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
CDKAL1_chr6_20529457_21237404	20753953	C C	CTGTGTGT others(3): Show CTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01361.hp2 HG02109.hp2 others(3): Show HG00544.hp2 HG01361.hp2 HG02109.hp2 HG03516.hp2 NA18983.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0003 a0001c0001t0005 a0001c0002t0003 others(2): Show a0001c0001t0003 a0001c0001t0005 a0001c0002t0003 a0001c0002t0011 a0001c0010t0007	a0001c0001t0003g0113 a0001c0001t0005g0137 a0001c0002t0003g0073 others(3): Show a0001c0001t0003g0113 a0001c0001t0005g0137 a0001c0002t0003g0073 a0001c0002t0003g0114 a0001c0002t0011g0131 a0001c0010t0007g0044	6	196	0.0306	10	c.469 others(27): Show c.469-4639_469-4638insGTGTGTGTGT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20753957	A A	ATGTGTGT others(3): Show ATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01255.hp2 HG01257.hp2 others(16): Show HG00140.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01943.hp2 HG02027.hp1 HG02055.hp2 HG02056.hp1 HG02132.hp2 HG02273.hp2 HG03471.hp2 HG03486.hp1 HG03834.hp2 NA18956.hp1 NA18992.hp1 NA19002.hp1 NA19007.hp1 NA20300.hp1 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0011 a0001c0012 a0002c0003 a0004c0016	a0001c0001t0007 a0001c0001t0010 a0001c0001t0025 others(10): Show a0001c0001t0007 a0001c0001t0010 a0001c0001t0025 a0001c0002t0002 a0001c0002t0012 a0001c0002t0016 a0001c0004t0004 a0001c0004t0037 a0001c0011t0004 a0001c0012t0022 a0002c0003t0002 a0002c0003t0005 a0004c0016t0001	a0001c0001t0007g0043 a0001c0001t0010g0035 a0001c0001t0010g0109 others(16): Show a0001c0001t0007g0043 a0001c0001t0010g0035 a0001c0001t0010g0109 a0001c0001t0025g0060 a0001c0002t0002g0041 a0001c0002t0002g0046 a0001c0002t0012g0039 a0001c0002t0016g0045 a0001c0004t0004g0102 a0001c0004t0037g0098 a0001c0011t0004g0100 a0001c0012t0022g0135 a0002c0003t0002g0057 a0002c0003t0002g0079 a0002c0003t0002g0144 a0002c0003t0002g0157 a0002c0003t0005g0080 a0002c0003t0005g0081 a0004c0016t0001g0185	19	196	0.0969	10	c.469 others(27): Show c.469-4614_469-4605dupGTGTGTGTGT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20756851	C C	CCTTCCTT others(3): Show CCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0092 a0001c0006t0006g0092	1	196	0.0051	10	c.469 others(27): Show c.469-1744_469-1743insCTTCCTTCCT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	6/15			chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20784412	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01106.hp2 HG01943.hp2 others(9): Show HG00673.hp2 HG01106.hp2 HG01943.hp2 HG02027.hp2 HG02132.hp2 HG02559.hp1 HG03471.hp1 HG03491.hp2 HG04228.hp1 NA18906.hp1 NA18950.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0008 others(2): Show a0001c0001 a0001c0002 a0001c0008 a0001c0009 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0002t0001 a0001c0002t0002 a0001c0002t0012 a0001c0008t0011 a0001c0009t0004 a0002c0003t0013 a0002c0003t0020	a0001c0001t0001g0176 a0001c0001t0002g0042 a0001c0001t0003g0149 others(9): Show a0001c0001t0001g0176 a0001c0001t0002g0042 a0001c0001t0003g0149 a0001c0001t0010g0035 a0001c0002t0001g0108 a0001c0002t0002g0041 a0001c0002t0012g0039 a0001c0008t0011g0181 a0001c0009t0004g0019 a0001c0009t0004g0027 a0002c0003t0013g0037 a0002c0003t0020g0075	12	196	0.0612	10	c.638 others(27): Show c.638+3167_638+3176dupTTTTTTTTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20797760	C C	CTTTATTT others(3): Show CTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01934.hp2 HG02055.hp1 others(10): Show HG00639.hp1 HG01934.hp2 HG02055.hp1 HG02056.hp1 HG02132.hp2 HG02647.hp2 HG03831.hp2 HG04228.hp1 NA19007.hp1 NA19010.hp1 NA19043.