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
CSMD3_chr8_112217928_113441939	113399106	T T	TATATATA others(11): Show TATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0026 a0001c0015t0001g0026	1	80	0.0125	18	c.178 others(37): Show c.178+37570_178+37571insGTGTGTATATATATATAT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	1/70			chr8	TogoVar
CSN3_chr4_70237597_70256432	70254285	A A	AACACACA others(11): Show AACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	464	0.0022	18	c.30 others(29): Show c.3058_*3059insACACACACACACACACAC	CSN3	ENSG00000171209.4	transcript	ENST00000304954.4	protein_coding		2854		chr4	TogoVar
CSNK1A1_chr5_149487982_149556439	149542622	A A	ATATATAT others(11): Show ATATATATACATGTATGTG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0365 a0001c0001t0002g0365	1	390	0.0026	18	c.230 others(35): Show c.230+7452_230+7453insCACATACATGTATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149544735	C C	CTATATAT others(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp2 HG01978.hp2 others(13): Show HG00140.hp2 HG00438.hp2 HG01978.hp2 HG02040.hp1 HG02132.hp1 HG02572.hp1 HG02622.hp2 HG02647.hp1 HG03669.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18981.hp2 NA18988.hp1 NA19010.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0022 a0001c0001t0024	a0001c0001t0002g0353 a0001c0001t0002g0354 a0001c0001t0002g0355 others(13): Show a0001c0001t0002g0353 a0001c0001t0002g0354 a0001c0001t0002g0355 a0001c0001t0002g0357 a0001c0001t0002g0359 a0001c0001t0002g0360 a0001c0001t0002g0361 a0001c0001t0002g0362 a0001c0001t0002g0364 a0001c0001t0002g0365 a0001c0001t0002g0384 a0001c0001t0003g0168 a0001c0001t0011g0358 a0001c0001t0022g0356 a0001c0001t0022g0363 a0001c0001t0024g0121	16	390	0.0410	18	c.230 others(35): Show c.230+5339_230+5340insTATATATATATATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149544737	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01361.hp2 HG01891.hp2 others(9): Show HG01106.hp2 HG01361.hp2 HG01891.hp2 HG02647.hp2 HG02683.hp1 HG02818.hp2 HG03098.hp2 HG03225.hp2 HG03579.hp1 NA18951.hp2 NA19085.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 others(5): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0015 a0001c0001t0024 a0001c0001t0025 a0001c0001t0036	a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0139 others(9): Show a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0222 a0001c0001t0005g0298 a0001c0001t0008g0166 a0001c0001t0010g0114 a0001c0001t0015g0006 a0001c0001t0024g0113 a0001c0001t0025g0115 a0001c0001t0036g0304	12	390	0.0308	18	c.230 others(35): Show c.230+5320_230+5337dupTATATATATATATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1G1_chr15_64160525_64361173	64229902	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0049 a0001c0005t0001g0049	1	176	0.0057	18	c.293 others(37): Show c.293-13207_293-13190dupAAAAAAAAAAAAAAAAAA	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	4/11			chr15	TogoVar
CSNK1G1_chr15_64160525_64361173	64238510	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0120 a0001c0001t0010g0120	1	176	0.0057	18	c.292 others(37): Show c.292+13001_292+13002insATATATATATATATATAT	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	4/11			chr15	TogoVar
CSNK1G1_chr15_64160525_64361173	64343208	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp1 HG02615.hp2 others(5): Show HG02055.hp2 HG02257.hp1 HG02615.hp2 HG02698.hp1 HG02735.hp1 NA18906.hp1 NA19002.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0020 a0001c0001t0021 a0001c0002t0001	a0001c0001t0001g0010 a0001c0001t0001g0036 a0001c0001t0005g0172 others(5): Show a0001c0001t0001g0010 a0001c0001t0001g0036 a0001c0001t0005g0172 a0001c0001t0006g0103 a0001c0001t0007g0114 a0001c0001t0020g0006 a0001c0001t0021g0109 a0001c0002t0001g0080	8	176	0.0455	18	c.-22 others(39): Show c.-225+12762_-225+12779dupGTGTGTGTGTGTGTGTGT	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	1/11			chr15	TogoVar
