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
TUB_chr11_8076211_8111243	8105684	TTCATCAC others(14): Show TTCATCACTACCTTTATAGCTC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp2 HG02486.hp2 NA18983.hp2 HG02109.hp2 HG02486.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0044 a0001c0002t0097 a0001c0001t0044 a0001c0002t0097	a0001c0001t0044g0204 a0001c0001t0044g0306 a0001c0002t0097g0082 a0001c0001t0044g0204 a0001c0001t0044g0306 a0001c0002t0097g0082	3	456	0.0066	-21	c.40 others(32): Show c.4087_*4107delTCATCACTACCTTTATAGCTC	TUB	ENSG00000166402.9	transcript	ENST00000299506.3	protein_coding	12/12	4087	INFO_REALIGN_3_PRIME	chr11	TogoVar
TULP1_chr6_35492874_35517896	35500977	CCAGCAGG others(14): Show CCAGCAGGGAAGGATGTGTGAT	C C	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG03017.hp2 HG03710.hp2 others(9): Show HG02155.hp2 HG03017.hp2 HG03710.hp2 HG04115.hp2 NA18939.hp1 NA18956.hp2 NA18960.hp2 NA18964.hp2 NA18992.hp1 NA19010.hp2 NA19030.hp2 NA19058.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0012 a0001c0001 a0006c0012	a0001c0001t0001 a0006c0012t0001 a0001c0001t0001 a0006c0012t0001	a0001c0001t0001g0017 a0001c0001t0001g0031 a0001c0001t0001g0047 others(5): Show a0001c0001t0001g0017 a0001c0001t0001g0031 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0117 a0001c0001t0001g0126 a0006c0012t0001g0050	12	414	0.0290	-21	c.132 others(38): Show c.1324-846_1324-826delATCACACATCCTTCCCTGCTG	TULP1	ENSG00000112041.13	transcript	ENST00000229771.11	protein_coding	13/14			chr6	TogoVar
TULP2_chr19_48875967_48903744	48882248	AACTCCAT others(14): Show AACTCCATCTTGAACAGGGGCG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0215 a0001c0001t0002g0215	1	364	0.0028	-21	c.127 others(36): Show c.1276-66_1276-46delCGCCCCTGTTCAAGATGGAGT	TULP2	ENSG00000104804.9	transcript	ENST00000221399.8	protein_coding	11/12			chr19	TogoVar
TULP3_chr12_2885891_2946138	2911664	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG01109.hp1 others(25): Show HG00099.hp1 HG00099.hp2 HG01109.hp1 HG01361.hp2 HG01515.hp1 HG02129.hp1 HG04199.hp2 NA18944.hp2 NA18945.hp2 NA18952.hp1 NA18964.hp1 NA18967.hp1 NA18971.hp1 NA18973.hp1 NA18979.hp1 NA18982.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18991.hp2 NA18995.hp1 NA19002.hp2 NA19054.hp2 NA19056.hp2 NA19058.hp1 NA19064.hp2 NA19065.hp2 NA19090.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004	a0001c0001t0002 a0001c0002t0003 a0001c0002t0010 others(2): Show a0001c0001t0002 a0001c0002t0003 a0001c0002t0010 a0002c0003t0005 a0003c0004t0003	a0001c0001t0002g0071 a0001c0001t0002g0116 a0001c0002t0003g0150 others(25): Show a0001c0001t0002g0071 a0001c0001t0002g0116 a0001c0002t0003g0150 a0001c0002t0003g0153 a0001c0002t0003g0156 a0001c0002t0003g0159 a0001c0002t0003g0161 a0001c0002t0003g0162 a0001c0002t0003g0167 a0001c0002t0003g0169 a0001c0002t0003g0170 a0001c0002t0003g0171 a0001c0002t0003g0172 a0001c0002t0003g0187 a0001c0002t0003g0197 a0001c0002t0003g0207 a0001c0002t0003g0208 a0001c0002t0003g0210 a0001c0002t0003g0214 a0001c0002t0003g0215 a0001c0002t0003g0216 a0001c0002t0003g0217 a0001c0002t0003g0220 a0001c0002t0010g0145 a0002c0003t0005g0132 a0003c0004t0003g0146 a0003c0004t0003g0158 a0003c0004t0003g0168	28	372	0.0753	-21	c.93+ others(36): Show c.93+2107_93+2127delTTTTTTTTTTTTTTTTTTTTT	TULP3	ENSG00000078246.17	transcript	ENST00000448120.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
TULP4_chr6_158307465_158516828	158332185	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA19068.hp2 HG03471.hp2 NA19068.hp2	a0001 a0001	a0001c0004 a0001c0017 a0001c0004 a0001c0017	a0001c0004t0011 a0001c0017t0091 a0001c0004t0011 a0001c0017t0091	a0001c0004t0011g0202 a0001c0017t0091g0178 a0001c0004t0011g0202 a0001c0017t0091g0178	2	268	0.0075	-21	c.252 others(40): Show c.252+17919_252+17939delAAAAAAAAAAAAAAATATATA	TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
TULP4_chr6_158307465_158516828	158332187	AAAAAAAA others(14): Show AAAAAAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00639.hp2 others(11): Show HG00099.hp1 HG00099.hp2 HG00639.hp2 HG00642.hp1 HG01175.hp2 HG01258.hp1 HG01515.hp2 HG01975.hp1 HG02300.hp2 HG03017.hp2 HG04199.hp2 NA18971.hp1 NA19030.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006	a0001c0001t0006 a0001c0001t0034 a0001c0001t0092 others(5): Show a0001c0001t0006 a0001c0001t0034 a0001c0001t0092 a0001c0002t0035 a0001c0004t0009 a0001c0004t0011 a0001c0004t0035 a0001c0006t0021	a0001c0001t0006g0185 a0001c0001t0006g0186 a0001c0001t0006g0194 others(11): Show a0001c0001t0006g0185 a0001c0001t0006g0186 a0001c0001t0006g0194 a0001c0001t0006g0198 a0001c0001t0006g0199 a0001c0001t0006g0207 a0001c0001t0034g0197 a0001c0001t0092g0214 a0001c0002t0035g0188 a0001c0004t0009g0153 a0001c0004t0011g0195 a0001c0004t0011g0201 a0001c0004t0035g0196 a0001c0006t0021g0208	14	268	0.0522	-21	c.252 others(40): Show c.252+17921_252+17941delAAAAAAAAAAAAATATATATA	TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
