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
ACSL5_chr10_112369116_112433376	112423221	A A	AAAAATAT others(22): Show AAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	364	0.0028	29	c.159 others(46): Show c.1593+781_1593+782insAAATATATATATATATATATATATATAT A	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSL5_chr10_112369116_112433376	112423221	A A	AAATATAT others(22): Show AAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	364	0.0028	29	c.159 others(46): Show c.1593+781_1593+782insATATATATATATATATATATATATATAT A	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSL5_chr10_112369116_112433376	112423221	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01517.hp1 HG03195.hp2 others(1): Show HG00140.hp1 HG01517.hp1 HG03195.hp2 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0084 a0001c0001t0001g0248 a0001c0001t0001g0303 others(1): Show a0001c0001t0001g0084 a0001c0001t0001g0248 a0001c0001t0001g0303 a0001c0005t0001g0272	4	364	0.0110	29	c.159 others(46): Show c.1593+780_1593+781insTATATATATATATATATATATATATATA T	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20			chr10	TogoVar
ACSM1_chr16_20618235_20702680	20672471	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0279 a0001c0005t0001g0279	1	318	0.0031	29	c.612 others(44): Show c.612-801_612-800insATATATATATATATATTTTTTTTTTTTTT	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	4/13			chr16	TogoVar
ACSM1_chr16_20618235_20702680	20672471	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA18522.hp1 HG02809.hp1 NA18522.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0078 a0001c0005t0001g0282 a0001c0005t0001g0078 a0001c0005t0001g0282	2	318	0.0063	29	c.612 others(44): Show c.612-801_612-800insATATATATATATATATATTTTTTTTTTTT	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	4/13			chr16	TogoVar
ACSM1_chr16_20618235_20702680	20672471	A A	AAAAAAAA others(22): Show AAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0248 a0001c0005t0001g0248	1	318	0.0031	29	c.612 others(44): Show c.612-801_612-800insATATATATATATATATATATATTTTTTTT	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	4/13			chr16	TogoVar
ACTG2_chr2_73888008_73924865	73920848	T T	TTGCATGG others(22): Show TTGCATGGATTTCCTCAATTAATCCTCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0251 a0001c0001t0003g0251	1	416	0.0024	29	c.12 others(40): Show c.1273_*1274insTGCATGGATTTCCTCAATTAATCCTCACC	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding		984		chr2	TogoVar
ACTG2_chr2_73888008_73924865	73923641	C C	CAGAAAAG others(22): Show CAGAAAAGAAAAGAAAAGAAAAGAAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0373 a0001c0001t0005g0373	1	416	0.0024	29	c.40 others(40): Show c.4066_*4067insAGAAAAGAAAAGAAAAGAAAAGAAAAGAA	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding		3777		chr2	TogoVar
ACTN1_chr14_68869128_68984302	68881936	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	284	0.0035	29	c.195 others(46): Show c.1953+521_1953+522insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	16/21			chr14	TogoVar
ACTN1_chr14_68869128_68984302	68881955	T T	TTTTTTTT others(22): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTGA	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp2 NA19066.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0046 a0001c0001t0002g0026 a0001c0001t0002g0046	2	284	0.0070	29	c.195 others(46): Show c.1953+502_1953+503insTCAAAAAAAAAAAAAAAAAAAAAAAAAA A	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	16/21			chr14	TogoVar
ACTN1_chr14_68869128_68984302	68926828	G G	GAACATCA others(22): Show GAACATCACACCAGCGAGTATCAGGGGAAA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0252 a0001c0004t0001g0252	1	284	0.0035	29	c.106 others(46): Show c.106-1185_106-1157dupTTTCCCCTGATACTCGCTGGTGTGATGT T	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	1/21			chr14	TogoVar
