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
CDK19_chr6_110604978_110820469	110705834	TCACACAC others(4): Show TCACACACTGGG	T T	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0201 a0001c0001t0008g0201	1	300	0.0033	-11	c.205 others(30): Show c.205-35304_205-35294delCCCAGTGTGTG	CDK19	ENSG00000155111.15	transcript	ENST00000368911.8	protein_coding	2/12			chr6	TogoVar
CDK19_chr6_110604978_110820469	110759427	AAATATAT others(4): Show AAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp1 HG03540.hp1 others(1): Show HG02109.hp1 HG02280.hp1 HG03540.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0038 a0001c0001t0013 a0001c0001t0038	a0001c0001t0013g0284 a0001c0001t0013g0285 a0001c0001t0013g0288 others(1): Show a0001c0001t0013g0284 a0001c0001t0013g0285 a0001c0001t0013g0288 a0001c0001t0038g0287	4	300	0.0133	-11	c.129 others(30): Show c.129-13237_129-13227delATATATATATT	CDK19	ENSG00000155111.15	transcript	ENST00000368911.8	protein_coding	1/12			chr6	TogoVar
CDK19_chr6_110604978_110820469	110784158	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03130.hp1 HG02818.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0214 a0001c0001t0017g0215 a0001c0001t0017g0214 a0001c0001t0017g0215	2	300	0.0067	-11	c.128 others(30): Show c.128+30840_128+30850delTTTTTTTTTTT	CDK19	ENSG00000155111.15	transcript	ENST00000368911.8	protein_coding	1/12			chr6	TogoVar
CDK2AP1_chr12_123255976_123276856	123264462	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	328	0.0031	-11	c.280 others(26): Show c.280+723_280+733delTTTTTTTTTTT	CDK2AP1	ENSG00000111328.7	transcript	ENST00000261692.7	protein_coding	3/3			chr12	TogoVar
CDK2_chr12_55961830_55977789	55970288	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp2 HG02896.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	2	410	0.0049	-11	c.588 others(26): Show c.588+731_589-727delAAAAAAAAAAA	CDK2	ENSG00000123374.11	transcript	ENST00000266970.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
CDK3_chr17_75995855_76010998	75998151	CTTTTTCC others(4): Show CTTTTTCCTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	390	0.0026	-11	c.-28 others(22): Show c.-2830_-2820delTTTTTCCTTTT	CDK3	ENSG00000250506.9	transcript	ENST00000448471.3	protein_coding		2703		chr17	TogoVar
CDK4_chr12_57742727_57757310	57750188	TAAATAAA others(4): Show TAAATAAATAAA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03195.hp1 HG02723.hp2 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0029 a0001c0002t0004g0029	2	364	0.0055	-11	c.632 others(26): Show c.632+457_632+467delTTTATTTATTT	CDK4	ENSG00000135446.17	transcript	ENST00000257904.11	protein_coding	5/7			chr12	TogoVar
CDK5R2_chr2_218954666_218967155	218966451	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0000 a0001c0001t0004g0000	1	388	0.0026	-11	c.55 others(22): Show c.5528_*5538delAAAAAAAAAAA	CDK5R2	ENSG00000171450.6	transcript	ENST00000302625.6	protein_coding		4297		chr2	TogoVar
CDK5RAP1_chr20_33353839_33406519	33356754	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0088 a0001c0002t0001g0088	1	358	0.0028	-11	c.22 others(22): Show c.2278_*2288delTTTTTTTTTTT	CDK5RAP1	ENSG00000101391.21	transcript	ENST00000346416.7	protein_coding		2084		chr20	TogoVar
CDK5RAP1_chr20_33353839_33406519	33368459	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	358	0.0028	-11	c.139 others(30): Show c.1393-1462_1393-1452delAAAAAAAAAAA	CDK5RAP1	ENSG00000101391.21	transcript	ENST00000346416.7	protein_coding	11/13			chr20	TogoVar
