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
CDK5RAP2_chr9_120383875_120585167	120558371	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	232	0.0043	-14	c.196 others(31): Show c.196-7483_196-7470delTTTTTTTTTTTTTT	CDK5RAP2	ENSG00000136861.19	transcript	ENST00000349780.9	protein_coding	3/37			chr9	TogoVar
CDK5RAP3_chr17_47966113_47986781	47969556	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01358.hp1 HG01981.hp2 others(34): Show HG01070.hp2 HG01358.hp1 HG01981.hp2 HG02056.hp1 HG02074.hp2 HG02135.hp2 HG02155.hp2 HG02683.hp1 HG03688.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04199.hp1 NA18946.hp1 NA18951.hp1 NA18953.hp2 NA18954.hp1 NA18961.hp1 NA18962.hp2 NA18969.hp1 NA18973.hp1 NA18984.hp1 NA18995.hp1 NA19000.hp2 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19060.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp2 NA19080.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0017 a0001c0001 a0010c0017	a0001c0001t0001 a0010c0017t0001 a0001c0001t0001 a0010c0017t0001	a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0032 others(9): Show a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0064 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0081 a0010c0017t0001g0037	37	394	0.0939	-14	c.-15 others(25): Show c.-1590_-1577delAAAAAAAAAAAAAA	CDK5RAP3	ENSG00000108465.15	transcript	ENST00000338399.9	protein_coding		1556		chr17	TogoVar
CDK6_chr7_92599921_92841573	92672176	CACACACA others(7): Show CACACACAGACACAT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0107 a0001c0001t0023g0107	1	124	0.0081	-14	c.538 others(29): Show c.538-655_538-642delATGTGTCTGTGTGT	CDK6	ENSG00000105810.10	transcript	ENST00000424848.3	protein_coding	4/7			chr7	TogoVar
CDK6_chr7_92599921_92841573	92823443	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0024 a0001c0001t0005g0024	1	124	0.0081	-14	c.233 others(31): Show c.233+9634_233+9647delTTTTTTTTTTTTTT	CDK6	ENSG00000105810.10	transcript	ENST00000424848.3	protein_coding	2/7			chr7	TogoVar
CDK8_chr13_26249129_26410238	26271806	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03654.hp2 NA19004.hp1 HG02738.hp1 HG03654.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0015 a0001c0001t0001g0250 a0001c0001t0001g0251	3	328	0.0092	-14	c.128 others(33): Show c.128+17060_128+17073delTTTTTTTTTTTTTT	CDK8	ENSG00000132964.13	transcript	ENST00000381527.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
CDK8_chr13_26249129_26410238	26323314	AGAGAGAG others(7): Show AGAGAGAGAGAGAGG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02027.hp2 HG03453.hp2 others(2): Show HG00741.hp2 HG02027.hp2 HG03453.hp2 NA18951.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0070 a0001c0001t0001g0152 others(2): Show a0001c0001t0001g0063 a0001c0001t0001g0070 a0001c0001t0001g0152 a0001c0001t0001g0187 a0001c0001t0001g0235	5	328	0.0152	-14	c.129 others(33): Show c.129-14241_129-14228delAGGGAGAGAGAGAG	CDK8	ENSG00000132964.13	transcript	ENST00000381527.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
CDK8_chr13_26249129_26410238	26323326	AGGGAGAG others(7): Show AGGGAGAGAGAGAGG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02559.hp2 HG02572.hp2 others(8): Show HG01884.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG06807.hp2 NA19043.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 others(8): Show a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0006g0017	11	328	0.0335	-14	c.129 others(33): Show c.129-14239_129-14226delGGAGAGAGAGAGGG	CDK8	ENSG00000132964.13	transcript	ENST00000381527.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
CDK9_chr9_127781034_127795792	127795734	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02717.hp2 HG03225.hp2 HG02145.hp1 HG02717.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0005 a0001c0001t0007g0034 a0001c0001t0007g0005 a0001c0001t0007g0034	3	412	0.0073	-14	c.61 others(25): Show c.6192_*6205delAAAAAAAAAAAAAA	CDK9	ENSG00000136807.14	transcript	ENST00000373264.5	protein_coding		4943		chr9	TogoVar
