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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
CDK2AP1_chr12_123255976_123276856	123274784	AAAGAAAA others(2): Show AAAGAAAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 NA18948.hp2 NA18960.hp1 HG03239.hp1 NA18948.hp2 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0126 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0126	3	328	0.0092	-9	c.-31 others(20): Show c.-3175_-3167delCTTTTTCTT	CDK2AP1	ENSG00000111328.7	transcript	ENST00000261692.7	protein_coding		2929		chr12	TogoVar
CDK2AP1_chr12_123255976_123276856	123274879	AGAAAGAA others(2): Show AGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG01175.hp2 HG01943.hp1 others(8): Show HG00280.hp1 HG01175.hp2 HG01943.hp1 HG02132.hp1 HG02148.hp1 HG02683.hp1 HG02970.hp2 HG02976.hp2 HG03239.hp1 NA19056.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0004t0001	a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 others(8): Show a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0005g0042 a0001c0001t0005g0043 a0001c0001t0005g0044 a0001c0001t0007g0131 a0001c0004t0001g0130	11	328	0.0335	-9	c.-32 others(20): Show c.-3270_-3262delCTTTCTTTC	CDK2AP1	ENSG00000111328.7	transcript	ENST00000261692.7	protein_coding		3024		chr12	TogoVar
CDK2_chr12_55961830_55977789	55970288	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02818.hp2 HG03130.hp2 others(8): Show HG02559.hp1 HG02818.hp2 HG03130.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03579.hp2 NA18522.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0004 a0001c0003t0009 others(1): Show a0001c0003t0001 a0001c0003t0004 a0001c0003t0009 a0001c0003t0025	a0001c0003t0001g0009 a0001c0003t0004g0009 a0001c0003t0004g0011 others(2): Show a0001c0003t0001g0009 a0001c0003t0004g0009 a0001c0003t0004g0011 a0001c0003t0009g0011 a0001c0003t0025g0009	11	410	0.0268	-9	c.588 others(24): Show c.588+733_589-727delAAAAAAAAA	CDK2	ENSG00000123374.11	transcript	ENST00000266970.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
CDK3_chr17_75995855_76010998	76006316	ATTTTTTT others(2): Show ATTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00639.hp2 HG00738.hp1 others(60): Show HG00280.hp2 HG00639.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01261.hp2 HG01891.hp1 HG02055.hp1 HG02109.hp2 HG02145.hp2 HG02258.hp1 HG02280.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18985.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0001 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0034 others(11): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0041 a0001c0001t0003g0004 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0016 a0001c0001t0003g0026 a0001c0001t0003g0037 a0001c0001t0003g0040 a0001c0001t0003g0042 a0001c0001t0006g0050	63	390	0.1615	-9	c.89 others(18): Show c.894_*902delTTTTTTTTT	CDK3	ENSG00000250506.9	transcript	ENST00000448471.3	protein_coding		319		chr17	TogoVar
CDK5RAP1_chr20_33353839_33406519	33358078	GTTTTTTT others(2): Show GTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02647.hp2 HG02723.hp2 others(6): Show HG02145.hp2 HG02647.hp2 HG02723.hp2 HG02818.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0320 a0001c0002t0001g0321 a0001c0002t0002g0054 others(6): Show a0001c0002t0001g0320 a0001c0002t0001g0321 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0067 a0001c0002t0002g0070 a0001c0002t0002g0075 a0001c0002t0002g0078 a0001c0002t0002g0090	9	358	0.0251	-9	c.95 others(18): Show c.956_*964delAAAAAAAAA	CDK5RAP1	ENSG00000101391.21	transcript	ENST00000346416.7	protein_coding		760		chr20	TogoVar
CDK5RAP1_chr20_33353839_33406519	33381411	TTTGTTGT others(2): Show TTTGTTGTTG	T T	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02572.hp1 NA18522.hp2 others(3): Show HG01361.hp2 HG02572.hp1 NA18522.hp2 NA19043.hp2 NA20300.hp1 NA21309.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0001 a0002c0004t0001 a0002c0003t0001 a0002c0004t0001	a0002c0003t0001g0020 a0002c0003t0001g0021 a0002c0003t0001g0022 others(3): Show a0002c0003t0001g0020 a0002c0003t0001g0021 a0002c0003t0001g0022 a0002c0003t0001g0023 a0002c0004t0001g0024 a0002c0004t0001g0025	6	358	0.0168	-9	c.877 others(26): Show c.877-1729_877-1721delCAACAACAA	CDK5RAP1	ENSG00000101391.21	transcript	ENST00000346416.7	protein_coding	7/13			chr20	TogoVar
CDK5RAP2_chr9_120383875_120585167	120507937	AAAAAAAT others(2): Show AAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp1 HG00558.hp2 others(23): Show HG00280.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG01071.hp2 HG01106.hp2 HG01168.hp2 HG01496.hp1 HG02040.hp1 HG02135.hp1 HG02451.hp1 HG02895.hp2 HG02922.hp2 HG03041.hp1 HG03130.hp1 HG03239.hp1 HG03239.hp2 NA18942.hp2 NA18954.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19074.hp1	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0015	a0001c0001 a0003c0003 a0007c0005 others(1): Show a0001c0001 a0003c0003 a0007c0005 a0015c0035	a0001c0001t0001 a0003c0003t0001 a0007c0005t0001 others(1): Show a0001c0001t0001 a0003c0003t0001 a0007c0005t0001 a0015c0035t0001	a0001c0001t0001g0010 a0001c0001t0001g0082 a0001c0001t0001g0083 others(23): Show a0001c0001t0001g0010 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0132 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0204 a0001c0001t0001g0220 a0001c0001t0001g0221 a0003c0003t0001g0109 a0003c0003t0001g0126 a0007c0005t0001g0111 a0015c0035t0001g0032	26	232	0.1121	-9	c.131 others(30): Show c.1311+10481_1311+10489delATATTTTTT	CDK5RAP2	ENSG00000136861.19	transcript	ENST00000349780.9	protein_coding	12/37			chr9	TogoVar
