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
CDKL4_chr2_39170646_39248970	39185385	T T	TATACAC TATACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp1 NA20129.hp1 HG01884.hp1 HG02280.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0003g0029 a0001c0001t0003g0041 a0002c0002t0001g0020 a0001c0001t0003g0029 a0001c0001t0003g0041 a0002c0002t0001g0020	3	290	0.0103	6	c.736 others(21): Show c.736-739_736-738insGTGTAT	CDKL4	ENSG00000205111.10	transcript	ENST00000451199.7	protein_coding	7/9			chr2	TogoVar
CDKL4_chr2_39170646_39248970	39193356	A A	AATTATT AATTATT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02109.hp1 HG02717.hp2 others(7): Show HG01496.hp2 HG02109.hp1 HG02717.hp2 HG03225.hp1 HG03540.hp2 HG03927.hp2 HG04115.hp2 HG06807.hp1 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 others(7): Show a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0158 a0001c0001t0001g0159	10	290	0.0345	6	c.455 others(23): Show c.455-2860_455-2855dupAATAAT	CDKL4	ENSG00000205111.10	transcript	ENST00000451199.7	protein_coding	5/9			chr2	TogoVar
CDKL5_chrX_18420608_18645196	18439045	G G	GCCCCCC GCCCCCC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0168 a0001c0001t0033g0168	1	192	0.0052	6	c.-16 others(27): Show c.-163+13356_-163+13361dupCCCCCC	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	1/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18507446	C C	CTTTTTT CTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0148 a0001c0001t0035g0148	1	192	0.0052	6	c.64+ others(19): Show c.64+300_64+305dupTTTTTT	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	2/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18509091	A A	AACACAC AACACAC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0047 a0001c0001t0046g0047	1	192	0.0052	6	c.65- others(21): Show c.65-1697_65-1692dupCACACA	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	2/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18509197	G G	GCACACA GCACACA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01884.hp1 others(11): Show HG01069.hp1 HG01071.hp1 HG01884.hp1 HG02602.hp1 HG02723.hp2 HG02922.hp2 HG04115.hp1 NA18906.hp1 NA18945.hp1 NA18948.hp1 NA18955.hp1 NA18990.hp1 NA18994.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0021 a0001c0001t0047 a0001c0001t0060	a0001c0001t0001g0080 a0001c0001t0001g0088 a0001c0001t0002g0036 others(11): Show a0001c0001t0001g0080 a0001c0001t0001g0088 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0074 a0001c0001t0002g0078 a0001c0001t0003g0077 a0001c0001t0003g0083 a0001c0001t0003g0087 a0001c0001t0007g0014 a0001c0001t0009g0134 a0001c0001t0021g0111 a0001c0001t0047g0110 a0001c0001t0060g0092	14	192	0.0729	6	c.65- others(21): Show c.65-1579_65-1574dupACACAC	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	2/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18509197	G G	GCGCACA GCGCACA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0103 a0001c0001t0014g0103	1	192	0.0052	6	c.65- others(21): Show c.65-1622_65-1621insGCACAC	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	2/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18509199	A A	ACACACG ACACACG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0148 a0001c0001t0035g0148	1	192	0.0052	6	c.65- others(21): Show c.65-1616_65-1615insGCACAC	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	2/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18509199	A A	ACGCGCG ACGCGCG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp2 NA20129.hp2 HG02451.hp1 HG02451.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0023 a0001c0001t0022 a0001c0001t0023	a0001c0001t0022g0064 a0001c0001t0022g0065 a0001c0001t0023g0040 a0001c0001t0022g0064 a0001c0001t0022g0065 a0001c0001t0023g0040	3	192	0.0156	6	c.65- others(21): Show c.65-1620_65-1619insGCGCGC	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	2/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18509245	A A	ACACACC ACACACC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02293.hp1 HG01943.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0005 a0001c0001t0008	a0001c0001t0005g0099 a0001c0001t0008g0054 a0001c0001t0005g0099 a0001c0001t0008g0054	2	192	0.0104	6	c.65- others(21): Show c.65-1574_65-1573insACACCC	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	2/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18536432	G G	GTTTTTT GTTTTTT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0172 a0001c0001t0010g0172	1	192	0.0052	6	c.99+ others(23): Show c.99+25605_99+25610dupTTTTTT	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	3/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18551559	C C	CATTATT CATTATT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp1 HG00642.hp1 others(51): Show HG00597.hp1 HG00609.hp1 HG00642.hp1 HG00738.hp1 HG01099.hp1 HG01106.hp1 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01515.hp1 HG01517.hp1 HG01928.hp1 HG01934.hp1 HG02015.hp1 HG02132.hp1 HG02135.hp1 HG02572.hp1 HG02698.hp1 HG02717.hp1 HG02738.