CDKAL1_chr6_20529457_21237404	20609246	TCTTCTTC others(7): Show TCTTCTTCCTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	196	0.0051	-14	c.287 others(33): Show c.287-40042_287-40029delTTCCTCCTTCCTTC	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20612990	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00673.hp2 HG01106.hp2 others(27): Show HG00621.hp2 HG00673.hp2 HG01106.hp2 HG01167.hp2 HG01943.hp2 HG01978.hp2 HG02027.hp1 HG02129.hp1 HG02132.hp2 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02922.hp2 HG03831.hp2 HG04184.hp2 HG06807.hp1 NA18948.hp2 NA18950.hp1 NA18956.hp1 NA18966.hp2 NA18970.hp2 NA18992.hp1 NA19002.hp1 NA19007.hp1 NA19082.hp1 NA19085.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0012 a0002c0003 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0025 a0001c0002t0002 a0001c0002t0003 a0001c0002t0008 a0001c0002t0012 a0001c0002t0013 a0001c0002t0016 a0001c0002t0028 a0001c0002t0041 a0001c0006t0009 a0001c0008t0004 a0001c0012t0008 a0002c0003t0002 a0002c0003t0005 a0002c0003t0010 a0002c0003t0013 a0002c0007t0002 a0002c0007t0005	a0001c0001t0001g0070 a0001c0001t0001g0104 a0001c0001t0002g0042 others(27): Show a0001c0001t0001g0070 a0001c0001t0001g0104 a0001c0001t0002g0042 a0001c0001t0003g0149 a0001c0001t0007g0043 a0001c0001t0010g0035 a0001c0001t0010g0051 a0001c0001t0025g0060 a0001c0002t0002g0041 a0001c0002t0002g0049 a0001c0002t0003g0032 a0001c0002t0003g0055 a0001c0002t0008g0040 a0001c0002t0012g0039 a0001c0002t0013g0034 a0001c0002t0016g0045 a0001c0002t0028g0103 a0001c0002t0041g0012 a0001c0006t0009g0078 a0001c0008t0004g0105 a0001c0012t0008g0129 a0002c0003t0002g0056 a0002c0003t0002g0079 a0002c0003t0005g0080 a0002c0003t0005g0081 a0002c0003t0010g0134 a0002c0003t0013g0037 a0002c0007t0002g0048 a0002c0007t0005g0061 a0002c0007t0005g0062	30	196	0.1531	-14	c.287 others(33): Show c.287-36261_287-36248delCACACACACACACA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20613032	CACACACA others(7): Show CACACACACACACAA	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03540.hp2 NA18906.hp1 HG03471.hp1 HG03540.hp2 NA18906.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0004 a0001c0009t0004	a0001c0009t0004g0019 a0001c0009t0004g0027 a0001c0009t0004g0028 a0001c0009t0004g0019 a0001c0009t0004g0027 a0001c0009t0004g0028	3	196	0.0153	-14	c.287 others(33): Show c.287-36259_287-36246delCACACACACACAAA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20613249	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02559.hp2 NA18953.hp2 HG02145.hp2 HG02559.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0001 a0001c0001t0004 a0001c0001t0008	a0001c0001t0001g0018 a0001c0001t0004g0083 a0001c0001t0008g0159 a0001c0001t0001g0018 a0001c0001t0004g0083 a0001c0001t0008g0159	3	196	0.0153	-14	c.287 others(33): Show c.287-36014_287-36001delTTTTTTTTTTTTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20641830	GCGTGCGT others(7): Show GCGTGCGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(50): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00544.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG01167.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01361.hp2 HG01515.hp1 HG01516.hp2 HG01891.hp1 HG01978.hp1 HG02027.hp2 HG02055.hp1 HG02109.hp2 HG02145.hp2 HG02300.hp2 HG02559.hp2 HG02622.hp2 HG02630.hp2 HG02818.hp1 HG02922.hp2 HG02965.hp2 HG03017.hp2 HG03130.hp2 HG03139.hp2 HG03453.hp2 HG03490.hp1 HG03491.hp2 HG04184.hp1 HG04228.hp1 HG04228.hp2 NA18948.hp1 NA18954.hp2 NA18957.hp1 NA18978.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp2 NA18992.hp2 NA18994.hp2 NA19002.hp2 NA19005.hp2 NA19043.hp2 NA19085.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0008 a0002c0003 a0005c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0023 a0001c0001t0024 a0001c0001t0027 a0001c0001t0032 a0001c0001t0046 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0012 a0001c0002t0013 a0001c0002t0020 a0001c0002t0028 a0001c0002t0034 a0001c0002t0040 a0001c0005t0004 a0001c0005t0007 a0001c0006t0003 a0001c0006t0006 a0001c0006t0009 a0001c0008t0004 a0002c0003t0002 a0002c0003t0003 a0002c0003t0005 a0002c0003t0020 a0005c0014t0008	a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0065 others(50): Show a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0065 a0001c0001t0001g0104 a0001c0001t0001g0126 a0001c0001t0001g0176 a0001c0001t0002g0124 a0001c0001t0003g0082 a0001c0001t0003g0113 a0001c0001t0003g0156 a0001c0001t0004g0083 a0001c0001t0005g0137 a0001c0001t0008g0123 a0001c0001t0009g0138 a0001c0001t0010g0109 a0001c0001t0014g0067 a0001c0001t0014g0072 a0001c0001t0015g0095 a0001c0001t0017g0112 a0001c0001t0018g0005 a0001c0001t0023g0115 a0001c0001t0024g0152 a0001c0001t0027g0120 a0001c0001t0032g0196 a0001c0001t0046g0077 a0001c0002t0001g0108 a0001c0002t0002g0063 a0001c0002t0003g0010 a0001c0002t0003g0020 a0001c0002t0003g0066 a0001c0002t0003g0073 a0001c0002t0003g0114 a0001c0002t0012g0076 a0001c0002t0013g0118 a0001c0002t0013g0122 a0001c0002t0020g0116 a0001c0002t0028g0103 a0001c0002t0028g0117 a0001c0002t0034g0182 a0001c0002t0040g0125 a0001c0005t0004g0033 a0001c0005t0007g0084 a0001c0006t0003g0029 a0001c0006t0003g0030 a0001c0006t0006g0111 a0001c0006t0009g0078 a0001c0008t0004g0105 a0002c0003t0002g0144 a0002c0003t0002g0157 a0002c0003t0003g0107 a0002c0003t0005g0121 a0002c0003t0020g0075 a0005c0014t0008g0119	53	196	0.2704	-14	c.287 others(31): Show c.287-7461_287-7448delGTGCGTGTGTGTAC	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20748554	GGAAAAAA others(7): Show GGAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0004 a0001c0001t0031g0004	1	196	0.0051	-14	c.468 others(31): Show c.468+8940_468+8953delGAAAAAAAAAAAAA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	6/15			chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20799040	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02922.hp2 HG03139.hp1 others(1): Show HG02145.hp2 HG02922.hp2 HG03139.