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
CSNK1G2_chr19_1936172_1986338	1983398	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0233 a0001c0001t0002g0233	1	382	0.0026	11	c.31 others(22): Show c.3195_*3196insAAAAAAAAAAA	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding		2061		chr19	TogoVar
CSNK2A1_chr20_467498_548790	485099	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG04184.hp2 NA19066.hp1 HG03516.hp2 HG04184.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0040 a0001c0001t0002g0276 a0001c0001t0003g0159 a0001c0001t0001g0040 a0001c0001t0002g0276 a0001c0001t0003g0159	3	316	0.0095	11	c.106 others(30): Show c.1061-1024_1061-1023insATATATATATA	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A1_chr20_467498_548790	485101	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	316	0.0032	11	c.106 others(30): Show c.1061-1026_1061-1025insATATATATATA	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A1_chr20_467498_548790	485103	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02738.hp1 NA18989.hp1 HG00741.hp1 HG02738.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0033 a0001c0001t0058 a0001c0001t0003 a0001c0001t0033 a0001c0001t0058	a0001c0001t0003g0212 a0001c0001t0033g0156 a0001c0001t0058g0260 a0001c0001t0003g0212 a0001c0001t0033g0156 a0001c0001t0058g0260	3	316	0.0095	11	c.106 others(30): Show c.1061-1028_1061-1027insATATATATATA	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A1_chr20_467498_548790	485109	A A	AAATATAT others(4): Show AAATATATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0160 a0001c0001t0005g0160	1	316	0.0032	11	c.106 others(30): Show c.1061-1034_1061-1033insATATATATATT	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A2_chr16_58152907_58203106	58155748	G G	GTGTGTGT others(4): Show GTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	400	0.0025	11	c.26 others(22): Show c.2622_*2623insACACACACACA	CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding		2158		chr16	TogoVar
CSNK2A2_chr16_58152907_58203106	58171979	A A	ATATATAT others(4): Show ATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0310 a0001c0001t0002g0310	1	400	0.0025	11	c.429 others(28): Show c.429+2471_429+2472insAAAAATATATA	CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding	5/11			chr16	TogoVar
CSNK2A2_chr16_58152907_58203106	58171980	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02027.hp2 HG02647.hp1 others(6): Show HG00544.hp2 HG02027.hp2 HG02647.hp1 HG02723.hp1 HG03942.hp2 NA18959.hp2 NA18984.hp2 NA19057.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0187 a0001c0001t0001g0203 others(5): Show a0001c0001t0001g0024 a0001c0001t0001g0187 a0001c0001t0001g0203 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0225	9	400	0.0225	11	c.429 others(28): Show c.429+2470_429+2471insTATATATATAT	CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding	5/11			chr16	TogoVar
CSNKA2IP_chr3_88333456_88472594	88445275	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02080.hp2 HG02083.hp1 others(3): Show HG02027.hp2 HG02080.hp2 HG02083.hp1 NA18966.hp2 NA19060.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0331 a0001c0001t0002g0339 a0001c0001t0002g0345 others(3): Show a0001c0001t0002g0331 a0001c0001t0002g0339 a0001c0001t0002g0345 a0001c0001t0002g0350 a0001c0001t0002g0358 a0001c0001t0002g0361	6	386	0.0155	11	c.-27 others(32): Show c.-270-19798_-270-19788dupAAAAAAAAAAA	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CSPG5_chr3_47557238_47583865	47559383	A A	ATATATAT others(4): Show ATATATATATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0143 a0003c0003t0001g0143	1	362	0.0028	11	c.32 others(22): Show c.3216_*3217insAAATATATATA	CSPG5	ENSG00000114646.10	transcript	ENST00000264723.9	protein_coding		2854		chr3	TogoVar
CSPG5_chr3_47557238_47583865	47573533	G G	GTGGGTTT others(4): Show GTGGGTTTTAGC	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	362	0.0028	11	c.119 others(28): Show c.1194-670_1194-660dupGCTAAAACCCA	CSPG5	ENSG00000114646.10	transcript	ENST00000264723.9	protein_coding	2/4			chr3	TogoVar
CSPP1_chr8_67059392_67201614	67104966	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0031 a0002c0004t0003g0031	1	158	0.0063	11	c.102 others(28): Show c.1023-938_1023-937insATATATATATT	CSPP1	ENSG00000104218.16	transcript	ENST00000678616.1	protein_coding	8/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