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03453.hp2 HG03492.hp1 HG03540.hp1 HG03654.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp1 NA18522.hp1 NA18906.hp1 NA18940.hp1 NA18943.hp1 NA18953.hp1 NA18955.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18977.hp1 NA18995.hp1 NA19002.hp1 NA19005.hp1 NA19043.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19072.hp1 NA19077.hp1 NA19082.hp1 NA19086.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0023 a0001c0001t0028 a0001c0001t0038 a0001c0001t0039 a0001c0001t0042 a0001c0001t0043 a0001c0001t0049 a0001c0001t0054 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0062 a0003c0004t0026	a0001c0001t0001g0025 a0001c0001t0001g0044 a0001c0001t0001g0057 others(51): Show a0001c0001t0001g0025 a0001c0001t0001g0044 a0001c0001t0001g0057 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0115 a0001c0001t0001g0162 a0001c0001t0002g0034 a0001c0001t0002g0139 a0001c0001t0002g0146 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0161 a0001c0001t0002g0169 a0001c0001t0003g0055 a0001c0001t0003g0061 a0001c0001t0003g0066 a0001c0001t0003g0077 a0001c0001t0003g0109 a0001c0001t0005g0053 a0001c0001t0005g0068 a0001c0001t0005g0075 a0001c0001t0005g0076 a0001c0001t0005g0098 a0001c0001t0006g0151 a0001c0001t0007g0009 a0001c0001t0007g0019 a0001c0001t0007g0062 a0001c0001t0008g0118 a0001c0001t0008g0120 a0001c0001t0009g0132 a0001c0001t0009g0133 a0001c0001t0009g0134 a0001c0001t0013g0159 a0001c0001t0016g0117 a0001c0001t0017g0123 a0001c0001t0017g0145 a0001c0001t0019g0028 a0001c0001t0023g0021 a0001c0001t0028g0175 a0001c0001t0038g0131 a0001c0001t0039g0063 a0001c0001t0042g0178 a0001c0001t0043g0045 a0001c0001t0049g0017 a0001c0001t0054g0024 a0001c0001t0057g0153 a0001c0001t0058g0056 a0001c0001t0059g0071 a0001c0001t0062g0051 a0003c0004t0026g0079	54	192	0.2813	6	c.100 others(25): Show c.100-12878_100-12873dupATTATT	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	3/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18553465	C C	CGTGTGT CGTGTGT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0144 a0001c0001t0056g0144	1	192	0.0052	6	c.100 others(25): Show c.100-10979_100-10974dupGTGTGT	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	3/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18553465	C C	CTTGTGT CTTGTGT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0040 a0001c0001t0023g0040	1	192	0.0052	6	c.100 others(25): Show c.100-11012_100-11011insTTGTGT	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	3/17			chrX	TogoVar
CDKL5_chrX_18420608_18645196	18606174	T T	TCACACA TCACACA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02723.hp1 HG02922.hp1 HG01884.hp2 HG02723.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0035 a0001c0001t0061 a0001c0001t0034 a0001c0001t0035 a0001c0001t0061	a0001c0001t0034g0015 a0001c0001t0035g0148 a0001c0001t0061g0005 a0001c0001t0034g0015 a0001c0001t0035g0148 a0001c0001t0061g0005	3	192	0.0156	6	c.194 others(25): Show c.1944+1337_1944+1342dupCACACA	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	12/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18626661	C C	CCTCTCT CCTCTCT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01517.hp2 HG03927.hp1 HG01358.hp1 HG01517.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0115 a0001c0001t0002g0128 a0001c0001t0005g0011 a0001c0001t0001g0115 a0001c0001t0002g0128 a0001c0001t0005g0011	3	192	0.0156	6	c.249 others(25): Show c.2496+1472_2496+1477dupTCTCTC	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	17/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18626723	T T	TCTCCCC TCTCCCC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0154 a0001c0001t0006g0154	1	192	0.0052	6	c.249 others(25): Show c.2496+1477_2496+1478insTCCCCC	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	17/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18636336	T T	TTTATTA TTTATTA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03139.hp1 HG04115.hp1 NA18944.hp1 others(6): Show HG03139.hp1 HG04115.hp1 NA18944.hp1 NA18957.hp2 NA19005.hp1 NA19060.hp1 NA19072.hp1 NA19077.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0029 a0001c0001t0041 others(3): Show a0001c0001t0007 a0001c0001t0029 a0001c0001t0041 a0001c0001t0042 a0001c0001t0054 a0001c0001t0055	a0001c0001t0007g0009 a0001c0001t0007g0014 a0001c0001t0007g0019 others(6): Show a0001c0001t0007g0009 a0001c0001t0007g0014 a0001c0001t0007g0019 a0001c0001t0007g0062 a0001c0001t0029g0181 a0001c0001t0041g0138 a0001c0001t0042g0178 a0001c0001t0054g0024 a0001c0001t0055g0069	9	192	0.0469	6	c.76 others(17): Show c.7621_*7626dupATTATT	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	18/18	7627	INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18640434	A A	ACCCCCC ACCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0041 a0001c0001t0018g0041	1	192	0.0052	6	c.11 others(19): Show c.11677_*11678insCCCCCC	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding		239		chrX	TogoVar
