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
TYW1B_chr7_72569513_72833200	72645961	T T	TTATATAT others(27): Show TTATATATTATATATATTACATATGTTATATGTTA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0025 a0002c0003t0001g0025	1	286	0.0035	34	c.150 others(55): Show c.1507-16998_1507-16965dupTAACATATAACATATGTAATATAT ATAATATATA	TYW1B	ENSG00000277149.5	transcript	ENST00000620995.5	protein_coding	11/13			chr7	TogoVar
U2AF1L4_chr19_35737527_35750418	35749130	C C	CGATCCTC others(27): Show CGATCCTCCCGCCTTAGCCTCCCAAAGTGCTGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	404	0.0025	34	c.-37 others(45): Show c.-3773_-3740dupTCTCAGCACTTTGGGAGGCTAAGGCGGGAGGATC	U2AF1L4	ENSG00000161265.15	transcript	ENST00000378975.8	protein_coding		3713		chr19	TogoVar
UACA_chr15_70649554_70768558	70700301	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATGTATATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02976.hp2 HG01243.hp2 HG02976.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0006 a0001c0003 a0003c0006	a0001c0003t0002 a0003c0006t0002 a0001c0003t0002 a0003c0006t0002	a0001c0003t0002g0218 a0003c0006t0002g0024 a0001c0003t0002g0218 a0003c0006t0002g0024	2	310	0.0065	34	c.79- others(47): Show c.79-642_79-641insTATATACATATATATATATATATATATATATA TA	UACA	ENSG00000137831.15	transcript	ENST00000322954.11	protein_coding	1/18			chr15	TogoVar
UACA_chr15_70649554_70768558	70700301	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATGTATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0012 a0012	a0012c0019 a0012c0019	a0012c0019t0005 a0012c0019t0005	a0012c0019t0005g0295 a0012c0019t0005g0295	1	310	0.0032	34	c.79- others(47): Show c.79-642_79-641insTATATATACATATATATATATATATATATATA TA	UACA	ENSG00000137831.15	transcript	ENST00000322954.11	protein_coding	1/18			chr15	TogoVar
UACA_chr15_70649554_70768558	70700318	T T	TATATATA others(27): Show TATATATATGTATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02922.hp1 NA18522.hp1 HG02896.hp2 HG02922.hp1 NA18522.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0005 a0003c0006t0002 a0003c0006t0005	a0003c0006t0002g0023 a0003c0006t0005g0256 a0003c0006t0005g0294 a0003c0006t0002g0023 a0003c0006t0005g0256 a0003c0006t0005g0294	3	310	0.0097	34	c.79- others(47): Show c.79-659_79-658insGTATATATATATATATATATATATACATATAT AT	UACA	ENSG00000137831.15	transcript	ENST00000322954.11	protein_coding	1/18			chr15	TogoVar
UACA_chr15_70649554_70768558	70712051	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03490.hp1 HG03492.hp2 others(1): Show HG02683.hp1 HG03490.hp1 HG03492.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0031 a0001c0003t0002g0029 a0001c0003t0002g0030 others(1): Show a0001c0001t0001g0031 a0001c0003t0002g0029 a0001c0003t0002g0030 a0001c0003t0002g0037	4	310	0.0129	34	c.79- others(51): Show c.79-12392_79-12391insATATATATATATATATATATATATATAT ATATAT	UACA	ENSG00000137831.15	transcript	ENST00000322954.11	protein_coding	1/18			chr15	TogoVar
UACA_chr15_70649554_70768558	70735147	T T	TAAAAAAA others(27): Show TAAAAAAAAAAAAAAAAATTCTCAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG03490.hp2 HG03710.hp2 others(4): Show HG00673.hp2 HG03490.hp2 HG03710.hp2 NA19001.hp1 NA19030.hp2 NA19062.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0001t0001 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0132 a0001c0001t0001g0184 a0001c0001t0001g0220 others(4): Show a0001c0001t0001g0132 a0001c0001t0001g0184 a0001c0001t0001g0220 a0001c0001t0001g0240 a0001c0001t0001g0248 a0001c0003t0001g0203 a0001c0004t0001g0141	7	310	0.0226	34	c.78+ others(51): Show c.78+28182_78+28183insTTTTTTTTTTTTGAGAATTTTTTTTTTT TTTTTT	UACA	ENSG00000137831.15	transcript	ENST00000322954.11	protein_coding	1/18			chr15	TogoVar
