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
CDKAL1_chr6_20529457_21237404	20616839	C C	CCACACAC others(1): Show CCACACACA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01109.hp2 HG01167.hp2 others(14): Show HG00621.hp1 HG01109.hp2 HG01167.hp2 HG02129.hp1 HG02300.hp2 HG02572.hp2 HG03225.hp2 HG03453.hp1 HG03516.hp1 HG03834.hp1 NA18953.hp1 NA18970.hp2 NA18983.hp2 NA18994.hp2 NA20300.hp2 NA20805.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0011 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0002t0003 a0001c0002t0008 a0001c0002t0028 a0001c0004t0001 a0001c0004t0007 a0001c0004t0018 a0001c0006t0009 a0001c0011t0004 a0002c0003t0010	a0001c0001t0001g0126 a0001c0001t0001g0188 a0001c0001t0002g0141 others(14): Show a0001c0001t0001g0126 a0001c0001t0001g0188 a0001c0001t0002g0141 a0001c0002t0002g0047 a0001c0002t0002g0049 a0001c0002t0003g0073 a0001c0002t0003g0114 a0001c0002t0003g0140 a0001c0002t0008g0040 a0001c0002t0028g0103 a0001c0004t0001g0127 a0001c0004t0001g0128 a0001c0004t0007g0015 a0001c0004t0018g0017 a0001c0006t0009g0078 a0001c0011t0004g0130 a0002c0003t0010g0134	17	196	0.0867	8	c.287 others(27): Show c.287-32418_287-32411dupACACACAC	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20672236	C C	CTCTTTCT others(1): Show CTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18950.hp2 NA18954.hp1 others(3): Show HG00609.hp2 NA18950.hp2 NA18954.hp1 NA18978.hp1 NA19007.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0019 a0001c0001t0027 a0001c0001t0035 others(2): Show a0001c0001t0019 a0001c0001t0027 a0001c0001t0035 a0001c0002t0012 a0001c0002t0045	a0001c0001t0019g0145 a0001c0001t0019g0147 a0001c0001t0027g0180 others(3): Show a0001c0001t0019g0145 a0001c0001t0019g0147 a0001c0001t0027g0180 a0001c0001t0035g0160 a0001c0002t0012g0151 a0001c0002t0045g0153	6	196	0.0306	8	c.371 others(27): Show c.371+22881_371+22888dupCTTTCTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20694192	A A	ACAAACAA others(1): Show ACAAACAAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01109.hp1 HG01192.hp1 others(7): Show HG00140.hp2 HG01109.hp1 HG01192.hp1 HG01256.hp1 HG01258.hp2 HG01358.hp1 HG02258.hp2 HG03195.hp1 HG06807.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0009 a0001c0002t0003 others(6): Show a0001c0001t0001 a0001c0001t0009 a0001c0002t0003 a0001c0005t0006 a0001c0005t0014 a0001c0005t0016 a0001c0005t0050 a0001c0006t0006 a0001c0006t0039	a0001c0001t0001g0094 a0001c0001t0009g0087 a0001c0001t0009g0089 others(7): Show a0001c0001t0001g0094 a0001c0001t0009g0087 a0001c0001t0009g0089 a0001c0002t0003g0150 a0001c0005t0006g0085 a0001c0005t0014g0093 a0001c0005t0016g0086 a0001c0005t0050g0088 a0001c0006t0006g0092 a0001c0006t0039g0091	10	196	0.0510	8	c.371 others(27): Show c.371+44823_371+44830dupGCAAACAA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20702589	G G	GGCTGGCC others(1): Show GGCTGGCCT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01496.hp2 HG02280.hp1 others(4): Show HG01361.hp1 HG01496.hp2 HG02280.hp1 HG03486.hp2 HG04204.hp1 NA18906.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0002c0003t0002	a0001c0001t0001g0096 a0001c0001t0001g0192 a0001c0001t0004g0031 others(4): Show a0001c0001t0001g0096 a0001c0001t0001g0192 a0001c0001t0004g0031 a0001c0001t0004g0097 a0001c0001t0005g0189 a0001c0001t0006g0011 a0002c0003t0002g0013	7	196	0.0357	8	c.372 others(27): Show c.372-36916_372-36909dupCCTGCTGG	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20753957	A A	ATGTGTGT others(1): Show ATGTGTGTG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02300.hp2 HG02280.hp2 HG02300.hp2	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0004 a0001c0006t0009 a0001c0004t0004 a0001c0006t0009	a0001c0004t0004g0133 a0001c0006t0009g0078 a0001c0004t0004g0133 a0001c0006t0009g0078	2	196	0.0102	8	c.469 others(25): Show c.469-4612_469-4605dupGTGTGTGT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20756804	T T	TTTCCTTC others(1): Show TTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01934.hp2 HG02622.hp1 others(5): Show HG00639.hp1 HG01934.hp2 HG02622.hp1 HG03195.hp2 HG04204.hp1 NA19043.hp2 NA20300.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0003 a0001c0001t0008 a0001c0001t0012 others(4): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0012 a0001c0002t0005 a0001c0002t0041 a0001c0004t0001 a0002c0003t0002	a0001c0001t0003g0082 a0001c0001t0008g0016 a0001c0001t0012g0163 others(5): Show a0001c0001t0003g0082 a0001c0001t0008g0016 a0001c0001t0012g0163 a0001c0002t0005g0064 a0001c0002t0041g0012 a0001c0004t0001g0127 a0001c0004t0001g0128 a0002c0003t0002g0013	8	196	0.0408	8	c.469 others(25): Show c.469-1764_469-1757dupCCTTCCTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20756854	C C	CCCTTCCT others(1): Show CCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03704.hp1 NA18966.hp1 HG00639.hp1 HG03704.hp1 NA18966.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0007 a0001c0001t0012 a0002c0003t0005 a0001c0001t0007 a0001c0001t0012 a0002c0003t0005	a0001c0001t0007g0164 a0001c0001t0012g0163 a0002c0003t0005g0053 a0001c0001t0007g0164 a0001c0001t0012g0163 a0002c0003t0005g0053	3	196	0.0153	8	c.469 others(25): Show c.469-1678_469-1671dupTTCCTTCC	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20784412	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02109.hp1 HG02273.hp2 others(10): Show HG01361.hp2 HG02109.hp1 HG02273.hp2 HG02300.hp2 HG02630.hp1 HG03041.hp1 HG03486.hp2 HG03834.hp2 NA18953.