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
CDK14_chr7_90591321_91215590	90621663	T T	TCCTTCCT others(21): Show TCCTTCCTTCCTGCCTTCCTGCCTTCCTG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0024	1	168	0.0060	28	c.123 others(47): Show c.123+17421_123+17422insTCCTGCCTTCCTGCCTTCCTGCCTTC CT	CDK14	ENSG00000058091.17	transcript	ENST00000380050.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK14_chr7_90591321_91215590	91010829	C C	CTTCCTTC others(21): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0167 a0002c0003t0001g0167	1	168	0.0060	28	c.104 others(49): Show c.1041+26593_1041+26594insTCCTTCCTTCCTTCCTTCCTTCTT TCCT	CDK14	ENSG00000058091.17	transcript	ENST00000380050.8	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK14_chr7_90591321_91215590	91091501	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG03579.hp1 NA19064.hp2 HG01433.hp1 HG03579.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0098 a0001c0001t0001g0131 a0001c0001t0014g0019 a0001c0001t0001g0098 a0001c0001t0001g0131 a0001c0001t0014g0019	3	168	0.0179	28	c.115 others(49): Show c.1154+12037_1154+12038insTATATATATATATATATATATATA TATA	CDK14	ENSG00000058091.17	transcript	ENST00000380050.8	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK15_chr2_201801537_201900550	201857232	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	322	0.0031	28	c.100 others(47): Show c.1009+2311_1009+2312insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	CDK15	ENSG00000138395.17	transcript	ENST00000652192.3	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
CDK18_chr1_205499669_205537790	205532937	G G	GTATGTGT others(21): Show GTATGTGTGTGTGTGTGTGTGTGTGTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0316 a0001c0001t0007g0316	1	388	0.0026	28	c.15 others(39): Show c.1559_*1560insTATGTGTGTGTGTGTGTGTGTGTGTATA	CDK18	ENSG00000117266.16	transcript	ENST00000429964.7	protein_coding		148		chr1	TogoVar
CDK18_chr1_205499669_205537790	205532937	G G	GTGTATGT others(21): Show GTGTATGTGTGTGTGTGTGTGTGTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0162 a0001c0001t0007g0162	1	388	0.0026	28	c.15 others(39): Show c.1559_*1560insTGTATGTGTGTGTGTGTGTGTGTATATA	CDK18	ENSG00000117266.16	transcript	ENST00000429964.7	protein_coding		148		chr1	TogoVar
CDK18_chr1_205499669_205537790	205532937	G G	GTGTGTAT others(21): Show GTGTGTATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0211 a0001c0001t0003g0211	1	388	0.0026	28	c.15 others(39): Show c.1559_*1560insTGTGTATATATATATATATATATATATA	CDK18	ENSG00000117266.16	transcript	ENST00000429964.7	protein_coding		148		chr1	TogoVar
CDK18_chr1_205499669_205537790	205532937	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0155 a0002c0002t0008g0155	1	388	0.0026	28	c.15 others(39): Show c.1559_*1560insTGTGTGTGTGTATATATATATATATATA	CDK18	ENSG00000117266.16	transcript	ENST00000429964.7	protein_coding		148		chr1	TogoVar
CDK18_chr1_205499669_205537790	205532937	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGTGTGTGTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	388	0.0026	28	c.15 others(39): Show c.1559_*1560insTGTGTGTGTGTGTGTGTGTGTATATATA	CDK18	ENSG00000117266.16	transcript	ENST00000429964.7	protein_coding		148		chr1	TogoVar
CDK19_chr6_110604978_110820469	110641646	A A	AAAGAAAG others(21): Show AAAGAAAGAAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02647.hp1 HG02486.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0004g0218 a0001c0001t0004g0219	2	300	0.0067	28	c.457 others(45): Show c.457-2941_457-2940insCCTTCCTTCCTTCCTTCCTTTCTTTCTT	CDK19	ENSG00000155111.15	transcript	ENST00000368911.8	protein_coding	4/12			chr6	TogoVar
