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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DUXA_chr19_57149021_57172485	57172072	GGGGCGCG others(9): Show GGGGCGCGCGAGGGGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00642.hp2 NA18961.hp1 HG00621.hp2 HG00642.hp2 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0264 a0001c0001t0001g0319 a0001c0001t0002g0185 a0001c0001t0001g0264 a0001c0001t0001g0319 a0001c0001t0002g0185	3	446	0.0067	-16	c.-46 others(27): Show c.-4645_-4630delGCCCCCTCGCGCGCCC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4588		chr19	TogoVar
DUXA_chr19_57149021_57172485	57172089	GGGGCGCG others(9): Show GGGGCGCGCGAGGGGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02965.hp2 NA19002.hp1 HG02809.hp1 HG02965.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0068 a0001c0001t0001g0252 a0001c0001t0002g0347 a0001c0001t0001g0068 a0001c0001t0001g0252 a0001c0001t0002g0347	3	446	0.0067	-16	c.-46 others(27): Show c.-4662_-4647delGCCCCCTCGCGCGCCC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4605		chr19	TogoVar
DUXA_chr19_57149021_57172485	57172100	GGGGGCGG others(9): Show GGGGGCGGGGCGCGCGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG03942.hp1 HG01256.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0311 a0001c0001t0002g0332 a0001c0001t0001g0311 a0001c0001t0002g0332	2	446	0.0045	-16	c.-46 others(27): Show c.-4673_-4658delTCGCGCGCCCCGCCCC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4616		chr19	TogoVar
DUXA_chr19_57149021_57172485	57172117	GGGGGCGG others(9): Show GGGGGCGGGGCGCGCGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0329 a0001c0001t0001g0329	1	446	0.0022	-16	c.-46 others(27): Show c.-4690_-4675delTCGCGCGCCCCGCCCC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4633		chr19	TogoVar
DUXA_chr19_57149021_57172485	57172174	GGGGCGCG others(9): Show GGGGCGCGCGAGGGGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	446	0.0022	-16	c.-47 others(27): Show c.-4747_-4732delGCCCCCTCGCGCGCCC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4690		chr19	TogoVar
DUXA_chr19_57149021_57172485	57172191	GGGGCGCG others(9): Show GGGGCGCGCGAGGGGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG04199.hp2 HG02165.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0105 a0001c0001t0001g0109	2	446	0.0045	-16	c.-47 others(27): Show c.-4764_-4749delGCCCCCTCGCGCGCCC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4707		chr19	TogoVar
DVL1_chr1_1330278_1354418	1341063	ACCTGCAC others(9): Show ACCTGCACACACGCACC	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	344	0.0029	-16	c.606 others(31): Show c.606-576_606-561delGGTGCGTGTGTGCAGG	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding	5/14			chr1	TogoVar
DVL1_chr1_1330278_1354418	1341074	CGCACCCC others(9): Show CGCACCCCTGCACACAG	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG01109.hp2 others(26): Show HG00642.hp1 HG00642.hp2 HG01109.hp2 HG01192.hp2 HG01515.hp1 HG02132.hp1 HG02257.hp1 HG02258.hp2 HG02451.hp1 HG02615.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02922.hp2 HG02970.hp1 HG03098.hp1 HG03139.hp1 HG03225.hp2 HG03471.hp2 HG03540.hp1 HG03579.hp1 HG04115.hp1 HG06807.hp2 NA19030.hp2 NA19043.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0004 a0002c0002t0005 a0001c0001t0001 a0002c0002t0004 a0002c0002t0005	a0001c0001t0001g0012 a0001c0001t0001g0038 a0001c0001t0001g0078 others(8): Show a0001c0001t0001g0012 a0001c0001t0001g0038 a0001c0001t0001g0078 a0001c0001t0001g0095 a0001c0001t0001g0120 a0002c0002t0004g0009 a0002c0002t0004g0062 a0002c0002t0004g0063 a0002c0002t0004g0064 a0002c0002t0004g0065 a0002c0002t0005g0006	29	344	0.0843	-16	c.605 others(31): Show c.605+577_606-572delCTGTGTGCAGGGGTGC	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding	5/14			chr1	TogoVar