ACTN2_chr1_236681499_236769631	236721015	G G	GGTTTTTT others(22): Show GGTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01978.hp1 HG02004.hp2 others(3): Show HG00738.hp1 HG01978.hp1 HG02004.hp2 HG02080.hp1 HG03669.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0025 a0001c0001t0001 a0001c0001t0003 a0001c0001t0025	a0001c0001t0001g0288 a0001c0001t0001g0327 a0001c0001t0001g0328 others(3): Show a0001c0001t0001g0288 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0335 a0001c0001t0003g0329 a0001c0001t0025g0010	6	344	0.0174	29	c.448 others(44): Show c.448+824_448+825insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	4/20			chr1	TogoVar
ACTN4_chr19_38642649_38736589	38735883	G G	GGGGCGGG others(22): Show GGGGCGGGGCGGTGGTTCTGCGGGCGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0261 a0001c0001t0004g0261	1	314	0.0032	29	c.64 others(40): Show c.6451_*6452insGGGCGGGGCGGTGGTTCTGCGGGCGGGGC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4295		chr19	TogoVar
ACTR2_chr2_65222831_65276253	65267862	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0261 a0001c0001t0006g0261	1	326	0.0031	29	c.101 others(46): Show c.1015-674_1015-673insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	ACTR2	ENSG00000138071.15	transcript	ENST00000260641.10	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTRT3_chr3_169761921_169774561	169763440	A A	AATCCCCC others(22): Show AATCCCCCCCCCCCCCAACCCCCCCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0031 a0002c0002t0004g0031	1	418	0.0024	29	c.39 others(40): Show c.3991_*3992insGTGGGGGGGGGGTTGGGGGGGGGGGGGAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		3480		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169771400	A A	ATGTTTAT others(22): Show ATGTTTATATATAATAAATATATAAAAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	418	0.0024	29	c.-18 others(40): Show c.-1881_-1880insAATTTTTATATATTTATTATATATAAACA	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1840		chr3	TogoVar
ACYP2_chr2_53966113_54310300	54035009	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0013 a0001c0002t0002g0013	1	272	0.0037	29	c.63- others(46): Show c.63-15926_63-15925insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ADA2_chr22_17173790_17224435	17184983	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0156 a0001c0005t0002g0156	1	408	0.0025	29	c.108 others(48): Show c.1082-2223_1082-2222insATATATATATATATATATATATATAT ATA	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	7/9			chr22	TogoVar
ADA2_chr22_17173790_17224435	17188868	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 NA18947.hp2 others(1): Show HG01069.hp1 HG01071.hp2 NA18947.hp2 NA19085.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0003 a0001c0004t0001 a0001c0003t0003 a0001c0004t0001	a0001c0003t0003g0225 a0001c0004t0001g0050 a0001c0004t0001g0051 others(1): Show a0001c0003t0003g0225 a0001c0004t0001g0050 a0001c0004t0001g0051 a0001c0004t0001g0216	4	408	0.0098	29	c.973 others(44): Show c.973-422_973-421insATATATATATATATATTTTTTTTTTTTTT	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	6/9			chr22	TogoVar
ADA2_chr22_17173790_17224435	17188868	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01243.hp1 HG01978.hp2 others(7): Show HG00140.hp2 HG01243.hp1 HG01978.hp2 HG02698.hp1 HG02895.hp2 HG03516.hp1 NA18962.hp2 NA19074.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0008 others(4): Show a0001c0001 a0001c0003 a0001c0008 a0001c0010 a0002c0002 a0002c0006 a0002c0011	a0001c0001t0003 a0001c0001t0019 a0001c0003t0003 others(6): Show a0001c0001t0003 a0001c0001t0019 a0001c0003t0003 a0001c0008t0002 a0001c0010t0018 a0002c0002t0003 a0002c0006t0003 a0002c0006t0046 a0002c0011t0002	a0001c0001t0003g0287 a0001c0001t0019g0295 a0001c0003t0003g0111 others(7): Show a0001c0001t0003g0287 a0001c0001t0019g0295 a0001c0003t0003g0111 a0001c0008t0002g0110 a0001c0010t0018g0144 a0002c0002t0003g0211 a0002c0006t0003g0037 a0002c0006t0003g0107 a0002c0006t0046g0370 a0002c0011t0002g0019	10	408	0.0245	29	c.973 others(44): Show c.973-422_973-421insATATATATATATATATATTTTTTTTTTTT	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	6/9			chr22	TogoVar
