0015c0010t0002 a0019c0016t0004 a0019c0016t0014 a0020c0021t0004 a0020c0195t0004 a0022c0081t0004 a0025c0029t0001 a0033c0088t0004 a0033c0103t0004 a0033c0105t0001 a0035c0035t0003 a0043c0116t0001 a0048c0056t0041 a0050c0154t0001 a0066c0084t0002 a0067c0085t0004 a0069c0082t0019 a0089c0175t0002 a0095c0090t0016 a0098c0104t0002 a0113c0197t0004 a0125c0144t0025	a0002c0202t0004g0055 a0006c0007t0004g0045 a0006c0007t0004g0172 others(45): Show a0002c0202t0004g0055 a0006c0007t0004g0045 a0006c0007t0004g0172 a0006c0007t0004g0203 a0006c0007t0004g0250 a0006c0007t0004g0251 a0006c0007t0004g0253 a0006c0007t0018g0168 a0006c0038t0001g0237 a0006c0038t0038g0064 a0006c0078t0004g0316 a0009c0018t0004g0344 a0009c0018t0004g0347 a0009c0018t0018g0291 a0009c0018t0019g0294 a0009c0027t0001g0113 a0009c0027t0001g0286 a0009c0027t0003g0175 a0009c0110t0004g0312 a0015c0010t0002g0236 a0019c0016t0004g0157 a0019c0016t0004g0178 a0019c0016t0004g0201 a0019c0016t0014g0159 a0019c0016t0014g0160 a0020c0021t0004g0169 a0020c0021t0004g0208 a0020c0021t0004g0359 a0020c0021t0004g0360 a0020c0195t0004g0195 a0022c0081t0004g0039 a0025c0029t0001g0004 a0025c0029t0001g0278 a0033c0088t0004g0233 a0033c0103t0004g0145 a0033c0105t0001g0050 a0035c0035t0003g0065 a0043c0116t0001g0152 a0048c0056t0041g0365 a0050c0154t0001g0376 a0066c0084t0002g0232 a0067c0085t0004g0247 a0069c0082t0019g0330 a0089c0175t0002g0192 a0095c0090t0016g0112 a0098c0104t0002g0246 a0113c0197t0004g0193 a0125c0144t0025g0156	49	400	0.1225	-25	c.377 others(44): Show c.3776-3527_3776-3503delTGTTTTGTTTCGTTTTGTTTTGTTT	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UMPS_chr3_124725452_124754273	124726844	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0004 a0001c0001t0013g0004	2	434	0.0046	-25	c.-36 others(36): Show c.-3627_-3603delAAAAAAAAAAAAAAAAAAAAAAAAA	UMPS	ENSG00000114491.14	transcript	ENST00000232607.7	protein_coding		3607		chr3	TogoVar
UNC13B_chr9_35157009_35410335	35257307	AAATATAA others(18): Show AAATATAAATATTTATAAAAATATTT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03209.hp1 HG03471.hp1 others(1): Show HG02109.hp2 HG03209.hp1 HG03471.hp1 NA18906.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0015 a0001c0007t0001g0181 a0001c0007t0001g0182 others(1): Show a0001c0007t0001g0015 a0001c0007t0001g0181 a0001c0007t0001g0182 a0001c0007t0001g0183	4	224	0.0179	-25	c.469 others(42): Show c.469-1684_469-1660delATATAAATATTTATAAAAATATTTA	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	6/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13C_chr15_53973441_54633605	54470311	TAGAATAT others(18): Show TAGAATATGTATTAGTTCTTCTTGAA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00639.hp1 others(67): Show HG00423.hp1 HG00423.hp2 HG00639.hp1 HG00735.hp1 HG01123.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01993.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02148.hp1 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02300.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03579.hp2 HG03927.hp1 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18947.