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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CDKAL1_chr6_20529457_21237404	20837744	T T	TATTATAA others(5): Show TATTATAATAATA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03453.hp1 HG03486.hp2 HG01496.hp2 HG03453.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0005g0189 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0005g0189	3	196	0.0153	12	c.639 others(29): Show c.639-8329_639-8328insTATAATAATAAT		CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	8/15					INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20848279	G G	GTTTTTTT others(5): Show GTTTTTTTGGTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0034	a0001c0002t0034g0182 a0001c0002t0034g0182	1	196	0.0051	12	c.742 others(29): Show c.742+2108_742+2109insGGTTTTTTTTTT		CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	9/15					INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20902358	C C	CACACACA others(5): Show CACACACACACAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0021 a0001c0001t0025g0021	1	196	0.0051	12	c.743 others(31): Show c.743-53060_743-53059insCACACACACAAA		CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	9/15					INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20913158	C C	CACACACA others(5): Show CACACACACACAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0033 a0001c0005t0004g0033	1	196	0.0051	12	c.743 others(31): Show c.743-42260_743-42259insCACACACACATA		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(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18992.hp1 NA19007.hp1 NA18956.hp1 NA18992.hp1 NA19007.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0005 a0002c0003t0002 a0002c0003t0005	a0002c0003t0002g0079 a0002c0003t0005g0080 a0002c0003t0005g0081 a0002c0003t0002g0079 a0002c0003t0005g0080 a0002c0003t0005g0081	3	196	0.0153	12	c.743 others(31): Show c.743-10334_743-10323dupCACACACACACA		CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	9/15					INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20980192	G G	GATAGATA others(5): Show GATAGATATAGAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01934.hp1 HG01943.hp1 others(17): Show HG01243.hp1 HG01934.hp1 HG01943.hp1 HG02109.hp2 HG02145.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02922.hp1 HG02922.hp2 HG03486.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 NA18948.hp1 NA18954.hp1 NA18957.hp1 NA18978.hp2 NA18994.hp1 NA19043.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0008 a0001c0009 a0002c0007 a0003c0015	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(17): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0024 a0001c0001t0031 a0001c0002t0002 a0001c0002t0003 a0001c0002t0012 a0001c0002t0013 a0001c0002t0041 a0001c0004t0037 a0001c0006t0006 a0001c0008t0004 a0001c0009t0004 a0002c0007t0029 a0003c0015t0010	a0001c0001t0001g0018 a0001c0001t0003g0082 a0001c0001t0004g0083 others(17): Show a0001c0001t0001g0018 a0001c0001t0003g0082 a0001c0001t0004g0083 a0001c0001t0005g0137 a0001c0001t0014g0067 a0001c0001t0015g0191 a0001c0001t0017g0112 a0001c0001t0024g0158 a0001c0001t0031g0004 a0001c0002t0002g0195 a0001c0002t0003g0066 a0001c0002t0012g0151 a0001c0002t0013g0118 a0001c0002t0041g0012 a0001c0004t0037g0098 a0001c0006t0006g0023 a0001c0008t0004g0105 a0001c0009t0004g0028 a0002c0007t0029g0014 a0003c0015t0010g0171	20	196	0.1020	12	c.910 others(31): Show c.910-20001_910-19990dupGATATAGATATA		CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20982048	C C	CTTATTTA others(5): Show CTTATTTATTTAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0097 a0001c0001t0004g0097	1	196	0.0051	12	c.910 others(31): Show c.910-18154_910-18143dupTTATTTATTTAT		CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20988182	A A	ATGTGTGT others(5): Show ATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00609.hp2 HG00673.hp1 others(29): Show HG00099.hp1 HG00609.hp2 HG00673.hp1 HG01106.hp2 HG01243.hp1 