DYM_chr18_49031387_49465645	49097874	GCTCTCTC others(9): Show GCTCTCTCTCTCTCTCT	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0115 a0001c0001t0003g0115	1	290	0.0035	-16	c.191 others(33): Show c.1912-375_1912-360delAGAGAGAGAGAGAGAG	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	16/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49166989	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0239 a0001c0001t0020g0239	1	290	0.0035	-16	c.162 others(35): Show c.1626-3218_1626-3203delACACACACACACACAC	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	14/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49254281	CATATATA others(9): Show CATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG01884.hp1 others(15): Show HG00408.hp2 HG00423.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG02027.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03195.hp2 HG03209.hp2 NA18947.hp2 NA18950.hp2 NA19004.hp2 NA19030.hp2 NA19063.hp1 NA19079.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0006c0005	a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 others(7): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0036 a0001c0002t0001 a0001c0003t0025 a0001c0003t0027 a0001c0007t0002 a0006c0005t0039	a0001c0001t0003g0071 a0001c0001t0003g0088 a0001c0001t0003g0089 others(15): Show a0001c0001t0003g0071 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0103 a0001c0001t0005g0276 a0001c0001t0007g0002 a0001c0001t0007g0105 a0001c0001t0007g0106 a0001c0001t0010g0272 a0001c0001t0010g0273 a0001c0001t0010g0274 a0001c0001t0010g0275 a0001c0001t0036g0148 a0001c0002t0001g0236 a0001c0003t0025g0278 a0001c0003t0027g0277 a0001c0007t0002g0098 a0006c0005t0039g0110	18	290	0.0621	-16	c.146 others(35): Show c.1460+2713_1460+2728delATATATATATATATAT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	13/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49283020	ATAAGTTG others(9): Show ATAAGTTGAAAATATTC	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0105 a0001c0001t0007g0105	1	290	0.0035	-16	c.947 others(31): Show c.947-861_947-846delGAATATTTTCAACTTA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	9/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49285702	GCCTAATG others(9): Show GCCTAATGGAACACAGC	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0243 a0001c0001t0011g0243	1	290	0.0035	-16	c.946 others(31): Show c.946+716_946+731delGCTGTGTTCCATTAGG	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	9/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49289727	GTATATAT others(9): Show GTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA19012.hp1 NA19030.hp1 others(1): Show HG03579.hp2 NA19012.hp1 NA19030.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0085 a0001c0002t0001g0149 a0001c0002t0001g0150 others(1): Show a0001c0001t0003g0085 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151	4	290	0.0138	-16	c.764 others(33): Show c.764-3127_764-3112delTATATATATATATATA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49289760	TATATATA others(9): Show TATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0274 a0001c0001t0010g0274	1	290	0.0035	-16	c.764 others(33): Show c.764-3160_764-3145delGTGTATATATATATAT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49289778	TATATATA others(9): Show TATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG03491.hp1 HG03710.hp2 others(3): Show HG01361.hp1 HG03491.hp1 HG03710.hp2 NA18612.hp1 NA18954.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0021 a0001c0001t0003 a0001c0001t0021	a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 others(3): Show a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0231 a0001c0001t0021g0225 a0001c0001t0021g0234	6	290	0.0207	-16	c.764 others(33): Show c.764-3178_764-3163delGTGTGTATATATATAT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49292336	GCAGACAG others(9): Show GCAGACAGACAGACAGA	G G	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG03831.hp2 HG02155.