CDK7_chr5_69229886_69282430	69267292	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00558.hp1 others(95): Show HG00099.hp1 HG00423.hp2 HG00558.hp1 HG00609.hp1 HG00639.hp1 HG00735.hp2 HG00738.hp1 HG01071.hp2 HG01081.hp2 HG01109.hp1 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01346.hp2 HG01358.hp2 HG01928.hp2 HG01943.hp1 HG01978.hp1 HG02004.hp1 HG02027.hp2 HG02056.hp2 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02273.hp2 HG02300.hp2 HG02523.hp2 HG02602.hp2 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp2 HG03017.hp2 HG03041.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03688.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp2 NA18612.hp2 NA18747.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18946.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18956.hp2 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp2 NA18978.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18989.hp2 NA18991.hp2 NA18993.hp1 NA18994.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19056.hp2 NA19057.hp2 NA19064.hp2 NA19066.hp2 NA19070.hp2 NA19074.hp2 NA19077.hp1 NA19081.hp1 NA19085.hp2 NA19090.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0001t0001 a0001c0002t0001 a0001c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 others(91): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0226 a0001c0001t0001g0252 a0001c0002t0001g0275 a0001c0002t0001g0285 a0001c0002t0001g0309 a0001c0004t0001g0211	98	375	0.2613	-9	c.628 others(26): Show c.628-1895_628-1887delTTTTTTTTT	CDK7	ENSG00000134058.12	transcript	ENST00000256443.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDK9_chr9_127781034_127795792	127795734	CAAAAAAA others(2): Show CAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 HG02258.hp1 HG02258.hp2 others(15): Show HG02080.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02615.hp1 HG02630.hp1 HG02683.hp1 HG02723.hp2 HG02886.hp1 HG02965.hp1 HG03041.hp1 HG03239.hp1 HG03453.hp1 HG03540.hp2 HG03579.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0003 a0001c0001t0001g0023 a0001c0001t0004g0003 a0001c0001t0001g0003 a0001c0001t0001g0023 a0001c0001t0004g0003	18	412	0.0437	-9	c.61 others(20): Show c.6192_*6200delAAAAAAAAA	CDK9	ENSG00000136807.14	transcript	ENST00000373264.5	protein_coding		4943		chr9	TogoVar
CDKAL1_chr6_20529457_21237404	20547842	TTTGATTA others(2): Show TTTGATTAAG	T T	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG03490.hp1 HG01361.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0004 a0001c0006t0003 a0001c0001t0004 a0001c0006t0003	a0001c0001t0004g0031 a0001c0006t0003g0030 a0001c0001t0004g0031 a0001c0006t0003g0030	2	196	0.0102	-9	c.174 others(24): Show c.174-748_174-740delGATTAAGTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20557045	AAAAAAAA others(2): Show AAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(31): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00544.hp1 HG00621.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01361.hp2 HG01515.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp2 HG02109.hp2 HG02145.hp1 HG02280.hp2 HG02572.hp2 HG02818.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03516.hp1 HG03516.hp2 HG04184.hp1 HG06807.hp1 NA18948.hp1 NA18954.hp2 NA18983.hp1 NA18992.hp2 NA18994.hp2 NA19002.hp2 NA20300.hp2 NA20752.hp1 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0010 a0001c0011 a0001c0012 a0002c0003 a0005c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0017 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0002t0011 a0001c0002t0013 a0001c0002t0040 a0001c0004t0001 a0001c0004t0004 a0001c0006t0003 a0001c0006t0006 a0001c0010t0002 a0001c0011t0004 a0001c0012t0008 a0001c0012t0022 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 a0002c0003t0010 a0005c0014t0008	a0001c0001t0001g0126 a0001c0001t0001g0136 a0001c0001t0002g0124 others(31): Show a0001c0001t0001g0126 a0001c0001t0001g0136 a0001c0001t0002g0124 a0001c0001t0003g0113 a0001c0001t0004g0002 a0001c0001t0005g0137 a0001c0001t0008g0123 a0001c0001t0010g0109 a0001c0001t0017g0112 a0001c0001t0023g0115 a0001c0001t0025g0021 a0001c0001t0026g0001 a0001c0001t0027g0120 a0001c0002t0001g0108 a0001c0002t0003g0114 a0001c0002t0006g0110 a0001c0002t0011g0131 a0001c0002t0013g0118 a0001c0002t0013g0122 a0001c0002t0040g0125 a0001c0004t0001g0127 a0001c0004t0001g0128 a0001c0004t0004g0133 a0001c0006t0003g0029 a0001c0006t0006g0111 a0001c0010t0002g0106 a0001c0011t0004g0130 a0001c0012t0008g0129 a0001c0012t0022g0135 a0002c0003t0003g0107 a0002c0003t0004g0132 a0002c0003t0005g0121 a0002c0003t0010g0134 a0005c0014t0008g0119	34	196	0.1735	-9	c.286 others(26): Show c.286+8344_286+8352delAAAAATAAA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20637044	AAAAAAAA others(2): Show AAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02109.hp1 HG03471.hp1 others(6): Show HG01243.hp2 HG02109.hp1 HG03471.hp1 HG03516.hp1 HG03540.hp2 HG06807.hp1 NA18906.hp1 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0009 others(2): Show a0001c0001 a0001c0004 a0001c0009 a0001c0011 a0001c0012	a0001c0001t0001 a0001c0001t0025 a0001c0004t0001 others(3): Show a0001c0001t0001 a0001c0001t0025 a0001c0004t0001 a0001c0009t0004 a0001c0011t0004 a0001c0012t0008	a0001c0001t0001g0007 a0001c0001t0025g0021 a0001c0004t0001g0127 others(6): Show a0001c0001t0001g0007 a0001c0001t0025g0021 a0001c0004t0001g0127 a0001c0004t0001g0128 a0001c0009t0004g0019 a0001c0009t0004g0027 a0001c0009t0004g0028 a0001c0011t0004g0130 a0001c0012t0008g0129	9	196	0.0459	-9	c.287 others(28): Show c.287-12242_287-12234delAAGAAAAAA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20642899	AAACAACA others(2): Show AAACAACAAC	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp2 HG00673.hp2 others(26): Show HG00544.hp2 HG00621.hp2 HG00673.hp2 HG01106.hp2 HG01978.hp2 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02132.hp2 HG02273.hp2 HG02300.hp1 HG02818.hp2 HG03225.hp1 HG03704.hp1 HG03834.hp2 HG04184.hp2 HG04204.hp2 NA18948.hp2 NA18950.hp1 NA18953.hp1 NA18956.hp1 NA18966.hp2 NA18992.hp1 NA19002.hp1 NA19007.hp1 NA19010.hp1 NA19082.hp1 NA19085.hp1 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0010 others(2): Show a0001c0001 a0001c0002 a0001c0010 a0002c0003 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0025 a0001c0001t0026 a0001c0002t0002 a0001c0002t0003 a0001c0002t0012 a0001c0002t0013 a0001c0002t0016 