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
CSNK1A1_chr5_149487982_149556439	149490985	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0099 a0001c0001t0018g0099	1	390	0.0026	24	c.58 others(35): Show c.5867_*5868insTATATATATATATATATATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding		1996		chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149544735	C C	CTATATAT others(17): Show CTATATATATATATACATATATATA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0383 a0001c0001t0002g0383	1	390	0.0026	24	c.230 others(41): Show c.230+5339_230+5340insTATATATATGTATATATATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149544735	C C	CTATATAT others(17): Show CTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18906.hp2 NA18939.hp1 others(1): Show NA18522.hp2 NA18906.hp2 NA18939.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0002 a0001c0001t0014	a0001c0001t0002g0375 a0001c0001t0002g0376 a0001c0001t0002g0377 others(1): Show a0001c0001t0002g0375 a0001c0001t0002g0376 a0001c0001t0002g0377 a0001c0001t0014g0170	4	390	0.0103	24	c.230 others(41): Show c.230+5339_230+5340insTATATATATATATATATATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149544737	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01074.hp2 HG01175.hp1 others(7): Show HG00280.hp1 HG01074.hp2 HG01175.hp1 HG01175.hp2 HG01515.hp1 HG02109.hp1 HG02165.hp2 HG02717.hp2 HG02809.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010	a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 others(7): Show a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0220 a0001c0001t0003g0226 a0001c0001t0008g0124 a0001c0001t0008g0125 a0001c0001t0008g0128 a0001c0001t0010g0126 a0001c0001t0010g0127	10	390	0.0256	24	c.230 others(41): Show c.230+5314_230+5337dupTATATATATATATATATATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1D_chr17_82237667_82278700	82260587	C C	CTGACTGA others(17): Show CTGACTGATGGTGTACTGAGTGACG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02109.hp1 HG02622.hp2 others(4): Show HG01255.hp1 HG02109.hp1 HG02622.hp2 HG02886.hp2 HG02922.hp2 NA18906.hp2 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0070 a0001c0001t0004g0148 a0001c0001t0004g0149 others(4): Show a0001c0001t0001g0070 a0001c0001t0004g0148 a0001c0001t0004g0149 a0001c0001t0004g0150 a0001c0001t0004g0151 a0001c0001t0004g0152 a0001c0001t0004g0153	7	320	0.0219	24	c.188 others(41): Show c.188-5034_188-5011dupCGTCACTCAGTACACCATCAGTCA	CSNK1D	ENSG00000141551.15	transcript	ENST00000314028.11	protein_coding	2/8			chr17	TogoVar
CSNK1D_chr17_82237667_82278700	82260634	C C	CGTGACTG others(17): Show CGTGACTGATGGTGTACTGACTGAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	320	0.0031	24	c.187 others(41): Show c.187+5028_187+5051dupATCAGTCAGTACACCATCAGTCAC	CSNK1D	ENSG00000141551.15	transcript	ENST00000314028.11	protein_coding	2/8			chr17	TogoVar
CSNK1G1_chr15_64160525_64361173	64229902	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	176	0.0057	24	c.293 others(43): Show c.293-13213_293-13190dupAAAAAAAAAAAAAAAAAAAAAAAA	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	4/11			chr15	TogoVar
CSNK1G1_chr15_64160525_64361173	64238518	A A	AAAAAAAA others(17): Show AAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02630.hp2 HG01934.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0151 a0001c0001t0007g0111 a0001c0001t0003g0151 a0001c0001t0007g0111	2	176	0.0114	24	c.292 others(43): Show c.292+12993_292+12994insATATATATATATATATATTTTTTT	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	4/11			chr15	TogoVar
