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
CECR2_chr22_17364460_17563151	17420258	C C	CAAATAAA others(12): Show CAAATAAAGGATTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA18906.hp2 NA20129.hp2 HG02145.hp2 NA18906.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0025 a0001c0001t0049 a0001c0001t0012 a0001c0001t0025 a0001c0001t0049	a0001c0001t0012g0264 a0001c0001t0025g0297 a0001c0001t0049g0296 a0001c0001t0012g0264 a0001c0001t0025g0297 a0001c0001t0049g0296	3	324	0.0093	19	c.126 others(38): Show c.126+50349_126+50350insAAATAAAGGATTTTTTTTG		CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	1/18						chr22	TogoVar
CECR2_chr22_17364460_17563151	17481046	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01106.hp2 HG01361.hp1 others(6): Show HG01070.hp2 HG01106.hp2 HG01361.hp1 HG01884.hp1 HG02145.hp2 HG02622.hp1 HG02886.hp1 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0014 a0002c0002 others(1): Show a0001c0001 a0001c0014 a0002c0002 a0003c0025	a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0001t0013 a0001c0001t0073 a0001c0014t0013 a0002c0002t0056 a0003c0025t0007	a0001c0001t0002g0058 a0001c0001t0004g0167 a0001c0001t0004g0179 others(6): Show a0001c0001t0002g0058 a0001c0001t0004g0167 a0001c0001t0004g0179 a0001c0001t0012g0264 a0001c0001t0013g0236 a0001c0001t0073g0158 a0001c0014t0013g0253 a0002c0002t0056g0083 a0003c0025t0007g0088	9	324	0.0278	19	c.221 others(36): Show c.221+3364_221+3365insAAAAAAAAAAAAAAAAAAA		CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	2/18						chr22	TogoVar
CECR2_chr22_17364460_17563151	17481047	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0290 a0001c0001t0003g0290	1	324	0.0031	19	c.221 others(36): Show c.221+3365_221+3366insAAAAAAAAAAAAAAAAAAA		CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	2/18						chr22	TogoVar
CECR2_chr22_17364460_17563151	17525285	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0166 a0001c0001t0015g0166	1	324	0.0031	19	c.110 others(38): Show c.1108+1014_1108+1015insAAAAAAAAAAAAAAAAAAA		CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	9/18						chr22	TogoVar
CECR2_chr22_17364460_17563151	17552774	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA18969.hp1 NA19000.hp2 HG02818.hp1 NA18969.hp1 NA19000.hp2	a0003 a0007 a0003 a0007	a0003c0003 a0007c0011 a0003c0003 a0007c0011	a0003c0003t0001 a0003c0003t0007 a0007c0011t0007 a0003c0003t0001 a0003c0003t0007 a0007c0011t0007	a0003c0003t0001g0214 a0003c0003t0007g0183 a0007c0011t0007g0143 a0003c0003t0001g0214 a0003c0003t0007g0183 a0007c0011t0007g0143	3	324	0.0093	19	c.439 others(34): Show c.4390-48_4390-47insTTTTTTTTTTTTTTTTTTT		CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	18/18					INFO_REALIGN_3_PRIME	chr22	TogoVar
CELA3B_chr1_21972022_21994354	21986599	C C	CTTTGTTT others(12): Show CTTTGTTTCTGCCTTCAGCT	frameshift_variant frameshift_variant	HIGH	HG02976.hp1 HG02976.hp1	a0012 a0012	a0012c0023 a0012c0023	a0012c0023t0001 a0012c0023t0001	a0012c0023t0001g0214 a0012c0023t0001g0214	1	444	0.0023	19	c.725 others(26): Show c.725_726insCAGCTTTTGTTTCTGCCTT	p.Gly others(5): Show p.Gly243fs	CELA3B	ENSG00000219073.8	transcript	ENST00000337107.11	protein_coding	7/8	744/906	726/813	242/270		INFO_REALIGN_3_PRIME	chr1	TogoVar
CELF1_chr11_47460937_47558132	47489935	G G	GGTTTTTT others(12): Show GGTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0050 a0001c0001t0003g0050	1	340	0.0029	19	c.72- others(32): Show c.72-912_72-911insAAAAAAAAAAAAAAAAAAC		CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding	3/14						chr11	TogoVar
CELF1_chr11_47460937_47558132	47489935	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01167.hp1 HG01169.hp2 others(12): Show HG00642.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG02132.hp1 HG02148.hp2 HG02897.hp2 HG03540.hp1 HG03654.hp2 HG03831.hp1 HG04199.hp2 NA18944.hp1 NA18995.hp1 NA19065.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0130 a0001c0001t0001g0141 a0001c0001t0002g0106 others(12): Show a0001c0001t0001g0130 a0001c0001t0001g0141 a0001c0001t0002g0106 a0001c0001t0002g0264 a0001c0001t0002g0304 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0075 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0097	15	340	0.0441	19	c.72- others(32): Show c.72-930_72-912dupAAAAAAAAAAAAAAAAAAA		CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding	3/14						chr11	TogoVar