a0001c0002t0044 a0001c0010t0002 a0001c0010t0007 a0002c0003t0002 a0002c0003t0005 a0002c0003t0013 a0002c0007t0002 a0002c0007t0005	a0001c0001t0001g0070 a0001c0001t0002g0042 a0001c0001t0003g0149 others(26): Show a0001c0001t0001g0070 a0001c0001t0002g0042 a0001c0001t0003g0149 a0001c0001t0004g0002 a0001c0001t0007g0043 a0001c0001t0008g0054 a0001c0001t0010g0051 a0001c0001t0025g0060 a0001c0001t0026g0001 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0003g0032 a0001c0002t0003g0055 a0001c0002t0012g0039 a0001c0002t0013g0034 a0001c0002t0016g0045 a0001c0002t0044g0038 a0001c0010t0002g0106 a0001c0010t0007g0044 a0002c0003t0002g0057 a0002c0003t0002g0079 a0002c0003t0005g0036 a0002c0003t0005g0053 a0002c0003t0005g0080 a0002c0003t0005g0081 a0002c0003t0013g0037 a0002c0007t0002g0048 a0002c0007t0005g0061 a0002c0007t0005g0062	29	196	0.1480	-9	c.287 others(26): Show c.287-6356_287-6348delACAACAACA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20657069	TGATGGAT others(2): Show TGATGGATTA	T T	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02922.hp1 HG01361.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0031 a0001c0001t0004 a0001c0001t0031	a0001c0001t0004g0031 a0001c0001t0031g0004 a0001c0001t0004g0031 a0001c0001t0031g0004	2	196	0.0102	-9	c.371 others(26): Show c.371+7693_371+7701delGATGGATTA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	5/15			chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20714378	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG00621.hp1 others(42): Show HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG01106.hp2 HG01361.hp1 HG01361.hp2 HG01978.hp2 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02129.hp1 HG02132.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02615.hp2 HG02647.hp1 HG02818.hp2 HG03041.hp2 HG03225.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2 NA18906.hp2 NA18948.hp2 NA18950.hp1 NA18953.hp1 NA18954.hp2 NA18956.hp1 NA18966.hp2 NA18983.hp2 NA18992.hp1 NA18994.hp2 NA19002.hp1 NA19007.hp1 NA19010.hp1 NA19082.hp1 NA19085.hp1 NA19091.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0010 a0002c0003 a0002c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(21): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0025 a0001c0001t0026 a0001c0002t0002 a0001c0002t0003 a0001c0002t0012 a0001c0002t0013 a0001c0002t0016 a0001c0002t0044 a0001c0006t0009 a0001c0008t0011 a0001c0010t0002 a0001c0010t0007 a0002c0003t0002 a0002c0003t0005 a0002c0003t0013 a0002c0007t0002 a0002c0007t0005	a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0096 others(42): Show a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0096 a0001c0001t0001g0126 a0001c0001t0003g0113 a0001c0001t0003g0149 a0001c0001t0004g0002 a0001c0001t0004g0031 a0001c0001t0004g0097 a0001c0001t0006g0011 a0001c0001t0007g0043 a0001c0001t0008g0054 a0001c0001t0010g0051 a0001c0001t0025g0060 a0001c0001t0026g0001 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0049 a0001c0002t0003g0032 a0001c0002t0003g0055 a0001c0002t0003g0073 a0001c0002t0003g0114 a0001c0002t0012g0039 a0001c0002t0013g0034 a0001c0002t0013g0122 a0001c0002t0016g0045 a0001c0002t0044g0038 a0001c0006t0009g0078 a0001c0008t0011g0068 a0001c0008t0011g0069 a0001c0010t0002g0106 a0001c0010t0007g0044 a0002c0003t0002g0013 a0002c0003t0002g0056 a0002c0003t0002g0057 a0002c0003t0002g0079 a0002c0003t0005g0036 a0002c0003t0005g0053 a0002c0003t0005g0080 a0002c0003t0005g0081 a0002c0003t0005g0121 a0002c0003t0013g0037 a0002c0007t0002g0048 a0002c0007t0005g0061 a0002c0007t0005g0062	45	196	0.2296	-9	c.372 others(28): Show c.372-25121_372-25113delTTTTTTTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20750951	GAAAAAAA others(2): Show GAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00609.hp2 HG01256.hp2 others(17): Show HG00099.hp2 HG00609.hp2 HG01256.hp2 HG01257.hp2 HG02622.hp2 HG02897.hp1 HG02965.hp1 HG03579.hp1 NA18948.hp1 NA18950.hp2 NA18954.hp1 NA18956.hp2 NA18957.hp1 NA18970.hp1 NA18978.hp2 NA18990.hp2 NA19007.hp2 NA19043.hp1 NA19085.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0035 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0012 a0001c0002t0013 a0001c0002t0045 a0001c0004t0001 a0002c0003t0002	a0001c0001t0001g0104 a0001c0001t0002g0155 a0001c0001t0006g0179 others(17): Show a0001c0001t0001g0104 a0001c0001t0002g0155 a0001c0001t0006g0179 a0001c0001t0014g0067 a0001c0001t0015g0095 a0001c0001t0015g0191 a0001c0001t0016g0178 a0001c0001t0019g0145 a0001c0001t0019g0147 a0001c0001t0035g0160 a0001c0002t0002g0063 a0001c0002t0003g0010 a0001c0002t0003g0066 a0001c0002t0005g0175 a0001c0002t0006g0110 a0001c0002t0012g0151 a0001c0002t0013g0118 a0001c0002t0045g0153 a0001c0004t0001g0101 a0002c0003t0002g0144	20	196	0.1020	-9	c.469 others(26): Show c.469-7618_469-7610delAAAAAAAAA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21093694	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01106.hp1 HG01109.hp2 others(12): Show HG00639.hp1 HG01106.hp1 HG01109.hp2 HG01361.hp1 HG01934.hp2 HG02055.hp1 HG02257.hp1 HG02300.hp2 HG02630.hp1 HG02965.hp2 HG03453.hp1 HG03471.hp2 NA18906.hp2 NA21309.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0004c0016	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(11): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0001t0015 a0001c0001t0018 a0001c0001t0032 a0001c0002t0003 a0001c0002t0005 a0001c0002t0009 a0001c0004t0001 a0001c0004t0004 a0001c0004t0018 a0001c0006t0009 a0004c0016t0001	a0001c0001t0001g0188 a0001c0001t0004g0031 a0001c0001t0004g0097 others(12): Show a0001c0001t0001g0188 a0001c0001t0004g0031 a0001c0001t0004g0097 a0001c0001t0012g0163 a0001c0001t0015g0186 a0001c0001t0018g0005 a0001c0001t0032g0196 a0001c0002t0003g0184 a0001c0002t0005g0064 a0001c0002t0009g0183 a0001c0004t0001g0128 a0001c0004t0004g0102 a0001c0004t0018g0017 a0001c0006t0009g0078 a0004c0016t0001g0185	15	196	0.0765	-9	c.123 others(30): Show c.1237-14675_1237-14667delTTTTTTTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKL1_chr14_50321265_50401881	50358636	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02559.hp2 HG02647.hp2 others(8): Show HG01891.hp1 HG02559.hp2 HG02647.