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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CCDC141_chr2_178824757_179055137	178870231	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02572.hp1 HG02630.hp2 HG01361.hp1 HG02572.hp1 HG02630.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0016 a0002c0003t0016 a0001c0001t0016 a0002c0003t0016	a0001c0001t0016g0142 a0002c0003t0016g0227 a0002c0003t0016g0230 a0001c0001t0016g0142 a0002c0003t0016g0227 a0002c0003t0016g0230	3	274	0.0110	19	c.220 others(36): Show c.2206-945_2206-927dupTTTTTTTTTTTTTTTTTTT		CCDC141	ENSG00000163492.16	transcript	ENST00000443758.7	protein_coding	14/23						chr2	TogoVar
CCDC141_chr2_178824757_179055137	179027646	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0017 a0005c0008t0017	a0005c0008t0017g0114 a0005c0008t0017g0114	1	274	0.0037	19	c.225 others(38): Show c.225+19619_225+19637dupTTTTTTTTTTTTTTTTTTT		CCDC141	ENSG00000163492.16	transcript	ENST00000443758.7	protein_coding	2/23						chr2	TogoVar
CCDC144A_chr17_16685241_16782881	16711136	G G	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01081.hp1 HG01123.hp1 others(11): Show HG01070.hp1 HG01081.hp1 HG01123.hp1 HG01884.hp1 HG02071.hp1 HG02976.hp2 HG03471.hp1 HG03579.hp1 NA18948.hp1 NA18978.hp2 NA18994.hp1 NA19054.hp1 NA19062.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0119 others(11): Show a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0133 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0157 a0001c0001t0001g0164 a0001c0001t0001g0170 a0001c0001t0008g0014	14	318	0.0440	19	c.157 others(36): Show c.1579-539_1579-521dupAAAAAAAAAAAAAAAAAAA		CCDC144A	ENSG00000170160.19	transcript	ENST00000399273.5	protein_coding	5/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC144A_chr17_16685241_16782881	16711154	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	318	0.0031	19	c.157 others(36): Show c.1579-521_1579-520insAAAAAAAAAAAAAACAAAA		CCDC144A	ENSG00000170160.19	transcript	ENST00000399273.5	protein_coding	5/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC144A_chr17_16685241_16782881	16718832	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0016 a0016	a0016c0026 a0016c0026	a0016c0026t0011 a0016c0026t0011	a0016c0026t0011g0317 a0016c0026t0011g0317	1	318	0.0031	19	c.171 others(38): Show c.1716-1349_1716-1348insTTTTTTTTTTTTTTTTTTT		CCDC144A	ENSG00000170160.19	transcript	ENST00000399273.5	protein_coding	6/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC148_chr2_158166073_158461753	158406635	T T	TGTTTTTG others(12): Show TGTTTTTGTTTTTGTTTTTG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	264	0.0038	19	c.26- others(36): Show c.26-48066_26-48065insCAAAAACAAAAACAAAAAC		CCDC148	ENSG00000153237.19	transcript	ENST00000283233.10	protein_coding	1/13						chr2	TogoVar
CCDC149_chr4_24798514_24918042	24874244	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp2 HG01891.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0056 a0001c0001t0004g0063 a0001c0001t0004g0056 a0001c0001t0004g0063	2	354	0.0057	19	c.211 others(34): Show c.211-526_211-525insAAAAAAAAAAAAAAAAAAA		CCDC149	ENSG00000181982.20	transcript	ENST00000635206.3	protein_coding	2/12						chr4	TogoVar
CCDC149_chr4_24798514_24918042	24893613	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0342 a0001c0001t0006g0342	1	354	0.0028	19	c.49- others(36): Show c.49-16935_49-16917dupAAAAAAAAAAAAAAAAAAA		CCDC149	ENSG00000181982.20	transcript	ENST00000635206.3	protein_coding	1/12						chr4	TogoVar
CCDC14_chr3_123908422_123966229	123934270	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG06807.hp2 HG02486.hp2 HG06807.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0017 a0001c0001 a0011c0017	a0001c0001t0001 a0011c0017t0001 a0001c0001t0001 a0011c0017t0001	a0001c0001t0001g0275 a0011c0017t0001g0288 a0001c0001t0001g0275 a0011c0017t0001g0288	2	368	0.0054	19	c.134 others(36): Show c.1344-534_1344-516dupTTTTTTTTTTTTTTTTTTT		CCDC14	ENSG00000175455.16	transcript	ENST00000409697.8	protein_coding	9/12						chr3	TogoVar
