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
UBAC2_chr13_99195854_99391504	99330458	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01361.hp1 NA18941.hp1 HG00741.hp1 HG01361.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0303 a0001c0001t0003g0111 a0001c0001t0003g0114 a0001c0001t0001g0303 a0001c0001t0003g0111 a0001c0001t0003g0114	3	380	0.0079	29	c.562 others(46): Show c.562-9844_562-9843insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UBAP2_chr9_33916693_34053887	33980220	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0098 a0002c0001t0002g0098	1	356	0.0028	29	c.520 others(46): Show c.520+6511_520+6539dupAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	6/28			chr9	TogoVar
UBAP2_chr9_33916693_34053887	33981163	G G	GATATATA others(22): Show GATATATATATATATATATATTCTGGATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0259 a0001c0002t0001g0259	1	356	0.0028	29	c.520 others(46): Show c.520+5596_520+5597insATATCCAGAATATATATATATATATATA T	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	6/28			chr9	TogoVar
UBAP2_chr9_33916693_34053887	33981184	G G	GATATATA others(22): Show GATATATATATATATATATATTCTGGATAT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0146 a0001c0002t0001g0146	1	356	0.0028	29	c.520 others(46): Show c.520+5575_520+5576insATATCCAGAATATATATATATATATATA T	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	6/28			chr9	TogoVar
UBAP2_chr9_33916693_34053887	34035514	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0001 a0006c0015t0001	a0006c0015t0001g0135 a0006c0015t0001g0135	1	356	0.0028	29	c.-42 others(48): Show c.-42+13310_-42+13311insATATATATATATATATTTTTTTTTTT TTT	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	1/28			chr9	TogoVar
UBAP2_chr9_33916693_34053887	34035514	A A	AAAAAAAT others(22): Show AAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0271 a0001c0003t0001g0271	1	356	0.0028	29	c.-42 others(48): Show c.-42+13310_-42+13311insATATATATATATATATATATATATTT TTT	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	1/28			chr9	TogoVar
UBE2B_chr5_134366569_134397108	134376338	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02083.hp2 HG00280.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0243 a0001c0001t0002g0244	2	282	0.0071	29	c.126 others(44): Show c.126-331_126-330insTATATATATATATATATATATATATATAT	UBE2B	ENSG00000119048.9	transcript	ENST00000265339.7	protein_coding	2/5			chr5	TogoVar
UBE2B_chr5_134366569_134397108	134376340	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp2 NA18942.hp1 HG03654.hp2 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0176 a0001c0001t0001g0077 a0001c0001t0001g0176	2	282	0.0071	29	c.126 others(44): Show c.126-329_126-328insTATATATATATATATATATATATATATAT	UBE2B	ENSG00000119048.9	transcript	ENST00000265339.7	protein_coding	2/5			chr5	TogoVar
UBE2B_chr5_134366569_134397108	134376342	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01978.hp1 NA18991.hp2 HG01978.hp1 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0167 a0001c0001t0001g0168	2	282	0.0071	29	c.126 others(44): Show c.126-327_126-326insTATATATATATATATATATATATATATAT	UBE2B	ENSG00000119048.9	transcript	ENST00000265339.7	protein_coding	2/5			chr5	TogoVar
UBE2B_chr5_134366569_134397108	134376344	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	282	0.0036	29	c.126 others(44): Show c.126-325_126-324insTATATATATATATATATATATATATATAT	UBE2B	ENSG00000119048.9	transcript	ENST00000265339.7	protein_coding	2/5			chr5	TogoVar
UBE2B_chr5_134366569_134397108	134376346	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01074.hp1 HG01358.hp1 others(1): Show HG00621.hp2 HG01074.hp1 HG01358.hp1 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0130 others(1): Show a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0130 a0001c0001t0001g0191	4	282	0.0142	29	c.126 others(44): Show c.126-323_126-322insTATATATATATATATATATATATATATAT	UBE2B	ENSG00000119048.9	transcript	ENST00000265339.7	protein_coding	2/5			chr5	TogoVar
