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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
TTLL12_chr22_43161622_43192134	43187240	C C	CCCCCGCC others(30): Show CCCCCGCCTCCGCCCCCCGCCCCGCCCGCCTCCCAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0003 a0003	a0003c0047 a0003c0047	a0003c0047t0006 a0003c0047t0006	a0003c0047t0006g0374 a0003c0047t0006g0374	1	394	0.0025	37	c.-17 others(46): Show c.-172_-171insTGCTGGGAGGCGGGCGGGGCGGGGGGCGGAGGCGGG G		TTLL12	ENSG00000100304.13	transcript	ENST00000216129.7	protein_coding					107		chr22	TogoVar
TTLL5_chr14_75656246_75960079	75914033	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0188 a0002c0003t0001g0188	1	198	0.0051	37	c.382 others(58): Show c.3823+11810_3823+11811insAAAAAAAAAAAAATATATATATAT ATATATATATATA		TTLL5	ENSG00000119685.20	transcript	ENST00000298832.14	protein_coding	31/31					INFO_REALIGN_3_PRIME	chr14	TogoVar
TTLL5_chr14_75656246_75960079	75914033	A A	AAAAAAAA others(30): Show AAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	198	0.0051	37	c.382 others(58): Show c.3823+11810_3823+11811insAAAAAAATATATATATATATATAT ATATATATATATA		TTLL5	ENSG00000119685.20	transcript	ENST00000298832.14	protein_coding	31/31					INFO_REALIGN_3_PRIME	chr14	TogoVar
TTLL5_chr14_75656246_75960079	75914033	A A	AAAAAAAT others(30): Show AAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02630.hp1 HG02602.hp2 HG02630.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0006c0009 a0001c0002 a0006c0009	a0001c0002t0001 a0006c0009t0007 a0001c0002t0001 a0006c0009t0007	a0001c0002t0001g0096 a0006c0009t0007g0005 a0001c0002t0001g0096 a0006c0009t0007g0005	2	198	0.0101	37	c.382 others(58): Show c.3823+11810_3823+11811insAAAAATATATATATATATATATAT ATATATATATATA		TTLL5	ENSG00000119685.20	transcript	ENST00000298832.14	protein_coding	31/31					INFO_REALIGN_3_PRIME	chr14	TogoVar
TTLL9_chr20_31865634_31950000	31890150	C C	CTTCTTCT others(30): Show CTTCTTCTTTCTTTCTTTCTTCTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	264	0.0038	37	c.113 others(54): Show c.113+2914_113+2915insTTCTTTCTTTCTTTCTTCTTCTTTCTTT CTTTCTTTC		TTLL9	ENSG00000131044.19	transcript	ENST00000535842.6	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr20	TogoVar
TTYH1_chr19_54410464_54441904	54435876	A A	ACTGGATG others(30): Show ACTGGATGCCTGGGTCTGAGGGAGGAGGGGCGGGGGGC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03669.hp2 HG03017.hp1 HG03669.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0228 a0001c0002t0010g0236 a0001c0002t0010g0228 a0001c0002t0010g0236	2	329	0.0061	37	c.131 others(52): Show c.1314+39_1314+40insCCTGGATGCCTGGGTCTGAGGGAGGAGGGG CGGGGGG		TTYH1	ENSG00000167614.14	transcript	ENST00000376530.8	protein_coding	12/13					INFO_REALIGN_3_PRIME	chr19	TogoVar
TTYH2_chr17_74208571_74267020	74219387	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0004 a0010c0013t0004	a0010c0013t0004g0293 a0010c0013t0004g0293	1	352	0.0028	37	c.130 others(54): Show c.130-3082_130-3081insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA		TTYH2	ENSG00000141540.11	transcript	ENST00000269346.9	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
TTYH3_chr7_2626986_2669802	2648972	T T	TATGGGGC others(30): Show TATGGGGCCCGCAGTGGGGTGTGGGGCCCGCAGTGGGG	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0340 a0001c0001t0001g0340	1	402	0.0025	37	c.723 others(52): Show c.723-595_723-594insATGGGGCCCGCAGTGGGGTGTGGGGCCCGC AGTGGGG		TTYH3	ENSG00000136295.16	transcript	ENST00000258796.12	protein_coding	5/13						chr7	TogoVar
TUBA1B_chr12_49122782_49136395	49123757	A A	ATTTTTTT others(30): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	384	0.0026	37	c.42 others(48): Show c.4200_*4201insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA		TUBA1B	ENSG00000123416.15	transcript	ENST00000336023.9	protein_coding					4024		chr12	TogoVar