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp2 NA18964.hp2 NA18979.hp1 NA18979.hp2 NA18989.hp1 NA18991.hp2 NA18993.hp2 NA19030.hp1 NA19081.hp1 NA20129.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0011 a0014 a0015	a0001c0001 a0001c0002 a0001c0003 others(18): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0021 a0001c0034 a0001c0035 a0001c0040 a0001c0041 a0002c0016 a0002c0019 a0003c0037 a0003c0038 a0004c0009 a0004c0026 a0005c0011 a0011c0039 a0014c0025 a0015c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(53): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0025 a0001c0001t0030 a0001c0001t0037 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0022 a0001c0002t0023 a0001c0002t0024 a0001c0002t0051 a0001c0002t0060 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0009 a0001c0003t0010 a0001c0003t0021 a0001c0003t0039 a0001c0003t0050 a0001c0003t0053 a0001c0004t0018 a0001c0004t0028 a0001c0004t0052 a0001c0004t0055 a0001c0006t0027 a0001c0006t0049 a0001c0007t0001 a0001c0007t0012 a0001c0007t0016 a0001c0021t0013 a0001c0034t0058 a0001c0035t0001 a0001c0040t0026 a0001c0041t0025 a0002c0016t0004 a0002c0019t0031 a0002c0019t0054 a0003c0037t0008 a0003c0038t0011 a0004c0009t0005 a0004c0026t0001 a0005c0011t0003 a0011c0039t0001 a0014c0025t0018 a0015c0024t0028	a0001c0001t0001g0003 a0001c0001t0002g0067 a0001c0001t0002g0102 others(67): Show a0001c0001t0001g0003 a0001c0001t0002g0067 a0001c0001t0002g0102 a0001c0001t0006g0137 a0001c0001t0007g0016 a0001c0001t0011g0077 a0001c0001t0011g0150 a0001c0001t0012g0056 a0001c0001t0014g0084 a0001c0001t0016g0115 a0001c0001t0018g0033 a0001c0001t0019g0025 a0001c0001t0019g0042 a0001c0001t0025g0004 a0001c0001t0030g0142 a0001c0001t0037g0158 a0001c0002t0001g0005 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0034 a0001c0002t0002g0082 a0001c0002t0005g0126 a0001c0002t0022g0092 a0001c0002t0023g0064 a0001c0002t0024g0116 a0001c0002t0051g0157 a0001c0002t0060g0146 a0001c0003t0001g0019 a0001c0003t0003g0065 a0001c0003t0004g0011 a0001c0003t0005g0120 a0001c0003t0005g0128 a0001c0003t0009g0110 a0001c0003t0009g0114 a0001c0003t0009g0119 a0001c0003t0010g0009 a0001c0003t0010g0023 a0001c0003t0010g0026 a0001c0003t0021g0155 a0001c0003t0039g0101 a0001c0003t0050g0012 a0001c0003t0053g0058 a0001c0004t0018g0096 a0001c0004t0028g0148 a0001c0004t0052g0036 a0001c0004t0055g0095 a0001c0006t0027g0050 a0001c0006t0027g0052 a0001c0006t0049g0108 a0001c0007t0001g0029 a0001c0007t0012g0154 a0001c0007t0016g0135 a0001c0021t0013g0038 a0001c0021t0013g0039 a0001c0034t0058g0149 a0001c0035t0001g0001 a0001c0040t0026g0027 a0001c0041t0025g0156 a0002c0016t0004g0053 a0002c0019t0031g0071 a0002c0019t0054g0059 a0003c0037t0008g0094 a0003c0038t0011g0002 a0004c0009t0005g0132 a0004c0026t0001g0022 a0005c0011t0003g0073 a0005c0011t0003g0078 a0011c0039t0001g0037 a0014c0025t0018g0030 a0015c0024t0028g0017	70	158	0.4430	-25	c.493 others(46): Show c.4934-24295_4934-24271delGAATATGTATTAGTTCTTCTTGAA A	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54552401	TATATAAT others(18): Show TATATAATTATATATTACAATATATA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00738.hp1 HG01515.hp2 others(9): Show HG00735.hp2 HG00738.hp1 HG01515.hp2 HG02129.hp1 HG02132.hp2 HG02486.hp2 HG03492.hp1 HG03654.hp2 NA18979.hp2 NA18991.hp2 NA19064.