CSNK1G1_chr15_64160525_64361173	64343208	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01069.hp1 HG01257.hp1 others(18): Show HG00323.hp2 HG01069.hp1 HG01257.hp1 HG01934.hp2 HG02109.hp1 HG02622.hp1 HG02698.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02976.hp1 HG03139.hp1 HG03486.hp1 HG03540.hp2 HG03654.hp1 HG03927.hp2 HG06807.hp1 NA18957.hp2 NA19030.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0006	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0026 a0001c0002t0001 a0001c0003t0001 a0002c0006t0001	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0050 others(18): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0050 a0001c0001t0001g0075 a0001c0001t0005g0167 a0001c0001t0005g0169 a0001c0001t0005g0175 a0001c0001t0007g0112 a0001c0001t0008g0137 a0001c0001t0008g0138 a0001c0001t0008g0141 a0001c0001t0008g0142 a0001c0001t0011g0106 a0001c0001t0026g0173 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0063 a0001c0002t0001g0079 a0001c0002t0001g0082 a0001c0003t0001g0088 a0002c0006t0001g0059	21	176	0.1193	24	c.-22 others(45): Show c.-225+12756_-225+12779dupGTGTGTGTGTGTGTGTGTGTGTGT	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	1/11			chr15	TogoVar
CSNK1G1_chr15_64160525_64361173	64352447	C C	CTTCTTTT others(17): Show CTTCTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02735.hp2 HG02698.hp1 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0113 a0001c0001t0007g0114 a0001c0001t0007g0113 a0001c0001t0007g0114	2	176	0.0114	24	c.-22 others(43): Show c.-225+3540_-225+3541insAAAAAAAAAAAAAAAAAAAAAGAA	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	1/11			chr15	TogoVar
CSNK1G2_chr19_1936172_1986338	1946289	T T	TATTTATT others(17): Show TATTTATTTATTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00741.hp2 HG00738.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0103 a0001c0001t0014g0104 a0001c0001t0001g0103 a0001c0001t0014g0104	2	382	0.0052	24	c.-26 others(43): Show c.-266+4871_-266+4872insATTTATTTATTATTTATTTATTTA	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11			chr19	TogoVar
CSNK1G2_chr19_1936172_1986338	1946289	T T	TATTTATT others(17): Show TATTTATTTATTTATTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18947.hp1 HG00597.hp2 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0092 a0001c0001t0004g0153 a0001c0001t0001g0092 a0001c0001t0004g0153	2	382	0.0052	24	c.-26 others(43): Show c.-266+4871_-266+4872insATTTATTTATTTATTATTTATTTA	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11			chr19	TogoVar
CSNK2A1_chr20_467498_548790	485100	A A	AAATAATA others(17): Show AAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0279 a0001c0001t0034g0279	1	316	0.0032	24	c.106 others(43): Show c.1061-1025_1061-1024insATTATTATTATTATTATTATTATT	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A1_chr20_467498_548790	485107	A A	ATAATAAT others(17): Show ATAATAATAATAATAATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0006 a0001c0001t0036g0006	1	316	0.0032	24	c.106 others(43): Show c.1061-1032_1061-1031insATATATATATTATTATTATTATTA	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A1_chr20_467498_548790	485109	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG03486.hp2 HG02004.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0023 a0001c0001t0002 a0001c0001t0023	a0001c0001t0002g0095 a0001c0001t0023g0244 a0001c0001t0002g0095 a0001c0001t0023g0244	2	316	0.0063	24	c.106 others(43): Show c.1061-1057_1061-1034dupATATATATATATATATATATATAT	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A1_chr20_467498_548790	523858	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0005 a0001c0001t0037g0005	1	316	0.0032	24	c.-11 others(43): Show c.-110+4074_-110+4075insTTTTTTTTTTTTTTTTTTTTTTTT	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	2/13			chr20	TogoVar