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003	a0001c0001t0012 a0001c0001t0016 a0001c0001t0032 others(9): Show a0001c0001t0012 a0001c0001t0016 a0001c0001t0032 a0001c0002t0002 a0001c0002t0005 a0001c0002t0012 a0001c0002t0028 a0001c0002t0044 a0001c0005t0001 a0002c0003t0002 a0002c0003t0005 a0002c0003t0020	a0001c0001t0012g0163 a0001c0001t0016g0178 a0001c0001t0032g0196 others(10): Show a0001c0001t0012g0163 a0001c0001t0016g0178 a0001c0001t0032g0196 a0001c0002t0002g0041 a0001c0002t0002g0046 a0001c0002t0005g0064 a0001c0002t0012g0039 a0001c0002t0028g0117 a0001c0002t0044g0038 a0001c0005t0001g0009 a0002c0003t0002g0056 a0002c0003t0005g0081 a0002c0003t0020g0075	13	196	0.0663	10	c.638 others(29): Show c.638+16554_638+16563dupATTTTATTTT	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(3): Show GTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02630.hp1 HG02257.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0015 a0001c0004t0001 a0001c0001t0015 a0001c0004t0001	a0001c0001t0015g0186 a0001c0004t0001g0099 a0001c0001t0015g0186 a0001c0004t0001g0099	2	196	0.0102	10	c.638 others(29): Show c.638+17795_638+17804dupTTTTTTTTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20835481	T T	TTTGTCTT others(3): Show TTTGTCTTGTC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02109.hp2 HG03516.hp2 HG01109.hp1 HG02109.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0005 a0001c0002t0011 a0001c0005t0014 a0001c0001t0005 a0001c0002t0011 a0001c0005t0014	a0001c0001t0005g0137 a0001c0002t0011g0131 a0001c0005t0014g0093 a0001c0001t0005g0137 a0001c0002t0011g0131 a0001c0005t0014g0093	3	196	0.0153	10	c.639 others(29): Show c.639-10561_639-10552dupGTCTTGTCTT	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(3): Show TTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0170 a0001c0002t0003g0170	1	196	0.0051	10	c.639 others(27): Show c.639-8102_639-8093dupGTGTGTGTGT	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(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02630.hp2 HG03471.hp1 others(3): Show HG02559.hp1 HG02630.hp2 HG03471.hp1 HG03540.hp2 NA18978.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0008 others(1): Show a0001c0001 a0001c0005 a0001c0008 a0001c0009	a0001c0001t0002 a0001c0001t0027 a0001c0005t0007 others(2): Show a0001c0001t0002 a0001c0001t0027 a0001c0005t0007 a0001c0008t0011 a0001c0009t0004	a0001c0001t0002g0139 a0001c0001t0027g0180 a0001c0005t0007g0084 others(3): Show a0001c0001t0002g0139 a0001c0001t0027g0180 a0001c0005t0007g0084 a0001c0008t0011g0181 a0001c0009t0004g0027 a0001c0009t0004g0028	6	196	0.0306	10	c.743 others(29): Show c.743-42269_743-42260dupCACACACACA	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(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp2 HG00621.hp2 others(23): Show HG00140.hp1 HG00544.hp2 HG00621.hp2 HG00673.hp1 HG01257.hp2 HG01258.hp1 HG01361.hp2 HG01515.hp1 HG01978.hp2 HG02055.hp1 HG02056.hp1 HG02129.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04204.hp1 HG04228.hp1 NA18948.hp2 NA18950.hp1 NA18953.hp1 NA18966.hp2 NA18983.hp2 NA18994.hp2 NA19010.hp1 NA19082.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0010 others(2): Show a0001c0001 a0001c0002 a0001c0010 a0002c0003 a0002c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 others(15): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0023 a0001c0001t0032 a0001c0002t0002 a0001c0002t0003 a0001c0002t0013 a0001c0002t0044 a0001c0010t0007 a0002c0003t0002 a0002c0003t0003 a0002c0003t0005 a0002c0003t0013 a0002c0003t0020 a0002c0007t0002 a0002c0007t0005 a0002c0007t0038	a0001c0001t0002g0168 a0001c0001t0003g0113 a0001c0001t0010g0109 others(23): Show a0001c0001t0002g0168 a0001c0001t0003g0113 a0001c0001t0010g0109 a0001c0001t0023g0169 a0001c0001t0032g0196 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0003g0032 a0001c0002t0003g0073 a0001c0002t0003g0114 a0001c0002t0013g0034 a0001c0002t0044g0038 a0001c0010t0007g0044 a0002c0003t0002g0013 a0002c0003t0002g0056 a0002c0003t0002g0057 a0002c0003t0002g0144 a0002c0003t0002g0157 a0002c0003t0003g0107 a0002c0003t0005g0053 a0002c0003t0013g0037 a0002c0003t0020g0075 a0002c0007t0002g0048 a0002c0007t0005g0061 a0002c0007t0005g0062 a0002c0007t0038g0173	26	196	0.1327	10	c.743 others(29): Show c.743-10332_743-10323dupCACACACACA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20988182	A A	ATGTGTGT others(3): Show ATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp2 HG01192.hp1 others(20): Show HG00140.hp1 HG00639.hp2 HG01192.hp1 HG01934.hp2 HG01943.hp2 HG02056.hp2 HG02273.hp2 HG02559.hp1 HG02630.hp2 HG02723.hp1 HG02965.hp2 HG03017.hp1 HG03195.hp1 HG03453.hp2 HG03831.hp1 HG03831.hp2 HG06807.hp1 NA18957.hp1 NA18978.hp2 NA18990.hp2 NA18992.hp2 NA19043.