CCDC170_chr6_151489017_151626193	151572649	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02280.hp2 HG03098.hp2 HG02080.hp2 HG02280.hp2 HG03098.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0005 a0002c0003 a0006c0011 a0001c0005 a0002c0003 a0006c0011	a0001c0005t0030 a0002c0003t0004 a0006c0011t0011 a0001c0005t0030 a0002c0003t0004 a0006c0011t0011	a0001c0005t0030g0191 a0002c0003t0004g0252 a0006c0011t0011g0117 a0001c0005t0030g0191 a0002c0003t0004g0252 a0006c0011t0011g0117	3	320	0.0094	19	c.775 others(34): Show c.775-523_775-505dupTTTTTTTTTTTTTTTTTTT		CCDC170	ENSG00000120262.10	transcript	ENST00000239374.8	protein_coding	5/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
CCDC171_chr9_15548043_15979037	15608944	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0064 a0002c0002t0002g0064	1	266	0.0038	19	c.676 others(38): Show c.676-14313_676-14295dupAAAAAAAAAAAAAAAAAAA		CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	6/25					INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC171_chr9_15548043_15979037	15610444	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01081.hp1 HG01361.hp1 others(2): Show HG00597.hp1 HG01081.hp1 HG01361.hp1 NA18950.hp2 NA18972.hp1	a0002 a0002	a0002c0002 a0002c0013 a0002c0002 a0002c0013	a0002c0002t0002 a0002c0013t0002 a0002c0002t0002 a0002c0013t0002	a0002c0002t0002g0126 a0002c0002t0002g0131 a0002c0002t0002g0141 others(2): Show a0002c0002t0002g0126 a0002c0002t0002g0131 a0002c0002t0002g0141 a0002c0002t0002g0142 a0002c0013t0002g0068	5	266	0.0188	19	c.676 others(38): Show c.676-12804_676-12786dupAAAAAAAAAAAAAAAAAAA		CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	6/25					INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC171_chr9_15548043_15979037	15610469	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0124 a0002c0002t0002g0124	1	266	0.0038	19	c.676 others(38): Show c.676-12786_676-12785insAAAAAACAAAAAAAAAAAA		CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	6/25					INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC171_chr9_15548043_15979037	15677925	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0016 a0016	a0016c0026 a0016c0026	a0016c0026t0024 a0016c0026t0024	a0016c0026t0024g0075 a0016c0026t0024g0075	1	266	0.0038	19	c.107 others(36): Show c.1077-832_1077-831insTATATATATATATATATAA		CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	9/25					INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC171_chr9_15548043_15979037	15778313	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0018 a0003c0003t0018	a0003c0003t0018g0260 a0003c0003t0018g0260	1	266	0.0038	19	c.289 others(36): Show c.2898+507_2898+525dupAAAAAAAAAAAAAAAAAAA		CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	19/25					INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC171_chr9_15548043_15979037	15793551	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0264 a0003c0003t0007g0264	1	266	0.0038	19	c.326 others(38): Show c.3267+8868_3267+8886dupTTTTTTTTTTTTTTTTTTT		CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	21/25					INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC178_chr18_32932406_33445721	33388519	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0053 a0002c0002t0001g0053	1	58	0.0172	19	c.208 others(36): Show c.208+1020_208+1021insAAAAAAAAAAAAAAAAAAA		CCDC178	ENSG00000166960.17	transcript	ENST00000383096.8	protein_coding	5/22						chr18	TogoVar
CCDC179_chr11_22841922_22865474	22850966	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA19082.hp1 NA18953.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	2	446	0.0045	19	c.196 others(36): Show c.196-3446_196-3445insAAAAAAAAAAAAAAAAAAA		CCDC179	ENSG00000255359.3	transcript	ENST00000532798.3	protein_coding	3/3						chr11	TogoVar