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0014 a0001c0001t0015 a0001c0002t0002 a0001c0002t0016 a0001c0006t0009 a0002c0003t0002 a0002c0003t0005 a0002c0007t0030	a0001c0001t0001g0007 a0001c0001t0001g0192 a0001c0001t0002g0124 others(10): Show a0001c0001t0001g0007 a0001c0001t0001g0192 a0001c0001t0002g0124 a0001c0001t0003g0113 a0001c0001t0007g0043 a0001c0001t0014g0072 a0001c0001t0015g0186 a0001c0002t0002g0047 a0001c0002t0016g0045 a0001c0006t0009g0078 a0002c0003t0002g0057 a0002c0003t0005g0036 a0002c0007t0030g0025	13	196	0.0663	8	c.638 others(25): Show c.638+3169_638+3176dupTTTTTTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20799040	G G	GTTTTTTT others(1): Show GTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG01192.hp1 others(7): Show HG00099.hp1 HG00099.hp2 HG01192.hp1 HG01256.hp2 HG01496.hp2 HG02818.hp2 HG03139.hp2 NA18990.hp1 NA19005.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0023 a0001c0001t0026 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0004t0004 a0001c0005t0006	a0001c0001t0002g0139 a0001c0001t0003g0156 a0001c0001t0005g0189 others(7): Show a0001c0001t0002g0139 a0001c0001t0003g0156 a0001c0001t0005g0189 a0001c0001t0023g0115 a0001c0001t0026g0001 a0001c0002t0001g0174 a0001c0002t0003g0010 a0001c0002t0006g0110 a0001c0004t0004g0102 a0001c0005t0006g0085	10	196	0.0510	8	c.638 others(27): Show c.638+17797_638+17804dupTTTTTTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20810367	G G	GTCTCTCT others(1): Show GTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19082.hp1 NA19007.hp1 NA19082.hp1	a0002 a0002	a0002c0003 a0002c0007 a0002c0003 a0002c0007	a0002c0003t0005 a0002c0007t0002 a0002c0003t0005 a0002c0007t0002	a0002c0003t0005g0081 a0002c0007t0002g0048 a0002c0003t0005g0081 a0002c0007t0002g0048	2	196	0.0102	8	c.638 others(27): Show c.638+29118_638+29125dupCTCTCTCT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20837937	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01358.hp2 HG02027.hp2 others(11): Show HG00609.hp1 HG01358.hp2 HG02027.hp2 HG02056.hp2 HG02257.hp1 HG02630.hp1 HG03453.hp2 HG03490.hp1 HG03834.hp1 HG04204.hp2 HG04228.hp2 NA18970.hp2 NA19002.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0001c0001t0046 a0001c0002t0001 a0001c0002t0003 a0001c0002t0008 a0001c0006t0003 a0001c0010t0002	a0001c0001t0001g0003 a0001c0001t0001g0070 a0001c0001t0002g0124 others(11): Show a0001c0001t0001g0003 a0001c0001t0001g0070 a0001c0001t0002g0124 a0001c0001t0003g0162 a0001c0001t0008g0054 a0001c0001t0009g0138 a0001c0001t0015g0186 a0001c0001t0046g0077 a0001c0002t0001g0108 a0001c0002t0003g0140 a0001c0002t0003g0184 a0001c0002t0008g0040 a0001c0006t0003g0030 a0001c0010t0002g0106	14	196	0.0714	8	c.639 others(25): Show c.639-8100_639-8093dupGTGTGTGT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20913116	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG03017.hp1 HG03225.hp2 others(1): Show HG01934.hp1 HG03017.hp1 HG03225.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 others(1): Show a0001c0001 a0001c0004 a0001c0006 a0001c0009	a0001c0001t0024 a0001c0004t0007 a0001c0006t0002 others(1): Show a0001c0001t0024 a0001c0004t0007 a0001c0006t0002 a0001c0009t0004	a0001c0001t0024g0158 a0001c0004t0007g0015 a0001c0006t0002g0166 others(1): Show a0001c0001t0024g0158 a0001c0004t0007g0015 a0001c0006t0002g0166 a0001c0009t0004g0019	4	196	0.0204	8	c.743 others(27): Show c.743-42267_743-42260dupCACACACA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20913158	C C	CACACACA others(1): Show CACACACAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01934.hp2 NA20300.hp2 others(1): Show HG01106.hp1 HG01934.hp2 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0005 a0001c0002t0009 a0001c0004t0001 a0001c0002t0005 a0001c0002t0009 a0001c0004t0001	a0001c0002t0005g0064 a0001c0002t0009g0183 a0001c0004t0001g0127 others(1): Show a0001c0002t0005g0064 a0001c0002t0009g0183 a0001c0004t0001g0127 a0001c0004t0001g0128	4	196	0.0204	8	c.743 others(27): Show c.743-42260_743-42259insCACACATA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20945071	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01243.hp2 HG02615.hp2 others(8): Show HG01167.hp2 HG01243.hp2 HG02615.hp2 HG02647.hp1 HG02723.hp2 HG02965.hp2 HG03041.hp1 HG03471.hp1 HG03540.hp2 NA18906.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0001c0009 a0002c0007	a0001c0001t0018 a0001c0001t0025 a0001c0002t0028 others(5): Show a0001c0001t0018 a0001c0001t0025 a0001c0002t0028 a0001c0004t0004 a0001c0008t0011 a0001c0009t0004 a0002c0007t0030 a0002c0007t0036	a0001c0001t0018g0005 a0001c0001t0025g0021 a0001c0002t0028g0103 others(8): Show a0001c0001t0018g0005 a0001c0001t0025g0021 a0001c0002t0028g0103 a0001c0004t0004g0102 a0001c0008t0011g0068 a0001c0008t0011g0069 a0001c0009t0004g0019 a0001c0009t0004g0027 a0001c0009t0004g0028 a0002c0007t0030g0025 a0002c0007t0036g0024	11	196	0.0561	8	c.743 others(27): Show c.743-10330_743-10323dupCACACACA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20947509	T T	TGAGTCCA others(1): Show TGAGTCCAG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01516.hp2 HG02129.hp1 HG01106.hp2 HG01516.hp2 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0002t0020 a0001c0001t0003 a0001c0002t0002 a0001c0002t0020	a0001c0001t0003g0149 a0001c0002t0002g0049 a0001c0002t0020g0116 a0001c0001t0003g0149 a0001c0002t0002g0049 a0001c0002t0020g0116	3	196	0.0153	8	c.743 others(25): Show c.743-7906_743-7899dupTCCAGGAG	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20982048	C C	CTTATTTA others(1): Show CTTATTTAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00544.hp2 others(37): Show HG00099.hp1 HG00140.