ADA2_chr22_17173790_17224435	17188868	A A	AAAAAAAA others(22): Show AAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01099.hp2 HG01109.hp2 others(2): Show HG00323.hp2 HG01099.hp2 HG01109.hp2 HG03688.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0006 a0002c0011 a0001c0003 a0002c0006 a0002c0011	a0001c0003t0003 a0002c0006t0008 a0002c0011t0043 a0001c0003t0003 a0002c0006t0008 a0002c0011t0043	a0001c0003t0003g0035 a0002c0006t0008g0347 a0002c0006t0008g0361 others(2): Show a0001c0003t0003g0035 a0002c0006t0008g0347 a0002c0006t0008g0361 a0002c0006t0008g0369 a0002c0011t0043g0401	5	408	0.0123	29	c.973 others(44): Show c.973-422_973-421insATATATATATATATATATATTTTTTTTTT	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	6/9			chr22	TogoVar
ADA2_chr22_17173790_17224435	17210658	C C	CGTGATCT others(22): Show CGTGATCTTGGCCCTCTACAACCTCCGCCT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0322 a0001c0001t0001g0322	1	408	0.0025	29	c.-46 others(44): Show c.-46-964_-46-936dupAGGCGGAGGTTGTAGAGGGCCAAGATCAC	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	1/9			chr22	TogoVar
ADAM10_chr15_58583809_58754707	58620660	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0085 a0001c0001t0046g0085	1	342	0.0029	29	c.151 others(46): Show c.1511+810_1511+811insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	11/15			chr15	TogoVar
ADAM12_chr10_126007391_126393477	126086680	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0038 a0001c0002t0002g0038	1	252	0.0040	29	c.114 others(48): Show c.1145+7304_1145+7305insATATATATATATATATATTTTTTTTT TTT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126086680	A A	AAAAAAAA others(22): Show AAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0191 a0001c0002t0011g0191	1	252	0.0040	29	c.114 others(48): Show c.1145+7304_1145+7305insATATATATATATATATATATATTTTT TTT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126086680	A A	AAAAAAAT others(22): Show AAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18970.hp2 HG02132.hp2 NA18970.hp2	a0001 a0001	a0001c0002 a0001c0042 a0001c0002 a0001c0042	a0001c0002t0039 a0001c0042t0010 a0001c0002t0039 a0001c0042t0010	a0001c0002t0039g0160 a0001c0042t0010g0067 a0001c0002t0039g0160 a0001c0042t0010g0067	2	252	0.0079	29	c.114 others(48): Show c.1145+7304_1145+7305insATATATATATATATATATATATATTT TTT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126086680	A A	AAAAATAT others(22): Show AAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03471.hp2 HG03453.hp1 HG03471.hp2	a0001 a0009 a0001 a0009	a0001c0008 a0009c0051 a0001c0008 a0009c0051	a0001c0008t0040 a0009c0051t0003 a0001c0008t0040 a0009c0051t0003	a0001c0008t0040g0012 a0009c0051t0003g0142 a0001c0008t0040g0012 a0009c0051t0003g0142	2	252	0.0079	29	c.114 others(48): Show c.1145+7304_1145+7305insATATATATATATATATATATATATAT TTT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126086680	A A	AAATATAT others(22): Show AAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0003 a0003	a0003c0027 a0003c0027	a0003c0027t0011 a0003c0027t0011	a0003c0027t0011g0179 a0003c0027t0011g0179	1	252	0.0040	29	c.114 others(48): Show c.1145+7304_1145+7305insATATATATATATATATATATATATAT ATT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar
ADAM17_chr2_9483486_9560830	9520964	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	234	0.0043	29	c.957 others(44): Show c.957+238_957+239insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ADAM17	ENSG00000151694.15	transcript	ENST00000310823.8	protein_coding	8/18			chr2	TogoVar
