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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
DNAJC1_chr10_21751548_22008730	21813161	TCTCTCTC others(7): Show TCTCTCTCTCTCTCC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02886.hp2 HG01106.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0055 a0001c0001t0003g0007 a0001c0001t0001g0055 a0001c0001t0003g0007	2	164	0.0122	-14	c.979 others(31): Show c.979-7076_979-7063delGGAGAGAGAGAGAG		DNAJC1	ENSG00000136770.11	transcript	ENST00000376980.8	protein_coding	8/11						chr10	TogoVar
DNAJC1_chr10_21751548_22008730	21813175	CCTCTCTC others(7): Show CCTCTCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02258.hp2 HG03195.hp2 others(1): Show HG01243.hp2 HG02258.hp2 HG03195.hp2 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0004 a0003c0005t0001 a0001c0001t0001 a0001c0001t0004 a0003c0005t0001	a0001c0001t0001g0010 a0001c0001t0001g0106 a0001c0001t0004g0001 others(1): Show a0001c0001t0001g0010 a0001c0001t0001g0106 a0001c0001t0004g0001 a0003c0005t0001g0059	4	164	0.0244	-14	c.979 others(31): Show c.979-7090_979-7077delAGAGAGAGAGAGAG		DNAJC1	ENSG00000136770.11	transcript	ENST00000376980.8	protein_coding	8/11						chr10	TogoVar
DNAJC1_chr10_21751548_22008730	21813210	CTCTCTCT others(7): Show CTCTCTCTCTCTATA	C C	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	164	0.0061	-14	c.979 others(31): Show c.979-7125_979-7112delTATAGAGAGAGAGA		DNAJC1	ENSG00000136770.11	transcript	ENST00000376980.8	protein_coding	8/11						chr10	TogoVar
DNAJC1_chr10_21751548_22008730	21852092	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02895.hp2 HG02897.hp1 others(5): Show HG02486.hp2 HG02895.hp2 HG02897.hp1 HG03139.hp1 HG03225.hp2 HG03540.hp1 NA18522.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0001 a0002c0007t0002 a0001c0001t0001 a0002c0007t0002	a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 others(5): Show a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0113 a0001c0001t0001g0114 a0002c0007t0002g0161	8	164	0.0488	-14	c.978 others(33): Show c.978+30176_978+30189delGTGTGTGTGTGTGT		DNAJC1	ENSG00000136770.11	transcript	ENST00000376980.8	protein_coding	8/11						chr10	TogoVar
DNAJC1_chr10_21751548_22008730	21883251	AACACACA others(7): Show AACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	164	0.0061	-14	c.821 others(29): Show c.821-826_821-813delGTGTGTGTGTGTGT		DNAJC1	ENSG00000136770.11	transcript	ENST00000376980.8	protein_coding	7/11						chr10	TogoVar
DNAJC22_chr12_49341888_49358690	49343737	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 NA19074.hp1 HG02486.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0005 a0001c0001t0003g0007 a0001c0001t0002g0005 a0001c0001t0003g0007	2	362	0.0055	-14	c.-43 others(25): Show c.-4383_-4370delTTTTTTTTTTTTTT		DNAJC22	ENSG00000178401.16	transcript	ENST00000549441.7	protein_coding					3150		chr12	TogoVar
DNAJC2_chr7_103307289_103349767	103322973	AGGCTGGA others(7): Show AGGCTGGAGTGCAAT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0129 a0005c0006t0001g0129	1	406	0.0025	-14	c.720 others(29): Show c.720-193_720-180delATTGCACTCCAGCC		DNAJC2	ENSG00000105821.15	transcript	ENST00000379263.8	protein_coding	7/16						chr7	TogoVar
DNAJC3_chr13_95672139_95799988	95735407	CAATGGTT others(7): Show CAATGGTTGAACTAG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02572.hp1 HG02622.hp1 others(8): Show HG01884.hp1 HG02572.hp1 HG02622.hp1 HG02818.hp1 HG02896.hp1 HG02897.hp1 HG03453.hp2 HG03516.hp1 HG03540.hp1 NA18906.hp1 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0012 a0001c0001t0018 a0001c0001t0022 others(3): Show a0001c0001t0012 a0001c0001t0018 a0001c0001t0022 a0001c0001t0041 a0001c0001t0044 a0003c0005t0018	a0001c0001t0012g0362 a0001c0001t0012g0363 a0001c0001t0012g0364 others(8): Show a0001c0001t0012g0362 a0001c0001t0012g0363 a0001c0001t0012g0364 a0001c0001t0012g0365 a0001c0001t0018g0366 a0001c0001t0018g0368 a0001c0001t0022g0371 a0001c0001t0022g0372 a0001c0001t0041g0370 a0001c0001t0044g0367 a0003c0005t0018g0369	11	374	0.0294	-14	c.393 others(33): Show c.393+10156_393+10169delAATGGTTGAACTAG		DNAJC3	ENSG00000102580.15	transcript	ENST00000602402.6	protein_coding	4/11						chr13	TogoVar