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00673.hp1 HG01192.hp1 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01943.hp2 HG01978.hp1 HG02056.hp1 HG02056.hp2 HG02129.hp2 HG02145.hp1 HG02273.hp1 HG02280.hp1 HG02559.hp1 HG02723.hp1 HG02818.hp2 HG03017.hp2 HG03225.hp1 HG03490.hp2 HG03704.hp1 HG03831.hp2 HG04184.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18953.hp1 NA18983.hp2 NA18994.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19010.hp1 NA19043.hp2 NA20300.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0001c0010 a0001c0012 a0002c0003 a0005c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0046 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0002t0016 a0001c0002t0044 a0001c0005t0006 a0001c0008t0011 a0001c0010t0002 a0001c0010t0007 a0001c0012t0008 a0002c0003t0002 a0002c0003t0003 a0002c0003t0005 a0002c0003t0020 a0005c0014t0008	a0001c0001t0001g0065 a0001c0001t0001g0096 a0001c0001t0001g0126 others(37): Show a0001c0001t0001g0065 a0001c0001t0001g0096 a0001c0001t0001g0126 a0001c0001t0001g0136 a0001c0001t0002g0124 a0001c0001t0002g0168 a0001c0001t0003g0082 a0001c0001t0003g0113 a0001c0001t0003g0156 a0001c0001t0004g0002 a0001c0001t0004g0031 a0001c0001t0009g0138 a0001c0001t0010g0035 a0001c0001t0010g0109 a0001c0001t0023g0169 a0001c0001t0024g0152 a0001c0001t0026g0001 a0001c0001t0046g0077 a0001c0002t0001g0148 a0001c0002t0002g0041 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0003g0073 a0001c0002t0003g0114 a0001c0002t0007g0154 a0001c0002t0007g0187 a0001c0002t0016g0045 a0001c0002t0044g0038 a0001c0005t0006g0085 a0001c0008t0011g0181 a0001c0010t0002g0106 a0001c0010t0007g0044 a0001c0012t0008g0129 a0002c0003t0002g0013 a0002c0003t0002g0056 a0002c0003t0003g0107 a0002c0003t0005g0053 a0002c0003t0005g0081 a0002c0003t0020g0075 a0005c0014t0008g0119	40	196	0.2041	8	c.910 others(27): Show c.910-18150_910-18143dupTTATTTAT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20988182	A A	ATGTGTGT others(1): Show ATGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00323.hp2 others(34): Show HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00609.hp1 HG00639.hp1 HG00642.hp2 HG01106.hp1 HG01167.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01358.hp2 HG01516.hp1 HG01891.hp1 HG01943.hp1 HG01978.hp1 HG02109.hp2 HG02257.hp1 HG02273.hp1 HG02300.hp1 HG02615.hp2 HG02647.hp1 HG03491.hp1 HG03491.hp2 HG03540.hp2 HG03834.hp1 HG04184.hp2 NA18953.hp2 NA18957.hp2 NA18966.hp1 NA19002.hp1 NA19002.hp2 NA19043.hp1 NA19085.hp1 NA20300.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0008 a0001c0009 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0016 a0001c0001t0024 a0001c0001t0046 a0001c0001t0048 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0002t0016 a0001c0002t0028 a0001c0002t0049 a0001c0005t0004 a0001c0006t0003 a0001c0006t0006 a0001c0008t0011 a0001c0009t0004 a0001c0010t0017	a0001c0001t0001g0070 a0001c0001t0001g0176 a0001c0001t0002g0124 others(34): Show a0001c0001t0001g0070 a0001c0001t0001g0176 a0001c0001t0002g0124 a0001c0001t0002g0141 a0001c0001t0002g0172 a0001c0001t0003g0162 a0001c0001t0005g0137 a0001c0001t0007g0164 a0001c0001t0008g0159 a0001c0001t0010g0051 a0001c0001t0012g0163 a0001c0001t0016g0178 a0001c0001t0024g0152 a0001c0001t0046g0077 a0001c0001t0048g0143 a0001c0002t0002g0041 a0001c0002t0002g0195 a0001c0002t0003g0010 a0001c0002t0003g0055 a0001c0002t0003g0140 a0001c0002t0003g0170 a0001c0002t0003g0184 a0001c0002t0006g0050 a0001c0002t0006g0052 a0001c0002t0006g0110 a0001c0002t0007g0154 a0001c0002t0009g0183 a0001c0002t0016g0045 a0001c0002t0028g0117 a0001c0002t0049g0059 a0001c0005t0004g0033 a0001c0006t0003g0029 a0001c0006t0006g0111 a0001c0008t0011g0068 a0001c0008t0011g0069 a0001c0009t0004g0028 a0001c0010t0017g0194	37	196	0.1888	8	c.910 others(27): Show c.910-12015_910-12008dupGTGTGTGT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21003371	T T	TATATATA others(1): Show TATATATAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03516.hp1 HG02922.hp2 HG03516.hp1	a0001 a0001	a0001c0008 a0001c0011 a0001c0008 a0001c0011	a0001c0008t0004 a0001c0011t0004 a0001c0008t0004 a0001c0011t0004	a0001c0008t0004g0105 a0001c0011t0004g0130 a0001c0008t0004g0105 a0001c0011t0004g0130	2	196	0.0102	8	c.105 others(27): Show c.1055+3000_1055+3001insTATATACA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21016612	T T	TCATCCAT others(1): Show TCATCCATC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01255.hp2 HG01978.hp1 others(13): Show HG01243.hp1 HG01255.hp2 HG01978.hp1 HG02056.hp1 HG02258.hp1 HG02273.hp1 HG02723.hp2 HG02897.hp2 HG03041.hp1 HG03139.hp2 HG03195.hp2 HG03486.hp2 HG03540.hp1 HG06807.hp1 NA18994.