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0006 a0001c0001t0041 others(7): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0041 a0001c0002t0005 a0001c0002t0006 a0001c0002t0009 a0001c0002t0013 a0001c0002t0023 a0001c0006t0027 a0001c0006t0049	a0001c0001t0001g0013 a0001c0001t0001g0044 a0001c0001t0006g0122 others(9): Show a0001c0001t0001g0013 a0001c0001t0001g0044 a0001c0001t0006g0122 a0001c0001t0041g0118 a0001c0002t0005g0123 a0001c0002t0006g0112 a0001c0002t0009g0134 a0001c0002t0013g0014 a0001c0002t0023g0098 a0001c0006t0027g0050 a0001c0006t0027g0052 a0001c0006t0049g0108	12	158	0.0760	-25	c.587 others(44): Show c.5877+2777_5877+2801delCAATATATAATATAATTATATATTA	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	28/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC5A_chr5_176805559_176885898	176829159	TGGATGGA others(18): Show TGGATGGATGGATGGATGGATGGATG	T T	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0087	1	268	0.0037	-25	c.70+ others(42): Show c.70+18341_70+18365delGATGGATGGATGGATGGATGGATGG	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC93B1_chr11_67986100_68009097	67987215	GTAAAATA others(18): Show GTAAAATAAAATAAAATAAAATAAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0006 a0001c0004t0001g0006	1	370	0.0027	-25	c.43 others(36): Show c.4306_*4330delTTTTATTTTATTTTATTTTATTTTA	UNC93B1	ENSG00000110057.9	transcript	ENST00000227471.7	protein_coding		3884		chr11	TogoVar
UNCX_chr7_1227872_1242326	1230247	GAGGGCGT others(18): Show GAGGGCGTGGGGGAGGGGCGCGGGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	406	0.0025	-25	c.-27 others(36): Show c.-2770_-2746delAGGGCGTGGGGGAGGGGCGCGGGGA	UNCX	ENSG00000164853.9	transcript	ENST00000316333.9	protein_coding		2624		chr7	TogoVar
UPF1_chr19_18826959_18873230	18827835	GTATACAG others(18): Show GTATACAGGAAATAAGAAGAGATCTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	394	0.0025	-25	c.-43 others(36): Show c.-4374_-4350delTATACAGGAAATAAGAAGAGATCTT	UPF1	ENSG00000005007.14	transcript	ENST00000262803.10	protein_coding		4123		chr19	TogoVar
UPP2_chr2_158096876_158141154	158104979	AGAGAAGG others(18): Show AGAGAAGGGAAGGGAAGGGAGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0079 a0002c0002t0012g0079	1	342	0.0029	-25	c.63- others(40): Show c.63-1118_63-1094delAGAAGGGAAGGGAAGGGAGGGGAGG	UPP2	ENSG00000007001.13	transcript	ENST00000005756.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
UPP2_chr2_158096876_158141154	158104989	AGGGAAGG others(18): Show AGGGAAGGGAGGGGAGGGGAGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG02818.hp2 HG01517.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0201 a0001c0001t0001g0014 a0001c0001t0001g0201	2	342	0.0059	-25	c.63- others(40): Show c.63-1105_63-1081delAGGGAGGGGAGGGGAGGGGAGGGGA	UPP2	ENSG00000007001.13	transcript	ENST00000005756.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
UQCC1_chr20_35297578_35416973	35404680	TGACTCTG others(18): Show TGACTCTGAAAAAAAAAAAAAAAAAG	T T	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0102 a0002c0002t0001g0102	1	256	0.0039	-25	c.24+ others(40): Show c.24+7235_24+7259delCTTTTTTTTTTTTTTTTTCAGAGTC	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	1/9			chr20	TogoVar