DNAJC3_chr13_95672139_95799988	95763133	TTATACAG others(7): Show TTATACAGTTGGGAA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0297 a0001c0001t0001g0297	1	374	0.0027	-14	c.849 others(29): Show c.849-508_849-495delATACAGTTGGGAAT		DNAJC3	ENSG00000102580.15	transcript	ENST00000602402.6	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr13	TogoVar
DNAJC5B_chr8_66016553_66106245	66020594	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02965.hp1 HG02717.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0005 a0001c0001t0003 a0001c0002t0005	a0001c0001t0003g0080 a0001c0002t0005g0081 a0001c0001t0003g0080 a0001c0002t0005g0081	2	254	0.0079	-14	c.-12 others(25): Show c.-1252_-1239delTGTGTGTGTGTGTG		DNAJC5B	ENSG00000147570.10	transcript	ENST00000276570.10	protein_coding					958		chr8	TogoVar
DNAJC5G_chr2_27270433_27286499	27283770	ACACACAC others(7): Show ACACACACACGCGCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG01167.hp2 HG02622.hp2 others(2): Show HG00733.hp1 HG01167.hp2 HG02622.hp2 HG03453.hp1 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0005 a0002c0002t0004 a0002c0002t0005	a0002c0002t0004g0049 a0002c0002t0004g0050 a0002c0002t0004g0055 others(1): Show a0002c0002t0004g0049 a0002c0002t0004g0050 a0002c0002t0004g0055 a0002c0002t0005g0010	5	340	0.0147	-14	c.33 others(25): Show c.3361_*3374delCACACACACGCGCG		DNAJC5G	ENSG00000163793.13	transcript	ENST00000296097.8	protein_coding					2272		chr2	TogoVar
DNAJC6_chr1_65304543_65420871	65306972	TTCTCTCT others(7): Show TTCTCTCTCTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00597.hp1 HG00673.hp2 others(11): Show HG00099.hp1 HG00597.hp1 HG00673.hp2 HG00738.hp2 HG01167.hp1 HG01943.hp1 HG02071.hp2 HG02258.hp1 HG02280.hp2 HG02647.hp2 HG02895.hp2 HG02897.hp1 HG03579.hp2 NA18944.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0003 a0001c0005 a0002c0002 others(2): Show a0001c0003 a0001c0005 a0002c0002 a0002c0004 a0008c0017	a0001c0003t0003 a0001c0003t0004 a0001c0005t0002 others(5): Show a0001c0003t0003 a0001c0003t0004 a0001c0005t0002 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0004t0017 a0008c0017t0006	a0001c0003t0003g0049 a0001c0003t0004g0088 a0001c0005t0002g0185 others(10): Show a0001c0003t0003g0049 a0001c0003t0004g0088 a0001c0005t0002g0185 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0003g0173 a0002c0002t0004g0013 a0002c0002t0004g0300 a0002c0002t0004g0302 a0002c0004t0017g0166 a0008c0017t0006g0160	14	326	0.0429	-14	c.-27 others(25): Show c.-2773_-2760delTCTCTCTCTCTCTC		DNAJC6	ENSG00000116675.16	transcript	ENST00000371069.5	protein_coding					2570		chr1	TogoVar
DNAJC6_chr1_65304543_65420871	65307008	CTCTCTCT others(7): Show CTCTCTCTCTCTATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG03540.hp2 HG02630.hp1 HG03540.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0004 a0004c0009t0004	a0004c0009t0004g0050 a0004c0009t0004g0051 a0004c0009t0004g0050 a0004c0009t0004g0051	2	326	0.0061	-14	c.-27 others(25): Show c.-2737_-2724delTCTCTCTCTCTATA		DNAJC6	ENSG00000116675.16	transcript	ENST00000371069.5	protein_coding					2534		chr1	TogoVar
DNAJC6_chr1_65304543_65420871	65352432	ATGCACTA others(7): Show ATGCACTATCCATTG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02056.hp1 HG02074.hp1 others(12): Show HG00558.hp2 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 NA18947.hp1 NA18954.hp1 NA18956.hp1 NA18959.hp1 NA18962.hp1 NA18980.hp1 NA18984.hp1 NA18993.hp2 NA19011.hp1 NA19012.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0003 a0002c0002 a0009c0018 a0001c0003 a0002c0002 a0009c0018	a0001c0003t0001 a0002c0002t0001 a0002c0002t0003 others(1): Show a0001c0003t0001 a0002c0002t0001 a0002c0002t0003 a0009c0018t0001	a0001c0003t0001g0202 a0002c0002t0001g0176 a0002c0002t0001g0177 others(12): Show a0001c0003t0001g0202 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0196 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0003g0195 a0009c0018t0001g0197	15	326	0.0460	-14	c.194 others(33): Show c.194-12199_194-12186delACTATCCATTGTGC		DNAJC6	ENSG00000116675.16	transcript	ENST00000371069.5	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAJC6_chr1_65304543_65420871	65415449	AACACACA others(7): Show AACACACACACACAC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02071.hp1 NA19009.hp1 NA19060.hp1 HG02071.hp1 NA19009.hp1 NA19060.