UBE2B_chr5_134366569_134397108	134376348	A A	AAAAAAAT others(22): Show AAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp2 HG03041.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0083 a0001c0001t0001g0084	2	282	0.0071	29	c.126 others(44): Show c.126-320_126-319insAAAAATATATATATATATATATATATATA	UBE2B	ENSG00000119048.9	transcript	ENST00000265339.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
UBE2B_chr5_134366569_134397108	134376348	A A	AAAAATAT others(22): Show AAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	282	0.0036	29	c.126 others(44): Show c.126-320_126-319insAAATATATATATATATATATATATATATA	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(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03654.hp1 HG02622.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0115 a0001c0001t0001g0017 a0001c0001t0001g0115	2	282	0.0071	29	c.126 others(44): Show c.126-321_126-320insTATATATATATATATATATATATATATAT	UBE2B	ENSG00000119048.9	transcript	ENST00000265339.7	protein_coding	2/5			chr5	TogoVar
UBE2E1_chr3_23800955_23896640	23845561	T T	TCTCTCTC others(22): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	370	0.0027	29	c.203 others(48): Show c.203+34051_203+34052insCTCTCTCTCTCTCTCTCTCTCTCTCT CTC	UBE2E1	ENSG00000170142.12	transcript	ENST00000306627.8	protein_coding	3/5			chr3	TogoVar
UBE2E2_chr3_23198327_23596794	23571280	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02895.hp2 HG01433.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0074 a0001c0001t0010g0084 a0001c0001t0001g0074 a0001c0001t0010g0084	2	336	0.0060	29	c.509 others(48): Show c.509-18427_509-18426insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	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(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	290	0.0035	29	c.428 others(46): Show c.428-1847_428-1819dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	UBE2H	ENSG00000186591.13	transcript	ENST00000355621.8	protein_coding	6/6			chr7	TogoVar
UBE2I_chr16_1304636_1332017	1322258	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0225 a0001c0001t0002g0225	1	364	0.0028	29	c.413 others(46): Show c.413+1765_413+1766insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	UBE2I	ENSG00000103275.22	transcript	ENST00000397514.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
UBE2K_chr4_39693136_39787792	39714550	A A	ATATATAT others(22): Show ATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	336	0.0030	29	c.63+ others(46): Show c.63+16161_63+16162insATATATATATATATATATATATTTTTTT T	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(22): Show ATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA18991.hp2 HG02738.hp1 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0019 a0001c0001t0005 a0001c0001t0019	a0001c0001t0005g0152 a0001c0001t0019g0053 a0001c0001t0005g0152 a0001c0001t0019g0053	2	336	0.0060	29	c.63+ others(46): Show c.63+16161_63+16162insATATATATATATATATTTTTTTTTTTTT T	UBE2K	ENSG00000078140.14	transcript	ENST00000261427.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
UBE2N_chr12_93400684_93446947	93406275	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0232 a0001c0001t0060g0232	1	372	0.0027	29	c.37 others(40): Show c.3735_*3763dupTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	UBE2N	ENSG00000177889.10	transcript	ENST00000318066.7	protein_coding	4/4	3763		chr12	TogoVar
UBE2T_chr1_202326657_202346936	202332907	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA20752.hp2 NA18962.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0070 a0001c0002t0001g0104 a0001c0002t0001g0070 a0001c0002t0001g0104	2	370	0.0054	29	c.468 others(43): Show c.468+74_468+102dupTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	UBE2T	ENSG00000077152.12	transcript	ENST00000646651.1	protein_coding	6/6			chr1	TogoVar
UBE2W_chr8_73781219_73883862	73805454	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAACAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0214 a0001c0001t0020g0214	1	266	0.0038	29	c.442 others(44): Show c.442+196_442+197insTTTTTTTTTTTTGTTTTTTTTTTTTTTTT	UBE2W	ENSG00000104343.21	transcript	ENST00000602593.6	protein_coding	5/5			chr8	TogoVar