CELF2_chr10_11012872_11341675	11086578	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0047 a0001c0001t0019g0047	1	194	0.0052	19	c.74+ others(36): Show c.74+68429_74+68447dupAAAAAAAAAAAAAAAAAAA		CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11103487	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02451.hp2 HG02559.hp2 others(5): Show HG02080.hp2 HG02451.hp2 HG02559.hp2 HG02622.hp2 HG03041.hp1 HG03139.hp2 NA19090.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0008 a0001c0001t0010 a0001c0001t0022 others(5): Show a0001c0001t0008 a0001c0001t0010 a0001c0001t0022 a0001c0001t0032 a0001c0002t0001 a0001c0002t0007 a0001c0002t0009 a0001c0004t0030	a0001c0001t0008g0081 a0001c0001t0010g0015 a0001c0001t0022g0017 others(5): Show a0001c0001t0008g0081 a0001c0001t0010g0015 a0001c0001t0022g0017 a0001c0001t0032g0075 a0001c0002t0001g0160 a0001c0002t0007g0058 a0001c0002t0009g0057 a0001c0004t0030g0063	8	194	0.0412	19	c.75- others(36): Show c.75-61997_75-61979dupTTTTTTTTTTTTTTTTTTT		CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11262940	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	194	0.0052	19	c.539 others(36): Show c.539-3649_539-3631dupTTTTTTTTTTTTTTTTTTT		CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF4_chr18_37238040_37570798	37353233	A A	AAATATAT others(12): Show AAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0146	1	184	0.0054	19	c.370 others(38): Show c.370-31353_370-31352insATATATATATATATATATT		CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	2/12						chr18	TogoVar
CELF4_chr18_37238040_37570798	37547160	G G	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0183 a0001c0001t0003g0183	1	184	0.0054	19	c.286 others(38): Show c.286+18195_286+18196insACACACACACACACACACA		CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	1/12						chr18	TogoVar
CELF5_chr19_3219661_3302076	3242303	G G	GCGGGCAG others(12): Show GCGGGCAGATTACTTGAGGT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	262	0.0038	19	c.260 others(36): Show c.260-8680_260-8662dupGGGCAGATTACTTGAGGTC		CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
CELF5_chr19_3219661_3302076	3256064	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0130 a0001c0001t0002g0130	1	262	0.0038	19	c.342 others(36): Show c.342+5006_342+5007insAAAAAAAAAAAAAAAAAAA		CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
CELF5_chr19_3219661_3302076	3256064	C C	CAGAAAAA others(12): Show CAGAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01175.hp2 HG01256.hp2 others(27): Show HG00423.hp1 HG01175.hp2 HG01256.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01978.hp1 HG02040.hp1 HG02486.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02738.hp1 HG02738.hp2 HG02895.hp1 HG02897.hp1 HG03098.hp1 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03579.hp1 HG03688.hp2 HG03704.hp2 NA18522.hp2 NA18944.hp2 NA18964.hp1 NA18977.hp2 NA19087.hp1 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0010 a0001c0003t0004 a0001c0009t0005	a0001c0001t0001g0006 a0001c0001t0001g0086 a0001c0001t0001g0100 others(27): Show a0001c0001t0001g0006 a0001c0001t0001g0086 a0001c0001t0001g0100 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0215 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0002g0122 a0001c0001t0002g0198 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0003g0064 a0001c0001t0003g0111 a0001c0001t0004g0071 a0001c0001t0005g0072 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0036 a0001c0002t0002g0030 a0001c0002t0005g0035 a0001c0002t0010g0050 a0001c0003t0004g0261 a0001c0009t0005g0114	30	262	0.1145	19	c.342 others(36): Show c.342+4998_342+4999insGAAAAAAAAAAAAAAAAAA		CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