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0055 a0002c0002t0014g0060 a0002c0002t0014g0106 a0002c0002t0014g0055 a0002c0002t0014g0060 a0002c0002t0014g0106	3	326	0.0092	-14	c.24 others(25): Show c.2448_*2461delCACACACACACACA		DNAJC6	ENSG00000116675.16	transcript	ENST00000371069.5	protein_coding	19/19				2448	INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAJC8_chr1_28195278_28238029	28212164	AATAAATA others(7): Show AATAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01433.hp2 HG01891.hp1 others(4): Show HG01257.hp1 HG01433.hp2 HG01891.hp1 HG02145.hp2 HG02572.hp1 HG02622.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0142 a0001c0001t0002g0144 others(3): Show a0001c0001t0002g0013 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0148 a0001c0001t0002g0149	7	250	0.0280	-14	c.238 others(31): Show c.238-1541_238-1528delATATATATATTTAT		DNAJC8	ENSG00000126698.11	transcript	ENST00000263697.6	protein_coding	3/8						chr1	TogoVar
DNAJC8_chr1_28195278_28238029	28212168	AATATATA others(7): Show AATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02809.hp1 HG00639.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0218 a0001c0001t0002g0220	2	250	0.0080	-14	c.238 others(31): Show c.238-1545_238-1532delATATATATATATAT		DNAJC8	ENSG00000126698.11	transcript	ENST00000263697.6	protein_coding	3/8						chr1	TogoVar
DNASE1L1_chrX_154396236_154414254	154405520	GGGCCCCA others(7): Show GGGCCCCATTGGCCA	G G	frameshift_variant frameshift_variant	HIGH	NA19063.hp1 NA19063.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0027 a0005c0005t0027	a0005c0005t0027g0157 a0005c0005t0027g0157	1	279	0.0036	-14	c.35_ others(19): Show c.35_48delTGGCCAATGGGGCC	p.Leu others(4): Show p.Leu12fs	DNASE1L1	ENSG00000013563.14	transcript	ENST00000369807.6	protein_coding	2/8	278/2610	35/909	12/302			chrX	TogoVar
DNASE1L1_chrX_154396236_154414254	154407218	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 homoSapiens_chm13v2.hp1 HG00099.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0038 a0001c0001t0012g0038	2	279	0.0072	-14	c.-87 others(31): Show c.-87-1577_-87-1564delAAAAAAAAAAAAAA		DNASE1L1	ENSG00000013563.14	transcript	ENST00000369807.6	protein_coding	1/7						chrX	TogoVar
DNASE1L3_chr3_58187257_58215972	58187645	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG03098.hp1 NA20129.hp1 HG02976.hp1 HG03098.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0003 a0001c0003t0001 a0001c0001t0001 a0001c0002t0003 a0001c0003t0001	a0001c0001t0001g0124 a0001c0002t0003g0127 a0001c0003t0001g0013 a0001c0001t0001g0124 a0001c0002t0003g0127 a0001c0003t0001g0013	3	372	0.0081	-14	c.50 others(25): Show c.5028_*5041delACACACACACACAC		DNASE1L3	ENSG00000163687.14	transcript	ENST00000394549.7	protein_coding					4611		chr3	TogoVar
DNASE1L3_chr3_58187257_58215972	58210206	AGAAGAAA others(7): Show AGAAGAAAGAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00558.hp1 others(133): Show HG00408.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00639.hp1 HG00733.hp1 HG00733.hp2 HG00741.hp2 HG01081.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01361.hp1 HG01517.hp1 HG01884.hp2 HG01928.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02055.hp2 HG02129.hp1 HG02148.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02738.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03516.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp2 HG04228.hp2 NA18522.hp2 NA18906.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18961.hp1 NA18964.hp2 NA18968.hp2 NA18974.hp1 NA18978.hp2 NA18979.hp2 NA18981.hp1 NA18985.hp2 NA18988.hp2 NA18994.hp1 NA18994.hp2 NA19001.hp1 NA19004.