CDK5RAP2_chr9_120383875_120585167	120412220	CTATTTCA others(4): Show CTATTTCACAGG	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0183 a0001c0001t0001g0132 a0001c0001t0001g0183	2	232	0.0086	-11	c.429 others(28): Show c.4298-757_4298-747delCCTGTGAAATA	CDK5RAP2	ENSG00000136861.19	transcript	ENST00000349780.9	protein_coding	28/37			chr9	TogoVar
CDK5RAP2_chr9_120383875_120585167	120497421	TAAAAAAA others(4): Show TAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	232	0.0043	-11	c.131 others(30): Show c.1312-5955_1312-5945delTTTTTTTTTTT	CDK5RAP2	ENSG00000136861.19	transcript	ENST00000349780.9	protein_coding	12/37			chr9	TogoVar
CDK5RAP2_chr9_120383875_120585167	120558371	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0032 a0002c0032	a0002c0032t0003 a0002c0032t0003	a0002c0032t0003g0224 a0002c0032t0003g0224	1	232	0.0043	-11	c.196 others(28): Show c.196-7480_196-7470delTTTTTTTTTTT	CDK5RAP2	ENSG00000136861.19	transcript	ENST00000349780.9	protein_coding	3/37			chr9	TogoVar
CDK7_chr5_69229886_69282430	69241307	GTTTTTTC others(4): Show GTTTTTTCTTTT	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00642.hp1 HG00733.hp1 others(82): Show HG00609.hp2 HG00642.hp1 HG00733.hp1 HG00741.hp2 HG01074.hp1 HG01243.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01943.hp1 HG02004.hp2 HG02071.hp2 HG02080.hp1 HG02145.hp2 HG02273.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03688.hp2 HG03710.hp1 HG03927.hp2 NA18522.hp2 NA18906.hp1 NA18940.hp2 NA18945.hp1 NA18950.hp2 NA18953.hp1 NA18959.hp2 NA18960.hp1 NA18964.hp2 NA18980.hp2 NA18987.hp1 NA18990.hp2 NA18992.hp2 NA18995.hp1 NA19000.hp2 NA19007.hp2 NA19011.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp2 NA19078.hp2 NA19085.hp1 NA19087.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0001 a0001c0002t0001 a0002c0005t0001 a0001c0001t0001 a0001c0002t0001 a0002c0005t0001	a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 others(76): Show a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0205 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0002t0001g0004 a0001c0002t0001g0219 a0001c0002t0001g0220 a0002c0005t0001g0182	85	375	0.2267	-11	c.126 others(28): Show c.126+5861_126+5871delCTTTTTTTTTT	CDK7	ENSG00000134058.12	transcript	ENST00000256443.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDK7_chr5_69229886_69282430	69245295	TTCCCCCT others(4): Show TTCCCCCTCCCC	T T	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	375	0.0027	-11	c.127 others(28): Show c.127-7121_127-7111delCCCCCTCCCCT	CDK7	ENSG00000134058.12	transcript	ENST00000256443.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDK7_chr5_69229886_69282430	69245297	CCCCCTCC others(4): Show CCCCCTCCCCTT	C C	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	375	0.0027	-11	c.127 others(28): Show c.127-7116_127-7106delTCCCCTTCCCC	CDK7	ENSG00000134058.12	transcript	ENST00000256443.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDK7_chr5_69229886_69282430	69267292	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02717.hp1 HG03098.hp1 HG01243.hp1 HG02717.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0337 a0001c0002t0001g0338 a0001c0002t0003g0339 a0001c0002t0001g0337 a0001c0002t0001g0338 a0001c0002t0003g0339	3	375	0.0080	-11	c.628 others(28): Show c.628-1897_628-1887delTTTTTTTTTTT	CDK7	ENSG00000134058.12	transcript	ENST00000256443.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDKAL1_chr6_20529457_21237404	20533368	TAAAAAAA others(4): Show TAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01109.hp2 HG01256.hp2 others(13): Show HG00642.hp1 HG01109.hp2 HG01256.hp2 HG02109.hp1 HG02145.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp2 HG02922.hp1 HG02965.hp2 HG03195.hp2 HG03225.hp2 HG03453.hp2 HG03579.hp2 HG04204.