URGCP_chr7_43870913_43911596	43883338	ATATATAT others(18): Show ATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0137 a0001c0007t0004g0137	1	404	0.0025	-25	c.113 others(42): Show c.113-1406_113-1382delATATATATATATATATATATATATA	URGCP	ENSG00000106608.17	transcript	ENST00000453200.6	protein_coding	3/5			chr7	TogoVar
URI1_chr19_29937239_30021612	29985119	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03471.hp2 HG03516.hp2 others(5): Show HG03209.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp1 NA18939.hp2 NA18986.hp2 NA19005.hp2 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0004 a0003c0003t0001 a0001c0001t0001 a0002c0002t0004 a0003c0003t0001	a0001c0001t0001g0052 a0001c0001t0001g0071 a0001c0001t0001g0187 others(5): Show a0001c0001t0001g0052 a0001c0001t0001g0071 a0001c0001t0001g0187 a0002c0002t0004g0020 a0003c0003t0001g0038 a0003c0003t0001g0039 a0003c0003t0001g0041 a0003c0003t0001g0045	8	328	0.0244	-25	c.153 others(38): Show c.153-70_153-46delAAAAAAAAAAAAAAAAAAAAAAAAA	URI1	ENSG00000105176.18	transcript	ENST00000392271.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
USHBP1_chr19_17244171_17269745	17267166	CACGGTAG others(18): Show CACGGTAGAAGCACTGACTATTGTAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0209 a0001c0004t0002g0209	1	412	0.0024	-25	c.-25 others(36): Show c.-2569_-2545delCTACAATAGTCAGTGCTTCTACCGT	USHBP1	ENSG00000130307.12	transcript	ENST00000252597.8	protein_coding		2422		chr19	TogoVar
USP10_chr16_84695000_84784922	84697684	TATATATA others(18): Show TATATATATATATATATATATATATG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01433.hp1 HG01891.hp1 others(7): Show HG01109.hp1 HG01433.hp1 HG01891.hp1 HG02109.hp2 HG02922.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG06807.hp2 NA19001.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0007 a0001c0021 others(2): Show a0001c0002 a0001c0007 a0001c0021 a0002c0004 a0003c0003	a0001c0002t0001 a0001c0007t0001 a0001c0007t0004 others(3): Show a0001c0002t0001 a0001c0007t0001 a0001c0007t0004 a0001c0021t0004 a0002c0004t0007 a0003c0003t0003	a0001c0002t0001g0318 a0001c0007t0001g0036 a0001c0007t0001g0037 others(7): Show a0001c0002t0001g0318 a0001c0007t0001g0036 a0001c0007t0001g0037 a0001c0007t0001g0038 a0001c0007t0004g0048 a0001c0007t0004g0055 a0001c0021t0004g0041 a0002c0004t0007g0047 a0002c0004t0007g0178 a0003c0003t0003g0017	10	430	0.0233	-25	c.-24 others(36): Show c.-2406_-2382delATATATATATATATATATATATATG	USP10	ENSG00000103194.16	transcript	ENST00000219473.12	protein_coding		2315		chr16	TogoVar
