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
DSCAML1_chr11_117422772_117802216	117599136	C C	CAGAAATC others(10): Show CAGAAATCTTTTCTTAGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00438.hp1 others(120): Show HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00558.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01433.hp1 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01993.hp1 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03710.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp2 NA18984.hp1 NA18989.hp1 NA18989.hp2 NA18994.hp2 NA19011.hp1 NA19012.hp2 NA19063.hp2 NA19086.hp1 NA19086.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0005 a0001c0007 a0001c0008 others(46): Show a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0012 a0001c0014 a0001c0015 a0001c0018 a0001c0020 a0001c0022 a0001c0023 a0001c0024 a0001c0025 a0001c0026 a0001c0027 a0001c0028 a0001c0029 a0001c0030 a0001c0035 a0001c0036 a0001c0039 a0001c0042 a0001c0043 a0001c0045 a0001c0050 a0001c0051 a0001c0052 a0001c0053 a0001c0054 a0001c0055 a0002c0001 a0002c0002 a0002c0004 a0002c0006 a0002c0010 a0002c0019 a0002c0032 a0002c0034 a0002c0059 a0002c0060 a0002c0062 a0002c0063 a0002c0066 a0003c0041 a0003c0044 a0004c0068 a0005c0031 a0006c0065	a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 others(77): Show a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0005t0004 a0001c0007t0001 a0001c0007t0002 a0001c0008t0001 a0001c0008t0004 a0001c0009t0002 a0001c0011t0002 a0001c0011t0003 a0001c0011t0004 a0001c0012t0001 a0001c0012t0002 a0001c0012t0003 a0001c0014t0001 a0001c0014t0003 a0001c0014t0004 a0001c0015t0001 a0001c0015t0005 a0001c0018t0001 a0001c0018t0002 a0001c0020t0001 a0001c0020t0003 a0001c0022t0001 a0001c0022t0002 a0001c0023t0001 a0001c0024t0003 a0001c0025t0003 a0001c0026t0001 a0001c0026t0004 a0001c0027t0001 a0001c0028t0001 a0001c0028t0004 a0001c0029t0002 a0001c0030t0003 a0001c0030t0004 a0001c0035t0003 a0001c0036t0003 a0001c0039t0001 a0001c0042t0003 a0001c0043t0003 a0001c0045t0006 a0001c0050t0001 a0001c0051t0002 a0001c0052t0001 a0001c0053t0001 a0001c0054t0002 a0001c0055t0001 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0004t0004 a0002c0006t0001 a0002c0006t0002 a0002c0006t0003 a0002c0006t0004 a0002c0010t0002 a0002c0010t0004 a0002c0019t0001 a0002c0032t0003 a0002c0034t0002 a0002c0059t0002 a0002c0060t0002 a0002c0062t0002 a0002c0063t0003 a0002c0066t0002 a0003c0041t0001 a0003c0044t0002 a0004c0068t0001 a0005c0031t0002 a0006c0065t0001	a0001c0005t0001g0096 a0001c0005t0001g0099 a0001c0005t0001g0190 others(120): Show a0001c0005t0001g0096 a0001c0005t0001g0099 a0001c0005t0001g0190 a0001c0005t0002g0144 a0001c0005t0003g0046 a0001c0005t0003g0080 a0001c0005t0004g0023 a0001c0005t0004g0085 a0001c0007t0001g0092 a0001c0007t0001g0111 a0001c0007t0001g0112 a0001c0007t0001g0136 a0001c0007t0001g0138 a0001c0007t0001g0158 a0001c0007t0002g0140 a0001c0008t0001g0102 a0001c0008t0001g0118 a0001c0008t0001g0137 a0001c0008t0001g0167 a0001c0008t0004g0100 a0001c0009t0002g0019 a0001c0009t0002g0180 a0001c0011t0002g0007 a0001c0011t0002g0026 a0001c0011t0002g0174 a0001c0011t0003g0050 a0001c0011t0004g0064 a0001c0012t0001g0043 a0001c0012t0002g0060 a0001c0012t0002g0061 a0001c0012t0003g0094 a0001c0012t0003g0095 a0001c0014t0001g0071 a0001c0014t0001g0132 a0001c0014t0003g0178 a0001c0014t0004g0090 a0001c0014t0004g0143 a0001c0015t0001g0031 a0001c0015t0005g0008 a0001c0018t0001g0098 a0001c0018t0002g0087 a0001c0018t0002g0134 a0001c0020t0001g0027 a0001c0020t0003g0021 a0001c0022t0001g0135 a0001c0022t0002g0176 a0001c0023t0001g0062 a0001c0024t0003g0073 a0001c0025t0003g0192 a0001c0026t0001g0003 a0001c0026t0004g0051 a0001c0027t0001g0012 a0001c0027t0001g0122 a0001c0028t0001g0067 a0001c0028t0004g0006 a0001c0029t0002g0029 a0001c0029t0002g0103 a0001c0030t0003g0183 a0001c0030t0004g0133 a0001c0035t0003g0170 a0001c0036t0003g0063 a0001c0039t0001g0155 a0001c0042t0003g0127 a0001c0043t0003g0184 