TUBA3C_chr13_19168772_19186824	19186368	T T	TTTTTTCA others(30): Show TTTTTTCACTTTCTTCCTTTTCTTCTCTTCTCCCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	448	0.0022	37	c.-46 others(48): Show c.-4622_-4621insGAAAGGGAGAAGAGAAGAAAAGGAAGAAAGTGAA AAA		TUBA3C	ENSG00000198033.13	transcript	ENST00000400113.8	protein_coding					4545		chr13	TogoVar
TUBGCP2_chr10_133273635_133313872	133291642	T T	TCCCTCCG others(30): Show TCCCTCCGTGTCCCTCCGTGTCCATGTCCCTCCGTGTC	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0068 a0001c0002t0003g0068	1	284	0.0035	37	c.121 others(54): Show c.1214+856_1214+857insGACACGGAGGGACATGGACACGGAGGGA CACGGAGGG		TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17						chr10	TogoVar
TUBGCP4_chr15_43366101_43414771	43386377	A A	ATATATAT others(30): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0263 a0001c0001t0063g0263	1	336	0.0030	37	c.101 others(52): Show c.1014+48_1014+49insATATATATATATATATATTTTTTTTTTTTT TTTTTTT		TUBGCP4	ENSG00000137822.13	transcript	ENST00000564079.6	protein_coding	9/17					INFO_REALIGN_3_PRIME	chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23042110	T T	TGGGATTT others(30): Show TGGGATTTCATAACCCCACCTGGCCAGAGGTGCCGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	351	0.0029	37	c.-25 others(48): Show c.-2568_-2567insCCCCGGCACCTCTGGCCAGGTGGGGTTATGAAAT CCC		TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding					2542		chr15	TogoVar
TUSC2_chr3_50319909_50333223	50331549	G G	GGGGAGGA others(30): Show GGGGAGGACGGGGCTCGGGAGGCCTGGTAGGGGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	37	c.-34 others(48): Show c.-3451_-3450insACCCCCCCCTACCAGGCCTCCCGAGCCCCGTCCT CCC		TUSC2	ENSG00000114383.10	transcript	ENST00000232496.5	protein_coding					3327		chr3	TogoVar
TUSC3_chr8_15535263_15771638	15570954	G G	GTTTTTTT others(30): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18999.hp1 NA18986.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0284 a0001c0001t0001g0280 a0001c0001t0001g0284	2	372	0.0054	37	c.138 others(56): Show c.138+30406_138+30407insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT		TUSC3	ENSG00000104723.21	transcript	ENST00000503731.6	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
TVP23A_chr16_10761675_10823794	10820486	A A	AATATATG others(30): Show AATATATGTATATGTATATATATATATATATATATTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0120 a0001c0001t0011g0120	1	410	0.0024	37	c.-19 others(48): Show c.-1994_-1993insATAATATATATATATATATATATACATATACATA TAT		TVP23A	ENSG00000166676.17	transcript	ENST00000299866.13	protein_coding					1693		chr16	TogoVar
TWF1_chr12_43788723_43811317	43807191	G G	GCGCCCCC others(30): Show GCGCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	382	0.0026	37	c.-94 others(46): Show c.-947_-946insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC G		TWF1	ENSG00000151239.14	transcript	ENST00000395510.7	protein_coding					875		chr12	TogoVar
TWIST2_chr2_238843085_238915534	238871032	C C	CACACACC others(30): Show CACACACCACACCCCACACACACCACACCCCATACACA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0292 a0001c0001t0003g0292	1	338	0.0030	37	c.35 others(56): Show c.35+22299_*35+22300insACACACCACACCCCACACACACCACA CCCCATACACA		TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1						chr2	TogoVar
TXK_chr4_48061393_48139250	48104212	A A	ATATATAT others(30): Show ATATATATTATATATAATATTATATATAATATATATTT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0230 a0001c0008t0003g0230	1	362	0.0028	37	c.501 others(52): Show c.501+688_501+689insAAATATATATTATATATAATATTATATATA ATATATA		TXK	ENSG00000074966.11	transcript	ENST00000264316.9	protein_coding	6/14						chr4	TogoVar
TXNRD1_chr12_104210779_104355307	104254644	A A	AAAAATAT others(30): Show AAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0118 a0001c0005t0001g0118	1	302	0.0033	37	c.243 others(54): Show c.243+2967_243+2968insAAATATATATATATATATATATATATAT ATATATATA		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(30): Show ATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0159 a0001c0003t0001g0159	1	302	0.0033	37	c.243 others(54): Show c.243+2966_243+2967insTATATATATATATATATATATATATATA TATATATAT		TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	2/16						chr12	TogoVar