CDKL5_chrX_18420608_18645196	18642938	T T	TGGAGGC TGGAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0082 a0001c0001t0045g0082	1	192	0.0052	6	c.14 others(19): Show c.14181_*14182insGGAGGC	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding		2743		chrX	TogoVar
CDKL5_chrX_18420608_18645196	18643829	A A	AATATAT AATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG03098.hp1 HG03130.hp1 others(1): Show HG02965.hp1 HG03098.hp1 HG03130.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0132 a0001c0001t0009g0133 a0001c0001t0009g0134 others(1): Show a0001c0001t0009g0132 a0001c0001t0009g0133 a0001c0001t0009g0134 a0001c0001t0009g0135	4	192	0.0208	6	c.15 others(19): Show c.15072_*15073insATATAT	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding		3634		chrX	TogoVar
CDKN1A_chr6_36673714_36692332	36680307	C C	CGTGTGT CGTGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00609.hp2 others(45): Show HG00099.hp1 HG00438.hp2 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG01074.hp1 HG01168.hp1 HG02080.hp1 HG02109.hp2 HG02135.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02572.hp1 HG02698.hp1 HG03486.hp1 HG03516.hp2 HG03942.hp2 HG04115.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18942.hp1 NA18945.hp1 NA18946.hp2 NA18961.hp1 NA18966.hp2 NA18969.hp1 NA18981.hp1 NA18986.hp2 NA18997.hp2 NA19006.hp1 NA19006.hp2 NA19011.hp2 NA19054.hp2 NA19063.hp1 NA19065.hp1 NA19067.hp1 NA19068.hp2 NA19086.hp1 NA19087.hp2 NA19091.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0007 a0002c0002 others(1): Show a0001c0001 a0001c0007 a0002c0002 a0004c0010	a0001c0001t0001 a0001c0001t0007 a0001c0007t0001 others(3): Show a0001c0001t0001 a0001c0001t0007 a0001c0007t0001 a0002c0002t0002 a0002c0002t0004 a0004c0010t0001	a0001c0001t0001g0009 a0001c0001t0001g0053 a0001c0001t0001g0169 others(40): Show a0001c0001t0001g0009 a0001c0001t0001g0053 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0233 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0319 a0001c0001t0007g0154 a0001c0001t0007g0173 a0001c0007t0001g0270 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0071 a0002c0002t0002g0155 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0158 a0002c0002t0002g0159 a0002c0002t0002g0160 a0002c0002t0002g0161 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0004g0164 a0004c0010t0001g0297	48	454	0.1057	6	c.-6+ others(21): Show c.-6+1542_-6+1547dupGTGTGT	CDKN1A	ENSG00000124762.14	transcript	ENST00000244741.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKN1A_chr6_36673714_36692332	36680340	G G	GTGTGTC GTGTGTC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG02129.hp2 others(3): Show HG01257.hp1 HG01258.hp1 HG02129.hp2 HG03017.hp1 HG03017.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0324 a0001c0001t0001g0325 others(2): Show a0001c0001t0001g0055 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327	6	454	0.0132	6	c.-6+ others(21): Show c.-6+1549_-6+1554dupTGTGTC	CDKN1A	ENSG00000124762.14	transcript	ENST00000244741.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKN1A_chr6_36673714_36692332	36681334	T T	TTCTTTC TTCTTTC	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG03669.hp2 HG03942.hp2 others(5): Show HG02027.hp2 HG03669.hp2 HG03942.hp2 NA18948.hp2 NA18981.hp2 NA19077.hp1 NA20300.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0105 a0001c0001t0001g0147 a0001c0001t0001g0178 others(5): Show a0001c0001t0001g0105 a0001c0001t0001g0147 a0001c0001t0001g0178 a0001c0001t0001g0207 a0001c0001t0001g0212 a0001c0001t0001g0226 a0001c0001t0001g0325 a0001c0001t0007g0154	8	454	0.0176	6	c.-6+ others(21): Show c.-6+2537_-6+2538insCTTTCT	CDKN1A	ENSG00000124762.14	transcript	ENST00000244741.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKN1B_chr12_12712368_12727369	12726156	C C	CAAAAAA CAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG02523.hp1 NA18944.hp2 others(4): Show HG01175.hp1 HG02523.hp1 NA18944.hp2 NA18978.hp1 NA18987.hp1 NA19000.hp1 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0002c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002	a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0004g0002 others(2): Show a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0004g0002 a0002c0002t0001g0001 a0002c0002t0002g0002	7	442	0.0158	6	c.51 others(17): Show c.5129_*5130insAAAAAA	CDKN1B	ENSG00000111276.12	transcript	ENST00000228872.9	protein_coding		3788		chr12	TogoVar