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0011 a0001c0012 a0002c0007	a0001c0001t0001 a0001c0001t0008 a0001c0001t0016 others(13): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0016 a0001c0001t0017 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0002t0043 a0001c0005t0021 a0001c0011t0004 a0001c0012t0008 a0002c0007t0030 a0002c0007t0036	a0001c0001t0001g0192 a0001c0001t0008g0016 a0001c0001t0016g0178 others(13): Show a0001c0001t0001g0192 a0001c0001t0008g0016 a0001c0001t0016g0178 a0001c0001t0017g0112 a0001c0001t0023g0115 a0001c0001t0024g0152 a0001c0001t0026g0058 a0001c0002t0002g0046 a0001c0002t0003g0114 a0001c0002t0007g0154 a0001c0002t0043g0190 a0001c0005t0021g0026 a0001c0011t0004g0100 a0001c0012t0008g0129 a0002c0007t0030g0025 a0002c0007t0036g0024	16	196	0.0816	8	c.105 others(29): Show c.1055+16293_1055+16300dupCATCCATC	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21060090	A A	AAATAGTT others(1): Show AAATAGTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG01109.hp1 others(44): Show HG00323.hp1 HG00544.hp1 HG01109.hp1 HG01192.hp1 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01515.hp1 HG01891.hp1 HG02109.hp1 HG02258.hp1 HG02258.hp2 HG02300.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp2 HG02818.hp1 HG03017.hp1 HG03041.hp1 HG03130.hp1 HG03195.hp1 HG03471.hp1 HG03490.hp1 HG03540.hp2 HG03579.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18906.hp1 NA18948.hp2 NA18950.hp1 NA18953.hp1 NA18956.hp1 NA18966.hp2 NA18992.hp1 NA19007.hp1 NA19082.hp1 NA19091.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0009 a0001c0013 a0002c0003 a0002c0007	a0001c0001t0001 a0001c0002t0002 a0001c0002t0034 others(28): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0034 a0001c0005t0001 a0001c0005t0004 a0001c0005t0006 a0001c0005t0007 a0001c0005t0014 a0001c0005t0016 a0001c0005t0021 a0001c0005t0050 a0001c0006t0002 a0001c0006t0003 a0001c0006t0006 a0001c0006t0009 a0001c0006t0039 a0001c0009t0004 a0001c0013t0004 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 a0002c0003t0010 a0002c0003t0013 a0002c0003t0020 a0002c0007t0002 a0002c0007t0005 a0002c0007t0029 a0002c0007t0030 a0002c0007t0036 a0002c0007t0038	a0001c0001t0001g0007 a0001c0001t0001g0094 a0001c0002t0002g0047 others(44): Show a0001c0001t0001g0007 a0001c0001t0001g0094 a0001c0002t0002g0047 a0001c0002t0034g0182 a0001c0005t0001g0009 a0001c0005t0004g0033 a0001c0005t0006g0085 a0001c0005t0007g0084 a0001c0005t0014g0093 a0001c0005t0016g0086 a0001c0005t0021g0026 a0001c0005t0050g0088 a0001c0006t0002g0166 a0001c0006t0003g0029 a0001c0006t0003g0030 a0001c0006t0006g0023 a0001c0006t0006g0092 a0001c0006t0006g0111 a0001c0006t0009g0078 a0001c0006t0039g0091 a0001c0009t0004g0019 a0001c0009t0004g0027 a0001c0009t0004g0028 a0001c0013t0004g0006 a0002c0003t0002g0013 a0002c0003t0002g0056 a0002c0003t0002g0057 a0002c0003t0002g0079 a0002c0003t0002g0144 a0002c0003t0002g0157 a0002c0003t0003g0107 a0002c0003t0004g0132 a0002c0003t0005g0036 a0002c0003t0005g0053 a0002c0003t0005g0080 a0002c0003t0005g0081 a0002c0003t0005g0121 a0002c0003t0010g0134 a0002c0003t0013g0037 a0002c0003t0020g0075 a0002c0007t0002g0048 a0002c0007t0005g0061 a0002c0007t0005g0062 a0002c0007t0029g0014 a0002c0007t0030g0025 a0002c0007t0036g0024 a0002c0007t0038g0173	47	196	0.2398	8	c.105 others(27): Show c.1056-4957_1056-4950dupAATAGTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21079976	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG06807.hp1 HG02257.hp2 HG06807.hp1	a0001 a0001	a0001c0004 a0001c0012 a0001c0004 a0001c0012	a0001c0004t0001 a0001c0012t0008 a0001c0004t0001 a0001c0012t0008	a0001c0004t0001g0099 a0001c0012t0008g0129 a0001c0004t0001g0099 a0001c0012t0008g0129	2	196	0.0102	8	c.123 others(29): Show c.1236+14774_1236+14781dupGTGTGTGT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21214874	G G	GATGAATG others(1): Show GATGAATGA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG01167.hp1 others(19): Show HG00323.hp1 HG00323.hp2 HG01167.hp1 HG01255.hp2 HG01496.hp1 HG02258.hp1 HG02630.hp2 HG02723.hp1 HG02922.hp1 HG03139.hp2 HG03225.hp2 HG03490.hp1 HG03491.hp1 HG03516.hp2 HG04184.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18978.hp2 NA19002.hp1 NA19043.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0011	a0001c0001t0003 a0001c0001t0016 a0001c0001t0023 others(16): Show a0001c0001t0003 a0001c0001t0016 a0001c0001t0023 a0001c0001t0031 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0007 a0001c0002t0011 a0001c0002t0012 a0001c0002t0013 a0001c0002t0016 a0001c0002t0049 a0001c0004t0007 a0001c0005t0007 a0001c0005t0021 a0001c0006t0003 a0001c0006t0006 a0001c0011t0004	a0001c0001t0003g0082 a0001c0001t0016g0178 a0001c0001t0023g0115 others(19): Show a0001c0001t0003g0082 a0001c0001t0016g0178 a0001c0001t0023g0115 a0001c0001t0031g0004 a0001c0002t0002g0047 a0001c0002t0002g0090 a0001c0002t0003g0055 a0001c0002t0003g0066 a0001c0002t0003g0170 a0001c0002t0006g0052 a0001c0002t0007g0187 a0001c0002t0011g0131 a0001c0002t0012g0151 a0001c0002t0013g0122 a0001c0002t0016g0045 a0001c0002t0049g0059 a0001c0004t0007g0015 a0001c0005t0007g0084 a0001c0005t0021g0026 a0001c0006t0003g0030 a0001c0006t0006g0111 a0001c0011t0004g0100	22	196	0.1122	8	c.154 others(29): Show c.1548+13631_1548+13638dupGAATGAAT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21214874	G G	GATGGATG others(1): Show GATGGATGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp1 HG02109.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0136 a0001c0001t0001g0007 a0001c0001t0001g0136	2	196	0.0102	8	c.154 others(29): Show c.1548+13603_1548+13604insGATGAATG	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKL1_chr14_50321265_50401881	50360786	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp1 HG03209.hp1 others(1): Show HG01884.hp1 HG02258.hp1 HG03209.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0115 a0001c0001t0116 others(1): Show a0001c0001t0034 a0001c0001t0115 a0001c0001t0116 a0001c0001t0140	a0001c0001t0034g0198 a0001c0001t0115g0223 a0001c0001t0116g0219 others(1): Show a0001c0001t0034g0198 a0001c0001t0115g0223 a0001c0001t0116g0219 a0001c0001t0140g0299	4	306	0.0131	8	c.169 others(25): Show c.169-1645_169-1638dupCACACACA	CDKL1	ENSG00000100490.10	transcript	ENST00000395834.6	protein_coding	2/9			chr14	TogoVar