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(6): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0008 a0001c0010 a0001c0012 a0002c0003 a0002c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(19): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0027 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0012 a0001c0002t0040 a0001c0005t0006 a0001c0005t0007 a0001c0006t0002 a0001c0006t0006 a0001c0008t0011 a0001c0010t0002 a0001c0012t0008 a0002c0003t0002 a0002c0007t0038	a0001c0001t0001g0003 a0001c0001t0003g0082 a0001c0001t0007g0043 others(20): Show a0001c0001t0001g0003 a0001c0001t0003g0082 a0001c0001t0007g0043 a0001c0001t0010g0035 a0001c0001t0010g0109 a0001c0001t0014g0067 a0001c0001t0015g0095 a0001c0001t0018g0005 a0001c0001t0027g0120 a0001c0002t0003g0066 a0001c0002t0005g0064 a0001c0002t0007g0187 a0001c0002t0012g0076 a0001c0002t0040g0125 a0001c0005t0006g0085 a0001c0005t0007g0084 a0001c0006t0002g0166 a0001c0006t0006g0092 a0001c0008t0011g0181 a0001c0010t0002g0106 a0001c0012t0008g0129 a0002c0003t0002g0056 a0002c0007t0038g0173	23	196	0.1174	10	c.910 others(29): Show c.910-12017_910-12008dupGTGTGTGTGT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21003343	A A	AATATATA others(3): Show AATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG01106.hp1 others(6): Show HG00099.hp2 HG00639.hp1 HG01106.hp1 HG01167.hp1 HG01515.hp2 HG01516.hp1 HG01934.hp2 HG03491.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0001t0042 a0001c0002t0005 others(4): Show a0001c0001t0012 a0001c0001t0042 a0001c0002t0005 a0001c0002t0006 a0001c0002t0009 a0001c0002t0028 a0001c0002t0049	a0001c0001t0012g0163 a0001c0001t0042g0142 a0001c0002t0005g0064 others(6): Show a0001c0001t0012g0163 a0001c0001t0042g0142 a0001c0002t0005g0064 a0001c0002t0006g0050 a0001c0002t0006g0052 a0001c0002t0006g0110 a0001c0002t0009g0183 a0001c0002t0028g0117 a0001c0002t0049g0059	9	196	0.0459	10	c.105 others(29): Show c.1055+2991_1055+3000dupTATATATATA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21003371	T T	TATATATA others(3): Show TATATATACAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0007 a0001c0010t0007	a0001c0010t0007g0044 a0001c0010t0007g0044	1	196	0.0051	10	c.105 others(29): Show c.1055+3000_1055+3001insTATATACACA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21072554	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02572.hp1 HG03195.hp1 others(2): Show HG01978.hp2 HG02572.hp1 HG03195.hp1 HG03490.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0014 a0001c0002t0001 a0001c0002t0013 others(1): Show a0001c0001t0014 a0001c0002t0001 a0001c0002t0013 a0001c0006t0006	a0001c0001t0014g0072 a0001c0002t0001g0148 a0001c0002t0013g0034 others(2): Show a0001c0001t0014g0072 a0001c0002t0001g0148 a0001c0002t0013g0034 a0001c0006t0006g0023 a0001c0006t0006g0092	5	196	0.0255	10	c.123 others(29): Show c.1236+7343_1236+7352dupAAAAAAAAAA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21079976	C C	CTGTGTGT others(3): Show CTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp2 others(44): Show HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00544.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG01106.hp2 HG01167.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01515.hp1 HG01516.hp1 HG01943.hp1 HG01943.hp2 HG02055.hp2 HG02056.hp2 HG02109.hp2 HG02132.hp2 HG02257.hp1 HG02280.hp2 HG02559.hp2 HG02622.hp2 HG02630.hp1 HG02818.hp1 HG02897.hp2 HG02922.hp1 HG03453.hp1 HG03491.hp1 HG03491.hp2 HG03579.hp1 HG04184.hp1 NA18957.hp2 NA18970.hp1 NA18978.hp2 NA18992.hp2 NA18994.hp1 NA19010.hp1 NA19085.