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19055.hp1 NA19057.hp1 NA19062.hp2 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19078.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19087.hp2 NA19089.hp1 NA19091.hp2 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0004 others(1): Show a0001c0001 a0001c0003 a0002c0004 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0003t0002 a0002c0004t0002 a0003c0006t0002	a0001c0001t0001g0016 a0001c0001t0001g0030 a0001c0001t0001g0031 others(109): Show a0001c0001t0001g0016 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0006g0115 a0001c0001t0006g0118 a0001c0003t0002g0105 a0002c0004t0002g0035 a0002c0004t0002g0036 a0002c0004t0002g0037 a0002c0004t0002g0038 a0002c0004t0002g0039 a0002c0004t0002g0074 a0002c0004t0002g0075 a0002c0004t0002g0076 a0002c0004t0002g0077 a0002c0004t0002g0078 a0003c0006t0002g0104 a0003c0006t0002g0121	136	372	0.3656	-14	c.141 others(29): Show c.141+546_141+559delCTTTTTCTTTCTTC		DNASE1L3	ENSG00000163687.14	transcript	ENST00000394549.7	protein_coding	1/7						chr3	TogoVar
DNASE2B_chr1_84393484_84420018	84396603	ATCTCTCT others(7): Show ATCTCTCTCTCTCTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02486.hp1 HG06807.hp1 others(3): Show HG02055.hp1 HG02486.hp1 HG06807.hp1 NA18971.hp1 NA19063.hp1 NA19084.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0006 others(1): Show a0001c0001 a0002c0002 a0003c0006 a0005c0009	a0001c0001t0001 a0002c0002t0001 a0003c0006t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0006t0001 a0005c0009t0001	a0001c0001t0001g0001 a0002c0002t0001g0006 a0003c0006t0001g0043 others(2): Show a0001c0001t0001g0001 a0002c0002t0001g0006 a0003c0006t0001g0043 a0005c0009t0001g0033 a0005c0009t0001g0083	6	426	0.0141	-14	c.-19 others(25): Show c.-1961_-1948delTCTCTCTCTCTCTC		DNASE2B	ENSG00000137976.8	transcript	ENST00000370665.4	protein_coding					1880		chr1	TogoVar
DNASE2B_chr1_84393484_84420018	84411425	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01257.hp2 HG01258.hp2 others(16): Show HG00558.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01433.hp2 HG01975.hp1 HG01975.hp2 HG02683.hp2 HG02698.hp2 NA18612.hp2 NA18747.hp2 NA18940.hp2 NA18956.hp1 NA18969.hp2 NA18971.hp1 NA18989.hp2 NA18995.hp2 NA19006.hp1 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0001 a0001c0003t0001 a0002c0002t0001	a0001c0003t0001g0047 a0001c0003t0001g0093 a0002c0002t0001g0006 others(5): Show a0001c0003t0001g0047 a0001c0003t0001g0093 a0002c0002t0001g0006 a0002c0002t0001g0018 a0002c0002t0001g0056 a0002c0002t0001g0059 a0002c0002t0001g0078 a0002c0002t0001g0081	19	426	0.0446	-14	c.547 others(29): Show c.547+471_547+484delGTGTGTGTGTGTGT		DNASE2B	ENSG00000137976.8	transcript	ENST00000370665.4	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
DNASE2B_chr1_84393484_84420018	84411470	GTGTGTGT others(7): Show GTGTGTGTGTGTGTC	G G	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA19010.hp2 NA18952.hp1 NA19010.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0048 a0001c0003t0001g0048	2	426	0.0047	-14	c.547 others(29): Show c.547+472_547+485delTGTGTGTGTGTGTC		DNASE2B	ENSG00000137976.8	transcript	ENST00000370665.4	protein_coding	4/5						chr1	TogoVar
DNER_chr2_229352629_229719555	229388592	AATATATA others(7): Show AATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01167.hp2 HG01261.hp2 others(7): Show HG01071.hp2 HG01167.hp2 HG01261.hp2 HG02602.hp1 HG03017.hp2 HG03486.hp1 HG03516.hp1 HG04199.hp1 NA19012.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0051 a0001c0001t0001g0062 others(7): Show a0001c0001t0001g0003 a0001c0001t0001g0051 a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0001t0001g0085 a0001c0001t0001g0099 a0001c0001t0001g0131 a0001c0002t0001g0155 a0001c0002t0001g0172 a0001c0002t0001g0173	10	176	0.0568	-14	c.172 others(31): Show c.1724-210_1724-197delATATATATATATAT		DNER	ENSG00000187957.8	transcript	ENST00000341772.5	protein_coding	10/12						chr2	TogoVar