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0032 a0001c0001t0008 a0001c0001t0032	a0001c0001t0008g0019 a0001c0001t0032g0013 a0001c0001t0008g0019 a0001c0001t0032g0013	2	290	0.0069	-16	c.764 others(33): Show c.764-5736_764-5721delTCTGTCTGTCTGTCTG	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49292592	GAAAAAAA others(9): Show GAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG00642.hp1 others(67): Show HG00544.hp2 HG00597.hp1 HG00642.hp1 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01109.hp2 HG01256.hp1 HG01261.hp2 HG01358.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01981.hp2 HG02074.hp1 HG02132.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02647.hp1 HG02683.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02886.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 NA18946.hp1 NA18947.hp2 NA18955.hp1 NA18961.hp1 NA18971.hp1 NA18992.hp1 NA19003.hp1 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19063.hp1 NA19064.hp2 NA19068.hp2 NA19077.hp2 NA19079.hp2 NA19084.hp2 NA19240.hp2 NA20905.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0007 a0004c0008 others(1): Show a0001c0001 a0001c0007 a0004c0008 a0006c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0035 a0001c0001t0038 a0001c0001t0041 a0001c0007t0002 a0004c0008t0005 a0006c0005t0039	a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0003g0010 others(67): Show a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0003g0010 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0252 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0271 a0001c0001t0004g0267 a0001c0001t0005g0121 a0001c0001t0005g0250 a0001c0001t0005g0251 a0001c0001t0005g0254 a0001c0001t0005g0258 a0001c0001t0005g0259 a0001c0001t0005g0261 a0001c0001t0005g0262 a0001c0001t0005g0266 a0001c0001t0005g0268 a0001c0001t0005g0269 a0001c0001t0005g0276 a0001c0001t0007g0002 a0001c0001t0007g0105 a0001c0001t0007g0106 a0001c0001t0007g0107 a0001c0001t0007g0108 a0001c0001t0007g0111 a0001c0001t0007g0120 a0001c0001t0013g0070 a0001c0001t0013g0086 a0001c0001t0013g0087 a0001c0001t0028g0270 a0001c0001t0029g0260 a0001c0001t0031g0114 a0001c0001t0035g0264 a0001c0001t0038g0109 a0001c0001t0041g0290 a0001c0007t0002g0098 a0004c0008t0005g0263 a0006c0005t0039g0110	70	290	0.2414	-16	c.764 others(33): Show c.764-5992_764-5977delTTTTTTTTTTTTTTTT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49300059	CTATATAT others(9): Show CTATATATATAAATATA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02071.hp1 HG02559.hp2 others(7): Show HG01884.hp1 HG02071.hp1 HG02559.hp2 HG03209.hp2 HG03516.hp1 HG03688.hp1 HG03831.hp1 HG04199.hp1 HG04204.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0009 a0001c0003t0024 others(3): Show a0001c0001t0001 a0001c0003t0009 a0001c0003t0024 a0001c0003t0025 a0001c0003t0026 a0001c0003t0027	a0001c0001t0001g0068 a0001c0003t0009g0003 a0001c0003t0009g0004 others(7): Show a0001c0001t0001g0068 a0001c0003t0009g0003 a0001c0003t0009g0004 a0001c0003t0009g0005 a0001c0003t0009g0006 a0001c0003t0009g0007 a0001c0003t0024g0008 a0001c0003t0025g0278 a0001c0003t0026g0001 a0001c0003t0027g0277	10	290	0.0345	-16	c.764 others(35): Show c.764-13459_764-13444delTATATTTATATATATA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49317587	CTCTCTCT others(9): Show CTCTCTCTCTCCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0240 a0001c0001t0011g0240	1	290	0.0035	-16	c.763 others(35): Show c.763+14261_763+14276delAGGGGGGAGAGAGAGA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49393091	GGGAAGGA others(9): Show GGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp2 HG01074.hp1 others(37): Show HG00642.hp2 HG00738.hp2 HG01074.hp1 HG01106.hp2 HG01243.