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0013 a0002c0003 a0002c0007	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(10): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0018 a0001c0001t0031 a0001c0002t0003 a0001c0002t0041 a0001c0004t0007 a0001c0004t0018 a0001c0005t0001 a0001c0013t0004 a0002c0003t0002 a0002c0007t0029	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0018 others(13): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0006g0011 a0001c0001t0008g0016 a0001c0001t0018g0005 a0001c0001t0031g0004 a0001c0002t0003g0008 a0001c0002t0003g0010 a0001c0002t0041g0012 a0001c0004t0007g0015 a0001c0004t0018g0017 a0001c0005t0001g0009 a0001c0013t0004g0006 a0002c0003t0002g0013 a0002c0007t0029g0014	16	196	0.0816	-11	c.-12 others(22): Show c.-1255_-1245delAAAAAAAAAAA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding		1088		chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20548766	AAATAGCC others(4): Show AAATAGCCTAGC	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0179 a0001c0001t0006g0179	1	196	0.0051	-11	c.286 others(24): Show c.286+63_286+73delATAGCCTAGCA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20609221	TCTTCTTT others(4): Show TCTTCTTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03540.hp1 HG02965.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0026 a0001c0001t0018 a0001c0001t0026	a0001c0001t0018g0005 a0001c0001t0026g0058 a0001c0001t0018g0005 a0001c0001t0026g0058	2	196	0.0102	-11	c.287 others(30): Show c.287-40065_287-40055delTCTTCCTTCTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20613249	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0092 a0001c0006t0006g0092	1	196	0.0051	-11	c.287 others(30): Show c.287-36011_287-36001delTTTTTTTTTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20693129	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0179 a0001c0001t0006g0179	1	196	0.0051	-11	c.371 others(30): Show c.371+43770_371+43780delAAAAAAAAAAA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20714378	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02257.hp1 HG01257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0033 a0001c0002t0003 a0001c0002t0033	a0001c0002t0003g0184 a0001c0002t0033g0193 a0001c0002t0003g0184 a0001c0002t0033g0193	2	196	0.0102	-11	c.372 others(30): Show c.372-25123_372-25113delTTTTTTTTTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20736161	GATTAGCA others(4): Show GATTAGCAAACT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp2 HG00621.hp2 others(32): Show HG00140.hp1 HG00544.hp2 HG00621.hp2 HG01106.hp2 HG01257.hp2 HG01258.hp1 HG01361.hp2 HG01516.hp2 HG01943.hp2 HG01978.hp2 HG02027.hp1 HG02056.hp1 HG02129.hp1 HG02132.hp2 HG02273.hp2 HG02300.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp2 HG04228.hp1 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 NA19091.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0001c0010 a0002c0003 a0002c0007	a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 others(16): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0025 a0001c0002t0002 a0001c0002t0003 a0001c0002t0012 a0001c0002t0013 a0001c0002t0016 a0001c0002t0020 a0001c0002t0044 a0001c0006t0009 a0001c0010t0007 a0002c0003t0002 a0002c0003t0005 a0002c0003t0013 a0002c0003t0020 a0002c0007t0002 a0002c0007t0005	a0001c0001t0003g0113 a0001c0001t0003g0149 a0001c0001t0007g0043 others(32): Show a0001c0001t0003g0113 a0001c0001t0003g0149 a0001c0001t0007g0043 a0001c0001t0010g0035 a0001c0001t0010g0109 a0001c0001t0025g0060 a0001c0002t0002g0041 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0049 