ADAM17_chr2_9483486_9560830	9521840	T T	TCTTCCCT others(22): Show TCTTCCCTGCCTGCCTGCCTGCCTGCCTGC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01070.hp1 HG01071.hp1 others(12): Show HG00642.hp1 HG01070.hp1 HG01071.hp1 HG01243.hp1 HG01255.hp1 HG01261.hp1 HG02258.hp1 HG03017.hp2 HG03654.hp2 HG03831.hp2 HG03834.hp2 HG04115.hp2 HG04204.hp2 NA20805.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 others(3): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0002c0003t0040	a0001c0001t0004g0101 a0001c0001t0007g0122 a0001c0001t0007g0133 others(12): Show a0001c0001t0004g0101 a0001c0001t0007g0122 a0001c0001t0007g0133 a0001c0001t0007g0135 a0001c0001t0007g0138 a0001c0001t0009g0128 a0001c0001t0009g0130 a0001c0001t0009g0136 a0001c0001t0009g0139 a0001c0001t0013g0131 a0001c0001t0014g0120 a0001c0001t0014g0127 a0001c0001t0014g0129 a0001c0001t0014g0134 a0002c0003t0040g0054	15	234	0.0641	29	c.844 others(44): Show c.844-525_844-524insGCAGGCAGGCAGGCAGGCAGGCAGGGAAG	ADAM17	ENSG00000151694.15	transcript	ENST00000310823.8	protein_coding	7/18			chr2	TogoVar
ADAM22_chr7_87929251_88207889	87982699	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00738.hp1 HG01261.hp1 others(5): Show HG00280.hp1 HG00738.hp1 HG01261.hp1 HG02071.hp2 HG02257.hp2 HG02647.hp2 HG03453.hp1 NA19043.hp2	a0001 a0003 a0014 a0001 a0003 a0014	a0001c0001 a0003c0003 a0014c0017 a0001c0001 a0003c0003 a0014c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 a0003c0003t0001 a0014c0017t0004	a0001c0001t0001g0119 a0001c0001t0001g0155 a0001c0001t0001g0218 others(5): Show a0001c0001t0001g0119 a0001c0001t0001g0155 a0001c0001t0001g0218 a0001c0001t0002g0090 a0001c0001t0002g0201 a0001c0001t0017g0036 a0003c0003t0001g0077 a0014c0017t0004g0049	8	230	0.0348	29	c.323 others(46): Show c.323+4287_323+4288insTATATATATATATATATATATATATATA T	ADAM22	ENSG00000008277.15	transcript	ENST00000413139.2	protein_coding	3/31			chr7	TogoVar
ADAM22_chr7_87929251_88207889	88039464	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	230	0.0044	29	c.324 others(48): Show c.324-36161_324-36160insAAAAAAAAAAAAAAAAAAATATATAT ATA	ADAM22	ENSG00000008277.15	transcript	ENST00000413139.2	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADAM22_chr7_87929251_88207889	88039464	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	230	0.0044	29	c.324 others(48): Show c.324-36161_324-36160insAAAAAAAAAAAAAAAAATATATATAT ATA	ADAM22	ENSG00000008277.15	transcript	ENST00000413139.2	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADAM28_chr8_24289069_24364014	24325889	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03579.hp1 HG02615.hp2 HG03579.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0005	a0003c0005t0005g0245 a0003c0005t0005g0246 a0003c0005t0005g0245 a0003c0005t0005g0246	2	348	0.0058	29	c.891 others(44): Show c.891-654_891-653insAAAAAAAAAAAAAAAAACAAAAAAAAAAA	ADAM28	ENSG00000042980.14	transcript	ENST00000265769.9	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAMTS12_chr5_33518535_33896990	33835907	A A	ATCTTCTC others(22): Show ATCTTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0003 a0011c0015t0003	a0011c0015t0003g0041 a0011c0015t0003g0041	1	224	0.0045	29	c.489 others(48): Show c.489+45211_489+45212insGAGAGAGAGAGAGAGAGAGAGAGAGA AGA	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	2/23			chr5	TogoVar
ADAMTS12_chr5_33518535_33896990	33849615	A A	ACATATAT others(22): Show ACATATATGTACTGCATAGCAATACACATG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01069.hp2 HG01074.hp1 others(22): Show HG00323.hp1 HG01069.hp2 HG01074.hp1 HG01175.hp1 HG01192.hp2 HG01257.hp1 HG01261.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01978.hp2 HG01993.hp2 HG02293.hp2 HG02622.hp1 HG02683.hp2 HG02896.hp1 HG03225.hp2 HG03540.hp2 HG03927.hp2 NA18906.hp1 NA18940.hp2 NA18970.hp1 NA19000.hp1 NA19007.