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01496.hp1 HG01516.hp1 HG01884.hp2 HG02015.hp1 HG02257.hp1 HG02572.hp2 HG02622.hp1 HG02683.hp1 HG02683.hp2 HG02970.hp2 HG03139.hp2 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03710.hp2 HG04199.hp2 HG04204.hp1 NA18612.hp1 NA18946.hp1 NA18947.hp2 NA18971.hp1 NA19007.hp2 NA19060.hp1 NA19068.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0035 a0001c0001t0037 a0001c0001t0041	a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0253 others(37): Show a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0253 a0001c0001t0002g0283 a0001c0001t0002g0287 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0084 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0103 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0210 a0001c0001t0003g0227 a0001c0001t0003g0229 a0001c0001t0003g0252 a0001c0001t0003g0271 a0001c0001t0004g0129 a0001c0001t0004g0130 a0001c0001t0004g0131 a0001c0001t0004g0134 a0001c0001t0004g0135 a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0139 a0001c0001t0005g0262 a0001c0001t0005g0265 a0001c0001t0013g0070 a0001c0001t0016g0125 a0001c0001t0017g0282 a0001c0001t0017g0288 a0001c0001t0021g0225 a0001c0001t0021g0234 a0001c0001t0022g0286 a0001c0001t0035g0264 a0001c0001t0037g0112 a0001c0001t0041g0290	40	290	0.1379	-16	c.141 others(33): Show c.141-1462_141-1447delTTCCTTCCTTCCTTCC	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	2/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49426755	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG04199.hp2 HG01516.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0262 a0001c0001t0005g0265 a0001c0001t0005g0262 a0001c0001t0005g0265	2	290	0.0069	-16	c.140 others(33): Show c.140+3484_140+3499delCACACACACACACACA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	2/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49440010	CAATAAAT others(9): Show CAATAAATAAATAAATA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG00642.hp1 others(57): Show HG00544.hp2 HG00597.hp1 HG00642.hp1 HG01071.hp1 HG01106.hp1 HG01109.hp2 HG01256.hp1 HG01358.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01943.hp2 HG01952.hp1 HG01981.hp2 HG02074.hp1 HG02132.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02572.hp2 HG02622.hp1 HG02683.hp1 HG02723.hp1 HG02735.hp1 HG02886.hp1 HG02922.hp2 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03490.hp1 HG03492.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG04199.hp2 NA18946.hp1 NA18947.hp2 NA18955.hp1 NA18961.hp1 NA18971.hp1 NA18992.hp1 NA19003.hp1 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19063.hp1 NA19064.hp2 NA19068.hp2 NA19077.hp2 NA19079.hp2 NA19084.hp2 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0007 a0004c0008 a0001c0001 a0001c0007 a0004c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0035 a0001c0007t0002 a0004c0008t0005	a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0253 others(57): Show a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0253 a0001c0001t0003g0010 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0252 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0271 a0001c0001t0004g0257 a0001c0001t0004g0267 a0001c0001t0005g0121 a0001c0001t0005g0250 a0001c0001t0005g0251 a0001c0001t0005g0254 a0001c0001t0005g0258 a0001c0001t0005g0259 a0001c0001t0005g0261 a0001c0001t0005g0262 a0001c0001t0005g0265 a0001c0001t0005g0266 a0001c0001t0005g0268 a0001c0001t0005g0269 a0001c0001t0005g0276 a0001c0001t0028g0270 a0001c0001t0029g0260 a0001c0001t0031g0114 a0001c0001t0035g0264 a0001c0007t0002g0098 a0004c0008t0005g0263	60	290	0.2069	-16	c.-53 others(33): Show c.-53-9579_-53-9564delTATTTATTTATTTATT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