HG01361.hp2 HG01515.hp1 HG01516.hp2 HG02027.hp2 HG02056.hp1 HG02129.hp1 HG02129.hp2 HG02572.hp2 HG02818.hp2 HG02922.hp2 HG03130.hp1 HG03139.hp1 HG03516.hp1 HG03704.hp2 HG03834.hp2 NA18948.hp1 NA18953.hp1 NA18954.hp1 NA18956.hp1 NA18956.hp2 NA18970.hp2 NA18983.hp1 NA18992.hp1 NA19005.hp1 NA19007.hp1 NA19082.hp1 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0008 others(3): Show a0001c0001 a0001c0002 a0001c0008 a0001c0011 a0002c0003 a0002c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(21): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0017 a0001c0001t0021 a0001c0001t0023 a0001c0001t0026 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0008 a0001c0002t0012 a0001c0002t0013 a0001c0002t0020 a0001c0002t0045 a0001c0008t0004 a0001c0011t0004 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 a0002c0003t0010 a0002c0007t0002	a0001c0001t0002g0168 a0001c0001t0003g0113 a0001c0001t0003g0149 others(29): Show a0001c0001t0002g0168 a0001c0001t0003g0113 a0001c0001t0003g0149 a0001c0001t0003g0156 a0001c0001t0008g0123 a0001c0001t0017g0112 a0001c0001t0021g0177 a0001c0001t0023g0169 a0001c0001t0026g0001 a0001c0002t0001g0108 a0001c0002t0001g0174 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0049 a0001c0002t0002g0063 a0001c0002t0003g0165 a0001c0002t0005g0175 a0001c0002t0008g0040 a0001c0002t0012g0151 a0001c0002t0013g0118 a0001c0002t0020g0116 a0001c0002t0045g0153 a0001c0008t0004g0105 a0001c0011t0004g0130 a0002c0003t0002g0057 a0002c0003t0002g0079 a0002c0003t0003g0107 a0002c0003t0004g0132 a0002c0003t0005g0080 a0002c0003t0005g0081 a0002c0003t0010g0134 a0002c0007t0002g0048	32	196	0.1633	12	c.910 others(31): Show c.910-12019_910-12008dupGTGTGTGTGTGT		CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21003371	T T	TATATATA others(5): Show TATATATACACAC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0043 a0001c0002t0043	a0001c0002t0043g0190 a0001c0002t0043g0190	1	196	0.0051	12	c.105 others(31): Show c.1055+3000_1055+3001insTATATACACACA		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(5): Show TATATATATACAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02056.hp2 NA18948.hp1 others(8): Show HG00609.hp2 HG02056.hp2 NA18948.hp1 NA18950.hp2 NA18953.hp1 NA18954.hp1 NA18956.hp2 NA18970.hp1 NA18994.hp1 NA19007.hp2 NA19091.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0010 others(1): Show a0001c0001 a0001c0002 a0001c0010 a0003c0015	a0001c0001t0002 a0001c0001t0019 a0001c0001t0035 others(7): Show a0001c0001t0002 a0001c0001t0019 a0001c0001t0035 a0001c0002t0002 a0001c0002t0005 a0001c0002t0012 a0001c0002t0013 a0001c0002t0045 a0001c0010t0002 a0003c0015t0010	a0001c0001t0002g0155 a0001c0001t0019g0145 a0001c0001t0019g0147 others(8): Show a0001c0001t0002g0155 a0001c0001t0019g0145 a0001c0001t0019g0147 a0001c0001t0035g0160 a0001c0002t0002g0047 a0001c0002t0005g0175 a0001c0002t0012g0151 a0001c0002t0013g0118 a0001c0002t0045g0153 a0001c0010t0002g0106 a0003c0015t0010g0171	11	196	0.0561	12	c.105 others(31): Show c.1055+3000_1055+3001insTATATATACACA		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(5): Show TATATATATATAC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0166 a0001c0006t0002g0166	1	196	0.0051	12	c.105 others(31): Show c.1055+3000_1055+3001insTATATATATACA		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(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA19043.hp2 NA18954.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0013 a0001c0001t0003 a0001c0002t0013	a0001c0001t0003g0082 a0001c0002t0013g0122 a0001c0001t0003g0082 a0001c0002t0013g0122	2	196	0.0102	12	c.123 others(31): Show c.1236+7341_1236+7352dupAAAAAAAAAAAA		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(5): Show CTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01109.hp2 HG01358.hp2 others(19): Show HG00140.hp2 HG01109.hp2 HG01358.hp2 HG01515.hp2 HG01891.hp2 HG01934.hp2 HG02055.hp1 HG02145.hp1 HG02258.hp1 HG02300.hp2 HG02559.hp1 HG02647.hp2 HG03195.hp2 HG03453.hp2 HG03471.hp2 HG03831.hp2 HG03834.hp1 HG04204.hp1 HG04228.hp1 NA20300.