UBE3A_chr15_25328728_25444024	25430027	C C	CTATATAT others(22): Show CTATATATATATAATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0112	1	298	0.0034	29	c.-16 others(48): Show c.-165+8461_-165+8462insTATATATATATATATATTATATATAT ATA	UBE3A	ENSG00000114062.22	transcript	ENST00000648336.2	protein_coding	1/12			chr15	TogoVar
UBE4B_chr1_10027958_10186239	10028343	A A	ACCCCTCC others(22): Show ACCCCTCCCCCTCCCCCTCCCCTCCCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01256.hp1 HG01258.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0008 a0001c0006t0008	a0001c0006t0008g0012 a0001c0006t0008g0013 a0001c0006t0008g0012 a0001c0006t0008g0013	2	222	0.0090	29	c.-53 others(40): Show c.-5328_-5327insCCCCTCCCCCTCCCCCTCCCCTCCCCCTC	UBE4B	ENSG00000130939.20	transcript	ENST00000343090.11	protein_coding		4614		chr1	TogoVar
UBR3_chr2_169822454_170089131	169831127	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0151 a0001c0002t0002g0151	1	324	0.0031	29	c.545 others(46): Show c.545+3076_545+3077insATATATATATATATATATATATATTTTT T	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR3_chr2_169822454_170089131	169831128	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG03491.hp2 NA19085.hp1 HG01106.hp1 HG03491.hp2 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0130 a0001c0002t0002g0132 a0001c0002t0002g0134 a0001c0002t0002g0130 a0001c0002t0002g0132 a0001c0002t0002g0134	3	324	0.0093	29	c.545 others(46): Show c.545+3076_545+3077insATATATATATATATATATATATATATAT A	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	1/38			chr2	TogoVar
UBR5_chr8_102247273_102417700	102297746	A A	ATGACATG others(22): Show ATGACATGCAAAGAAATCTAACCAACTCTC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	328	0.0031	29	c.342 others(46): Show c.3425-141_3425-140insGAGAGTTGGTTAGATTTCTTTGCATGTC A	UBR5	ENSG00000104517.13	transcript	ENST00000520539.6	protein_coding	26/58			chr8	TogoVar
UBR5_chr8_102247273_102417700	102387719	A A	AAATGGAA others(22): Show AAATGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0291 a0001c0003t0001g0291	1	328	0.0031	29	c.62+ others(46): Show c.62+24453_62+24454insCCTTCCTTCCTTCCTTCCTTCCTTCCAT T	UBR5	ENSG00000104517.13	transcript	ENST00000520539.6	protein_coding	1/58			chr8	TogoVar
UGCG_chr9_111891814_111940369	111921802	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0084 a0001c0002t0012g0084	1	424	0.0024	29	c.241 others(46): Show c.241-1021_241-1020insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	UGCG	ENSG00000148154.10	transcript	ENST00000374279.4	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
UGGT2_chr13_95796580_96058401	96054210	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG03130.hp1 HG03139.hp2 others(1): Show HG00558.hp1 HG03130.hp1 HG03139.hp2 NA18977.hp2	a0001 a0003 a0001 a0003	a0001c0005 a0003c0003 a0001c0005 a0003c0003	a0001c0005t0001 a0003c0003t0001 a0001c0005t0001 a0003c0003t0001	a0001c0005t0001g0226 a0001c0005t0001g0227 a0003c0003t0001g0254 others(1): Show a0001c0005t0001g0226 a0001c0005t0001g0227 a0003c0003t0001g0254 a0003c0003t0001g0272	4	332	0.0121	29	c.-89 others(38): Show c.-899_-898insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	UGGT2	ENSG00000102595.22	transcript	ENST00000376747.8	protein_coding		810		chr13	TogoVar
UGT1A10_chr2_233631448_233778300	233661623	T T	TTTTCTTT others(22): Show TTTTCTTTCTTTCTTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01071.hp2 NA19062.hp2 HG01071.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0189 a0001c0001t0001g0158 a0001c0001t0001g0189	2	302	0.0066	29	c.855 others(48): Show c.855+24261_855+24262insTCTTTCTTTCTTTCTTTCTTTCTTTC TTT	UGT1A10	ENSG00000242515.6	transcript	ENST00000344644.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A3_chr2_233724042_233778300	233725249	G G	GGGGGAGG others(22): Show GGGGGAGGGGGAGGGGGAGGGGGAGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0176 a0002c0002t0001g0176	1	350	0.0029	29	c.-38 others(40): Show c.-3878_-3877insGGGGAGGGGGAGGGGGAGGGGGAGGGGGA	UGT1A3	ENSG00000288702.1	transcript	ENST00000482026.6	protein_coding		3792		chr2	TogoVar