USP24_chr1_55061359_55220364	55187221	AAAATGTA others(18): Show AAAATGTAACACCATTCCATGATTTT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01243.hp1 HG02630.hp1 others(14): Show HG00323.hp2 HG01243.hp1 HG02630.hp1 HG02896.hp2 HG02970.hp2 HG03195.hp2 HG03209.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp2 NA18969.hp1 NA18974.hp2 NA18975.hp1 NA18995.hp1 NA19064.hp1 NA19084.hp2 NA19090.hp2	a0004 a0004	a0004c0006 a0004c0007 a0004c0006 a0004c0007	a0004c0006t0002 a0004c0007t0002 a0004c0007t0016 others(1): Show a0004c0006t0002 a0004c0007t0002 a0004c0007t0016 a0004c0007t0017	a0004c0006t0002g0143 a0004c0006t0002g0144 a0004c0006t0002g0145 others(14): Show a0004c0006t0002g0143 a0004c0006t0002g0144 a0004c0006t0002g0145 a0004c0006t0002g0146 a0004c0006t0002g0151 a0004c0006t0002g0152 a0004c0006t0002g0153 a0004c0006t0002g0154 a0004c0006t0002g0155 a0004c0006t0002g0156 a0004c0006t0002g0158 a0004c0007t0002g0147 a0004c0007t0002g0148 a0004c0007t0002g0149 a0004c0007t0002g0157 a0004c0007t0016g0187 a0004c0007t0017g0150	17	198	0.0859	-25	c.325 others(42): Show c.325-9114_325-9090delAAAATCATGGAATGGTGTTACATTT	USP24	ENSG00000162402.15	transcript	ENST00000294383.7	protein_coding	1/67			chr1	TogoVar
USP32_chr17_60172327_60397133	60349593	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03041.hp2 HG03195.hp1 others(2): Show HG02922.hp1 HG03041.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0040 others(2): Show a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0058 a0001c0001t0001g0060	5	152	0.0329	-25	c.59- others(40): Show c.59-4010_59-3986delATATATATATATATATATATATTTT	USP32	ENSG00000170832.13	transcript	ENST00000300896.9	protein_coding	1/33			chr17	TogoVar
USP32_chr17_60172327_60397133	60349595	AAATATAT others(18): Show AAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02451.hp1 HG01952.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0036 a0001c0002t0001g0149 a0001c0001t0001g0036 a0001c0002t0001g0149	2	152	0.0132	-25	c.59- others(40): Show c.59-4012_59-3988delATATATATATATATATATATATATT	USP32	ENSG00000170832.13	transcript	ENST00000300896.9	protein_coding	1/33			chr17	TogoVar
USP32_chr17_60172327_60397133	60349599	ATATATAT others(18): Show ATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01099.hp2 HG01884.hp1 others(6): Show HG00639.hp2 HG01099.hp2 HG01884.hp1 HG03041.hp1 HG03139.hp2 HG03209.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0034 others(6): Show a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0055	9	152	0.0592	-25	c.59- others(40): Show c.59-4016_59-3992delATATATATATATATATATATATATA	USP32	ENSG00000170832.13	transcript	ENST00000300896.9	protein_coding	1/33			chr17	TogoVar
USP34_chr2_61182463_61476087	61449789	CCGGCGCG others(18): Show CCGGCGCGGTGGCTCACGCCTGTAAT	C C	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0064 a0001c0002t0002g0064	1	312	0.0032	-25	c.43+ others(42): Show c.43+20836_43+20860delATTACAGGCGTGAGCCACCGCGCCG	USP34	ENSG00000115464.15	transcript	ENST00000398571.7	protein_coding	1/79			chr2	TogoVar
USP36_chr17_78790652_78845814	78821404	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02080.hp2 HG02135.hp2 others(29): Show HG00673.hp2 HG02080.hp2 HG02135.hp2 HG02895.hp1 HG02897.hp2 HG03239.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03688.hp2 HG03834.hp2 NA18612.