CELF6_chr15_72279727_72325157	72314589	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0166 a0001c0001t0002g0166	1	300	0.0033	19	c.345 others(36): Show c.345+1237_345+1255dupAAAAAAAAAAAAAAAAAAA		CELF6	ENSG00000140488.16	transcript	ENST00000287202.10	protein_coding	2/12						chr15	TogoVar
CELSR1_chr22_46356174_46542620	46365770	G G	GCCCCTAC others(12): Show GCCCCTACCCCTTCTGTGTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0029 a0029	a0029c0037 a0029c0037	a0029c0037t0006 a0029c0037t0006	a0029c0037t0006g0002 a0029c0037t0006g0002	1	104	0.0096	19	c.830 others(35): Show c.8301-100_8301-82dupAACACAGAAGGGGTAGGGG		CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	30/34						chr22	TogoVar
CELSR1_chr22_46356174_46542620	46467126	A A	AATAAATT others(12): Show AATAAATTAACATGCTAAAC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0016 a0016	a0016c0047 a0016c0047	a0016c0047t0001 a0016c0047t0001	a0016c0047t0001g0035 a0016c0047t0001g0035	1	104	0.0096	19	c.354 others(38): Show c.3545-2800_3545-2782dupGTTTAGCATGTTAATTTAT		CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	1/34						chr22	TogoVar
CEMIP2_chr9_71678366_71773513	71725018	T T	TGTTGCAC others(12): Show TGTTGCACATACCTGTATGC	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0011 a0005c0004t0011	a0005c0004t0011g0008 a0005c0004t0011g0008	1	320	0.0031	19	c.217 others(36): Show c.2178+544_2178+562dupGCATACAGGTATGTGCAAC		CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	11/23						chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71725037	C C	CGTTGCAC others(12): Show CGTTGCACATACCTGTATGT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01167.hp1 HG01169.hp2 others(18): Show HG01070.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01261.hp1 HG01981.hp2 HG03669.hp1 HG03710.hp2 HG03834.hp2 HG04115.hp2 NA18941.hp1 NA18944.hp2 NA18945.hp2 NA18953.hp1 NA18962.hp1 NA18969.hp2 NA18971.hp1 NA18983.hp1 NA18993.hp2 NA19000.hp1 NA19079.hp2	a0005 a0008 a0005 a0008	a0005c0004 a0008c0011 a0005c0004 a0008c0011	a0005c0004t0001 a0005c0004t0007 a0005c0004t0011 others(7): Show a0005c0004t0001 a0005c0004t0007 a0005c0004t0011 a0005c0004t0022 a0005c0004t0031 a0005c0004t0032 a0005c0004t0033 a0005c0004t0034 a0008c0011t0015 a0008c0011t0030	a0005c0004t0001g0233 a0005c0004t0007g0131 a0005c0004t0011g0005 others(18): Show a0005c0004t0001g0233 a0005c0004t0007g0131 a0005c0004t0011g0005 a0005c0004t0011g0006 a0005c0004t0011g0009 a0005c0004t0011g0010 a0005c0004t0011g0014 a0005c0004t0011g0017 a0005c0004t0011g0022 a0005c0004t0022g0003 a0005c0004t0022g0020 a0005c0004t0031g0004 a0005c0004t0032g0012 a0005c0004t0033g0011 a0005c0004t0034g0019 a0008c0011t0015g0007 a0008c0011t0015g0015 a0008c0011t0015g0016 a0008c0011t0015g0018 a0008c0011t0015g0023 a0008c0011t0030g0021	21	320	0.0656	19	c.217 others(36): Show c.2178+543_2178+544insACATACAGGTATGTGCAAC		CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	11/23						chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71732686	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0006 a0001c0013t0006	a0001c0013t0006g0032 a0001c0013t0006g0032	1	320	0.0031	19	c.139 others(36): Show c.1394-185_1394-167dupAAAAAAAAAAAAAAAAAAA		CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	6/23						chr9	TogoVar
CEMIP_chr15_80774370_80956771	80839289	A A	ATGTGTGT others(12): Show ATGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03471.hp1 HG03130.hp2 HG03471.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0032 a0001c0001 a0010c0032	a0001c0001t0001 a0010c0032t0004 a0001c0001t0001 a0010c0032t0004	a0001c0001t0001g0112 a0010c0032t0004g0075 a0001c0001t0001g0112 a0010c0032t0004g0075	2	254	0.0079	19	c.-17 others(40): Show c.-175-34249_-175-34248insTGTGTGTGTGTGTGTGTGT		CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	1/29						chr15	TogoVar
CEMIP_chr15_80774370_80956771	80900585	G G	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	254	0.0039	19	c.141 others(38): Show c.1411+4525_1411+4526insTGTGTGTGTGTGTGTGTGT		CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	12/29						chr15	TogoVar