CSNK1G2_chr19_1936172_1986338	1939438	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02258.hp1 HG02451.hp1 others(1): Show HG01884.hp2 HG02258.hp1 HG02451.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0020 a0001c0002t0002 a0001c0001t0001 a0001c0001t0020 a0001c0002t0002	a0001c0001t0001g0011 a0001c0001t0001g0098 a0001c0001t0020g0243 others(1): Show a0001c0001t0001g0011 a0001c0001t0001g0098 a0001c0001t0020g0243 a0001c0002t0002g0246	4	382	0.0105	18	c.-22 others(29): Show c.-2246_-2245insTTTTTTTTTTTTTTTTTT	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding		1733		chr19	TogoVar
CSNK1G2_chr19_1936172_1986338	1939444	T T	TTTTTTTT others(11): Show TTTTTTTTTTTTTTTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	382	0.0026	18	c.-22 others(29): Show c.-2240_-2239insTTTTTTTTTTTTTTTTTG	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding		1727		chr19	TogoVar
CSNK1G2_chr19_1936172_1986338	1963043	C C	CCAGGCTC others(11): Show CCAGGCTCAATGAGACACT	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0252 a0001c0001t0007g0252	1	382	0.0026	18	c.-26 others(37): Show c.-265-6463_-265-6446dupAGGCTCAATGAGACACTC	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CSNK1G2_chr19_1936172_1986338	1963065	G G	GGCTCAAT others(11): Show GGCTCAATGAGACACTCCA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0354 a0001c0002t0002g0354	1	382	0.0026	18	c.-26 others(37): Show c.-265-6429_-265-6428insTCCAGCTCAATGAGACAC	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CSNK1G3_chr5_123507177_123622049	123520371	G G	GTGAGATT others(11): Show GTGAGATTTAGGATGATTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	294	0.0034	18	c.-24 others(37): Show c.-248+7803_-248+7820dupGAGATTTAGGATGATTTT	CSNK1G3	ENSG00000151292.19	transcript	ENST00000696905.1	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr5	TogoVar
CSNK1G3_chr5_123507177_123622049	123542849	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0157 a0001c0001t0003g0157	1	294	0.0034	18	c.-24 others(37): Show c.-247-2547_-247-2530dupGTGTGTGTGTGTGTGTGT	CSNK1G3	ENSG00000151292.19	transcript	ENST00000696905.1	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr5	TogoVar
CSNK2A1_chr20_467498_548790	485101	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	316	0.0032	18	c.106 others(37): Show c.1061-1026_1061-1025insATATATATATATATATAT	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A1_chr20_467498_548790	485107	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01928.hp1 HG01167.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0151 a0001c0001t0004g0255 a0001c0001t0003g0151 a0001c0001t0004g0255	2	316	0.0063	18	c.106 others(37): Show c.1061-1032_1061-1031insATATATATATATATATAT	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A1_chr20_467498_548790	485109	A A	AAAAAAAA others(11): Show AAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0136 a0001c0001t0005g0136	1	316	0.0032	18	c.106 others(37): Show c.1061-1034_1061-1033insATATATATATATTTTTTT	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A1_chr20_467498_548790	485109	A A	AAAATATA others(11): Show AAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0135 a0001c0001t0005g0135	1	316	0.0032	18	c.106 others(37): Show c.1061-1034_1061-1033insATATATATATATATATTT	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A1_chr20_467498_548790	527001	C C	CAGACAGA others(11): Show CAGACAGACAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03130.hp1 HG02486.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0031 a0001c0001t0022 a0001c0001t0031	a0001c0001t0022g0029 a0001c0001t0031g0042 a0001c0001t0022g0029 a0001c0001t0031g0042	2	316	0.0063	18	c.-11 others(35): Show c.-110+931_-110+932insCTCTCTCTCTGTCTGTCT	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	2/13			chr20	TogoVar
CSNK2A1_chr20_467498_548790	527001	C C	CAGACAGA others(11): Show CAGACAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01516.hp1 NA18941.hp2 HG01516.hp1 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0084 a0001c0001t0075 a0001c0001t0084	a0001c0001t0075g0090 a0001c0001t0084g0080 a0001c0001t0075g0090 a0001c0001t0084g0080	2	316	0.0063	18	c.-11 others(35): Show c.-110+931_-110+932insCTCTCTCTCTCTCTGTCT	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	2/13			chr20	TogoVar