DYNAP_chr18_54586245_54604493	54600081	GAGATATA others(9): Show GAGATATATATATATAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00642.hp1 others(21): Show HG00140.hp1 HG00140.hp2 HG00642.hp1 HG01243.hp2 HG01891.hp2 HG02080.hp1 HG02486.hp2 HG02970.hp1 HG02970.hp2 HG03471.hp2 NA18522.hp1 NA18944.hp1 NA18945.hp1 NA18966.hp1 NA18974.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19030.hp1 NA19066.hp2 NA19084.hp2 NA19090.hp2 NA20300.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0003c0003t0002	a0001c0001t0001g0001 a0001c0001t0001g0037 a0001c0001t0007g0001 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0037 a0001c0001t0007g0001 a0001c0001t0009g0001 a0003c0003t0002g0003 a0003c0003t0002g0010 a0003c0003t0002g0017 a0003c0003t0002g0027	24	358	0.0670	-16	c.19 others(27): Show c.1937_*1952delAGATATATATATATAT	DYNAP	ENSG00000178690.4	transcript	ENST00000648945.2	protein_coding		589		chr18	TogoVar
DYNC1H1_chr14_101959573_102061443	101984399	ATATGTGT others(9): Show ATATGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0059 a0001c0032t0059	a0001c0032t0059g0155 a0001c0032t0059g0155	1	280	0.0036	-16	c.146 others(33): Show c.1461+792_1461+807delATGTGTGTGTGTGTGT	DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	7/77		INFO_REALIGN_3_PRIME	chr14	TogoVar
DYNC1I1_chr7_95767554_96103424	95772126	CCACACAC others(9): Show CCACACACACACACACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	230	0.0044	-16	c.-65 others(25): Show c.-656_-641delCACACACACACACACA	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding		427		chr7	TogoVar
DYNC1I1_chr7_95767554_96103424	95785775	GTATATAT others(9): Show GTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	230	0.0044	-16	c.-10 others(35): Show c.-10+13030_-10+13045delATATATATATATATAT	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC1I1_chr7_95767554_96103424	95846621	CTCTCTCT others(9): Show CTCTCTCTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp1 HG02630.hp2 others(4): Show HG01884.hp1 HG02145.hp1 HG02630.hp2 HG02895.hp2 HG02897.hp2 HG03225.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0002t0001g0032 others(4): Show a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0002t0001g0032 a0001c0003t0001g0134 a0001c0004t0001g0069 a0001c0004t0001g0101 a0001c0004t0001g0133	7	230	0.0304	-16	c.374 others(35): Show c.374+18507_374+18522delCTCTCTGTGTGTGTGT	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC1I1_chr7_95767554_96103424	95921508	GACAGACT others(9): Show GACAGACTTTTCTGCCT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02630.hp2 HG03139.hp1 others(2): Show HG01884.hp1 HG02630.hp2 HG03139.hp1 HG03453.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0001 a0001c0002t0001 a0002c0005t0001 a0001c0001t0001 a0001c0002t0001 a0002c0005t0001	a0001c0001t0001g0041 a0001c0002t0001g0003 a0001c0002t0001g0032 others(2): Show a0001c0001t0001g0041 a0001c0002t0001g0003 a0001c0002t0001g0032 a0001c0002t0001g0060 a0002c0005t0001g0138	5	230	0.0217	-16	c.490 others(35): Show c.490+51516_490+51531delCTTTTCTGCCTACAGA	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC1I1_chr7_95767554_96103424	96030330	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00438.hp1 others(41): Show HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00639.hp1 HG01070.hp1 HG01074.hp2 HG01106.hp1 HG01123.hp2 HG01192.hp1 HG01358.hp1 HG01433.hp2 HG01943.hp2 HG02056.hp1 HG02071.hp1 HG02132.hp1 HG02738.hp2 HG02809.hp1 HG03017.hp2 HG03209.hp2 HG03834.hp1 HG04184.hp1 NA18747.hp2 NA18943.hp2 NA18952.hp2 NA18955.hp2 NA18966.hp1 NA18968.hp1 NA18971.hp1 NA18986.hp2 NA18990.hp2 NA18993.hp1 NA18994.hp1 NA18998.hp1 NA19004.hp1 NA19011.hp1 NA19030.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19082.hp1 NA19087.hp2 NA19091.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0003t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 others(41): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0064 a0001c0001t0001g0074 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0141 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0198 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0222 a0001c0001t0002g0209 a0001c0001t0004g0191 a0001c0003t0001g0015 a0001c0003t0001g0048 a0001c0003t0001g0203 a0001c0003t0001g0204 a0001c0003t0001g0205	44	230	0.1913	-16	c.111 others(35): Show c.1116+2041_1116+2056delGTGTGTGTGTGTGTGT	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC1I1_chr7_95767554_96103424	96102111	CCATTGAT others(9): Show CCATTGATGGATGAATG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	230	0.0044	-16	c.45 others(27): Show c.4519_*4534delCATTGATGGATGAATG	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding		3688		chr7	TogoVar