a0001c0002t0003g0032 a0001c0002t0003g0073 a0001c0002t0003g0114 a0001c0002t0012g0039 a0001c0002t0013g0034 a0001c0002t0013g0122 a0001c0002t0016g0045 a0001c0002t0020g0116 a0001c0002t0044g0038 a0001c0006t0009g0078 a0001c0010t0007g0044 a0002c0003t0002g0056 a0002c0003t0002g0057 a0002c0003t0002g0079 a0002c0003t0002g0144 a0002c0003t0002g0157 a0002c0003t0005g0036 a0002c0003t0005g0053 a0002c0003t0005g0080 a0002c0003t0005g0081 a0002c0003t0013g0037 a0002c0003t0020g0075 a0002c0007t0002g0048 a0002c0007t0005g0061 a0002c0007t0005g0062	35	196	0.1786	-11	c.372 others(28): Show c.372-3344_372-3334delTAGCAAACTAT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20807624	TAAAATTA others(4): Show TAAAATTAATCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(144): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18906.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18978.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19043.hp1 NA19043.hp2 NA19082.hp1 NA19085.hp1 NA19085.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0004 others(11): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0002c0003 a0002c0007 a0005c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(76): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0031 a0001c0001t0032 a0001c0001t0035 a0001c0001t0042 a0001c0001t0046 a0001c0001t0048 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0002t0012 a0001c0002t0013 a0001c0002t0016 a0001c0002t0020 a0001c0002t0028 a0001c0002t0033 a0001c0002t0040 a0001c0002t0041 a0001c0002t0043 a0001c0002t0044 a0001c0002t0045 a0001c0002t0049 a0001c0004t0001 a0001c0004t0007 a0001c0005t0004 a0001c0005t0006 a0001c0005t0007 a0001c0005t0021 a0001c0006t0002 a0001c0006t0003 a0001c0006t0006 a0001c0006t0009 a0001c0008t0004 a0001c0008t0011 a0001c0009t0004 a0001c0010t0002 a0001c0010t0007 a0001c0010t0017 a0001c0011t0004 a0001c0012t0008 a0001c0013t0004 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 a0002c0003t0010 a0002c0003t0013 a0002c0003t0020 a0002c0007t0002 a0002c0007t0005 a0002c0007t0030 a0002c0007t0036 a0002c0007t0038 a0005c0014t0008	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0018 others(144): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0104 a0001c0001t0001g0126 a0001c0001t0001g0136 a0001c0001t0001g0176 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0002g0042 a0001c0001t0002g0124 a0001c0001t0002g0141 a0001c0001t0002g0155 a0001c0001t0003g0082 a0001c0001t0003g0113 a0001c0001t0003g0149 a0001c0001t0003g0162 a0001c0001t0004g0002 a0001c0001t0004g0083 a0001c0001t0005g0189 a0001c0001t0006g0011 a0001c0001t0006g0179 a0001c0001t0007g0043 a0001c0001t0008g0016 a0001c0001t0008g0054 a0001c0001t0008g0123 a0001c0001t0009g0138 a0001c0001t0010g0035 a0001c0001t0010g0051 a0001c0001t0010g0109 a0001c0001t0012g0163 a0001c0001t0014g0067 a0001c0001t0014g0072 a0001c0001t0015g0095 a0001c0001t0015g0186 a0001c0001t0015g0191 a0001c0001t0016g0178 a0001c0001t0017g0112 a0001c0001t0019g0145 a0001c0001t0019g0147 a0001c0001t0021g0177 a0001c0001t0024g0152 a0001c0001t0025g0021 a0001c0001t0025g0060 a0001c0001t0026g0001 a0001c0001t0026g0058 a0001c0001t0027g0120 a0001c0001t0031g0004 a0001c0001t0032g0196 a0001c0001t0035g0160 a0001c0001t0042g0142 a0001c0001t0046g0077 a0001c0001t0048g0143 a0001c0002t0001g0108 a0001c0002t0001g0148 a0001c0002t0002g0041 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0049 a0001c0002t0002g0063 a0001c0002t0002g0195 a0001c0002t0003g0008 a0001c0002t0003g0010 a0001c0002t0003g0032 a0001c0002t0003g0055 a0001c0002t0003g0066 a0001c0002t0003g0073 a0001c0002t0003g0114 a0001c0002t0003g0140 a0001c0002t0003g0165 