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0010 a0001c0012 a0002c0003 a0003c0015 a0005c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0015 a0001c0001t0017 a0001c0001t0025 a0001c0001t0027 a0001c0001t0031 a0001c0001t0048 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0012 a0001c0002t0028 a0001c0002t0034 a0001c0002t0040 a0001c0002t0043 a0001c0002t0044 a0001c0004t0004 a0001c0010t0002 a0001c0010t0007 a0001c0010t0017 a0001c0012t0022 a0002c0003t0002 a0002c0003t0003 a0003c0015t0010 a0005c0014t0008	a0001c0001t0001g0070 a0001c0001t0001g0104 a0001c0001t0001g0126 others(44): Show a0001c0001t0001g0070 a0001c0001t0001g0104 a0001c0001t0001g0126 a0001c0001t0001g0176 a0001c0001t0001g0188 a0001c0001t0002g0042 a0001c0001t0002g0141 a0001c0001t0002g0155 a0001c0001t0002g0172 a0001c0001t0003g0149 a0001c0001t0003g0156 a0001c0001t0004g0083 a0001c0001t0005g0137 a0001c0001t0006g0011 a0001c0001t0010g0035 a0001c0001t0015g0186 a0001c0001t0015g0191 a0001c0001t0017g0112 a0001c0001t0025g0021 a0001c0001t0027g0120 a0001c0001t0031g0004 a0001c0001t0048g0143 a0001c0002t0002g0041 a0001c0002t0002g0195 a0001c0002t0003g0066 a0001c0002t0003g0170 a0001c0002t0003g0184 a0001c0002t0006g0050 a0001c0002t0006g0052 a0001c0002t0006g0110 a0001c0002t0012g0039 a0001c0002t0012g0076 a0001c0002t0028g0103 a0001c0002t0034g0182 a0001c0002t0040g0125 a0001c0002t0043g0190 a0001c0002t0044g0038 a0001c0004t0004g0133 a0001c0010t0002g0106 a0001c0010t0007g0044 a0001c0010t0017g0194 a0001c0012t0022g0135 a0002c0003t0002g0144 a0002c0003t0002g0157 a0002c0003t0003g0107 a0003c0015t0010g0171 a0005c0014t0008g0119	47	196	0.2398	10	c.123 others(31): Show c.1236+14772_1236+14781dupGTGTGTGTGT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21191992	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0170 a0001c0002t0003g0170	1	196	0.0051	10	c.130 others(29): Show c.1300-5998_1300-5989dupTTTTTTTTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKL1_chr14_50321265_50401881	50358636	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00438.hp1 others(101): Show HG00099.hp1 HG00140.hp1 HG00438.hp1 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp2 HG01346.hp1 HG01433.hp2 HG01496.hp1 HG01884.hp2 HG01928.hp2 HG01981.hp2 HG02040.hp2 HG02083.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02615.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp2 HG03017.hp1 HG03139.hp2 HG03239.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03831.hp1 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18612.hp2 NA18944.hp1 NA18953.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18964.hp1 NA18964.hp2 NA18971.hp2 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp2 NA18997.hp1 NA18997.hp2 NA19002.hp2 NA19005.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA20129.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0007 a0001c0001 a0002c0002 a0007c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(41): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0024 a0001c0001t0026 a0001c0001t0031 a0001c0001t0032 a0001c0001t0037 a0001c0001t0062 a0001c0001t0070 a0001c0001t0084 a0001c0001t0085 a0001c0001t0087 a0001c0001t0099 a0001c0001t0106 a0001c0001t0108 a0001c0001t0112 a0001c0001t0113 a0001c0001t0118 a0001c0001t0119 a0001c0001t0121 a0001c0001t0125 a0001c0001t0130 a0001c0001t0144 a0002c0002t0005 a0002c0002t0007 a0002c0002t0009 a0002c0002t0013 a0002c0002t0027 a0002c0002t0028 a0002c0002t0038 a0002c0002t0041 a0002c0002t0101 a0002c0002t0126 a0002c0002t0134 a0002c0002t0142 a0007c0007t0145	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(100): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0002g0182 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0200 a0001c0001t0002g0202 a0001c0001t0002g0204 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0215 a0001c0001t0002g0217 a0001c0001t0004g0115 a0001c0001t0004g0120 a0001c0001t0004g0134 a0001c0001t0006g0239 a0001c0001t0006g0252 a0001c0001t0011g0271 a0001c0001t0011g0282 a0001c0001t0011g0294 a0001c0001t0011g0297 a0001c0001t0012g0057 a0001c0001t0012g0065 a0001c0001t0014g0111 a0001c0001t0014g0112 a0001c0001t0017g0166 a0001c0001t0017g0167 a0001c0001t0017g0168 a0001c0001t0018g0008 a0001c0001t0018g0011 a0001c0001t0019g0190 a0001c0001t0019g0199 a0001c0001t0024g0101 a0001c0001t0026g0242 a0001c0001t0031g0091 a0001c0001t0031g0093 a0001c0001t0032g0094 a0001c0001t0037g0232 