DNER_chr2_229352629_229719555	229586508	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00597.hp2 others(38): Show HG00438.hp1 HG00597.hp1 HG00597.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01167.hp2 HG01261.hp1 HG01261.hp2 HG02145.hp1 HG02451.hp1 HG02622.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp2 HG02895.hp1 HG02976.hp2 HG03225.hp1 HG03453.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03579.hp2 HG03669.hp2 NA18906.hp2 NA18948.hp2 NA19007.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19075.hp1 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19240.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0013 others(1): Show a0001c0001 a0001c0002 a0001c0013 a0005c0014	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0003 a0001c0013t0001 a0005c0014t0001	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0020 others(38): Show a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0003g0036 a0001c0001t0004g0091 a0001c0002t0001g0158 a0001c0002t0001g0161 a0001c0002t0001g0163 a0001c0002t0001g0165 a0001c0002t0001g0167 a0001c0002t0003g0174 a0001c0013t0001g0162 a0005c0014t0001g0157	41	176	0.2330	-14	c.681 others(29): Show c.681-498_681-485delTTTTTTTTTTTTTT		DNER	ENSG00000187957.8	transcript	ENST00000341772.5	protein_coding	3/12						chr2	TogoVar
DNER_chr2_229352629_229719555	229586537	AAAAAAAA others(7): Show AAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02886.hp1 HG02976.hp1 others(1): Show HG02109.hp1 HG02886.hp1 HG02976.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0032 a0001c0001t0001g0053 a0001c0001t0001g0088 others(1): Show a0001c0001t0001g0032 a0001c0001t0001g0053 a0001c0001t0001g0088 a0001c0001t0002g0058	4	176	0.0227	-14	c.681 others(29): Show c.681-527_681-514delGTTTTTTTTTTTTT		DNER	ENSG00000187957.8	transcript	ENST00000341772.5	protein_coding	3/12						chr2	TogoVar
DNER_chr2_229352629_229719555	229594952	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00438.hp1 others(88): Show HG00140.hp1 HG00140.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01243.hp1 HG01255.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01516.hp1 HG01516.hp2 HG01981.hp1 HG01981.hp2 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02451.hp1 HG02451.hp2 HG02630.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03453.hp2 HG03486.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03927.hp1 HG03927.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18612.hp2 NA18906.hp2 NA18948.hp2 NA18968.hp2 NA18994.hp2 NA18998.hp2 NA18999.hp2 NA19007.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19066.hp2 NA19070.hp1 NA19075.hp1 NA19075.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19240.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0009 a0001c0001 a0001c0002 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0003 a0007c0009t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 others(88): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0002g0058 a0001c0001t0003g0036 a0001c0001t0003g0141 a0001c0001t0004g0091 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0161 a0001c0002t0001g0165 a0001c0002t0001g0167 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0175 a0001c0002t0003g0174 a0007c0009t0001g0070	91	176	0.5171	-14	c.277 others(31): Show c.277-3078_277-3065delTTTTTTTTTTTTTT		DNER	ENSG00000187957.8	transcript	ENST00000341772.5	protein_coding	1/12						chr2	TogoVar
DNER_chr2_229352629_229719555	229668528	GTGTGTGT others(7): Show GTGTGTGTGTATATA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02451.hp1 HG03579.hp2 others(2): Show HG00741.hp2 HG02451.hp1 HG03579.hp2 HG06807.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0074 others(2): Show a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0074 a0001c0001t0001g0105 a0001c0005t0001g0017	5	176	0.0284	-14	c.276 others(33): Show c.276+45606_276+45619delTATATACACACACA		DNER	ENSG00000187957.8	transcript	ENST00000341772.5	protein_coding	1/12						chr2	TogoVar
DNER_chr2_229352629_229719555	229684135	TCTGTGTA others(7): Show TCTGTGTATGTGAGA	T T	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	176	0.0057	-14	c.276 others(33): Show c.276+29999_276+30012delTCTCACATACACAG		DNER	ENSG00000187957.8	transcript	ENST00000341772.5	protein_coding	1/12						chr2	TogoVar