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0010 a0026	a0001c0001 a0001c0003 a0001c0008 others(8): Show a0001c0001 a0001c0003 a0001c0008 a0001c0027 a0001c0031 a0001c0035 a0001c0039 a0002c0002 a0003c0023 a0010c0014 a0026c0033	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(12): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0020 a0001c0003t0004 a0001c0003t0019 a0001c0008t0005 a0001c0027t0004 a0001c0031t0001 a0001c0035t0001 a0001c0039t0001 a0002c0002t0002 a0003c0023t0006 a0010c0014t0001 a0026c0033t0001	a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0029 others(22): Show a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0114 a0001c0001t0001g0177 a0001c0001t0004g0010 a0001c0001t0009g0199 a0001c0001t0020g0033 a0001c0003t0004g0020 a0001c0003t0019g0111 a0001c0008t0005g0028 a0001c0008t0005g0031 a0001c0027t0004g0026 a0001c0031t0001g0115 a0001c0035t0001g0036 a0001c0039t0001g0032 a0002c0002t0002g0011 a0002c0002t0002g0019 a0002c0002t0002g0030 a0002c0002t0002g0116 a0003c0023t0006g0035 a0010c0014t0001g0110 a0010c0014t0001g0112 a0026c0033t0001g0195	25	224	0.1116	29	c.489 others(48): Show c.489+31503_489+31504insCATGTGTATTGCTATGCAGTACATAT ATG	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	2/23			chr5	TogoVar
ADAMTS17_chr15_99966437_100346975	99977399	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0045 a0003c0006t0045	a0003c0006t0045g0115 a0003c0006t0045g0115	1	228	0.0044	29	c.295 others(48): Show c.2950-1178_2950-1177insTATATATATATATATATATATATATA TAT	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	20/21			chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100276461	T T	TGGTGGGA others(22): Show TGGTGGGAGGGAGTGGGTGCCTGGTGGGAG	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0022 a0002c0011t0022	a0002c0011t0022g0103 a0002c0011t0022g0103	1	228	0.0044	29	c.789 others(46): Show c.789+4739_789+4767dupCTCCCACCAGGCACCCACTCCCTCCCAC C	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	4/21			chr15	TogoVar
ADAMTS18_chr16_77277128_77440034	77314786	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03239.hp1 NA18946.hp1 HG03239.hp1 NA18946.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0002 a0003c0002t0007 a0001c0001t0002 a0003c0002t0007	a0001c0001t0002g0209 a0003c0002t0007g0182 a0001c0001t0002g0209 a0003c0002t0007g0182	2	326	0.0061	29	c.253 others(48): Show c.2532+5062_2532+5063insATATATATATATATATATATATATAT ATA	ADAMTS18	ENSG00000140873.16	transcript	ENST00000282849.10	protein_coding	16/22			chr16	TogoVar
ADAMTS18_chr16_77277128_77440034	77334721	A A	ATAGTATA others(22): Show ATAGTATATATACTGTATACTATAGTATAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp2 HG02015.hp1 HG02015.hp2	a0009 a0010 a0009 a0010	a0009c0009 a0010c0013 a0009c0009 a0010c0013	a0009c0009t0001 a0010c0013t0006 a0009c0009t0001 a0010c0013t0006	a0009c0009t0001g0170 a0010c0013t0006g0179 a0009c0009t0001g0170 a0010c0013t0006g0179	2	326	0.0061	29	c.185 others(48): Show c.1859+1034_1859+1035insATATACTATAGTATACAGTATATATA CTA	ADAMTS18	ENSG00000140873.16	transcript	ENST00000282849.10	protein_coding	12/22			chr16	TogoVar
ADAMTS19_chr5_129455298_129743683	129645885	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0007 a0007	a0007c0017 a0007c0017	a0007c0017t0002 a0007c0017t0002	a0007c0017t0002g0036 a0007c0017t0002g0036	1	226	0.0044	29	c.187 others(48): Show c.1873-1859_1873-1858insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS19_chr5_129455298_129743683	129658351	A A	AAGAAAGA others(22): Show AAGAAAGAAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0122 a0001c0006t0001g0122	1	226	0.0044	29	c.230 others(46): Show c.2305-258_2305-257insGAGAGAGAGAGAGAGAGAGAGAGAAAGA A	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	14/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS19_chr5_129455298_129743683	129658354	A A	AGAGAGAG others(22): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0056 a0001c0001t0005g0056	1	226	0.0044	29	c.230 others(46): Show c.2305-263_2305-262insGAGAGAGAGAGAGAGAGAGAGAGAGAGA G	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	14/22			chr5	TogoVar