CEMP1_chr16_2525035_2536408	2533430	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00544.hp1 others(23): Show HG00408.hp2 HG00423.hp1 HG00544.hp1 HG01074.hp2 HG01175.hp2 HG01496.hp2 HG01952.hp1 HG01993.hp1 HG02056.hp2 HG02135.hp2 HG02273.hp2 HG03704.hp1 HG03704.hp2 HG04204.hp2 NA18942.hp2 NA18945.hp1 NA18948.hp2 NA18957.hp1 NA18962.hp2 NA18966.hp2 NA18970.hp1 NA18986.hp1 NA19030.hp2 NA19054.hp2 NA19074.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0000 a0001c0001t0008g0000 a0001c0001t0001g0000 a0001c0001t0008g0000	26	348	0.0747	19	c.-23 others(30): Show c.-2358_-2357insAAAAAAAAAAAAAAAAAAA		CEMP1	ENSG00000205923.3	transcript	ENST00000567119.1	protein_coding					2023		chr16	TogoVar
CEMP1_chr16_2525035_2536408	2533460	T T	TTTTTTTT others(12): Show TTTTTTTTTTTTTTTTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	348	0.0029	19	c.-23 others(30): Show c.-2388_-2387insCAAAAAAAAAAAAAAAAAA		CEMP1	ENSG00000205923.3	transcript	ENST00000567119.1	protein_coding					2053		chr16	TogoVar
CENPA_chr2_26781056_26799589	26784448	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02135.hp2 HG03492.hp2 others(1): Show HG01243.hp1 HG02135.hp2 HG03492.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0011	4	382	0.0105	19	c.-17 others(30): Show c.-1749_-1748insTTTTTTTTTTTTTTTTTTT		CENPA	ENSG00000115163.15	transcript	ENST00000335756.9	protein_coding					1607		chr2	TogoVar
CENPH_chr5_69184583_69215357	69200719	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA18985.hp2 NA19058.hp1 others(1): Show HG04184.hp1 NA18985.hp2 NA19058.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0237 a0001c0001t0001g0246 others(1): Show a0001c0001t0001g0232 a0001c0001t0001g0237 a0001c0001t0001g0246 a0001c0001t0001g0261	4	388	0.0103	19	c.372 others(36): Show c.372-1771_372-1753dupTTTTTTTTTTTTTTTTTTT		CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr5	TogoVar
CENPK_chr5_65512766_65568168	65514228	A A	ATATTTTT others(12): Show ATATTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0305 a0001c0003t0001g0305	1	374	0.0027	19	c.42 others(30): Show c.4246_*4247insAAAAAAAAAAAAAAAAATA		CENPK	ENSG00000123219.13	transcript	ENST00000396679.6	protein_coding					3537		chr5	TogoVar
CENPO_chr2_24788425_24827376	24817466	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01346.hp1 HG02572.hp1 others(3): Show HG01243.hp1 HG01346.hp1 HG02572.hp1 NA18939.hp1 NA19043.hp2 NA19054.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0009 a0001c0001t0023 a0001c0001t0039 others(1): Show a0001c0001t0009 a0001c0001t0023 a0001c0001t0039 a0002c0002t0003	a0001c0001t0009g0262 a0001c0001t0023g0221 a0001c0001t0039g0222 others(3): Show a0001c0001t0009g0262 a0001c0001t0023g0221 a0001c0001t0039g0222 a0002c0002t0003g0057 a0002c0002t0003g0081 a0002c0002t0003g0089	6	382	0.0157	19	c.767 others(34): Show c.767-194_767-193insAAAAAAAAAAAAAAAAAAA		CENPO	ENSG00000138092.11	transcript	ENST00000380834.7	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
CENPP_chr9_92320953_92625529	92532015	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA19011.hp1 NA18957.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0140 a0001c0001t0003g0168 a0001c0001t0003g0140 a0001c0001t0003g0168	2	260	0.0077	19	c.565 others(38): Show c.565-79286_565-79285insTTTTTTTTTTTTTTTTTTT		CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92533328	A A	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	260	0.0039	19	c.565 others(38): Show c.565-77985_565-77984insAAAAAAAAATATATATATA		CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92533328	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	260	0.0039	19	c.565 others(38): Show c.565-77985_565-77984insAAATATATATATATATATA		CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92535136	T T	TAGATACT others(12): Show TAGATACTTTTACTTACCTA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00597.hp2 HG00639.hp2 others(50): Show HG00140.hp2 HG00597.hp2 HG00639.hp2 HG00673.hp2 HG01081.hp2 HG01243.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG02698.hp1 HG02717.hp1 HG02735.hp2 HG02809.hp1 HG02895.hp2 HG02922.hp2 HG03453.hp2 HG03516.hp2 HG03688.hp2 HG03927.hp1 HG04184.hp2 NA18942.hp1 NA18944.hp1 NA18947.hp1 NA18950.hp1 NA18951.hp1 NA18955.hp1 NA18957.hp2 NA18962.hp1 NA18966.