DNM1L_chr12_32674301_32750650	32740010	TTAGTTAA others(7): Show TTAGTTAAGGTCAGA	T T	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG03834.hp2 HG03927.hp1 others(1): Show HG02132.hp2 HG03834.hp2 HG03927.hp1 HG04204.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0216 a0001c0003t0010g0217 a0001c0003t0010g0218 others(1): Show a0001c0003t0010g0216 a0001c0003t0010g0217 a0001c0003t0010g0218 a0001c0003t0010g0219	4	230	0.0174	-14	c.170 others(29): Show c.1708-51_1708-38delGTTAAGGTCAGATA		DNM1L	ENSG00000087470.21	transcript	ENST00000549701.6	protein_coding	16/19					INFO_REALIGN_3_PRIME	chr12	TogoVar
DNM1_chr9_128198379_128260244	128210026	TTGTTTTG others(7): Show TTGTTTTGTTTTGTC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02300.hp1 HG01099.hp1 HG02300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0100 a0001c0002t0001g0209 a0001c0002t0001g0100 a0001c0002t0001g0209	2	350	0.0057	-14	c.161 others(31): Show c.161+6409_161+6422delCTGTTTTGTTTTGT		DNM1	ENSG00000106976.22	transcript	ENST00000372923.8	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr9	TogoVar
DNM1_chr9_128198379_128260244	128220961	TTCTTTCT others(7): Show TTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02055.hp1 HG02647.hp2 others(5): Show HG01109.hp1 HG02055.hp1 HG02647.hp2 HG02723.hp2 HG02922.hp2 HG03486.hp1 HG03540.hp1 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0011 a0001c0003 a0001c0011	a0001c0003t0001 a0001c0011t0001 a0001c0003t0001 a0001c0011t0001	a0001c0003t0001g0061 a0001c0003t0001g0239 a0001c0003t0001g0240 others(5): Show a0001c0003t0001g0061 a0001c0003t0001g0239 a0001c0003t0001g0240 a0001c0003t0001g0241 a0001c0003t0001g0242 a0001c0003t0001g0244 a0001c0003t0001g0346 a0001c0011t0001g0006	8	350	0.0229	-14	c.849 others(29): Show c.849+636_849+649delCTTTCTTTCTTTCT		DNM1	ENSG00000106976.22	transcript	ENST00000372923.8	protein_coding	6/21					INFO_REALIGN_3_PRIME	chr9	TogoVar
DNM1_chr9_128198379_128260244	128239567	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA18906.hp1 HG03225.hp1 NA18906.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0025 a0001c0007t0001g0343 a0001c0007t0001g0025 a0001c0007t0001g0343	2	350	0.0057	-14	c.149 others(30): Show c.1493+89_1493+102delGTGTGTGTGTGTGT		DNM1	ENSG00000106976.22	transcript	ENST00000372923.8	protein_coding	12/21					INFO_REALIGN_3_PRIME	chr9	TogoVar
DNM2_chr19_10713079_10836903	10836075	CGGCAACA others(7): Show CGGCAACAGGAACGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	278	0.0036	-14	c.50 others(25): Show c.5029_*5042delGGCAACAGGAACGT		DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding					4173		chr19	TogoVar
DNM3_chr1_171836498_172417717	171883363	CCACACAC others(7): Show CCACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp1 HG02559.hp2 others(1): Show HG02258.hp1 HG02451.hp1 HG02559.hp2 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0010 a0001c0002t0001 a0001c0002t0010	a0001c0002t0001g0111 a0001c0002t0001g0135 a0001c0002t0010g0133 others(1): Show a0001c0002t0001g0111 a0001c0002t0001g0135 a0001c0002t0010g0133 a0001c0002t0010g0134	4	136	0.0294	-14	c.162 others(33): Show c.162-38347_162-38334delACACACACACACAC		DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
DNM3_chr1_171836498_172417717	171883401	ACACACAC others(7): Show ACACACACACACACC	A A	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp2 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0123 a0001c0002t0001g0052 a0001c0001t0002g0123 a0001c0002t0001g0052	2	136	0.0147	-14	c.162 others(33): Show c.162-38345_162-38332delACACACACACACCC		DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
DNM3_chr1_171836498_172417717	172010682	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0012 a0001c0002t0020g0012	1	136	0.0074	-14	c.589 others(33): Show c.589+21562_589+21575delGTGTGTGTGTGTGT		DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	4/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