CSNK2A2_chr16_58152907_58203106	58171958	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA18994.hp1 NA19087.hp2 others(1): Show HG03486.hp2 NA18994.hp1 NA19087.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0287 a0001c0001t0001g0292 others(1): Show a0001c0001t0001g0145 a0001c0001t0001g0287 a0001c0001t0001g0292 a0001c0001t0001g0294	4	400	0.0100	18	c.429 others(35): Show c.429+2475_429+2492dupATATATATATATATATAT	CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding	5/11			chr16	TogoVar
CSNK2A2_chr16_58152907_58203106	58171979	A A	ATATATAT others(11): Show ATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02135.hp1 NA18940.hp2 others(1): Show HG00099.hp1 HG02135.hp1 NA18940.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0284 a0001c0001t0001g0293 a0001c0001t0002g0301 others(1): Show a0001c0001t0001g0284 a0001c0001t0001g0293 a0001c0001t0002g0301 a0001c0001t0002g0303	4	400	0.0100	18	c.429 others(35): Show c.429+2471_429+2472insAATATATATATATATATA	CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding	5/11			chr16	TogoVar
CSNKA2IP_chr3_88333456_88472594	88418463	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGCGCGCGC	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19085.hp1 NA19001.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0106 a0001c0001t0001g0093 a0001c0001t0001g0106	2	386	0.0052	18	c.-27 others(39): Show c.-270-46624_-270-46623insTGTGTGTGTGCGCGCGCG	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(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01069.hp1 HG01192.hp2 others(11): Show HG00423.hp1 HG01069.hp1 HG01192.hp2 HG01358.hp1 HG01928.hp2 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG04199.hp2 NA18965.hp1 NA18974.hp2 NA19068.hp2 NA19082.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0004t0002 a0001c0001t0001 a0001c0004t0001 a0001c0004t0002	a0001c0001t0001g0231 a0001c0004t0001g0104 a0001c0004t0001g0110 others(11): Show a0001c0001t0001g0231 a0001c0004t0001g0104 a0001c0004t0001g0110 a0001c0004t0001g0210 a0001c0004t0001g0211 a0001c0004t0001g0213 a0001c0004t0001g0215 a0001c0004t0001g0217 a0001c0004t0001g0220 a0001c0004t0001g0224 a0001c0004t0001g0229 a0001c0004t0001g0232 a0001c0004t0001g0233 a0001c0004t0002g0281	14	386	0.0363	18	c.-27 others(39): Show c.-270-19805_-270-19788dupAAAAAAAAAAAAAAAAAA	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CSNKA2IP_chr3_88333456_88472594	88449820	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18971.hp1 HG00423.hp2 NA18971.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0001 a0001c0001t0002 a0003c0003t0001	a0001c0001t0002g0353 a0003c0003t0001g0083 a0001c0001t0002g0353 a0003c0003t0001g0083	2	386	0.0052	18	c.-27 others(39): Show c.-270-15250_-270-15233dupCACACACACACACACACA	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CSPP1_chr8_67059392_67201614	67159956	T T	TTTCTTTT others(11): Show TTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	158	0.0063	18	c.253 others(35): Show c.2538+819_2538+820insTTCTTTTCTTTTCTTTTC	CSPP1	ENSG00000104218.16	transcript	ENST00000678616.1	protein_coding	21/30			chr8	TogoVar
CSPP1_chr8_67059392_67201614	67184744	T T	TATAATAA others(11): Show TATAATAATAATAATAATA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02622.hp1 HG02647.hp2 others(2): Show HG02056.hp1 HG02622.hp1 HG02647.hp2 HG03098.hp2 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0111 a0002c0002t0002g0131 a0002c0002t0002g0135 others(2): Show a0002c0002t0002g0111 a0002c0002t0002g0131 a0002c0002t0002g0135 a0002c0002t0002g0136 a0002c0002t0002g0137	5	158	0.0317	18	c.322 others(37): Show c.3220+4826_3220+4843dupTAATAATAATAATAATAA	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(11): Show CATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0095 a0001c0002t0095	a0001c0002t0095g0242 a0001c0002t0095g0242	1	246	0.0041	18	c.-30 others(29): Show c.-3057_-3056insATATATATATATATATAT	CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding		2731		chr2	TogoVar