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03516.hp2 HG06807.hp1 HG06807.hp2 NA19240.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0004c0004 a0006c0006 a0001c0001 a0004c0004 a0006c0006	a0001c0001t0050 a0001c0001t0073 a0001c0001t0074 others(6): Show a0001c0001t0050 a0001c0001t0073 a0001c0001t0074 a0001c0001t0076 a0001c0001t0077 a0001c0001t0094 a0001c0001t0103 a0004c0004t0020 a0006c0006t0124	a0001c0001t0050g0107 a0001c0001t0073g0154 a0001c0001t0074g0153 others(8): Show a0001c0001t0050g0107 a0001c0001t0073g0154 a0001c0001t0074g0153 a0001c0001t0076g0155 a0001c0001t0077g0156 a0001c0001t0094g0062 a0001c0001t0103g0174 a0004c0004t0020g0221 a0004c0004t0020g0222 a0004c0004t0020g0224 a0006c0006t0124g0214	11	306	0.0360	-9	c.290 others(24): Show c.290+383_290+391delAAAAAAAAA	CDKL1	ENSG00000100490.10	transcript	ENST00000395834.6	protein_coding	3/9			chr14	TogoVar
CDKL1_chr14_50321265_50401881	50385070	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01099.hp2 HG01257.hp1 others(24): Show HG00140.hp1 HG01099.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01433.hp1 HG01891.hp2 HG02004.hp1 HG02155.hp1 HG02258.hp1 HG02647.hp2 HG02723.hp2 HG02965.hp1 HG03017.hp1 HG03130.hp1 HG03130.hp2 HG03453.hp2 HG03516.hp1 HG03669.hp2 HG03688.hp1 HG06807.hp2 NA18963.hp2 NA18988.hp2 NA18990.hp1 NA19004.hp1 NA20300.hp2 NA20905.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0007 a0001c0001 a0002c0002 a0007c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0032 a0001c0001t0044 a0001c0001t0046 a0001c0001t0048 a0001c0001t0049 a0001c0001t0073 a0001c0001t0076 a0001c0001t0077 a0001c0001t0102 a0001c0001t0140 a0002c0002t0005 a0002c0002t0007 a0002c0002t0008 a0002c0002t0021 a0002c0002t0042 a0002c0002t0093 a0002c0002t0139 a0002c0002t0142 a0007c0007t0145	a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0002g0208 others(23): Show a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0002g0208 a0001c0001t0006g0239 a0001c0001t0032g0095 a0001c0001t0044g0259 a0001c0001t0044g0260 a0001c0001t0046g0103 a0001c0001t0048g0105 a0001c0001t0049g0104 a0001c0001t0073g0154 a0001c0001t0076g0155 a0001c0001t0077g0156 a0001c0001t0102g0173 a0001c0001t0140g0299 a0002c0002t0005g0079 a0002c0002t0005g0087 a0002c0002t0007g0086 a0002c0002t0008g0002 a0002c0002t0008g0081 a0002c0002t0021g0279 a0002c0002t0042g0278 a0002c0002t0093g0080 a0002c0002t0139g0258 a0002c0002t0142g0302 a0007c0007t0145g0304	27	306	0.0882	-9	c.168 others(28): Show c.168+10622_168+10630delTTTTTTTTT	CDKL1	ENSG00000100490.10	transcript	ENST00000395834.6	protein_coding	2/9			chr14	TogoVar
CDKL2_chr4_75571496_75635528	75629938	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00408.hp2 others(24): Show HG00140.hp1 HG00408.hp1 HG00408.hp2 HG01358.hp1 HG01496.hp1 HG01975.hp1 HG01981.hp2 HG02300.hp1 HG02698.hp2 HG02738.hp2 HG03492.hp2 HG04184.hp2 HG04199.hp2 NA18940.hp1 NA18941.hp1 NA18949.hp1 NA18966.hp1 NA18970.hp1 NA18972.hp1 NA18973.hp2 NA18983.hp1 NA18994.hp1 NA18999.hp2 NA19000.hp2 NA19006.hp2 NA19081.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0021 a0001c0001t0001 a0001c0001t0007 a0001c0001t0021	a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 others(24): Show a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0300 a0001c0001t0007g0253 a0001c0001t0007g0258 a0001c0001t0007g0260 a0001c0001t0007g0263 a0001c0001t0021g0254	27	306	0.0882	-9	c.-30 others(23): Show c.-30+95_-30+103delTTTTTTTTT	CDKL2	ENSG00000138769.11	transcript	ENST00000307465.9	protein_coding	1/13			chr4	TogoVar
CDKL4_chr2_39170646_39248970	39243113	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00408.hp1 others(87): Show HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01109.hp2 HG01175.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01346.hp1 HG01361.hp1 HG01516.hp1 HG01928.hp1 HG01934.hp2 HG01975.hp2 HG01978.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02165.hp1 HG02280.hp2 HG02451.hp1 HG02630.hp1 HG02683.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG03927.hp1 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18946.hp1 NA18948.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18965.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18990.hp2 NA18998.hp1 NA18999.hp1 NA19002.hp1 NA19003.hp2 NA19009.hp2 NA19054.hp2 NA19065.hp1 NA19067.hp1 NA19070.hp1 NA19074.hp1 NA19079.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp2 NA20129.hp2 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0008 a0005c0007 a0001c0001 a0001c0008 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0008t0001 a0005c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(86): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0206 a0001c0001t0001g0278 a0001c0001t0002g0078 a0001c0001t0002g0115 a0001c0001t0006g0011 a0001c0001t0006g0073 a0001c0001t0007g0128 a0001c0008t0001g0205 a0005c0007t0001g0100	90	290	0.3103	-9	c.-57 others(24): Show c.-57+749_-57+757delTTTTTTTTT	CDKL4	ENSG00000205111.10	transcript	ENST00000451199.7	protein_coding	1/9			chr2	TogoVar
CDKL5_chrX_18420608_18645196	18482549	ATGAAACT others(2): Show ATGAAACTTC	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0040 a0001c0001t0023g0040	1	192	0.0052	-9	c.-16 others(30): Show c.-162-24384_-162-24376delGAAACTTCT	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	1/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18557443	CTGGAACC others(2): Show CTGGAACCAG	C C	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA19066.hp1 NA19083.hp1 NA18988.hp1 NA19066.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0004 a0001c0001t0010	a0001c0001t0004g0186 a0001c0001t0010g0170 a0001c0001t0010g0172 a0001c0001t0004g0186 a0001c0001t0010g0170 a0001c0001t0010g0172	3	192	0.0156	-9	c.100 others(26): Show c.100-7030_100-7022delAACCAGTGG	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	3/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18626660	CCCTCTCT others(2): Show CCCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0169	1	192	0.0052	-9	c.249 others(28): Show c.2496+1415_2496+1423delCTCTCTCTC	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	17/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18626712	CTCTCTCT others(2): Show CTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0168 a0001c0001t0033g0168	1	192	0.0052	-9	c.249 others(28): Show c.2496+1466_2496+1474delTCTCTCTCT	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	17/17			chrX	TogoVar