a0001c0002t0003g0170 a0001c0002t0003g0184 a0001c0002t0005g0064 a0001c0002t0005g0175 a0001c0002t0006g0050 a0001c0002t0006g0052 a0001c0002t0006g0110 a0001c0002t0007g0187 a0001c0002t0008g0040 a0001c0002t0009g0183 a0001c0002t0012g0039 a0001c0002t0012g0076 a0001c0002t0012g0151 a0001c0002t0013g0034 a0001c0002t0013g0118 a0001c0002t0013g0122 a0001c0002t0016g0045 a0001c0002t0020g0116 a0001c0002t0028g0103 a0001c0002t0028g0117 a0001c0002t0033g0193 a0001c0002t0040g0125 a0001c0002t0041g0012 a0001c0002t0043g0190 a0001c0002t0044g0038 a0001c0002t0045g0153 a0001c0002t0049g0059 a0001c0004t0001g0101 a0001c0004t0001g0127 a0001c0004t0001g0128 a0001c0004t0007g0022 a0001c0005t0004g0033 a0001c0005t0006g0085 a0001c0005t0007g0084 a0001c0005t0021g0026 a0001c0006t0002g0166 a0001c0006t0003g0029 a0001c0006t0003g0030 a0001c0006t0006g0111 a0001c0006t0009g0078 a0001c0008t0004g0105 a0001c0008t0011g0181 a0001c0009t0004g0019 a0001c0009t0004g0027 a0001c0009t0004g0028 a0001c0010t0002g0106 a0001c0010t0007g0044 a0001c0010t0017g0194 a0001c0011t0004g0130 a0001c0012t0008g0129 a0001c0013t0004g0006 a0002c0003t0002g0013 a0002c0003t0002g0056 a0002c0003t0002g0057 a0002c0003t0002g0079 a0002c0003t0002g0144 a0002c0003t0002g0157 a0002c0003t0003g0107 a0002c0003t0004g0132 a0002c0003t0005g0036 a0002c0003t0005g0053 a0002c0003t0005g0080 a0002c0003t0005g0081 a0002c0003t0005g0121 a0002c0003t0010g0134 a0002c0003t0013g0037 a0002c0003t0020g0075 a0002c0007t0002g0048 a0002c0007t0005g0061 a0002c0007t0005g0062 a0002c0007t0030g0025 a0002c0007t0036g0024 a0002c0007t0038g0173 a0005c0014t0008g0119	147	196	0.7500	-11	c.638 others(30): Show c.638+26379_638+26389delTCCAAAATTAA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20853004	TGCAACTA others(4): Show TGCAACTATTTA	T T	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	196	0.0051	-11	c.742 others(28): Show c.742+6828_742+6838delCAACTATTTAG	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20855442	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0057 a0002c0003t0002g0057	1	196	0.0051	-11	c.742 others(28): Show c.742+9284_742+9294delAAAAAAAAAAA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20948010	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0045 a0001c0002t0045	a0001c0002t0045g0153 a0001c0002t0045g0153	1	196	0.0051	-11	c.743 others(28): Show c.743-7397_743-7387delTTTTTTTTTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21069770	CTTTCTTT others(4): Show CTTTCTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03195.hp2 HG02622.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0041 a0001c0001t0008 a0001c0002t0041	a0001c0001t0008g0016 a0001c0002t0041g0012 a0001c0001t0008g0016 a0001c0002t0041g0012	2	196	0.0102	-11	c.123 others(30): Show c.1236+4546_1236+4556delCTTTTTTTTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21093691	CTGCTTTT others(4): Show CTGCTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0030 a0002c0007t0030	a0002c0007t0030g0025 a0002c0007t0030g0025	1	196	0.0051	-11	c.123 others(32): Show c.1237-14708_1237-14698delGCTTTTTTTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21191992	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG02818.hp1 HG01256.hp1 HG01258.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0034 a0001c0001t0009 a0001c0002t0034	a0001c0001t0009g0087 a0001c0001t0009g0089 a0001c0002t0034g0182 a0001c0001t0009g0087 a0001c0001t0009g0089 a0001c0002t0034g0182	3	196	0.0153	-11	c.130 others(30): Show c.1300-5999_1300-5989delTTTTTTTTTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21203215	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03225.hp2 NA19043.hp2 HG02630.hp2 HG03225.