CSNK2A1_chr20_467498_548790	527001	C C	CAGACAGA others(17): Show CAGACAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	316	0.0032	24	c.-11 others(41): Show c.-110+931_-110+932insCTCTCTCTCTCTCTCTCTCTGTCT	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	2/13			chr20	TogoVar
CSNK2A2_chr16_58152907_58203106	58171958	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0244 a0001c0001t0003g0244	1	400	0.0025	24	c.429 others(41): Show c.429+2492_429+2493insATATATATATATATATATATATAT	CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding	5/11			chr16	TogoVar
CSNK2A2_chr16_58152907_58203106	58171979	A A	ATATATAT others(17): Show ATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0178 a0001c0001t0004g0178	1	400	0.0025	24	c.429 others(41): Show c.429+2471_429+2472insAATATATATATATATATATATATA	CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding	5/11			chr16	TogoVar
CSNKA2IP_chr3_88333456_88472594	88411383	A A	ATCTATCT others(17): Show ATCTATCTATCTATCTATCTATCTG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0243 a0006c0008t0001g0243	1	386	0.0026	24	c.-27 others(45): Show c.-270-53683_-270-53682insTGTCTATCTATCTATCTATCTATC	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CSNKA2IP_chr3_88333456_88472594	88445275	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0223 a0001c0004t0001g0223	1	386	0.0026	24	c.-27 others(45): Show c.-270-19811_-270-19788dupAAAAAAAAAAAAAAAAAAAAAAAA	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CSNKA2IP_chr3_88333456_88472594	88445976	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTCTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0199 a0002c0011t0001g0199	1	386	0.0026	24	c.-27 others(45): Show c.-270-19109_-270-19108insCTCTCTCTCTCTTTCTTTCTTTCT	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CSNKA2IP_chr3_88333456_88472594	88449874	T T	TAGAGAGA others(17): Show TAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01433.hp1 HG01515.hp2 others(3): Show HG01167.hp2 HG01433.hp1 HG01515.hp2 HG02129.hp1 HG03831.hp2 NA19063.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0005c0007t0002 a0001c0001t0001 a0001c0001t0002 a0005c0007t0002	a0001c0001t0001g0195 a0001c0001t0002g0285 a0001c0001t0002g0298 others(3): Show a0001c0001t0001g0195 a0001c0001t0002g0285 a0001c0001t0002g0298 a0001c0001t0002g0346 a0001c0001t0002g0351 a0005c0007t0002g0288	6	386	0.0155	24	c.-27 others(45): Show c.-270-15194_-270-15193insAGAGAGAGAGAGAGAGAGAGAGAG	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CSPP1_chr8_67059392_67201614	67184744	T T	TATAATAA others(17): Show TATAATAATAATAATAATAATAATA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03540.hp1 NA18906.hp2 HG03516.hp1 HG03540.hp1 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0110 a0002c0002t0002g0138 a0002c0002t0002g0139 a0002c0002t0002g0110 a0002c0002t0002g0138 a0002c0002t0002g0139	3	158	0.0190	24	c.322 others(43): Show c.3220+4820_3220+4843dupTAATAATAATAATAATAATAATAA	CSPP1	ENSG00000104218.16	transcript	ENST00000678616.1	protein_coding	28/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
CSRNP3_chr2_165464698_165694407	165466966	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01891.hp2 NA20129.hp1 HG00741.hp1 HG01891.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0028 a0001c0002t0006 a0001c0002t0037 a0001c0001t0028 a0001c0002t0006 a0001c0002t0037	a0001c0001t0028g0074 a0001c0002t0006g0080 a0001c0002t0037g0243 a0001c0001t0028g0074 a0001c0002t0006g0080 a0001c0002t0037g0243	3	246	0.0122	24	c.-30 others(35): Show c.-3057_-3056insATATATATATATATATATATATAT	CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding		2731		chr2	TogoVar