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0002c0003 a0004c0016	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(15): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0032 a0001c0001t0042 a0001c0002t0003 a0001c0002t0005 a0001c0002t0028 a0001c0004t0001 a0001c0004t0007 a0001c0004t0018 a0001c0005t0001 a0001c0005t0021 a0001c0006t0009 a0001c0008t0011 a0002c0003t0002 a0002c0003t0020 a0004c0016t0001	a0001c0001t0001g0003 a0001c0001t0001g0136 a0001c0001t0003g0162 others(19): Show a0001c0001t0001g0003 a0001c0001t0001g0136 a0001c0001t0003g0162 a0001c0001t0008g0016 a0001c0001t0032g0196 a0001c0001t0042g0142 a0001c0002t0003g0140 a0001c0002t0003g0150 a0001c0002t0005g0064 a0001c0002t0028g0117 a0001c0004t0001g0127 a0001c0004t0001g0128 a0001c0004t0007g0022 a0001c0004t0018g0017 a0001c0005t0001g0009 a0001c0005t0021g0026 a0001c0006t0009g0078 a0001c0008t0011g0181 a0002c0003t0002g0013 a0002c0003t0002g0056 a0002c0003t0020g0075 a0004c0016t0001g0185	22	196	0.1122	12	c.123 others(33): Show c.1236+14770_1236+14781dupGTGTGTGTGTGT		CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21138235	G G	GTATGTGT others(5): Show GTATGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0158 a0001c0001t0024g0158	1	196	0.0051	12	c.129 others(33): Show c.1299+29773_1299+29774insATGTGTGTGTCT		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(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00639.hp2 others(7): Show HG00323.hp2 HG00408.hp1 HG00639.hp2 HG00735.hp1 HG01175.hp1 HG01243.hp1 HG01891.hp2 HG03130.hp2 HG03516.hp1 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0022 a0001c0001t0044 others(6): Show a0001c0001t0001 a0001c0001t0022 a0001c0001t0044 a0001c0001t0048 a0001c0001t0090 a0001c0001t0117 a0001c0001t0135 a0002c0002t0105 a0002c0002t0139	a0001c0001t0001g0035 a0001c0001t0022g0289 a0001c0001t0022g0295 others(7): Show a0001c0001t0001g0035 a0001c0001t0022g0289 a0001c0001t0022g0295 a0001c0001t0044g0260 a0001c0001t0048g0105 a0001c0001t0090g0171 a0001c0001t0117g0207 a0001c0001t0135g0270 a0002c0002t0105g0090 a0002c0002t0139g0258	10	306	0.0327	12	c.290 others(27): Show c.290+380_290+391dupAAAAAAAAAAAA		CDKL1	ENSG00000100490.10	transcript	ENST00000395834.6	protein_coding	3/9						chr14	TogoVar
CDKL2_chr4_75571496_75635528	75595976	A A	AGAAGGAA others(5): Show AGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02622.hp1 NA18980.hp1 others(1): Show HG02273.hp2 HG02622.hp1 NA18980.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0005 a0001c0001t0006	a0001c0001t0005g0272 a0001c0001t0005g0283 a0001c0001t0005g0291 others(1): Show a0001c0001t0005g0272 a0001c0001t0005g0283 a0001c0001t0005g0291 a0001c0001t0006g0178	4	306	0.0131	12	c.141 others(29): Show c.1416+259_1416+270dupCTTCCTTCCTTC		CDKL2	ENSG00000138769.11	transcript	ENST00000307465.9	protein_coding	10/13						chr4	TogoVar
CDKL3_chr5_134293424_134372171	134296782	T T	TACACACA others(5): Show TACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG06807.hp1 HG02572.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0075 a0001c0001t0002g0077	2	210	0.0095	12	c.18 others(23): Show c.1857_*1868dupGTGTGTGTGTGT		CDKL3	ENSG00000006837.12	transcript	ENST00000265334.9	protein_coding					1641		chr5	TogoVar
CDKL3_chr5_134293424_134372171	134326825	A A	ATATATGT others(5): Show ATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02523.hp2 HG02886.hp1 HG00642.hp2 HG02523.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0101 a0001c0001t0001g0141 a0001c0001t0001g0072 a0001c0001t0001g0101 a0001c0001t0001g0141	3	210	0.0143	12	c.540 others(29): Show c.540-4923_540-4922insCACACACATATA		CDKL3	ENSG00000006837.12	transcript	ENST00000265334.9	protein_coding	4/12						chr5	TogoVar
CDKL3_chr5_134293424_134372171	134326827	A A	ATATGTGT others(5): Show ATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	210	0.0048	12	c.540 others(29): Show c.540-4925_540-4924insCACACACACATA		CDKL3	ENSG00000006837.12	transcript	ENST00000265334.9	protein_coding	4/12						chr5	TogoVar
