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
CEP170B_chr14_104860268_104901747	104889941	GATGGATG others(5): Show GATGGATGGATGA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02572.hp2 HG02615.hp2 others(2): Show HG02055.hp1 HG02572.hp2 HG02615.hp2 HG02647.hp2 HG03486.hp1	a0001 a0011 a0001 a0011	a0001c0005 a0001c0008 a0011c0027 a0001c0005 a0001c0008 a0011c0027	a0001c0005t0003 a0001c0008t0003 a0011c0027t0003 a0001c0005t0003 a0001c0008t0003 a0011c0027t0003	a0001c0005t0003g0032 a0001c0005t0003g0256 a0001c0008t0003g0265 others(1): Show a0001c0005t0003g0032 a0001c0005t0003g0256 a0001c0008t0003g0265 a0011c0027t0003g0259	5	328	0.0152	-12	c.387 others(29): Show c.3878+195_3878+206delAATGGATGGATG	CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
CEP170B_chr14_104860268_104901747	104890161	CATGGATG others(5): Show CATGGATGGATGG	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01069.hp2 HG01071.hp2 others(17): Show HG00733.hp2 HG01069.hp2 HG01071.hp2 HG01123.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG02257.hp2 HG02451.hp1 HG02647.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp2 HG02976.hp1 HG03041.hp1 HG03453.hp1 NA19240.hp2 NA20300.hp1 NA21309.hp2	a0001 a0003 a0018 others(1): Show a0001 a0003 a0018 a0026	a0001c0017 a0001c0019 a0001c0020 others(10): Show a0001c0017 a0001c0019 a0001c0020 a0001c0032 a0001c0069 a0001c0073 a0001c0075 a0001c0080 a0003c0026 a0003c0067 a0003c0078 a0018c0068 a0026c0072	a0001c0017t0002 a0001c0019t0002 a0001c0020t0002 others(10): Show a0001c0017t0002 a0001c0019t0002 a0001c0020t0002 a0001c0032t0024 a0001c0069t0002 a0001c0073t0002 a0001c0075t0002 a0001c0080t0018 a0003c0026t0002 a0003c0067t0002 a0003c0078t0002 a0018c0068t0019 a0026c0072t0002	a0001c0017t0002g0170 a0001c0017t0002g0173 a0001c0017t0002g0174 others(17): Show a0001c0017t0002g0170 a0001c0017t0002g0173 a0001c0017t0002g0174 a0001c0019t0002g0167 a0001c0019t0002g0168 a0001c0019t0002g0172 a0001c0020t0002g0026 a0001c0020t0002g0160 a0001c0020t0002g0164 a0001c0032t0024g0175 a0001c0069t0002g0026 a0001c0073t0002g0162 a0001c0075t0002g0163 a0001c0080t0018g0078 a0003c0026t0002g0025 a0003c0026t0002g0250 a0003c0067t0002g0025 a0003c0078t0002g0249 a0018c0068t0019g0080 a0026c0072t0002g0165	20	328	0.0610	-12	c.387 others(29): Show c.3878+420_3878+431delATGGATGGATGG	CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
CEP170_chr1_243119428_243260281	243119948	TATCCATC others(5): Show TATCCATCCATCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02809.hp1 HG01884.hp1 HG02809.hp1	a0001 a0008 a0001 a0008	a0001c0007 a0008c0020 a0001c0007 a0008c0020	a0001c0007t0001 a0008c0020t0001 a0001c0007t0001 a0008c0020t0001	a0001c0007t0001g0158 a0008c0020t0001g0125 a0001c0007t0001g0158 a0008c0020t0001g0125	2	303	0.0066	-12	c.64 others(23): Show c.6489_*6500delGGATGGATGGAT	CEP170	ENSG00000143702.16	transcript	ENST00000366542.6	protein_coding		4479		chr1	TogoVar
CEP170_chr1_243119428_243260281	243152521	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0121 a0002c0002t0003g0121	1	303	0.0033	-12	c.391 others(31): Show c.3911+3688_3911+3699delAAAAAAAAAAAA	CEP170	ENSG00000143702.16	transcript	ENST00000366542.6	protein_coding	14/19			chr1	TogoVar
CEP170_chr1_243119428_243260281	243210608	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	303	0.0033	-12	c.274 others(29): Show c.274+1266_274+1277delAAAAAAAAAAAA	CEP170	ENSG00000143702.16	transcript	ENST00000366542.6	protein_coding	4/19			chr1	TogoVar
CEP170_chr1_243119428_243260281	243231153	GCATCATC others(5): Show GCATCATCATCAT	G G	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	303	0.0033	-12	c.-41 others(29): Show c.-41-5844_-41-5833delATGATGATGATG	CEP170	ENSG00000143702.16	transcript	ENST00000366542.6	protein_coding	1/19			chr1	TogoVar
CEP19_chr3_196701277_196717250	196701952	TACTTGAA others(5): Show TACTTGAACAACA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0087 a0001c0001t0024g0087	1	432	0.0023	-12	c.55 others(23): Show c.5587_*5598delTGTTGTTCAAGT	CEP19	ENSG00000174007.9	transcript	ENST00000409690.5	protein_coding		4324		chr3	TogoVar