CDKL5_chrX_18420608_18645196	18626714	CTCTCTCT others(2): Show CTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 NA18988.hp1 HG01255.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0028 a0001c0001t0010 a0001c0001t0028	a0001c0001t0010g0170 a0001c0001t0028g0175 a0001c0001t0010g0170 a0001c0001t0028g0175	2	192	0.0104	-9	c.249 others(28): Show c.2496+1468_2496+1476delTCTCTCTCT	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	17/17			chrX	TogoVar
CDKL5_chrX_18420608_18645196	18636336	TTTATTAT others(2): Show TTTATTATTA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00642.hp1 HG01106.hp1 HG01255.hp1 others(6): Show HG00642.hp1 HG01106.hp1 HG01255.hp1 HG02055.hp1 HG02293.hp1 NA19002.hp2 NA19004.hp1 NA19077.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0011 a0001c0001t0028 others(1): Show a0001c0001t0008 a0001c0001t0011 a0001c0001t0028 a0001c0001t0049	a0001c0001t0008g0054 a0001c0001t0008g0097 a0001c0001t0008g0118 others(6): Show a0001c0001t0008g0054 a0001c0001t0008g0097 a0001c0001t0008g0118 a0001c0001t0008g0120 a0001c0001t0011g0085 a0001c0001t0011g0179 a0001c0001t0011g0180 a0001c0001t0028g0175 a0001c0001t0049g0017	9	192	0.0469	-9	c.76 others(20): Show c.7618_*7626delATTATTATT	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	18/18	7618	INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKN2D_chr19_10561460_10573979	10570728	AAAAAAAA others(2): Show AAAAAAAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00408.hp1 others(57): Show HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00438.hp1 HG01074.hp2 HG01192.hp1 HG01192.hp2 HG01257.hp2 HG01261.hp1 HG01515.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02165.hp1 HG02280.hp2 HG02300.hp2 HG02486.hp1 HG02622.hp1 HG02683.hp2 HG02717.hp1 HG02738.hp1 HG02895.hp2 HG02897.hp2 HG03453.hp1 HG03579.hp1 HG03579.hp2 HG03704.hp2 HG03831.hp1 HG03942.hp1 HG04184.hp1 NA18941.hp2 NA18942.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18952.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18970.hp1 NA18971.hp1 NA18974.hp1 NA18975.hp1 NA18983.hp1 NA18992.hp1 NA19005.hp1 NA19055.hp1 NA19059.hp1 NA19063.hp1 NA19064.hp2 NA19067.hp2 NA19070.hp1 NA19080.hp1 NA19082.hp2 NA20129.hp2 NA20805.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0001t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0001g0002 a0001c0001t0002g0007 a0001c0003t0001g0008 a0001c0001t0001g0002 a0001c0001t0002g0007 a0001c0003t0001g0008	60	410	0.1463	-9	c.-20 others(20): Show c.-2084_-2076delCTTTTTTTT	CDKN2D	ENSG00000129355.7	transcript	ENST00000393599.3	protein_coding		1750		chr19	TogoVar
CDNF_chr10_14814245_14843037	14826014	CAGAAGAA others(2): Show CAGAAGAAGA	C C	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03017.hp2 HG03491.hp1 HG02735.hp2 HG03017.hp2 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0067 a0001c0001t0002g0272 a0001c0001t0002g0310 a0001c0001t0001g0067 a0001c0001t0002g0272 a0001c0001t0002g0310	3	418	0.0072	-9	c.244 others(24): Show c.244-403_244-395delTCTTCTTCT	CDNF	ENSG00000185267.10	transcript	ENST00000465530.2	protein_coding	2/3			chr10	TogoVar
CDNF_chr10_14814245_14843037	14826029	GAGAAGAA others(2): Show GAGAAGAAGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00673.hp1 others(15): Show HG00140.hp2 HG00408.hp2 HG00673.hp1 HG00741.hp1 HG01516.hp2 HG01517.hp1 HG01978.hp1 HG02280.hp1 HG02735.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03654.hp2 HG03834.hp1 NA18951.hp2 NA18952.hp1 NA18994.hp1 NA18995.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0023 a0001c0001t0001g0102 others(11): Show a0001c0001t0001g0002 a0001c0001t0001g0023 a0001c0001t0001g0102 a0001c0001t0001g0113 a0001c0001t0001g0121 a0001c0001t0001g0130 a0001c0001t0001g0139 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0183 a0001c0001t0001g0335 a0001c0001t0002g0045 a0001c0001t0002g0048 a0002c0002t0001g0160	18	418	0.0431	-9	c.244 others(24): Show c.244-418_244-410delTCTTCTTCT	CDNF	ENSG00000185267.10	transcript	ENST00000465530.2	protein_coding	2/3			chr10	TogoVar
CDNF_chr10_14814245_14843037	14826095	AAGCAGCA others(2): Show AAGCAGCAGC	A A	intron_variant intron_variant	MODIFIER	HG01943.hp2 NA18944.hp1 NA18948.hp1 others(4): Show HG01943.hp2 NA18944.hp1 NA18948.hp1 NA18950.hp2 NA18959.hp1 NA18963.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0231 a0001c0001t0002g0238 others(1): Show a0001c0001t0002g0004 a0001c0001t0002g0231 a0001c0001t0002g0238 a0001c0001t0002g0248	7	418	0.0168	-9	c.244 others(24): Show c.244-484_244-476delGCTGCTGCT	CDNF	ENSG00000185267.10	transcript	ENST00000465530.2	protein_coding	2/3			chr10	TogoVar
CDNF_chr10_14814245_14843037	14826182	AAGCAGAA others(2): Show AAGCAGAAGC	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00733.hp1 HG01255.hp2 others(29): Show HG00423.hp2 HG00733.hp1 HG01255.hp2 HG01358.hp1 HG01496.hp2 HG01516.hp1 HG01981.hp2 HG02055.hp1 HG02109.hp1 HG02257.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02615.hp1 HG02723.hp2 HG02735.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG03453.hp1 HG03540.hp1 HG04184.hp1 NA18747.hp2 NA18906.hp2 NA18967.hp2 NA18979.hp1 NA18982.hp1 NA19081.hp1 NA19084.hp2 NA19088.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0057 a0001c0001t0001g0058 others(28): Show a0001c0001t0001g0010 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088	32	418	0.0766	-9	c.244 others(24): Show c.244-571_244-563delGCTTCTGCT	CDNF	ENSG00000185267.10	transcript	ENST00000465530.2	protein_coding	2/3			chr10	TogoVar