CDKL1_chr14_50321265_50401881	50387026	C C	CAAAAAGA others(1): Show CAAAAAGAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00408.hp1 others(174): Show HG00099.hp1 HG00140.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01175.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02055.hp2 HG02074.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04184.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18944.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp2 NA19081.hp2 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0007	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0007c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(76): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0024 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0043 a0001c0001t0044 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0070 a0001c0001t0073 a0001c0001t0074 a0001c0001t0076 a0001c0001t0077 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0090 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0106 a0001c0001t0108 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0115 a0001c0001t0116 a0001c0001t0117 a0001c0001t0118 a0001c0001t0119 a0001c0001t0120 a0001c0001t0140 a0001c0001t0144 a0002c0002t0005 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009 a0002c0002t0010 a0002c0002t0027 a0002c0002t0028 a0002c0002t0029 a0002c0002t0033 a0002c0002t0045 a0002c0002t0088 a0002c0002t0089 a0002c0002t0091 a0002c0002t0092 a0002c0002t0093 a0002c0002t0095 a0002c0002t0100 a0002c0002t0101 a0002c0002t0105 a0002c0002t0107 a0002c0002t0122 a0002c0002t0123 a0002c0002t0126 a0002c0002t0139 a0003c0003t0127 a0004c0004t0020 a0005c0005t0137 a0005c0005t0138 a0007c0007t0145	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(172): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0002g0182 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0191 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0200 a0001c0001t0002g0202 a0001c0001t0002g0204 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0215 a0001c0001t0002g0217 a0001c0001t0002g0220 a0001c0001t0004g0115 a0001c0001t0006g0239 a0001c0001t0012g0057 a0001c0001t0012g0060 a0001c0001t0012g0065 a0001c0001t0012g0071 a0001c0001t0017g0166 a0001c0001t0017g0167 a0001c0001t0017g0168 a0001c0001t0018g0008 a0001c0001t0018g0011 a0001c0001t0019g0190 a0001c0001t0019g0193 a0001c0001t0019g0199 a0001c0001t0024g0100 a0001c0001t0024g0101 a0001c0001t0031g0091 a0001c0001t0031g0093 a0001c0001t0032g0094 a0001c0001t0032g0095 a0001c0001t0034g0198 a0001c0001t0034g0218 a0001c0001t0035g0227 a0001c0001t0035g0228 a0001c0001t0036g0229 a0001c0001t0036g0230 a0001c0001t0037g0232 a0001c0001t0037g0233 a0001c0001t0043g0293 a0001c0001t0044g0259 a0001c0001t0044g0260 a0001c0001t0046g0103 a0001c0001t0047g0106 a0001c0001t0048g0105 a0001c0001t0049g0104 a0001c0001t0070g0124 a0001c0001t0073g0154 a0001c0001t0074g0153 a0001c0001t0076g0155 a0001c0001t0077g0156 a0001c0001t0085g0006 a0001c0001t0086g0172 a0001c0001t0087g0165 a0001c0001t0090g0171 a0001c0001t0096g0028 a0001c0001t0097g0059 a0001c0001t0098g0066 a0001c0001t0099g0031 a0001c0001t0102g0173 a0001c0001t0103g0174 a0001c0001t0104g0175 a0001c0001t0106g0092 a0001c0001t0108g0097 a0001c0001t0112g0178 a0001c0001t0113g0206 a0001c0001t0114g0196 a0001c0001t0115g0223 a0001c0001t0116g0219 a0001c0001t0117g0207 a0001c0001t0118g0201 a0001c0001t0119g0180 a0001c0001t0120g0192 a0001c0001t0140g0299 a0001c0001t0144g0303 a0002c0002t0005g0023 a0002c0002t0005g0025 a0002c0002t0005g0039 a0002c0002t0005g0048 a0002c0002t0005g0049 a0002c0002t0005g0051 a0002c0002t0005g0063 a0002c0002t0005g0064 a0002c0002t0005g0079 a0002c0002t0005g0087 a0002c0002t0007g0069 a0002c0002t0007g0072 a0002c0002t0007g0074 a0002c0002t0007g0075 a0002c0002t0007g0086 a0002c0002t0008g0002 a0002c0002t0008g0053 a0002c0002t0008g0081 a0002c0002t0009g0015 a0002c0002t0009g0038 a0002c0002t0009g0040 a0002c0002t0009g0050 a0002c0002t0009g0055 a0002c0002t0010g0183 a0002c0002t0010g0186 a0002c0002t0010g0187 a0002c0002t0010g0188 a0002c0002t0010g0189 a0002c0002t0027g0007 a0002c0002t0027g0010 a0002c0002t0028g0068 a0002c0002t0028g0076 a0002c0002t0029g0018 a0002c0002t0033g0203 a0002c0002t0033g0205 a0002c0002t0045g0102 a0002c0002t0088g0170 a0002c0002t0089g0169 a0002c0002t0091g0073 a0002c0002t0092g0084 a0002c0002t0093g0080 a0002c0002t0095g0047 a0002c0002t0100g0070 a0002c0002t0101g0024 a0002c0002t0105g0090 a0002c0002t0107g0096 a0002c0002t0122g0181 a0002c0002t0123g0213 a0002c0002t0126g0226 a0002c0002t0139g0258 a0003c0003t0127g0225 a0004c0004t0020g0221 a0004c0004t0020g0222 a0004c0004t0020g0224 a0005c0005t0137g0256 a0005c0005t0138g0257 a0007c0007t0145g0304	177	306	0.5784	8	c.168 others(25): Show c.168+8667_168+8674dupTTCTTTTT	CDKL1	ENSG00000100490.10	transcript	ENST00000395834.6	protein_coding	2/9			chr14	TogoVar