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 a0001c0001 a0001c0004 a0001c0005	a0001c0001t0003 a0001c0004t0007 a0001c0005t0007 a0001c0001t0003 a0001c0004t0007 a0001c0005t0007	a0001c0001t0003g0082 a0001c0004t0007g0015 a0001c0005t0007g0084 a0001c0001t0003g0082 a0001c0004t0007g0015 a0001c0005t0007g0084	3	196	0.0153	-11	c.154 others(30): Show c.1548+1968_1548+1978delTTTTTTTTTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKL1_chr14_50321265_50401881	50335295	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03195.hp1 NA19240.hp2 HG02559.hp2 HG03195.hp1 NA19240.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0020 a0004c0004t0020	a0004c0004t0020g0221 a0004c0004t0020g0222 a0004c0004t0020g0224 a0004c0004t0020g0221 a0004c0004t0020g0222 a0004c0004t0020g0224	3	306	0.0098	-11	c.739 others(26): Show c.739-685_739-675delTTTTTTTTTTT	CDKL1	ENSG00000100490.10	transcript	ENST00000395834.6	protein_coding	7/9			chr14	TogoVar
CDKL1_chr14_50321265_50401881	50361856	ACTTGAGG others(4): Show ACTTGAGGAGCC	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0109 a0002c0002t0109	a0002c0002t0109g0004 a0002c0002t0109g0004	1	306	0.0033	-11	c.169 others(28): Show c.169-2718_169-2708delGGCTCCTCAAG	CDKL1	ENSG00000100490.10	transcript	ENST00000395834.6	protein_coding	2/9			chr14	TogoVar
CDKL2_chr4_75571496_75635528	75571671	GTTTTTTT others(4): Show GTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00639.hp2 HG00738.hp1 others(21): Show HG00544.hp2 HG00639.hp2 HG00738.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01496.hp2 HG01884.hp1 HG02280.hp1 HG02723.hp1 HG02809.hp2 HG03486.hp2 HG03710.hp2 NA18962.hp1 NA18983.hp2 NA18987.hp1 NA19001.hp2 NA19006.hp1 NA19043.hp1 NA19087.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0011 a0001c0001t0004 a0001c0001t0011	a0001c0001t0004g0002 a0001c0001t0004g0015 a0001c0001t0004g0054 others(21): Show a0001c0001t0004g0002 a0001c0001t0004g0015 a0001c0001t0004g0054 a0001c0001t0004g0055 a0001c0001t0004g0056 a0001c0001t0004g0058 a0001c0001t0004g0060 a0001c0001t0004g0063 a0001c0001t0004g0066 a0001c0001t0004g0068 a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0004g0073 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0078 a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0082 a0001c0001t0004g0084 a0001c0001t0011g0049 a0001c0001t0011g0052 a0001c0001t0011g0053 a0001c0001t0011g0067	24	306	0.0784	-11	c.75 others(22): Show c.7520_*7530delAAAAAAAAAAA	CDKL2	ENSG00000138769.11	transcript	ENST00000307465.9	protein_coding		4824		chr4	TogoVar
CDKL2_chr4_75571496_75635528	75574389	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG01099.hp2 HG01123.hp2 others(8): Show HG00099.hp2 HG01099.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01516.hp2 HG01993.hp1 HG02004.hp2 HG02145.hp2 HG02572.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008	a0001c0001t0003g0001 a0001c0001t0003g0011 a0001c0001t0003g0019 others(8): Show a0001c0001t0003g0001 a0001c0001t0003g0011 a0001c0001t0003g0019 a0001c0001t0003g0027 a0001c0001t0003g0029 a0001c0001t0003g0031 a0001c0001t0003g0037 a0001c0001t0003g0039 a0001c0001t0006g0176 a0001c0001t0008g0044 a0001c0001t0008g0045	11	306	0.0360	-11	c.48 others(22): Show c.4802_*4812delTTTTTTTTTTT	CDKL2	ENSG00000138769.11	transcript	ENST00000307465.9	protein_coding		2106		chr4	TogoVar