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0011 a0001c0001 a0001c0008 a0001c0011	a0001c0001t0001 a0001c0001t0021 a0001c0008t0004 others(1): Show a0001c0001t0001 a0001c0001t0021 a0001c0008t0004 a0001c0011t0004	a0001c0001t0001g0018 a0001c0001t0021g0177 a0001c0008t0004g0105 others(1): Show a0001c0001t0001g0018 a0001c0001t0021g0177 a0001c0008t0004g0105 a0001c0011t0004g0130	4	196	0.0204	-14	c.638 others(33): Show c.638+17791_638+17804delTTTTTTTTTTTTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20810392	TCACACAC others(7): Show TCACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01257.hp2 HG01258.hp1 others(25): Show HG00140.hp1 HG01257.hp2 HG01258.hp1 HG01361.hp2 HG01515.hp1 HG01943.hp2 HG02027.hp1 HG02055.hp1 HG02273.hp2 HG02300.hp2 HG02559.hp1 HG02630.hp2 HG03453.hp2 HG03471.hp1 HG03540.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp2 NA18906.hp1 NA18953.hp1 NA18954.hp2 NA18956.hp1 NA18983.hp2 NA18992.hp1 NA19007.hp1 NA19082.hp1 NA20300.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0008 a0001c0009 a0002c0003 a0002c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(15): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0025 a0001c0001t0032 a0001c0002t0002 a0001c0002t0003 a0001c0002t0013 a0001c0005t0007 a0001c0006t0009 a0001c0008t0011 a0001c0009t0004 a0002c0003t0002 a0002c0003t0003 a0002c0003t0005 a0002c0007t0002	a0001c0001t0001g0003 a0001c0001t0003g0113 a0001c0001t0006g0011 others(25): Show a0001c0001t0001g0003 a0001c0001t0003g0113 a0001c0001t0006g0011 a0001c0001t0007g0043 a0001c0001t0010g0035 a0001c0001t0010g0109 a0001c0001t0025g0060 a0001c0001t0032g0196 a0001c0002t0002g0041 a0001c0002t0002g0047 a0001c0002t0003g0073 a0001c0002t0013g0122 a0001c0005t0007g0084 a0001c0006t0009g0078 a0001c0008t0011g0181 a0001c0009t0004g0019 a0001c0009t0004g0027 a0001c0009t0004g0028 a0002c0003t0002g0056 a0002c0003t0002g0057 a0002c0003t0002g0079 a0002c0003t0002g0144 a0002c0003t0002g0157 a0002c0003t0003g0107 a0002c0003t0005g0053 a0002c0003t0005g0080 a0002c0003t0005g0081 a0002c0007t0002g0048	28	196	0.1429	-14	c.638 others(33): Show c.638+29167_638+29180delACACACACACACAC	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20810627	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0011 a0001c0008t0011	a0001c0008t0011g0069 a0001c0008t0011g0069	1	196	0.0051	-14	c.638 others(33): Show c.638+29387_638+29400delGTGTGTGTGTGTGT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20902311	TCACACAC others(7): Show TCACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00544.hp2 others(62): Show HG00099.hp1 HG00140.hp1 HG00544.hp2 HG00621.hp2 HG00673.hp1 HG01192.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01934.hp1 HG01978.hp2 HG02027.hp1 HG02056.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02280.hp1 HG02300.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp2 HG04204.hp2 HG04228.hp1 NA18906.hp2 NA18948.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp1 NA18957.hp2 NA18966.hp1 NA18966.hp2 NA18978.hp1 NA18983.hp2 NA18990.hp1 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19082.hp2 NA20300.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(10): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0013 a0002c0003 a0002c0007 a0003c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(40): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0031 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0012 a0001c0002t0013 a0001c0002t0041 a0001c0002t0044 a0001c0002t0047 a0001c0004t0001 a0001c0004t0007 a0001c0004t0037 a0001c0005t0006 a0001c0005t0007 a0001c0006t0006 a0001c0006t0009 a0001c0008t0004 a0001c0008t0011 a0001c0009t0004 a0001c0010t0007 a0001c0011t0004 a0001c0013t0004 a0002c0003t0002 a0002c0003t0005 a0002c0003t0020 a0002c0007t0005 a0002c0007t0029 a0003c0015t0010	a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0096 others(62): Show a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0096 a0001c0001t0001g0104 a0001c0001t0002g0139 a0001c0001t0002g0168 a0001c0001t0002g0172 a0001c0001t0003g0113 a0001c0001t0003g0156 a0001c0001t0004g0031 a0001c0001t0004g0097 