CDKL1_chr14_50321265_50401881	50387037	A A	AAAGAAAA others(1): Show AAAGAAAAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00738.hp1 others(20): Show HG00280.hp1 HG00408.hp2 HG00738.hp1 HG01515.hp1 HG01517.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02280.hp1 HG02523.hp1 HG02523.hp2 HG02630.hp1 HG03139.hp2 HG03195.hp2 HG03704.hp1 HG03704.hp2 HG06807.hp1 NA18522.hp2 NA18944.hp2 NA18951.hp1 NA18960.hp2 NA18981.hp1 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0008 a0001c0001 a0002c0002 a0002c0008	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(13): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0014 a0001c0001t0026 a0001c0001t0050 a0001c0001t0051 a0001c0001t0054 a0001c0001t0055 a0001c0001t0060 a0001c0001t0094 a0001c0001t0128 a0002c0002t0025 a0002c0002t0053 a0002c0002t0056 a0002c0008t0071	a0001c0001t0002g0216 a0001c0001t0004g0253 a0001c0001t0004g0254 others(20): Show a0001c0001t0002g0216 a0001c0001t0004g0253 a0001c0001t0004g0254 a0001c0001t0006g0238 a0001c0001t0006g0243 a0001c0001t0006g0245 a0001c0001t0006g0249 a0001c0001t0006g0252 a0001c0001t0014g0247 a0001c0001t0026g0242 a0001c0001t0026g0248 a0001c0001t0050g0107 a0001c0001t0051g0235 a0001c0001t0054g0246 a0001c0001t0055g0241 a0001c0001t0060g0244 a0001c0001t0094g0062 a0001c0001t0128g0255 a0002c0002t0025g0237 a0002c0002t0025g0250 a0002c0002t0053g0236 a0002c0002t0056g0251 a0002c0008t0071g0113	23	306	0.0752	8	c.168 others(25): Show c.168+8663_168+8664insCTTTTCTT	CDKL1	ENSG00000100490.10	transcript	ENST00000395834.6	protein_coding	2/9			chr14	TogoVar
CDKL2_chr4_75571496_75635528	75595976	A A	AGAAGGAA others(1): Show AGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01346.hp1 HG01952.hp2 others(10): Show HG01106.hp2 HG01346.hp1 HG01952.hp2 HG02258.hp2 HG02818.hp2 HG03098.hp2 HG03490.hp2 HG04184.hp1 NA18970.hp2 NA18999.hp1 NA19010.hp2 NA19081.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 others(1): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 a0001c0001t0025	a0001c0001t0005g0267 a0001c0001t0005g0274 a0001c0001t0005g0275 others(10): Show a0001c0001t0005g0267 a0001c0001t0005g0274 a0001c0001t0005g0275 a0001c0001t0005g0277 a0001c0001t0005g0278 a0001c0001t0005g0279 a0001c0001t0005g0281 a0001c0001t0005g0286 a0001c0001t0005g0287 a0001c0001t0005g0290 a0001c0001t0006g0165 a0001c0001t0013g0085 a0001c0001t0025g0171	13	306	0.0425	8	c.141 others(25): Show c.1416+263_1416+270dupCTTCCTTC	CDKL2	ENSG00000138769.11	transcript	ENST00000307465.9	protein_coding	10/13			chr4	TogoVar
CDKL2_chr4_75571496_75635528	75605356	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02922.hp2 NA19240.hp2 HG01891.hp1 HG02922.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0012 a0001c0001t0012g0013 a0001c0001t0012g0014 a0001c0001t0012g0012 a0001c0001t0012g0013 a0001c0001t0012g0014	3	306	0.0098	8	c.655 others(23): Show c.655+158_655+165dupGTGTGTGT	CDKL2	ENSG00000138769.11	transcript	ENST00000307465.9	protein_coding	5/13			chr4	TogoVar
CDKL2_chr4_75571496_75635528	75613124	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02602.hp2 HG02738.hp1 others(8): Show HG00609.hp1 HG02602.hp2 HG02738.hp1 HG03831.hp1 NA18940.hp2 NA18953.hp2 NA18957.hp2 NA18962.hp2 NA18966.hp2 NA18972.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010	a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0002g0118 others(8): Show a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0140 a0001c0001t0002g0155 a0001c0001t0002g0164 a0001c0001t0002g0223 a0001c0001t0004g0064 a0001c0001t0010g0157	11	306	0.0360	8	c.363 others(25): Show c.363+1123_363+1130dupTTTTTTTT	CDKL2	ENSG00000138769.11	transcript	ENST00000307465.9	protein_coding	3/13			chr4	TogoVar
CDKL3_chr5_134293424_134372171	134296782	T T	TACACACA others(1): Show TACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01175.hp1 HG01515.hp2 others(22): Show HG00741.hp1 HG01175.hp1 HG01515.hp2 HG01952.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02055.hp1 HG02300.hp1 HG02683.hp2 HG02717.hp1 HG03471.hp1 HG03831.hp1 HG03927.hp1 NA18906.hp2 NA18947.hp1 NA18965.hp2 NA18984.hp1 NA19043.hp2 NA19087.hp2 NA19240.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 others(22): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0002g0073	25	210	0.1191	8	c.18 others(19): Show c.1861_*1868dupGTGTGTGT	CDKL3	ENSG00000006837.12	transcript	ENST00000265334.9	protein_coding		1641		chr5	TogoVar
CDKL3_chr5_134293424_134372171	134326829	A A	ATGTGTGT others(1): Show ATGTGTGTG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02622.hp2 HG03669.hp2 others(1): Show HG02602.hp2 HG02622.hp2 HG03669.hp2 NA18971.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0001c0001t0001 a0004c0005t0001	a0001c0001t0001g0071 a0001c0001t0001g0112 a0001c0001t0001g0161 others(1): Show a0001c0001t0001g0071 a0001c0001t0001g0112 a0001c0001t0001g0161 a0004c0005t0001g0126	4	210	0.0191	8	c.540 others(25): Show c.540-4927_540-4926insCACACACA	CDKL3	ENSG00000006837.12	transcript	ENST00000265334.9	protein_coding	4/12			chr5	TogoVar
CDKL4_chr2_39170646_39248970	39185159	C C	CATACGTG others(1): Show CATACGTGT	intron_variant intron_variant	MODIFIER	HG01433.hp2 NA18945.hp1 NA18952.hp2 others(4): Show HG01433.hp2 NA18945.hp1 NA18952.hp2 NA18965.hp1 NA18981.hp1 NA19070.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0005g0025 others(4): Show a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0030 a0001c0001t0005g0031 a0001c0001t0005g0032	7	290	0.0241	8	c.736 others(23): Show c.736-513_736-512insACACGTAT	CDKL4	ENSG00000205111.10	transcript	ENST00000451199.7	protein_coding	7/9			chr2	TogoVar