CEP19_chr3_196701277_196717250	196710842	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0087 a0001c0001t0024g0087	1	432	0.0023	-12	c.-71 others(29): Show c.-71+1075_-71+1086delTTTTTTTTTTTT	CEP19	ENSG00000174007.9	transcript	ENST00000409690.5	protein_coding	1/2			chr3	TogoVar
CEP20_chr16_15860719_15893603	15861477	AAATAATA others(5): Show AAATAATAATAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01346.hp2 HG04199.hp1 HG01256.hp2 HG01346.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0018 a0001c0001t0005g0063 a0001c0001t0005g0066 a0001c0001t0005g0018 a0001c0001t0005g0063 a0001c0001t0005g0066	3	433	0.0069	-12	c.59 others(23): Show c.5951_*5962delATTATTATTATT	CEP20	ENSG00000133393.13	transcript	ENST00000255759.11	protein_coding		4241		chr16	TogoVar
CEP20_chr16_15860719_15893603	15882541	AACAAACA others(5): Show AACAAACAAACAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	433	0.0023	-12	c.226 others(29): Show c.226+1455_226+1466delATGTTTGTTTGT	CEP20	ENSG00000133393.13	transcript	ENST00000255759.11	protein_coding	2/4			chr16	TogoVar
CEP20_chr16_15860719_15893603	15882731	ATATCTAT others(5): Show ATATCTATCTATC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG01256.hp2 others(6): Show HG00140.hp2 HG00280.hp2 HG01256.hp2 HG01346.hp2 HG02257.hp1 HG02559.hp1 HG02922.hp1 HG04199.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0018 a0001c0001t0005g0062 a0001c0001t0005g0063 others(4): Show a0001c0001t0005g0018 a0001c0001t0005g0062 a0001c0001t0005g0063 a0001c0001t0005g0064 a0001c0001t0005g0065 a0001c0001t0005g0066 a0001c0001t0005g0069	9	433	0.0208	-12	c.226 others(29): Show c.226+1265_226+1276delGATAGATAGATA	CEP20	ENSG00000133393.13	transcript	ENST00000255759.11	protein_coding	2/4			chr16	TogoVar
CEP20_chr16_15860719_15893603	15891661	CTTCCTTC others(5): Show CTTCCTTCCTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	433	0.0023	-12	c.-30 others(23): Show c.-3088_-3077delAGAAGGAAGGAA	CEP20	ENSG00000133393.13	transcript	ENST00000255759.11	protein_coding		3059		chr16	TogoVar
CEP250_chr20_35450598_35524280	35451571	GTTTTTTT others(5): Show GTTTTTTTTTCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02572.hp1 HG02622.hp1 others(3): Show HG01884.hp1 HG02572.hp1 HG02622.hp1 HG02723.hp2 HG03139.hp2 HG03486.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0010 a0004c0006t0043 a0004c0006t0010 a0004c0006t0043	a0004c0006t0010g0011 a0004c0006t0010g0012 a0004c0006t0010g0013 others(3): Show a0004c0006t0010g0011 a0004c0006t0010g0012 a0004c0006t0010g0013 a0004c0006t0010g0015 a0004c0006t0010g0016 a0004c0006t0043g0014	6	260	0.0231	-12	c.-44 others(23): Show c.-4477_-4466delTTTTTTTTTCCT	CEP250	ENSG00000126001.17	transcript	ENST00000397527.6	protein_coding		4026		chr20	TogoVar
CEP250_chr20_35450598_35524280	35482048	AATAGATA others(5): Show AATAGATAGATAG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02818.hp1 NA18998.hp2 HG02145.hp2 HG02818.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0044 a0001c0001t0050 a0001c0001t0001 a0001c0001t0044 a0001c0001t0050	a0001c0001t0001g0227 a0001c0001t0044g0100 a0001c0001t0050g0092 a0001c0001t0001g0227 a0001c0001t0044g0100 a0001c0001t0050g0092	3	260	0.0115	-12	c.258 others(31): Show c.2586+1950_2586+1961delAGATAGATAGAT	CEP250	ENSG00000126001.17	transcript	ENST00000397527.6	protein_coding	20/34		INFO_REALIGN_3_PRIME	chr20	TogoVar
CEP250_chr20_35450598_35524280	35485645	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02615.hp1 others(8): Show HG01891.hp1 HG02109.hp1 HG02615.hp1 HG02622.hp2 HG02698.hp2 HG02717.hp1 HG02886.hp2 HG03098.hp1 HG03209.hp1 HG03927.hp2 HG04199.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0021 others(2): Show a0001c0001 a0001c0003 a0001c0021 a0003c0004 a0003c0013	a0001c0001t0003 a0001c0003t0008 a0001c0003t0045 others(3): Show a0001c0001t0003 a0001c0003t0008 a0001c0003t0045 a0001c0021t0056 a0003c0004t0007 a0003c0013t0007	a0001c0001t0003g0095 a0001c0003t0008g0122 a0001c0003t0045g0125 others(8): Show a0001c0001t0003g0095 a0001c0003t0008g0122 a0001c0003t0045g0125 a0001c0021t0056g0231 a0003c0004t0007g0025 a0003c0004t0007g0026 a0003c0004t0007g0027 a0003c0004t0007g0029 a0003c0004t0007g0030 a0003c0004t0007g0031 a0003c0013t0007g0024	11	260	0.0423	-12	c.258 others(31): Show c.2587-4972_2587-4961delTTTTTTTTTTTT	CEP250	ENSG00000126001.17	transcript	ENST00000397527.6	protein_coding	20/34		INFO_REALIGN_3_PRIME	chr20	TogoVar