DYNC1LI1_chr3_32520974_32575858	32528112	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0225 a0001c0001t0002g0225	1	336	0.0030	-16	c.146 others(33): Show c.1462+318_1462+333delTTTTTTTTTTTTTTTT	DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	12/12			chr3	TogoVar
DYNC1LI1_chr3_32520974_32575858	32561002	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0069 a0001c0001t0005g0069	1	336	0.0030	-16	c.220 others(33): Show c.220+9328_220+9343delTTTTTTTTTTTTTTTT	DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	2/12			chr3	TogoVar
DYNC1LI1_chr3_32520974_32575858	32561018	AAAAAAAA others(9): Show AAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03098.hp2 HG02258.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0188 a0001c0001t0008g0187 a0001c0001t0001g0188 a0001c0001t0008g0187	2	336	0.0060	-16	c.220 others(33): Show c.220+9312_220+9327delGTTTTTTTTTTTTTTT	DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	2/12			chr3	TogoVar
DYNC1LI1_chr3_32520974_32575858	32561022	AAAAAAAA others(9): Show AAAAAAAAAAAACAAAC	A A	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0267 a0001c0001t0016g0267	1	336	0.0030	-16	c.220 others(33): Show c.220+9308_220+9323delGTTTGTTTTTTTTTTT	DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	2/12			chr3	TogoVar
DYNC1LI2_chr16_66715893_66756609	66738884	AACACACA others(9): Show AACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0286	1	340	0.0029	-16	c.530 others(33): Show c.530-2656_530-2641delGTGTGTGTGTGTGTGT	DYNC1LI2	ENSG00000135720.13	transcript	ENST00000258198.7	protein_coding	4/12			chr16	TogoVar
DYNC2H1_chr11_103104426_103484863	103243292	GATAGATA others(9): Show GATAGATAGATAGATAA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG00735.hp2 others(34): Show HG00544.hp1 HG00558.hp2 HG00735.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01109.hp2 HG01167.hp2 HG01192.hp1 HG01361.hp1 HG01433.hp1 HG02109.hp2 HG02257.hp2 HG02572.hp1 HG02615.hp2 HG02630.hp1 HG02735.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03579.hp2 NA18940.hp1 NA18955.hp2 NA18960.hp2 NA18964.hp2 NA18966.hp1 NA18994.hp2 NA18995.hp2 NA19000.hp2 NA19010.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp1 NA20805.hp1	a0001 a0002 a0004 others(9): Show a0001 a0002 a0004 a0005 a0008 a0019 a0021 a0025 a0026 a0027 a0033 a0036	a0001c0010 a0002c0003 a0002c0007 others(14): Show a0001c0010 a0002c0003 a0002c0007 a0002c0022 a0002c0026 a0002c0032 a0002c0046 a0004c0004 a0005c0011 a0008c0020 a0019c0024 a0021c0063 a0025c0043 a0026c0044 a0027c0058 a0033c0049 a0036c0062	a0001c0010t0001 a0002c0003t0001 a0002c0007t0001 others(14): Show a0001c0010t0001 a0002c0003t0001 a0002c0007t0001 a0002c0022t0001 a0002c0026t0001 a0002c0032t0001 a0002c0046t0002 a0004c0004t0001 a0005c0011t0001 a0008c0020t0003 a0019c0024t0001 a0021c0063t0001 a0025c0043t0001 a0026c0044t0001 a0027c0058t0003 a0033c0049t0001 a0036c0062t0001	a0001c0010t0001g0185 a0002c0003t0001g0015 a0002c0003t0001g0036 others(34): Show a0001c0010t0001g0185 a0002c0003t0001g0015 a0002c0003t0001g0036 a0002c0003t0001g0040 a0002c0007t0001g0008 a0002c0007t0001g0009 a0002c0007t0001g0010 a0002c0007t0001g0070 a0002c0022t0001g0043 a0002c0026t0001g0250 a0002c0026t0001g0258 a0002c0032t0001g0031 a0002c0032t0001g0032 a0002c0046t0002g0217 a0004c0004t0001g0069 a0004c0004t0001g0077 a0004c0004t0001g0085 