CDKL4_chr2_39170646_39248970	39185335	T T	TATATATA others(1): Show TATATATAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG02145.hp1 HG01884.hp1 HG02109.hp2 HG02145.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0020 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0020 a0002c0002t0001g0055 a0002c0002t0001g0056	3	290	0.0103	8	c.736 others(23): Show c.736-689_736-688insGTATATAT	CDKL4	ENSG00000205111.10	transcript	ENST00000451199.7	protein_coding	7/9			chr2	TogoVar
CDKL4_chr2_39170646_39248970	39208195	C C	CATACAGC others(1): Show CATACAGCA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02109.hp1 HG02717.hp2 others(5): Show HG01496.hp2 HG02109.hp1 HG02717.hp2 HG03225.hp1 HG03540.hp2 HG06807.hp1 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 others(5): Show a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0052 a0001c0001t0001g0053	8	290	0.0276	8	c.364 others(25): Show c.364-3586_364-3579dupTGCTGTAT	CDKL4	ENSG00000205111.10	transcript	ENST00000451199.7	protein_coding	4/9			chr2	TogoVar
CDKL4_chr2_39170646_39248970	39219404	C C	CTTATTTA others(1): Show CTTATTTAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA19009.hp1 NA19070.hp1 others(1): Show HG00408.hp1 NA19009.hp1 NA19070.hp1 NA19074.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0005c0007t0001 a0001c0001t0001 a0001c0001t0002 a0005c0007t0001	a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0002g0271 others(1): Show a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0002g0271 a0005c0007t0001g0100	4	290	0.0138	8	c.291 others(25): Show c.291-5940_291-5933dupATAAATAA	CDKL4	ENSG00000205111.10	transcript	ENST00000451199.7	protein_coding	3/9			chr2	TogoVar
CDKL5_chrX_18420608_18645196	18427374	A A	AAGCTGTA others(1): Show AAGCTGTAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0005 a0001c0001t0061g0005	1	192	0.0052	8	c.-16 others(27): Show c.-163+1683_-163+1684insGTAGAGCT	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	1/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18481320	G G	GTTTCTTT others(1): Show GTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02630.hp1 HG04184.hp1 others(1): Show HG02074.hp1 HG02630.hp1 HG04184.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0012	a0001c0001t0001g0164 a0001c0001t0002g0169 a0001c0001t0004g0165 others(1): Show a0001c0001t0001g0164 a0001c0001t0002g0169 a0001c0001t0004g0165 a0001c0001t0012g0001	4	192	0.0208	8	c.-16 others(29): Show c.-162-25571_-162-25564dupCTTTCTTT	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	1/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18509091	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	192	0.0052	8	c.65- others(23): Show c.65-1699_65-1692dupCACACACA	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	2/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18509197	G G	GCACACAC others(1): Show GCACACACA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02258.hp1 HG03225.hp1 others(2): Show HG00609.hp1 HG02258.hp1 HG03225.hp1 HG03490.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0056 a0001c0001t0002 a0001c0001t0003 a0001c0001t0056	a0001c0001t0002g0034 a0001c0001t0003g0026 a0001c0001t0003g0070 others(2): Show a0001c0001t0002g0034 a0001c0001t0003g0026 a0001c0001t0003g0070 a0001c0001t0003g0109 a0001c0001t0056g0144	5	192	0.0260	8	c.65- others(23): Show c.65-1581_65-1574dupACACACAC	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	2/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18509199	A A	ACGCGCGC others(1): Show ACGCGCGCG	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0185 a0001c0001t0004g0185	1	192	0.0052	8	c.65- others(23): Show c.65-1620_65-1619insGCGCGCGC	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	2/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18517756	G G	GTTGATTC others(1): Show GTTGATTCC	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0036 a0004c0003t0036	a0004c0003t0036g0008 a0004c0003t0036g0008	1	192	0.0052	8	c.99+ others(23): Show c.99+6902_99+6903insTTGATTCC	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	3/17			chrX	TogoVar
CDKL5_chrX_18420608_18645196	18518385	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0112 a0001c0001t0021g0112	1	192	0.0052	8	c.99+ others(23): Show c.99+7533_99+7534insTTTTTTTT	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	3/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18553465	C C	CGTGTGTG others(1): Show CGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	192	0.0052	8	c.100 others(27): Show c.100-10981_100-10974dupGTGTGTGT	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	3/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18626661	C C	CCTCTCTC others(1): Show CCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01070.hp2 HG01071.hp2 others(5): Show HG00642.hp1 HG01070.hp2 HG01071.hp2 HG01978.hp2 HG02071.hp1 HG02451.hp2 HG02630.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0023 a0001c0001t0024	a0001c0001t0001g0029 a0001c0001t0001g0072 a0001c0001t0002g0119 others(5): Show a0001c0001t0001g0029 a0001c0001t0001g0072 a0001c0001t0002g0119 a0001c0001t0003g0125 a0001c0001t0008g0120 a0001c0001t0023g0040 a0001c0001t0024g0095 a0001c0001t0024g0096	8	192	0.0417	8	c.249 others(27): Show c.2496+1470_2496+1477dupTCTCTCTC	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	17/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18640434	A A	ACCCCCCC others(1): Show ACCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0026 a0003c0004t0026	a0003c0004t0026g0079 a0003c0004t0026g0079	1	192	0.0052	8	c.11 others(21): Show c.11677_*11678insCCCCCCCC	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding		239		chrX	TogoVar