TULP4_chr6_158307465_158516828	158332189	AAAAAAAA others(14): Show AAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0187 a0001c0001t0006g0187	1	268	0.0037	-21	c.252 others(40): Show c.252+17923_252+17943delAAAAAAAAAAATATATATATA	TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
TULP4_chr6_158307465_158516828	158427471	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01884.hp2 HG02055.hp2 others(1): Show HG01515.hp1 HG01884.hp2 HG02055.hp2 NA19062.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0015 a0001c0002 a0001c0005 a0001c0015	a0001c0002t0001 a0001c0005t0012 a0001c0015t0032 others(1): Show a0001c0002t0001 a0001c0005t0012 a0001c0015t0032 a0001c0015t0084	a0001c0002t0001g0017 a0001c0005t0012g0240 a0001c0015t0032g0001 others(1): Show a0001c0002t0001g0017 a0001c0005t0012g0240 a0001c0015t0032g0001 a0001c0015t0084g0002	4	268	0.0149	-21	c.382 others(38): Show c.382-2244_382-2224delTTTTTTTTTTTTTTTTTTTTT	TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
TUSC3_chr8_15535263_15771638	15719495	TCACACAC others(14): Show TCACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02280.hp2 HG02622.hp2 others(13): Show HG01433.hp1 HG02280.hp2 HG02622.hp2 HG02630.hp2 HG02809.hp2 HG02922.hp2 HG03139.hp2 HG03453.hp2 HG04199.hp1 NA18956.hp2 NA18980.hp1 NA18994.hp2 NA19009.hp2 NA19043.hp1 NA19043.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0020 a0001c0001t0028 a0001c0001t0034	a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0187 others(13): Show a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0264 a0001c0001t0001g0298 a0001c0001t0002g0108 a0001c0001t0003g0029 a0001c0001t0007g0106 a0001c0001t0007g0107 a0001c0001t0008g0109 a0001c0001t0008g0159 a0001c0001t0008g0160 a0001c0001t0020g0156 a0001c0001t0020g0157 a0001c0001t0028g0370 a0001c0001t0034g0182	16	372	0.0430	-21	c.799 others(40): Show c.799-11149_799-11129delCACACACACACACACACACAC	TUSC3	ENSG00000104723.21	transcript	ENST00000503731.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
TWIST2_chr2_238843085_238915534	238846028	GGAGAAAG others(14): Show GGAGAAAGAGACAGAAAGGACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0307 a0001c0001t0002g0307	1	338	0.0030	-21	c.-21 others(32): Show c.-2187_-2167delGAGAAAGAGACAGAAAGGACA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding		2056		chr2	TogoVar
TWIST2_chr2_238843085_238915534	238869304	TCTCTCAA others(14): Show TCTCTCAATAAAACTTCCAGGG	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	338	0.0030	-21	c.35 others(40): Show c.35+20573_*35+20593delTCTCAATAAAACTTCCAGGGC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238911895	CGCACACA others(14): Show CGCACACACCACACACACGCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03654.hp2 HG03710.hp2 HG03017.hp2 HG03654.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0165 a0001c0001t0002g0243 a0001c0001t0002g0259 a0001c0001t0002g0165 a0001c0001t0002g0243 a0001c0001t0002g0259	3	338	0.0089	-21	c.20 others(32): Show c.2090_*2110delGCACACACCACACACACGCAT	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding		1362		chr2	TogoVar
TXNDC16_chr14_52425596_52557505	52553246	CGCTGCAG others(14): Show CGCTGCAGCCTCAGGCGCCGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0147 a0001c0001t0014g0147	1	238	0.0042	-21	c.-11 others(32): Show c.-1133_-1113delCGCGGCGCCTGAGGCTGCAGC	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding		742		chr14	TogoVar
TXNDC8_chr9_110298476_110342863	110305549	TCTTTCTT others(14): Show TCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	416	0.0024	-21	c.196 others(38): Show c.196-1038_196-1018delGAAAGAAAGAAAGAAAGAAAG	TXNDC8	ENSG00000204193.12	transcript	ENST00000423740.7	protein_coding	3/4			chr9	TogoVar
TYSND1_chr10_70132981_70151700	70133097	AAAGAGAG others(14): Show AAAGAGAGAGAGAGAGAGAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0001 a0002c0001t0001g0001	1	458	0.0022	-21	c.68 others(32): Show c.6806_*6826delCTCTCTCTCTCTCTCTCTCTT	TYSND1	ENSG00000156521.14	transcript	ENST00000287078.7	protein_coding		4883		chr10	TogoVar