a0001c0001t0006g0179 a0001c0001t0007g0164 a0001c0001t0008g0016 a0001c0001t0008g0054 a0001c0001t0008g0159 a0001c0001t0010g0109 a0001c0001t0021g0177 a0001c0001t0023g0169 a0001c0001t0024g0158 a0001c0001t0025g0060 a0001c0001t0026g0058 a0001c0001t0027g0180 a0001c0001t0031g0004 a0001c0002t0001g0174 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0090 a0001c0002t0003g0032 a0001c0002t0003g0073 a0001c0002t0003g0074 a0001c0002t0003g0114 a0001c0002t0005g0161 a0001c0002t0012g0039 a0001c0002t0013g0034 a0001c0002t0041g0012 a0001c0002t0044g0038 a0001c0002t0047g0146 a0001c0004t0001g0101 a0001c0004t0001g0127 a0001c0004t0001g0128 a0001c0004t0007g0015 a0001c0004t0037g0098 a0001c0005t0006g0085 a0001c0005t0007g0084 a0001c0006t0006g0023 a0001c0006t0009g0078 a0001c0008t0004g0105 a0001c0008t0011g0181 a0001c0009t0004g0027 a0001c0009t0004g0028 a0001c0010t0007g0044 a0001c0011t0004g0130 a0001c0013t0004g0006 a0002c0003t0002g0056 a0002c0003t0002g0057 a0002c0003t0002g0079 a0002c0003t0005g0053 a0002c0003t0005g0080 a0002c0003t0005g0081 a0002c0003t0020g0075 a0002c0007t0005g0061 a0002c0007t0005g0062 a0002c0007t0029g0014 a0003c0015t0010g0171	65	196	0.3316	-14	c.743 others(33): Show c.743-53073_743-53060delCACACACACACACA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20909181	ATGTATGT others(7): Show ATGTATGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp1 HG00609.hp1 others(35): Show HG00323.hp2 HG00544.hp1 HG00609.hp1 HG00621.hp1 HG00642.hp2 HG00673.hp2 HG01106.hp2 HG01192.hp2 HG01257.hp1 HG01358.hp2 HG01515.hp2 HG01516.hp2 HG01978.hp1 HG02056.hp2 HG02129.hp1 HG02145.hp1 HG02257.hp1 HG02273.hp1 HG03017.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03516.hp2 HG03579.hp2 HG03831.hp1 HG03834.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp2 NA18953.hp2 NA18957.hp2 NA18970.hp2 NA18983.hp1 NA18992.hp2 NA19002.hp2 NA19005.hp1 NA19085.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0010 a0002c0003 a0002c0007 a0005c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0024 a0001c0001t0027 a0001c0001t0042 a0001c0001t0046 a0001c0001t0048 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0002t0008 a0001c0002t0011 a0001c0002t0020 a0001c0002t0033 a0001c0004t0037 a0001c0006t0003 a0001c0010t0002 a0001c0010t0017 a0002c0003t0005 a0002c0007t0029 a0002c0007t0038 a0005c0014t0008	a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0126 others(35): Show a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0126 a0001c0001t0001g0136 a0001c0001t0001g0176 a0001c0001t0002g0042 a0001c0001t0002g0124 a0001c0001t0002g0172 a0001c0001t0003g0149 a0001c0001t0003g0162 a0001c0001t0008g0123 a0001c0001t0008g0159 a0001c0001t0009g0138 a0001c0001t0024g0152 a0001c0001t0027g0120 a0001c0001t0042g0142 a0001c0001t0046g0077 a0001c0001t0048g0143 a0001c0002t0001g0148 a0001c0002t0001g0174 a0001c0002t0002g0049 a0001c0002t0003g0055 a0001c0002t0003g0140 a0001c0002t0003g0170 a0001c0002t0003g0184 a0001c0002t0007g0154 a0001c0002t0008g0040 a0001c0002t0011g0131 a0001c0002t0020g0116 a0001c0002t0033g0193 a0001c0004t0037g0098 a0001c0006t0003g0030 a0001c0010t0002g0106 a0001c0010t0017g0194 a0002c0003t0005g0121 a0002c0007t0029g0014 a0002c0007t0038g0173 a0005c0014t0008g0119	38	196	0.1939	-14	c.743 others(33): Show c.743-46234_743-46221delATGTGTGTGTGTGT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20928747	GGCCTTGA others(7): Show GGCCTTGAACTCCTA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0033 a0001c0005t0004g0033	1	196	0.0051	-14	c.743 others(33): Show c.743-26667_743-26654delTGAACTCCTAGCCT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21091857	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0029 a0001c0006t0003g0029	1	196	0.0051	-14	c.123 others(35): Show c.1237-16510_1237-16497delTTTTTTTTTTTTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21107513	TGCCTCCC others(7): Show TGCCTCCCAGGTTCA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03130.hp1 HG02572.hp2 HG03130.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0010 a0002c0003t0004 a0002c0003t0010	a0002c0003t0004g0132 a0002c0003t0010g0134 a0002c0003t0004g0132 a0002c0003t0010g0134	2	196	0.0102	-14	c.123 others(31): Show c.1237-887_1237-874delGCCTCCCAGGTTCA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	12/15			chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21203215	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0002	1	196	0.0051	-14	c.154 others(33): Show c.1548+1965_1548+1978delTTTTTTTTTTTTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21217477	TTTTATTT others(7): Show TTTTATTTTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp1 HG02559.hp1 others(8): Show HG01891.hp1 HG02280.hp1 HG02559.hp1 HG02615.hp2 HG02647.hp1 HG03471.hp1 HG03486.hp1 HG03540.hp2 HG03579.hp1 NA18906.