CDNF_chr10_14814245_14843037	14826406	CAGCAGCA others(2): Show CAGCAGCAGA	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03130.hp2 HG03516.hp1 others(1): Show HG02896.hp2 HG03130.hp2 HG03516.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0348 a0001c0001t0004g0349 a0001c0001t0004g0350 others(1): Show a0001c0001t0004g0348 a0001c0001t0004g0349 a0001c0001t0004g0350 a0001c0001t0004g0351	4	418	0.0096	-9	c.244 others(24): Show c.244-795_244-787delTCTGCTGCT	CDNF	ENSG00000185267.10	transcript	ENST00000465530.2	protein_coding	2/3			chr10	TogoVar
CDR2L_chr17_74982632_75010800	74997071	TCTTTCTT others(2): Show TCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG00544.hp1 others(52): Show HG00140.hp1 HG00438.hp2 HG00544.hp1 HG00741.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp2 HG01255.hp1 HG01257.hp1 HG01346.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01928.hp1 HG01934.hp2 HG01975.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02056.hp1 HG02071.hp1 HG02132.hp1 HG02155.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03239.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03927.hp1 NA18747.hp2 NA18946.hp2 NA18952.hp1 NA18969.hp1 NA18982.hp1 NA19054.hp2 NA19063.hp2 NA19072.hp1 NA19079.hp1 NA19085.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0002 a0001c0002t0009 others(5): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0009 a0001c0002t0022 a0001c0002t0024 a0001c0002t0026 a0001c0002t0034 a0001c0003t0005	a0001c0001t0001g0075 a0001c0002t0002g0001 a0001c0002t0002g0005 others(26): Show a0001c0001t0001g0075 a0001c0002t0002g0001 a0001c0002t0002g0005 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0019 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0035 a0001c0002t0002g0080 a0001c0002t0002g0089 a0001c0002t0002g0111 a0001c0002t0002g0114 a0001c0002t0002g0115 a0001c0002t0002g0121 a0001c0002t0002g0124 a0001c0002t0002g0128 a0001c0002t0002g0130 a0001c0002t0002g0132 a0001c0002t0002g0136 a0001c0002t0009g0056 a0001c0002t0022g0005 a0001c0002t0024g0005 a0001c0002t0026g0070 a0001c0002t0034g0001 a0001c0003t0005g0027 a0001c0003t0005g0057 a0001c0003t0005g0061	55	352	0.1563	-9	c.80- others(24): Show c.80-2432_80-2424delCTTTCTTTC	CDR2L	ENSG00000109089.7	transcript	ENST00000337231.5	protein_coding	1/4			chr17	TogoVar
CDS1_chr4_84578127_84656334	84584720	AGAATCAA others(2): Show AGAATCAATG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00741.hp2 HG01258.hp1 others(9): Show HG00099.hp1 HG00741.hp2 HG01258.hp1 HG01884.hp2 HG01891.hp1 HG02486.hp2 HG02572.hp1 HG02630.hp1 HG02735.hp1 HG03710.hp1 HG03942.hp2 HG04184.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0010 a0001c0001t0018 a0002c0002t0006 a0001c0001t0010 a0001c0001t0018 a0002c0002t0006	a0001c0001t0010g0378 a0001c0001t0018g0373 a0002c0002t0006g0367 others(9): Show a0001c0001t0010g0378 a0001c0001t0018g0373 a0002c0002t0006g0367 a0002c0002t0006g0368 a0002c0002t0006g0369 a0002c0002t0006g0370 a0002c0002t0006g0371 a0002c0002t0006g0372 a0002c0002t0006g0374 a0002c0002t0006g0375 a0002c0002t0006g0376 a0002c0002t0006g0377	12	384	0.0313	-9	c.117 others(26): Show c.117+1212_117+1220delGAATCAATG	CDS1	ENSG00000163624.6	transcript	ENST00000295887.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
CDS1_chr4_84578127_84656334	84606299	TTGTGCAG others(2): Show TTGTGCAGTG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02280.hp2 HG02486.hp1 others(10): Show HG01243.hp2 HG02280.hp2 HG02486.hp1 HG02572.hp2 HG02622.hp2 HG02723.hp2 HG02922.hp1 HG02976.hp1 HG03041.hp1 HG03139.hp1 HG03209.hp2 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0024 a0001c0001t0030 a0001c0001t0004 a0001c0001t0024 a0001c0001t0030	a0001c0001t0004g0258 a0001c0001t0004g0259 a0001c0001t0004g0260 others(10): Show a0001c0001t0004g0258 a0001c0001t0004g0259 a0001c0001t0004g0260 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0264 a0001c0001t0004g0356 a0001c0001t0004g0357 a0001c0001t0004g0358 a0001c0001t0004g0359 a0001c0001t0004g0360 a0001c0001t0024g0366 a0001c0001t0030g0261	13	384	0.0339	-9	c.245 others(26): Show c.245+1934_245+1942delCAGTGTGTG	CDS1	ENSG00000163624.6	transcript	ENST00000295887.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
CDT1_chr16_88798789_88814258	88801687	CAAAAAAA others(2): Show CAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00323.hp2 others(46): Show HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00673.hp2 HG00733.hp2 HG01069.hp1 HG01071.hp2 HG01099.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01361.hp2 HG01516.hp1 HG01943.hp1 HG01978.hp1 HG02071.hp2 HG02273.hp2 HG02698.hp2 HG03239.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18963.hp2 NA18970.hp2 NA18978.hp1 NA18980.hp2 NA19002.hp2 NA19063.hp2 NA19079.hp1 NA19081.hp1 NA19085.hp2 NA19089.hp2 NA19090.hp2 NA20129.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0016	a0001c0001 a0001c0013 a0002c0002 others(3): Show a0001c0001 a0001c0013 a0002c0002 a0002c0014 a0008c0036 a0016c0024	a0001c0001t0001 a0001c0013t0001 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0013t0001 a0002c0002t0001 a0002c0002t0019 a0002c0014t0001 a0008c0036t0001 a0016c0024t0001	a0001c0001t0001g0001 a0001c0013t0001g0001 a0002c0002t0001g0001 others(6): Show a0001c0001t0001g0001 a0001c0013t0001g0001 a0002c0002t0001g0001 a0002c0002t0001g0023 a0002c0002t0001g0032 a0002c0002t0019g0001 a0002c0014t0001g0001 a0008c0036t0001g0001 a0016c0024t0001g0001	49	444	0.1104	-9	c.-21 others(20): Show c.-2144_-2136delAAAAAAAAA	CDT1	ENSG00000167513.9	transcript	ENST00000301019.9	protein_coding		2101		chr16	TogoVar