TYSND1_chr10_70132981_70151700	70133131	AGAGAGAG others(14): Show AGAGAGAGAGAGAGAGAGAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00741.hp2 HG01261.hp2 others(3): Show HG00280.hp1 HG00741.hp2 HG01261.hp2 HG03688.hp1 NA18980.hp1 NA20752.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0002c0001 a0005c0007 a0001c0002 a0002c0001 a0005c0007	a0001c0002t0005 a0002c0001t0001 a0005c0007t0006 a0001c0002t0005 a0002c0001t0001 a0005c0007t0006	a0001c0002t0005g0027 a0001c0002t0005g0030 a0002c0001t0001g0001 others(1): Show a0001c0002t0005g0027 a0001c0002t0005g0030 a0002c0001t0001g0001 a0005c0007t0006g0023	6	458	0.0131	-21	c.67 others(32): Show c.6772_*6792delCTCTCTCTCTCTCTCTCTCTC	TYSND1	ENSG00000156521.14	transcript	ENST00000287078.7	protein_coding		4849		chr10	TogoVar
TYW1B_chr7_72569513_72833200	72622691	GCACACAA others(14): Show GCACACAACACACACATGCACA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02630.hp1 HG02809.hp1 others(1): Show HG02055.hp2 HG02630.hp1 HG02809.hp1 HG02895.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0191 a0001c0006t0001g0197 a0001c0006t0001g0198 others(1): Show a0001c0006t0001g0191 a0001c0006t0001g0197 a0001c0006t0001g0198 a0001c0006t0001g0199	4	286	0.0140	-21	c.161 others(40): Show c.1618-5873_1618-5853delTGTGCATGTGTGTGTTGTGTG	TYW1B	ENSG00000277149.5	transcript	ENST00000620995.5	protein_coding	12/13			chr7	TogoVar
TYW1B_chr7_72569513_72833200	72687875	CAAGAACC others(14): Show CAAGAACCCATCTCTCAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	286	0.0035	-21	c.150 others(40): Show c.1506+6791_1506+6811delTTTTTTGAGAGATGGGTTCTT	TYW1B	ENSG00000277149.5	transcript	ENST00000620995.5	protein_coding	11/13			chr7	TogoVar
TYW1_chr7_66991833_67244514	67113237	ACTCTCAT others(14): Show ACTCTCATCCATCTTCTGTTCC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG01069.hp1 others(69): Show HG00323.hp1 HG00642.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp1 HG01175.hp1 HG01243.hp1 HG01255.hp2 HG01346.hp1 HG01358.hp2 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG02109.hp1 HG02165.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18946.hp2 NA18957.hp1 NA18970.hp1 NA18975.hp1 NA18981.hp2 NA18985.hp1 NA18990.hp1 NA18994.hp2 NA19030.hp1 NA19043.hp2 NA19058.hp1 NA19077.hp2 NA19086.hp1 NA19087.hp2 NA19240.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0008 a0010 a0011	a0001c0001 a0001c0021 a0002c0003 others(6): Show a0001c0001 a0001c0021 a0002c0003 a0002c0004 a0004c0006 a0004c0011 a0008c0009 a0010c0012 a0011c0020	a0001c0001t0001 a0001c0021t0001 a0002c0003t0002 others(9): Show a0001c0001t0001 a0001c0021t0001 a0002c0003t0002 a0002c0003t0004 a0002c0003t0013 a0002c0004t0002 a0002c0004t0004 a0004c0006t0005 a0004c0011t0005 a0008c0009t0004 a0010c0012t0002 a0011c0020t0008	a0001c0001t0001g0125 a0001c0001t0001g0208 a0001c0001t0001g0233 others(69): Show a0001c0001t0001g0125 a0001c0001t0001g0208 a0001c0001t0001g0233 a0001c0021t0001g0209 a0002c0003t0002g0123 a0002c0003t0002g0124 a0002c0003t0002g0210 a0002c0003t0002g0211 a0002c0003t0002g0214 a0002c0003t0002g0215 a0002c0003t0002g0220 a0002c0003t0002g0221 a0002c0003t0002g0223 a0002c0003t0002g0224 a0002c0003t0002g0225 a0002c0003t0002g0226 a0002c0003t0002g0228 a0002c0003t0002g0229 a0002c0003t0002g0230 a0002c0003t0002g0234 a0002c0003t0002g0235 a0002c0003t0002g0240 a0002c0003t0002g0241 a0002c0003t0002g0242 a0002c0003t0002g0243 a0002c0003t0002g0244 a0002c0003t0002g0245 a0002c0003t0002g0246 a0002c0003t0002g0247 a0002c0003t0002g0248 a0002c0003t0002g0249 a0002c0003t0002g0251 a0002c0003t0002g0252 a0002c0003t0002g0254 a0002c0003t0002g0255 a0002c0003t0002g0363 a0002c0003t0004g0172 a0002c0003t0004g0205 a0002c0003t0004g0206 a0002c0003t0004g0207 a0002c0003t0013g0219 a0002c0004t0002g0358 a0002c0004t0004g0282 a0002c0004t0004g0287 a0002c0004t0004g0288 a0002c0004t0004g0290 a0002c0004t0004g0291 a0002c0004t0004g0292 a0002c0004t0004g0293 a0002c0004t0004g0295 a0002c0004t0004g0296 a0002c0004t0004g0297 a0002c0004t0004g0298 a0002c0004t0004g0299 a0002c0004t0004g0300 a0002c0004t0004g0355 a0002c0004t0004g0356 a0002c0004t0004g0357 a0002c0004t0004g0360 a0002c0004t0004g0361 a0002c0004t0004g0362 a0004c0006t0005g0008 a0004c0006t0005g0107 a0004c0006t0005g0108 a0004c0006t0005g0222 a0004c0006t0005g0236 a0004c0006t0005g0250 a0004c0006t0005g0364 a0004c0011t0005g0354 a0008c0009t0004g0294 a0010c0012t0002g0227 a0011c0020t0008g0213	72	364	0.1978	-21	c.156 others(40): Show c.1563-4242_1563-4222delTCATCCATCTTCTGTTCCCTC	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