CSRNP3_chr2_165464698_165694407	165599283	G G	GAGAGAAA others(11): Show GAGAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA19080.hp2 NA18984.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0020 a0001c0001t0015 a0001c0001t0020	a0001c0001t0015g0089 a0001c0001t0020g0088 a0001c0001t0015g0089 a0001c0001t0020g0088	2	246	0.0081	18	c.148 others(35): Show c.148+4073_148+4074insGAAAGAAAGAAAGAAAGA	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(11): Show AAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02559.hp2 HG02809.hp1 HG02258.hp2 HG02559.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0013 a0001c0001t0007 a0001c0001t0013	a0001c0001t0007g0207 a0001c0001t0013g0109 a0001c0001t0013g0200 a0001c0001t0007g0207 a0001c0001t0013g0109 a0001c0001t0013g0200	3	246	0.0122	18	c.408 others(35): Show c.408+7765_408+7782dupGAGAGAGAGAGAGAGAGA	CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSRNP3_chr2_165464698_165694407	165666664	G G	GAAAGGAA others(11): Show GAAAGGAAGGACGGAAGGA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0162 a0001c0002t0001g0162	1	246	0.0041	18	c.408 others(35): Show c.408+8645_408+8646insAAGGAAGGACGGAAGGAA	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(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02630.hp2 NA18961.hp1 HG02572.hp1 HG02630.hp2 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0028 a0001c0001t0002 a0001c0001t0007 a0001c0001t0028	a0001c0001t0002g0230 a0001c0001t0007g0239 a0001c0001t0028g0208 a0001c0001t0002g0230 a0001c0001t0007g0239 a0001c0001t0028g0208	3	246	0.0122	18	c.409 others(35): Show c.409-1615_409-1598dupTATATATATATATATATA	CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSRNP3_chr2_165464698_165694407	165681760	T T	TATATATA others(11): Show TATATATATATATATACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0086 a0001c0002t0086	a0001c0002t0086g0055 a0001c0002t0086g0055	1	246	0.0041	18	c.20 others(29): Show c.2008_*2009insTATATATATATATACACA	CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding	7/7	2009	INFO_REALIGN_3_PRIME	chr2	TogoVar
CSRP2_chr12_76853709_76884019	76869529	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02886.hp1 HG03516.hp2 others(3): Show HG02486.hp1 HG02886.hp1 HG03516.hp2 HG03831.hp1 NA18940.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0087 a0001c0001t0001g0149 others(3): Show a0001c0001t0001g0036 a0001c0001t0001g0087 a0001c0001t0001g0149 a0001c0001t0001g0162 a0001c0001t0001g0191 a0001c0001t0001g0329	6	388	0.0155	18	c.-1- others(33): Show c.-1-3286_-1-3269dupGTGTGTGTGTGTGTGTGT	CSRP2	ENSG00000175183.10	transcript	ENST00000311083.10	protein_coding	1/5			chr12	TogoVar
CSRP3_chr11_19177030_19206983	19197563	C C	CTTTCTTT others(11): Show CTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	416	0.0024	18	c.-29 others(35): Show c.-29+4390_-29+4391insAAGAAAGAAAGAAAGAAA	CSRP3	ENSG00000129170.10	transcript	ENST00000265968.9	protein_coding	1/5			chr11	TogoVar
CST4_chr20_23680640_23694038	23685075	T T	TACACACA others(11): Show TACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	18	c.81 others(27): Show c.818_*819insGTGTGTGTGTGTGTGTGT	CST4	ENSG00000101441.5	transcript	ENST00000217423.4	protein_coding		564		chr20	TogoVar
CSTF1_chr20_56387645_56411362	56404812	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00673.hp1 others(25): Show HG00408.hp2 HG00423.hp1 HG00673.hp1 HG01167.hp2 HG01243.hp2 HG01952.hp2 HG02027.hp1 HG02027.hp2 HG02257.hp1 HG02451.hp2 NA18953.hp1 NA18956.hp2 NA18964.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18977.hp1 NA18982.hp2 NA18995.hp2 NA18999.hp2 NA19005.hp1 NA19009.hp2 NA19060.hp1 NA19064.hp1 NA19068.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0017 a0001c0001t0064 a0001c0001t0003 a0001c0001t0017 a0001c0001t0064	a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0003 others(7): Show a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0007 a0001c0001t0003g0027 a0001c0001t0003g0041 a0001c0001t0003g0073 a0001c0001t0003g0081 a0001c0001t0017g0019 a0001c0001t0064g0001	28	422	0.0664	18	c.10 others(29): Show c.1094_*1111dupTTTTTTTTTTTTTTTTTT	CSTF1	ENSG00000101138.12	transcript	ENST00000217109.9	protein_coding	6/6	1112	INFO_REALIGN_3_PRIME	chr20	TogoVar