CDKN1C_chr11_2878218_2890775	2878233	C C	CCTTTTT CCTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00597.hp2 HG00642.hp1 others(25): Show HG00323.hp1 HG00597.hp2 HG00642.hp1 HG01243.hp2 HG01346.hp1 HG02027.hp2 HG02040.hp2 HG02257.hp1 HG02523.hp1 HG02630.hp2 HG02717.hp1 NA18747.hp1 NA18943.hp2 NA18950.hp1 NA18950.hp2 NA18980.hp1 NA18985.hp1 NA18988.hp1 NA18990.hp1 NA18992.hp2 NA18994.hp1 NA19003.hp1 NA19004.hp1 NA19056.hp2 NA19064.hp2 NA19070.hp2 NA19079.hp2 NA19090.hp1	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0009	a0001c0001 a0001c0002 a0002c0009 others(2): Show a0001c0001 a0001c0002 a0002c0009 a0008c0013 a0009c0015	a0001c0001t0001 a0001c0002t0001 a0002c0009t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0002c0009t0001 a0008c0013t0001 a0009c0015t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0002t0001g0003 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0010 a0002c0009t0001g0019 a0008c0013t0001g0028 a0009c0015t0001g0035	28	417	0.0672	6	c.56 others(17): Show c.5687_*5688insAAAAAG	CDKN1C	ENSG00000129757.15	transcript	ENST00000440480.8	protein_coding		4984		chr11	TogoVar
CDKN1C_chr11_2878218_2890775	2886849	G G	GCACACA GCACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02451.hp2 HG02615.hp1 others(3): Show HG01884.hp1 HG02451.hp2 HG02615.hp1 HG02717.hp2 NA19063.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0015 a0001c0002t0001g0003 a0001c0002t0001g0015	6	417	0.0144	6	c.-12 others(17): Show c.-1227_-1226insTGTGTG	CDKN1C	ENSG00000129757.15	transcript	ENST00000440480.8	protein_coding		1075		chr11	TogoVar
CDKN2AIPNL_chr5_134397065_134416881	134407256	A A	AACACAC AACACAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01433.hp2 HG02145.hp1 others(15): Show HG00642.hp1 HG01433.hp2 HG02145.hp1 HG02165.hp1 HG02280.hp1 HG03130.hp2 HG03669.hp1 HG03831.hp2 NA18964.hp2 NA18970.hp2 NA18981.hp1 NA18982.hp1 NA18998.hp1 NA19065.hp1 NA19080.hp1 NA19082.hp1 NA19091.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0010 a0001c0001t0001g0026 a0001c0001t0001g0032 others(5): Show a0001c0001t0001g0010 a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0050 a0001c0001t0001g0115 a0001c0001t0001g0127 a0001c0001t0001g0140 a0001c0001t0002g0132	18	380	0.0474	6	c.339 others(23): Show c.339+2641_339+2646dupGTGTGT	CDKN2AIPNL	ENSG00000237190.4	transcript	ENST00000458198.3	protein_coding	2/2			chr5	TogoVar
CDKN2A_chr9_21962752_21979857	21971575	A A	ATTTTTT ATTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00733.hp1 HG01175.hp1 others(7): Show HG00639.hp1 HG00733.hp1 HG01175.hp1 HG01256.hp1 HG01516.hp2 HG03130.hp2 HG03490.hp1 HG03492.hp2 HG04199.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0006 a0001c0001t0001g0114 a0002c0002t0001g0046 a0001c0001t0001g0006 a0001c0001t0001g0114 a0002c0002t0001g0046	10	416	0.0240	6	c.151 others(21): Show c.151-373_151-368dupAAAAAA	CDKN2A	ENSG00000147889.18	transcript	ENST00000304494.10	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21971575	A A	ATTTTTT ATTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00733.hp1 HG01175.hp1 others(7): Show HG00639.hp1 HG00733.hp1 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(5): Show a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0366 a0001c0001t0001g0371 a0001c0001t0001g0373 a0001c0001t0001g0375 a0001c0001t0007g0367 a0001c0001t0007g0374	10	404	0.0248	6	c.194 others(21): Show c.194-373_194-368dupAAAAAA	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21980990	G G	GTATATA GTATATA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02027.hp1 HG02056.hp2 others(33): Show HG00597.hp2 HG02027.hp1 HG02056.hp2 HG02129.hp2 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG04184.hp2 HG04199.hp1 NA18940.hp1 NA18942.hp2 NA18943.hp1 NA18948.hp2 NA18951.hp1 NA18957.hp2 NA18959.hp1 NA18964.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18975.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA19000.hp1 NA19007.hp1 NA19010.hp2 NA19012.hp2 NA19056.hp2 NA19060.hp2 NA19064.hp2 NA19065.hp2 NA19068.hp2 NA19075.hp1 NA19084.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0123 a0001c0001t0001g0124 others(33): Show a0001c0001t0001g0059 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0260 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0281 a0001c0001t0001g0361 a0001c0001t0001g0362	36	404	0.0891	6	c.194 others(23): Show c.194-9788_194-9783dupTATATA	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21981005	T T	TATATAC TATATAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00733.hp1 HG01109.hp2 others(9): Show HG00639.hp1 HG00733.hp1 HG01109.hp2 HG01175.hp1 HG01256.hp1 HG01516.hp2 HG02647.hp2 HG03130.hp2 HG03490.hp1 HG03492.hp2 HG04199.