UBA2_chr19_34423381_34476251	34457179	A A	AAAATATA others(27): Show AAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	320	0.0031	34	c.124 others(53): Show c.1246-1589_1246-1588insAATATATATATATATATATATATATA TATATATA	UBA2	ENSG00000126261.13	transcript	ENST00000246548.9	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
UBAC2_chr13_99195854_99391504	99232399	G G	GAGATAGA others(27): Show GAGATAGATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01109.hp1 HG02602.hp2 HG00673.hp1 HG01109.hp1 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0001t0002 a0001c0001t0003 a0001c0001t0013	a0001c0001t0002g0324 a0001c0001t0003g0092 a0001c0001t0013g0325 a0001c0001t0002g0324 a0001c0001t0003g0092 a0001c0001t0013g0325	3	380	0.0079	34	c.32- others(49): Show c.32-6027_32-6026insGATAGATATATATATATATATATATATATA TATA	UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UBAC2_chr13_99195854_99391504	99232399	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA18961.hp2 NA18965.hp1 others(6): Show HG04184.hp2 NA18961.hp2 NA18965.hp1 NA18969.hp1 NA18970.hp1 NA18972.hp2 NA18983.hp2 NA19054.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0041 others(6): Show a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0060	9	380	0.0237	34	c.32- others(49): Show c.32-6023_32-6022insTATATATATATATATATATATATATATATA TATA	UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UBAC2_chr13_99195854_99391504	99242630	G G	GGGCTGAC others(27): Show GGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0370 a0001c0001t0001g0370	1	380	0.0026	34	c.160 others(51): Show c.160-1189_160-1188insCACCTCCCTCCCGGACGGGGCGGCTGAC CCCCCC	UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UBAC2_chr13_99195854_99391504	99242636	A A	ACCCCCCC others(27): Show ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00544.hp2 others(81): Show HG00323.hp1 HG00408.hp1 HG00544.hp2 HG00558.hp2 HG00735.hp1 HG00738.hp2 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01261.hp1 HG01358.hp2 HG01433.hp1 HG01517.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01981.hp2 HG02015.hp2 HG02056.hp1 HG02080.hp2 HG02135.hp1 HG02148.hp2 HG02257.hp2 HG02273.hp1 HG02523.hp1 HG02647.hp1 HG02717.hp1 HG02738.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp2 HG03688.hp2 NA18906.hp2 NA18940.hp2 NA18941.hp2 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18957.hp2 NA18960.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18967.hp2 NA18969.hp2 NA18971.hp2 NA18975.hp2 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18990.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA18999.hp2 NA19001.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19012.hp2 NA19056.hp2 NA19058.hp2 NA19063.hp2 NA19064.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19091.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0002c0002t0002	a0001c0001t0001g0038 a0001c0001t0001g0218 a0001c0001t0001g0308 others(81): Show a0001c0001t0001g0038 a0001c0001t0001g0218 a0001c0001t0001g0308 a0001c0001t0002g0002 a0001c0001t0002g0133 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0182 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0273 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0003g0142 a0001c0001t0005g0122 a0001c0001t0006g0181 a0001c0001t0006g0204 a0001c0001t0006g0205 a0001c0001t0006g0206 a0001c0001t0006g0207 a0001c0001t0006g0208 a0001c0001t0006g0209 a0001c0001t0006g0319 a0002c0002t0002g0183 a0002c0002t0002g0186	84	380	0.2211	34	c.160 others(51): Show c.160-1164_160-1163insACCCCCCCCACCTCCCTCCCGGACGGGG CGGCTG	UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UBAC2_chr13_99195854_99391504	99330458	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01123.hp2 NA20905.hp1 HG00738.hp1 HG01123.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0118 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0118	3	380	0.0079	34	c.562 others(51): Show c.562-9844_562-9843insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UBAC2_chr13_99195854_99391504	99338039	C C	CTTTTTTC others(27): Show CTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	380	0.0026	34	c.562 others(51): Show c.562-2275_562-2274insCTTTTTCTTTTTTTTTTTTTTTTTTTTT TTTTTT	UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UBAP1_chr9_34174043_34257523	34202624	C C	CCTCTGTG others(27): Show CCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0257 a0001c0001t0005g0257	1	342	0.0029	34	c.-7- others(51): Show c.-7-18284_-7-18283insCTCTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	UBAP1	ENSG00000165006.14	transcript	ENST00000297661.9	protein_coding	1/6			chr9	TogoVar