CEP350_chr1_179949810_180119875	179991667	ATGTGTGT others(5): Show ATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	248	0.0040	-12	c.236 others(27): Show c.236-365_236-354delGTGTGTGTGTGT	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	4/37		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP350_chr1_179949810_180119875	180004869	GGCTGGCT others(5): Show GGCTGGCTTGCTT	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03654.hp2 HG02647.hp2 HG03654.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0003 a0001c0001t0001 a0004c0004t0003	a0001c0001t0001g0205 a0004c0004t0003g0054 a0001c0001t0001g0205 a0004c0004t0003g0054	2	248	0.0081	-12	c.113 others(31): Show c.1133-1581_1133-1570delGGCTTGCTTGCT	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	7/37		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP350_chr1_179949810_180119875	180004873	GGCTTGCT others(5): Show GGCTTGCTTGCTT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02572.hp1 HG02723.hp2 others(5): Show HG00323.hp1 HG02572.hp1 HG02723.hp2 HG02922.hp2 HG02965.hp1 HG03195.hp2 NA19081.hp2 NA21309.hp2	a0002 a0006 a0007 a0002 a0006 a0007	a0002c0002 a0006c0006 a0007c0008 a0002c0002 a0006c0006 a0007c0008	a0002c0002t0004 a0002c0002t0015 a0006c0006t0002 others(1): Show a0002c0002t0004 a0002c0002t0015 a0006c0006t0002 a0007c0008t0011	a0002c0002t0004g0030 a0002c0002t0015g0019 a0006c0006t0002g0041 others(5): Show a0002c0002t0004g0030 a0002c0002t0015g0019 a0006c0006t0002g0041 a0006c0006t0002g0228 a0006c0006t0002g0229 a0006c0006t0002g0230 a0006c0006t0002g0231 a0007c0008t0011g0016	8	248	0.0323	-12	c.113 others(31): Show c.1133-1556_1133-1545delGCTTGCTTGCTT	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	7/37		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP350_chr1_179949810_180119875	180007839	CGTGTGTG others(5): Show CGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02809.hp1 HG03453.hp2 others(1): Show HG02723.hp1 HG02809.hp1 HG03453.hp2 HG03471.hp2	a0002 a0008 a0002 a0008	a0002c0020 a0008c0009 a0002c0020 a0008c0009	a0002c0020t0019 a0008c0009t0008 a0002c0020t0019 a0008c0009t0008	a0002c0020t0019g0010 a0008c0009t0008g0007 a0008c0009t0008g0008 others(1): Show a0002c0020t0019g0010 a0008c0009t0008g0007 a0008c0009t0008g0008 a0008c0009t0008g0009	4	248	0.0161	-12	c.124 others(31): Show c.1246+1301_1246+1312delGTGTGTGTGTGT	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	8/37		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP350_chr1_179949810_180119875	180061186	CATTGATT others(5): Show CATTGATTGATTG	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show HG02723.hp1 HG02809.hp1 HG03453.hp2 HG03471.hp2 NA19030.hp2 NA19043.hp1	a0002 a0008 a0010 others(1): Show a0002 a0008 a0010 a0022	a0002c0020 a0008c0009 a0010c0029 others(1): Show a0002c0020 a0008c0009 a0010c0029 a0022c0028	a0002c0020t0019 a0008c0009t0008 a0010c0029t0010 others(1): Show a0002c0020t0019 a0008c0009t0008 a0010c0029t0010 a0022c0028t0010	a0002c0020t0019g0010 a0008c0009t0008g0007 a0008c0009t0008g0008 others(3): Show a0002c0020t0019g0010 a0008c0009t0008g0007 a0008c0009t0008g0008 a0008c0009t0008g0009 a0010c0029t0010g0011 a0022c0028t0010g0012	6	248	0.0242	-12	c.526 others(31): Show c.5263-1016_5263-1005delTTGATTGATTGA	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	25/37		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP350_chr1_179949810_180119875	180090545	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0047 a0004c0004t0003g0047	1	248	0.0040	-12	c.642 others(29): Show c.6426-155_6426-144delAAAAAAAAAAAA	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	32/37		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP44_chr4_174278911_174325328	174297651	AGTGTGTG others(5): Show AGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02155.hp1 NA18979.hp2 others(4): Show HG00621.hp2 HG02155.hp1 NA18979.hp2 NA18987.hp1 NA19054.hp1 NA19084.hp2 NA19087.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0024 a0002c0002t0004g0071 a0002c0002t0004g0076 others(3): Show a0002c0002t0004g0024 a0002c0002t0004g0071 a0002c0002t0004g0076 a0002c0002t0004g0077 a0002c0002t0004g0083 a0002c0002t0004g0085	7	388	0.0180	-12	c.-14 others(29): Show c.-147-292_-147-281delGTGTGTGTGTGT	CEP44	ENSG00000164118.13	transcript	ENST00000503780.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