UGT1A4_chr2_233713736_233778300	233725249	G G	GGGGGAGG others(22): Show GGGGGAGGGGGAGGGGGAGGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	332	0.0030	29	c.867 others(46): Show c.867+5563_867+5564insGGGAGGGGGAGGGGGAGGGGGAGGGGGA G	UGT1A4	ENSG00000244474.6	transcript	ENST00000373409.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A5_chr2_233707907_233778300	233725249	G G	GGGGGAGG others(22): Show GGGGGAGGGGGAGGGGGAGGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	330	0.0030	29	c.867 others(48): Show c.867+11392_867+11393insGGGAGGGGGAGGGGGAGGGGGAGGGG GAG	UGT1A5	ENSG00000288705.1	transcript	ENST00000373414.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A7_chr2_233676901_233778300	233725249	G G	GGGGGAGG others(22): Show GGGGGAGGGGGAGGGGGAGGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	320	0.0031	29	c.856 others(48): Show c.856-41784_856-41783insGGGAGGGGGAGGGGGAGGGGGAGGGG GAG	UGT1A7	ENSG00000244122.3	transcript	ENST00000373426.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A8_chr2_233612633_233778300	233661623	T T	TTTTCTTT others(22): Show TTTTCTTTCTTTCTTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01071.hp2 NA19062.hp2 HG01071.hp2 NA19062.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0175 a0003c0005t0001g0001 a0001c0001t0001g0175 a0003c0005t0001g0001	2	290	0.0069	29	c.855 others(48): Show c.855+43076_855+43077insTCTTTCTTTCTTTCTTTCTTTCTTTC TTT	UGT1A8	ENSG00000242366.4	transcript	ENST00000373450.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A9_chr2_233666898_233778300	233725249	G G	GGGGGAGG others(22): Show GGGGGAGGGGGAGGGGGAGGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	318	0.0031	29	c.856 others(48): Show c.856-41784_856-41783insGGGAGGGGGAGGGGGAGGGGGAGGGG GAG	UGT1A9	ENSG00000241119.2	transcript	ENST00000354728.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT3A2_chr5_36030021_36071882	36067865	G G	GAGAGAGA others(22): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0055 a0001c0001t0013g0055	1	410	0.0024	29	c.-10 others(40): Show c.-1077_-1076insTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	UGT3A2	ENSG00000168671.10	transcript	ENST00000282507.8	protein_coding		984		chr5	TogoVar
UGT8_chr4_114593807_114683225	114597754	G G	GATATATA others(22): Show GATATATATATATATATATATGATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	280	0.0036	29	c.-12 others(40): Show c.-1223_-1222insATATATATATATATATATATGATATATAT	UGT8	ENSG00000174607.11	transcript	ENST00000310836.11	protein_coding		1052		chr4	TogoVar
UHRF1_chr19_4904501_4967154	4938730	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG03654.hp2 HG01981.hp2 HG03654.hp2	a0001 a0001	a0001c0012 a0001c0019 a0001c0012 a0001c0019	a0001c0012t0013 a0001c0019t0005 a0001c0012t0013 a0001c0019t0005	a0001c0012t0013g0217 a0001c0019t0005g0221 a0001c0012t0013g0217 a0001c0019t0005g0221	2	316	0.0063	29	c.786 others(46): Show c.786-2795_786-2767dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	UHRF1	ENSG00000276043.5	transcript	ENST00000650932.1	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
ULK1_chr12_131889622_131928150	131917306	G G	GTTCGGCT others(22): Show GTTCGGCTCGGAGGCTGTGGGATGGGGGTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG02258.hp1 others(6): Show HG01884.hp1 HG02109.hp2 HG02258.hp1 HG02572.hp1 HG03130.hp1 HG03490.hp1 HG03492.hp1 NA18964.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0003t0003 a0001c0003t0011	a0001c0001t0001g0182 a0001c0001t0002g0306 a0001c0002t0001g0081 others(6): Show a0001c0001t0001g0182 a0001c0001t0002g0306 a0001c0002t0001g0081 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0004g0083 a0001c0003t0003g0301 a0001c0003t0011g0235 a0001c0003t0011g0265	9	344	0.0262	29	c.218 others(46): Show c.2183-105_2183-104insTTCGGCTCGGAGGCTGTGGGATGGGGGT C	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27			chr12	TogoVar