CSPP1_chr8_67059392_67201614	67104966	A A	ATATATAT others(4): Show ATATATATATTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0143 a0004c0005t0004g0143	1	158	0.0063	11	c.102 others(28): Show c.1023-938_1023-937insATATATATTTT	CSPP1	ENSG00000104218.16	transcript	ENST00000678616.1	protein_coding	8/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
CSPP1_chr8_67059392_67201614	67104967	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0131 a0002c0002t0002g0131	1	158	0.0063	11	c.102 others(28): Show c.1023-938_1023-937insATATATATATA	CSPP1	ENSG00000104218.16	transcript	ENST00000678616.1	protein_coding	8/30			chr8	TogoVar
CSPP1_chr8_67059392_67201614	67159957	C C	CCTTCTTC others(4): Show CCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0133 a0002c0002t0005g0133	1	158	0.0063	11	c.253 others(28): Show c.2538+820_2538+821insCTTCTTCTTCT	CSPP1	ENSG00000104218.16	transcript	ENST00000678616.1	protein_coding	21/30			chr8	TogoVar
CSPP1_chr8_67059392_67201614	67159957	C C	CTTTTCTT others(4): Show CTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03491.hp1 HG04228.hp1 HG02258.hp1 HG03491.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0050 a0001c0001t0001g0066 a0001c0001t0001g0068	3	158	0.0190	11	c.253 others(28): Show c.2538+823_2538+824insTCTTTTCTTTT	CSPP1	ENSG00000104218.16	transcript	ENST00000678616.1	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
CSRNP2_chr12_51056205_51088596	51072562	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	420	0.0024	11	c.411 others(28): Show c.411+1250_411+1260dupTTTTTTTTTTT	CSRNP2	ENSG00000110925.7	transcript	ENST00000228515.6	protein_coding	3/4			chr12	TogoVar
CSRNP3_chr2_165464698_165694407	165653972	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0120 a0001c0001t0030g0120	1	246	0.0041	11	c.149 others(28): Show c.149-3763_149-3753dupAAAAAAAAAAA	CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSRP3_chr11_19177030_19206983	19197501	C C	CTCTTCTT others(4): Show CTCTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	416	0.0024	11	c.-29 others(28): Show c.-29+4452_-29+4453insAAGAAAGAAGA	CSRP3	ENSG00000129170.10	transcript	ENST00000265968.9	protein_coding	1/5			chr11	TogoVar
CSRP3_chr11_19177030_19206983	19197572	T T	TTTCTTTC others(4): Show TTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	416	0.0024	11	c.-29 others(28): Show c.-29+4381_-29+4382insGAAAGAAAGAA	CSRP3	ENSG00000129170.10	transcript	ENST00000265968.9	protein_coding	1/5			chr11	TogoVar
CST1_chr20_23742562_23755935	23747030	A A	ACACACAC others(4): Show ACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	472	0.0021	11	c.78 others(20): Show c.785_*786insGTGTGTGTGTG	CST1	ENSG00000170373.9	transcript	ENST00000304749.7	protein_coding		531		chr20	TogoVar
CST8_chr20_23486117_23501010	23490304	A A	ATATATAT others(4): Show ATATATATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01891.hp2 HG02559.hp1 others(10): Show HG01109.hp2 HG01891.hp2 HG02559.hp1 HG02572.hp1 HG02717.hp2 HG03654.hp2 HG03831.hp1 HG03942.hp2 NA18747.hp2 NA18981.hp1 NA19000.hp2 NA19063.hp1 NA19091.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 a0003c0005t0001g0015 a0003c0005t0001g0037	13	440	0.0296	11	c.-11 others(22): Show c.-1182_-1181insTATATATAAAT	CST8	ENSG00000125815.9	transcript	ENST00000246012.2	protein_coding		812		chr20	TogoVar
CST9L_chr20_23559732_23573484	23559786	T T	TTGTTTTC others(4): Show TTGTTTTCTGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	392	0.0026	11	c.51 others(22): Show c.5161_*5162insGCCAGAAAACA	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		4945		chr20	TogoVar
CST9L_chr20_23559732_23573484	23560967	C C	CTTTCTTT others(4): Show CTTTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	392	0.0026	11	c.39 others(22): Show c.3980_*3981insAAAGAAAGAAA	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3764		chr20	TogoVar
CST9L_chr20_23559732_23573484	23561060	C C	CTTCTTTC others(4): Show CTTCTTTCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	392	0.0026	11	c.38 others(22): Show c.3887_*3888insAGAAGAAAGAA	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3671		chr20	TogoVar
CST9L_chr20_23559732_23573484	23561083	C C	CTTTCTTT others(4): Show CTTTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	392	0.0026	11	c.38 others(22): Show c.3864_*3865insAAAGAAAGAAA	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3648		chr20	TogoVar