CDX4_chrX_73442053_73460171	73452123	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03195.hp1 HG02145.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	2	289	0.0069	-9	c.503 others(26): Show c.503-1381_503-1373delTTTTTTTTT	CDX4	ENSG00000131264.4	transcript	ENST00000373514.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDX4_chrX_73442053_73460171	73459807	TATCAGTT others(2): Show TATCAGTTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	289	0.0035	-9	c.52 others(20): Show c.5223_*5231delATCAGTTCC	CDX4	ENSG00000131264.4	transcript	ENST00000373514.3	protein_coding		4637		chrX	TogoVar
CDYL2_chr16_80592907_80809598	80748122	AAATAATA others(2): Show AAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02280.hp1 HG02486.hp1 others(9): Show HG01255.hp2 HG02280.hp1 HG02486.hp1 HG02717.hp2 HG02818.hp1 HG02970.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp1 NA18940.hp1 NA18960.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0010	a0001c0001t0001 a0001c0001t0007 a0001c0001t0015 others(8): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0015 a0001c0002t0044 a0001c0003t0002 a0001c0003t0016 a0001c0003t0019 a0001c0004t0009 a0001c0004t0027 a0001c0005t0011 a0001c0010t0007	a0001c0001t0001g0036 a0001c0001t0007g0125 a0001c0001t0015g0231 others(9): Show a0001c0001t0001g0036 a0001c0001t0007g0125 a0001c0001t0015g0231 a0001c0002t0044g0030 a0001c0003t0002g0116 a0001c0003t0016g0117 a0001c0003t0019g0120 a0001c0004t0009g0121 a0001c0004t0027g0206 a0001c0005t0011g0066 a0001c0005t0011g0235 a0001c0010t0007g0118	12	258	0.0465	-9	c.24+ others(26): Show c.24+56019_24+56027delATTATTATT	CDYL2	ENSG00000166446.15	transcript	ENST00000570137.7	protein_coding	1/6			chr16	TogoVar
CDYL_chr6_4771404_4960544	4784921	CCTGCCAC others(2): Show CCTGCCACCA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02258.hp2 HG02280.hp1 others(20): Show HG02145.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02647.hp1 HG02647.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03579.hp1 HG06807.hp2 NA19043.hp1 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0003t0001 a0001c0010t0004	a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0115 others(20): Show a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0002g0002 a0001c0001t0002g0020 a0001c0001t0002g0027 a0001c0001t0002g0047 a0001c0001t0002g0107 a0001c0001t0002g0112 a0001c0001t0002g0114 a0001c0001t0002g0120 a0001c0001t0002g0133 a0001c0002t0002g0001 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0003g0121 a0001c0002t0006g0152 a0001c0002t0006g0170 a0001c0003t0001g0041 a0001c0003t0001g0042 a0001c0003t0001g0153 a0001c0010t0004g0113	23	250	0.0920	-9	c.24+ others(24): Show c.24+8115_24+8123delCTGCCACCA	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	1/6			chr6	TogoVar
CEACAM19_chr19_44666482_44689355	44668476	ATATATAT others(2): Show ATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01256.hp2 HG02258.hp1 others(6): Show HG00738.hp1 HG01256.hp2 HG02258.hp1 HG02738.hp2 HG02886.hp1 HG03540.hp1 NA18995.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0009 a0001c0001t0001g0043 a0001c0001t0002g0001 others(5): Show a0001c0001t0001g0009 a0001c0001t0001g0043 a0001c0001t0002g0001 a0001c0001t0002g0028 a0001c0001t0007g0073 a0001c0001t0007g0074 a0001c0001t0007g0076 a0001c0001t0007g0079	9	390	0.0231	-9	c.-34 others(20): Show c.-3455_-3447delTATATATAT	CEACAM19	ENSG00000186567.14	transcript	ENST00000358777.10	protein_coding		3005		chr19	TogoVar
CEACAM20_chr19_44501159_44534675	44528149	CTTTCTTT others(2): Show CTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03209.hp1 HG03540.hp1 HG02486.hp2 HG03209.hp1 HG03540.hp1	a0001 a0006 a0022 a0001 a0006 a0022	a0001c0001 a0006c0010 a0022c0028 a0001c0001 a0006c0010 a0022c0028	a0001c0001t0001 a0006c0010t0001 a0022c0028t0001 a0001c0001t0001 a0006c0010t0001 a0022c0028t0001	a0001c0001t0001g0191 a0006c0010t0001g0123 a0022c0028t0001g0069 a0001c0001t0001g0191 a0006c0010t0001g0123 a0022c0028t0001g0069	3	438	0.0069	-9	c.52+ others(24): Show c.52+1300_52+1308delAGAAAGAAA	CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding	1/11			chr19	TogoVar
CEACAM20_chr19_44501159_44534675	44528161	TCTTTCTT others(2): Show TCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00438.hp1 others(89): Show HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00621.hp1 HG00738.hp1 HG01070.hp1 HG01099.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01928.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02132.hp1 HG02155.hp2 HG02165.hp2 HG02293.hp2 HG02523.hp2 HG02698.hp2 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02970.hp2 HG02976.hp2 HG03225.hp1 HG03579.hp1 HG03669.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp2 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18945.hp1 NA18946.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18963.hp1 NA18965.hp2 NA18966.hp1 NA18968.hp2 NA18971.hp1 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18986.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18995.hp1 NA18998.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19054.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp2 NA19083.hp2 NA19085.hp2 NA19088.hp1 NA19091.hp2 NA20300.hp1 NA20752.hp1	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0012 a0016 a0027 a0030	a0001c0001 a0001c0047 a0003c0004 others(5): Show a0001c0001 a0001c0047 a0003c0004 a0004c0003 a0012c0016 a0016c0031 a0027c0044 a0030c0043	a0001c0001t0001 a0001c0047t0001 a0003c0004t0001 others(5): Show a0001c0001t0001 a0001c0047t0001 a0003c0004t0001 a0004c0003t0001 a0012c0016t0001 a0016c0031t0001 a0027c0044t0001 a0030c0043t0001	a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 others(80): Show a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0181 a0001c0001t0001g0197 a0001c0047t0001g0182 a0003c0004t0001g0005 a0003c0004t0001g0006 a0003c0004t0001g0020 a0003c0004t0001g0026 a0003c0004t0001g0223 a0003c0004t0001g0285 a0003c0004t0001g0287 a0003c0004t0001g0296 a0003c0004t0001g0297 a0003c0004t0001g0298 a0003c0004t0001g0299 a0003c0004t0001g0300 a0003c0004t0001g0301 a0003c0004t0001g0303 a0003c0004t0001g0304 a0003c0004t0001g0305 a0003c0004t0001g0306 a0003c0004t0001g0307 a0003c0004t0001g0308 a0003c0004t0001g0310 