TYW1_chr7_66991833_67244514	67243391	ATATATAT others(14): Show ATATATATATATATATATTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0115 a0001c0001t0003g0115	1	364	0.0028	-21	c.48 others(32): Show c.4863_*4883delTATATATATATATATATTTTT	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding		3878		chr7	TogoVar
U2AF2_chr19_55650035_55679716	55663146	TTCTGAGC others(14): Show TTCTGAGCACTCCCTCTCACTG	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01256.hp2 HG01258.hp2 others(4): Show HG00423.hp2 HG01256.hp2 HG01258.hp2 NA18967.hp2 NA18971.hp1 NA19003.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0187 a0001c0001t0001g0188 others(3): Show a0001c0001t0001g0037 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345	7	394	0.0178	-21	c.604 others(36): Show c.604-439_604-419delGTCTGAGCACTCCCTCTCACT	U2AF2	ENSG00000063244.14	transcript	ENST00000308924.9	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
U2SURP_chr3_142996570_143065725	143060761	TCCTTTTT others(14): Show TCCTTTTTTAAAAGTTATTTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0265 a0001c0001t0003g0265	1	378	0.0027	-21	c.43 others(32): Show c.4312_*4332delCCTTTTTTAAAAGTTATTTTA	U2SURP	ENSG00000163714.18	transcript	ENST00000473835.7	protein_coding		37		chr3	TogoVar
UAP1_chr1_162556722_162606240	162596910	CTTTTGTG others(14): Show CTTTTGTGTTAGATAACTTAGA	C C	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	412	0.0024	-21	c.141 others(38): Show c.1410-881_1410-861delTTTTGTGTTAGATAACTTAGA	UAP1	ENSG00000117143.14	transcript	ENST00000367925.6	protein_coding	9/10			chr1	TogoVar
UBA6_chr4_67607652_67706155	67686952	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG00558.hp1 others(55): Show HG00323.hp1 HG00423.hp2 HG00558.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00738.hp1 HG01099.hp1 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01255.hp2 HG01258.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG02040.hp1 HG02080.hp1 HG02165.hp1 HG02257.hp1 HG02922.hp1 HG03017.hp1 HG03195.hp2 HG03225.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03831.hp2 HG03942.hp2 NA18906.hp1 NA18942.hp2 NA18945.hp2 NA18946.hp2 NA18949.hp1 NA18951.hp2 NA18953.hp1 NA18954.hp2 NA18960.hp2 NA18965.hp1 NA18977.hp2 NA18979.hp1 NA18988.hp2 NA18990.hp1 NA18993.hp2 NA18995.hp2 NA18997.hp1 NA19005.hp1 NA19057.hp1 NA19066.hp2 NA19067.hp2 NA19075.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19086.hp2 NA19090.hp1 NA20300.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0002c0004 a0002c0010 others(1): Show a0002c0003 a0002c0004 a0002c0010 a0003c0005	a0002c0003t0002 a0002c0003t0006 a0002c0003t0014 others(7): Show a0002c0003t0002 a0002c0003t0006 a0002c0003t0014 a0002c0003t0018 a0002c0003t0019 a0002c0003t0026 a0002c0004t0011 a0002c0010t0018 a0003c0005t0002 a0003c0005t0014	a0002c0003t0002g0003 a0002c0003t0002g0016 a0002c0003t0002g0018 others(46): Show a0002c0003t0002g0003 a0002c0003t0002g0016 a0002c0003t0002g0018 a0002c0003t0002g0252 a0002c0003t0002g0254 a0002c0003t0002g0258 a0002c0003t0002g0259 a0002c0003t0002g0263 a0002c0003t0002g0265 a0002c0003t0002g0267 a0002c0003t0002g0268 a0002c0003t0002g0269 a0002c0003t0002g0270 a0002c0003t0002g0273 a0002c0003t0002g0274 a0002c0003t0002g0275 a0002c0003t0002g0276 a0002c0003t0002g0277 a0002c0003t0002g0280 a0002c0003t0002g0281 a0002c0003t0002g0283 a0002c0003t0002g0287 a0002c0003t0002g0291 a0002c0003t0002g0292 a0002c0003t0002g0293 a0002c0003t0002g0294 a0002c0003t0002g0295 a0002c0003t0002g0298 a0002c0003t0006g0001 a0002c0003t0006g0017 a0002c0003t0006g0256 a0002c0003t0006g0264 a0002c0003t0006g0271 a0002c0003t0006g0284 a0002c0003t0006g0285 a0002c0003t0006g0288 a0002c0003t0006g0290 a0002c0003t0006g0297 a0002c0003t0014g0260 a0002c0003t0014g0266 a0002c0003t0018g0262 a0002c0003t0019g0253 a0002c0003t0019g0255 a0002c0003t0026g0289 a0002c0004t0011g0030 a0002c0010t0018g0261 a0003c0005t0002g0019 a0003c0005t0002g0272 a0003c0005t0014g0282	58	324	0.1790	-21	c.135 others(38): Show c.135-4760_135-4740delTTTTTTTTTTTTTTTTTTTTT	UBA6	ENSG00000033178.13	transcript	ENST00000322244.10	protein_coding	2/32			chr4	TogoVar
UBALD1_chr16_4603884_4619888	4611534	CACAGGCA others(14): Show CACAGGCAGGGACTGCTGTCTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0032 a0001c0003t0001g0032	1	340	0.0029	-21	c.121 others(37): Show c.121-1000_121-980delAAGACAGCAGTCCCTGCCTGT	UBALD1	ENSG00000153443.13	transcript	ENST00000283474.12	protein_coding	1/2			chr16	TogoVar
UBAP1_chr9_34174043_34257523	34210725	AAAAAAAA others(14): Show AAAAAAAAAATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0182 a0001c0001t0003g0182	1	342	0.0029	-21	c.-7- others(38): Show c.-7-10181_-7-10161delAAAAAAAATTTTTTTTTTTTA	UBAP1	ENSG00000165006.14	transcript	ENST00000297661.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