UBAP1_chr9_34174043_34257523	34202624	C C	CCTGTGTG others(27): Show CCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02135.hp1 HG03195.hp2 others(1): Show HG01993.hp1 HG02135.hp1 HG03195.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0045 a0001c0001t0001g0050 others(1): Show a0001c0001t0001g0016 a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0264	4	342	0.0117	34	c.-7- others(51): Show c.-7-18284_-7-18283insCTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	UBAP1	ENSG00000165006.14	transcript	ENST00000297661.9	protein_coding	1/6			chr9	TogoVar
UBAP2_chr9_33916693_34053887	33981123	T T	TATATATA others(27): Show TATATATATTCTGGATATATATATATATATTCTGG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0061 a0002c0001t0002g0061	1	356	0.0028	34	c.520 others(51): Show c.520+5636_520+5637insCCAGAATATATATATATATATCCAGAAT ATATAT	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	6/28			chr9	TogoVar
UBAP2_chr9_33916693_34053887	34035514	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0301 a0001c0003t0001g0301	1	356	0.0028	34	c.-42 others(53): Show c.-42+13310_-42+13311insATATATATATATATATATATTTTTTT TTTTTTTT	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	1/28			chr9	TogoVar
UBAP2_chr9_33916693_34053887	34035514	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0300 a0001c0003t0001g0300	1	356	0.0028	34	c.-42 others(53): Show c.-42+13310_-42+13311insATATATATATATATATATATATTTTT TTTTTTTT	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	1/28			chr9	TogoVar
UBAP2_chr9_33916693_34053887	34035514	A A	AAAAAAAA others(27): Show AAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03710.hp1 NA18906.hp1 HG00735.hp2 HG03710.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0302 a0001c0003t0001g0303 a0001c0003t0001g0343 a0001c0003t0001g0302 a0001c0003t0001g0303 a0001c0003t0001g0343	3	356	0.0084	34	c.-42 others(53): Show c.-42+13310_-42+13311insATATATATATATATATATATATATTT TTTTTTTT	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	1/28			chr9	TogoVar
UBASH3B_chr11_122650722_122819473	122690172	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATCCAAT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0055 a0001c0002t0002g0055	1	290	0.0035	34	c.161 others(53): Show c.161+33991_161+33992insCCAATTATATATATATATATATATAT ATATATAT	UBASH3B	ENSG00000154127.10	transcript	ENST00000284273.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
UBASH3B_chr11_122650722_122819473	122690174	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATCCAAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0056 a0002c0003t0002g0056	1	290	0.0035	34	c.161 others(53): Show c.161+33993_161+33994insCCAATTATATATATATATATATATAT ATATATAT	UBASH3B	ENSG00000154127.10	transcript	ENST00000284273.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
UBASH3B_chr11_122650722_122819473	122699531	C C	CTCTTTCT others(27): Show CTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02723.hp2 HG03139.hp2 others(1): Show HG01891.hp2 HG02723.hp2 HG03139.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0031 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0031 a0001c0001t0042	a0001c0001t0001g0156 a0001c0001t0006g0154 a0001c0001t0031g0283 others(1): Show a0001c0001t0001g0156 a0001c0001t0006g0154 a0001c0001t0031g0283 a0001c0001t0042g0155	4	290	0.0138	34	c.161 others(53): Show c.161+43336_161+43337insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCT	UBASH3B	ENSG00000154127.10	transcript	ENST00000284273.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