CDKN1A_chr6_36673714_36692332	36680307	C C	CGTGTGTG others(1): Show CGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG01074.hp2 others(48): Show HG00140.hp1 HG00280.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01255.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01928.hp1 HG01981.hp1 HG02083.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02622.hp1 HG02647.hp2 HG03130.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03704.hp1 HG04199.hp2 HG04204.hp2 NA18944.hp1 NA18947.hp1 NA18949.hp2 NA18952.hp1 NA18963.hp2 NA18964.hp1 NA18967.hp1 NA18967.hp2 NA18973.hp1 NA18978.hp1 NA19007.hp2 NA19030.hp1 NA19057.hp2 NA19058.hp2 NA19063.hp2 NA19064.hp2 NA19067.hp2 NA19070.hp2 NA19079.hp2 NA20752.hp2 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0008 a0002c0002 others(1): Show a0001c0001 a0001c0008 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0008t0001 a0002c0002t0002 a0003c0004t0001	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 others(41): Show a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0229 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0374 a0001c0001t0003g0230 a0001c0001t0005g0175 a0001c0008t0001g0181 a0002c0002t0002g0037 a0002c0002t0002g0174 a0003c0004t0001g0041	51	454	0.1123	8	c.-6+ others(23): Show c.-6+1540_-6+1547dupGTGTGTGT	CDKN1A	ENSG00000124762.14	transcript	ENST00000244741.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKN1A_chr6_36673714_36692332	36680340	G G	GTGTGTGT others(1): Show GTGTGTGTC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp2 HG01255.hp1 others(16): Show HG00642.hp1 HG00738.hp2 HG01255.hp1 HG01981.hp2 HG02273.hp1 HG02683.hp1 HG02738.hp2 HG03831.hp1 NA18940.hp1 NA18950.hp1 NA18965.hp1 NA18966.hp1 NA18980.hp1 NA18982.hp1 NA18999.hp1 NA19005.hp2 NA19085.hp1 NA19088.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0056 a0001c0001t0001g0328 a0001c0001t0001g0329 others(15): Show a0001c0001t0001g0056 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0375 a0003c0004t0001g0336	19	454	0.0419	8	c.-6+ others(23): Show c.-6+1547_-6+1548insGTCTGTGT	CDKN1A	ENSG00000124762.14	transcript	ENST00000244741.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKN1A_chr6_36673714_36692332	36681264	T T	TTTTCTTT others(1): Show TTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01261.hp1 HG01952.hp1 others(14): Show HG01069.hp2 HG01261.hp1 HG01952.hp1 HG02258.hp2 HG02717.hp2 HG03195.hp1 HG03209.hp2 NA18942.hp1 NA18946.hp2 NA18949.hp2 NA18950.hp2 NA18969.hp2 NA18982.hp2 NA19003.hp2 NA19004.hp2 NA19064.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0009 a0001c0008t0001 a0001c0001t0001 a0001c0001t0009 a0001c0008t0001	a0001c0001t0001g0012 a0001c0001t0001g0049 a0001c0001t0001g0169 others(10): Show a0001c0001t0001g0012 a0001c0001t0001g0049 a0001c0001t0001g0169 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0198 a0001c0001t0001g0218 a0001c0001t0001g0227 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0009g0031 a0001c0008t0001g0181	17	454	0.0374	8	c.-6+ others(23): Show c.-6+2474_-6+2481dupCTTTCTTT	CDKN1A	ENSG00000124762.14	transcript	ENST00000244741.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKN1A_chr6_36673714_36692332	36681266	T T	TTCTTTCT others(1): Show TTCTTTCTC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01192.hp2 HG01257.hp1 others(18): Show HG00597.hp2 HG01192.hp2 HG01257.hp1 HG01258.hp1 HG01361.hp1 HG02155.hp1 HG02630.hp1 HG02647.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03195.hp2 NA18522.hp1 NA18951.hp1 NA18954.hp2 NA18961.hp1 NA18975.hp2 NA18988.hp2 NA19030.hp1 NA19062.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004	a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0120 others(13): Show a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0120 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0005g0193 a0002c0002t0001g0061 a0002c0002t0001g0345 a0002c0002t0001g0353 a0002c0002t0002g0001 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0107 a0002c0002t0002g0156 a0002c0002t0002g0214 a0002c0002t0004g0060	21	454	0.0463	8	c.-6+ others(23): Show c.-6+2475_-6+2476insCTCTTTCT	CDKN1A	ENSG00000124762.14	transcript	ENST00000244741.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKN1A_chr6_36673714_36692332	36681334	T T	TTCTTTTT others(1): Show TTCTTTTTC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02145.hp1 HG02738.hp2 others(7): Show HG00642.hp1 HG02145.hp1 HG02738.hp2 HG03139.hp2 HG03516.hp1 HG03669.hp1 NA18993.hp2 NA19009.hp2 NA19062.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0291 a0001c0001t0001g0300 others(5): Show a0001c0001t0001g0015 a0001c0001t0001g0291 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0363 a0001c0001t0001g0364	10	454	0.0220	8	c.-6+ others(23): Show c.-6+2537_-6+2538insCTTTTTCT	CDKN1A	ENSG00000124762.14	transcript	ENST00000244741.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)