CEP57L1_chr6_109090507_109179418	109120912	GCACACAC others(5): Show GCACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03486.hp2 HG03471.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0138 a0001c0001t0011g0139 a0001c0001t0011g0138 a0001c0001t0011g0139	2	228	0.0088	-12	c.-3- others(29): Show c.-3-24272_-3-24261delCACACACACACA	CEP57L1	ENSG00000183137.16	transcript	ENST00000517392.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP57L1_chr6_109090507_109179418	109142946	GCTCTCTC others(5): Show GCTCTCTCTCTCT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02027.hp2 HG02451.hp2 others(8): Show HG01109.hp1 HG02027.hp2 HG02451.hp2 HG02486.hp1 HG02738.hp2 HG02886.hp2 HG02896.hp1 NA18951.hp1 NA19062.hp1 NA19240.hp2 NA20129.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0004c0004	a0001c0001t0006 a0001c0001t0010 a0001c0001t0015 others(6): Show a0001c0001t0006 a0001c0001t0010 a0001c0001t0015 a0001c0001t0048 a0001c0001t0054 a0001c0001t0067 a0001c0003t0005 a0002c0002t0074 a0004c0004t0008	a0001c0001t0006g0164 a0001c0001t0006g0166 a0001c0001t0010g0119 others(8): Show a0001c0001t0006g0164 a0001c0001t0006g0166 a0001c0001t0010g0119 a0001c0001t0015g0162 a0001c0001t0015g0175 a0001c0001t0048g0170 a0001c0001t0054g0169 a0001c0001t0067g0186 a0001c0003t0005g0201 a0002c0002t0074g0006 a0004c0004t0008g0132	11	228	0.0483	-12	c.-3- others(27): Show c.-3-2225_-3-2214delTCTCTCTCTCTC	CEP57L1	ENSG00000183137.16	transcript	ENST00000517392.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP57L1_chr6_109090507_109179418	109152636	CGTGTGTG others(5): Show CGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01168.hp2 HG01169.hp1 others(8): Show HG00558.hp1 HG01168.hp2 HG01169.hp1 HG02451.hp2 HG02630.hp1 HG02683.hp2 HG02886.hp1 HG02922.hp2 HG04184.hp2 NA18948.hp1 NA19030.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0007 a0002c0002 others(1): Show a0001c0001 a0001c0007 a0002c0002 a0006c0008	a0001c0001t0001 a0001c0001t0009 a0001c0001t0052 others(7): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0052 a0001c0001t0064 a0001c0007t0029 a0002c0002t0068 a0002c0002t0074 a0002c0002t0075 a0002c0002t0086 a0006c0008t0077	a0001c0001t0001g0097 a0001c0001t0001g0114 a0001c0001t0009g0148 others(8): Show a0001c0001t0001g0097 a0001c0001t0001g0114 a0001c0001t0009g0148 a0001c0001t0052g0189 a0001c0001t0064g0126 a0001c0007t0029g0005 a0002c0002t0068g0009 a0002c0002t0074g0006 a0002c0002t0075g0008 a0002c0002t0086g0007 a0006c0008t0077g0212	11	228	0.0483	-12	c.463 others(29): Show c.463-1164_463-1153delGTGTGTGTGTGT	CEP57L1	ENSG00000183137.16	transcript	ENST00000517392.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP57L1_chr6_109090507_109179418	109177637	AATATATA others(5): Show AATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 homoSapiens_chm13v2.hp1 HG03130.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0084 a0001c0001t0005 a0002c0002t0084	a0001c0001t0005g0192 a0002c0002t0084g0011 a0001c0001t0005g0192 a0002c0002t0084g0011	2	228	0.0088	-12	c.14 others(25): Show c.14668_*14679delATATATATATAT	CEP57L1	ENSG00000183137.16	transcript	ENST00000517392.6	protein_coding		3220		chr6	TogoVar
CEP57_chr11_95785498_95837693	95789054	AGAAAACC others(5): Show AGAAAACCGAGAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0120 a0001c0001t0004g0120	1	340	0.0029	-12	c.-16 others(23): Show c.-1644_-1633delGAAAACCGAGAT	CEP57	ENSG00000166037.11	transcript	ENST00000325542.10	protein_coding		1443		chr11	TogoVar