a0001c0001t0037g0233 a0001c0001t0062g0129 a0001c0001t0070g0124 a0001c0001t0084g0161 a0001c0001t0085g0006 a0001c0001t0087g0165 a0001c0001t0099g0031 a0001c0001t0106g0092 a0001c0001t0108g0097 a0001c0001t0112g0178 a0001c0001t0113g0206 a0001c0001t0118g0201 a0001c0001t0119g0180 a0001c0001t0121g0179 a0001c0001t0125g0231 a0001c0001t0130g0269 a0001c0001t0144g0303 a0002c0002t0005g0025 a0002c0002t0005g0039 a0002c0002t0005g0049 a0002c0002t0005g0051 a0002c0002t0005g0063 a0002c0002t0005g0064 a0002c0002t0007g0069 a0002c0002t0007g0074 a0002c0002t0007g0075 a0002c0002t0007g0086 a0002c0002t0009g0015 a0002c0002t0009g0038 a0002c0002t0009g0040 a0002c0002t0009g0050 a0002c0002t0009g0055 a0002c0002t0013g0268 a0002c0002t0027g0007 a0002c0002t0028g0068 a0002c0002t0028g0076 a0002c0002t0038g0284 a0002c0002t0041g0276 a0002c0002t0041g0277 a0002c0002t0101g0024 a0002c0002t0126g0226 a0002c0002t0134g0296 a0002c0002t0142g0302 a0007c0007t0145g0304	104	306	0.3399	10	c.290 others(25): Show c.290+382_290+391dupAAAAAAAAAA	CDKL1	ENSG00000100490.10	transcript	ENST00000395834.6	protein_coding	3/9			chr14	TogoVar
CDKL1_chr14_50321265_50401881	50360786	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0111 a0001c0001t0014g0111	1	306	0.0033	10	c.169 others(27): Show c.169-1647_169-1638dupCACACACACA	CDKL1	ENSG00000100490.10	transcript	ENST00000395834.6	protein_coding	2/9			chr14	TogoVar
CDKL3_chr5_134293424_134372171	134296782	T T	TACACACA others(3): Show TACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00642.hp1 HG01257.hp2 others(3): Show HG00323.hp2 HG00642.hp1 HG01257.hp2 HG01258.hp2 HG01981.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0028 a0001c0001t0001g0042 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0028 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0047	6	210	0.0286	10	c.18 others(21): Show c.1859_*1868dupGTGTGTGTGT	CDKL3	ENSG00000006837.12	transcript	ENST00000265334.9	protein_coding		1641		chr5	TogoVar
CDKL3_chr5_134293424_134372171	134326827	A A	ATATGTGT others(3): Show ATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	210	0.0048	10	c.540 others(27): Show c.540-4925_540-4924insCACACACATA	CDKL3	ENSG00000006837.12	transcript	ENST00000265334.9	protein_coding	4/12			chr5	TogoVar
CDKL4_chr2_39170646_39248970	39185166	G G	GTATATAT others(3): Show GTATATATACA	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	10	c.736 others(25): Show c.736-520_736-519insTGTATATATA	CDKL4	ENSG00000205111.10	transcript	ENST00000451199.7	protein_coding	7/9			chr2	TogoVar
CDKL4_chr2_39170646_39248970	39185401	T T	TATATATA others(3): Show TATATATACAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA20129.hp1 HG02280.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0029 a0001c0001t0003g0041 a0001c0001t0003g0029 a0001c0001t0003g0041	2	290	0.0069	10	c.736 others(25): Show c.736-755_736-754insGTGTATATAT	CDKL4	ENSG00000205111.10	transcript	ENST00000451199.7	protein_coding	7/9			chr2	TogoVar
CDKL4_chr2_39170646_39248970	39202238	C C	CAAACAAA others(3): Show CAAACAAAACA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0011 a0001c0001t0006g0011	1	290	0.0035	10	c.454 others(27): Show c.454+2279_454+2288dupTGTTTTGTTT	CDKL4	ENSG00000205111.10	transcript	ENST00000451199.7	protein_coding	5/9			chr2	TogoVar
CDKL4_chr2_39170646_39248970	39213889	T T	TTTTTGTT others(3): Show TTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	290	0.0035	10	c.291 others(25): Show c.291-427_291-418dupCAAAACAAAA	CDKL4	ENSG00000205111.10	transcript	ENST00000451199.7	protein_coding	3/9			chr2	TogoVar
CDKL4_chr2_39170646_39248970	39240247	T T	TTAAAATA others(3): Show TTAAAATAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02976.hp2 HG03130.hp1 HG02055.hp1 HG02976.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0043 a0001c0001t0003g0051 a0001c0001t0003g0066 a0001c0001t0003g0043 a0001c0001t0003g0051 a0001c0001t0003g0066	3	290	0.0103	10	c.-57 others(27): Show c.-57+3614_-57+3623dupTTTTATTTTA	CDKL4	ENSG00000205111.10	transcript	ENST00000451199.7	protein_coding	1/9			chr2	TogoVar