UBAP1_chr9_34174043_34257523	34218250	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01981.hp2 HG02056.hp1 others(15): Show HG01952.hp2 HG01981.hp2 HG02056.hp1 HG02738.hp1 HG03516.hp2 NA18940.hp1 NA18941.hp1 NA18943.hp2 NA18949.hp2 NA18957.hp1 NA18960.hp2 NA18998.hp1 NA19005.hp2 NA19010.hp1 NA19030.hp2 NA19067.hp1 NA19077.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0005t0002	a0001c0001t0001g0037 a0001c0001t0001g0117 a0001c0001t0001g0132 others(15): Show a0001c0001t0001g0037 a0001c0001t0001g0117 a0001c0001t0001g0132 a0001c0001t0001g0146 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0225 a0001c0001t0002g0230 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0245 a0001c0001t0002g0247 a0001c0001t0002g0255 a0001c0001t0005g0160 a0001c0001t0005g0162 a0001c0005t0002g0254	18	342	0.0526	-21	c.-7- others(36): Show c.-7-2634_-7-2614delAAAAAAAAAAAAAAAAAAAAA	UBAP1	ENSG00000165006.14	transcript	ENST00000297661.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
UBAP2_chr9_33916693_34053887	33978164	AATCAGCA others(14): Show AATCAGCATTTTATTAAATGCT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00738.hp2 others(11): Show HG00099.hp2 HG00140.hp1 HG00738.hp2 HG01167.hp2 HG01257.hp2 HG01515.hp1 HG01975.hp1 HG02145.hp2 HG02735.hp1 HG03490.hp2 HG03492.hp1 HG03654.hp2 HG03927.hp2 NA20805.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0228 a0002c0001t0004g0229 a0002c0001t0004g0230 others(11): Show a0002c0001t0004g0228 a0002c0001t0004g0229 a0002c0001t0004g0230 a0002c0001t0004g0231 a0002c0001t0004g0232 a0002c0001t0004g0233 a0002c0001t0004g0234 a0002c0001t0004g0235 a0002c0001t0004g0236 a0002c0001t0004g0237 a0002c0001t0004g0238 a0002c0001t0004g0239 a0002c0001t0004g0240 a0002c0001t0004g0241	14	356	0.0393	-21	c.521 others(38): Show c.521-4948_521-4928delAGCATTTAATAAAATGCTGAT	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	6/28			chr9	TogoVar
UBAP2_chr9_33916693_34053887	33995376	AATATATA others(14): Show AATATATATATTAAATATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00673.hp2 HG01993.hp2 others(31): Show HG00438.hp1 HG00673.hp2 HG01993.hp2 HG02129.hp2 HG02135.hp2 HG02148.hp1 HG03491.hp2 HG03492.hp2 NA18943.hp2 NA18953.hp2 NA18960.hp1 NA18961.hp2 NA18964.hp1 NA18970.hp2 NA18973.hp2 NA18979.hp2 NA18983.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA19001.hp1 NA19004.hp1 NA19005.hp1 NA19010.hp2 NA19011.hp2 NA19063.hp2 NA19065.hp2 NA19067.hp2 NA19077.hp2 NA19079.hp1 NA19082.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0003 a0002c0001t0003g0007 a0002c0001t0003g0012 others(31): Show a0002c0001t0003g0003 a0002c0001t0003g0007 a0002c0001t0003g0012 a0002c0001t0003g0013 a0002c0001t0003g0014 a0002c0001t0003g0015 a0002c0001t0003g0016 a0002c0001t0003g0017 a0002c0001t0003g0018 a0002c0001t0003g0019 a0002c0001t0003g0020 a0002c0001t0003g0021 a0002c0001t0003g0022 a0002c0001t0003g0023 a0002c0001t0003g0024 a0002c0001t0003g0025 a0002c0001t0003g0026 a0002c0001t0003g0027 a0002c0001t0003g0028 a0002c0001t0003g0029 a0002c0001t0003g0030 a0002c0001t0003g0031 a0002c0001t0003g0032 a0002c0001t0003g0033 a0002c0001t0003g0034 a0002c0001t0003g0035 a0002c0001t0003g0036 a0002c0001t0003g0037 a0002c0001t0003g0038 a0002c0001t0003g0039 a0002c0001t0003g0040 a0002c0001t0003g0041 a0002c0001t0003g0042 a0002c0001t0003g0043	34	356	0.0955	-21	c.288 others(36): Show c.288+826_288+846delATTTATATTTAATATATATAT	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	4/28			chr9	TogoVar
UBAP2_chr9_33916693_34053887	34016364	CAGCGGCG others(14): Show CAGCGGCGGTGGTGGTGGTGGT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp2 HG01167.hp2 others(9): Show HG00140.hp1 HG00738.hp2 HG01167.hp2 HG01257.hp2 HG01515.hp1 HG01975.hp1 HG02145.hp2 HG02735.hp1 HG03490.hp2 HG03492.hp1 HG03927.hp2 NA20805.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0228 a0002c0001t0004g0229 a0002c0001t0004g0230 others(9): Show a0002c0001t0004g0228 a0002c0001t0004g0229 a0002c0001t0004g0230 a0002c0001t0004g0231 a0002c0001t0004g0232 a0002c0001t0004g0233 a0002c0001t0004g0234 a0002c0001t0004g0235 a0002c0001t0004g0236 a0002c0001t0004g0239 a0002c0001t0004g0240 a0002c0001t0004g0241	12	356	0.0337	-21	c.99+ others(34): Show c.99+665_99+685delACCACCACCACCACCGCCGCT	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	2/28			chr9	TogoVar