CEP63_chr3_134481057_134570031	134551744	TATATATA others(5): Show TATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp2 others(10): Show HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00733.hp2 HG00741.hp2 HG01255.hp1 HG02056.hp1 HG02300.hp1 HG02300.hp2 HG03239.hp1 HG03491.hp1 HG03831.hp1 HG04199.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0010 others(1): Show a0001c0001 a0001c0003 a0001c0010 a0002c0002	a0001c0001t0001 a0001c0003t0003 a0001c0010t0001 others(1): Show a0001c0001t0001 a0001c0003t0003 a0001c0010t0001 a0002c0002t0001	a0001c0001t0001g0216 a0001c0001t0001g0286 a0001c0001t0001g0287 others(10): Show a0001c0001t0001g0216 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0302 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0003t0003g0183 a0001c0010t0001g0290 a0002c0002t0001g0210 a0002c0002t0001g0228	13	322	0.0404	-12	c.138 others(29): Show c.1381-180_1381-169delTATATATATACA	CEP63	ENSG00000182923.20	transcript	ENST00000675561.1	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
CEP63_chr3_134481057_134570031	134568711	ATTAACCC others(5): Show ATTAACCCATTGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0005 a0001c0001t0006g0005	1	322	0.0031	-12	c.71 others(23): Show c.7177_*7188delTTAACCCATTGT	CEP63	ENSG00000182923.20	transcript	ENST00000675561.1	protein_coding		3681		chr3	TogoVar
CEP72_chr5_607340_658553	611270	CCCCCTAC others(5): Show CCCCCTACACACT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01069.hp2 HG01175.hp1 others(16): Show HG00735.hp1 HG01069.hp2 HG01175.hp1 HG01243.hp1 HG01433.hp1 HG01981.hp2 HG02602.hp1 HG02683.hp1 HG02683.hp2 HG02738.hp2 HG03491.hp2 HG03688.hp1 HG03834.hp2 HG04115.hp2 HG04228.hp2 NA18942.hp1 NA18982.hp1 NA20752.hp2 NA20905.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0007 a0002c0002 a0005c0007	a0002c0002t0001 a0005c0007t0001 a0002c0002t0001 a0005c0007t0001	a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 others(16): Show a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0005c0007t0001g0076	19	91	0.2088	-12	c.-10 others(23): Show c.-1091_-1080delCCCCTACACACT	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding		1069		chr5	TogoVar
CEP72_chr5_607340_658553	650297	GACTGTGA others(5): Show GACTGTGAGGTGT	G G	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0022 a0003c0003t0002g0022	1	91	0.0110	-12	c.177 others(31): Show c.1778+2382_1778+2393delACTGTGAGGTGT	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11			chr5	TogoVar
CEP83_chr12_94302698_94464867	94313527	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp1 HG02486.hp1 HG02257.hp2 HG02258.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0207 a0001c0001t0010g0214 a0001c0001t0010g0216 a0001c0001t0010g0207 a0001c0001t0010g0214 a0001c0001t0010g0216	3	364	0.0082	-12	c.170 others(29): Show c.1708-522_1708-511delTTTTTTTTTTTT	CEP83	ENSG00000173588.16	transcript	ENST00000397809.10	protein_coding	14/16			chr12	TogoVar
CEP83_chr12_94302698_94464867	94343470	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG01106.hp1 others(24): Show HG00323.hp2 HG00408.hp2 HG01106.hp1 HG01123.hp1 HG02004.hp2 HG02273.hp1 HG02602.hp2 HG02615.hp1 HG03098.hp1 HG03239.hp2 HG03492.hp1 HG03516.hp1 NA18943.hp2 NA18949.hp1 NA18964.hp2 NA18972.hp1 NA18994.hp1 NA19001.hp1 NA19004.hp2 NA19030.hp1 NA19056.hp1 NA19064.hp2 NA19076.hp2 NA19078.hp1 NA19085.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0001 a0001c0003t0002	a0001c0003t0001g0051 a0001c0003t0001g0052 a0001c0003t0001g0053 others(24): Show a0001c0003t0001g0051 a0001c0003t0001g0052 a0001c0003t0001g0053 a0001c0003t0001g0060 a0001c0003t0001g0072 a0001c0003t0001g0093 a0001c0003t0001g0125 a0001c0003t0002g0056 a0001c0003t0002g0113 a0001c0003t0002g0114 a0001c0003t0002g0115 a0001c0003t0002g0116 a0001c0003t0002g0117 a0001c0003t0002g0118 a0001c0003t0002g0119 a0001c0003t0002g0120 a0001c0003t0002g0121 a0001c0003t0002g0122 a0001c0003t0002g0123 a0001c0003t0002g0124 a0001c0003t0002g0126 a0001c0003t0002g0127 a0001c0003t0002g0128 a0001c0003t0002g0129 a0001c0003t0002g0235 a0001c0003t0002g0236 a0001c0003t0002g0237	27	364	0.0742	-12	c.134 others(31): Show c.1344-7818_1344-7807delAAAAAAAAAAAA	CEP83	ENSG00000173588.16	transcript	ENST00000397809.10	protein_coding	11/16			chr12	TogoVar
CEP83_chr12_94302698_94464867	94376690	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	364	0.0028	-12	c.802 others(27): Show c.802-685_802-674delGTGTGTGTGTGT	CEP83	ENSG00000173588.16	transcript	ENST00000397809.10	protein_coding	7/16			chr12	TogoVar