CDKL4_chr2_39170646_39248970	39219404	C C	CTTATTTA others(5): Show CTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02922.hp2 HG02896.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0011 a0001c0001t0006g0073 a0001c0001t0006g0011 a0001c0001t0006g0073	2	290	0.0069	12	c.291 others(29): Show c.291-5944_291-5933dupATAAATAAATAA		CDKL4	ENSG00000205111.10	transcript	ENST00000451199.7	protein_coding	3/9						chr2	TogoVar
CDKL5_chrX_18420608_18645196	18481320	G G	GTTTCTTT others(5): Show GTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00673.hp1 HG01257.hp2 others(7): Show HG00544.hp2 HG00673.hp1 HG01257.hp2 HG01258.hp1 HG02027.hp1 HG02451.hp1 HG02523.hp1 NA18941.hp2 NA18957.hp1 NA18974.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0022 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0022 a0001c0001t0030 a0001c0001t0033 a0004c0003t0036	a0001c0001t0001g0122 a0001c0001t0004g0166 a0001c0001t0004g0176 others(7): Show a0001c0001t0001g0122 a0001c0001t0004g0166 a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0022g0065 a0001c0001t0030g0174 a0001c0001t0033g0168 a0004c0003t0036g0008	10	192	0.0521	12	c.-16 others(33): Show c.-162-25575_-162-25564dupCTTTCTTTCTTT		CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	1/17					INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18509192	A A	AACGCACA others(5): Show AACGCACACACAC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0047 a0001c0001t0046g0047	1	192	0.0052	12	c.65- others(27): Show c.65-1626_65-1625insGCACACACACAC		CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	2/17					INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18509197	G G	GCACACAC others(5): Show GCACACACACACA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18982.hp1 NA19077.hp1 others(2): Show NA18747.hp1 NA18982.hp1 NA19077.hp1 NA19081.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0042 a0001c0001t0001 a0001c0001t0002 a0001c0001t0042	a0001c0001t0001g0113 a0001c0001t0002g0023 a0001c0001t0002g0031 others(2): Show a0001c0001t0001g0113 a0001c0001t0002g0023 a0001c0001t0002g0031 a0001c0001t0002g0039 a0001c0001t0042g0178	5	192	0.0260	12	c.65- others(27): Show c.65-1585_65-1574dupACACACACACAC		CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	2/17					INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18509245	A A	ACACACAC others(5): Show ACACACACACACC	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0009 a0001c0001t0007g0009	1	192	0.0052	12	c.65- others(27): Show c.65-1574_65-1573insACACACACACCC		CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	2/17					INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18560776	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0005 a0001c0001t0061g0005	1	192	0.0052	12	c.100 others(29): Show c.100-3688_100-3677dupACACACACACAC		CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	3/17					INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18606174	T T	TCACACAC others(5): Show TCACACACACACA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02630.hp1 HG01070.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0002t0012 a0001c0001t0012 a0001c0002t0012	a0001c0001t0012g0001 a0001c0002t0012g0004 a0001c0001t0012g0001 a0001c0002t0012g0004	2	192	0.0104	12	c.194 others(31): Show c.1944+1331_1944+1342dupCACACACACACA		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(5): Show CCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02523.hp2 HG02723.hp1 others(5): Show HG01243.hp1 HG02523.hp2 HG02723.hp1 HG02922.hp1 HG03540.hp2 NA18906.hp2 NA19006.