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 others(2): Show a0001c0001 a0001c0004 a0001c0005 a0001c0008 a0001c0009	a0001c0001t0001 a0001c0001t0015 a0001c0004t0004 others(4): Show a0001c0001t0001 a0001c0001t0015 a0001c0004t0004 a0001c0004t0037 a0001c0005t0004 a0001c0008t0011 a0001c0009t0004	a0001c0001t0001g0096 a0001c0001t0015g0191 a0001c0004t0004g0102 others(8): Show a0001c0001t0001g0096 a0001c0001t0015g0191 a0001c0004t0004g0102 a0001c0004t0037g0098 a0001c0005t0004g0033 a0001c0008t0011g0068 a0001c0008t0011g0069 a0001c0008t0011g0181 a0001c0009t0004g0019 a0001c0009t0004g0027 a0001c0009t0004g0028	11	196	0.0561	-14	c.154 others(35): Show c.1549-13347_1549-13334delATTTATTTATTTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21233952	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0141	1	196	0.0051	-14	c.29 others(25): Show c.2914_*2927delGTGTGTGTGTGTGT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding		1549		chr6	TogoVar
CDKL1_chr14_50321265_50401881	50329056	TATATATA others(7): Show TATATATACATACAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0131 a0001c0001t0131	a0001c0001t0131g0265 a0001c0001t0131g0265	1	306	0.0033	-14	c.10 others(25): Show c.1004_*1017delGTGTATGTATATAT	CDKL1	ENSG00000100490.10	transcript	ENST00000395834.6	protein_coding	10/10	1004		chr14	TogoVar
CDKL2_chr4_75571496_75635528	75574389	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00639.hp2 HG00738.hp1 others(32): Show HG00544.hp2 HG00639.hp2 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01123.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01261.hp2 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG02280.hp1 HG02723.hp1 HG02809.hp2 HG02886.hp1 HG02922.hp2 HG03195.hp2 HG03486.hp2 HG03579.hp2 HG03710.hp2 NA18962.hp1 NA18966.hp2 NA18983.hp2 NA18987.hp1 NA19001.hp2 NA19006.hp1 NA19007.hp1 NA19043.hp1 NA19087.hp2 NA19240.hp2 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0011 a0001c0001t0012 a0001c0001t0004 a0001c0001t0011 a0001c0001t0012	a0001c0001t0004g0002 a0001c0001t0004g0015 a0001c0001t0004g0048 others(31): Show a0001c0001t0004g0002 a0001c0001t0004g0015 a0001c0001t0004g0048 a0001c0001t0004g0051 a0001c0001t0004g0054 a0001c0001t0004g0055 a0001c0001t0004g0056 a0001c0001t0004g0058 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0004g0061 a0001c0001t0004g0062 a0001c0001t0004g0063 a0001c0001t0004g0064 a0001c0001t0004g0066 a0001c0001t0004g0068 a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0004g0072 a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0081 a0001c0001t0004g0082 a0001c0001t0004g0083 a0001c0001t0011g0049 a0001c0001t0011g0052 a0001c0001t0011g0053 a0001c0001t0011g0067 a0001c0001t0012g0012 a0001c0001t0012g0013 a0001c0001t0012g0014	35	306	0.1144	-14	c.47 others(25): Show c.4799_*4812delTTTTTTTTTTTTTT	CDKL2	ENSG00000138769.11	transcript	ENST00000307465.9	protein_coding		2106		chr4	TogoVar
CDKL2_chr4_75571496_75635528	75629938	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02896.hp2 HG03041.hp1 HG02559.hp2 HG02896.hp2 HG03041.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0015 a0003c0003t0009 a0001c0001t0001 a0001c0001t0015 a0003c0003t0009	a0001c0001t0001g0096 a0001c0001t0015g0094 a0003c0003t0009g0095 a0001c0001t0001g0096 a0001c0001t0015g0094 a0003c0003t0009g0095	3	306	0.0098	-14	c.-30 others(28): Show c.-30+90_-30+103delTTTTTTTTTTTTTT	CDKL2	ENSG00000138769.11	transcript	ENST00000307465.9	protein_coding	1/13			chr4	TogoVar
CDKL3_chr5_134293424_134372171	134326817	GTATATAT others(7): Show GTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	210	0.0048	-14	c.540 others(31): Show c.540-4928_540-4915delTATATATATATATA	CDKL3	ENSG00000006837.12	transcript	ENST00000265334.9	protein_coding	4/12			chr5	TogoVar
CDKL3_chr5_134293424_134372171	134326854	TATATATA others(7): Show TATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02970.hp1 HG00741.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0194 a0001c0001t0001g0098 a0001c0001t0001g0194	2	210	0.0095	-14	c.540 others(31): Show c.540-4965_540-4952delGTATATATATATAT	CDKL3	ENSG00000006837.12	transcript	ENST00000265334.9	protein_coding	4/12			chr5	TogoVar
CDKL4_chr2_39170646_39248970	39191276	GTCGTCCT others(7): Show GTCGTCCTAGCTACT	G G	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0041 a0001c0001t0003g0041	1	290	0.0035	-14	c.455 others(29): Show c.455-788_455-775delAGTAGCTAGGACGA	CDKL4	ENSG00000205111.10	transcript	ENST00000451199.7	protein_coding	5/9			chr2	TogoVar