CCDC179_chr11_22841922_22865474	22850968	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA19079.hp1 HG02080.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0116 a0001c0001t0001g0120	2	446	0.0045	19	c.196 others(36): Show c.196-3448_196-3447insAAAAAAAAAAAAAAAAAAA		CCDC179	ENSG00000255359.3	transcript	ENST00000532798.3	protein_coding	3/3						chr11	TogoVar
CCDC179_chr11_22841922_22865474	22850970	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	446	0.0022	19	c.196 others(36): Show c.196-3450_196-3449insAAAAAAAAAAAAAAAAAAA		CCDC179	ENSG00000255359.3	transcript	ENST00000532798.3	protein_coding	3/3						chr11	TogoVar
CCDC179_chr11_22841922_22865474	22850972	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18985.hp1 NA19060.hp2 others(1): Show NA18972.hp2 NA18985.hp1 NA19060.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0126 a0001c0001t0001g0020 a0001c0001t0001g0126	4	446	0.0090	19	c.196 others(36): Show c.196-3452_196-3451insAAAAAAAAAAAAAAAAAAA		CCDC179	ENSG00000255359.3	transcript	ENST00000532798.3	protein_coding	3/3						chr11	TogoVar
CCDC179_chr11_22841922_22865474	22850974	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02148.hp1 NA18975.hp2 HG01928.hp1 HG02148.hp1 NA18975.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0128 a0002c0002t0002g0071 a0001c0001t0001g0128 a0002c0002t0002g0071	3	446	0.0067	19	c.196 others(36): Show c.196-3454_196-3453insAAAAAAAAAAAAAAAAAAA		CCDC179	ENSG00000255359.3	transcript	ENST00000532798.3	protein_coding	3/3						chr11	TogoVar
CCDC179_chr11_22841922_22865474	22850976	A A	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0262 a0002c0002t0002g0262	1	446	0.0022	19	c.196 others(36): Show c.196-3456_196-3455insAAAAAAAAAAATATATATA		CCDC179	ENSG00000255359.3	transcript	ENST00000532798.3	protein_coding	3/3						chr11	TogoVar
CCDC179_chr11_22841922_22865474	22850976	A A	ATATATAT others(12): Show ATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0232 a0002c0002t0002g0232	1	446	0.0022	19	c.196 others(36): Show c.196-3456_196-3455insAAAAAAAAAAAAATATATA		CCDC179	ENSG00000255359.3	transcript	ENST00000532798.3	protein_coding	3/3						chr11	TogoVar
CCDC179_chr11_22841922_22865474	22850976	A A	ATATATTT others(12): Show ATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18987.hp2 HG03579.hp2 NA18987.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0229 a0002c0002t0002g0241 a0002c0002t0002g0229 a0002c0002t0002g0241	2	446	0.0045	19	c.196 others(36): Show c.196-3456_196-3455insAAAAAAAAAAAAAAATATA		CCDC179	ENSG00000255359.3	transcript	ENST00000532798.3	protein_coding	3/3						chr11	TogoVar
CCDC179_chr11_22841922_22865474	22850976	A A	ATATTTTT others(12): Show ATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA19066.hp2 NA18955.hp2 NA19066.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0067 a0002c0002t0002g0067	2	446	0.0045	19	c.196 others(36): Show c.196-3456_196-3455insAAAAAAAAAAAAAAAAATA		CCDC179	ENSG00000255359.3	transcript	ENST00000532798.3	protein_coding	3/3						chr11	TogoVar
CCDC179_chr11_22841922_22865474	22850976	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03490.hp1 NA18976.hp1 HG02735.hp2 HG03490.hp1 NA18976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0060 a0002c0002t0002g0210 a0002c0002t0002g0060 a0002c0002t0002g0210	3	446	0.0067	19	c.196 others(36): Show c.196-3474_196-3456dupAAAAAAAAAAAAAAAAAAA		CCDC179	ENSG00000255359.3	transcript	ENST00000532798.3	protein_coding	3/3						chr11	TogoVar