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0014 others(4): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0014 a0001c0001t0021 a0001c0001t0034 a0001c0001t0035 a0001c0001t0045	a0001c0001t0001g0140 a0001c0001t0001g0164 a0001c0001t0013g0013 others(5): Show a0001c0001t0001g0140 a0001c0001t0001g0164 a0001c0001t0013g0013 a0001c0001t0014g0103 a0001c0001t0021g0112 a0001c0001t0034g0015 a0001c0001t0035g0148 a0001c0001t0045g0082	8	192	0.0417	12	c.249 others(31): Show c.2496+1466_2496+1477dupTCTCTCTCTCTC		CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	17/17					INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18626723	T T	TCTCTCTC others(5): Show TCTCTCTCTCCCC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0152 a0001c0001t0006g0152	1	192	0.0052	12	c.249 others(31): Show c.2496+1477_2496+1478insTCTCTCTCCCCC		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(5): Show CGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01361.hp1 others(8): Show HG01070.hp2 HG01071.hp1 HG01361.hp1 HG01891.hp1 HG02055.hp1 HG02165.hp2 HG02486.hp1 HG02523.hp1 HG03130.hp2 NA18947.hp2 NA18948.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0002c0002t0002 a0001c0001t0001 a0001c0001t0005 a0002c0002t0002	a0001c0001t0001g0045 a0001c0001t0001g0207 a0001c0001t0001g0208 others(7): Show a0001c0001t0001g0045 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0316 a0001c0001t0005g0203 a0001c0001t0005g0204 a0002c0002t0002g0205 a0002c0002t0002g0206	11	454	0.0242	12	c.-6+ others(27): Show c.-6+1536_-6+1547dupGTGTGTGTGTGT		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(5): Show GTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01069.hp1 HG01070.hp1 others(27): Show HG00408.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG02647.hp1 HG02717.hp1 HG02809.hp2 HG02922.hp1 HG03098.hp2 HG03239.hp1 HG03579.hp2 HG03669.hp1 HG03927.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 NA18522.hp1 NA18939.hp1 NA18951.hp2 NA18983.hp1 NA18993.hp2 NA19009.hp2 NA19043.hp1 NA19058.hp1 NA19062.hp2 NA19077.hp2 NA19084.hp1 NA19087.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0057 others(20): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0377 a0002c0002t0001g0350 a0002c0002t0001g0351 a0002c0002t0001g0353 a0002c0002t0002g0352	30	454	0.0661	12	c.-6+ others(27): Show c.-6+1547_-6+1548insGTGTGTCTGTGT		CDKN1A	ENSG00000124762.14	transcript	ENST00000244741.10	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKN1A_chr6_36673714_36692332	36681264	T T	TTTTCTTT others(5): Show TTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02004.hp1 HG02148.hp1 others(13): Show HG01358.hp2 HG02004.hp1 HG02148.hp1 HG02257.hp2 HG02683.hp2 HG03710.hp1 NA18947.hp2 NA18952.hp1 NA18963.hp2 NA18980.hp2 NA19057.hp1 NA19057.hp2 NA19065.hp2 NA19070.hp1 NA19079.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0011 a0001c0001t0001g0039 a0001c0001t0001g0143 others(10): Show a0001c0001t0001g0011 a0001c0001t0001g0039 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0208 a0001c0001t0001g0225 a0001c0001t0001g0229 a0001c0001t0001g0303 a0001c0001t0001g0323 a0001c0001t0001g0379 a0001c0001t0015g0197	16	454	0.0352	12	c.-6+ others(27): Show c.-6+2470_-6+2481dupCTTTCTTTCTTT		CDKN1A	ENSG00000124762.14	transcript	ENST00000244741.10	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKN1A_chr6_36673714_36692332	36681273	T T	TCTCTTTC others(5): Show TCTCTTTCTTTCC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00738.hp2 HG01109.hp1 others(41): Show HG00438.hp2 HG00738.hp2 HG01109.hp1 HG01261.hp2 HG01358.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02280.hp1 HG02300.hp1 HG02486.hp1 HG02723.hp1 HG02818.hp1 HG02886.hp2 HG03130.hp1 HG03579.hp2 HG03688.hp1 HG03927.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 NA18747.hp2 NA18945.hp1 NA18947.hp1 NA18949.hp1 NA18953.hp2 NA18959.hp2 NA18966.hp2 NA18977.hp2 NA18986.hp2 NA18987.hp2 NA18988.hp1 NA18993.hp1 NA19054.hp1 NA19074.hp1 NA19076.hp1 NA19078.hp1 NA19083.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 a0002c0002t0002 a0002c0002t0019	a0001c0001t0001g0263 a0001c0001t0001g0278 a0001c0001t0001g0281 others(35): Show a0001c0001t0001g0263 a0001c0001t0001g0278 a0001c0001t0001g0281 a0001c0001t0001g0318 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0343 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0366 a0001c0001t0001g0377 a0001c0001t0005g0203 a0002c0002t0001g0344 a0002c0002t0002g0002 a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0063 a0002c0002t0002g0068 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0158 a0002c0002t0002g0159 a0002c0002t0002g0160 a0002c0002t0019g0121	44	454	0.0969	12	c.-6+ others(27): Show c.-6+2475_-6+2476insCTCTTTCTTTCC		CDKN1A	ENSG00000124762.14	transcript	ENST00000244741.10	protein_coding	1/2						chr6	TogoVar