a0004c0004t0001g0087 a0004c0004t0001g0088 a0004c0004t0001g0090 a0004c0004t0001g0092 a0004c0004t0001g0094 a0004c0004t0001g0095 a0004c0004t0001g0096 a0005c0011t0001g0232 a0005c0011t0001g0233 a0005c0011t0001g0234 a0005c0011t0001g0235 a0008c0020t0003g0169 a0019c0024t0001g0218 a0019c0024t0001g0220 a0021c0063t0001g0097 a0025c0043t0001g0068 a0026c0044t0001g0219 a0027c0058t0003g0168 a0033c0049t0001g0241 a0036c0062t0001g0079	37	262	0.1412	-16	c.982 others(33): Show c.9820-395_9820-380delTAGATAGATAAATAGA	DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding	63/88		INFO_REALIGN_3_PRIME	chr11	TogoVar
DYNC2H1_chr11_103104426_103484863	103278522	ATGGAATT others(9): Show ATGGAATTTATATCCAG	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0160 a0003c0002t0001g0160	1	262	0.0038	-16	c.106 others(37): Show c.10696-1824_10696-1809delGGAATTTATATCCAGT	DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding	70/88		INFO_REALIGN_3_PRIME	chr11	TogoVar
DYNLT3_chrX_37833836_37852571	37840779	CACACACA others(9): Show CACACACACACATATAT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0062 a0001c0002t0006g0062	1	324	0.0031	-16	c.275 others(31): Show c.275-144_275-129delATATATGTGTGTGTGT	DYNLT3	ENSG00000165169.11	transcript	ENST00000378578.9	protein_coding	4/4			chrX	TogoVar
DYNLT3_chrX_37833836_37852571	37840781	CACACACA others(9): Show CACACACACATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0055 a0001c0002t0002g0055	1	324	0.0031	-16	c.275 others(31): Show c.275-146_275-131delATATATATGTGTGTGT	DYNLT3	ENSG00000165169.11	transcript	ENST00000378578.9	protein_coding	4/4			chrX	TogoVar
DYRK1A_chr21_37361773_37531358	37457013	TTTACTTA others(9): Show TTTACTTACTTACTTAC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02647.hp2 HG03098.hp1 others(2): Show HG02109.hp1 HG02647.hp2 HG03098.hp1 HG03209.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 others(2): Show a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0087 a0001c0003t0056	a0001c0001t0057g0316 a0001c0001t0058g0315 a0001c0001t0059g0313 others(2): Show a0001c0001t0057g0316 a0001c0001t0058g0315 a0001c0001t0059g0313 a0001c0001t0087g0314 a0001c0003t0056g0317	5	350	0.0143	-16	c.11- others(33): Show c.11-15659_11-15644delCTTACTTACTTACTTA	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37457025	CTTACTTA others(9): Show CTTACTTACTTACTTAT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02258.hp1 HG02486.hp2 others(4): Show HG01192.hp2 HG02258.hp1 HG02486.hp2 HG02738.hp2 HG02922.hp2 HG03486.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0042 a0001c0001t0063 others(2): Show a0001c0001t0016 a0001c0001t0042 a0001c0001t0063 a0001c0001t0150 a0001c0001t0153	a0001c0001t0016g0020 a0001c0001t0016g0025 a0001c0001t0016g0026 others(4): Show a0001c0001t0016g0020 a0001c0001t0016g0025 a0001c0001t0016g0026 a0001c0001t0042g0132 a0001c0001t0063g0345 a0001c0001t0150g0130 a0001c0001t0153g0256	7	350	0.0200	-16	c.11- others(33): Show c.11-15655_11-15640delCTTACTTACTTATTTA	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37457029	CTTACTTA others(9): Show CTTACTTACTTATTTAT	C C	intron_variant intron_variant	MODIFIER	HG01516.hp2 NA20300.hp1 HG01516.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0064 a0001c0001t0001g0049 a0001c0001t0001g0064	2	350	0.0057	-16	c.11- others(33): Show c.11-15651_11-15636delCTTACTTATTTATTTA	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37457033	CTTACTTA others(9): Show CTTACTTATTTATTTAT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01106.hp1 HG01106.hp2 others(22): Show HG00323.hp2 HG01106.hp1 HG01106.hp2 HG02083.hp2 HG02165.hp1 HG02559.hp1 HG02735.hp1 HG02970.hp2 HG03453.hp2 HG03516.hp2 HG03654.hp2 HG03669.hp1 HG04204.hp2 NA18967.hp1 NA18969.hp1 NA18971.hp1 NA18974.hp1 NA19002.hp1 NA19011.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19078.hp2 NA19088.