TXNRD2_chr22_19870522_19946818	19907017	C C	CGCCATGG others(30): Show CGCCATGGGTAGCAGTGACGGCTCTCAGGAGAGTGTGG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	372	0.0027	37	c.662 others(54): Show c.662+4359_662+4360insCCACACTCTCCTGAGAGCCGTCACTGCT ACCCATGGC		TXNRD2	ENSG00000184470.21	transcript	ENST00000400521.7	protein_coding	8/17						chr22	TogoVar
TXNRD2_chr22_19870522_19946818	19907696	G G	GTAGCAGT others(30): Show GTAGCAGTGACCGCTCTCAGGAGTGTGGGTGCCGTGGA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01175.hp2 HG02258.hp1 others(4): Show HG01074.hp2 HG01175.hp2 HG02258.hp1 HG02572.hp1 HG03195.hp1 HG03471.hp2 HG03516.hp2	a0001 a0008 a0011 a0001 a0008 a0011	a0001c0001 a0008c0016 a0011c0020 a0001c0001 a0008c0016 a0011c0020	a0001c0001t0001 a0008c0016t0002 a0011c0020t0003 a0001c0001t0001 a0008c0016t0002 a0011c0020t0003	a0001c0001t0001g0305 a0001c0001t0001g0327 a0008c0016t0002g0100 others(4): Show a0001c0001t0001g0305 a0001c0001t0001g0327 a0008c0016t0002g0100 a0008c0016t0002g0101 a0008c0016t0002g0145 a0011c0020t0003g0094 a0011c0020t0003g0257	7	372	0.0188	37	c.662 others(54): Show c.662+3680_662+3681insTCCACGGCACCCACACTCCTGAGAGCGG TCACTGCTA		TXNRD2	ENSG00000184470.21	transcript	ENST00000400521.7	protein_coding	8/17						chr22	TogoVar
TXNRD2_chr22_19870522_19946818	19907708	G G	GCTCTCAG others(30): Show GCTCTCAGGAGTGTGGGTGCCGTGGATAGCAGTGACCA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0310 a0001c0004t0002g0310	1	372	0.0027	37	c.662 others(54): Show c.662+3668_662+3669insTGGTCACTGCTATCCACGGCACCCACAC TCCTGAGAG		TXNRD2	ENSG00000184470.21	transcript	ENST00000400521.7	protein_coding	8/17						chr22	TogoVar
UBA2_chr19_34423381_34476251	34457179	A A	AAAAATAT others(30): Show AAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	320	0.0031	37	c.124 others(56): Show c.1246-1589_1246-1588insAAATATATATATATATATATATATAT ATATATATATA		UBA2	ENSG00000126261.13	transcript	ENST00000246548.9	protein_coding	12/16					INFO_REALIGN_3_PRIME	chr19	TogoVar
UBAP2_chr9_33916693_34053887	34035514	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA19011.hp1 HG03654.hp1 NA19011.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0190 a0001c0002t0001g0210 a0001c0002t0001g0190 a0001c0002t0001g0210	2	356	0.0056	37	c.-42 others(56): Show c.-42+13310_-42+13311insATATATATATATATATATATATATAT TTTTTTTTTTT		UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	1/28						chr9	TogoVar
UBAP2_chr9_33916693_34053887	34035514	A A	AAAAAAAA others(30): Show AAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02258.hp2 HG02293.hp1 others(2): Show HG01928.hp2 HG02258.hp2 HG02293.hp1 HG02976.hp2 NA18973.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0022 a0001c0002 a0001c0003 a0001c0022	a0001c0002t0001 a0001c0003t0001 a0001c0022t0001 a0001c0002t0001 a0001c0003t0001 a0001c0022t0001	a0001c0002t0001g0184 a0001c0003t0001g0270 a0001c0003t0001g0338 others(2): Show a0001c0002t0001g0184 a0001c0003t0001g0270 a0001c0003t0001g0338 a0001c0003t0001g0353 a0001c0022t0001g0318	5	356	0.0140	37	c.-42 others(56): Show c.-42+13310_-42+13311insATATATATATATATATATATATATAT ATTTTTTTTTT		UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	1/28						chr9	TogoVar
UBE2B_chr5_134366569_134397108	134376348	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	282	0.0036	37	c.126 others(52): Show c.126-320_126-319insAAAAAAAAAAATATATATATATATATATAT ATATATA		UBE2B	ENSG00000119048.9	transcript	ENST00000265339.7	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr5	TogoVar