CDKL4_chr2_39170646_39248970	39220999	TTGTTTTT others(7): Show TTGTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG01934.hp2 others(13): Show HG00140.hp1 HG00408.hp2 HG01934.hp2 HG02129.hp1 HG02132.hp1 HG02647.hp2 HG02698.hp1 HG03490.hp1 HG03492.hp2 HG03927.hp1 NA18953.hp1 NA18954.hp1 NA18959.hp2 NA18961.hp2 NA18983.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0140 a0001c0001t0001g0141 others(12): Show a0001c0001t0001g0002 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0189 a0001c0001t0001g0221	16	290	0.0552	-14	c.290 others(31): Show c.290+4826_290+4839delCAAAAAAAAAAACA	CDKL4	ENSG00000205111.10	transcript	ENST00000451199.7	protein_coding	3/9			chr2	TogoVar
CDKL4_chr2_39170646_39248970	39221010	TTTGTTTT others(7): Show TTTGTTTTGTTTTTG	T T	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	290	0.0035	-14	c.290 others(31): Show c.290+4815_290+4828delCAAAAACAAAACAA	CDKL4	ENSG00000205111.10	transcript	ENST00000451199.7	protein_coding	3/9			chr2	TogoVar
CDKL5_chrX_18420608_18645196	18509197	GCACACAC others(7): Show GCACACACACACACA	G G	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0020 a0001c0001t0003g0020	1	192	0.0052	-14	c.65- others(29): Show c.65-1587_65-1574delACACACACACACAC	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	2/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18517637	CAGGCCTG others(7): Show CAGGCCTGCAATATA	C C	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0036 a0004c0003t0036	a0004c0003t0036g0008 a0004c0003t0036g0008	1	192	0.0052	-14	c.99+ others(29): Show c.99+6784_99+6797delAGGCCTGCAATATA	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	3/17			chrX	TogoVar
CDKL5_chrX_18420608_18645196	18518388	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02630.hp1 HG02300.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0059 a0001c0001t0012g0001 a0001c0001t0001g0059 a0001c0001t0012g0001	2	192	0.0104	-14	c.99+ others(29): Show c.99+7556_99+7569delTTTTTTTTTTTTTT	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	3/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18606174	TCACACAC others(7): Show TCACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA18941.hp1 NA18995.hp1 others(2): Show HG00642.hp1 NA18941.hp1 NA18995.hp1 NA19006.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0045 a0001c0001t0001 a0001c0001t0008 a0001c0001t0045	a0001c0001t0001g0057 a0001c0001t0001g0130 a0001c0001t0008g0118 others(2): Show a0001c0001t0001g0057 a0001c0001t0001g0130 a0001c0001t0008g0118 a0001c0001t0008g0120 a0001c0001t0045g0082	5	192	0.0260	-14	c.194 others(33): Show c.1944+1329_1944+1342delCACACACACACACA	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	12/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18626661	CCTCTCTC others(7): Show CCTCTCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01099.hp1 HG01261.hp1 others(13): Show HG00621.hp1 HG01099.hp1 HG01261.hp1 HG02129.hp1 HG02135.hp1 HG02976.hp1 HG03017.hp1 HG03453.hp2 HG03942.hp1 HG04199.hp1 HG04204.hp1 NA18955.hp1 NA18957.hp2 NA19009.hp1 NA19072.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0041 a0001c0001t0043 a0001c0001t0046 a0001c0001t0062	a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0089 others(13): Show a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0089 a0001c0001t0001g0101 a0001c0001t0002g0102 a0001c0001t0002g0107 a0001c0001t0002g0163 a0001c0001t0003g0066 a0001c0001t0003g0077 a0001c0001t0005g0073 a0001c0001t0007g0009 a0001c0001t0007g0062 a0001c0001t0041g0138 a0001c0001t0043g0045 a0001c0001t0046g0047 a0001c0001t0062g0051	16	192	0.0833	-14	c.249 others(33): Show c.2496+1464_2496+1477delTCTCTCTCTCTCTC	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	17/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKN2AIPNL_chr5_134397065_134416881	134416631	TTTGCATT others(7): Show TTTGCATTTTTCTAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00642.hp2 HG00738.hp1 others(10): Show HG00140.hp2 HG00642.hp2 HG00738.hp1 HG01358.hp2 HG01496.hp2 HG01993.hp2 HG02109.hp1 HG03491.hp2 HG03492.hp2 HG03834.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0069 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0069 a0001c0001t0001g0077 a0001c0001t0001g0109	13	380	0.0342	-14	c.-47 others(25): Show c.-4791_-4778delTTAGAAAAATGCAA	CDKN2AIPNL	ENSG00000237190.4	transcript	ENST00000458198.3	protein_coding		4751		chr5	TogoVar