CSTF3_chr11_33079584_33166480	33166264	A A	ATGTAAGT others(11): Show ATGTAAGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG00735.hp2 others(22): Show HG00423.hp2 HG00544.hp2 HG00735.hp2 HG01099.hp1 HG01943.hp1 HG02015.hp1 HG02040.hp2 HG02129.hp1 HG03471.hp2 HG03710.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp2 NA18953.hp1 NA18969.hp1 NA18971.hp1 NA18986.hp1 NA18989.hp1 NA18991.hp2 NA18999.hp2 NA19011.hp1 NA19055.hp1 NA19055.hp2 NA19083.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0005 a0001c0001t0002g0012 a0001c0001t0002g0027 others(22): Show a0001c0001t0002g0005 a0001c0001t0002g0012 a0001c0001t0002g0027 a0001c0001t0002g0030 a0001c0001t0002g0047 a0001c0001t0002g0051 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0075 a0001c0001t0002g0089 a0001c0001t0002g0097 a0001c0001t0003g0016 a0001c0001t0003g0113 a0001c0001t0003g0120 a0001c0001t0003g0141 a0001c0001t0003g0145 a0001c0001t0003g0166 a0001c0001t0003g0168 a0001c0001t0003g0171 a0001c0001t0003g0178 a0001c0001t0003g0183	25	360	0.0694	18	c.-49 others(29): Show c.-4940_-4939insCACACACACACACTTACA	CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding		4785		chr11	TogoVar
CSTPP1_chr11_46931761_47167247	46973780	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03471.hp2 HG02965.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0221 a0001c0005t0001g0085 a0001c0001t0001g0221 a0001c0005t0001g0085	2	224	0.0089	18	c.47- others(35): Show c.47-13426_47-13409dupGTGTGTGTGTGTGTGTGT	CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
CSTPP1_chr11_46931761_47167247	47036034	G G	GATATATA others(11): Show GATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03579.hp2 NA18964.hp1 others(1): Show HG01243.hp2 HG03579.hp2 NA18964.hp1 NA19083.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0073 a0001c0001t0001g0090 a0001c0001t0001g0168 others(1): Show a0001c0001t0001g0073 a0001c0001t0001g0090 a0001c0001t0001g0168 a0002c0002t0001g0086	4	224	0.0179	18	c.150 others(37): Show c.150-16349_150-16332dupATATATATATATATATAT	CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
CSTPP1_chr11_46931761_47167247	47065977	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp1 HG02809.hp1 others(8): Show HG01243.hp1 HG01884.hp1 HG02809.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03540.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0176 others(8): Show a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188	11	224	0.0491	18	c.280 others(37): Show c.280+13467_280+13484dupGTGTGTGTGTGTGTGTGT	CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
CSTPP1_chr11_46931761_47167247	47122091	A A	AAAAAATA others(11): Show AAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	224	0.0045	18	c.281 others(37): Show c.281-15553_281-15552insAAAATATATATATATATA	CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
CS_chr12_56266699_56305330	56303534	C C	CATTTTTT others(11): Show CATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00733.hp2 HG00738.hp2 others(29): Show HG00609.hp1 HG00733.hp2 HG00738.hp2 HG01255.hp2 HG01258.hp1 HG01358.hp1 HG01928.hp1 HG01978.hp1 HG02004.hp1 HG02273.hp1 HG02280.hp2 HG02293.hp2 HG03516.hp1 HG03654.hp1 NA18747.hp2 NA18939.hp2 NA18968.hp1 NA18969.hp1 NA18982.hp1 NA18990.hp1 NA18990.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp2 NA19064.hp1 NA19065.hp2 NA19068.hp2 NA19072.hp2 NA19079.hp1 NA19080.hp2 NA19087.hp1 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0004 a0003c0005 a0001c0001 a0002c0004 a0003c0005	a0001c0001t0001 a0002c0004t0001 a0003c0005t0001 a0001c0001t0001 a0002c0004t0001 a0003c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(22): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0035 a0001c0001t0001g0157 a0001c0001t0001g0172 a0001c0001t0001g0184 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0220 a0001c0001t0001g0237 a0001c0001t0001g0253 a0001c0001t0001g0265 a0001c0001t0001g0268 a0002c0004t0001g0204 a0003c0005t0001g0198	32	316	0.1013	18	c.-33 others(29): Show c.-3334_-3333insAAAAAAAAAAAAAAAAAT	CS	ENSG00000062485.19	transcript	ENST00000351328.8	protein_coding		3205		chr12	TogoVar
