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
TXNDC16_chr14_52425596_52557505	52493215	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02132.hp2 NA18939.hp2 others(5): Show HG01099.hp2 HG02132.hp2 NA18939.hp2 NA18942.hp1 NA18999.hp1 NA19004.hp2 NA19005.hp1 NA19080.hp1	a0002 a0002	a0002c0003 a0002c0009 a0002c0003 a0002c0009	a0002c0003t0001 a0002c0003t0002 a0002c0009t0002 a0002c0003t0001 a0002c0003t0002 a0002c0009t0002	a0002c0003t0001g0200 a0002c0003t0002g0197 a0002c0003t0002g0201 others(5): Show a0002c0003t0001g0200 a0002c0003t0002g0197 a0002c0003t0002g0201 a0002c0003t0002g0219 a0002c0003t0002g0221 a0002c0003t0002g0225 a0002c0003t0002g0226 a0002c0009t0002g0217	8	238	0.0336	23	c.757 others(40): Show c.757-2211_757-2210insATATATATATATATATATATATA	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	9/20			chr14	TogoVar
TXNDC16_chr14_52425596_52557505	52530258	T T	TATAATAA others(16): Show TATAATAATATATATTATTATATA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02165.hp1 HG03834.hp1 others(1): Show HG02056.hp2 HG02165.hp1 HG03834.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(1): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0066	4	238	0.0168	23	c.392 others(40): Show c.392+6460_392+6461insTATATAATAATATATATTATTAT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
TXNDC16_chr14_52425596_52557505	52545502	T T	TTATGTCT others(16): Show TTATGTCTACATAATGAAGTAGAA	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0129 a0001c0002t0001g0129	1	238	0.0042	23	c.-18 others(42): Show c.-181-1132_-181-1131insTTCTACTTCATTATGTAGACATA	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	1/20			chr14	TogoVar
TXNDC5_chr6_7876517_7915788	7882046	C C	CCAGAGCA others(16): Show CCAGAGCAGCCCACTGACATCTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0194 a0001c0001t0015g0194	1	402	0.0025	23	c.10 others(34): Show c.1075_*1097dupACAGATGTCAGTGGGCTGCTCTG	TXNDC5	ENSG00000239264.9	transcript	ENST00000379757.9	protein_coding	10/10	1097		chr6	TogoVar
TXNDC8_chr9_110298476_110342863	110299979	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG03486.hp2 NA19030.hp2 HG02809.hp1 HG03486.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0036 a0001c0001t0001g0340 a0002c0002t0001g0313 a0001c0001t0001g0036 a0001c0001t0001g0340 a0002c0002t0001g0313	3	416	0.0072	23	c.37 others(34): Show c.3702_*3703insATATATATATATATATATATATA	TXNDC8	ENSG00000204193.12	transcript	ENST00000423740.7	protein_coding		3496		chr9	TogoVar
TXNDC8_chr9_110298476_110342863	110299979	A A	ATATATAT others(16): Show ATATATATATATATATATATATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0315 a0002c0002t0001g0315	1	416	0.0024	23	c.37 others(34): Show c.3702_*3703insAAATATATATATATATATATATA	TXNDC8	ENSG00000204193.12	transcript	ENST00000423740.7	protein_coding		3496		chr9	TogoVar
TXNDC9_chr2_99313982_99341333	99339006	A A	ACAAATAT others(16): Show ACAAATATATATATATATATACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp1 NA18987.hp2 others(2): Show HG01256.hp1 HG01258.hp1 NA18987.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0020 others(1): Show a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0052	5	370	0.0135	23	c.-28 others(34): Show c.-2801_-2800insATGTATATATATATATATATTTG	TXNDC9	ENSG00000115514.12	transcript	ENST00000264255.8	protein_coding		2674		chr2	TogoVar
TXNL4A_chr18_79965813_79993563	79969330	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	390	0.0026	23	c.43 others(34): Show c.4354_*4355insCTTTCTTTCTTTCTTTCTTTCTT	TXNL4A	ENSG00000141759.15	transcript	ENST00000269601.10	protein_coding		1482		chr18	TogoVar