CEP83_chr12_94302698_94464867	94406349	AAACAACA others(5): Show AAACAACAACAAC	A A	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18962.hp1 NA19072.hp1 others(1): Show HG02056.hp2 NA18962.hp1 NA19072.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0029 a0001c0001t0007g0030 a0001c0001t0007g0031 others(1): Show a0001c0001t0007g0029 a0001c0001t0007g0030 a0001c0001t0007g0031 a0001c0001t0007g0032	4	364	0.0110	-12	c.325 others(29): Show c.325-3099_325-3088delGTTGTTGTTGTT	CEP83	ENSG00000173588.16	transcript	ENST00000397809.10	protein_coding	4/16			chr12	TogoVar
CEP83_chr12_94302698_94464867	94449779	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0235 a0001c0003t0002g0235	1	364	0.0028	-12	c.-15 others(31): Show c.-155+9766_-155+9777delTTTTTTTTTTTT	CEP83	ENSG00000173588.16	transcript	ENST00000397809.10	protein_coding	1/16			chr12	TogoVar
CEP85L_chr6_118455772_118656591	118491094	GTCTCCAC others(5): Show GTCTCCACGCTGT	G G	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0019 a0007c0007t0019	a0007c0007t0019g0299 a0007c0007t0019g0299	1	302	0.0033	-12	c.143 others(29): Show c.1437+580_1437+591delACAGCGTGGAGA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	6/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118505409	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02559.hp1 HG03130.hp1 others(2): Show HG02451.hp1 HG02559.hp1 HG03130.hp1 HG03195.hp1 NA18969.hp2	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0005c0005 a0007c0007 a0001c0001 a0005c0005 a0007c0007	a0001c0001t0001 a0005c0005t0008 a0007c0007t0011 a0001c0001t0001 a0005c0005t0008 a0007c0007t0011	a0001c0001t0001g0158 a0005c0005t0008g0296 a0007c0007t0011g0254 others(2): Show a0001c0001t0001g0158 a0005c0005t0008g0296 a0007c0007t0011g0254 a0007c0007t0011g0255 a0007c0007t0011g0256	5	302	0.0166	-12	c.125 others(31): Show c.1257+5877_1257+5888delTTTTTTTTTTTT	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	5/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118519539	CGTGTGTG others(5): Show CGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0019 a0007c0007t0019	a0007c0007t0019g0299 a0007c0007t0019g0299	1	302	0.0033	-12	c.113 others(31): Show c.1139+4251_1139+4262delACACACACACAC	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	4/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118540754	TTAAATAA others(5): Show TTAAATAAATAAA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00621.hp1 HG00639.hp1 others(49): Show HG00280.hp2 HG00621.hp1 HG00639.hp1 HG00733.hp1 HG00735.hp1 HG01071.hp1 HG01074.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01258.hp1 HG01346.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02148.hp2 HG02155.hp2 HG02258.hp2 HG02273.hp2 HG02293.hp2 HG02559.hp1 HG02717.hp2 HG02723.hp1 HG03098.hp2 HG03490.hp2 HG03491.hp2 HG03927.hp1 HG04115.hp2 NA18522.hp2 NA18941.hp2 NA18951.hp1 NA18972.hp1 NA18973.hp1 NA18974.hp2 NA18990.hp1 NA19007.hp1 NA19030.hp1 NA19062.hp2 NA19081.hp2 NA20300.hp2	a0002 a0003 a0005 others(2): Show a0002 a0003 a0005 a0010 a0011	a0002c0002 a0003c0003 a0005c0005 others(2): Show a0002c0002 a0003c0003 a0005c0005 a0010c0010 a0011c0011	a0002c0002t0002 a0003c0003t0003 a0003c0003t0016 others(4): Show a0002c0002t0002 a0003c0003t0003 a0003c0003t0016 a0005c0005t0008 a0005c0005t0015 a0010c0010t0003 a0011c0011t0008	a0002c0002t0002g0214 a0002c0002t0002g0217 a0003c0003t0003g0001 others(49): Show a0002c0002t0002g0214 a0002c0002t0002g0217 a0003c0003t0003g0001 a0003c0003t0003g0002 a0003c0003t0003g0003 a0003c0003t0003g0004 a0003c0003t0003g0005 a0003c0003t0003g0006 a0003c0003t0003g0007 a0003c0003t0003g0008 a0003c0003t0003g0009 a0003c0003t0003g0010 a0003c0003t0003g0012 a0003c0003t0003g0013 a0003c0003t0003g0014 a0003c0003t0003g0016 a0003c0003t0003g0017 a0003c0003t0003g0018 a0003c0003t0003g0019 a0003c0003t0003g0020 a0003c0003t0003g0021 a0003c0003t0003g0022 a0003c0003t0003g0023 a0003c0003t0003g0024 a0003c0003t0003g0025 a0003c0003t0003g0026 a0003c0003t0003g0027 a0003c0003t0003g0028 a0003c0003t0003g0030 a0003c0003t0003g0031 a0003c0003t0003g0032 a0003c0003t0003g0033 a0003c0003t0003g0034 a0003c0003t0003g0035 a0003c0003t0003g0036 a0003c0003t0003g0038 a0003c0003t0003g0039 a0003c0003t0003g0040 a0003c0003t0016g0011 a0005c0005t0008g0250 a0005c0005t0008g0251 a0005c0005t0008g0252 a0005c0005t0008g0286 a0005c0005t0008g0287 a0005c0005t0008g0295 