a0001c0045t0006g0152 a0001c0050t0001g0022 a0001c0051t0002g0010 a0001c0052t0001g0123 a0001c0053t0001g0024 a0001c0054t0002g0173 a0001c0055t0001g0105 a0002c0001t0001g0042 a0002c0001t0001g0072 a0002c0001t0001g0076 a0002c0001t0001g0126 a0002c0001t0002g0083 a0002c0001t0002g0175 a0002c0001t0003g0119 a0002c0001t0003g0172 a0002c0001t0004g0082 a0002c0001t0004g0139 a0002c0002t0001g0047 a0002c0002t0001g0056 a0002c0002t0001g0162 a0002c0002t0002g0011 a0002c0002t0002g0028 a0002c0002t0003g0013 a0002c0002t0003g0159 a0002c0002t0003g0194 a0002c0002t0004g0004 a0002c0002t0004g0020 a0002c0002t0004g0086 a0002c0004t0001g0037 a0002c0004t0001g0113 a0002c0004t0002g0005 a0002c0004t0002g0081 a0002c0004t0003g0002 a0002c0004t0004g0066 a0002c0004t0004g0151 a0002c0006t0001g0156 a0002c0006t0001g0187 a0002c0006t0002g0093 a0002c0006t0003g0052 a0002c0006t0004g0041 a0002c0006t0004g0149 a0002c0006t0004g0150 a0002c0010t0002g0018 a0002c0010t0002g0048 a0002c0010t0004g0058 a0002c0010t0004g0116 a0002c0019t0001g0121 a0002c0032t0003g0001 a0002c0034t0002g0171 a0002c0059t0002g0040 a0002c0060t0002g0193 a0002c0062t0002g0117 a0002c0063t0003g0153 a0002c0066t0002g0070 a0003c0041t0001g0097 a0003c0044t0002g0030 a0004c0068t0001g0146 a0005c0031t0002g0045 a0006c0065t0001g0109	123	194	0.6340	17	c.512 others(36): Show c.512-66615_512-66614insACTAAGAAAAGATTTCT	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117672102	G G	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01891.hp2 HG02630.hp1 others(2): Show HG01123.hp2 HG01891.hp2 HG02630.hp1 HG02965.hp2 HG02970.hp1	a0001 a0002 a0001 a0002	a0001c0013 a0001c0045 a0001c0054 others(1): Show a0001c0013 a0001c0045 a0001c0054 a0002c0004	a0001c0013t0004 a0001c0045t0006 a0001c0054t0002 others(2): Show a0001c0013t0004 a0001c0045t0006 a0001c0054t0002 a0002c0004t0003 a0002c0004t0004	a0001c0013t0004g0177 a0001c0045t0006g0152 a0001c0054t0002g0173 others(2): Show a0001c0013t0004g0177 a0001c0045t0006g0152 a0001c0054t0002g0173 a0002c0004t0003g0002 a0002c0004t0004g0151	5	194	0.0258	17	c.511 others(38): Show c.511+104672_511+104688dupTTTTTTTTTTTTTTTTT	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117672102	G G	GGAAAAAA others(10): Show GGAAAAAAAAAGAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0161 a0002c0003t0004g0161	1	194	0.0052	17	c.511 others(38): Show c.511+104688_511+104689insTTTTTTCTTTTTTTTTC	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117687426	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA18953.hp2 NA19240.hp1 HG03225.hp2 NA18953.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0028 a0002c0004 a0002c0019 a0001c0028 a0002c0004 a0002c0019	a0001c0028t0001 a0002c0004t0002 a0002c0019t0002 a0001c0028t0001 a0002c0004t0002 a0002c0019t0002	a0001c0028t0001g0067 a0002c0004t0002g0005 a0002c0019t0002g0148 a0001c0028t0001g0067 a0002c0004t0002g0005 a0002c0019t0002g0148	3	194	0.0155	17	c.511 others(36): Show c.511+89348_511+89364dupAAAAAAAAAAAAAAAAA	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DSE_chr6_116365947_116449861	116421463	A A	ATATATAT others(10): Show ATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02809.hp1 HG03098.hp2 others(1): Show HG02109.hp2 HG02809.hp1 HG03098.hp2 HG03130.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0056 a0005c0006t0015 a0001c0001t0056 a0005c0006t0015	a0001c0001t0056g0297 a0005c0006t0015g0069 a0005c0006t0015g0247 others(1): Show a0001c0001t0056g0297 a0005c0006t0015g0069 a0005c0006t0015g0247 a0005c0006t0015g0326	4	366	0.0109	17	c.417 others(34): Show c.417-5110_417-5109insATATATATATATTTTTT	DSE	ENSG00000111817.19	transcript	ENST00000644252.3	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
DSE_chr6_116365947_116449861	116421464	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG03516.hp2 HG02895.hp2 HG02897.hp2 HG03516.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0012 a0004c0005t0012	a0004c0005t0012g0023 a0004c0005t0012g0325 a0004c0005t0012g0023 a0004c0005t0012g0325	3	366	0.0082	17	c.417 others(34): Show c.417-5110_417-5109insATATATATATATATATA	DSE	ENSG00000111817.19	transcript	ENST00000644252.3	protein_coding	2/5			chr6	TogoVar