ADAMTS19_chr5_129455298_129743683	129702941	A A	AAAAAAAT others(22): Show AAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	226	0.0044	29	c.316 others(48): Show c.3160-1297_3160-1296insAAAAATATATATATATATATATATAT ATA	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS19_chr5_129455298_129743683	129702941	A A	AAAAATAT others(22): Show AAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	226	0.0044	29	c.316 others(48): Show c.3160-1297_3160-1296insAAATATATATATATATATATATATAT ATA	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS20_chr12_43348866_43557203	43460988	A A	ATATATAT others(22): Show ATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0038 a0006c0008t0001g0038	1	306	0.0033	29	c.161 others(48): Show c.1614+1906_1614+1907insAAAAAAATATATATATATATATATAT ATA	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	11/38			chr12	TogoVar
ADAMTS20_chr12_43348866_43557203	43460988	A A	ATATATAT others(22): Show ATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	306	0.0033	29	c.161 others(48): Show c.1614+1906_1614+1907insAAAAAAAAATATATATATATATATAT ATA	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	11/38			chr12	TogoVar
ADAMTS20_chr12_43348866_43557203	43460988	A A	ATATATAT others(22): Show ATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG06807.hp2 NA18982.hp2 others(1): Show HG02698.hp2 HG06807.hp2 NA18982.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0043 a0001c0001t0001g0063 a0001c0001t0001g0088 others(1): Show a0001c0001t0001g0043 a0001c0001t0001g0063 a0001c0001t0001g0088 a0001c0001t0002g0275	4	306	0.0131	29	c.161 others(48): Show c.1614+1906_1614+1907insAAAAAAAAAAATATATATATATATAT ATA	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	11/38			chr12	TogoVar
ADAMTS2_chr5_179105853_179350461	179315238	C C	CTGGCTTC others(22): Show CTGGCTTCTGGAAAGCACTGAGGCCACAGT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01261.hp1 HG01934.hp2 others(15): Show HG01069.hp1 HG01261.hp1 HG01934.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp2 HG02145.hp1 HG02300.hp1 HG02486.hp2 HG02559.hp1 HG02615.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0009 a0010 a0028 a0032	a0001c0001 a0001c0004 a0001c0018 others(14): Show a0001c0001 a0001c0004 a0001c0018 a0001c0048 a0001c0052 a0001c0068 a0002c0002 a0002c0058 a0003c0003 a0003c0105 a0003c0106 a0004c0006 a0005c0019 a0009c0021 a0010c0036 a0028c0112 a0032c0045	a0001c0001t0001 a0001c0001t0004 a0001c0004t0002 others(15): Show a0001c0001t0001 a0001c0001t0004 a0001c0004t0002 a0001c0018t0002 a0001c0048t0004 a0001c0052t0002 a0001c0068t0001 a0002c0002t0001 a0002c0058t0002 a0003c0003t0001 a0003c0105t0012 a0003c0106t0002 a0004c0006t0001 a0005c0019t0003 a0009c0021t0009 a0010c0036t0004 a0028c0112t0001 a0032c0045t0003	a0001c0001t0001g0115 a0001c0001t0004g0064 a0001c0004t0002g0005 others(15): Show a0001c0001t0001g0115 a0001c0001t0004g0064 a0001c0004t0002g0005 a0001c0018t0002g0181 a0001c0048t0004g0195 a0001c0052t0002g0148 a0001c0068t0001g0023 a0002c0002t0001g0008 a0002c0058t0002g0068 a0003c0003t0001g0224 a0003c0105t0012g0209 a0003c0106t0002g0210 a0004c0006t0001g0249 a0005c0019t0003g0152 a0009c0021t0009g0093 a0010c0036t0004g0063 a0028c0112t0001g0206 a0032c0045t0003g0171	18	276	0.0652	29	c.534 others(48): Show c.534+28500_534+28528dupACTGTGGCCTCAGTGCTTTCCAGAAG CCA	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTS3_chr4_72275969_72574221	72450966	A A	AGGCAAAA others(22): Show AGGCAAAAAGAAGAGAAGAGAAGAGAAGAG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02723.hp2 HG03041.hp2 others(1): Show HG02622.hp1 HG02723.hp2 HG03041.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0002c0002t0005	a0001c0001t0001g0083 a0001c0001t0003g0021 a0001c0003t0001g0168 others(1): Show a0001c0001t0001g0083 a0001c0001t0003g0021 a0001c0003t0001g0168 a0002c0002t0005g0015	4	182	0.0220	29	c.505 others(48): Show c.505-35996_505-35995insCTCTTCTCTTCTCTTCTCTTCTTTTT GCC	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar

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