CDK19_chr6_110604978_110820469	110641646	A A	AAAGAAAG others(21): Show AAAGAAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01884.hp1 HG02074.hp2 others(4): Show HG00544.hp1 HG01884.hp1 HG02074.hp2 HG02886.hp2 HG03098.hp2 NA18962.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0015 others(1): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0015 a0001c0001t0016	a0001c0001t0004g0071 a0001c0001t0005g0022 a0001c0001t0005g0024 others(4): Show a0001c0001t0004g0071 a0001c0001t0005g0022 a0001c0001t0005g0024 a0001c0001t0015g0029 a0001c0001t0016g0274 a0001c0001t0016g0275 a0001c0001t0016g0276	7	300	0.0233	28	c.457 others(45): Show c.457-2941_457-2940insCCTTCCTTCCTTCCTTCCTTCCTTTCTT	CDK19	ENSG00000155111.15	transcript	ENST00000368911.8	protein_coding	4/12			chr6	TogoVar
CDK19_chr6_110604978_110820469	110734520	G G	GCTCTCTC others(21): Show GCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01192.hp2 HG02027.hp1 others(7): Show HG00099.hp2 HG01192.hp2 HG02027.hp1 HG03669.hp1 HG04115.hp1 HG06807.hp1 HG06807.hp2 NA18977.hp2 NA18997.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0039 a0001c0001t0040	a0001c0001t0002g0099 a0001c0001t0002g0102 a0001c0001t0002g0124 others(7): Show a0001c0001t0002g0099 a0001c0001t0002g0102 a0001c0001t0002g0124 a0001c0001t0004g0064 a0001c0001t0004g0108 a0001c0001t0006g0049 a0001c0001t0009g0299 a0001c0001t0010g0118 a0001c0001t0039g0290 a0001c0001t0040g0296	10	300	0.0333	28	c.204 others(47): Show c.204+11578_204+11605dupAGAGAGAGAGAGAGAGAGAGAGAGAG AG	CDK19	ENSG00000155111.15	transcript	ENST00000368911.8	protein_coding	2/12			chr6	TogoVar
CDK19_chr6_110604978_110820469	110764952	A A	AAAATAAA others(21): Show AAAATAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0116 a0001c0001t0007g0116	1	300	0.0033	28	c.129 others(47): Show c.129-18779_129-18752dupATTTATTTATTTATTTATTTATTTAT TT	CDK19	ENSG00000155111.15	transcript	ENST00000368911.8	protein_coding	1/12			chr6	TogoVar
CDK2AP1_chr12_123255976_123276856	123274774	G G	GGAAGGAA others(21): Show GGAAGGAAGGAAGGAAGGAAGGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	328	0.0031	28	c.-31 others(39): Show c.-3157_-3156insTTTCTTTCCTTCCTTCCTTCCTTCCTTC	CDK2AP1	ENSG00000111328.7	transcript	ENST00000261692.7	protein_coding		2919		chr12	TogoVar
CDK2AP1_chr12_123255976_123276856	123274872	A A	AAGAAAGA others(21): Show AAGAAAGAAAGAAAGAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	328	0.0031	28	c.-32 others(39): Show c.-3255_-3254insCTTTCTTTCTTTCTCTTTCTTTCTTTCT	CDK2AP1	ENSG00000111328.7	transcript	ENST00000261692.7	protein_coding		3017		chr12	TogoVar
CDK2AP2_chr11_67501497_67513162	67504782	A A	ACCCGAAC others(21): Show ACCCGAACCTACCTTCCGGGACCGGTAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	316	0.0032	28	c.21 others(39): Show c.2135_*2162dupATTACCGGTCCCGGAAGGTAGGTTCGGG	CDK2AP2	ENSG00000167797.8	transcript	ENST00000301488.8	protein_coding		1714		chr11	TogoVar
CDK5R2_chr2_218954666_218967155	218966503	T T	TATATACA others(21): Show TATATACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	388	0.0026	28	c.55 others(39): Show c.5579_*5580insATATACACACACACACACACACACACAC	CDK5R2	ENSG00000171450.6	transcript	ENST00000302625.6	protein_coding		4349		chr2	TogoVar
CDK5R2_chr2_218954666_218967155	218966503	T T	TATATATA others(21): Show TATATATATATATATATACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0000 a0001c0002t0002g0000	2	388	0.0052	28	c.55 others(39): Show c.5579_*5580insATATATATATATATATACACACACACAC	CDK5R2	ENSG00000171450.6	transcript	ENST00000302625.6	protein_coding		4349		chr2	TogoVar