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0265 others(7): Show a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0265 a0001c0001t0001g0366 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0001t0001g0375 a0001c0001t0007g0367 a0001c0001t0007g0374	12	404	0.0297	6	c.194 others(23): Show c.194-9798_194-9797insGTATAT	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21981134	A A	ATATACG ATATACG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02258.hp1 HG02486.hp1 others(1): Show HG01243.hp2 HG02258.hp1 HG02486.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0009 a0001c0001t0001g0277 a0001c0001t0001g0278	4	404	0.0099	6	c.194 others(23): Show c.194-9932_194-9927dupCGTATA	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21981150	A A	ATACGTG ATACGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(20): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG01099.hp1 HG01168.hp1 HG01169.hp2 HG01255.hp2 HG02145.hp2 HG02735.hp1 HG03017.hp1 HG03239.hp2 HG03704.hp1 NA18940.hp2 NA18943.hp2 NA18957.hp1 NA18960.hp1 NA18973.hp2 NA18988.hp1 NA18990.hp2 NA19062.hp1 NA19080.hp2 NA19081.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0001 a0001c0001t0002 a0001c0001t0011	a0001c0001t0001g0006 a0001c0001t0001g0025 a0001c0001t0001g0037 others(19): Show a0001c0001t0001g0006 a0001c0001t0001g0025 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0074 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0126 a0001c0001t0001g0136 a0001c0001t0001g0172 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0002g0222 a0001c0001t0011g0167	23	404	0.0569	6	c.194 others(23): Show c.194-9943_194-9942insCACGTA	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21981170	A A	ATATACG ATATACG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02055.hp2 HG02717.hp1 others(6): Show HG01074.hp1 HG02055.hp2 HG02717.hp1 HG02896.hp2 HG02897.hp2 HG03098.hp2 HG03195.hp2 HG03471.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0003 a0001c0001t0002g0049 a0001c0001t0004g0272 others(4): Show a0001c0001t0001g0003 a0001c0001t0002g0049 a0001c0001t0004g0272 a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0004g0348 a0001c0001t0004g0349	9	404	0.0223	6	c.194 others(23): Show c.194-9968_194-9963dupCGTATA	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21987396	A A	AACACAC AACACAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00741.hp2 HG01243.hp2 others(18): Show HG00544.hp2 HG00741.hp2 HG01243.hp2 HG01516.hp2 HG02129.hp1 HG02257.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02818.hp1 HG03139.hp2 HG03490.hp2 HG03491.hp1 HG03579.hp2 HG03688.hp1 HG03710.hp1 NA18970.hp1 NA18978.hp2 NA18995.hp2 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0026 a0001c0001t0001g0128 a0001c0001t0001g0146 others(18): Show a0001c0001t0001g0026 a0001c0001t0001g0128 a0001c0001t0001g0146 a0001c0001t0001g0162 a0001c0001t0001g0179 a0001c0001t0001g0200 a0001c0001t0001g0204 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0277 a0001c0001t0001g0373 a0001c0001t0001g0376 a0001c0001t0001g0377 a0001c0001t0002g0276 a0001c0001t0002g0289 a0001c0001t0002g0357 a0001c0001t0003g0052 a0001c0001t0003g0150 a0001c0001t0005g0318	21	404	0.0520	6	c.193 others(23): Show c.193+6737_193+6742dupGTGTGT	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21990611	T T	TGAGAGA TGAGAGA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02145.hp1 HG02976.hp1 others(5): Show HG01261.hp1 HG02145.hp1 HG02976.hp1 HG03579.hp1 NA18522.hp1 NA18954.hp1 NA19012.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0001 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0362 others(5): Show a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0362 a0001c0001t0003g0054 a0001c0001t0003g0117 a0001c0001t0003g0233 a0001c0001t0003g0279 a0001c0001t0007g0367	8	404	0.0198	6	c.193 others(23): Show c.193+3522_193+3527dupTCTCTC	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21993799	C C	CTGTGTG CTGTGTG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG03516.hp1 NA19070.hp1 HG00558.hp1 HG03516.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0006g0022 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0006g0022	3	404	0.0074	6	c.193 others(21): Show c.193+334_193+339dupCACACA	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2B_chr9_21997903_22014305	22005112	A A	ATGTGTG ATGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00597.hp1 HG01074.hp2 HG01891.hp2 others(33): Show HG00597.hp1 HG01074.hp2 HG01891.hp2 HG02055.hp2 HG02074.hp1 HG02129.hp2 HG02135.hp1 HG02257.hp1 HG02280.hp1 HG02572.hp1 HG02615.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp2 HG02970.hp1 HG02976.