CDKN1A_chr6_36673714_36692332	36681361	T T	TTTTCTTT others(5): Show TTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01255.hp2 HG02148.hp1 others(11): Show HG01109.hp2 HG01255.hp2 HG02148.hp1 HG02258.hp2 HG02896.hp2 HG03516.hp1 NA18940.hp2 NA18956.hp2 NA18967.hp1 NA18982.hp2 NA19057.hp2 NA19064.hp2 NA19079.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0039 a0001c0001t0001g0077 a0001c0001t0001g0176 others(10): Show a0001c0001t0001g0039 a0001c0001t0001g0077 a0001c0001t0001g0176 a0001c0001t0001g0183 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0235 a0001c0001t0001g0240 a0001c0001t0001g0301 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0323 a0001c0001t0017g0305	14	454	0.0308	12	c.-6+ others(27): Show c.-6+2598_-6+2609dupTCTTTCTTTCTT		CDKN1A	ENSG00000124762.14	transcript	ENST00000244741.10	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKN1A_chr6_36673714_36692332	36681411	T T	TTCTTTCT others(5): Show TTCTTTCTCTTTC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02015.hp2 HG02027.hp1 others(12): Show HG01070.hp1 HG02015.hp2 HG02027.hp1 HG02132.hp1 HG02922.hp2 HG03041.hp2 HG03195.hp2 HG04199.hp1 NA18612.hp2 NA18944.hp2 NA18960.hp2 NA18999.hp2 NA19079.hp1 NA19087.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0005 a0002c0002t0002 a0002c0002t0004	a0001c0001t0001g0338 a0001c0001t0001g0354 a0001c0001t0001g0356 others(9): Show a0001c0001t0001g0338 a0001c0001t0001g0354 a0001c0001t0001g0356 a0001c0001t0001g0362 a0001c0001t0005g0193 a0002c0002t0002g0002 a0002c0002t0002g0019 a0002c0002t0002g0075 a0002c0002t0002g0081 a0002c0002t0002g0093 a0002c0002t0002g0104 a0002c0002t0004g0060	15	454	0.0330	12	c.-6+ others(27): Show c.-6+2616_-6+2617insTTCTCTTTCTCT		CDKN1A	ENSG00000124762.14	transcript	ENST00000244741.10	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKN1B_chr12_12712368_12727369	12723287	A A	ATTTTTTT others(5): Show ATTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00609.hp1 others(16): Show HG00099.hp1 HG00140.hp1 HG00609.hp1 HG00642.hp2 HG01069.hp2 HG01257.hp2 HG01258.hp1 HG01928.hp1 HG01981.hp2 HG02004.hp2 HG02486.hp1 HG03017.hp1 HG03516.hp1 NA18942.hp2 NA18954.hp2 NA18971.hp2 NA18975.hp1 NA18983.hp2 NA18984.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0007 others(1): Show a0001c0001 a0001c0003 a0001c0007 a0002c0002	a0001c0001t0003 a0001c0001t0004 a0001c0003t0004 others(3): Show a0001c0001t0003 a0001c0001t0004 a0001c0003t0004 a0001c0007t0004 a0002c0002t0003 a0002c0002t0004	a0001c0001t0003g0006 a0001c0001t0004g0005 a0001c0003t0004g0005 others(4): Show a0001c0001t0003g0006 a0001c0001t0004g0005 a0001c0003t0004g0005 a0001c0007t0004g0005 a0002c0002t0003g0005 a0002c0002t0003g0035 a0002c0002t0004g0005	19	442	0.0430	12	c.22 others(23): Show c.2260_*2261insTTTTTTTTTTTT		CDKN1B	ENSG00000111276.12	transcript	ENST00000228872.9	protein_coding					919		chr12	TogoVar
CDKN1C_chr11_2878218_2890775	2884878	C C	CGGGGCCG others(5): Show CGGGGCCGGGGCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02015.hp2 HG02015.hp2	a0011 a0011	a0011c0018 a0011c0018	a0011c0018t0001 a0011c0018t0001	a0011c0018t0001g0038 a0011c0018t0001g0038	1	417	0.0024	12	c.567 others(19): Show c.567_578dupAGCCCCGGCCCC	p.Pro others(25): Show p.Pro193_Ala194insAlaProAlaPro	CDKN1C	ENSG00000129757.15	transcript	ENST00000440480.8	protein_coding	2/4	730/1773	578/918	193/305			chr11	TogoVar