CSRNP3_chr2_165464698_165694407	165477483	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03834.hp1 HG03490.hp2 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0012 a0001c0002t0006 a0001c0002t0012	a0001c0002t0006g0070 a0001c0002t0012g0071 a0001c0002t0006g0070 a0001c0002t0012g0071	2	246	0.0081	24	c.-28 others(43): Show c.-283+7758_-283+7759insTATATATATATATATATATATATA	CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSRNP3_chr2_165464698_165694407	165599283	G G	GAGAAAGA others(17): Show GAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01261.hp1 HG01261.hp2 others(5): Show HG01099.hp2 HG01261.hp1 HG01261.hp2 HG01891.hp2 HG02809.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 others(4): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0002t0001 a0001c0002t0037 a0001c0002t0082 a0002c0003t0010	a0001c0001t0003g0240 a0001c0001t0004g0145 a0001c0001t0009g0231 others(5): Show a0001c0001t0003g0240 a0001c0001t0004g0145 a0001c0001t0009g0231 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0037g0243 a0001c0002t0082g0199 a0002c0003t0010g0067	8	246	0.0325	24	c.148 others(41): Show c.148+4093_148+4116dupAAAGAAAGAAAGAAAGAAAGAAAG	CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSRNP3_chr2_165464698_165694407	165665775	A A	AAGAGAGA others(17): Show AAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0180 a0001c0001t0013g0180	1	246	0.0041	24	c.408 others(41): Show c.408+7759_408+7782dupGAGAGAGAGAGAGAGAGAGAGAGA	CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSRNP3_chr2_165464698_165694407	165674681	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02886.hp2 HG02818.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0048 a0001c0001t0007g0203 a0001c0001t0007g0048 a0001c0001t0007g0203	2	246	0.0081	24	c.409 others(41): Show c.409-1621_409-1598dupTATATATATATATATATATATATA	CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSRP3_chr11_19177030_19206983	19197501	C C	CTCTTTCG others(17): Show CTCTTTCGTTCTTTCCTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0228	1	416	0.0024	24	c.-29 others(41): Show c.-29+4452_-29+4453insAAGAAAGAAGGAAAGAACGAAAGA	CSRP3	ENSG00000129170.10	transcript	ENST00000265968.9	protein_coding	1/5			chr11	TogoVar
CSRP3_chr11_19177030_19206983	19197501	C C	CTCTTTCG others(17): Show CTCTTTCGTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	416	0.0024	24	c.-29 others(41): Show c.-29+4452_-29+4453insAAGAAAGAAAGAAAGAACGAAAGA	CSRP3	ENSG00000129170.10	transcript	ENST00000265968.9	protein_coding	1/5			chr11	TogoVar
CSRP3_chr11_19177030_19206983	19197501	C C	CTCTTTCT others(17): Show CTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	416	0.0024	24	c.-29 others(41): Show c.-29+4429_-29+4452dupAAGAAAGAAAGAAAGAAAGAAAGA	CSRP3	ENSG00000129170.10	transcript	ENST00000265968.9	protein_coding	1/5			chr11	TogoVar
CST8_chr20_23486117_23501010	23490278	A A	ATATATAT others(17): Show ATATATATATAAAATATATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 NA18995.hp2 NA19060.hp1 HG02040.hp2 NA18995.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0044 a0001c0001t0001g0002 a0001c0001t0001g0044	3	440	0.0068	24	c.-12 others(35): Show c.-1208_-1207insTATATATATAAAATATATATAATT	CST8	ENSG00000125815.9	transcript	ENST00000246012.2	protein_coding		838		chr20	TogoVar