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp1 NA18906.hp2 NA18940.hp2 NA18948.hp1 NA18984.hp1 NA19030.hp1 NA19030.hp2 NA19060.hp1 NA19064.hp1 NA19065.hp1 NA19068.hp2 NA19086.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0032 others(2): Show a0001c0001t0004 a0001c0001t0009 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034	a0001c0001t0004g0004 a0001c0001t0004g0054 a0001c0001t0009g0013 others(5): Show a0001c0001t0004g0004 a0001c0001t0004g0054 a0001c0001t0009g0013 a0001c0001t0009g0034 a0001c0001t0009g0040 a0001c0001t0032g0053 a0001c0001t0033g0055 a0001c0001t0034g0043	36	416	0.0865	6	c.86 others(15): Show c.869_*874dupCACACA	CDKN2B	ENSG00000147883.12	transcript	ENST00000276925.7	protein_coding	2/2	874		chr9	TogoVar
CDKN2D_chr19_10561460_10573979	10570547	C C	CAAAAAA CAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp2 NA18947.hp2 NA18948.hp2 others(18): Show NA18942.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18962.hp2 NA18964.hp1 NA18970.hp1 NA18971.hp1 NA18974.hp1 NA18975.hp1 NA18979.hp1 NA18983.hp1 NA18992.hp1 NA19005.hp1 NA19055.hp1 NA19059.hp1 NA19063.hp1 NA19064.hp2 NA19070.hp1 NA19080.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0002 a0001c0001t0002g0007 a0001c0001t0005g0014 a0001c0001t0001g0002 a0001c0001t0002g0007 a0001c0001t0005g0014	21	410	0.0512	6	c.-18 others(17): Show c.-1895_-1894insTTTTTT	CDKN2D	ENSG00000129355.7	transcript	ENST00000393599.3	protein_coding		1569		chr19	TogoVar
CDKN2D_chr19_10561460_10573979	10571167	C C	CTTTTTT CTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG01433.hp1 HG02083.hp2 others(9): Show HG00673.hp1 HG01433.hp1 HG02083.hp2 HG02615.hp2 HG02922.hp2 HG03471.hp1 HG04199.hp2 NA18951.hp1 NA18967.hp2 NA18977.hp1 NA18981.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	12	410	0.0293	6	c.-25 others(17): Show c.-2515_-2514insAAAAAA	CDKN2D	ENSG00000129355.7	transcript	ENST00000393599.3	protein_coding		2189		chr19	TogoVar
CDKN3_chr14_54392007_54425218	54398987	C C	CTTTTTT CTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00423.hp1 others(85): Show HG00099.hp1 HG00280.hp2 HG00423.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00738.hp2 HG01070.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG02004.hp2 HG02109.hp1 HG02148.hp2 HG02165.hp1 HG02258.hp1 HG02273.hp1 HG02293.hp1 HG02523.hp2 HG02602.hp1 HG02922.hp1 HG02976.hp2 HG03017.hp1 HG03239.hp1 HG03453.hp1 HG03490.hp2 HG03491.hp2 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp2 HG04204.hp2 NA18522.hp1 NA18612.hp1 NA18945.hp2 NA18946.hp1 NA18951.hp1 NA18955.hp1 NA18956.hp2 NA18965.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp2 NA18974.hp1 NA18978.hp1 NA18979.hp2 NA18995.hp1 NA18995.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19030.hp2 NA19054.hp1 NA19058.hp2 NA19060.hp1 NA19063.hp1 NA19067.hp1 NA19070.hp2 NA19079.hp2 NA19083.hp2 NA19084.hp1 NA19087.hp1 NA19091.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 others(25): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0055 a0001c0001t0001g0099 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0187	88	420	0.2095	6	c.10- others(19): Show c.10-894_10-889dupTTTTTT	CDKN3	ENSG00000100526.21	transcript	ENST00000335183.11	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
CDNF_chr10_14814245_14843037	14814974	A A	AAAAAAG AAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02451.hp2 HG02895.hp2 others(6): Show HG02258.hp1 HG02451.hp2 HG02895.hp2 NA18949.hp2 NA18960.hp1 NA19081.hp2 NA19086.hp1 NA19086.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0010 a0001c0001t0001g0212 a0001c0001t0002g0031 others(6): Show a0001c0001t0001g0010 a0001c0001t0001g0212 a0001c0001t0002g0031 a0001c0001t0002g0041 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0287 a0001c0001t0002g0295 a0001c0001t0002g0302	9	418	0.0215	6	c.50 others(17): Show c.5005_*5006insCTTTTT	CDNF	ENSG00000185267.10	transcript	ENST00000465530.2	protein_coding		4270		chr10	TogoVar
CDNF_chr10_14814245_14843037	14826002	A A	AAGAAGC AAGAAGC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00733.hp1 HG01070.hp1 others(28): Show HG00423.hp2 HG00733.hp1 HG01070.hp1 HG01175.hp2 HG02040.hp2 HG02055.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02523.hp1 HG02559.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02970.hp2 HG02976.hp1 HG03139.hp2 HG03225.hp1 HG03540.hp1 HG03540.hp2 HG04228.hp1 NA18747.hp1 NA18906.hp2 NA18979.hp1 NA18985.hp2 NA19079.hp1 NA19091.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0012 a0001c0001t0001g0039 a0001c0001t0001g0060 others(26): Show a0001c0001t0001g0012 a0001c0001t0001g0039 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0354 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0002g0271 a0001c0001t0002g0275 a0001c0001t0002g0279 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0290 a0001c0001t0002g0298 a0001c0001t0002g0307 a0001c0001t0002g0309 a0001c0001t0002g0318 a0001c0001t0002g0328	31	418	0.0742	6	c.244 others(21): Show c.244-388_244-383dupGCTTCT	CDNF	ENSG00000185267.10	transcript	ENST00000465530.2	protein_coding	2/3			chr10	TogoVar