CDKL5_chrX_18420608_18645196	18442467	T T	TTTTTGTT others(3): Show TTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	192	0.0052	10	c.-16 others(31): Show c.-163+16808_-163+16817dupTTTTGTTTTG	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	1/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18509197	G G	GCACACAC others(3): Show GCACACACACA	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA18965.hp1 HG02717.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0025 a0001c0001t0023 a0001c0001t0025	a0001c0001t0023g0021 a0001c0001t0025g0030 a0001c0001t0023g0021 a0001c0001t0025g0030	2	192	0.0104	10	c.65- others(25): Show c.65-1583_65-1574dupACACACACAC	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	2/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18509197	G G	GCACGCAC others(3): Show GCACGCACACA	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0138 a0001c0001t0041g0138	1	192	0.0052	10	c.65- others(25): Show c.65-1620_65-1619insGCACACACAC	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(3): Show ACGCGCGCGCG	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0173 a0001c0001t0010g0173	1	192	0.0052	10	c.65- others(25): Show c.65-1620_65-1619insGCGCGCGCGC	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	2/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18606174	T T	TCACACAC others(3): Show TCACACACACA	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02976.hp2 HG02293.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0032 a0001c0002t0012 a0001c0002t0032	a0001c0002t0012g0002 a0001c0002t0032g0003 a0001c0002t0012g0002 a0001c0002t0032g0003	2	192	0.0104	10	c.194 others(29): Show c.1944+1333_1944+1342dupCACACACACA	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	12/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18626661	C C	CCTCTCTC others(3): Show CCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02027.hp1 HG02165.hp2 others(2): Show HG01256.hp1 HG02027.hp1 HG02165.hp2 HG03710.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0001 a0001c0001t0002 a0001c0001t0008	a0001c0001t0001g0122 a0001c0001t0001g0136 a0001c0001t0002g0010 others(2): Show a0001c0001t0001g0122 a0001c0001t0001g0136 a0001c0001t0002g0010 a0001c0001t0002g0141 a0001c0001t0008g0118	5	192	0.0260	10	c.249 others(29): Show c.2496+1468_2496+1477dupTCTCTCTCTC	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	17/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKN1A_chr6_36673714_36692332	36680307	C C	CGTGTGTG others(3): Show CGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01175.hp1 HG01256.hp1 others(11): Show HG00408.hp2 HG01175.hp1 HG01256.hp1 HG02258.hp2 HG02622.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG03704.hp2 HG03710.hp1 NA19030.hp2 NA19076.hp2 NA19085.hp2 NA19240.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0009 a0001c0001 a0002c0002 a0005c0009	a0001c0001t0001 a0001c0001t0005 a0001c0001t0014 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0002c0002t0002 a0005c0009t0001	a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 others(11): Show a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0005g0193 a0001c0001t0014g0200 a0001c0001t0015g0197 a0001c0001t0017g0305 a0002c0002t0002g0194 a0005c0009t0001g0372	14	454	0.0308	10	c.-6+ others(25): Show c.-6+1538_-6+1547dupGTGTGTGTGT	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(3): Show GTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01106.hp2 HG02056.hp1 others(5): Show HG00738.hp1 HG01106.hp2 HG02056.hp1 HG02280.hp1 HG02630.hp1 HG03927.hp2 NA18974.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0321 a0001c0001t0001g0346 a0001c0001t0001g0347 others(5): Show a0001c0001t0001g0321 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0376 a0002c0002t0001g0344 a0002c0002t0001g0345 a0002c0002t0002g0349	8	454	0.0176	10	c.-6+ others(25): Show c.-6+1547_-6+1548insGTGTCTGTGT	CDKN1A	ENSG00000124762.14	transcript	ENST00000244741.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKN1A_chr6_36673714_36692332	36681334	T T	TTCTTTCT others(3): Show TTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02735.hp2 NA18956.hp2 others(2): Show HG00639.hp1 HG02735.hp2 NA18956.hp2 NA18963.