a0005c0005t0008g0296 a0005c0005t0008g0297 a0005c0005t0008g0298 a0005c0005t0015g0300 a0005c0005t0015g0301 a0010c0010t0003g0015 a0011c0011t0008g0294	52	302	0.1722	-12	c.102 others(33): Show c.1021-16846_1021-16835delTTTATTTATTTA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	3/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118558626	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0008 a0005c0005t0008	a0005c0005t0008g0286 a0005c0005t0008g0286	1	302	0.0033	-12	c.102 others(31): Show c.1020+6891_1020+6902delGTGTGTGTGTGT	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	3/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118558652	CACACACA others(5): Show CACACACACAGAG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 NA20129.hp1 HG00323.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0147 a0001c0001t0001g0139 a0001c0001t0001g0147	2	302	0.0066	-12	c.102 others(31): Show c.1020+6865_1020+6876delCTCTGTGTGTGT	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	3/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118567209	ATGTGTGT others(5): Show ATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02027.hp1 HG02129.hp2 others(13): Show HG00323.hp2 HG02027.hp1 HG02129.hp2 HG02896.hp2 HG03516.hp1 HG03834.hp2 NA18955.hp1 NA18979.hp1 NA18980.hp2 NA18992.hp2 NA18999.hp2 NA19002.hp1 NA19003.hp2 NA19005.hp2 NA19012.hp1 NA19077.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0012 a0001c0001t0018 others(1): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0018 a0002c0002t0002	a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0122 others(13): Show a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0122 a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0172 a0001c0001t0012g0063 a0001c0001t0012g0065 a0001c0001t0018g0150 a0002c0002t0002g0189 a0002c0002t0002g0274	16	302	0.0530	-12	c.233 others(27): Show c.233-905_233-894delCACACACACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118567239	GTGTGTGT others(5): Show GTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02630.hp2 HG01106.hp1 HG02630.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0014 a0001c0001t0001 a0002c0002t0014	a0001c0001t0001g0159 a0002c0002t0014g0275 a0001c0001t0001g0159 a0002c0002t0014g0275	2	302	0.0066	-12	c.233 others(27): Show c.233-935_233-924delTACACACACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118572272	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02572.hp1 HG02280.hp1 HG02572.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0009 a0006c0006t0009	a0006c0006t0009g0288 a0006c0006t0009g0289 a0006c0006t0009g0288 a0006c0006t0009g0289	2	302	0.0066	-12	c.233 others(29): Show c.233-5968_233-5957delTTTTTTTTTTTT	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118590044	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00544.hp2 others(98): Show HG00323.hp1 HG00408.hp2 HG00544.hp2 HG00597.hp1 HG00621.hp2 HG00639.hp2 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01255.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01884.hp1 HG01891.hp2 HG01934.hp1 HG02027.hp2 HG02074.hp2 HG02129.hp1 HG02135.hp2 HG02145.hp1 HG02257.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03688.hp1 HG03688.hp2 HG03834.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18957.hp1 NA18964.hp2 NA18966.hp2 NA18968.hp2 NA18972.hp2 NA18973.hp2 NA18975.hp1 NA18978.hp1 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18989.hp1 NA18992.hp1 NA18999.hp1 NA19003.hp1 NA19005.hp1 NA19012.hp2 NA19074.hp2 NA19077.hp2 NA19084.hp1 NA19086.hp1 NA19240.hp1 NA20129.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0012 a0003c0003 a0002c0002 a0002c0012 a0003c0003	a0002c0002t0002 a0002c0002t0005 a0002c0002t0014 others(10): Show a0002c0002t0002 a0002c0002t0005 a0002c0002t0014 a0002c0002t0024 a0002c0002t0025 a0002c0002t0026 a0002c0002t0027 a0002c0002t0028 a0002c0002t0029 a0002c0002t0030 a0002c0002t0031 a0002c0012t0005 a0003c0003t0002	a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 others(98): Show a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0177 a0002c0002t0002g0178 a0002c0002t0002g0179 a0002c0002t0002g0183 a0002c0002t0002g0184 a0002c0002t0002g0187 a0002c0002t0002g0188 