TXNRD1_chr12_104210779_104355307	104252658	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0300 a0001c0002t0001g0300	1	302	0.0033	23	c.243 others(38): Show c.243+980_243+981insATATATATATATATATATATATA	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	2/16			chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104252691	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0117 a0001c0003t0003g0117	1	302	0.0033	23	c.243 others(40): Show c.243+1013_243+1014insATATATATATATATATATATATA	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	2/16			chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104254644	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0287 a0001c0002t0001g0287	1	302	0.0033	23	c.243 others(40): Show c.243+2967_243+2968insAAAAAAAAAAAAAAAAAAATATA	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104254644	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp1 NA18945.hp1 HG01071.hp1 NA18945.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0142 a0001c0003t0001g0144 a0001c0003t0001g0142 a0001c0003t0001g0144	2	302	0.0066	23	c.243 others(40): Show c.243+2967_243+2968insAAAAAAAAAAATATATATATATA	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104254644	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0114 a0001c0003t0003g0114	1	302	0.0033	23	c.243 others(40): Show c.243+2966_243+2967insTATATATATATATATATATATAT	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	2/16			chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104267239	T T	TCTCTTTC others(16): Show TCTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	302	0.0033	23	c.304 others(40): Show c.304+9160_304+9161insCTCTTTCTTTCTTTCTTTCTTTC	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	3/16			chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104267280	T T	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	302	0.0033	23	c.304 others(40): Show c.304+9204_304+9205insTTTCTTTCTTTCTTTCTTTCTTC	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
TXNRD1_chr12_104210779_104355307	104294233	G G	GGCGCCCC others(16): Show GGCGCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG04184.hp1 HG04204.hp1 HG02630.hp1 HG04184.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0032 a0001c0001t0001g0165 a0001c0003t0003g0115 a0001c0001t0001g0032 a0001c0001t0001g0165 a0001c0003t0003g0115	3	302	0.0099	23	c.414 others(40): Show c.414+5193_414+5194insGCGCCCCCCCCCCCCCCCCCCCC	TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	4/16			chr12	TogoVar
TYSND1_chr10_70132981_70151700	70149347	A A	ACAGACGT others(16): Show ACAGACGTGAGCCACCGCGCCCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0008 a0002c0001t0008	a0002c0001t0008g0009 a0002c0001t0008g0009	1	458	0.0022	23	c.-27 others(34): Show c.-2784_-2762dupCCGGGCGCGGTGGCTCACGTCTG	TYSND1	ENSG00000156521.14	transcript	ENST00000287078.7	protein_coding		2648		chr10	TogoVar
TYSND1_chr10_70132981_70151700	70149547	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0006 a0002c0001t0001g0006	1	458	0.0022	23	c.-29 others(34): Show c.-2962_-2961insAAAAAAAAAAAAAAAAAAAAAAA	TYSND1	ENSG00000156521.14	transcript	ENST00000287078.7	protein_coding		2848		chr10	TogoVar
TYW1B_chr7_72569513_72833200	72632285	G G	GTATATAT others(16): Show GTATATATATATATATATATTATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02809.hp2 HG02647.hp2 HG02809.hp2	a0001 a0001	a0001c0007 a0001c0019 a0001c0007 a0001c0019	a0001c0007t0001 a0001c0019t0001 a0001c0007t0001 a0001c0019t0001	a0001c0007t0001g0188 a0001c0019t0001g0088 a0001c0007t0001g0188 a0001c0019t0001g0088	2	286	0.0070	23	c.150 others(42): Show c.1507-3289_1507-3288insTATAATATATATATATATATATA	TYW1B	ENSG00000277149.5	transcript	ENST00000620995.5	protein_coding	11/13			chr7	TogoVar