DNM3_chr1_171836498_172417717	172032526	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02451.hp2 HG02071.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0002 a0001c0008t0026 a0001c0001t0002 a0001c0008t0026	a0001c0001t0002g0090 a0001c0008t0026g0113 a0001c0001t0002g0090 a0001c0008t0026g0113	2	136	0.0147	-14	c.688 others(27): Show c.688+42_688+55delTTTTTTTTTTTTTT		DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	5/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
DNM3_chr1_171836498_172417717	172071086	CATATATA others(7): Show CATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02622.hp1 HG03209.hp2 HG02615.hp1 HG02622.hp1 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006	a0001c0002t0002g0128 a0001c0002t0004g0015 a0001c0002t0006g0013 a0001c0002t0002g0128 a0001c0002t0004g0015 a0001c0002t0006g0013	3	136	0.0221	-14	c.142 others(33): Show c.1422+2202_1422+2215delATATATATATATAT		DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	11/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
DNM3_chr1_171836498_172417717	172227271	GATATATA others(7): Show GATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03195.hp2 HG02451.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0004 a0001c0008t0026 a0001c0002t0004 a0001c0008t0026	a0001c0002t0004g0014 a0001c0008t0026g0113 a0001c0002t0004g0014 a0001c0008t0026g0113	2	136	0.0147	-14	c.166 others(35): Show c.1660-26281_1660-26268delATATATATATATAT		DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	14/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
DNM3_chr1_171836498_172417717	172359125	AACACACA others(7): Show AACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0096 a0001c0001t0033g0096	1	136	0.0074	-14	c.189 others(35): Show c.1894-19869_1894-19856delCACACACACACACA		DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	17/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
DNMBP_chr10_99870577_100014947	99986594	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(82): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00438.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01081.hp2 HG01123.hp1 HG01175.hp1 HG01255.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01517.hp1 HG01884.hp1 HG01928.hp2 HG01934.hp1 HG01981.hp1 HG02015.hp1 HG02056.hp1 HG02083.hp1 HG02109.hp2 HG02258.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02647.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG04184.hp2 HG04204.hp1 NA18906.hp2 NA18944.hp1 NA18950.hp2 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp2 NA18971.hp2 NA18982.hp1 NA18985.hp1 NA18998.hp2 NA19003.hp1 NA19004.hp2 NA19011.hp1 NA19056.hp1 NA19057.hp1 NA19066.hp1 NA19074.hp1 NA19074.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0009 a0013	a0001c0003 a0001c0006 a0001c0009 others(8): Show a0001c0003 a0001c0006 a0001c0009 a0001c0017 a0001c0018 a0001c0028 a0002c0002 a0002c0010 a0006c0019 a0009c0029 a0013c0026	a0001c0003t0002 a0001c0003t0003 a0001c0006t0001 others(14): Show a0001c0003t0002 a0001c0003t0003 a0001c0006t0001 a0001c0006t0004 a0001c0009t0005 a0001c0017t0002 a0001c0018t0001 a0001c0018t0004 a0001c0028t0002 a0002c0002t0001 a0002c0002t0008 a0002c0002t0021 a0002c0002t0022 a0002c0010t0001 a0006c0019t0001 a0009c0029t0002 a0013c0026t0001	a0001c0003t0002g0178 a0001c0003t0002g0181 a0001c0003t0002g0191 others(82): Show a0001c0003t0002g0178 a0001c0003t0002g0181 a0001c0003t0002g0191 a0001c0003t0002g0193 a0001c0003t0002g0221 a0001c0003t0002g0231 a0001c0003t0002g0232 a0001c0003t0002g0233 a0001c0003t0002g0235 a0001c0003t0002g0260 a0001c0003t0002g0266 a0001c0003t0003g0003 a0001c0006t0001g0244 a0001c0006t0004g0183 a0001c0006t0004g0242 a0001c0006t0004g0243 a0001c0009t0005g0236 a0001c0009t0005g0265 a0001c0017t0002g0144 a0001c0017t0002g0190 a0001c0018t0001g0238 a0001c0018t0004g0249 a0001c0028t0002g0239 a0002c0002t0001g0005 a0002c0002t0001g0143 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0150 a0002c0002t0001g0170 a0002c0002t0001g0177 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0192 a0002c0002t0001g0194 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0222 a0002c0002t0001g0224 a0002c0002t0001g0229 a0002c0002t0001g0237 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0250 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0267 a0002c0002t0008g0207 a0002c0002t0008g0218 a0002c0002t0021g0223 a0002c0002t0022g0206 a0002c0010t0001g0029 a0002c0010t0001g0035 a0002c0010t0001g0049 a0002c0010t0001g0187 a0002c0010t0001g0195 a0002c0010t0001g0200 a0002c0010t0001g0202 a0006c0019t0001g0148 a0006c0019t0001g0149 a0009c0029t0002g0248 a0013c0026t0001g0199	85	274	0.3102	-14	c.