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0066 a0001c0001t0001g0146 a0001c0001t0001g0234 others(2): Show a0001c0001t0001g0066 a0001c0001t0001g0146 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0007t0001g0270	5	454	0.0110	10	c.-6+ others(25): Show c.-6+2537_-6+2538insCTTTCTTTCT	CDKN1A	ENSG00000124762.14	transcript	ENST00000244741.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKN1B_chr12_12712368_12727369	12719376	T T	TACATGAT others(3): Show TACATGATTAA	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	442	0.0023	10	c.8+ others(23): Show c.8+423_*8+432dupACATGATTAA	CDKN1B	ENSG00000111276.12	transcript	ENST00000228872.9	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
CDKN1B_chr12_12712368_12727369	12723287	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0005 a0002c0002t0004g0005	1	442	0.0023	10	c.22 others(21): Show c.2260_*2261insTTTTTTTTTT	CDKN1B	ENSG00000111276.12	transcript	ENST00000228872.9	protein_coding		919		chr12	TogoVar
CDKN2AIPNL_chr5_134397065_134416881	134407256	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG01975.hp1 others(12): Show HG01516.hp1 HG01517.hp2 HG01975.hp1 HG02040.hp1 HG02572.hp1 HG02602.hp2 HG02717.hp1 HG02896.hp2 HG02976.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 NA18948.hp1 NA18986.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0007 a0001c0001t0001g0092 a0001c0001t0001g0118 others(2): Show a0001c0001t0001g0007 a0001c0001t0001g0092 a0001c0001t0001g0118 a0001c0001t0001g0138 a0001c0001t0002g0131	15	380	0.0395	10	c.339 others(27): Show c.339+2637_339+2646dupGTGTGTGTGT	CDKN2AIPNL	ENSG00000237190.4	transcript	ENST00000458198.3	protein_coding	2/2			chr5	TogoVar
CDKN2AIPNL_chr5_134397065_134416881	134409567	G G	GTTAGTTA others(3): Show GTTAGTTACTC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02486.hp1 HG02615.hp1 others(2): Show HG00741.hp1 HG02486.hp1 HG02615.hp1 HG02717.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0131 a0001c0001t0002g0132 others(2): Show a0001c0001t0002g0043 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134	5	380	0.0132	10	c.339 others(25): Show c.339+335_339+336insGAGTAACTAA	CDKN2AIPNL	ENSG00000237190.4	transcript	ENST00000458198.3	protein_coding	2/2			chr5	TogoVar
CDKN2A_chr9_21962752_21979857	21971575	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03942.hp2 HG02886.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0081 a0001c0001t0002g0113 a0001c0001t0001g0081 a0001c0001t0002g0113	2	416	0.0048	10	c.151 others(25): Show c.151-377_151-368dupAAAAAAAAAA	CDKN2A	ENSG00000147889.18	transcript	ENST00000304494.10	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21971575	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03942.hp2 HG02886.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0280 a0001c0001t0002g0288 a0001c0001t0001g0280 a0001c0001t0002g0288	2	404	0.0050	10	c.194 others(25): Show c.194-377_194-368dupAAAAAAAAAA	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21981030	A A	ATATATAC others(3): Show ATATATACACG	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0092 a0001c0001t0001g0041 a0001c0001t0001g0092	2	404	0.0050	10	c.194 others(27): Show c.194-9823_194-9822insCGTGTATATA	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21981073	T T	TATATATA others(3): Show TATATATATAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00733.hp1 HG01109.hp2 others(8): Show HG00639.hp1 HG00733.hp1 HG01109.hp2 HG01175.hp1 HG01256.hp1 HG01516.hp2 HG03130.hp2 HG03490.hp1 HG03492.hp2 HG04199.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0366 others(6): Show a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0366 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0001t0001g0375 a0001c0001t0007g0367 a0001c0001t0007g0374	11	404	0.0272	10	c.194 others(27): Show c.194-9866_194-9865insGTATATATAT	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21982278	T T	TCTTCCCA others(3): Show TCTTCCCAAGA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	404	0.0025	10	c.194 others(29): Show c.194-11080_194-11071dupTCTTGGGAAG	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21987396	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01175.hp1 HG01496.hp2 others(4): Show HG01109.hp2 HG01175.hp1 HG01496.hp2 HG02723.hp1 HG03490.hp1 HG03492.