CDKN2AIPNL_chr5_134397065_134416881	134407256	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01943.hp1 HG01981.hp1 others(4): Show HG01109.hp2 HG01943.hp1 HG01981.hp1 HG02273.hp2 HG03834.hp2 NA18965.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0008g0091 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0008g0091	7	380	0.0184	12	c.339 others(29): Show c.339+2635_339+2646dupGTGTGTGTGTGT		CDKN2AIPNL	ENSG00000237190.4	transcript	ENST00000458198.3	protein_coding	2/2						chr5	TogoVar
CDKN2A_chr9_21962752_21979857	21971575	A A	ATTTTTTT others(5): Show ATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01515.hp1 HG01517.hp2 others(17): Show HG01123.hp1 HG01515.hp1 HG01517.hp2 HG02145.hp1 HG02280.hp1 HG02615.hp1 HG02622.hp2 HG02723.hp2 HG02965.hp2 HG02976.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03688.hp2 HG04115.hp1 NA18946.hp1 NA19030.hp2 NA19054.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0112 a0001c0001t0003g0004 a0001c0001t0003g0080 a0001c0001t0002g0112 a0001c0001t0003g0004 a0001c0001t0003g0080	20	416	0.0481	12	c.151 others(27): Show c.151-379_151-368dupAAAAAAAAAAAA		CDKN2A	ENSG00000147889.18	transcript	ENST00000304494.10	protein_coding	1/2						chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21971575	A A	ATTTTTTT others(5): Show ATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01123.hp1 HG01515.hp1 others(20): Show HG00140.hp2 HG01123.hp1 HG01515.hp1 HG01517.hp2 HG02145.hp1 HG02280.hp1 HG02615.hp1 HG02622.hp2 HG02723.hp2 HG02965.hp2 HG02976.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03688.hp2 HG04115.hp1 HG06807.hp1 HG06807.hp2 NA18946.hp1 NA19030.hp2 NA19054.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0316 a0001c0001t0003g0002 a0001c0001t0003g0011 others(17): Show a0001c0001t0002g0316 a0001c0001t0003g0002 a0001c0001t0003g0011 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0122 a0001c0001t0003g0150 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0192 a0001c0001t0003g0233 a0001c0001t0003g0360 a0001c0001t0003g0369 a0001c0001t0003g0370	23	404	0.0569	12	c.194 others(27): Show c.194-379_194-368dupAAAAAAAAAAAA		CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2						chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21981026	A A	ATATATAT others(5): Show ATATATATATACG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	404	0.0025	12	c.194 others(29): Show c.194-9830_194-9819dupCGTATATATATA		CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2						chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21987396	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01256.hp1 HG03516.hp2 others(1): Show HG00639.hp1 HG01256.hp1 HG03516.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0012 a0001c0001t0001g0331 a0001c0001t0002g0344 a0001c0001t0001g0012 a0001c0001t0001g0331 a0001c0001t0002g0344	4	404	0.0099	12	c.193 others(29): Show c.193+6731_193+6742dupGTGTGTGTGTGT		CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2						chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21990611	T T	TGAGAGAG others(5): Show TGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00642.hp1 HG01071.hp2 others(22): Show HG00408.hp1 HG00642.hp1 HG01071.hp2 HG01167.hp2 HG01243.hp1 HG01358.hp1 HG02040.hp2 HG02071.hp1 HG02132.hp2 HG02280.hp2 HG02486.hp2 HG02735.hp1 HG03130.hp1 HG03834.hp1 HG04204.hp1 HG04228.hp2 NA18612.hp2 NA18957.hp2 NA18959.hp2 NA18969.hp2 NA18978.hp2 NA18992.hp1 NA18994.hp1 NA19000.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0014 a0001c0001t0001g0064 a0001c0001t0001g0065 others(21): Show a0001c0001t0001g0014 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0199 a0001c0001t0001g0214 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0378 a0001c0001t0002g0010 a0001c0001t0002g0156 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0345 a0001c0001t0003g0056	25	404	0.0619	12	c.193 others(29): Show c.193+3516_193+3527dupTCTCTCTCTCTC		CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2						chr9	TogoVar