-10 others(33): Show c.-10-14474_-10-14461delTTTTTTTTTTTTTT		DNMBP	ENSG00000107554.17	transcript	ENST00000324109.9	protein_coding	1/16						chr10	TogoVar
DNMBP_chr10_99870577_100014947	99990782	TACACACA others(7): Show TACACACATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01516.hp1 HG02630.hp1 others(9): Show HG00738.hp1 HG01516.hp1 HG02630.hp1 HG02717.hp1 HG02922.hp1 HG03579.hp2 HG03834.hp1 HG04184.hp1 HG04228.hp2 HG06807.hp2 NA19030.hp2 NA19043.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0001c0006 a0001c0009 others(1): Show a0001c0003 a0001c0006 a0001c0009 a0004c0014	a0001c0003t0003 a0001c0006t0004 a0001c0009t0005 others(1): Show a0001c0003t0003 a0001c0006t0004 a0001c0009t0005 a0004c0014t0006	a0001c0003t0003g0274 a0001c0006t0004g0169 a0001c0006t0004g0252 others(9): Show a0001c0003t0003g0274 a0001c0006t0004g0169 a0001c0006t0004g0252 a0001c0006t0004g0253 a0001c0009t0005g0168 a0001c0009t0005g0251 a0001c0009t0005g0270 a0001c0009t0005g0272 a0001c0009t0005g0273 a0004c0014t0006g0117 a0004c0014t0006g0118 a0004c0014t0006g0119	12	274	0.0438	-14	c.-10 others(33): Show c.-10-18662_-10-18649delGTATATATGTGTGT		DNMBP	ENSG00000107554.17	transcript	ENST00000324109.9	protein_coding	1/16						chr10	TogoVar
DNMBP_chr10_99870577_100014947	100001233	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0011 a0011	a0011c0023 a0011c0023	a0011c0023t0003 a0011c0023t0003	a0011c0023t0003g0162 a0011c0023t0003g0162	1	274	0.0037	-14	c.-11 others(31): Show c.-11+8591_-11+8604delTTTTTTTTTTTTTT		DNMBP	ENSG00000107554.17	transcript	ENST00000324109.9	protein_coding	1/16						chr10	TogoVar
DNMBP_chr10_99870577_100014947	100005772	AAAAAAAA others(7): Show AAAAAAAAAAAAACC	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0150 a0002c0002t0001g0150	1	274	0.0037	-14	c.-11 others(31): Show c.-11+4052_-11+4065delGGTTTTTTTTTTTT		DNMBP	ENSG00000107554.17	transcript	ENST00000324109.9	protein_coding	1/16						chr10	TogoVar
DNMT1_chr19_10128346_10199953	10161210	CAGGAGAA others(7): Show CAGGAGAATAGCTTG	C C	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0035 a0002c0003t0001g0035	1	386	0.0026	-14	c.100 others(31): Show c.1009-806_1009-793delCAAGCTATTCTCCT		DNMT1	ENSG00000130816.17	transcript	ENST00000359526.9	protein_coding	13/40						chr19	TogoVar
DNMT1_chr19_10128346_10199953	10164913	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp1 HG02486.hp2 others(6): Show HG01891.hp1 HG02145.hp1 HG02486.hp2 HG02630.hp1 HG02630.hp2 HG02723.hp1 HG02896.hp1 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 others(6): Show a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0210	9	386	0.0233	-14	c.892 others(31): Show c.892-1567_892-1554delTTTTTTTTTTTTTT		DNMT1	ENSG00000130816.17	transcript	ENST00000359526.9	protein_coding	11/40						chr19	TogoVar
DNMT1_chr19_10128346_10199953	10175116	CACACACA others(7): Show CACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03471.hp2 HG02572.hp1 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0017 a0001c0002t0001g0018	2	386	0.0052	-14	c.648 others(29): Show c.648+410_648+423delATGTGTGTGTGTGT		DNMT1	ENSG00000130816.17	transcript	ENST00000359526.9	protein_coding	7/40						chr19	TogoVar
DNMT1_chr19_10128346_10199953	10182413	ATGTGTAT others(7): Show ATGTGTATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0191 a0001c0002t0001g0191	1	386	0.0026	-14	c.81- others(27): Show c.81-350_81-337delCATATATATACACA		DNMT1	ENSG00000130816.17	transcript	ENST00000359526.9	protein_coding	1/40						chr19	TogoVar

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