DSE_chr6_116365947_116449861	116446393	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG03654.hp1 NA18939.hp2 others(9): Show HG02572.hp2 HG03654.hp1 NA18939.hp2 NA18952.hp2 NA18954.hp1 NA18959.hp2 NA18973.hp1 NA18974.hp1 NA19057.hp2 NA19064.hp2 NA19075.hp2 NA19083.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0043 a0002c0002t0005 a0001c0001t0043 a0002c0002t0005	a0001c0001t0043g0250 a0002c0002t0005g0006 a0002c0002t0005g0024 others(9): Show a0001c0001t0043g0250 a0002c0002t0005g0006 a0002c0002t0005g0024 a0002c0002t0005g0055 a0002c0002t0005g0056 a0002c0002t0005g0058 a0002c0002t0005g0059 a0002c0002t0005g0070 a0002c0002t0005g0143 a0002c0002t0005g0320 a0002c0002t0005g0331 a0002c0002t0005g0333	12	366	0.0328	17	c.90 others(28): Show c.9048_*9049insAAAAAAAAAAAAAAAAA	DSE	ENSG00000111817.19	transcript	ENST00000644252.3	protein_coding		1533		chr6	TogoVar
DSP_chr6_7536671_7591714	7554082	A A	ACACACAC others(10): Show ACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18954.hp1 HG02135.hp1 NA18954.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0003c0005 a0002c0003 a0003c0005	a0002c0003t0001 a0003c0005t0002 a0002c0003t0001 a0003c0005t0002	a0002c0003t0001g0292 a0003c0005t0002g0067 a0002c0003t0001g0292 a0003c0005t0002g0067	2	396	0.0051	17	c.171 others(34): Show c.171-1636_171-1635insCACACACACACACACAC	DSP	ENSG00000096696.16	transcript	ENST00000379802.8	protein_coding	1/23			chr6	TogoVar
DSP_chr6_7536671_7591714	7554126	C C	CACACACA others(10): Show CACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02615.hp2 HG03491.hp1 others(4): Show HG02004.hp1 HG02615.hp2 HG03491.hp1 HG03710.hp2 NA18983.hp1 NA19056.hp2 NA19060.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0015	a0001c0001 a0001c0004 a0001c0007 others(4): Show a0001c0001 a0001c0004 a0001c0007 a0001c0059 a0002c0003 a0005c0008 a0015c0031	a0001c0001t0001 a0001c0004t0001 a0001c0007t0001 others(4): Show a0001c0001t0001 a0001c0004t0001 a0001c0007t0001 a0001c0059t0001 a0002c0003t0001 a0005c0008t0001 a0015c0031t0002	a0001c0001t0001g0172 a0001c0004t0001g0285 a0001c0007t0001g0263 others(4): Show a0001c0001t0001g0172 a0001c0004t0001g0285 a0001c0007t0001g0263 a0001c0059t0001g0116 a0002c0003t0001g0284 a0005c0008t0001g0305 a0015c0031t0002g0280	7	396	0.0177	17	c.171 others(34): Show c.171-1592_171-1591insACACACACACACACACA	DSP	ENSG00000096696.16	transcript	ENST00000379802.8	protein_coding	1/23			chr6	TogoVar
DSTN_chr20_17565075_17614919	17583735	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01167.hp1 HG01169.hp1 others(1): Show HG01106.hp2 HG01167.hp1 HG01169.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0011 a0001c0001t0015 others(1): Show a0001c0001t0004 a0001c0001t0011 a0001c0001t0015 a0001c0001t0026	a0001c0001t0004g0286 a0001c0001t0011g0200 a0001c0001t0015g0084 others(1): Show a0001c0001t0004g0286 a0001c0001t0011g0200 a0001c0001t0015g0084 a0001c0001t0026g0287	4	348	0.0115	17	c.3+1 others(32): Show c.3+13531_3+13547dupTTTTTTTTTTTTTTTTT	DSTN	ENSG00000125868.16	transcript	ENST00000246069.12	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
DST_chr6_56452996_56959830	56695126	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA19043.hp1 HG03486.hp2 NA19043.hp1	a0002 a0013 a0002 a0013	a0002c0002 a0013c0013 a0002c0002 a0013c0013	a0002c0002t0001 a0013c0013t0001 a0002c0002t0001 a0013c0013t0001	a0002c0002t0001g0069 a0013c0013t0001g0076 a0002c0002t0001g0069 a0013c0013t0001g0076	2	84	0.0238	17	c.104 others(36): Show c.1047+4510_1047+4526dupTTTTTTTTTTTTTTTTT	DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	9/103			chr6	TogoVar
DTD1_chr20_18583054_18771644	18649326	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0118 a0001c0001t0002g0118	1	398	0.0025	17	c.477 others(36): Show c.477+21107_477+21123dupTTTTTTTTTTTTTTTTT	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