CDKL2_chr4_75571496_75635528	75619577	TAAAAAAA others(4): Show TAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02809.hp1 HG03098.hp1 others(1): Show HG01243.hp1 HG02809.hp1 HG03098.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0088 a0001c0001t0009g0089 a0001c0001t0009g0090 others(1): Show a0001c0001t0009g0088 a0001c0001t0009g0089 a0001c0001t0009g0090 a0001c0001t0009g0093	4	306	0.0131	-11	c.169 others(28): Show c.169-5139_169-5129delTTTTTTTTTTT	CDKL2	ENSG00000138769.11	transcript	ENST00000307465.9	protein_coding	2/13			chr4	TogoVar
CDKL2_chr4_75571496_75635528	75622715	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0198 a0001c0001t0007g0198	1	306	0.0033	-11	c.168 others(28): Show c.168+3095_168+3105delTTTTTTTTTTT	CDKL2	ENSG00000138769.11	transcript	ENST00000307465.9	protein_coding	2/13			chr4	TogoVar
CDKL2_chr4_75571496_75635528	75629938	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01891.hp2 HG01993.hp2 others(35): Show HG01256.hp2 HG01891.hp2 HG01993.hp2 HG02258.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02698.hp1 HG02738.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG03041.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03540.hp1 HG03710.hp1 HG03831.hp2 NA18522.hp1 NA18940.hp2 NA18941.hp2 NA18967.hp1 NA18972.hp2 NA18975.hp1 NA18998.hp2 NA19000.hp1 NA19009.hp1 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0025	a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0158 others(35): Show a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0164 a0001c0001t0003g0166 a0001c0001t0005g0172 a0001c0001t0006g0165 a0001c0001t0006g0167 a0001c0001t0006g0168 a0001c0001t0006g0169 a0001c0001t0006g0170 a0001c0001t0006g0173 a0001c0001t0006g0174 a0001c0001t0006g0175 a0001c0001t0006g0176 a0001c0001t0006g0177 a0001c0001t0006g0178 a0001c0001t0009g0091 a0001c0001t0010g0142 a0001c0001t0010g0148 a0001c0001t0010g0157 a0001c0001t0014g0154 a0001c0001t0025g0171	38	306	0.1242	-11	c.-30 others(25): Show c.-30+93_-30+103delTTTTTTTTTTT	CDKL2	ENSG00000138769.11	transcript	ENST00000307465.9	protein_coding	1/13			chr4	TogoVar
CDKL3_chr5_134293424_134372171	134327632	GAACCAGG others(4): Show GAACCAGGGAAT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00642.hp1 others(65): Show HG00280.hp1 HG00323.hp2 HG00642.hp1 HG00741.hp1 HG01099.hp2 HG01109.hp1 HG01168.hp2 HG01175.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02055.hp1 HG02074.hp2 HG02083.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02572.hp1 HG02615.hp1 HG02683.hp2 HG02717.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03471.hp1 HG03491.hp2 HG03831.hp1 HG03927.hp1 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp2 NA18947.hp1 NA18951.hp1 NA18955.hp1 NA18965.hp2 NA18980.hp1 NA18984.hp1 NA18993.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19074.hp1 NA19086.hp2 NA19087.hp2 NA19240.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0006 a0001c0001 a0001c0002 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0003c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(63): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0002g0002 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0003c0006t0001g0021	68	210	0.3238	-11	c.540 others(28): Show c.540-5740_540-5730delATTCCCTGGTT	CDKL3	ENSG00000006837.12	transcript	ENST00000265334.9	protein_coding	4/12			chr5	TogoVar
CDKL4_chr2_39170646_39248970	39223594	TTTGAAGA others(4): Show TTTGAAGACTTC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02895.hp1 HG03453.hp2 others(2): Show HG02280.hp1 HG02895.hp1 HG03453.hp2 HG03471.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0001 a0001c0001t0003 a0001c0003t0001	a0001c0001t0003g0029 a0001c0001t0003g0045 a0001c0003t0001g0012 others(2): Show a0001c0001t0003g0029 a0001c0001t0003g0045 a0001c0003t0001g0012 a0001c0003t0001g0014 a0001c0003t0001g0207	5	290	0.0172	-11	c.290 others(28): Show c.290+2234_290+2244delGAAGTCTTCAA	CDKL4	ENSG00000205111.10	transcript	ENST00000451199.7	protein_coding	3/9			chr2	TogoVar