a0002c0002t0002g0189 a0002c0002t0002g0190 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0002g0196 a0002c0002t0002g0197 a0002c0002t0002g0198 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0202 a0002c0002t0002g0203 a0002c0002t0002g0204 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0207 a0002c0002t0002g0208 a0002c0002t0002g0209 a0002c0002t0002g0211 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0214 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0229 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0249 a0002c0002t0002g0257 a0002c0002t0002g0258 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0002t0002g0281 a0002c0002t0002g0290 a0002c0002t0005g0261 a0002c0002t0005g0262 a0002c0002t0005g0264 a0002c0002t0005g0265 a0002c0002t0005g0266 a0002c0002t0005g0267 a0002c0002t0005g0268 a0002c0002t0005g0269 a0002c0002t0005g0270 a0002c0002t0005g0271 a0002c0002t0005g0277 a0002c0002t0005g0283 a0002c0002t0005g0284 a0002c0002t0005g0285 a0002c0002t0014g0275 a0002c0002t0014g0276 a0002c0002t0024g0272 a0002c0002t0025g0282 a0002c0002t0026g0185 a0002c0002t0027g0186 a0002c0002t0028g0293 a0002c0002t0029g0210 a0002c0002t0030g0182 a0002c0002t0031g0302 a0002c0012t0005g0263 a0003c0003t0002g0219 a0003c0003t0002g0223 a0003c0003t0002g0232	101	302	0.3344	-12	c.233 others(31): Show c.233-23740_233-23729delGTGTGTGTGTGT	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118600275	CTGCCTGT others(5): Show CTGCCTGTCCCTG	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02976.hp1 HG02486.hp2 HG02976.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0019 a0007c0007t0020 a0007c0007t0019 a0007c0007t0020	a0007c0007t0019g0299 a0007c0007t0020g0176 a0007c0007t0019g0299 a0007c0007t0020g0176	2	302	0.0066	-12	c.232 others(31): Show c.232+32166_232+32177delCAGGGACAGGCA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118614865	CAGATAGA others(5): Show CAGATAGATAGAT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02976.hp1 HG02486.hp2 HG02976.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0019 a0007c0007t0020 a0007c0007t0019 a0007c0007t0020	a0007c0007t0019g0299 a0007c0007t0020g0176 a0007c0007t0019g0299 a0007c0007t0020g0176	2	302	0.0066	-12	c.232 others(31): Show c.232+17576_232+17587delATCTATCTATCT	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85_chr1_26229200_26283808	26250925	CTTTTTTC others(5): Show CTTTTTTCTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00639.hp2 HG01069.hp2 others(62): Show HG00544.hp1 HG00639.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01192.hp2 HG01358.hp2 HG01952.hp1 HG02056.hp2 HG02071.hp2 HG02258.hp2 HG02293.hp2 HG02572.hp2 HG02622.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03239.hp1 HG03486.hp1 HG03516.hp2 HG03579.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp2 NA18949.hp2 NA18952.hp2 NA18965.hp1 NA18966.hp2 NA18970.hp1 NA18972.hp1 NA18975.hp1 NA18977.hp1 NA18983.hp1 NA18986.hp1 NA18995.hp2 NA19009.hp1 NA19012.hp1 NA19043.hp2 NA19057.hp1 NA19067.hp1 NA19076.hp1 NA19077.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0006 a0008 a0001 a0006 a0008	a0001c0001 a0001c0009 a0006c0018 others(1): Show a0001c0001 a0001c0009 a0006c0018 a0008c0015	a0001c0001t0003 a0001c0009t0003 a0006c0018t0003 others(1): Show a0001c0001t0003 a0001c0009t0003 a0006c0018t0003 a0008c0015t0003	a0001c0001t0003g0092 a0001c0001t0003g0098 a0001c0001t0003g0099 others(62): Show a0001c0001t0003g0092 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0122 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0009t0003g0108 a0001c0009t0003g0111 a0006c0018t0003g0123 a0008c0015t0003g0163	65	342	0.1901	-12	c.209 others(29): Show c.209-4239_209-4228delCTTTTTTTTTTT	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP85_chr1_26229200_26283808	26282328	AGGGACTG others(5): Show AGGGACTGGGGCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp1 NA19085.hp2 NA18949.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0057 a0001c0001t0002g0042 a0001c0001t0002g0057	2	342	0.0059	-12	c.50 others(23): Show c.5036_*5047delGGGACTGGGGCC	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding		3521		chr1	TogoVar

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