CST9L_chr20_23559732_23573484	23560913	C C	CTCTCTCT others(17): Show CTCTCTCTTTCTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG01070.hp2 HG01993.hp2 others(1): Show HG00408.hp2 HG01070.hp2 HG01993.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0002 a0001c0001t0001g0010	4	392	0.0102	24	c.40 others(35): Show c.4034_*4035insAAGAAAGAAAGAAAGAAAGAGAGA	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3818		chr20	TogoVar
CST9L_chr20_23559732_23573484	23561076	C C	CTTCTTTC others(17): Show CTTCTTTCTTTCTTTCTTTCTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	392	0.0026	24	c.38 others(35): Show c.3871_*3872insAGAAAGAAAGAAAGAAAGAAAGAA	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3655		chr20	TogoVar
CST9L_chr20_23559732_23573484	23561084	C C	CTTCTTTC others(17): Show CTTCTTTCTTTCTTTCTTTCTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	392	0.0026	24	c.38 others(35): Show c.3863_*3864insAGAAAGAAAGAAAGAAAGAAAGAA	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3647		chr20	TogoVar
CST9L_chr20_23559732_23573484	23561092	C C	CTTCTTTC others(17): Show CTTCTTTCTTTCTTTCTTTCTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	392	0.0026	24	c.38 others(35): Show c.3855_*3856insAGAAAGAAAGAAAGAAAGAAAGAA	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3639		chr20	TogoVar
CSTA_chr3_122320248_122346969	122333540	G G	GAAGAAAG others(17): Show GAAGAAAGAAAAGAAAGAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01981.hp1 HG02602.hp2 others(5): Show HG00438.hp1 HG01981.hp1 HG02602.hp2 HG04199.hp2 NA18939.hp1 NA18964.hp1 NA18988.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0175 a0001c0001t0001g0192 a0001c0001t0001g0008 a0001c0001t0001g0175 a0001c0001t0001g0192	8	378	0.0212	24	c.67- others(39): Show c.67-3997_67-3996insAGAAAGAAGAAAGAAAGAAAGAAA	CSTA	ENSG00000121552.4	transcript	ENST00000264474.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
CSTA_chr3_122320248_122346969	122333540	G G	GAAGAAAG others(17): Show GAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01192.hp1 HG03490.hp2 others(4): Show HG00741.hp1 HG01192.hp1 HG03490.hp2 HG03492.hp2 NA18940.hp2 NA18975.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0169 a0002c0003t0001g0041 a0002c0003t0001g0163 others(3): Show a0001c0001t0001g0169 a0002c0003t0001g0041 a0002c0003t0001g0163 a0002c0003t0001g0164 a0002c0003t0001g0167 a0002c0003t0001g0168	7	378	0.0185	24	c.67- others(39): Show c.67-3977_67-3954dupAGAAAGAAAGAAAGAAAGAAAGAA	CSTA	ENSG00000121552.4	transcript	ENST00000264474.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
CSTB_chr21_43768950_43781308	43776442	C C	CGCGCGGG others(17): Show CGCGCGGGGCGGGGCGCGGGGCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	452	0.0022	24	c.-17 others(33): Show c.-174_-173insCCCGCCCCGCGCCCCGCCCCGCGC	CSTB	ENSG00000160213.10	transcript	ENST00000291568.7	protein_coding		135		chr21	TogoVar
CSTF1_chr20_56387645_56411362	56404812	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp2 HG02055.hp1 HG02056.hp2 others(4): Show HG00639.hp2 HG02055.hp1 HG02056.hp2 HG02145.hp2 HG03453.hp2 NA18948.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0034 a0001c0001t0046 others(2): Show a0001c0001t0029 a0001c0001t0034 a0001c0001t0046 a0001c0001t0047 a0001c0001t0065	a0001c0001t0029g0044 a0001c0001t0029g0072 a0001c0001t0034g0001 others(4): Show a0001c0001t0029g0044 a0001c0001t0029g0072 a0001c0001t0034g0001 a0001c0001t0034g0100 a0001c0001t0046g0039 a0001c0001t0047g0045 a0001c0001t0065g0001	7	422	0.0166	24	c.10 others(35): Show c.1088_*1111dupTTTTTTTTTTTTTTTTTTTTTTTT	CSTF1	ENSG00000101138.12	transcript	ENST00000217109.9	protein_coding	6/6	1112	INFO_REALIGN_3_PRIME	chr20	TogoVar