UBE2B_chr5_134366569_134397108	134376346	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	282	0.0036	34	c.126 others(49): Show c.126-322_126-321insTATATATATATATATATATATATATATATA TATA	UBE2B	ENSG00000119048.9	transcript	ENST00000265339.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
UBE2B_chr5_134366569_134397108	134376348	A A	AAAAAATA others(27): Show AAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	282	0.0036	34	c.126 others(49): Show c.126-320_126-319insAAAATATATATATATATATATATATATATA TATA	UBE2B	ENSG00000119048.9	transcript	ENST00000265339.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
UBE2B_chr5_134366569_134397108	134376348	A A	AAAATATA others(27): Show AAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp2 HG02895.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0096 a0001c0001t0001g0097	2	282	0.0071	34	c.126 others(49): Show c.126-320_126-319insAATATATATATATATATATATATATATATA TATA	UBE2B	ENSG00000119048.9	transcript	ENST00000265339.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
UBE2B_chr5_134366569_134397108	134376348	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	282	0.0036	34	c.126 others(49): Show c.126-304_126-303insTATATATATATATATATATATATATATATA TATA	UBE2B	ENSG00000119048.9	transcript	ENST00000265339.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
UBE2B_chr5_134366569_134397108	134376364	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01168.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	2	282	0.0071	34	c.126 others(49): Show c.126-304_126-303insTATATATATATATATATATATATATATATA TACA	UBE2B	ENSG00000119048.9	transcript	ENST00000265339.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
UBE2D3_chr4_102789383_102832551	102798279	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp1 NA18968.hp2 HG02735.hp1 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0230 a0001c0001t0001g0080 a0001c0001t0001g0230	2	368	0.0054	34	c.399 others(49): Show c.399-820_399-819insATATATATATATATATATATATATATATAT ATAT	UBE2D3	ENSG00000109332.20	transcript	ENST00000453744.7	protein_coding	7/7			chr4	TogoVar
UBE2E2_chr3_23198327_23596794	23396302	T T	TATATATA others(27): Show TATATATATATATATATATATATGTATATATATAC	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0202 a0001c0001t0031g0202	1	336	0.0030	34	c.228 others(55): Show c.228-103306_228-103305insATATATATATATATATATATATGT ATATATATAC	UBE2E2	ENSG00000182247.11	transcript	ENST00000396703.6	protein_coding	3/5			chr3	TogoVar
UBE2E2_chr3_23198327_23596794	23571280	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00673.hp2 HG04184.hp2 others(1): Show HG00621.hp1 HG00673.hp2 HG04184.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0019 a0001c0001t0003 a0001c0001t0019	a0001c0001t0003g0158 a0001c0001t0003g0174 a0001c0001t0003g0184 others(1): Show a0001c0001t0003g0158 a0001c0001t0003g0174 a0001c0001t0003g0184 a0001c0001t0019g0229	4	336	0.0119	34	c.509 others(53): Show c.509-18427_509-18426insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	UBE2E2	ENSG00000182247.11	transcript	ENST00000396703.6	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
UBE2H_chr7_129825732_129957960	129836879	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	290	0.0035	34	c.428 others(51): Show c.428-1819_428-1818insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	UBE2H	ENSG00000186591.13	transcript	ENST00000355621.8	protein_coding	6/6			chr7	TogoVar
UBE2K_chr4_39693136_39787792	39714550	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0153 a0001c0001t0003g0153	1	336	0.0030	34	c.63+ others(51): Show c.63+16161_63+16162insATATATATATATATATATATATATATAT ATTTTT	UBE2K	ENSG00000078140.14	transcript	ENST00000261427.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