TYW1B_chr7_72569513_72833200	72632388	G G	GTATATAT others(16): Show GTATATATATAATATATATATACA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00621.hp2 HG00673.hp1 others(23): Show HG00609.hp2 HG00621.hp2 HG00673.hp1 HG01346.hp2 HG01361.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG02027.hp1 HG02273.hp2 NA18939.hp1 NA18941.hp2 NA18944.hp1 NA18953.hp2 NA18989.hp2 NA18994.hp1 NA19002.hp2 NA19011.hp2 NA19012.hp2 NA19070.hp1 NA19077.hp1 NA19081.hp2 NA19084.hp1 NA19086.hp1 NA19086.hp2 NA19090.hp2	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0002 a0003c0004 a0008c0011 a0001c0002 a0003c0004 a0008c0011	a0001c0002t0001 a0003c0004t0001 a0008c0011t0001 a0001c0002t0001 a0003c0004t0001 a0008c0011t0001	a0001c0002t0001g0207 a0001c0002t0001g0212 a0001c0002t0001g0213 others(23): Show a0001c0002t0001g0207 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0221 a0001c0002t0001g0229 a0001c0002t0001g0233 a0001c0002t0001g0238 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0264 a0001c0002t0001g0282 a0003c0004t0001g0100 a0008c0011t0001g0275 a0008c0011t0001g0276	26	286	0.0909	23	c.150 others(42): Show c.1507-3392_1507-3391insTGTATATATATATTATATATATA	TYW1B	ENSG00000277149.5	transcript	ENST00000620995.5	protein_coding	11/13			chr7	TogoVar
TYW1B_chr7_72569513_72833200	72632389	T T	TATATATA others(16): Show TATATATATATAATATATATATAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02083.hp2 HG02698.hp2 others(1): Show HG00621.hp1 HG02083.hp2 HG02698.hp2 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0190 a0002c0003t0001g0110 a0002c0003t0001g0138 others(1): Show a0001c0002t0001g0190 a0002c0003t0001g0110 a0002c0003t0001g0138 a0002c0003t0001g0153	4	286	0.0140	23	c.150 others(42): Show c.1507-3415_1507-3393dupGTATATATATATTATATATATAT	TYW1B	ENSG00000277149.5	transcript	ENST00000620995.5	protein_coding	11/13			chr7	TogoVar
TYW1B_chr7_72569513_72833200	72632390	A A	ATATATAT others(16): Show ATATATATATAATATATATATACG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0224 a0001c0002t0001g0224	1	286	0.0035	23	c.150 others(42): Show c.1507-3394_1507-3393insCGTATATATATATTATATATATA	TYW1B	ENSG00000277149.5	transcript	ENST00000620995.5	protein_coding	11/13			chr7	TogoVar
TYW1B_chr7_72569513_72833200	72632402	T T	TATATATA others(16): Show TATATATATACATATATATATATA	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA19068.hp1 NA18947.hp2 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0244 a0001c0002t0001g0245	2	286	0.0070	23	c.150 others(42): Show c.1507-3406_1507-3405insTATATATATATATGTATATATAT	TYW1B	ENSG00000277149.5	transcript	ENST00000620995.5	protein_coding	11/13			chr7	TogoVar
TYW1B_chr7_72569513_72833200	72632414	T T	TATATATA others(16): Show TATATATATATAATATATATATAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02074.hp1 HG00544.hp1 HG02074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0259 a0001c0002t0001g0260	2	286	0.0070	23	c.150 others(42): Show c.1507-3418_1507-3417insGTATATATATATTATATATATAT	TYW1B	ENSG00000277149.5	transcript	ENST00000620995.5	protein_coding	11/13			chr7	TogoVar
TYW1B_chr7_72569513_72833200	72672473	A A	ACACACAC others(16): Show ACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0107 a0003c0004t0001g0107	1	286	0.0035	23	c.150 others(44): Show c.1506+22213_1506+22214insGTGTGTGTGTGTGTGTGTGTGTG	TYW1B	ENSG00000277149.5	transcript	ENST00000620995.5	protein_coding	11/13			chr7	TogoVar
TYW1_chr7_66991833_67244514	67072963	T T	TTTTTTTT others(16): Show TTTTTTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0220 a0002c0003t0002g0220	1	364	0.0028	23	c.127 others(42): Show c.1274+5561_1274+5562insTTTTTTTTTTTTTTTTTTTTTGT	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
TYW1_chr7_66991833_67244514	67112100	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA19012.hp1 NA19080.hp1 NA18983.hp1 NA19012.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0003 a0001c0001t0003 a0001c0002t0003	a0001c0001t0003g0149 a0001c0002t0003g0340 a0001c0002t0003g0349 a0001c0001t0003g0149 a0001c0002t0003g0340 a0001c0002t0003g0349	3	364	0.0082	23	c.156 others(42): Show c.1563-5382_1563-5360dupAAAAAAAAAAAAAAAAAAAAAAA	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