CDNF_chr10_14814245_14843037	14826029	G G	GAGAAGA GAGAAGA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02040.hp2 HG02083.hp1 others(21): Show HG02027.hp1 HG02040.hp2 HG02083.hp1 HG02132.hp1 HG02135.hp1 HG02273.hp1 HG03540.hp1 HG03710.hp2 HG04199.hp1 HG06807.hp1 NA18941.hp2 NA18946.hp1 NA18951.hp1 NA18954.hp2 NA18979.hp2 NA18985.hp2 NA19007.hp1 NA19054.hp1 NA19065.hp2 NA19077.hp2 NA19080.hp1 NA19082.hp2 NA19086.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0082 a0001c0001t0001g0111 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0082 a0001c0001t0001g0111 a0001c0001t0001g0118 a0001c0001t0001g0179 a0001c0001t0001g0189 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0208 a0001c0001t0001g0227 a0001c0001t0001g0251 a0001c0001t0001g0257 a0001c0001t0002g0032 a0001c0001t0002g0041 a0001c0001t0002g0260 a0001c0001t0002g0267 a0001c0001t0002g0271 a0001c0001t0002g0279 a0001c0001t0002g0291	24	418	0.0574	6	c.244 others(21): Show c.244-415_244-410dupTCTTCT	CDNF	ENSG00000185267.10	transcript	ENST00000465530.2	protein_coding	2/3			chr10	TogoVar
CDNF_chr10_14814245_14843037	14826095	A A	AAGAAGC AAGAAGC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02895.hp1 HG03540.hp2 others(1): Show HG02647.hp1 HG02895.hp1 HG03540.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0039 a0001c0001t0001g0358 a0001c0001t0002g0365 a0001c0001t0001g0039 a0001c0001t0001g0358 a0001c0001t0002g0365	4	418	0.0096	6	c.244 others(21): Show c.244-476_244-475insGCTTCT	CDNF	ENSG00000185267.10	transcript	ENST00000465530.2	protein_coding	2/3			chr10	TogoVar
CDON_chr11_125951821_126067866	125958565	A A	ATGTGTG ATGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00735.hp2 HG01099.hp2 HG01106.hp1 others(22): Show HG00735.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01346.hp1 HG01884.hp2 HG01978.hp1 HG02109.hp2 HG02145.hp2 HG02273.hp2 HG02293.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02615.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02965.hp1 HG03041.hp1 HG03195.hp1 HG03579.hp1 NA18522.hp1 NA18522.hp2 NA19043.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0017	a0001c0001 a0001c0071 a0002c0003 others(7): Show a0001c0001 a0001c0071 a0002c0003 a0002c0014 a0002c0019 a0002c0028 a0003c0017 a0007c0008 a0007c0029 a0017c0061	a0001c0001t0013 a0001c0071t0073 a0002c0003t0078 others(10): Show a0001c0001t0013 a0001c0071t0073 a0002c0003t0078 a0002c0014t0012 a0002c0019t0012 a0002c0028t0099 a0003c0017t0045 a0007c0008t0007 a0007c0008t0084 a0007c0008t0100 a0007c0008t0112 a0007c0029t0007 a0017c0061t0106	a0001c0001t0013g0066 a0001c0001t0013g0076 a0001c0001t0013g0147 others(22): Show a0001c0001t0013g0066 a0001c0001t0013g0076 a0001c0001t0013g0147 a0001c0001t0013g0165 a0001c0071t0073g0251 a0002c0003t0078g0287 a0002c0014t0012g0013 a0002c0019t0012g0126 a0002c0019t0012g0128 a0002c0019t0012g0129 a0002c0019t0012g0134 a0002c0028t0099g0313 a0003c0017t0045g0199 a0007c0008t0007g0124 a0007c0008t0007g0136 a0007c0008t0007g0138 a0007c0008t0007g0140 a0007c0008t0007g0143 a0007c0008t0007g0144 a0007c0008t0084g0270 a0007c0008t0100g0314 a0007c0008t0112g0331 a0007c0029t0007g0130 a0007c0029t0007g0131 a0017c0061t0106g0322	25	334	0.0749	6	c.23 others(17): Show c.2371_*2376dupCACACA	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	20/20	2376		chr11	TogoVar
CDON_chr11_125951821_126067866	126048282	C C	CAAAAAA CAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00438.hp1 others(70): Show HG00140.hp2 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00609.hp2 HG00642.hp2 HG00673.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01928.hp2 HG01993.hp1 HG02004.hp1 HG02027.hp1 HG02074.hp1 HG02129.hp1 HG02132.hp2 HG02155.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02809.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03239.hp1 HG03471.hp1 HG03491.hp2 HG03516.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04115.hp2 HG04228.hp2 NA18612.hp2 NA18947.hp2 NA18949.hp1 NA18951.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18957.hp1 NA18962.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18988.hp1 NA18989.hp1 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA19002.hp1 NA19030.hp1 NA19054.hp1 NA19056.hp1 NA19062.hp2 NA19065.hp2 NA19077.hp1 NA19085.hp2 NA19086.hp1 NA20905.