CDKL5_chrX_18420608_18645196	18459698	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0157 a0001c0001t0002g0157	1	192	0.0052	-11	c.-16 others(32): Show c.-163+34018_-163+34028delTTTTTTTTTTT	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	1/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18626712	CTCTCTCT others(4): Show CTCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02165.hp1 NA18959.hp1 others(1): Show HG00544.hp2 HG02165.hp1 NA18959.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0015 a0001c0001t0027 a0001c0001t0004 a0001c0001t0015 a0001c0001t0027	a0001c0001t0004g0176 a0001c0001t0004g0183 a0001c0001t0015g0188 others(1): Show a0001c0001t0004g0176 a0001c0001t0004g0183 a0001c0001t0015g0188 a0001c0001t0027g0167	4	192	0.0208	-11	c.249 others(30): Show c.2496+1466_2496+1476delTCTCTCTCTCT	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	17/17			chrX	TogoVar
CDNF_chr10_14814245_14843037	14825901	AGATCATG others(4): Show AGATCATGCCAG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03225.hp2 HG01884.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0206 a0001c0001t0001g0209	2	418	0.0048	-11	c.244 others(26): Show c.244-292_244-282delCTGGCATGATC	CDNF	ENSG00000185267.10	transcript	ENST00000465530.2	protein_coding	2/3			chr10	TogoVar
CDO1_chr5_115799733_115821659	115804606	AGACTCTG others(4): Show AGACTCTGTCTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG02622.hp2 HG03471.hp1 HG01168.hp2 HG02622.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0010 a0001c0001t0003g0109 a0001c0001t0003g0110	3	372	0.0081	-11	c.81 others(20): Show c.816_*826delGAGACAGAGTC	CDO1	ENSG00000129596.5	transcript	ENST00000250535.5	protein_coding		126		chr5	TogoVar
CDON_chr11_125951821_126067866	126011452	CTGGTCAG others(4): Show CTGGTCAGAACA	C C	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0001 a0002c0014t0001	a0002c0014t0001g0245 a0002c0014t0001g0245	1	334	0.0030	-11	c.119 others(28): Show c.1199-769_1199-759delTGTTCTGACCA	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	7/19			chr11	TogoVar
CDON_chr11_125951821_126067866	126018739	TTAAATTT others(4): Show TTAAATTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0046 a0003c0017t0046	a0003c0017t0046g0034 a0003c0017t0046g0034	1	334	0.0030	-11	c.497 others(26): Show c.497-277_497-267delCAAAAAATTTA	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	4/19			chr11	TogoVar
CDON_chr11_125951821_126067866	126028402	CACCCAGG others(4): Show CACCCAGGCTGG	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0018 a0018	a0018c0036 a0018c0036	a0018c0036t0026 a0018c0036t0026	a0018c0036t0026g0145 a0018c0036t0026g0145	1	334	0.0030	-11	c.-61 others(28): Show c.-61-4876_-61-4866delCCAGCCTGGGT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	1/19			chr11	TogoVar
CDON_chr11_125951821_126067866	126040814	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0005 a0001c0024t0005	a0001c0024t0005g0204 a0001c0024t0005g0204	1	334	0.0030	-11	c.-61 others(30): Show c.-61-17288_-61-17278delTTTTTTTTTTT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	1/19			chr11	TogoVar
CDPF1_chr22_46239013_46255293	46250426	GGATGTGG others(4): Show GGATGTGGCTCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0011 a0002c0002t0002g0011	1	280	0.0036	-11	c.-18 others(20): Show c.-182_-172delAGAGCCACATC	CDPF1	ENSG00000205643.11	transcript	ENST00000314567.8	protein_coding		134		chr22	TogoVar

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