CST9L_chr20_23559732_23573484	23561084	C C	CTTCTTTC others(4): Show CTTCTTTCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	392	0.0026	11	c.38 others(22): Show c.3863_*3864insAGAAGAAAGAA	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3647		chr20	TogoVar
CSTF1_chr20_56387645_56411362	56404812	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0094 a0001c0001t0040g0094	1	422	0.0024	11	c.11 others(22): Show c.1101_*1111dupTTTTTTTTTTT	CSTF1	ENSG00000101138.12	transcript	ENST00000217109.9	protein_coding	6/6	1112	INFO_REALIGN_3_PRIME	chr20	TogoVar
CSTF2T_chr10_51690486_51704595	51704275	A A	AGATAGAT others(4): Show AGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0000 a0001c0004t0002g0000	1	428	0.0023	11	c.-47 others(22): Show c.-4727_-4726insATCTATCTATC	CSTF2T	ENSG00000177613.9	transcript	ENST00000331173.6	protein_coding		4681		chr10	TogoVar
CSTF3_chr11_33079584_33166480	33114463	A A	AAAAATCC others(4): Show AAAAATCCCAAT	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0110	1	360	0.0028	11	c.226 others(28): Show c.226-6046_226-6045insATTGGGATTTT	CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding	3/20			chr11	TogoVar
CSTF3_chr11_33079584_33166480	33163925	A A	ATATATAT others(4): Show ATATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 NA19000.hp2 HG02723.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0252 a0001c0001t0004g0192 a0001c0001t0001g0252 a0001c0001t0004g0192	2	360	0.0056	11	c.-26 others(22): Show c.-2601_-2600insAAATATATATA	CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding		2446		chr11	TogoVar
CSTF3_chr11_33079584_33166480	33163926	T T	TATATATA others(4): Show TATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	360	0.0028	11	c.-26 others(22): Show c.-2602_-2601insTATATATATAT	CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding		2447		chr11	TogoVar
CSTPP1_chr11_46931761_47167247	47101164	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	224	0.0045	11	c.281 others(30): Show c.281-36466_281-36456dupTTTTTTTTTTT	CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
CSTPP1_chr11_46931761_47167247	47122089	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03710.hp2 HG03688.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0153 a0001c0001t0001g0092 a0001c0001t0001g0153	2	224	0.0089	11	c.281 others(30): Show c.281-15556_281-15555insTATATATATAT	CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	3/8			chr11	TogoVar
CSTPP1_chr11_46931761_47167247	47122091	A A	AAAAAAAA others(4): Show AAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0086 a0002c0002t0001g0086	1	224	0.0045	11	c.281 others(30): Show c.281-15553_281-15552insAAAAAAATATA	CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
CSTPP1_chr11_46931761_47167247	47122091	A A	AAAAAAAT others(4): Show AAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	224	0.0045	11	c.281 others(30): Show c.281-15553_281-15552insAAAAATATATA	CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
CSTPP1_chr11_46931761_47167247	47122091	A A	AAATATAT others(4): Show AAATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	224	0.0045	11	c.281 others(30): Show c.281-15553_281-15552insATATATATATA	CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
CSTPP1_chr11_46931761_47167247	47122091	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	224	0.0045	11	c.281 others(30): Show c.281-15554_281-15553insTATATATATAT	CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	3/8			chr11	TogoVar
CT45A6_chrX_135789685_135807787	135803898	A A	AAAGAAAG others(4): Show AAAGAAAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00558.hp1 HG00558.hp2 others(21): Show HG00099.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00642.hp1 HG01081.hp1 HG01081.hp2 HG01928.hp1 HG02056.hp1 HG02165.hp1 HG02300.hp1 HG02922.hp1 HG03453.hp1 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 NA18522.hp1 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA20805.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0002c0003 a0005c0004 others(1): Show a0001c0001 a0002c0003 a0005c0004 a0006c0005	a0001c0001t0001 a0002c0003t0001 a0005c0004t0002 others(1): Show a0001c0001t0001 a0002c0003t0001 a0005c0004t0002 a0006c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(18): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0002c0003t0001g0008 a0002c0003t0001g0015 a0005c0004t0002g0017 a0006c0005t0001g0025	24	36	0.6667	11	c.-13 others(22): Show c.-1395_-1394insCTCTCTTTCTT	CT45A6	ENSG00000278289.5	transcript	ENST00000620654.2	protein_coding		1112		chrX	TogoVar