CCDC187_chr9_136244973_136309094	136277504	G G	GGGGTGGG others(12): Show GGGGTGGGTGGGTGCTCATA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19091.hp1 NA19009.hp1 NA19091.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0005c0005 a0001c0002 a0005c0005	a0001c0002t0001 a0005c0005t0001 a0001c0002t0001 a0005c0005t0001	a0001c0002t0001g0235 a0005c0005t0001g0359 a0001c0002t0001g0235 a0005c0005t0001g0359	2	400	0.0050	19	c.304 others(36): Show c.3041-796_3041-778dupTATGAGCACCCACCCACCC		CCDC187	ENSG00000260220.7	transcript	ENST00000638797.2	protein_coding	10/25						chr9	TogoVar
CCDC192_chr5_127698391_127946507	127884342	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	234	0.0043	19	c.535 others(36): Show c.535+8690_535+8708dupAAAAAAAAAAAAAAAAAAA		CCDC192	ENSG00000230561.7	transcript	ENST00000514853.5	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr5	TogoVar
CCDC194_chr19_17382196_17399196	17382276	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00639.hp1 HG01167.hp1 others(8): Show HG00323.hp1 HG00639.hp1 HG01167.hp1 HG01168.hp2 HG01515.hp1 HG01978.hp2 HG01993.hp1 HG02922.hp1 HG03041.hp2 NA19091.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0001 a0001c0001t0001g0016 a0002c0002t0002g0004 a0001c0001t0001g0001 a0001c0001t0001g0016 a0002c0002t0002g0004	11	414	0.0266	19	c.82 others(30): Show c.8232_*8233insCTTTCTTTCTTTCTTTCTT		CCDC194	ENSG00000269720.3	transcript	ENST00000636079.2	protein_coding					4919		chr19	TogoVar
CCDC195_chr2_224698764_224721365	224706189	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0145 a0001c0001t0000g0145	1	412	0.0024	19	c.483 others(36): Show c.483-2321_483-2303dupAAAAAAAAAAAAAAAAAAA		CCDC195	ENSG00000283428.1	transcript	ENST00000638102.1	protein_coding	2/2						chr2	TogoVar
CCDC196_chr14_66481371_66503553	66484176	A A	AAATATAT others(12): Show AAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	364	0.0028	19	c.-23 others(30): Show c.-2327_-2326insAATATATATATATATATAT		CCDC196	ENSG00000196553.15	transcript	ENST00000636229.1	protein_coding					2194		chr14	TogoVar
CCDC200_chr17_43216420_43233623	43225677	A A	AAGTATAT others(12): Show AAGTATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0186 a0001c0001t0002g0186	1	334	0.0030	19	c.106 others(36): Show c.106-1129_106-1128insATATATATATATATATACT		CCDC200	ENSG00000236383.9	transcript	ENST00000636331.2	protein_coding	1/3						chr17	TogoVar
CCDC200_chr17_43216420_43233623	43230678	G G	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01433.hp1 HG01261.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0210 a0001c0001t0002g0214 a0001c0001t0002g0210 a0001c0001t0002g0214	2	334	0.0060	19	c.-21 others(30): Show c.-2143_-2125dupTTTTTTTTTTTTTTTTTTT		CCDC200	ENSG00000236383.9	transcript	ENST00000636331.2	protein_coding					2056		chr17	TogoVar
CCDC25_chr8_27728316_27777640	27759779	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	368	0.0027	19	c.116 others(36): Show c.116+2621_116+2639dupTTTTTTTTTTTTTTTTTTT		CCDC25	ENSG00000147419.19	transcript	ENST00000356537.9	protein_coding	3/8						chr8	TogoVar
CCDC30_chr1_42458286_42662190	42575649	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01175.hp2 HG01891.hp1 others(17): Show HG00423.hp2 HG01175.hp2 HG01891.hp1 HG02027.hp1 HG02080.hp1 HG02486.hp1 HG02698.hp2 HG02976.hp1 HG03831.hp1 HG04199.hp2 NA18971.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19075.hp1 NA19075.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0010 a0001c0002 a0001c0004 a0001c0010	a0001c0002t0002 a0001c0004t0002 a0001c0004t0003 others(4): Show a0001c0002t0002 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0009 a0001c0004t0015 a0001c0010t0004	a0001c0002t0002g0211 a0001c0002t0002g0213 a0001c0002t0002g0225 others(17): Show a0001c0002t0002g0211 a0001c0002t0002g0213 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0233 a0001c0002t0002g0239 a0001c0002t0002g0244 a0001c0002t0002g0251 a0001c0002t0002g0264 a0001c0002t0002g0281 a0001c0002t0002g0287 a0001c0004t0002g0298 a0001c0004t0003g0237 a0001c0004t0003g0255 a0001c0004t0004g0236 a0001c0004t0004g0271 a0001c0004t0004g0276 a0001c0004t0009g0214 a0001c0004t0015g0206 a0001c0010t0004g0275	20	324	0.0617	19	c.132 others(38): Show c.1321-1362_1321-1361insAAAAAAAAAAAAAAAAAAA		CCDC30	ENSG00000186409.19	transcript	ENST00000657597.2	protein_coding	11/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