CDKN2D_chr19_10561460_10573979	10570547	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG03139.hp1 HG03710.hp2 others(6): Show HG01261.hp2 HG03139.hp1 HG03710.hp2 NA18967.hp2 NA18969.hp1 NA18980.hp2 NA18993.hp1 NA19007.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	9	410	0.0220	12	c.-18 others(23): Show c.-1895_-1894insTTTTTTTTTTTT		CDKN2D	ENSG00000129355.7	transcript	ENST00000393599.3	protein_coding					1569		chr19	TogoVar
CDNF_chr10_14814245_14843037	14826014	C C	CAGAAGCA others(5): Show CAGAAGCAGAAGA	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA19043.hp1 HG03139.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0089 a0001c0001t0001g0043 a0001c0001t0001g0089	2	418	0.0048	12	c.244 others(27): Show c.244-395_244-394insTCTTCTGCTTCT		CDNF	ENSG00000185267.10	transcript	ENST00000465530.2	protein_coding	2/3						chr10	TogoVar
CDNF_chr10_14814245_14843037	14826017	A A	AAGCAGAA others(5): Show AAGCAGAAGAAGG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02451.hp2 HG00642.hp1 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0212 a0001c0001t0001g0095 a0001c0001t0001g0212	2	418	0.0048	12	c.244 others(27): Show c.244-398_244-397insCCTTCTTCTGCT		CDNF	ENSG00000185267.10	transcript	ENST00000465530.2	protein_coding	2/3						chr10	TogoVar
CDNF_chr10_14814245_14843037	14826029	G G	GAGAAGAA others(5): Show GAGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02071.hp2 HG02165.hp1 others(6): Show HG01891.hp2 HG02071.hp2 HG02165.hp1 HG02258.hp2 HG02647.hp2 HG02922.hp1 NA18945.hp2 NA18991.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0152 a0001c0001t0001g0175 others(6): Show a0001c0001t0001g0100 a0001c0001t0001g0152 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0193 a0001c0001t0001g0214 a0001c0001t0001g0330 a0001c0001t0001g0339 a0001c0001t0001g0342	9	418	0.0215	12	c.244 others(27): Show c.244-421_244-410dupTCTTCTTCTTCT		CDNF	ENSG00000185267.10	transcript	ENST00000465530.2	protein_coding	2/3						chr10	TogoVar
CDNF_chr10_14814245_14843037	14826029	G G	GAGAAGGA others(5): Show GAGAAGGAGAAGA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	418	0.0024	12	c.244 others(27): Show c.244-410_244-409insTCTTCTCCTTCT		CDNF	ENSG00000185267.10	transcript	ENST00000465530.2	protein_coding	2/3						chr10	TogoVar
CDNF_chr10_14814245_14843037	14826095	A A	AAGAAGAA others(5): Show AAGAAGAAGAAGC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG04115.hp1 HG03831.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0333 a0001c0001t0001g0120 a0001c0001t0001g0333	2	418	0.0048	12	c.244 others(27): Show c.244-476_244-475insGCTTCTTCTTCT		CDNF	ENSG00000185267.10	transcript	ENST00000465530.2	protein_coding	2/3						chr10	TogoVar
CDO1_chr5_115799733_115821659	115804617	C C	CAACAAAA others(5): Show CAACAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02897.hp1 HG06807.hp2 HG02559.hp2 HG02897.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0030 a0001c0002t0002g0020 a0001c0001t0002g0030 a0001c0002t0002g0020	3	372	0.0081	12	c.81 others(21): Show c.815_*816insTTTTTTTTTGTT		CDO1	ENSG00000129596.5	transcript	ENST00000250535.5	protein_coding					115		chr5	TogoVar
CDON_chr11_125951821_126067866	125958561	A A	ATGTGTGT others(5): Show ATGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00738.hp1 HG01243.hp2 HG01358.hp2 others(2): Show HG00738.hp1 HG01243.hp2 HG01358.hp2 HG02451.hp1 NA18968.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0014 a0001c0001 a0001c0009 a0002c0014	a0001c0001t0020 a0001c0009t0059 a0002c0014t0107 a0001c0001t0020 a0001c0009t0059 a0002c0014t0107	a0001c0001t0020g0072 a0001c0001t0020g0079 a0001c0001t0020g0230 others(2): Show a0001c0001t0020g0072 a0001c0001t0020g0079 a0001c0001t0020g0230 a0001c0009t0059g0215 a0002c0014t0107g0326	5	334	0.0150	12	c.23 others(23): Show c.2380_*2381insCACACACACACA		CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	20/20				2380		chr11	TogoVar

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