CDK5R2_chr2_218954666_218967155	218966503	T T	TATATATA others(21): Show TATATATATATATATATACATACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	388	0.0026	28	c.55 others(39): Show c.5579_*5580insATATATATATATATATACATACACACAC	CDK5R2	ENSG00000171450.6	transcript	ENST00000302625.6	protein_coding		4349		chr2	TogoVar
CDK5R2_chr2_218954666_218967155	218966503	T T	TATATATA others(21): Show TATATATATATATATATATATACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	388	0.0026	28	c.55 others(39): Show c.5579_*5580insATATATATATATATATATATACACACAC	CDK5R2	ENSG00000171450.6	transcript	ENST00000302625.6	protein_coding		4349		chr2	TogoVar
CDK6_chr7_92599921_92841573	92778946	T T	TATATATA others(21): Show TATATATATATATATATATATATATAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0110 a0001c0001t0011g0110	1	124	0.0081	28	c.234 others(45): Show c.234-4116_234-4115insTTTTATATATATATATATATATATATAT	CDK6	ENSG00000105810.10	transcript	ENST00000424848.3	protein_coding	2/7			chr7	TogoVar
CDK6_chr7_92599921_92841573	92778946	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01884.hp2 HG02109.hp1 others(12): Show HG00639.hp2 HG01884.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02572.hp2 HG02717.hp1 HG02886.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03669.hp2 HG03942.hp2 NA18964.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0016 a0001c0001t0018 a0001c0001t0022 a0001c0001t0031 a0001c0001t0032 a0001c0001t0046	a0001c0001t0002g0036 a0001c0001t0002g0093 a0001c0001t0002g0124 others(12): Show a0001c0001t0002g0036 a0001c0001t0002g0093 a0001c0001t0002g0124 a0001c0001t0003g0029 a0001c0001t0004g0012 a0001c0001t0004g0013 a0001c0001t0004g0016 a0001c0001t0009g0002 a0001c0001t0010g0102 a0001c0001t0016g0087 a0001c0001t0018g0094 a0001c0001t0022g0084 a0001c0001t0031g0092 a0001c0001t0032g0014 a0001c0001t0046g0023	15	124	0.1210	28	c.234 others(45): Show c.234-4116_234-4115insTTATATATATATATATATATATATATAT	CDK6	ENSG00000105810.10	transcript	ENST00000424848.3	protein_coding	2/7			chr7	TogoVar
CDKAL1_chr6_20529457_21237404	20600771	C C	CATATATA others(21): Show CATATATATATATATATATATACACATAT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01496.hp2 HG02818.hp1 others(1): Show HG01257.hp1 HG01496.hp2 HG02818.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0002t0033 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0033 a0001c0002t0034	a0001c0001t0001g0192 a0001c0001t0005g0189 a0001c0002t0033g0193 others(1): Show a0001c0001t0001g0192 a0001c0001t0005g0189 a0001c0002t0033g0193 a0001c0002t0034g0182	4	196	0.0204	28	c.287 others(47): Show c.287-48505_287-48504insTATACACATATATATATATATATATA TA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20600771	C C	CATATATA others(21): Show CATATATATATATATATATATACATATAT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0013 a0002c0003t0013	a0002c0003t0013g0037 a0002c0003t0013g0037	1	196	0.0051	28	c.287 others(47): Show c.287-48505_287-48504insTATACATATATATATATATATATATA TA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20600771	C C	CATATATA others(21): Show CATATATATATATATATATATATACATAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00673.hp2 HG01167.hp1 others(28): Show HG00544.hp2 HG00673.hp2 HG01167.hp1 HG01516.hp1 HG01934.hp2 HG01943.hp2 HG01978.hp2 HG02027.hp1 HG02056.hp1 HG02129.hp1 HG02132.hp2 HG02273.hp2 HG03491.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp2 HG04184.hp2 HG04204.hp2 NA18948.hp2 NA18953.hp1 NA18956.hp1 NA18966.hp2 NA18970.hp2 NA18992.hp1 NA19002.hp1 NA19010.hp1 NA19010.hp2 NA19082.hp1 NA19085.hp1 NA19085.