a0003c0004t0001g0311 a0003c0004t0001g0316 a0003c0004t0001g0318 a0003c0004t0001g0327 a0003c0004t0001g0330 a0003c0004t0001g0331 a0003c0004t0001g0349 a0003c0004t0001g0350 a0003c0004t0001g0351 a0003c0004t0001g0356 a0003c0004t0001g0384 a0003c0004t0001g0386 a0003c0004t0001g0387 a0003c0004t0001g0388 a0003c0004t0001g0397 a0003c0004t0001g0401 a0003c0004t0001g0403 a0003c0004t0001g0404 a0004c0003t0001g0021 a0004c0003t0001g0025 a0004c0003t0001g0027 a0004c0003t0001g0288 a0004c0003t0001g0290 a0004c0003t0001g0291 a0004c0003t0001g0292 a0004c0003t0001g0293 a0004c0003t0001g0294 a0004c0003t0001g0302 a0004c0003t0001g0312 a0004c0003t0001g0313 a0004c0003t0001g0317 a0004c0003t0001g0319 a0004c0003t0001g0320 a0004c0003t0001g0321 a0004c0003t0001g0322 a0004c0003t0001g0323 a0004c0003t0001g0324 a0004c0003t0001g0325 a0004c0003t0001g0326 a0004c0003t0001g0328 a0004c0003t0001g0329 a0004c0003t0001g0352 a0004c0003t0001g0353 a0004c0003t0001g0381 a0004c0003t0001g0382 a0004c0003t0001g0383 a0004c0003t0001g0394 a0004c0003t0001g0395 a0004c0003t0001g0396 a0012c0016t0001g0289 a0012c0016t0001g0295 a0012c0016t0001g0309 a0012c0016t0001g0314 a0016c0031t0001g0221 a0016c0031t0001g0379 a0027c0044t0001g0315 a0030c0043t0001g0385	92	438	0.2101	-9	c.52+ others(24): Show c.52+1288_52+1296delGAAAGAAAG	CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding	1/11			chr19	TogoVar
CEACAM20_chr19_44501159_44534675	44532516	AGAAAGAA others(2): Show AGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02273.hp1 NA18944.hp2 others(5): Show HG02132.hp2 HG02273.hp1 NA18944.hp2 NA18954.hp2 NA18959.hp1 NA18993.hp2 NA19009.hp2 NA19067.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0011 a0002c0002 a0004c0011	a0002c0002t0001 a0004c0011t0001 a0002c0002t0001 a0004c0011t0001	a0002c0002t0001g0243 a0002c0002t0001g0245 a0002c0002t0001g0246 others(5): Show a0002c0002t0001g0243 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0255 a0002c0002t0001g0264 a0002c0002t0001g0277 a0002c0002t0001g0374 a0004c0011t0001g0009	8	438	0.0183	-9	c.-30 others(20): Show c.-3016_-3008delCTTTCTTTC	CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding		2842		chr19	TogoVar
CEACAM20_chr19_44501159_44534675	44532556	GAAAGAAA others(2): Show GAAAGAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG01074.hp1 HG02300.hp2 others(3): Show HG00140.hp2 HG01074.hp1 HG02300.hp2 HG03490.hp2 HG03492.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0153 a0001c0001t0001g0199 others(2): Show a0001c0001t0001g0010 a0001c0001t0001g0153 a0001c0001t0001g0199 a0001c0001t0001g0225 a0001c0001t0001g0226	6	438	0.0137	-9	c.-30 others(20): Show c.-3056_-3048delTCTTTCTTT	CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding		2882		chr19	TogoVar
CEBPG_chr19_33368709_33387686	33385053	CTTTTTTT others(2): Show CTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG01081.hp1 HG01175.hp2 others(14): Show HG00099.hp2 HG01081.hp1 HG01175.hp2 HG01258.hp2 HG01884.hp2 HG01993.hp2 HG02155.hp2 HG02300.hp2 HG02630.hp1 HG02698.hp2 HG02965.hp2 HG03669.hp2 HG06807.hp2 NA18954.hp1 NA18956.hp2 NA19086.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0003g0004 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0003g0004 a0001c0001t0004g0002 a0001c0001t0004g0030	17	436	0.0390	-9	c.53 others(20): Show c.5362_*5370delTTTTTTTTT	CEBPG	ENSG00000153879.9	transcript	ENST00000284000.9	protein_coding		2368		chr19	TogoVar
CEBPZOS_chr2_37191496_37209743	37193570	AAAAAAGA others(2): Show AAAAAAGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00423.hp2 others(25): Show HG00099.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG01192.hp2 HG01257.hp2 HG01934.hp2 HG02080.hp2 HG02300.hp1 HG02698.hp1 HG03239.hp1 HG03831.hp1 HG03834.hp1 NA18612.hp2 NA18952.hp2 NA18961.hp1 NA18971.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18986.hp1 NA18995.hp1 NA18997.hp1 NA19011.hp2 NA19058.hp1 NA19063.hp1 NA19072.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 others(3): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0001t0014 a0001c0001t0019 a0001c0001t0034	a0001c0001t0002g0002 a0001c0001t0002g0030 a0001c0001t0007g0002 others(4): Show a0001c0001t0002g0002 a0001c0001t0002g0030 a0001c0001t0007g0002 a0001c0001t0009g0022 a0001c0001t0014g0002 a0001c0001t0019g0010 a0001c0001t0034g0010	28	466	0.0601	-9	c.-29 others(20): Show c.-2951_-2943delAAAAAGAAG	CEBPZOS	ENSG00000218739.10	transcript	ENST00000402297.6	protein_coding		2925		chr2	TogoVar
CEBPZOS_chr2_37191496_37209743	37193588	GAAGAAGA others(2): Show GAAGAAGAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp2 HG02280.hp2 HG02683.hp2 others(1): Show HG02148.hp2 HG02280.hp2 HG02683.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0073 a0001c0001t0003 a0001c0001t0073	a0001c0001t0003g0011 a0001c0001t0073g0028 a0001c0001t0003g0011 a0001c0001t0073g0028	4	466	0.0086	-9	c.-29 others(20): Show c.-2933_-2925delAAGAAGAAA	CEBPZOS	ENSG00000218739.10	transcript	ENST00000402297.6	protein_coding		2907		chr2	TogoVar
CEBPZOS_chr2_37191496_37209743	37193597	AAAGAAGA others(2): Show AAAGAAGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG02055.hp1 others(15): Show HG01069.hp1 HG01071.hp2 HG02055.hp1 HG02109.hp2 HG02486.hp1 HG02486.hp2 HG02895.hp2 HG02896.hp1 HG02965.hp1 HG03669.hp1 HG03927.hp1 HG04228.hp1 NA18945.hp1 NA18954.hp1 NA18959.hp2 NA18961.hp2 NA18990.hp2 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0015 a0001c0001t0038 a0001c0001t0039 a0001c0001t0052 a0001c0001t0071 a0001c0001t0083	a0001c0001t0001g0003 a0001c0001t0003g0005 a0001c0001t0004g0006 others(7): Show a0001c0001t0001g0003 a0001c0001t0003g0005 a0001c0001t0004g0006 a0001c0001t0012g0003 a0001c0001t0015g0003 a0001c0001t0038g0038 a0001c0001t0039g0005 a0001c0001t0052g0003 a0001c0001t0071g0003 a0001c0001t0083g0006	18	466	0.0386	-9	c.-29 others(20): Show c.-2924_-2916delAAGAAGAAG	CEBPZOS	ENSG00000218739.10	transcript	ENST00000402297.6	protein_coding		2898		chr2	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)