CT45A7_chrX_135824229_135842280	135838419	A A	AAAGAAAG others(4): Show AAAGAAAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG03139.hp1 HG01109.hp1 HG03139.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0004 a0002c0002t0001 a0003c0003t0004	a0002c0002t0001g0005 a0003c0003t0004g0002 a0002c0002t0001g0005 a0003c0003t0004g0002	2	19	0.1053	11	c.-13 others(22): Show c.-1385_-1384insCTCTCTTTCTT	CT45A7	ENSG00000273696.5	transcript	ENST00000610598.5	protein_coding		1140		chrX	TogoVar
CT45A9_chrX_135858418_135876812	135863284	A A	ACACACAC others(4): Show ACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	13	0.0769	11	c.68 others(20): Show c.686_*687insGTGTGTGTGTG	CT45A9	ENSG00000270946.6	transcript	ENST00000620704.5	protein_coding		133		chrX	TogoVar
CT45A9_chrX_135858418_135876812	135863321	A A	ACACACAC others(4): Show ACACACACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	13	0.0769	11	c.64 others(20): Show c.649_*650insATGTGTGTGTG	CT45A9	ENSG00000270946.6	transcript	ENST00000620704.5	protein_coding		96		chrX	TogoVar
CTBP2_chr10_124979317_125033071	125031488	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0021 a0021	a0021c0030 a0021c0030	a0021c0030t0101 a0021c0030t0101	a0021c0030t0101g0261 a0021c0030t0101g0261	1	380	0.0026	11	c.-37 others(22): Show c.-3740_-3730dupTTTTTTTTTTT	CTBP2	ENSG00000175029.17	transcript	ENST00000309035.11	protein_coding		3418		chr10	TogoVar
CTBS_chr1_84544611_84579440	84560097	A A	AAAGAAAG others(4): Show AAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA19063.hp2 NA18988.hp2 NA19063.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0014 a0002c0003t0014	a0002c0003t0014g0058 a0002c0003t0014g0059 a0002c0003t0014g0058 a0002c0003t0014g0059	2	340	0.0059	11	c.957 others(28): Show c.957+3159_957+3160insCTTTCTTTCTT	CTBS	ENSG00000117151.13	transcript	ENST00000370630.6	protein_coding	6/6			chr1	TogoVar
CTC1_chr17_8219815_8253056	8237665	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0095 a0001c0002t0003g0095	1	402	0.0025	11	c.648 others(26): Show c.648-157_648-147dupTTTTTTTTTTT	CTC1	ENSG00000178971.17	transcript	ENST00000651323.1	protein_coding	4/22			chr17	TogoVar
CTC1_chr17_8219815_8253056	8248410	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG02055.hp1 HG02145.hp2 others(1): Show HG01358.hp1 HG02055.hp1 HG02145.hp2 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0013 a0001c0002t0004 a0001c0002t0013	a0001c0002t0004g0137 a0001c0002t0004g0209 a0001c0002t0013g0125 others(1): Show a0001c0002t0004g0137 a0001c0002t0004g0209 a0001c0002t0013g0125 a0001c0002t0013g0245	4	402	0.0100	11	c.-38 others(20): Show c.-385_-375dupAAAAAAAAAAA	CTC1	ENSG00000178971.17	transcript	ENST00000651323.1	protein_coding		355		chr17	TogoVar
CTCFL_chr20_57492166_57530140	57499073	C C	CGGGGGGG others(4): Show CGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0287 a0003c0003t0002g0287	1	424	0.0024	11	c.184 others(28): Show c.1841-373_1841-372insCCCCCCCCCCC	CTCFL	ENSG00000124092.13	transcript	ENST00000243914.8	protein_coding	10/10			chr20	TogoVar
CTCFL_chr20_57492166_57530140	57499085	G G	GGGGGGGG others(4): Show GGGGGGGGGGGT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0317 a0003c0003t0002g0317	1	424	0.0024	11	c.184 others(28): Show c.1841-385_1841-384insACCCCCCCCCC	CTCFL	ENSG00000124092.13	transcript	ENST00000243914.8	protein_coding	10/10			chr20	TogoVar
CTCF_chr16_67557526_67644177	67584334	C C	CGTCTTCT others(4): Show CGTCTTCTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0147 a0001c0001t0002g0147	1	168	0.0060	11	c.-10 others(30): Show c.-10+13070_-10+13071insGTCTTCTTTTT	CTCF	ENSG00000102974.16	transcript	ENST00000264010.10	protein_coding	2/11			chr16	TogoVar
CTCF_chr16_67557526_67644177	67584337	C C	CTTCTTTT others(4): Show CTTCTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03209.hp1 NA18995.hp2 HG03098.hp2 HG03209.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0006g0135 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0006g0135	3	168	0.0179	11	c.-10 others(30): Show c.-10+13075_-10+13076insCTTTTTTTTTT	CTCF	ENSG00000102974.16	transcript	ENST00000264010.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr16	TogoVar

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