TYW1_chr7_66991833_67244514	67241316	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 NA19043.hp1 HG03516.hp1 NA19043.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0012 a0003c0005t0002g0202 a0003c0005t0002g0012 a0003c0005t0002g0202	2	364	0.0055	23	c.27 others(34): Show c.2787_*2788insAAAAAAAAAAAAAAAAAAAAAAA	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding		1803		chr7	TogoVar
U2SURP_chr3_142996570_143065725	143004573	A A	ACCCCCCC others(16): Show ACCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	378	0.0027	23	c.45+ others(38): Show c.45+2912_45+2913insCCCCCCCCCCCCCCCCCCCCCCC	U2SURP	ENSG00000163714.18	transcript	ENST00000473835.7	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
UACA_chr15_70649554_70768558	70735147	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAATTCTCA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0278 a0001c0001t0003g0278	1	310	0.0032	23	c.78+ others(40): Show c.78+28182_78+28183insTGAGAATTTTTTTTTTTTTTTTT	UACA	ENSG00000137831.15	transcript	ENST00000322954.11	protein_coding	1/18			chr15	TogoVar
UBA2_chr19_34423381_34476251	34456100	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA18984.hp1 HG01081.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0054 a0001c0001t0001g0040 a0001c0001t0001g0054	2	320	0.0063	23	c.124 others(42): Show c.1245+1549_1245+1550insTTTTTTTTTTTTTTTTTTTTTTT	UBA2	ENSG00000126261.13	transcript	ENST00000246548.9	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
UBA2_chr19_34423381_34476251	34457179	A A	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01243.hp2 HG00099.hp1 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0267 a0001c0002t0002g0304 a0001c0002t0002g0267 a0001c0002t0002g0304	2	320	0.0063	23	c.124 others(42): Show c.1246-1589_1246-1588insAAATATATATATATATATATATA	UBA2	ENSG00000126261.13	transcript	ENST00000246548.9	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
UBAC2_chr13_99195854_99391504	99330458	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01192.hp1 HG01261.hp1 others(4): Show HG00597.hp1 HG01192.hp1 HG01261.hp1 HG01346.hp1 HG02015.hp1 NA18984.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0176 a0001c0001t0001g0299 a0001c0001t0001g0302 others(4): Show a0001c0001t0001g0176 a0001c0001t0001g0299 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0308 a0001c0001t0004g0290	7	380	0.0184	23	c.562 others(40): Show c.562-9844_562-9843insAAAAAAAAAAAAAAAAAAAAAAA	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(16): Show CTTTTTTCTTTTTCTTTTTCTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	380	0.0026	23	c.562 others(40): Show c.562-2275_562-2274insCTTTTTCTTTTTCTTTTTTTTTT	UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UBAP1_chr9_34174043_34257523	34181116	C C	CTTTCTTT others(16): Show CTTTCTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01358.hp2 others(4): Show HG01167.hp1 HG01169.hp1 HG01358.hp2 HG01516.hp1 HG02896.hp2 NA20752.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0004 a0001c0001t0010 a0003c0003t0004 a0001c0001t0004 a0001c0001t0010 a0003c0003t0004	a0001c0001t0004g0314 a0001c0001t0004g0315 a0001c0001t0004g0316 others(4): Show a0001c0001t0004g0314 a0001c0001t0004g0315 a0001c0001t0004g0316 a0001c0001t0004g0317 a0001c0001t0004g0318 a0001c0001t0010g0319 a0003c0003t0004g0313	7	342	0.0205	23	c.-8+ others(38): Show c.-8+1879_-8+1880insCTTTTTTTTTTTTTTTTTTTTTT	UBAP1	ENSG00000165006.14	transcript	ENST00000297661.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