CDKN2A_chr9_21962752_21999392	21980992	ATATATAT others(7): Show ATATATATATACGTG	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03486.hp2 NA21309.hp2 HG03453.hp2 HG03486.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0227 a0001c0001t0001g0232 a0001c0001t0001g0112 a0001c0001t0001g0227 a0001c0001t0001g0232	3	404	0.0074	-14	c.194 others(31): Show c.194-9798_194-9785delCACGTATATATATA	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21981078	ATATATAT others(7): Show ATATATATATACGTG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02622.hp2 NA21309.hp1 HG01261.hp1 HG02622.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0117 a0001c0001t0003g0150 a0001c0001t0003g0153 a0001c0001t0003g0117 a0001c0001t0003g0150 a0001c0001t0003g0153	3	404	0.0074	-14	c.194 others(31): Show c.194-9884_194-9871delCACGTATATATATA	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21987432	CAGAGAGA others(7): Show CAGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG03688.hp2 NA18980.hp1 others(2): Show HG01258.hp2 HG03688.hp2 NA18980.hp1 NA19060.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0094 a0001c0001t0001g0164 a0001c0001t0001g0165 others(2): Show a0001c0001t0001g0094 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0002g0316	5	404	0.0124	-14	c.193 others(31): Show c.193+6693_193+6706delCTCTCTCTCTCTCT	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21990611	TGAGAGAG others(7): Show TGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02630.hp1 HG02886.hp2 others(2): Show HG01433.hp2 HG02630.hp1 HG02886.hp2 HG03209.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0232 others(2): Show a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0232 a0001c0001t0001g0275 a0001c0001t0001g0280	5	404	0.0124	-14	c.193 others(31): Show c.193+3514_193+3527delTCTCTCTCTCTCTC	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21993799	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03041.hp2 HG03579.hp2 HG01192.hp2 HG03041.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0357 a0001c0001t0002g0358 a0001c0001t0002g0359 a0001c0001t0002g0357 a0001c0001t0002g0358 a0001c0001t0002g0359	3	404	0.0074	-14	c.193 others(29): Show c.193+326_193+339delCACACACACACACA	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2B_chr9_21997903_22014305	22005112	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18980.hp1 NA19011.hp1 NA19060.hp2 others(1): Show NA18980.hp1 NA19011.hp1 NA19060.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0017 a0001c0001t0016g0017	4	416	0.0096	-14	c.86 others(23): Show c.861_*874delCACACACACACACA	CDKN2B	ENSG00000147883.12	transcript	ENST00000276925.7	protein_coding	2/2	861		chr9	TogoVar
CDKN2D_chr19_10561460_10573979	10566722	AGGCTCCC others(7): Show AGGCTCCCTGGAGGT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0014 a0001c0001t0005g0014	1	410	0.0024	-14	c.32 others(23): Show c.322_*335delACCTCCAGGGAGCC	CDKN2D	ENSG00000129355.7	transcript	ENST00000393599.3	protein_coding	2/2	322		chr19	TogoVar
CDON_chr11_125951821_126067866	125981351	GACACACA others(7): Show GACACACACGCACAC	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01123.hp1 HG01255.hp1 others(1): Show HG01081.hp2 HG01123.hp1 HG01255.hp1 HG01496.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0033 a0002c0002t0009 a0002c0002t0033	a0002c0002t0009g0284 a0002c0002t0009g0290 a0002c0002t0009g0293 others(1): Show a0002c0002t0009g0284 a0002c0002t0009g0290 a0002c0002t0009g0293 a0002c0002t0033g0291	4	334	0.0120	-14	c.299 others(29): Show c.2996-36_2996-23delGTGTGCGTGTGTGT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	16/19			chr11	TogoVar
CDON_chr11_125951821_126067866	125996161	AACACACA others(7): Show AACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp2 HG01168.hp1 others(32): Show HG00639.hp1 HG00642.hp2 HG01168.hp1 HG01358.hp1 HG01361.hp2 HG01928.hp1 HG01928.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02135.hp1 HG02155.hp2 HG02165.hp2 HG02300.hp1 HG02300.hp2 HG02647.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03492.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG04184.hp1 NA18522.hp2 NA18947.hp2 NA18949.hp1 NA18968.hp1 NA18982.hp2 NA18990.hp1 NA19030.hp1 NA19030.hp2 NA19062.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0006 a0007 a0024 a0026 a0030	a0001c0004 a0001c0009 a0001c0033 others(12): Show a0001c0004 a0001c0009 a0001c0033 a0001c0067 a0002c0002 a0002c0012 a0002c0048 a0003c0006 a0005c0030 a0005c0046 a0006c0034 a0007c0029 a0024c0051 a0026c0038 a0030c0064	a0001c0004t0003 a0001c0009t0004 a0001c0009t0014 others(19): Show a0001c0004t0003 a0001c0009t0004 a0001c0009t0014 a0001c0009t0059 a0001c0033t0043 a0001c0067t0003 a0002c0002t0089 a0002c0012t0004 a0002c0048t0026 a0003c0006t0004 a0003c0006t0014 a0003c0006t0015 a0003c0006t0055 a0005c0030t0038 a0005c0030t0096 a0005c0046t0002 a0006c0034t0002 a0006c0034t0050 a0007c0029t0007 a0024c0051t0002 a0026c0038t0004 a0030c0064t0002	a0001c0004t0003g0051 a0001c0009t0004g0071 a0001c0009t0004g0085 others(32): Show a0001c0004t0003g0051 a0001c0009t0004g0071 