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0010 others(2): Show a0001c0001 a0001c0002 a0001c0010 a0002c0003 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0025 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0012 a0001c0002t0013 a0001c0002t0016 a0001c0002t0044 a0001c0002t0049 a0001c0010t0007 a0002c0003t0002 a0002c0003t0005 a0002c0007t0002 a0002c0007t0005	a0001c0001t0001g0070 a0001c0001t0002g0042 a0001c0001t0007g0043 others(28): Show a0001c0001t0001g0070 a0001c0001t0002g0042 a0001c0001t0007g0043 a0001c0001t0008g0054 a0001c0001t0010g0035 a0001c0001t0025g0060 a0001c0002t0002g0041 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0049 a0001c0002t0002g0063 a0001c0002t0003g0055 a0001c0002t0003g0074 a0001c0002t0005g0064 a0001c0002t0006g0050 a0001c0002t0006g0052 a0001c0002t0008g0040 a0001c0002t0012g0039 a0001c0002t0013g0034 a0001c0002t0016g0045 a0001c0002t0044g0038 a0001c0002t0049g0059 a0001c0010t0007g0044 a0002c0003t0002g0056 a0002c0003t0002g0057 a0002c0003t0002g0079 a0002c0003t0005g0053 a0002c0003t0005g0080 a0002c0007t0002g0048 a0002c0007t0005g0061 a0002c0007t0005g0062	31	196	0.1582	28	c.287 others(47): Show c.287-48505_287-48504insTATATACATATATATATATATATATA TA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20600771	C C	CATATATA others(21): Show CATATATATATATATATATATATATACAT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0072 a0001c0001t0014g0072	1	196	0.0051	28	c.287 others(47): Show c.287-48505_287-48504insTATATATACATATATATATATATATA TA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20600771	C C	CATATATA others(21): Show CATATATATATATATATATGTATACATAT	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0036 a0002c0003t0005g0036	1	196	0.0051	28	c.287 others(47): Show c.287-48505_287-48504insTGTATACATATATATATATATATATA TA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20799040	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	196	0.0051	28	c.638 others(47): Show c.638+17777_638+17804dupTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21003369	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	196	0.0051	28	c.105 others(47): Show c.1055+2998_1055+2999insCACACACACACACACACACACACACA CA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21003371	T T	TATACACA others(21): Show TATACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	196	0.0051	28	c.105 others(47): Show c.1055+3000_1055+3001insTACACACACACACACACACACACACA CA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21079976	C C	CTGTGTGT others(21): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01255.hp2 NA19010.hp2 HG01255.hp2 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0003 a0001c0011t0004 a0001c0002t0003 a0001c0011t0004	a0001c0002t0003g0074 a0001c0011t0004g0100 a0001c0002t0003g0074 a0001c0011t0004g0100	2	196	0.0102	28	c.123 others(49): Show c.1236+14754_1236+14781dupGTGTGTGTGTGTGTGTGTGTGTGT GTGT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21192544	T T	TTCAGAGA others(21): Show TTCAGAGAGCTACAATCAAGTTACTACAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03486.hp2 HG06807.hp2 HG03195.hp2 HG03486.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0008 a0001c0006t0039 a0001c0001t0001 a0001c0001t0008 a0001c0006t0039	a0001c0001t0001g0192 a0001c0001t0008g0016 a0001c0006t0039g0091 a0001c0001t0001g0192 a0001c0001t0008g0016 a0001c0006t0039g0091	3	196	0.0153	28	c.130 others(47): Show c.1300-5472_1300-5445dupAGAGCTACAATCAAGTTACTACAATC AG	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKL5_chrX_18420608_18645196	18509197	G G	GCACGCGC others(21): Show GCACGCGCGCGCGCGCGCACACACACACA	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0184 a0001c0001t0004g0184	1	192	0.0052	28	c.65- others(43): Show c.65-1620_65-1619insGCGCGCGCGCGCGCACACACACACACAC	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	2/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18514719	