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18947.hp1 NA18954.hp1 NA18961.hp2 NA18964.hp1 NA18966.hp1 NA18973.hp1 NA18979.hp2 NA18983.hp1 NA18990.hp1 NA18998.hp1 NA19030.hp2 NA19054.hp2 NA19066.hp1 NA19070.hp2 NA19080.hp1	a0001 a0004 a0006 others(4): Show a0001 a0004 a0006 a0007 a0010 a0038 a0039	a0001c0070 a0004c0033 a0006c0014 others(7): Show a0001c0070 a0004c0033 a0006c0014 a0007c0006 a0007c0029 a0007c0060 a0010c0007 a0010c0067 a0038c0059 a0039c0058	a0001c0070t0001 a0004c0033t0003 a0006c0014t0002 others(7): Show a0001c0070t0001 a0004c0033t0003 a0006c0014t0002 a0007c0006t0003 a0007c0029t0003 a0007c0060t0003 a0010c0007t0003 a0010c0067t0003 a0038c0059t0001 a0039c0058t0003	a0001c0070t0001g0364 a0004c0033t0003g0365 a0004c0033t0003g0366 others(29): Show a0001c0070t0001g0364 a0004c0033t0003g0365 a0004c0033t0003g0366 a0006c0014t0002g0118 a0007c0006t0003g0301 a0007c0006t0003g0340 a0007c0006t0003g0343 a0007c0006t0003g0344 a0007c0006t0003g0347 a0007c0006t0003g0349 a0007c0006t0003g0351 a0007c0006t0003g0353 a0007c0006t0003g0357 a0007c0006t0003g0358 a0007c0006t0003g0359 a0007c0006t0003g0361 a0007c0006t0003g0368 a0007c0029t0003g0342 a0007c0029t0003g0352 a0007c0060t0003g0350 a0010c0007t0003g0338 a0010c0007t0003g0345 a0010c0007t0003g0346 a0010c0007t0003g0354 a0010c0007t0003g0356 a0010c0007t0003g0360 a0010c0007t0003g0362 a0010c0007t0003g0363 a0010c0007t0003g0367 a0010c0067t0003g0348 a0038c0059t0001g0341 a0039c0058t0003g0355	32	386	0.0829	-25	c.758 others(40): Show c.758-368_758-344delAAAAAAAAATATATATATATATATA	USP36	ENSG00000055483.20	transcript	ENST00000449938.7	protein_coding	7/20			chr17	TogoVar
USP36_chr17_78790652_78845814	78821406	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0003 a0004c0005t0003	a0004c0005t0003g0117 a0004c0005t0003g0117	1	386	0.0026	-25	c.758 others(40): Show c.758-370_758-346delAAAAAAAAAAATATATATATATATA	USP36	ENSG00000055483.20	transcript	ENST00000449938.7	protein_coding	7/20			chr17	TogoVar
USP36_chr17_78790652_78845814	78845475	TGCAAAGG others(18): Show TGCAAAGGTGTAGATGGGCTGGGTGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0010 a0010	a0010c0007 a0010c0007	a0010c0007t0003 a0010c0007t0003	a0010c0007t0003g0338 a0010c0007t0003g0338	1	386	0.0026	-25	c.-49 others(36): Show c.-4938_-4914delGCACCCAGCCCATCTACACCTTTGC	USP36	ENSG00000055483.20	transcript	ENST00000449938.7	protein_coding		4662		chr17	TogoVar
USP39_chr2_85611186_85654283	85614979	AGTGTGGT others(18): Show AGTGTGGTGTGGTGTGGTGTGGTGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG03704.hp2 HG01074.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0013 a0001c0001t0002g0280 a0001c0001t0001g0013 a0001c0001t0002g0280	2	350	0.0057	-25	c.-12 others(36): Show c.-1216_-1192delGTGTGGTGTGGTGTGGTGTGGTGTG	USP39	ENSG00000168883.20	transcript	ENST00000323701.11	protein_coding		1206		chr2	TogoVar
USP46_chr4_52585960_52664301	52632969	AAAGAAAG others(18): Show AAAGAAAGAAAGAAAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03225.hp1 HG02970.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0117 a0001c0001t0001g0106 a0001c0001t0001g0117	2	192	0.0104	-25	c.37- others(40): Show c.37-1850_37-1826delCTTTTCTTTTCTTTCTTTCTTTCTT	USP46	ENSG00000109189.13	transcript	ENST00000441222.8	protein_coding	1/8			chr4	TogoVar