UBAP2_chr9_33916693_34053887	34016370	CGGTGGTG others(14): Show CGGTGGTGGTGGTGGTGGTGGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0238 a0002c0001t0004g0238	1	356	0.0028	-21	c.99+ others(34): Show c.99+659_99+679delACCACCACCACCACCACCACC	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	2/28			chr9	TogoVar
UBAP2_chr9_33916693_34053887	34027187	ATCTGAGG others(14): Show ATCTGAGGCCAAGGCCAGGTAC	A A	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0151 a0001c0002t0001g0151	1	356	0.0028	-21	c.-41 others(39): Show c.-41-10019_-41-9999delGTACCTGGCCTTGGCCTCAGA	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	1/28			chr9	TogoVar
UBASH3A_chr21_42398902_42452684	42399354	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00738.hp2 HG01109.hp1 others(4): Show HG00735.hp1 HG00738.hp2 HG01109.hp1 HG01175.hp1 HG01978.hp1 HG03654.hp1 NA18960.hp2	a0001 a0002 a0001 a0002	a0001c0013 a0002c0010 a0001c0013 a0002c0010	a0001c0013t0002 a0002c0010t0001 a0002c0010t0002 a0001c0013t0002 a0002c0010t0001 a0002c0010t0002	a0001c0013t0002g0012 a0002c0010t0001g0315 a0002c0010t0001g0316 others(4): Show a0001c0013t0002g0012 a0002c0010t0001g0315 a0002c0010t0001g0316 a0002c0010t0001g0318 a0002c0010t0001g0320 a0002c0010t0001g0321 a0002c0010t0002g0043	7	408	0.0172	-21	c.-45 others(32): Show c.-4591_-4571delAAAAAAAAAAAAAAAAAAAAA	UBASH3A	ENSG00000160185.15	transcript	ENST00000319294.11	protein_coding		4547		chr21	TogoVar
UBE2B_chr5_134366569_134397108	134371473	TCGGCGGC others(14): Show TCGGCGGCGGCGGCGGCGGCGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0237 a0001c0001t0002g0237	1	282	0.0036	-21	c.-12 others(30): Show c.-122_-102delCGGCGGCGGCGGCGGCGGCGG	UBE2B	ENSG00000119048.9	transcript	ENST00000265339.7	protein_coding		95		chr5	TogoVar
UBE2E1_chr3_23800955_23896640	23835438	GCCTGAGC others(14): Show GCCTGAGCCACAGAACAAGACC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	370	0.0027	-21	c.203 others(40): Show c.203+23929_203+23949delCCTGAGCCACAGAACAAGACC	UBE2E1	ENSG00000170142.12	transcript	ENST00000306627.8	protein_coding	3/5			chr3	TogoVar
UBE2E2_chr3_23198327_23596794	23455034	CAGGTCTC others(14): Show CAGGTCTCTGCATGACAAGAAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00408.hp2 others(53): Show HG00140.hp1 HG00323.hp1 HG00408.hp2 HG00544.hp1 HG00621.hp2 HG00673.hp1 HG01081.hp1 HG01169.hp2 HG01175.hp1 HG01255.hp1 HG01257.hp1 HG01433.hp2 HG02132.hp2 HG02145.hp1 HG02257.hp1 HG02523.hp1 HG02809.hp2 HG02970.hp1 HG03017.hp1 HG03195.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03654.hp1 HG03688.hp1 HG03834.hp2 HG03942.hp1 HG04228.hp2 NA18612.hp2 NA18943.hp2 NA18945.hp1 NA18948.hp2 NA18952.hp2 NA18955.hp2 NA18957.hp2 NA18960.hp2 NA18962.hp1 NA18965.hp1 NA18975.hp1 NA18978.hp2 NA18982.hp1 NA18985.hp1 NA18988.hp1 NA18994.hp1 NA19005.hp1 NA19011.hp2 NA19055.hp1 NA19066.hp1 NA19083.hp2 NA19085.hp2 NA19088.hp1 NA20129.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(10): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0024 a0001c0001t0025 a0001c0001t0034	a0001c0001t0001g0218 a0001c0001t0001g0284 a0001c0001t0001g0285 others(53): Show a0001c0001t0001g0218 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0004g0254 a0001c0001t0004g0279 a0001c0001t0004g0295 a0001c0001t0004g0296 a0001c0001t0004g0297 a0001c0001t0004g0298 a0001c0001t0004g0299 a0001c0001t0004g0300 a0001c0001t0004g0301 a0001c0001t0004g0302 a0001c0001t0004g0303 a0001c0001t0004g0304 a0001c0001t0004g0305 a0001c0001t0004g0306 a0001c0001t0004g0307 a0001c0001t0004g0308 a0001c0001t0004g0309 a0001c0001t0004g0323 a0001c0001t0004g0327 a0001c0001t0004g0328 a0001c0001t0004g0329 a0001c0001t0004g0330 a0001c0001t0004g0332 a0001c0001t0004g0333 a0001c0001t0006g0324 a0001c0001t0007g0283 a0001c0001t0007g0294 a0001c0001t0007g0319 a0001c0001t0007g0320 a0001c0001t0007g0321 a0001c0001t0007g0322 a0001c0001t0007g0325 a0001c0001t0007g0335 a0001c0001t0008g0140 a0001c0001t0011g0290 a0001c0001t0011g0310 a0001c0001t0011g0312 a0001c0001t0011g0314 a0001c0001t0011g0315 a0001c0001t0011g0316 a0001c0001t0013g0255 a0001c0001t0013g0326 a0001c0001t0013g0331 a0001c0001t0016g0288 a0001c0001t0017g0334 a0001c0001t0020g0289 a0001c0001t0020g0318 a0001c0001t0024g0231 a0001c0001t0024g0237 a0001c0001t0025g0242 a0001c0001t0034g0189	56	336	0.1667	-21	c.228 others(40): Show c.228-44571_228-44551delGTCTCTGCATGACAAGAATAG	UBE2E2	ENSG00000182247.11	transcript	ENST00000396703.6	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