DTD1_chr20_18583054_18771644	18753607	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02896.hp2 HG02897.hp1 others(4): Show HG02572.hp1 HG02896.hp2 HG02897.hp1 HG03098.hp1 HG03225.hp2 HG03688.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0029 a0001c0001t0001 a0001c0001t0004 a0001c0001t0029	a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0135 others(4): Show a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0004g0241 a0001c0001t0029g0140	7	398	0.0176	17	c.19 others(34): Show c.19+9351_*19+9352insAAAAAAAAAAAAAAAAA	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
DTL_chr1_212030748_212110013	212051442	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01074.hp1 NA19085.hp1 HG00733.hp2 HG01074.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0116 a0001c0001t0001g0011 a0001c0001t0001g0116	3	364	0.0082	17	c.460 others(34): Show c.460+4053_460+4069dupTTTTTTTTTTTTTTTTT	DTL	ENSG00000143476.18	transcript	ENST00000366991.5	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
DTNBP1_chr6_15517807_15668028	15553594	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01891.hp1 HG02300.hp1 others(5): Show HG01192.hp2 HG01891.hp1 HG02300.hp1 HG02486.hp2 NA18942.hp1 NA18986.hp2 NA19007.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0036 a0001c0001t0001g0105 a0001c0001t0001g0110 others(5): Show a0001c0001t0001g0036 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0213 a0001c0001t0002g0198 a0001c0001t0002g0204 a0001c0001t0002g0214	8	314	0.0255	17	c.512 others(36): Show c.512-20200_512-20199insAAAAAAAAAAAAAAAAA	DTNBP1	ENSG00000047579.20	transcript	ENST00000344537.10	protein_coding	7/9			chr6	TogoVar
DTNB_chr2_25372243_25678577	25526395	A A	ATATATAT others(10): Show ATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	168	0.0060	17	c.100 others(36): Show c.1001+5077_1001+5078insAAAAATATATATATATA	DTNB	ENSG00000138101.20	transcript	ENST00000406818.8	protein_coding	9/20			chr2	TogoVar
DTNB_chr2_25372243_25678577	25526395	A A	ATATATAT others(10): Show ATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02647.hp2 HG02523.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0137 a0001c0001t0001g0020 a0001c0001t0001g0137	2	168	0.0119	17	c.100 others(36): Show c.1001+5077_1001+5078insAAAAAAATATATATATA	DTNB	ENSG00000138101.20	transcript	ENST00000406818.8	protein_coding	9/20			chr2	TogoVar
DTX2_chr7_76456709_76510991	76460518	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0193 a0002c0002t0001g0193	1	280	0.0036	17	c.-15 others(28): Show c.-1573_-1572insTTTTTTTTTTTTTTTTT	DTX2	ENSG00000091073.20	transcript	ENST00000430490.7	protein_coding		1190		chr7	TogoVar
DTX4_chr11_59167132_59213588	59167585	T T	TATTGTAT others(10): Show TATTGTATACAAAATGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	390	0.0026	17	c.-50 others(28): Show c.-5011_-5010insATTGTATACAAAATGTA	DTX4	ENSG00000110042.8	transcript	ENST00000227451.4	protein_coding		4546		chr11	TogoVar
DTX4_chr11_59167132_59213588	59174501	G G	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0059 a0001c0001t0012g0059	1	390	0.0026	17	c.211 others(34): Show c.211+1707_211+1708insAAAAAAAAAAAAAAAAA	DTX4	ENSG00000110042.8	transcript	ENST00000227451.4	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
DUS1L_chr17_82052506_82070804	82070263	C C	CTTTCTTT others(10): Show CTTTCTTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG01515.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	2	424	0.0047	17	c.-46 others(28): Show c.-4662_-4661insAGAAAGAAAGAAAGAAA	DUS1L	ENSG00000169718.18	transcript	ENST00000306796.10	protein_coding		4460		chr17	TogoVar