UBE2E1_chr3_23800955_23896640	23842246	T T	TGTGTGTG others(30): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	370	0.0027	37	c.203 others(56): Show c.203+30739_203+30740insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGGTG		UBE2E1	ENSG00000170142.12	transcript	ENST00000306627.8	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
UBE2E2_chr3_23198327_23596794	23571280	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18981.hp2 HG02074.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0145 a0001c0001t0003g0187 a0001c0001t0003g0145 a0001c0001t0003g0187	2	336	0.0060	37	c.509 others(56): Show c.509-18427_509-18426insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT		UBE2E2	ENSG00000182247.11	transcript	ENST00000396703.6	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
UBE2K_chr4_39693136_39787792	39714550	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	336	0.0030	37	c.63+ others(54): Show c.63+16161_63+16162insATATATATATATATATATATATATATAT ATTTTTTTT		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(30): Show ATATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0136 a0001c0001t0003g0136	1	336	0.0030	37	c.63+ others(54): Show c.63+16161_63+16162insATATATATATATATATATATATATATTT TTTTTTTTT		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(30): Show ATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0154 a0001c0001t0003g0154	1	336	0.0030	37	c.63+ others(54): Show c.63+16161_63+16162insATATATATATATATATATATATTTTTTT TTTTTTTTT		UBE2K	ENSG00000078140.14	transcript	ENST00000261427.10	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr4	TogoVar
UBE2U_chr1_64198623_64272368	64239113	A A	AGGAAGAA others(30): Show AGGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	330	0.0030	37	c.596 others(54): Show c.596-2538_596-2537insGAAGAAGAAGAAGAAGAGGAAGAGGAAG AGGAAGAGG		UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding	7/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
UBE2U_chr1_64198623_64272368	64239119	A A	AGGAAGAA others(30): Show AGGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03704.hp2 HG04204.hp2 HG02738.hp2 HG03704.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0001g0057	3	330	0.0091	37	c.596 others(54): Show c.596-2532_596-2531insGAAGAAGAAGAAGAAGAGGAAGAGGAAG AGGAAGAGG		UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding	7/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
UBE2U_chr1_64198623_64272368	64239119	A A	AGGAAGAA others(30): Show AGGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03225.hp1 HG02922.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0077 a0001c0001t0003g0028 a0001c0001t0001g0077 a0001c0001t0003g0028	2	330	0.0061	37	c.596 others(54): Show c.596-2532_596-2531insGAAGAAGAAGAGGAAGAGGAAGAGGAAG AGGAAGAGG		UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding	7/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
UBE2U_chr1_64198623_64272368	64239125	A A	AGGAAGAA others(30): Show AGGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0081 a0002c0003t0001g0081	1	330	0.0030	37	c.596 others(54): Show c.596-2526_596-2525insGAAGAAGAAGAAGAAGAGGAAGAGGAAG AGGAAGAGG		UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding	7/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
UBR3_chr2_169822454_170089131	169831127	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0169 a0001c0002t0002g0169	1	324	0.0031	37	c.545 others(54): Show c.545+3076_545+3077insATATATATATATATATATATATATATAT ATATATTTT		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(30): Show TATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0164 a0001c0002t0002g0164	1	324	0.0031	37	c.545 others(54): Show c.545+3076_545+3077insATATATATATATATATATATATATATAT ATATATATA		UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	1/38						chr2	TogoVar