A A	AAAAAAGA others(21): Show AAAAAAGATATTCTGGTTTGGACCTTTAC	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0036 a0004c0003t0036	a0004c0003t0036g0008 a0004c0003t0036g0008	1	192	0.0052	28	c.99+ others(43): Show c.99+3866_99+3893dupAAAAAGATATTCTGGTTTGGACCTTTAC	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	3/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKN1A_chr6_36673714_36692332	36681264	T T	TTTTCTTT others(21): Show TTTTCTTTCTCTCTTTCTTTCCTTCTTTC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01106.hp2 HG02148.hp2 others(8): Show HG01081.hp2 HG01106.hp2 HG02148.hp2 HG03540.hp2 NA18943.hp1 NA18951.hp2 NA18955.hp2 NA18978.hp1 NA18983.hp2 NA19002.hp1 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0002 others(2): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0002 a0002c0002t0018 a0002c0002t0021	a0001c0001t0001g0051 a0001c0001t0001g0116 a0001c0001t0001g0254 others(8): Show a0001c0001t0001g0051 a0001c0001t0001g0116 a0001c0001t0001g0254 a0001c0001t0001g0279 a0001c0001t0001g0347 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0003t0001g0051 a0002c0002t0002g0098 a0002c0002t0018g0099 a0002c0002t0021g0076	11	454	0.0242	28	c.-6+ others(43): Show c.-6+2475_-6+2476insCTCTTTCTTTCCTTCTTTCTTTCTTTCT	CDKN1A	ENSG00000124762.14	transcript	ENST00000244741.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKN2A_chr9_21962752_21979857	21971575	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA19005.hp1 NA19012.hp2 others(1): Show NA18943.hp1 NA19005.hp1 NA19012.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0030 a0001c0001t0002g0039 a0001c0001t0001g0030 a0001c0001t0002g0039	4	416	0.0096	28	c.151 others(43): Show c.151-368_151-367insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CDKN2A	ENSG00000147889.18	transcript	ENST00000304494.10	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21971575	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA19005.hp1 NA19012.hp2 others(1): Show NA18943.hp1 NA19005.hp1 NA19012.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0194 a0001c0001t0001g0229 a0001c0001t0002g0198 others(1): Show a0001c0001t0001g0194 a0001c0001t0001g0229 a0001c0001t0002g0198 a0001c0001t0002g0317	4	404	0.0099	28	c.194 others(43): Show c.194-368_194-367insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21981042	A A	ATATATAT others(21): Show ATATATATATACACGTATATATATATACG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03579.hp2 HG02723.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0356 a0001c0001t0002g0357 a0001c0001t0002g0356 a0001c0001t0002g0357	2	404	0.0050	28	c.194 others(45): Show c.194-9835_194-9834insCGTATATATATATACGTGTATATATATA	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21981042	A A	ATATATAT others(21): Show ATATATATATACACGTGTATATATATACG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03516.hp2 HG01192.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0344 a0001c0001t0002g0358 a0001c0001t0002g0344 a0001c0001t0002g0358	2	404	0.0050	28	c.194 others(45): Show c.194-9835_194-9834insCGTATATATATACACGTGTATATATATA	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21981162	A A	ATATATAT others(21): Show ATATATATACGTGTATATATATATATACG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	404	0.0025	28	c.194 others(45): Show c.194-9955_194-9954insCGTATATATATATATACACGTATATATA	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21990611	T T	TGAGAGAG others(21): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00642.hp2 others(8): Show HG00099.hp2 HG00280.hp1 HG00642.hp2 HG00673.hp2 HG02080.hp2 HG02683.hp1 HG03239.hp2 NA18944.hp1 NA18998.hp2 NA19000.