UBE2G1_chr17_4264259_4371675	4278546	CAAGCTAG others(14): Show CAAGCTAGCATACTATACTCTG	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02165.hp2 NA18950.hp1 others(4): Show HG01070.hp1 HG02165.hp2 NA18950.hp1 NA18955.hp2 NA19060.hp2 NA19077.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0204 a0001c0001t0002g0255 a0001c0001t0009g0155 others(4): Show a0001c0001t0002g0204 a0001c0001t0002g0255 a0001c0001t0009g0155 a0001c0001t0009g0220 a0001c0001t0009g0224 a0001c0001t0009g0225 a0001c0001t0009g0232	7	272	0.0257	-21	c.37 others(38): Show c.37+4231_*37+4251delCAGAGTATAGTATGCTAGCTT	UBE2G1	ENSG00000132388.13	transcript	ENST00000396981.7	protein_coding	5/5			chr17	TogoVar
UBE2H_chr7_129825732_129957960	129846346	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0200 a0001c0001t0002g0200	1	290	0.0035	-21	c.299 others(38): Show c.299-7032_299-7012delATTATTATTATTATTATTATT	UBE2H	ENSG00000186591.13	transcript	ENST00000355621.8	protein_coding	5/6			chr7	TogoVar
UBE2K_chr4_39693136_39787792	39702226	CTTTTCTT others(14): Show CTTTTCTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0272 a0001c0001t0002g0272	1	336	0.0030	-21	c.63+ others(36): Show c.63+3841_63+3861delCTTTTTTTTTTTTTTTTTTTT	UBE2K	ENSG00000078140.14	transcript	ENST00000261427.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
UBE2K_chr4_39693136_39787792	39702231	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00558.hp1 others(57): Show HG00099.hp2 HG00423.hp1 HG00558.hp1 HG01069.hp2 HG01071.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01891.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02055.hp2 HG02080.hp1 HG02109.hp2 HG02155.hp2 HG02165.hp2 HG02280.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02738.hp1 HG02965.hp2 HG02970.hp1 HG03098.hp1 HG03130.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03540.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG04228.hp2 NA18522.hp2 NA18906.hp2 NA18946.hp2 NA18956.hp2 NA18965.hp2 NA19082.hp2 NA19240.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 a0001c0001t0019 a0001c0001t0023 a0001c0001t0028	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(57): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0007g0028 a0001c0001t0007g0035 a0001c0001t0007g0038 a0001c0001t0007g0171 a0001c0001t0007g0174 a0001c0001t0010g0055 a0001c0001t0019g0053 a0001c0001t0023g0179 a0001c0001t0028g0175	60	336	0.1786	-21	c.63+ others(36): Show c.63+3861_63+3881delTTTTTTTTTTTTTTTTTTTTT	UBE2K	ENSG00000078140.14	transcript	ENST00000261427.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
UBE2L3_chr22_21562714_21629034	21612324	TTTCTTTT others(14): Show TTTCTTTTCTTTTCTTTTTTGG	T T	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	352	0.0028	-21	c.310 others(38): Show c.310+1282_310+1302delTTCTTTTCTTTTCTTTTTTGG	UBE2L3	ENSG00000185651.16	transcript	ENST00000342192.9	protein_coding	3/3			chr22	TogoVar
UBE2QL1_chr5_6443859_6501723	6448723	CCGGCGGC others(14): Show CCGGCGGCTGCGGCGGCGGCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	340	0.0029	-21	c.-17 others(30): Show c.-170_-150delCGGCGGCTGCGGCGGCGGCGG	UBE2QL1	ENSG00000215218.4	transcript	ENST00000399816.4	protein_coding		135		chr5	TogoVar
UBE3C_chr7_157133926_157274370	157171680	ATATATAT others(14): Show ATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0175 a0001c0004t0003g0175	1	322	0.0031	-21	c.342 others(38): Show c.342+1232_342+1252delATATATTTTTTTTTTTTTTTT	UBE3C	ENSG00000009335.19	transcript	ENST00000348165.10	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
UBE3C_chr7_157133926_157274370	157171682	ATATATTT others(14): Show ATATATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0322 a0001c0001t0003g0322	1	322	0.0031	-21	c.342 others(38): Show c.342+1234_342+1254delATATTTTTTTTTTTTTTTTTT	UBE3C	ENSG00000009335.19	transcript	ENST00000348165.10	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
UBE3C_chr7_157133926_157274370	157171684	ATATTTTT others(14): Show ATATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG04115.hp2 NA18943.hp2 NA18949.hp1 HG04115.hp2 NA18943.hp2 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0002 a0001c0001t0014	a0001c0001t0002g0068 a0001c0001t0002g0090 a0001c0001t0014g0097 a0001c0001t0002g0068 a0001c0001t0002g0090 a0001c0001t0014g0097	3	322	0.0093	-21	c.342 others(38): Show c.342+1236_342+1256delATTTTTTTTTTTTTTTTTTTT	UBE3C	ENSG00000009335.19	transcript	ENST00000348165.10	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