CCDC40_chr17_80031642_80105613	80044700	A A	AAATGTGT others(12): Show AAATGTGTATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 NA19240.hp1 HG01255.hp1 NA19240.hp1	a0001 a0012 a0001 a0012	a0001c0021 a0012c0028 a0001c0021 a0012c0028	a0001c0021t0006 a0012c0028t0001 a0001c0021t0006 a0012c0028t0001	a0001c0021t0006g0292 a0012c0028t0001g0313 a0001c0021t0006g0292 a0012c0028t0001g0313	2	378	0.0053	19	c.553 others(36): Show c.553-2578_553-2577insATGTGTATATATATATATA		CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC40_chr17_80031642_80105613	80056016	A A	ATATATAT others(12): Show ATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0003 a0001c0013t0003	a0001c0013t0003g0136 a0001c0013t0003g0136	1	378	0.0027	19	c.116 others(38): Show c.1160-2477_1160-2476insATATATATATTTTTTTTTT		CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	7/19					INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC40_chr17_80031642_80105613	80056016	A A	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01167.hp1 HG01106.hp2 HG01167.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0018 a0001c0002 a0002c0018	a0001c0002t0003 a0002c0018t0002 a0001c0002t0003 a0002c0018t0002	a0001c0002t0003g0239 a0002c0018t0002g0262 a0001c0002t0003g0239 a0002c0018t0002g0262	2	378	0.0053	19	c.116 others(38): Show c.1160-2477_1160-2476insATATATATTTTTTTTTTTT		CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	7/19					INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC40_chr17_80031642_80105613	80056016	A A	ATATATAT others(12): Show ATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01261.hp2 HG02135.hp2 others(4): Show HG00408.hp1 HG01261.hp2 HG02135.hp2 NA18962.hp2 NA18982.hp2 NA19009.hp1 NA19011.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0218 a0001c0002t0003g0220 a0001c0002t0003g0246 others(4): Show a0001c0002t0003g0218 a0001c0002t0003g0220 a0001c0002t0003g0246 a0001c0002t0003g0247 a0001c0002t0003g0248 a0001c0002t0003g0264 a0001c0002t0003g0274	7	378	0.0185	19	c.116 others(38): Show c.1160-2477_1160-2476insATATATTTTTTTTTTTTTT		CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	7/19					INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC40_chr17_80031642_80105613	80056016	A A	ATATATTT others(12): Show ATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02155.hp2 HG02523.hp1 HG00673.hp1 HG02155.hp2 HG02523.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0258 a0001c0002t0003g0272 a0001c0002t0003g0273 a0001c0002t0003g0258 a0001c0002t0003g0272 a0001c0002t0003g0273	3	378	0.0079	19	c.116 others(38): Show c.1160-2477_1160-2476insATATTTTTTTTTTTTTTTT		CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	7/19					INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC40_chr17_80031642_80105613	80056016	A A	ATATTTTT others(12): Show ATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18950.hp2 HG02165.hp1 NA18950.hp2	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0003 a0001c0011t0001 a0001c0002t0003 a0001c0011t0001	a0001c0002t0003g0229 a0001c0011t0001g0236 a0001c0002t0003g0229 a0001c0011t0001g0236	2	378	0.0053	19	c.116 others(38): Show c.1160-2477_1160-2476insATTTTTTTTTTTTTTTTTT		CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	7/19					INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC40_chr17_80031642_80105613	80099735	A A	AGATGATC others(12): Show AGATGATCGCCAACAAGCTC	frameshift_variant frameshift_variant	HIGH	HG02896.hp2 HG02896.hp2	a0000 a0000	a0000c0072 a0000c0072	a0000c0072t0002 