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0007 a0001c0001t0001g0090 a0001c0001t0001g0371 others(3): Show a0001c0001t0001g0007 a0001c0001t0001g0090 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0375 a0001c0001t0002g0356	7	404	0.0173	10	c.193 others(27): Show c.193+6733_193+6742dupGTGTGTGTGT	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21990611	T T	TGAGAGAG others(3): Show TGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01168.hp2 HG01175.hp2 others(11): Show HG00323.hp1 HG01168.hp2 HG01175.hp2 HG01496.hp1 HG01934.hp2 HG02258.hp2 HG02602.hp2 HG02622.hp1 HG03098.hp1 HG03942.hp2 HG04184.hp2 NA18951.hp1 NA19056.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0230 others(10): Show a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0230 a0001c0001t0001g0361 a0001c0001t0001g0376 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0003g0004 a0001c0001t0003g0234	14	404	0.0347	10	c.193 others(27): Show c.193+3518_193+3527dupTCTCTCTCTC	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2B_chr9_21997903_22014305	22005112	A A	ATGTGTGT others(3): Show ATGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18942.hp1 NA18946.hp1 NA18951.hp1 others(5): Show NA18942.hp1 NA18946.hp1 NA18951.hp1 NA18959.hp1 NA18971.hp2 NA19000.hp2 NA19004.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0014 a0001c0001t0012g0014	8	416	0.0192	10	c.86 others(19): Show c.865_*874dupCACACACACA	CDKN2B	ENSG00000147883.12	transcript	ENST00000276925.7	protein_coding	2/2	874		chr9	TogoVar
CDKN2D_chr19_10561460_10573979	10570547	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG01109.hp1 HG01346.hp2 others(22): Show HG00621.hp1 HG01109.hp1 HG01346.hp2 HG01496.hp1 HG02080.hp1 HG02148.hp2 HG02165.hp2 HG02300.hp1 HG02818.hp1 HG02922.hp2 HG03098.hp2 HG03139.hp2 HG03471.hp1 HG03516.hp1 HG03669.hp2 HG04199.hp2 NA18941.hp1 NA18952.hp1 NA18956.hp2 NA18962.hp1 NA18977.hp2 NA18993.hp2 NA18998.hp1 NA19005.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	25	410	0.0610	10	c.-18 others(21): Show c.-1895_-1894insTTTTTTTTTT	CDKN2D	ENSG00000129355.7	transcript	ENST00000393599.3	protein_coding		1569		chr19	TogoVar
CDKN3_chr14_54392007_54425218	54400237	T T	TATAATAT others(3): Show TATAATATAGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(270): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02109.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18959.hp2 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19079.hp2 NA19081.hp2 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 a0001c0001t0001 a0002c0002t0001 a0004c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(128): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0002c0002t0001g0128 a0004c0004t0001g0006	273	420	0.6500	10	c.92+ others(23): Show c.92+265_92+266insTATAGAATAA	CDKN3	ENSG00000100526.21	transcript	ENST00000335183.11	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
CDKN3_chr14_54392007_54425218	54400238	A A	ATAATATA others(3): Show ATAATATAGAG	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18975.hp2 NA18984.hp2 others(2): Show NA18961.hp2 NA18975.hp2 NA18984.hp2 NA19003.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0030 a0001c0001t0001g0181 a0001c0001t0001g0182	5	420	0.0119	10	c.92+ others(23): Show c.92+265_92+266insTATAGAGTAA	CDKN3	ENSG00000100526.21	transcript	ENST00000335183.11	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
CDKN3_chr14_54392007_54425218	54414999	C C	CTACAATA others(3): Show CTACAATACAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	420	0.0024	10	c.417 others(25): Show c.417-885_417-876dupATACAATACA	CDKN3	ENSG00000100526.21	transcript	ENST00000335183.11	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr14	TogoVar

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