UBE3C_chr7_157133926_157274370	157171686	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp2 HG01433.hp2 others(22): Show HG00423.hp1 HG00597.hp2 HG01433.hp2 HG02109.hp2 HG02148.hp2 HG02280.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02738.hp2 HG03195.hp1 HG03540.hp1 NA18747.hp2 NA18942.hp2 NA18967.hp1 NA18967.hp2 NA18977.hp1 NA18978.hp2 NA18983.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19006.hp2 NA19010.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0019 others(1): Show a0001c0001 a0001c0003 a0001c0019 a0002c0007	a0001c0001t0002 a0001c0003t0001 a0001c0003t0003 others(2): Show a0001c0001t0002 a0001c0003t0001 a0001c0003t0003 a0001c0019t0003 a0002c0007t0012	a0001c0001t0002g0047 a0001c0001t0002g0092 a0001c0001t0002g0093 others(22): Show a0001c0001t0002g0047 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0096 a0001c0001t0002g0099 a0001c0003t0001g0137 a0001c0003t0003g0101 a0001c0003t0003g0109 a0001c0003t0003g0110 a0001c0003t0003g0112 a0001c0003t0003g0113 a0001c0003t0003g0114 a0001c0003t0003g0115 a0001c0003t0003g0116 a0001c0003t0003g0117 a0001c0003t0003g0118 a0001c0003t0003g0121 a0001c0003t0003g0123 a0001c0003t0003g0124 a0001c0003t0003g0129 a0001c0003t0003g0130 a0001c0003t0003g0133 a0001c0003t0003g0134 a0001c0019t0003g0154 a0002c0007t0012g0132	25	322	0.0776	-21	c.342 others(38): Show c.342+1254_342+1274delTTTTTTTTTTTTTTTTTTTTT	UBE3C	ENSG00000009335.19	transcript	ENST00000348165.10	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
UBE3C_chr7_157133926_157274370	157208055	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp2 HG02280.hp1 others(4): Show HG01884.hp2 HG02258.hp2 HG02280.hp1 HG02622.hp1 HG02970.hp2 HG03041.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0013 a0001c0014t0028	a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0003g0321 others(4): Show a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0003g0321 a0001c0001t0012g0317 a0001c0001t0013g0318 a0001c0001t0013g0320 a0001c0014t0028g0319	7	322	0.0217	-21	c.180 others(38): Show c.1809+137_1809+157delTTTTTTTTTTTTTTTTTTTTT	UBE3C	ENSG00000009335.19	transcript	ENST00000348165.10	protein_coding	13/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
UBP1_chr3_33383336_33445405	33426013	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0228 a0002c0002t0001g0228	1	352	0.0028	-21	c.114 others(36): Show c.114-293_114-273delATATATATATATATATATATA	UBP1	ENSG00000153560.12	transcript	ENST00000283629.8	protein_coding	1/15			chr3	TogoVar
UBQLN3_chr11_5502300_5514957	5504612	CCTTTATT others(14): Show CCTTTATTTTCCCAAGCACAAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0012 a0012	a0012c0033 a0012c0033	a0012c0033t0001 a0012c0033t0001	a0012c0033t0001g0046 a0012c0033t0001g0046	1	474	0.0021	-21	c.29 others(32): Show c.2958_*2978delCTTGTGCTTGGGAAAATAAAG	UBQLN3	ENSG00000175520.9	transcript	ENST00000311659.5	protein_coding		2687		chr11	TogoVar
UBXN4_chr2_135736855_135790056	135750835	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp2 HG00673.hp2 others(76): Show HG00280.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01099.hp2 HG01123.hp1 HG01167.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01257.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG02055.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02630.hp1 HG02886.hp1 HG02895.hp2 HG03041.hp2 HG03195.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03579.hp2 HG03831.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp2 NA18906.hp1 NA18940.hp2 NA18956.hp1 NA18960.hp2 NA18968.hp2 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp2 NA18986.hp2 NA18994.hp1 NA18998.hp2 NA19000.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19007.hp2 NA19009.hp2 NA19057.hp1 NA19060.hp1 NA19067.hp2 NA19070.hp2 NA19074.hp1 NA19081.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0002t0018 a0002c0005t0002	a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 others(57): Show a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0002g0005 a0001c0001t0002g0226 a0001c0001t0002g0232 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0273 a0001c0001t0002g0277 a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0225 a0001c0002t0002g0227 a0001c0002t0002g0228 a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0002t0002g0233 a0001c0002t0002g0234 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0260 a0001c0002t0002g0262 a0001c0002t0002g0263 a0001c0002t0002g0264 a0001c0002t0002g0265 a0001c0002t0002g0266 a0001c0002t0002g0274 a0001c0002t0018g0004 a0002c0005t0002g0004 a0002c0005t0002g0257	79	370	0.2135	-21	c.185 others(38): Show c.185+2484_185+2504delTTTTTTTTTTTTTTTTTTTTT	UBXN4	ENSG00000144224.17	transcript	ENST00000272638.14	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr2	TogoVar

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