a0000c0072t0002	a0000c0072t0002g0308 a0000c0072t0002g0308	1	378	0.0027	19	c.339 others(28): Show c.3392_3410dupTGATCGCCAACAAGCTCGA	p.Glu others(6): Show p.Glu1137fs	CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	20/20	3432/4288	3411/3429	1137/1142		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC42_chr17_8724935_8749836	8738066	T T	TCCTCCCA others(12): Show TCCTCCCACCTCAGCCTCCC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0097	1	410	0.0024	19	c.493 others(36): Show c.493-2474_493-2456dupGGGAGGCTGAGGTGGGAGG		CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding	4/6						chr17	TogoVar
CCDC47_chr17_63740255_63778597	63751365	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	352	0.0028	19	c.137 others(36): Show c.1371+556_1371+574dupTTTTTTTTTTTTTTTTTTT		CCDC47	ENSG00000108588.15	transcript	ENST00000225726.10	protein_coding	12/12						chr17	TogoVar
CCDC47_chr17_63740255_63778597	63771045	G G	GAAGGAAG others(12): Show GAAGGAAGAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	352	0.0028	19	c.-20 others(36): Show c.-20+2366_-20+2367insTCTTTCTTTCTTCTTCCTT		CCDC47	ENSG00000108588.15	transcript	ENST00000225726.10	protein_coding	1/12						chr17	TogoVar
CCDC57_chr17_82096470_82217842	82184031	G G	GCGCGCGG others(12): Show GCGCGCGGCGCGCGCACACA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0204 a0002c0002t0001g0204	1	252	0.0040	19	c.105 others(35): Show c.1053-100_1053-99insTGTGTGCGCGCGCCGCGCG		CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding	7/18						chr17	TogoVar
CCDC60_chr12_119329729_119546040	119397826	G G	GAGGGAGG others(12): Show GAGGGAGGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00408.hp2 others(43): Show HG00099.hp2 HG00140.hp2 HG00408.hp2 HG00639.hp1 HG00733.hp1 HG01070.hp2 HG01099.hp1 HG01168.hp1 HG01192.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01361.hp2 HG01884.hp2 HG01978.hp1 HG02027.hp1 HG02040.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02135.hp1 HG02300.hp2 HG02602.hp1 HG02615.hp2 HG02683.hp2 HG02922.hp1 HG03710.hp1 HG03831.hp2 NA18612.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18947.hp1 NA18967.hp1 NA18977.hp2 NA18979.hp1 NA18981.hp2 NA18984.hp2 NA18999.hp2 NA19043.hp2 NA19068.hp1 NA19074.hp1 NA19079.hp2 NA19091.hp2 NA20129.hp2 NA20752.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0004c0004t0003	a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0064 others(43): Show a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0176 a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0253 a0001c0001t0002g0088 a0001c0001t0002g0092 a0001c0001t0002g0103 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0003g0177 a0001c0001t0004g0098 a0001c0001t0004g0118 a0001c0001t0005g0205 a0002c0002t0001g0185 a0002c0002t0001g0193 a0002c0002t0001g0204 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0003g0191 a0002c0002t0003g0192 a0002c0002t0003g0198 a0002c0002t0003g0200 a0004c0004t0003g0251	46	256	0.1797	19	c.91- others(36): Show c.91-30857_91-30856insAGGGAGGGGGGAGGGGGGA		CCDC60	ENSG00000183273.7	transcript	ENST00000327554.3	protein_coding	1/13						chr12	TogoVar
CCDC60_chr12_119329729_119546040	119397826	G G	GAGGGAGG others(12): Show GAGGGAGGGGGGTGGGGGGA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	256	0.0039	19	c.91- others(36): Show c.91-30857_91-30856insAGGGAGGGGGGTGGGGGGA		CCDC60	ENSG00000183273.7	transcript	ENST00000327554.3	protein_coding	1/13						chr12	TogoVar
CCDC60_chr12_119329729_119546040	119445433	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0250 a0001c0001t0003g0250	1	256	0.0039	19	c.170 others(38): Show c.170+16676_170+16694dupAAAAAAAAAAAAAAAAAAA		CCDC60	ENSG00000183273.7	transcript	ENST00000327554.3	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr12	TogoVar

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