DUSP11_chr2_73757213_73785103	73783643	G G	GCGCCTGT others(10): Show GCGCCTGTAGTCCCAGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01243.hp1 HG01975.hp2 others(2): Show HG01167.hp1 HG01243.hp1 HG01975.hp2 HG02451.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0111 others(2): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114	5	386	0.0130	17	c.-36 others(28): Show c.-3670_-3669insAGCTGGGACTACAGGCG	DUSP11	ENSG00000144048.11	transcript	ENST00000272444.8	protein_coding		3541		chr2	TogoVar
DUSP14_chr17_37484891_37518498	37485510	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0015 a0001c0004t0015	a0001c0004t0015g0073 a0001c0004t0015g0073	1	421	0.0024	17	c.-46 others(28): Show c.-4629_-4628insTTTTTTTTTTTTTTTTT	DUSP14	ENSG00000276023.5	transcript	ENST00000617516.5	protein_coding		4380		chr17	TogoVar
DUSP14_chr17_37484891_37518498	37498314	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	421	0.0024	17	c.-18 others(36): Show c.-181+8370_-181+8386dupTTTTTTTTTTTTTTTTT	DUSP14	ENSG00000276023.5	transcript	ENST00000617516.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr17	TogoVar
DUSP14_chr17_37484891_37518498	37511585	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0279 a0001c0001t0010g0279	1	421	0.0024	17	c.-92 others(32): Show c.-92-594_-92-578dupTTTTTTTTTTTTTTTTT	DUSP14	ENSG00000276023.5	transcript	ENST00000617516.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr17	TogoVar
DUSP14_chr17_37484891_37518498	37511937	A A	AGTTTTTT others(10): Show AGTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00544.hp2 others(16): Show HG00099.hp2 HG00438.hp1 HG00544.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01074.hp2 HG01167.hp1 HG01169.hp1 HG01358.hp1 HG01928.hp1 HG01943.hp2 HG02004.hp1 HG02273.hp1 HG02886.hp2 HG03486.hp1 HG04228.hp1 NA18944.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0013 a0001c0001t0002 a0001c0001t0007 a0001c0001t0013	a0001c0001t0002g0011 a0001c0001t0002g0021 a0001c0001t0002g0080 others(15): Show a0001c0001t0002g0011 a0001c0001t0002g0021 a0001c0001t0002g0080 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0133 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0158 a0001c0001t0002g0170 a0001c0001t0002g0184 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0209 a0001c0001t0002g0299 a0001c0001t0007g0044 a0001c0001t0013g0011	19	421	0.0451	17	c.-92 others(32): Show c.-92-244_-92-243insGTTTTTTTTTTTTTTTT	DUSP14	ENSG00000276023.5	transcript	ENST00000617516.5	protein_coding	2/2			chr17	TogoVar
DUSP7_chr3_52043919_52061571	52046238	G G	GAAAGCTG others(10): Show GAAAGCTGGCTCCCATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	384	0.0026	17	c.45 others(28): Show c.4576_*4577insATATGGGAGCCAGCTTT	DUSP7	ENSG00000164086.10	transcript	ENST00000495880.2	protein_coding		2680		chr3	TogoVar
DUXA_chr19_57149021_57172485	57161324	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00733.hp1 HG01071.hp2 others(25): Show HG00621.hp2 HG00733.hp1 HG01071.hp2 HG01074.hp2 HG01928.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp1 HG02273.hp2 HG02572.hp1 HG02602.hp2 HG02698.hp1 HG02723.hp2 HG02818.hp1 HG02895.hp2 HG02922.hp1 HG03579.hp1 HG03831.hp2 HG03834.hp1 HG04204.hp2 HG06807.hp2 NA18943.hp2 NA18974.hp1 NA19065.hp2 NA19077.hp1 NA19088.hp1 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0025 others(22): Show a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0084 a0001c0001t0001g0116 a0001c0001t0001g0122 a0001c0001t0001g0155 a0001c0001t0001g0202 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0234 a0001c0001t0001g0245 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0261 a0001c0001t0001g0287 a0001c0001t0001g0319 a0001c0001t0001g0395 a0001c0001t0002g0047 a0001c0001t0002g0248 a0001c0001t0002g0259	28	446	0.0628	17	c.26- others(30): Show c.26-544_26-528dupTTTTTTTTTTTTTTTTT	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding	1/5			chr19	TogoVar
DUXA_chr19_57149021_57172485	57165322	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	446	0.0022	17	c.25+ others(32): Show c.25+2096_25+2097insATATATATATATATATA	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding	1/5			chr19	TogoVar