CS_chr12_56266699_56305330	56303535	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01891.hp1 HG02145.hp1 others(6): Show HG01109.hp2 HG01891.hp1 HG02145.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03579.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0132 others(6): Show a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0167 a0001c0001t0001g0250 a0001c0001t0007g0168	9	316	0.0285	18	c.-33 others(29): Show c.-3335_-3334insAAAAAAAAAAAAAAAAAA	CS	ENSG00000062485.19	transcript	ENST00000351328.8	protein_coding		3206		chr12	TogoVar
CT45A1_chrX_135708639_135728228	135712996	C C	CCTTCCTT others(11): Show CCTTCCTTCCTTCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03130.hp1 HG03098.hp1 HG03130.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0005 a0002c0002 a0003c0005	a0002c0002t0002 a0003c0005t0002 a0002c0002t0002 a0003c0005t0002	a0002c0002t0002g0017 a0003c0005t0002g0018 a0002c0002t0002g0017 a0003c0005t0002g0018	2	57	0.0351	18	c.-70 others(27): Show c.-701_-700insCTTCCTTCCTTCCTCTCT	CT45A1	ENSG00000268940.6	transcript	ENST00000594565.6	protein_coding		642		chrX	TogoVar
CT45A1_chrX_135708639_135728228	135712996	C C	CCTTCCTT others(11): Show CCTTCCTTCCTTCCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	57	0.0175	18	c.-70 others(27): Show c.-701_-700insCTTCCTTCCTTCCTTCCT	CT45A1	ENSG00000268940.6	transcript	ENST00000594565.6	protein_coding		642		chrX	TogoVar
CT45A5_chrX_135770852_135790503	135786682	A A	AGAGAAAG others(11): Show AGAGAAAGAAAAAAAGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 NA18981.hp1 HG02572.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0003 a0001c0001t0004g0109 a0001c0001t0003g0003 a0001c0001t0004g0109	2	177	0.0113	18	c.-14 others(29): Show c.-1453_-1452insCTTCTTTTTTTCTTTCTC	CT45A5	ENSG00000228836.9	transcript	ENST00000698999.1	protein_coding		1180		chrX	TogoVar
CT47A1_chrX_120977476_120990760	120980094	G G	GGCCTCCT others(11): Show GGCCTCCTGGACCGACGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0001 a0003c0010t0001	a0003c0010t0001g0026 a0003c0010t0001g0026	1	302	0.0033	18	c.25 others(29): Show c.2543_*2544insTGCGTCGGTCCAGGAGGC	CT47A1	ENSG00000236371.6	transcript	ENST00000433030.4	protein_coding		2381		chrX	TogoVar
CT47A2_chrX_120972606_120985928	120975234	G G	GGCCTCCT others(11): Show GGCCTCCTGGACCGACGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02273.hp2 HG03669.hp2 others(1): Show HG02155.hp2 HG02273.hp2 HG03669.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0002g0001 a0001c0001t0001g0002 a0001c0001t0002g0001	4	253	0.0158	18	c.25 others(29): Show c.2543_*2544insTGCGTCGGTCCAGGAGGC	CT47A2	ENSG00000242362.2	transcript	ENST00000458218.3	protein_coding		2371		chrX	TogoVar
CT47A3_chrX_120967746_120981068	120970374	G G	GGCCTCCT others(11): Show GGCCTCCTGGACCGACGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01243.hp1 HG01496.hp2 others(14): Show HG01081.hp2 HG01243.hp1 HG01496.hp2 HG01978.hp2 HG02040.hp1 HG02083.hp1 HG02145.hp1 HG02698.hp1 HG02922.hp2 HG03540.hp2 HG04184.hp2 NA18952.hp1 NA18969.hp2 NA18984.hp1 NA19009.hp1 NA19056.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0001t0002 a0001c0013t0001 a0001c0001t0001 a0001c0001t0002 a0001c0013t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0002g0001 a0001c0001t0002g0016 a0001c0013t0001g0022	17	201	0.0846	18	c.25 others(29): Show c.2543_*2544insTGCGTCGGTCCAGGAGGC	CT47A3	ENSG00000236126.3	transcript	ENST00000441330.3	protein_coding		2371		chrX	TogoVar

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