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0011 a0014 a0021 a0023 a0024 a0026 a0030 a0031	a0001c0001 a0001c0004 a0001c0009 others(26): Show a0001c0001 a0001c0004 a0001c0009 a0001c0020 a0001c0021 a0001c0024 a0002c0002 a0002c0003 a0002c0012 a0002c0013 a0003c0006 a0003c0017 a0003c0026 a0004c0005 a0004c0063 a0005c0010 a0005c0030 a0005c0046 a0005c0053 a0005c0056 a0006c0034 a0011c0018 a0014c0032 a0021c0049 a0023c0055 a0024c0051 a0026c0038 a0030c0064 a0031c0066	a0001c0001t0001 a0001c0001t0020 a0001c0004t0063 others(46): Show a0001c0001t0001 a0001c0001t0020 a0001c0004t0063 a0001c0009t0059 a0001c0020t0001 a0001c0020t0004 a0001c0020t0005 a0001c0021t0067 a0001c0024t0005 a0002c0002t0003 a0002c0002t0030 a0002c0002t0060 a0002c0002t0069 a0002c0003t0001 a0002c0003t0004 a0002c0003t0005 a0002c0003t0037 a0002c0003t0047 a0002c0003t0048 a0002c0012t0040 a0002c0013t0010 a0002c0013t0024 a0003c0006t0004 a0003c0006t0014 a0003c0006t0015 a0003c0006t0055 a0003c0017t0001 a0003c0017t0044 a0003c0017t0045 a0003c0026t0003 a0003c0026t0022 a0004c0005t0002 a0004c0063t0002 a0005c0010t0002 a0005c0010t0006 a0005c0030t0038 a0005c0046t0002 a0005c0053t0025 a0005c0056t0025 a0006c0034t0050 a0011c0018t0005 a0011c0018t0027 a0014c0032t0088 a0021c0049t0021 a0023c0055t0041 a0024c0051t0002 a0026c0038t0004 a0030c0064t0002 a0031c0066t0032	a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0202 others(69): Show a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0020g0230 a0001c0004t0063g0185 a0001c0009t0059g0215 a0001c0020t0001g0218 a0001c0020t0001g0220 a0001c0020t0004g0219 a0001c0020t0005g0241 a0001c0021t0067g0223 a0001c0024t0005g0204 a0001c0024t0005g0216 a0002c0002t0003g0003 a0002c0002t0003g0019 a0002c0002t0003g0022 a0002c0002t0003g0024 a0002c0002t0003g0028 a0002c0002t0003g0184 a0002c0002t0003g0193 a0002c0002t0003g0201 a0002c0002t0003g0208 a0002c0002t0003g0231 a0002c0002t0003g0232 a0002c0002t0003g0248 a0002c0002t0030g0018 a0002c0002t0030g0023 a0002c0002t0060g0224 a0002c0002t0069g0210 a0002c0003t0001g0020 a0002c0003t0001g0021 a0002c0003t0001g0027 a0002c0003t0001g0206 a0002c0003t0001g0221 a0002c0003t0004g0211 a0002c0003t0005g0017 a0002c0003t0037g0004 a0002c0003t0047g0207 a0002c0003t0048g0025 a0002c0012t0040g0214 a0002c0013t0010g0222 a0002c0013t0024g0217 a0003c0006t0004g0178 a0003c0006t0004g0198 a0003c0006t0004g0234 a0003c0006t0014g0177 a0003c0006t0015g0197 a0003c0006t0055g0179 a0003c0017t0001g0205 a0003c0017t0044g0200 a0003c0017t0045g0199 a0003c0026t0003g0229 a0003c0026t0022g0195 a0004c0005t0002g0226 a0004c0063t0002g0194 a0005c0010t0002g0228 a0005c0010t0006g0256 a0005c0030t0038g0005 a0005c0046t0002g0183 a0005c0053t0025g0212 a0005c0056t0025g0233 a0006c0034t0050g0225 a0011c0018t0005g0213 a0011c0018t0027g0190 a0014c0032t0088g0271 a0021c0049t0021g0209 a0023c0055t0041g0189 a0024c0051t0002g0180 a0026c0038t0004g0196 a0030c0064t0002g0227 a0031c0066t0032g0026	73	334	0.2186	6	c.-62 others(25): Show c.-62+14291_-62+14296dupTTTTTT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	1/19			chr11	TogoVar
CDON_chr11_125951821_126067866	126050495	A A	AACACAC AACACAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02129.hp1 HG02258.hp1 others(5): Show HG00609.hp2 HG02129.hp1 HG02258.hp1 HG02559.hp2 HG02976.hp2 HG03516.hp1 NA19007.hp1 NA20300.hp2	a0001 a0002 a0011 others(2): Show a0001 a0002 a0011 a0012 a0013	a0001c0001 a0002c0014 a0002c0028 others(4): Show a0001c0001 a0002c0014 a0002c0028 a0011c0018 a0012c0060 a0012c0062 a0013c0022	a0001c0001t0001 a0002c0014t0001 a0002c0028t0101 others(4): Show a0001c0001t0001 a0002c0014t0001 a0002c0028t0101 a0011c0018t0027 a0012c0060t0017 a0012c0062t0097 a0013c0022t0018	a0001c0001t0001g0191 a0001c0001t0001g0192 a0002c0014t0001g0245 others(5): Show a0001c0001t0001g0191 a0001c0001t0001g0192 a0002c0014t0001g0245 a0002c0028t0101g0311 a0011c0018t0027g0190 a0012c0060t0017g0038 a0012c0062t0097g0307 a0013c0022t0018g0188	8	334	0.0240	6	c.-62 others(25): Show c.-62+12078_-62+12083dupGTGTGT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	1/19			chr11	TogoVar
CDPF1_chr22_46239013_46255293	46242731	G G	GCACACA GCACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01109.hp1 HG01433.hp2 others(10): Show HG00741.hp1 HG01109.hp1 HG01433.hp2 HG02559.hp1 HG02647.hp2 HG02723.hp1 HG02809.hp1 HG03098.hp2 HG03139.hp2 HG03453.hp2 HG03540.hp2 NA19030.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0002c0002t0004 a0001c0001t0001 a0002c0002t0003 a0002c0002t0004	a0001c0001t0001g0001 a0002c0002t0003g0007 a0002c0002t0003g0008 others(2): Show a0001c0001t0001g0001 a0002c0002t0003g0007 a0002c0002t0003g0008 a0002c0002t0003g0021 a0002c0002t0004g0002	13	280	0.0464	6	c.23 others(17): Show c.2355_*2360dupTGTGTG	CDPF1	ENSG00000205643.11	transcript	ENST00000314567.8	protein_coding		1281		chr22	TogoVar

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