ULK2_chr17_19765830_19872936	19814439	T T	TACATATA others(22): Show TACATATATATATATATATATACATATATA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0046 a0001c0003t0046	a0001c0003t0046g0063 a0001c0003t0046g0063	1	288	0.0035	29	c.109 others(48): Show c.1096+2309_1096+2310insTATATATGTATATATATATATATATA TGT	ULK2	ENSG00000083290.20	transcript	ENST00000395544.9	protein_coding	13/26			chr17	TogoVar
ULK4_chr3_41241599_41967103	41506764	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	72	0.0139	29	c.322 others(50): Show c.3227-43512_3227-43511insTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	32/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41506767	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAATATATATATAAATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0023 a0007c0007t0001g0023	1	72	0.0139	29	c.322 others(50): Show c.3227-43515_3227-43514insATATATTTATATATATATTTTTTT TTTTT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	32/36			chr3	TogoVar
UMAD1_chr7_7635752_7884223	7679414	A A	ATATATTT others(22): Show ATATATTTAATTTATAGATAAATATATATT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0018 a0001c0001t0028g0018	1	250	0.0040	29	c.82+ others(44): Show c.82+5967_82+5995dupTTAATTTATAGATAAATATATATTTATAT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7789349	T T	TTATTGTT others(22): Show TTATTGTTAGTAATATATAATAAGTTATAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp2 HG02451.hp2 others(10): Show HG02109.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02630.hp1 HG02723.hp2 HG02895.hp1 HG03130.hp1 HG03209.hp1 NA19030.hp1 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0015 a0001c0001t0022 a0001c0001t0028 a0001c0001t0032 a0001c0001t0053 a0001c0001t0055 a0001c0001t0061 a0001c0001t0075 a0001c0001t0079	a0001c0001t0001g0114 a0001c0001t0002g0014 a0001c0001t0003g0238 others(10): Show a0001c0001t0001g0114 a0001c0001t0002g0014 a0001c0001t0003g0238 a0001c0001t0008g0155 a0001c0001t0015g0112 a0001c0001t0022g0239 a0001c0001t0028g0041 a0001c0001t0032g0113 a0001c0001t0053g0020 a0001c0001t0055g0231 a0001c0001t0061g0152 a0001c0001t0075g0016 a0001c0001t0079g0150	13	250	0.0520	29	c.83- others(46): Show c.83-12321_83-12320insTATTGTTAGTAATATATAATAAGTTATA A	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3			chr7	TogoVar
UNC13B_chr9_35157009_35410335	35232177	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02165.hp1 HG03688.hp1 others(4): Show HG02080.hp1 HG02165.hp1 HG03688.hp1 HG03927.hp1 NA18612.hp2 NA18955.hp2 NA19062.hp2	a0001 a0003 a0017 others(1): Show a0001 a0003 a0017 a0020	a0001c0001 a0003c0002 a0017c0048 others(1): Show a0001c0001 a0003c0002 a0017c0048 a0020c0044	a0001c0001t0001 a0003c0002t0001 a0017c0048t0001 others(1): Show a0001c0001t0001 a0003c0002t0001 a0017c0048t0001 a0020c0044t0001	a0001c0001t0001g0115 a0001c0001t0001g0216 a0001c0001t0001g0218 others(4): Show a0001c0001t0001g0115 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0221 a0003c0002t0001g0147 a0017c0048t0001g0224 a0020c0044t0001g0150	7	224	0.0313	29	c.152 others(44): Show c.152+979_152+980insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	3/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13C_chr15_53973441_54633605	54038124	A A	ATATATAA others(22): Show ATATATAAAAATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	158	0.0063	29	c.298 others(50): Show c.2983+22239_2983+22240insATATAAAAATTTTTTTTTTTTTTT TTTTT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54132074	C C	CTTTTTTT others(22): Show CTTTTTTTTTCTTTTTCTTTTTCTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0035 a0007c0010t0035	a0007c0010t0035g0140 a0007c0010t0035g0140	1	158	0.0063	29	c.298 others(50): Show c.2984-10935_2984-10934insCTTTTTCTTTTTCTTTTTTTTTTT TTTTT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr15	TogoVar

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