UBXN11_chr1_26277282_26311636	26282391	G G	GGACCGGG others(30): Show GGACCGGGGACCGGGGACTGGGCCGCCGGGACCGGGAC	frameshift_variant frameshift_variant	HIGH	NA19001.hp1 NA19001.hp1	a0000 a0000	a0000c0022 a0000c0022	a0000c0022t0001 a0000c0022t0001	a0000c0022t0001g0072 a0000c0022t0001g0072	1	370	0.0027	37	c.147 others(46): Show c.1470_1471insGTCCCGGTCCCGGCGGCCCAGTCCCCGGTCCCCGGT C	p.Pro others(5): Show p.Pro491fs	UBXN11	ENSG00000158062.21	transcript	ENST00000374222.6	protein_coding	15/15	1550/1660	1470/1563	490/520			chr1	TogoVar
UIMC1_chr5_176900006_177011779	176983972	A A	AGGAAGTG others(30): Show AGGAAGTGAGGAGCGCCTCTGCCCGGCCGCCCCGTCTG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0324 a0003c0004t0001g0324	1	330	0.0030	37	c.-8- others(52): Show c.-8-1386_-8-1350dupCAGACGGGGCGGCCGGGCAGAGGCGCTCCT CACTTCC		UIMC1	ENSG00000087206.17	transcript	ENST00000511320.6	protein_coding	1/14						chr5	TogoVar
ULK4_chr3_41241599_41967103	41305711	T T	TGGCTGCC others(30): Show TGGCTGCCCAGTCTGGAAAGTGAGGAGCGTCTCTGCCC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01243.hp2 HG01934.hp2 others(16): Show HG01169.hp1 HG01243.hp2 HG01934.hp2 HG02257.hp1 HG02451.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02818.hp2 HG02895.hp1 HG02970.hp1 HG03209.hp2 HG03540.hp2 HG04115.hp2 HG06807.hp2 NA18522.hp1 NA19043.hp1 NA19043.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0017	a0001c0001 a0003c0002 a0004c0004 others(3): Show a0001c0001 a0003c0002 a0004c0004 a0005c0006 a0005c0013 a0017c0019	a0001c0001t0001 a0001c0001t0003 a0003c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0003 a0003c0002t0001 a0003c0002t0002 a0003c0002t0005 a0004c0004t0002 a0005c0006t0004 a0005c0013t0002 a0017c0019t0003	a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0032 others(16): Show a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0003g0069 a0003c0002t0001g0006 a0003c0002t0002g0007 a0003c0002t0002g0008 a0003c0002t0002g0009 a0003c0002t0005g0067 a0004c0004t0002g0015 a0005c0006t0004g0002 a0005c0013t0002g0017 a0017c0019t0003g0071	19	72	0.2639	37	c.367 others(58): Show c.3679-56174_3679-56138dupGGGCAGAGACGCTCCTCACTTTCC AGACTGGGCAGCC		ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	35/36						chr3	TogoVar
ULK4_chr3_41241599_41967103	41506767	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAATATATATATAAATATATGTATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0016 a0016	a0016c0021 a0016c0021	a0016c0021t0001 a0016c0021t0001	a0016c0021t0001g0045 a0016c0021t0001g0045	1	72	0.0139	37	c.322 others(58): Show c.3227-43515_3227-43514insATATATACATATATTTATATATAT ATTTTTTTTTTTT		ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	32/36						chr3	TogoVar
ULK4_chr3_41241599_41967103	41841169	A A	ACTGGGAG others(30): Show ACTGGGAGGTGAGGAGCACCTCTGCCCGGCTGCCCCAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0006 a0003c0002t0001g0006	1	72	0.0139	37	c.165 others(56): Show c.1657-5199_1657-5198insATGGGGCAGCCGGGCAGAGGTGCTCC TCACCTCCCAG		ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	17/36						chr3	TogoVar
ULK4_chr3_41241599_41967103	41841186	G G	GCCTCTGC others(30): Show GCCTCTGCCCGGCTGCCCCATCTGGGAGGTGAGGAGCA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00735.hp1 HG01109.hp2 others(31): Show HG00621.hp2 HG00735.hp1 HG01109.hp2 HG01169.hp2 HG01243.hp2 HG01515.hp1 HG01891.hp1 HG02145.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02572.hp2 HG02622.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG04184.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2	a0002 a0003 a0004 others(9): Show a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0011 a0012 a0013 a0015	a0002c0003 a0002c0016 a0003c0002 others(12): Show a0002c0003 a0002c0016 a0003c0002 a0004c0004 a0004c0009 a0005c0006 a0005c0013 a0006c0005 a0008c0011 a0009c0010 a0010c0008 a0011c0018 a0012c0017 a0013c0012 a0015c0015	a0002c0003t0001 a0002c0003t0006 a0002c0016t0001 others(14): Show a0002c0003t0001 a0002c0003t0006 a0002c0016t0001 a0003c0002t0002 a0003c0002t0005 a0004c0004t0002 a0004c0009t0002 a0005c0006t0004 a0005c0013t0002 a0006c0005t0001 a0008c0011t0002 a0009c0010t0002 a0010c0008t0002 a0011c0018t0001 a0012c0017t0001 