USP46_chr4_52585960_52664301	52632980	GAAAGAAA others(18): Show GAAAGAAAAGAAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0004 a0001c0001t0006g0004	1	192	0.0052	-25	c.37- others(40): Show c.37-1861_37-1837delTTTCTTTCTTTCTTTTCTTTTCTTT	USP46	ENSG00000109189.13	transcript	ENST00000441222.8	protein_coding	1/8			chr4	TogoVar
USP46_chr4_52585960_52664301	52632985	AAAAGAAA others(18): Show AAAAGAAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01123.hp2 HG01257.hp1 others(18): Show HG00639.hp2 HG01123.hp2 HG01257.hp1 HG01361.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG02155.hp2 HG02165.hp1 HG02559.hp1 HG02572.hp2 HG02647.hp2 HG02818.hp2 HG02895.hp2 HG03130.hp2 HG03195.hp1 HG03471.hp2 NA18949.hp1 NA18951.hp1 NA18966.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0004 a0001c0001t0002 a0001c0004t0004	a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0152 others(17): Show a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0171 a0001c0001t0002g0174 a0001c0001t0002g0176 a0001c0001t0002g0184 a0001c0001t0002g0188 a0001c0004t0004g0002 a0001c0004t0004g0166 a0001c0004t0004g0167 a0001c0004t0004g0183	21	192	0.1094	-25	c.37- others(40): Show c.37-1866_37-1842delCTTTCTTTCTTTCTTTCTTTTCTTT	USP46	ENSG00000109189.13	transcript	ENST00000441222.8	protein_coding	1/8			chr4	TogoVar
USP49_chr6_41784896_41900375	41815365	GAGCCAAG others(18): Show GAGCCAAGATTGCGCCACTGCACTCC	G G	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	384	0.0026	-25	c.-28 others(42): Show c.-28-8379_-28-8355delGGAGTGCAGTGGCGCAATCTTGGCT	USP49	ENSG00000164663.15	transcript	ENST00000682992.1	protein_coding	3/7			chr6	TogoVar
USP50_chr15_50495562_50551666	50550032	GTCTCCCA others(18): Show GTCTCCCAGGTTTCTCCAATGTAGTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	384	0.0026	-25	c.-35 others(36): Show c.-3532_-3508delAACTACATTGGAGAAACCTGGGAGA	USP50	ENSG00000170236.16	transcript	ENST00000532404.6	protein_coding		3367		chr15	TogoVar
USP7_chr16_8887097_8968906	8940872	GTCCAGAA others(18): Show GTCCAGAACCTGGAATATATACAGTC	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0182	1	338	0.0030	-25	c.80- others(42): Show c.80-10500_80-10476delGACTGTATATATTCCAGGTTCTGGA	USP7	ENSG00000187555.17	transcript	ENST00000344836.9	protein_coding	1/30			chr16	TogoVar
USP9X_chrX_41080445_41241579	41159043	CTCCAACC others(18): Show CTCCAACCACTTCTATTTAACATTCT	C C	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18984.hp1 NA19086.hp1 NA18981.hp1 NA18984.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0006g0008 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0006g0008	3	293	0.0102	-25	c.189 others(44): Show c.1898-3746_1898-3722delTCCAACCACTTCTATTTAACATTCT	USP9X	ENSG00000124486.15	transcript	ENST00000378308.7	protein_coding	14/44			chrX	TogoVar
USP9Y_chrY_12696231_12865839	12807338	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0090	3	131	0.0229	-25	c.398 others(44): Show c.3984-2822_3984-2798delTTTTTTTTTTTTTTTTTTTTTTTTT	USP9Y	ENSG00000114374.13	transcript	ENST00000338981.7	protein_coding	27/45		INFO_REALIGN_3_PRIME	chrY	TogoVar