UBAP1_chr9_34174043_34257523	34219833	C C	CCCCTTCC others(16): Show CCCCTTCCCCTCCCCCTTCCCTCT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG00642.hp2 others(39): Show HG00280.hp2 HG00438.hp2 HG00642.hp2 HG00733.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01496.hp2 HG01516.hp1 HG01934.hp1 HG01952.hp1 HG01978.hp1 HG02109.hp1 HG02683.hp2 HG02698.hp2 HG02738.hp2 HG02896.hp2 HG02897.hp1 HG03130.hp1 HG03239.hp2 HG03669.hp2 HG03688.hp2 HG03834.hp2 HG03927.hp2 NA18906.hp2 NA18947.hp2 NA18989.hp1 NA18995.hp1 NA19074.hp2 NA19085.hp1 NA19086.hp1 NA20752.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0003c0003 a0001c0001 a0001c0006 a0003c0003	a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 others(3): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0012 a0001c0006t0004 a0003c0003t0004	a0001c0001t0004g0294 a0001c0001t0004g0295 a0001c0001t0004g0296 others(39): Show a0001c0001t0004g0294 a0001c0001t0004g0295 a0001c0001t0004g0296 a0001c0001t0004g0297 a0001c0001t0004g0298 a0001c0001t0004g0299 a0001c0001t0004g0300 a0001c0001t0004g0302 a0001c0001t0004g0303 a0001c0001t0004g0304 a0001c0001t0004g0305 a0001c0001t0004g0306 a0001c0001t0004g0307 a0001c0001t0004g0308 a0001c0001t0004g0309 a0001c0001t0004g0310 a0001c0001t0004g0312 a0001c0001t0004g0314 a0001c0001t0004g0315 a0001c0001t0004g0316 a0001c0001t0004g0317 a0001c0001t0004g0321 a0001c0001t0004g0322 a0001c0001t0004g0323 a0001c0001t0004g0325 a0001c0001t0004g0326 a0001c0001t0004g0328 a0001c0001t0004g0329 a0001c0001t0004g0331 a0001c0001t0004g0332 a0001c0001t0004g0333 a0001c0001t0004g0334 a0001c0001t0004g0335 a0001c0001t0004g0336 a0001c0001t0004g0337 a0001c0001t0006g0324 a0001c0001t0006g0338 a0001c0001t0010g0319 a0001c0001t0012g0311 a0001c0006t0004g0327 a0003c0003t0004g0313 a0003c0003t0004g0320	42	342	0.1228	23	c.-7- others(38): Show c.-7-1037_-7-1015dupCTTCCCTCTCCCTTCCCCTCCCC	UBAP1	ENSG00000165006.14	transcript	ENST00000297661.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
UBAP2_chr9_33916693_34053887	33980220	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0107 a0002c0001t0002g0107	1	356	0.0028	23	c.520 others(40): Show c.520+6517_520+6539dupAAAAAAAAAAAAAAAAAAAAAAA	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	6/28			chr9	TogoVar
UBAP2_chr9_33916693_34053887	33981111	T T	TATATATA others(16): Show TATATATATATATATATATTCTGG	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0002 a0002c0013t0002	a0002c0013t0002g0109 a0002c0013t0002g0109	1	356	0.0028	23	c.520 others(40): Show c.520+5648_520+5649insCCAGAATATATATATATATATAT	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	6/28			chr9	TogoVar
UBD_chr6_29550515_29564732	29552997	C C	CGAGTGTT others(16): Show CGAGTGTTGGCCACGCCAAGCTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02683.hp2 HG02074.hp1 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	463	0.0043	23	c.28 others(34): Show c.2882_*2883insCAAGCTTGGCGTGGCCAACACTC	UBD	ENSG00000213886.4	transcript	ENST00000377050.5	protein_coding		2517		chr6	TogoVar
UBE2B_chr5_134366569_134397108	134376336	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0258 a0001c0001t0002g0258	1	282	0.0036	23	c.126 others(38): Show c.126-333_126-332insTATATATATATATATATATATAT	UBE2B	ENSG00000119048.9	transcript	ENST00000265339.7	protein_coding	2/5			chr5	TogoVar
UBE2B_chr5_134366569_134397108	134376338	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 NA18612.hp1 HG01167.hp2 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0181 a0001c0001t0002g0240 a0001c0001t0001g0181 a0001c0001t0002g0240	2	282	0.0071	23	c.126 others(38): Show c.126-331_126-330insTATATATATATATATATATATAT	UBE2B	ENSG00000119048.9	transcript	ENST00000265339.7	protein_coding	2/5			chr5	TogoVar
UBE2B_chr5_134366569_134397108	134376340	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01993.hp2 HG02273.hp1 others(1): Show HG01496.hp2 HG01993.hp2 HG02273.hp1 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0174 a0001c0001t0002g0014 a0001c0001t0002g0230 a0001c0001t0001g0174 a0001c0001t0002g0014 a0001c0001t0002g0230	4	282	0.0142	23	c.126 others(38): Show c.126-329_126-328insTATATATATATATATATATATAT	UBE2B	ENSG00000119048.9	transcript	ENST00000265339.7	protein_coding	2/5			chr5	TogoVar