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(14): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0021 a0001c0001t0031 a0001c0001t0068 a0001c0001t0069 a0001c0001t0071 a0001c0001t0072 a0001c0001t0090 a0001c0001t0107 a0001c0001t0108 a0001c0001t0137 a0001c0001t0156 a0001c0001t0162 a0001c0001t0166 a0001c0001t0172	a0001c0001t0001g0045 a0001c0001t0001g0100 a0001c0001t0006g0027 others(22): Show a0001c0001t0001g0045 a0001c0001t0001g0100 a0001c0001t0006g0027 a0001c0001t0006g0035 a0001c0001t0006g0036 a0001c0001t0006g0037 a0001c0001t0006g0039 a0001c0001t0006g0040 a0001c0001t0007g0140 a0001c0001t0021g0243 a0001c0001t0021g0245 a0001c0001t0021g0246 a0001c0001t0031g0041 a0001c0001t0068g0346 a0001c0001t0069g0031 a0001c0001t0071g0030 a0001c0001t0072g0029 a0001c0001t0090g0063 a0001c0001t0107g0038 a0001c0001t0108g0096 a0001c0001t0137g0247 a0001c0001t0156g0010 a0001c0001t0162g0148 a0001c0001t0166g0032 a0001c0001t0172g0244	25	350	0.0714	-16	c.11- others(33): Show c.11-15647_11-15632delCTTATTTATTTATTTA	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37457037	CTTATTTA others(9): Show CTTATTTATTTATTTAT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA19007.hp1 NA19076.hp1 HG03130.hp1 NA19007.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0102 a0001c0001t0161 a0001c0001t0001 a0001c0001t0102 a0001c0001t0161	a0001c0001t0001g0095 a0001c0001t0102g0055 a0001c0001t0161g0107 a0001c0001t0001g0095 a0001c0001t0102g0055 a0001c0001t0161g0107	3	350	0.0086	-16	c.11- others(33): Show c.11-15615_11-15600delTTTATTTATTTATTTA	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37479603	TTTGTTTT others(9): Show TTTGTTTTTGTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0150 a0001c0001t0150	a0001c0001t0150g0130 a0001c0001t0150g0130	1	350	0.0029	-16	c.301 others(33): Show c.301-1032_301-1017delGTTTTTGTTTTTTGTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37495152	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0200 a0001c0001t0003g0200	1	350	0.0029	-16	c.107 others(33): Show c.1072-931_1072-916delTGTGTGTGTGTGTGTG	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37495729	CTGCAGTG others(9): Show CTGCAGTGAGCTCTGAG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01891.hp2 HG02109.hp1 others(15): Show HG00639.hp2 HG01891.hp2 HG02109.hp1 HG02258.hp1 HG02280.hp1 HG02486.hp2 HG02647.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03540.hp1 NA18957.hp1 NA18963.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0026 a0001c0001t0043 others(11): Show a0001c0001t0016 a0001c0001t0026 a0001c0001t0043 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0087 a0001c0001t0088 a0001c0001t0138 a0001c0001t0157 a0001c0001t0158	a0001c0001t0016g0020 a0001c0001t0016g0025 a0001c0001t0016g0026 others(15): Show a0001c0001t0016g0020 a0001c0001t0016g0025 a0001c0001t0016g0026 a0001c0001t0026g0018 a0001c0001t0026g0019 a0001c0001t0043g0295 a0001c0001t0043g0296 a0001c0001t0057g0316 a0001c0001t0058g0315 a0001c0001t0059g0313 a0001c0001t0060g0021 a0001c0001t0061g0022 a0001c0001t0062g0024 a0001c0001t0087g0314 a0001c0001t0088g0023 a0001c0001t0138g0325 a0001c0001t0157g0297 a0001c0001t0158g0298	18	350	0.0514	-16	c.107 others(33): Show c.1072-384_1072-369delGTGAGCTCTGAGTGCA	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1B_chr19_39820350_39839162	39823579	GCACACAC others(9): Show GCACACACACACACACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	372	0.0027	-16	c.21 others(27): Show c.2120_*2135delTGTGTGTGTGTGTGTG	DYRK1B	ENSG00000105204.14	transcript	ENST00000323039.10	protein_coding		1770		chr19	TogoVar
DYRK4_chr12_4557208_4618875	4615377	ACAGGCTG others(9): Show ACAGGCTGAGTGACCTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	414	0.0024	-16	c.16 others(27): Show c.1625_*1640delCAGGCTGAGTGACCTT	DYRK4	ENSG00000010219.14	transcript	ENST00000543431.6	protein_coding		1503		chr12	TogoVar

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