UTP20_chr12_101275105_101391618	101340937	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01109.hp1 HG01884.hp2 others(26): Show HG00621.hp1 HG01109.hp1 HG01884.hp2 HG01891.hp2 HG02004.hp1 HG02015.hp1 HG02083.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp2 HG02970.hp1 HG03209.hp2 HG03225.hp1 HG03942.hp1 HG04204.hp1 HG06807.hp1 NA18947.hp1 NA18979.hp2 NA18990.hp1 NA18991.hp1 NA19003.hp1 NA19006.hp1 NA19043.hp1 NA19055.hp1 NA19065.hp1 NA19066.hp1 NA19075.hp2 NA19078.hp1 NA20300.hp2	a0001 a0008 a0015 a0001 a0008 a0015	a0001c0001 a0001c0004 a0001c0007 others(2): Show a0001c0001 a0001c0004 a0001c0007 a0008c0011 a0015c0015	a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 others(5): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0004t0001 a0001c0007t0002 a0008c0011t0002 a0015c0015t0002	a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0288 others(26): Show a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0288 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0341 a0001c0001t0006g0317 a0001c0001t0006g0318 a0001c0001t0007g0167 a0001c0001t0007g0286 a0001c0001t0007g0289 a0001c0001t0010g0133 a0001c0004t0001g0019 a0001c0004t0001g0021 a0001c0007t0002g0142 a0001c0007t0002g0144 a0001c0007t0002g0145 a0001c0007t0002g0146 a0001c0007t0002g0147 a0001c0007t0002g0149 a0001c0007t0002g0150 a0008c0011t0002g0309 a0015c0015t0002g0141	29	356	0.0815	-25	c.410 others(42): Show c.4101+358_4101+382delTTTTTTTTTTTTTTTTTTTTTTTTT	UTP20	ENSG00000120800.5	transcript	ENST00000261637.5	protein_coding	32/61		INFO_REALIGN_3_PRIME	chr12	TogoVar
UTS2B_chr3_191262168_191335526	191283461	GCCACAAC others(18): Show GCCACAACATTTTGTTTGTATATCTA	G G	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02145.hp2 HG02257.hp1 others(17): Show HG01943.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02647.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG03195.hp1 HG03516.hp2 NA18906.hp1 NA18906.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0005 a0002c0002 a0005c0005	a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 others(10): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 a0002c0002t0014 a0002c0002t0019 a0002c0002t0025 a0002c0002t0046 a0002c0002t0048 a0002c0002t0056 a0002c0002t0057 a0002c0002t0072 a0002c0002t0073 a0005c0005t0019	a0002c0002t0002g0365 a0002c0002t0003g0196 a0002c0002t0003g0197 others(16): Show a0002c0002t0002g0365 a0002c0002t0003g0196 a0002c0002t0003g0197 a0002c0002t0003g0211 a0002c0002t0003g0222 a0002c0002t0003g0367 a0002c0002t0008g0364 a0002c0002t0014g0321 a0002c0002t0014g0324 a0002c0002t0014g0371 a0002c0002t0019g0005 a0002c0002t0025g0221 a0002c0002t0046g0205 a0002c0002t0048g0203 a0002c0002t0056g0368 a0002c0002t0057g0366 a0002c0002t0072g0225 a0002c0002t0073g0085 a0005c0005t0019g0204	20	402	0.0498	-25	c.-12 others(44): Show c.-124-1173_-124-1149delTAGATATACAAACAAAATGTTGTGG	UTS2B	ENSG00000188958.10	transcript	ENST00000340524.10	protein_coding	4/8			chr3	TogoVar
UTS2R_chr17_82366765_82382458	82379431	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0002 a0001c0002t0004g0002	1	384	0.0026	-25	c.39 others(36): Show c.3938_*3962delAAAAAAAAAAAAAAAAAAAAAAAAA	UTS2R	ENSG00000181408.5	transcript	ENST00000313135.5	protein_coding		1974		chr17	TogoVar

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