UBE2K_chr4_39693136_39787792	39714550	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0116 a0001c0001t0003g0116	1	336	0.0030	34	c.63+ others(51): Show c.63+16161_63+16162insATATATATATATATATATATATATATTT TTTTTT	UBE2K	ENSG00000078140.14	transcript	ENST00000261427.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
UBE2K_chr4_39693136_39787792	39714550	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02922.hp2 HG00741.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0110 a0001c0001t0005g0269 a0001c0001t0003g0110 a0001c0001t0005g0269	2	336	0.0060	34	c.63+ others(51): Show c.63+16161_63+16162insATATATATATATATATATATATATTTTT TTTTTT	UBE2K	ENSG00000078140.14	transcript	ENST00000261427.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
UBE2L3_chr22_21562714_21629034	21598195	A A	ATGTGTGT others(27): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02071.hp1 NA18941.hp2 others(2): Show HG00544.hp2 HG02071.hp1 NA18941.hp2 NA18949.hp1 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0002 a0001c0001t0016	a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0129 others(2): Show a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0129 a0001c0001t0002g0137 a0001c0001t0016g0107	5	352	0.0142	34	c.123 others(51): Show c.123+5254_123+5255insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	UBE2L3	ENSG00000185651.16	transcript	ENST00000342192.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
UBE2N_chr12_93400684_93446947	93406275	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0200 a0001c0001t0062g0200	1	372	0.0027	34	c.37 others(45): Show c.3763_*3764insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	UBE2N	ENSG00000177889.10	transcript	ENST00000318066.7	protein_coding	4/4	3763		chr12	TogoVar
UBE2O_chr17_76384456_76458152	76415914	C C	CATGCACA others(27): Show CATGCACATACACGTATATACGTATGCGTATACAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02922.hp1 HG02970.hp1 others(2): Show HG02647.hp2 HG02922.hp1 HG02970.hp1 HG03195.hp1 HG03471.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0002 a0003c0005t0002 a0001c0001t0002 a0003c0005t0002	a0001c0001t0002g0316 a0003c0005t0002g0234 a0003c0005t0002g0235 others(2): Show a0001c0001t0002g0316 a0003c0005t0002g0234 a0003c0005t0002g0235 a0003c0005t0002g0236 a0003c0005t0002g0237	5	364	0.0137	34	c.418 others(53): Show c.418-10376_418-10343dupATGTATACGCATACGTATATACGTGT ATGTGCAT	UBE2O	ENSG00000175931.13	transcript	ENST00000319380.12	protein_coding	1/17			chr17	TogoVar
UBE2R2_chr9_33812160_33925399	33877823	G G	GTCTGTCT others(27): Show GTCTGTCTGTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0059 a0001c0001t0003g0059	1	366	0.0027	34	c.178 others(51): Show c.178-9055_178-9054insGTCTGTCTCTCTCTCTCTCTCTCTCTCT CTCTCT	UBE2R2	ENSG00000107341.5	transcript	ENST00000263228.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
UBE2R2_chr9_33812160_33925399	33884198	A A	ATCTCTCT others(27): Show ATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01978.hp2 HG01070.hp2 HG01071.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0208 a0001c0001t0002g0229 a0001c0001t0002g0234 a0001c0001t0002g0208 a0001c0001t0002g0229 a0001c0001t0002g0234	3	366	0.0082	34	c.178 others(51): Show c.178-2679_178-2646dupCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCT	UBE2R2	ENSG00000107341.5	transcript	ENST00000263228.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
UBE2V1_chr20_50076124_50118150	50079375	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0039 a0001c0001t0011g0039	1	398	0.0025	34	c.33 others(45): Show c.3392_*3393insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	UBE2V1	ENSG00000244687.13	transcript	ENST00000371674.8	protein_coding		1748		chr20	TogoVar