DUXA_chr19_57149021_57172485	57165324	A A	AAATATAT others(10): Show AAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	446	0.0022	17	c.25+ others(32): Show c.25+2094_25+2095insATATATATATATATATT	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding	1/5			chr19	TogoVar
DUXA_chr19_57149021_57172485	57165324	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02165.hp2 HG03453.hp2 HG00099.hp2 HG02165.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0002g0203 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0002g0203	3	446	0.0067	17	c.25+ others(32): Show c.25+2094_25+2095insATATATATATATATATA	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding	1/5			chr19	TogoVar
DUXA_chr19_57149021_57172485	57172071	G G	GGGGGCGC others(10): Show GGGGGCGCGCGAGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp2 HG02129.hp1 HG02155.hp1 others(7): Show HG02004.hp2 HG02129.hp1 HG02155.hp1 HG03041.hp2 HG03579.hp1 HG06807.hp2 NA18951.hp1 NA18982.hp1 NA18990.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0023 a0001c0001t0001g0122 a0001c0001t0001g0239 others(7): Show a0001c0001t0001g0023 a0001c0001t0001g0122 a0001c0001t0001g0239 a0001c0001t0001g0261 a0001c0001t0001g0270 a0001c0001t0001g0303 a0001c0001t0001g0318 a0001c0001t0001g0355 a0001c0001t0002g0146 a0001c0001t0002g0293	10	446	0.0224	17	c.-46 others(28): Show c.-4629_-4628insGCCCCCTCGCGCGCCCC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4587		chr19	TogoVar
DUXA_chr19_57149021_57172485	57172071	G G	GGGGGCGT others(10): Show GGGGGCGTGCGAGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0361 a0001c0001t0002g0361	1	446	0.0022	17	c.-46 others(28): Show c.-4629_-4628insGCCCCCTCGCACGCCCC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4587		chr19	TogoVar
DUXA_chr19_57149021_57172485	57172095	C C	CGCGAGGG others(10): Show CGCGAGGGGGCGGGGCGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00438.hp2 others(25): Show HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00639.hp2 HG00673.hp2 HG01928.hp2 HG02040.hp1 HG02071.hp1 HG02132.hp1 HG03834.hp2 HG04115.hp2 NA18951.hp2 NA18960.hp2 NA18964.hp2 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18973.hp1 NA18973.hp2 NA18985.hp2 NA19004.hp1 NA19004.hp2 NA19012.hp1 NA19012.hp2 NA19063.hp2 NA19065.hp1 NA19085.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0020 others(25): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0144 a0001c0001t0001g0152 a0001c0001t0001g0158 a0001c0001t0001g0165 a0001c0001t0001g0172 a0001c0001t0001g0212 a0001c0001t0001g0226 a0001c0001t0001g0282 a0001c0001t0001g0330 a0001c0001t0001g0350 a0001c0001t0002g0008 a0001c0001t0002g0012 a0001c0001t0002g0027 a0001c0001t0002g0159 a0001c0001t0002g0169 a0001c0001t0002g0182 a0001c0001t0002g0206 a0001c0001t0002g0230 a0001c0001t0002g0305 a0001c0001t0002g0336 a0001c0001t0002g0339 a0001c0001t0002g0343 a0001c0001t0005g0183	28	446	0.0628	17	c.-46 others(28): Show c.-4653_-4652insACGCCCCGCCCCCTCGC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4611		chr19	TogoVar
DUXA_chr19_57149021_57172485	57172112	C C	CGCGAGGG others(10): Show CGCGAGGGGGCGGGGCGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00609.hp2 HG01106.hp1 others(5): Show HG00597.hp2 HG00609.hp2 HG01106.hp1 HG01981.hp1 NA18959.hp2 NA18967.hp2 NA19077.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0148 a0001c0001t0001g0163 a0001c0001t0001g0213 others(5): Show a0001c0001t0001g0148 a0001c0001t0001g0163 a0001c0001t0001g0213 a0001c0001t0001g0235 a0001c0001t0001g0253 a0001c0001t0002g0187 a0001c0001t0002g0312 a0001c0001t0002g0328	8	446	0.0179	17	c.-46 others(28): Show c.-4670_-4669insACGCCCCGCCCCCTCGC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4628		chr19	TogoVar