a0001c0009t0004g0085 a0001c0009t0004g0104 a0001c0009t0004g0159 a0001c0009t0004g0247 a0001c0009t0014g0163 a0001c0009t0059g0215 a0001c0033t0043g0250 a0001c0067t0003g0042 a0002c0002t0089g0288 a0002c0012t0004g0093 a0002c0012t0004g0182 a0002c0048t0026g0141 a0003c0006t0004g0052 a0003c0006t0004g0178 a0003c0006t0004g0187 a0003c0006t0004g0198 a0003c0006t0004g0234 a0003c0006t0014g0053 a0003c0006t0014g0177 a0003c0006t0015g0186 a0003c0006t0015g0197 a0003c0006t0015g0235 a0003c0006t0055g0179 a0005c0030t0038g0005 a0005c0030t0096g0315 a0005c0046t0002g0183 a0006c0034t0002g0035 a0006c0034t0050g0225 a0007c0029t0007g0130 a0007c0029t0007g0131 a0024c0051t0002g0180 a0026c0038t0004g0196 a0030c0064t0002g0227	35	334	0.1048	-14	c.236 others(33): Show c.2362+1032_2362+1045delGTGTGTGTGTGTGT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	12/19			chr11	TogoVar
CDON_chr11_125951821_126067866	126040814	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02622.hp2 HG02630.hp2 others(7): Show HG01358.hp2 HG02622.hp2 HG02630.hp2 HG02886.hp1 HG02886.hp2 HG03041.hp2 HG03139.hp1 HG06807.hp2 NA18906.hp1 NA21309.hp1	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0009 a0011 a0012	a0001c0001 a0001c0071 a0002c0003 others(7): Show a0001c0001 a0001c0071 a0002c0003 a0002c0027 a0005c0010 a0005c0045 a0005c0047 a0009c0016 a0011c0018 a0012c0059	a0001c0001t0020 a0001c0071t0073 a0002c0003t0037 others(7): Show a0001c0001t0020 a0001c0071t0073 a0002c0003t0037 a0002c0027t0028 a0005c0010t0102 a0005c0045t0017 a0005c0047t0095 a0009c0016t0110 a0011c0018t0035 a0012c0059t0108	a0001c0001t0020g0230 a0001c0071t0073g0251 a0002c0003t0037g0004 others(7): Show a0001c0001t0020g0230 a0001c0071t0073g0251 a0002c0003t0037g0004 a0002c0027t0028g0146 a0005c0010t0102g0316 a0005c0045t0017g0243 a0005c0047t0095g0317 a0009c0016t0110g0328 a0011c0018t0035g0318 a0012c0059t0108g0327	10	334	0.0299	-14	c.-61 others(33): Show c.-61-17291_-61-17278delTTTTTTTTTTTTTT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	1/19			chr11	TogoVar
CDON_chr11_125951821_126067866	126048976	TACAGGCG others(7): Show TACAGGCGTGAGCCA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00735.hp1 HG01069.hp2 others(36): Show HG00140.hp1 HG00735.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01123.hp2 HG01175.hp1 HG01257.hp1 HG01361.hp2 HG01433.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01978.hp1 HG02055.hp1 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02723.hp1 HG02886.hp1 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03486.hp1 HG03579.hp1 HG03654.hp1 HG03710.hp2 HG04204.hp1 NA18522.hp1 NA18906.hp1 NA20752.hp2	a0001 a0002 a0005 others(9): Show a0001 a0002 a0005 a0006 a0007 a0008 a0009 a0011 a0012 a0014 a0015 a0019	a0001c0001 a0001c0004 a0001c0009 others(19): Show a0001c0001 a0001c0004 a0001c0009 a0002c0002 a0002c0003 a0002c0012 a0002c0028 a0002c0031 a0002c0054 a0005c0010 a0005c0030 a0005c0047 a0006c0011 a0007c0008 a0008c0007 a0009c0016 a0009c0025 a0011c0018 a0012c0059 a0014c0032 a0015c0041 a0019c0052	a0001c0001t0013 a0001c0004t0003 a0001c0009t0075 others(27): Show a0001c0001t0013 a0001c0004t0003 a0001c0009t0075 a0002c0002t0008 a0002c0002t0085 a0002c0002t0090 a0002c0003t0005 a0002c0012t0004 a0002c0012t0076 a0002c0028t0099 a0002c0028t0101 a0002c0031t0093 a0002c0031t0094 a0002c0054t0009 a0005c0010t0006 a0005c0010t0102 a0005c0030t0096 a0005c0047t0095 a0006c0011t0006 a0007c0008t0100 a0007c0008t0112 a0008c0007t0006 a0009c0016t0034 a0009c0016t0110 a0009c0025t0023 a0011c0018t0035 a0012c0059t0108 a0014c0032t0088 a0015c0041t0109 a0019c0052t0011	a0001c0001t0013g0147 a0001c0004t0003g0048 a0001c0009t0075g0278 others(36): Show a0001c0001t0013g0147 a0001c0004t0003g0048 a0001c0009t0075g0278 a0002c0002t0008g0252 a0002c0002t0008g0254 a0002c0002t0008g0255 a0002c0002t0008g0266 a0002c0002t0085g0259 a0002c0002t0090g0261 a0002c0003t0005g0181 a0002c0012t0004g0182 a0002c0012t0076g0253 a0002c0028t0099g0313 a0002c0028t0101g0311 a0002c0031t0093g0309 a0002c0031t0094g0310 a0002c0054t0009g0263 a0005c0010t0006g0256 a0005c0010t0102g0316 a0005c0030t0096g0315 a0005c0047t0095g0317 a0006c0011t0006g0264 a0006c0011t0006g0265 a0007c0008t0100g0314 a0007c0008t0112g0331 a0008c0007t0006g0258 a0008c0007t0006g0260 a0008c0007t0006g0262 a0009c0016t0034g0275 a0009c0016t0110g0328 a0009c0025t0023g0276 a0009c0025t0023g0277 a0009c0025t0023g0279 a0011c0018t0035g0312 a0011c0018t0035g0318 a0012c0059t0108g0327 a0014c0032t0088g0271 a0015c0041t0109g0329 a0019c0052t0011g0257	39	334	0.1168	-14	c.-62 others(33): Show c.-62+13589_-62+13602delTGGCTCACGCCTGT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	1/19			chr11	TogoVar

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