UBE2B_chr5_134366569_134397108	134376342	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp2 HG02004.hp1 others(2): Show HG01106.hp1 HG01106.hp2 HG02004.hp1 HG03017.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0162 a0001c0001t0001g0163 others(2): Show a0001c0001t0001g0074 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0201 a0001c0001t0001g0252	5	282	0.0177	23	c.126 others(38): Show c.126-327_126-326insTATATATATATATATATATATAT	UBE2B	ENSG00000119048.9	transcript	ENST00000265339.7	protein_coding	2/5			chr5	TogoVar
UBE2B_chr5_134366569_134397108	134376344	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02273.hp2 NA18945.hp2 others(2): Show HG00621.hp1 HG02273.hp2 NA18945.hp2 NA18966.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0144 a0001c0001t0001g0145 others(2): Show a0001c0001t0001g0069 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0250	5	282	0.0177	23	c.126 others(38): Show c.126-325_126-324insTATATATATATATATATATATAT	UBE2B	ENSG00000119048.9	transcript	ENST00000265339.7	protein_coding	2/5			chr5	TogoVar
UBE2B_chr5_134366569_134397108	134376346	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03579.hp1 NA18612.hp2 others(1): Show HG03139.hp1 HG03579.hp1 NA18612.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0034 a0001c0001t0001g0059 a0001c0001t0001g0009 a0001c0001t0001g0034 a0001c0001t0001g0059	4	282	0.0142	23	c.126 others(38): Show c.126-323_126-322insTATATATATATATATATATATAT	UBE2B	ENSG00000119048.9	transcript	ENST00000265339.7	protein_coding	2/5			chr5	TogoVar
UBE2B_chr5_134366569_134397108	134376348	A A	AAATATAT others(16): Show AAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp2 HG02109.hp2 others(1): Show HG01123.hp1 HG01123.hp2 HG02109.hp2 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0004g0005 a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0004g0005	4	282	0.0142	23	c.126 others(38): Show c.126-320_126-319insATATATATATATATATATATATA	UBE2B	ENSG00000119048.9	transcript	ENST00000265339.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
UBE2B_chr5_134366569_134397108	134376348	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	282	0.0036	23	c.126 others(38): Show c.126-321_126-320insTATATATATATATATATATATAT	UBE2B	ENSG00000119048.9	transcript	ENST00000265339.7	protein_coding	2/5			chr5	TogoVar
UBE2E1_chr3_23800955_23896640	23842246	T T	TGTGTGTG others(16): Show TGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01256.hp1 HG01258.hp2 others(2): Show HG00642.hp1 HG01256.hp1 HG01258.hp2 NA18995.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0093 a0001c0001t0001g0119 others(2): Show a0001c0001t0001g0067 a0001c0001t0001g0093 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0124	5	370	0.0135	23	c.203 others(42): Show c.203+30739_203+30740insTGTGTGTGTGTGTGTGTGTGGTG	UBE2E1	ENSG00000170142.12	transcript	ENST00000306627.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
UBE2E2_chr3_23198327_23596794	23291849	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0048 a0001c0001t0012g0048	1	336	0.0030	23	c.227 others(42): Show c.227+74542_227+74564dupTTTTTTTTTTTTTTTTTTTTTTT	UBE2E2	ENSG00000182247.11	transcript	ENST00000396703.6	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
UBE2E2_chr3_23198327_23596794	23504912	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03471.hp2 NA18969.hp2 others(1): Show HG01109.hp2 HG03471.hp2 NA18969.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0037 a0001c0001t0002 a0001c0001t0037	a0001c0001t0002g0221 a0001c0001t0002g0232 a0001c0001t0002g0265 others(1): Show a0001c0001t0002g0221 a0001c0001t0002g0232 a0001c0001t0002g0265 a0001c0001t0037g0215	4	336	0.0119	23	c.360 others(40): Show c.360+5186_360+5187insTTTTTTTTTTTTTTTTTTTTTTT	UBE2E2	ENSG00000182247.11	transcript	ENST00000396703.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar

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