UBE3A_chr15_25328728_25444024	25430027	C C	CTATATAT others(27): Show CTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA19007.hp1 NA19054.hp2 HG00597.hp2 NA19007.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0020 a0001c0001t0050 a0001c0001t0016 a0001c0001t0020 a0001c0001t0050	a0001c0001t0016g0104 a0001c0001t0020g0105 a0001c0001t0050g0084 a0001c0001t0016g0104 a0001c0001t0020g0105 a0001c0001t0050g0084	3	298	0.0101	34	c.-16 others(53): Show c.-165+8461_-165+8462insTATATATATATATATATATATATATA TATATATA	UBE3A	ENSG00000114062.22	transcript	ENST00000648336.2	protein_coding	1/12			chr15	TogoVar
UBE3A_chr15_25328728_25444024	25430043	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01099.hp2 HG01074.hp1 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0029 a0001c0001t0008 a0001c0001t0029	a0001c0001t0008g0007 a0001c0001t0029g0008 a0001c0001t0008g0007 a0001c0001t0029g0008	2	298	0.0067	34	c.-16 others(53): Show c.-165+8445_-165+8446insAATATATATATATATATATATATATA TATATATA	UBE3A	ENSG00000114062.22	transcript	ENST00000648336.2	protein_coding	1/12			chr15	TogoVar
UBE3A_chr15_25328728_25444024	25430230	T T	TATATAAG others(27): Show TATATAAGATTATATATATATTATATATATAATAC	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG03579.hp2 NA19030.hp2 HG02027.hp2 HG03579.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108	3	298	0.0101	34	c.-16 others(53): Show c.-165+8258_-165+8259insGTATTATATATATAATATATATATAA TCTTATAT	UBE3A	ENSG00000114062.22	transcript	ENST00000648336.2	protein_coding	1/12			chr15	TogoVar
UBE3C_chr7_157133926_157274370	157211167	G G	GGAGAGAG others(27): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0136 a0001c0001t0007g0136	1	322	0.0031	34	c.180 others(53): Show c.1809+3259_1809+3260insAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAG	UBE3C	ENSG00000009335.19	transcript	ENST00000348165.10	protein_coding	13/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
UBE3C_chr7_157133926_157274370	157211191	A A	AGAGAGAG others(27): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0103 a0001c0001t0016g0103	1	322	0.0031	34	c.180 others(53): Show c.1809+3259_1809+3260insAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGCGAG	UBE3C	ENSG00000009335.19	transcript	ENST00000348165.10	protein_coding	13/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
UBE4A_chr11_118354600_118404211	118355312	T T	TACATATA others(27): Show TACATATATACACATATACATATATGCATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02922.hp1 HG03041.hp1 others(5): Show HG02145.hp1 HG02922.hp1 HG03041.hp1 HG03195.hp1 HG03471.hp1 NA18906.hp2 NA18944.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 others(5): Show a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0196 a0001c0001t0001g0236	8	320	0.0250	34	c.-44 others(45): Show c.-4404_-4403insACATATATACACATATACATATATGCATATATAC	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		4287		chr11	TogoVar
UBR3_chr2_169822454_170089131	169831107	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA18966.hp2 HG02976.hp1 NA18966.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0007 a0001c0002t0002 a0001c0002t0007	a0001c0002t0002g0167 a0001c0002t0007g0131 a0001c0002t0002g0167 a0001c0002t0007g0131	2	324	0.0062	34	c.545 others(51): Show c.545+3076_545+3077insATATATATATATATATATATATATATAT ATATAT	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR3_chr2_169822454_170089131	169831127	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0136 a0001c0002t0002g0136	1	324	0.0031	34	c.545 others(51): Show c.545+3076_545+3077insATATATATATATATATATATATATATAT ATATTT	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR3_chr2_169822454_170089131	169831127	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0120 a0001c0002t0002g0120	1	324	0.0031	34	c.545 others(51): Show c.545+3076_545+3077insATATATATATATATATATATATATATAT ATTTTT	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr2	TogoVar

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