CSTPP1_chr11_46931761_47167247	47122091	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	224	0.0045	24	c.281 others(43): Show c.281-15553_281-15552insAAAAAAAAAAAATATATATATATA	CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
CSTPP1_chr11_46931761_47167247	47122091	A A	AAAAAAAA others(17): Show AAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	224	0.0045	24	c.281 others(43): Show c.281-15553_281-15552insAAAAAAAAAATATATATATATATA	CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
CT47A6_chrX_120953165_120966487	120954851	G G	GGGCACCT others(17): Show GGGCACCTTCCTACTGGTTTTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	110	0.0091	24	c.34 others(35): Show c.3462_*3485dupTGTGAAAACCAGTAGGAAGGTGCC	CT47A6	ENSG00000226023.6	transcript	ENST00000419194.3	protein_coding		3313		chrX	TogoVar
CTBP1_chr4_1206445_1254130	1249491	C C	CGCCGCAG others(17): Show CGCCGCAGCCGCAGCCGCAGCCGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	422	0.0024	24	c.-76 others(33): Show c.-765_-764insTGCGGCTGCGGCTGCGGCTGCGGC	CTBP1	ENSG00000159692.18	transcript	ENST00000382952.8	protein_coding		362		chr4	TogoVar
CTBP2_chr10_124979317_125033071	124980361	T T	TAGTAAAG others(17): Show TAGTAAAGTATATTTCATTGAACCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0006 a0005c0006t0001g0006	1	380	0.0026	24	c.91 others(35): Show c.9156_*9157insCGGTTCAATGAAATATACTTTACT	CTBP2	ENSG00000175029.17	transcript	ENST00000309035.11	protein_coding		3955		chr10	TogoVar
CTDSP2_chr12_57814927_57851729	57818182	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	346	0.0029	24	c.53 others(35): Show c.5396_*5419dupAAAAAAAAAAAAAAAAAAAAAAAA	CTDSP2	ENSG00000175215.11	transcript	ENST00000398073.7	protein_coding		1744		chr12	TogoVar
CTDSPL2_chr15_44422629_44534038	44506025	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03130.hp2 HG03927.hp1 others(1): Show HG01891.hp2 HG03130.hp2 HG03927.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0003 a0001c0001t0012	a0001c0001t0003g0006 a0001c0001t0003g0013 a0001c0001t0012g0065 others(1): Show a0001c0001t0003g0006 a0001c0001t0003g0013 a0001c0001t0012g0065 a0001c0001t0012g0066	4	234	0.0171	24	c.969 others(41): Show c.969+6234_969+6235insTTTTTTTTTTTTTTTTTTTTTTTT	CTDSPL2	ENSG00000137770.14	transcript	ENST00000260327.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
CTIF_chr18_48534031_48868217	48602850	A A	AATGGATG others(17): Show AATGGATGGATGGATGGATGAATGG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0001 a0001c0001t0006g0001	1	144	0.0069	24	c.-28 others(43): Show c.-28-16669_-28-16668insAATGGATGGATGGATGGATGGATG	CTIF	ENSG00000134030.14	transcript	ENST00000256413.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTIF_chr18_48534031_48868217	48603369	A A	AGATGGAT others(17): Show AGATGGATGGATGGATGGATGGATG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01109.hp2 HG02572.hp1 others(5): Show HG01069.hp2 HG01109.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp2 HG02818.hp1 HG06807.hp2 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0026 a0001c0001t0040 a0004c0008t0006	a0001c0001t0001g0017 a0001c0001t0003g0117 a0001c0001t0004g0008 others(5): Show a0001c0001t0001g0017 a0001c0001t0003g0117 a0001c0001t0004g0008 a0001c0001t0004g0055 a0001c0001t0005g0109 a0001c0001t0026g0061 a0001c0001t0040g0073 a0004c0008t0006g0045	8	144	0.0556	24	c.-28 others(43): Show c.-28-16165_-28-16142dupGGATGGATGGATGGATGGATGGAT	CTIF	ENSG00000134030.14	transcript	ENST00000256413.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr18	TogoVar

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