DUXA_chr19_57149021_57172485	57172129	C C	CGCGAGGG others(10): Show CGCGAGGGGGCGGGGCGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp1 NA19089.hp1 NA19000.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0150 a0001c0001t0001g0121 a0001c0001t0001g0150	2	446	0.0045	17	c.-46 others(28): Show c.-4687_-4686insACGCCCCGCCCCCTCGC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4645		chr19	TogoVar
DUXA_chr19_57149021_57172485	57172140	G G	GGGGCGCG others(10): Show GGGGCGCGCGAGGGGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0315 a0001c0001t0001g0315	1	446	0.0022	17	c.-46 others(28): Show c.-4698_-4697insGCGCCCCTCGCGCGCCC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4656		chr19	TogoVar
DVL2_chr17_7220342_7239517	7233087	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0059 a0001c0002t0001g0059	1	406	0.0025	17	c.194 others(32): Show c.194+965_194+981dupTTTTTTTTTTTTTTTTT	DVL2	ENSG00000004975.12	transcript	ENST00000005340.10	protein_coding	1/14			chr17	TogoVar
DYDC1_chr10_80331105_80361755	80346444	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp2 HG02572.hp1 others(4): Show HG01243.hp2 HG01884.hp2 HG02572.hp1 HG02976.hp2 HG03130.hp1 HG03195.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0110 a0001c0001t0001g0192 others(1): Show a0001c0001t0001g0013 a0001c0001t0001g0110 a0001c0001t0001g0192 a0001c0001t0001g0193	7	366	0.0191	17	c.250 others(34): Show c.250-4100_250-4084dupAAAAAAAAAAAAAAAAA	DYDC1	ENSG00000170788.14	transcript	ENST00000372202.6	protein_coding	3/6			chr10	TogoVar
DYM_chr18_49031387_49465645	49080150	C C	CGGGGGGG others(10): Show CGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02300.hp1 NA18951.hp1 others(2): Show HG01074.hp2 HG02300.hp1 NA18951.hp1 NA18964.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0034 a0001c0001t0002g0163 a0001c0001t0002g0168 others(2): Show a0001c0001t0002g0034 a0001c0001t0002g0163 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0012g0160	5	290	0.0172	17	c.202 others(38): Show c.2025+17251_2025+17252insCCCCCCCCCCCCCCCCC	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	17/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49112113	G G	GCCTCCTC others(10): Show GCCTCCTCTCCGCACCCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp2 others(149): Show HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00621.hp2 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02280.hp2 HG02300.hp1 HG02523.hp1 HG02683.hp2 HG02717.hp1 HG02735.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03710.hp2 HG03942.hp2 HG04204.hp1 NA18612.hp1 NA18612.hp2 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp2 NA18961.hp1 NA18964.hp1 NA18964.hp2 NA18971.hp1 NA18975.hp1 NA18979.hp2 NA18989.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp2 NA18995.hp2 NA19003.hp1 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19084.hp2 NA19090.hp1 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0007 a0005c0006 a0001c0001 a0001c0007 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0030 a0001c0001t0033 a0001c0001t0041 a0001c0007t0002 a0005c0006t0006	a0001c0001t0001g0187 a0001c0001t0001g0219 a0001c0001t0001g0220 others(149): Show a0001c0001t0001g0187 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0249 a0001c0001t0002g0056 a0001c0001t0002g0113 a0001c0001t0002g0142 a0001c0001t0002g0159 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0186 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0221 a0001c0001t0002g0232 a0001c0001t0002g0235 a0001c0001t0002g0248 a0001c0001t0002g0279 a0001c0001t0002g0281 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0287 a0001c0001t0003g0010 a0001c0001t0003g0053 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 a0001c0001t0003g0115 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0210 a0001c0001t0003g0214 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0231 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0118 a0001c0001t0004g0119 a0001c0001t0004g0122 a0001c0001t0004g0123 a0001c0001t0004g0124 a0001c0001t0004g0126 a0001c0001t0004g0128 a0001c0001t0004g0129 a0001c0001t0004g0130 