a0013c0012t0001 a0015c0015t0001	a0002c0003t0001g0059 a0002c0003t0001g0060 a0002c0003t0001g0061 others(31): Show a0002c0003t0001g0059 a0002c0003t0001g0060 a0002c0003t0001g0061 a0002c0003t0001g0062 a0002c0003t0006g0058 a0002c0016t0001g0057 a0003c0002t0002g0007 a0003c0002t0002g0008 a0003c0002t0002g0009 a0003c0002t0005g0067 a0003c0002t0005g0068 a0004c0004t0002g0014 a0004c0004t0002g0015 a0004c0004t0002g0016 a0004c0004t0002g0019 a0004c0009t0002g0012 a0004c0009t0002g0018 a0005c0006t0004g0001 a0005c0006t0004g0002 a0005c0006t0004g0003 a0005c0013t0002g0017 a0006c0005t0001g0063 a0006c0005t0001g0064 a0006c0005t0001g0065 a0008c0011t0002g0010 a0008c0011t0002g0011 a0009c0010t0002g0004 a0009c0010t0002g0056 a0010c0008t0002g0020 a0010c0008t0002g0021 a0011c0018t0001g0050 a0012c0017t0001g0022 a0013c0012t0001g0066 a0015c0015t0001g0005	34	72	0.4722	37	c.165 others(56): Show c.1657-5216_1657-5215insTGCTCCTCACCTCCCAGATGGGGCAG CCGGGCAGAGG		ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	17/36						chr3	TogoVar
UNC13B_chr9_35157009_35410335	35183242	A A	AGGGCGGC others(30): Show AGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCAGGCG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03688.hp2 HG03834.hp1 HG02738.hp2 HG03688.hp2 HG03834.hp1	a0014 a0033 a0014 a0033	a0014c0014 a0033c0021 a0014c0014 a0033c0021	a0014c0014t0004 a0033c0021t0001 a0014c0014t0004 a0033c0021t0001	a0014c0014t0004g0018 a0014c0014t0004g0019 a0033c0021t0001g0020 a0014c0014t0004g0018 a0014c0014t0004g0019 a0033c0021t0001g0020	3	224	0.0134	37	c.22+ others(54): Show c.22+20941_22+20977dupCGGCCGGGCAGAGGAGCCCCTCACCTCC CAGGCGGGG		UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	1/39					INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13B_chr9_35157009_35410335	35183260	A A	AGCCCCTC others(30): Show AGCCCCTCACCTCCCAGGCGGGGCGGCCGGGCAGAGGC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03017.hp1 HG02602.hp2 HG03017.hp1	a0001 a0009 a0001 a0009	a0001c0023 a0009c0022 a0001c0023 a0009c0022	a0001c0023t0001 a0009c0022t0001 a0001c0023t0001 a0009c0022t0001	a0001c0023t0001g0062 a0009c0022t0001g0102 a0001c0023t0001g0062 a0009c0022t0001g0102	2	224	0.0089	37	c.22+ others(54): Show c.22+20977_22+20978insCGGCCGGGCAGAGGCGCCCCTCACCTCC CAGGCGGGG		UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	1/39					INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13B_chr9_35157009_35410335	35232177	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00735.hp1 NA19067.hp2 HG00280.hp1 HG00735.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0138 a0001c0001t0001g0155 a0001c0001t0001g0007 a0001c0001t0001g0138 a0001c0001t0001g0155	3	224	0.0134	37	c.152 others(52): Show c.152+979_152+980insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT		UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	3/39					INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC5D_chr8_35230475_35801540	35248078	A A	AATATATA others(30): Show AATATATATAATATATAAATAAATATTATATATAAAAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	64	0.0156	37	c.103 others(56): Show c.103+12192_103+12193insTATATATAATATATAAATAAATATTA TATATAAAATA		UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35248266	A A	AAGAAATA others(30): Show AAGAAATAGATATAATATATAAATATATGTTATATATG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02559.hp1 HG03471.hp1 HG02257.hp1 HG02559.hp1 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0005 a0001c0001 a0001c0004 a0002c0005	a0001c0001t0002 a0001c0004t0003 a0002c0005t0018 a0001c0001t0002 a0001c0004t0003 a0002c0005t0018	a0001c0001t0002g0059 a0001c0004t0003g0046 a0002c0005t0018g0054 a0001c0001t0002g0059 a0001c0004t0003g0046 a0002c0005t0018g0054	3	64	0.0469	37	c.103 others(56): Show c.103+12380_103+12381insGAAATAGATATAATATATAAATATAT GTTATATATGA		UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr8	TogoVar

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