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0024 a0001c0001t0001g0043 a0001c0001t0001g0095 others(8): Show a0001c0001t0001g0024 a0001c0001t0001g0043 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0002g0222	11	404	0.0272	28	c.193 others(45): Show c.193+3500_193+3527dupTCTCTCTCTCTCTCTCTCTCTCTCTCTC	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2D_chr19_10561460_10573979	10570547	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp1 NA18981.hp1 NA18997.hp2 others(2): Show NA18950.hp1 NA18981.hp1 NA18997.hp2 NA19065.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	410	0.0122	28	c.-18 others(39): Show c.-1895_-1894insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CDKN2D	ENSG00000129355.7	transcript	ENST00000393599.3	protein_coding		1569		chr19	TogoVar
CDON_chr11_125951821_126067866	125974402	G G	GAGGGAGG others(21): Show GAGGGAGGAAGGGAGGGAGGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0139 a0002c0003t0001g0139	1	334	0.0030	28	c.335 others(47): Show c.3356+3901_3356+3902insTCCTCCCTCCCTCCCTCCCTTCCTCC CT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	18/19			chr11	TogoVar
CDON_chr11_125951821_126067866	125981366	A A	ACACACAC others(21): Show ACACACACGCACGCACACATGCACATACG	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	334	0.0030	28	c.299 others(43): Show c.2996-65_2996-38dupCGTATGTGCATGTGTGCGTGCGTGTGTG	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	16/19			chr11	TogoVar
CDON_chr11_125951821_126067866	125981970	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0056 a0002c0014t0056	a0002c0014t0056g0249 a0002c0014t0056g0249	1	334	0.0030	28	c.299 others(45): Show c.2996-669_2996-642dupAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	16/19			chr11	TogoVar
CDRT4_chr17_15431015_15472621	15435748	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 NA19067.hp2 HG01346.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0128 a0001c0001t0001g0002 a0001c0001t0001g0128	2	430	0.0047	28	c.20 others(39): Show c.2024_*2025insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CDRT4	ENSG00000239704.12	transcript	ENST00000619038.5	protein_coding		266		chr17	TogoVar
CDRT4_chr17_15431015_15472621	15444714	C C	CAGAGAGA others(21): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0180 a0002c0002t0002g0180	1	430	0.0023	28	c.-47 others(45): Show c.-47-4457_-47-4430dupCTCTCTCTCTCTCTCTCTCTCTCTCTCT	CDRT4	ENSG00000239704.12	transcript	ENST00000619038.5	protein_coding	2/3			chr17	TogoVar
CDS1_chr4_84578127_84656334	84635688	T T	TTCCTTCC others(21): Show TTCCTTCCTTCCTTCCCTCCTTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	384	0.0026	28	c.810 others(43): Show c.810+340_810+341insTTCCTTCCTTCCCTCCTTCCCTCCCTCC	CDS1	ENSG00000163624.6	transcript	ENST00000295887.6	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
CDS1_chr4_84578127_84656334	84635688	T T	TTCCTTCC others(21): Show TTCCTTCCTTCCTTCCTTCCCTCCTTCCC	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	384	0.0026	28	c.810 others(43): Show c.810+340_810+341insTTCCTTCCTTCCTTCCCTCCTTCCCTCC	CDS1	ENSG00000163624.6	transcript	ENST00000295887.6	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
CDYL2_chr16_80592907_80809598	80712187	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02895.hp1 HG02897.hp2 HG02647.hp1 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0014 a0001c0002t0004g0015 a0001c0002t0004g0016 a0001c0002t0004g0014 a0001c0002t0004g0015 a0001c0002t0004g0016	3	258	0.0116	28	c.25- others(45): Show c.25-27059_25-27058insTATATATATATATATATATATATATATA	CDYL2	ENSG00000166446.15	transcript	ENST00000570137.7	protein_coding	1/6			chr16	TogoVar

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