a0001c0001t0004g0131 a0001c0001t0004g0132 a0001c0001t0004g0134 a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0139 a0001c0001t0004g0141 a0001c0001t0004g0152 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0257 a0001c0001t0004g0289 a0001c0001t0005g0156 a0001c0001t0006g0158 a0001c0001t0006g0178 a0001c0001t0006g0180 a0001c0001t0006g0183 a0001c0001t0006g0184 a0001c0001t0006g0208 a0001c0001t0012g0160 a0001c0001t0012g0161 a0001c0001t0012g0211 a0001c0001t0013g0070 a0001c0001t0013g0086 a0001c0001t0013g0087 a0001c0001t0016g0125 a0001c0001t0016g0140 a0001c0001t0017g0282 a0001c0001t0017g0288 a0001c0001t0019g0169 a0001c0001t0019g0196 a0001c0001t0021g0225 a0001c0001t0021g0234 a0001c0001t0022g0182 a0001c0001t0022g0286 a0001c0001t0030g0127 a0001c0001t0033g0280 a0001c0001t0041g0290 a0001c0007t0002g0098 a0005c0006t0006g0157	152	290	0.5241	17	c.191 others(36): Show c.1911+6614_1911+6630dupGGGGTGCGGAGAGGAGG	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	16/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49206003	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTGT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0212 a0001c0001t0002g0212	1	290	0.0035	17	c.162 others(36): Show c.1625+3547_1625+3548insACAAAAAAAAAAAAAAA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	14/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49252216	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA19079.hp1 HG02572.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0019 a0001c0001t0011 a0001c0001t0019	a0001c0001t0011g0244 a0001c0001t0019g0196 a0001c0001t0011g0244 a0001c0001t0019g0196	2	290	0.0069	17	c.146 others(36): Show c.1460+4777_1460+4793dupTTTTTTTTTTTTTTTTT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	13/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49313462	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0179 a0001c0001t0002g0179	1	290	0.0035	17	c.763 others(36): Show c.763+18385_763+18401dupTTTTTTTTTTTTTTTTT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49317646	C C	CTCCTCTC others(10): Show CTCCTCTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0027 a0001c0003t0027	a0001c0003t0027g0277 a0001c0003t0027g0277	1	290	0.0035	17	c.763 others(36): Show c.763+14217_763+14218insAGGAAGGAAGGAGAGGA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49440824	A A	AATATATG others(10): Show AATATATGACTATATATT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0258 a0001c0001t0005g0258	1	290	0.0035	17	c.-53 others(36): Show c.-53-10378_-53-10377insAATATATAGTCATATAT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49440967	T T	TTTATATA others(10): Show TTTATATATTATATATAA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0087 a0001c0001t0013g0087	1	290	0.0035	17	c.-53 others(36): Show c.-53-10521_-53-10520insTTATATATAATATATAA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
DYNC1I1_chr7_95767554_96103424	95936990	A A	ACACACAC others(10): Show ACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03927.hp2 HG00639.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0221 a0001c0001t0001g0083 a0001c0001t0001g0221	2	230	0.0087	17	c.491 others(36): Show c.491-40522_491-40521insCACACACACACACACAC	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	6/16			chr7	TogoVar
DYNC1I1_chr7_95767554_96103424	96100650	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0213 a0001c0003t0001g0213	1	230	0.0044	17	c.30 others(28): Show c.3057_*3058insGTGTGTGTGTGTGTGTG	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding		2227		chr7	TogoVar
DYNC1LI1_chr3_32520974_32575858	32532480	A A	ATGTGTAT others(10): Show ATGTGTATATATATATAT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0073 a0001c0001t0005g0073	1	336	0.0030	17	c.108 others(34): Show c.1080+505_1080+506insATATATATATATACACA	DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	8/12			chr3	TogoVar

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