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18975.hp2 NA18979.hp1 NA18988.hp2 NA18992.hp2 NA18994.hp1 NA19000.hp1 NA19003.hp2 NA19011.hp1 NA19054.hp2 NA19058.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19084.hp2 NA19087.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0014 a0001c0001t0017 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034	a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 others(50): Show a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0144 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0007g0185 a0001c0001t0007g0186 a0001c0001t0007g0187 a0001c0001t0007g0188 a0001c0001t0007g0189 a0001c0001t0007g0190 a0001c0001t0007g0192 a0001c0001t0007g0193 a0001c0001t0010g0075 a0001c0001t0010g0146 a0001c0001t0010g0147 a0001c0001t0010g0148 a0001c0001t0010g0150 a0001c0001t0010g0231 a0001c0001t0014g0163 a0001c0001t0014g0164 a0001c0001t0014g0165 a0001c0001t0017g0184 a0001c0001t0017g0191 a0001c0001t0031g0145 a0001c0001t0032g0166 a0001c0001t0033g0154 a0001c0001t0034g0162	53	260	0.2039	19	c.565 others(38): Show c.565-76178_565-76177insAGATACTTTTACTTACCTA		CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7						chr9	TogoVar
CEP112_chr17_65630537_66197133	65654056	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03139.hp1 HG06807.hp2 HG02723.hp1 HG03139.hp1 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 a0001c0002t0001 a0001c0003t0001 a0002c0001t0001	a0001c0002t0001g0034 a0001c0003t0001g0082 a0002c0001t0001g0031 a0001c0002t0001g0034 a0001c0003t0001g0082 a0002c0001t0001g0031	3	112	0.0268	19	c.269 others(40): Show c.2698-13010_2698-12992dupTTTTTTTTTTTTTTTTTTT		CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	24/26						chr17	TogoVar
CEP120_chr5_123339892_123428403	123360653	G G	GCAAGAGG others(12): Show GCAAGAGGGTAGGAAATACA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00423.hp1 others(159): Show HG00280.hp1 HG00323.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG01070.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01358.hp2 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01943.hp1 HG01975.hp2 HG01981.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02273.hp1 HG02293.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02965.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03453.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03688.hp2 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18944.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18972.hp1 NA18972.hp2 NA18974.hp2 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19002.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19030.hp1 NA19054.hp2 NA19057.hp2 NA19058.hp1 NA19059.hp1 NA19059.hp2 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19076.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19083.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA20129.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0006 a0002c0002 a0002c0009 others(4): Show a0001c0006 a0002c0002 a0002c0009 a0002c0015 a0003c0003 a0003c0018 a0010c0019	a0001c0006t0001 a0001c0006t0008 a0001c0006t0009 others(10): Show a0001c0006t0001 a0001c0006t0008 a0001c0006t0009 a0002c0002t0001 a0002c0002t0014 a0002c0002t0018 a0002c0009t0001 a0002c0009t0010 a0002c0015t0001 a0003c0003t0001 a0003c0003t0017 a0003c0018t0001 a0010c0019t0003	a0001c0006t0001g0103 a0001c0006t0008g0010 a0001c0006t0009g0030 others(141): Show a0001c0006t0001g0103 a0001c0006t0008g0010 a0001c0006t0009g0030 a0002c0002t0001g0005 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0032 a0002c0002t0001g0095 a0002c0002t0001g0102 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0138 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0294 a0002c0002t0014g0124 a0002c0002t0018g0328 a0002c0009t0001g0125 a0002c0009t0010g0031 a0002c0015t0001g0318 a0003c0003t0001g0002 a0003c0003t0001g0003 a0003c0003t0001g0020 a0003c0003t0001g0021 a0003c0003t0001g0022 a0003c0003t0001g0101 a0003c0003t0001g0115 a0003c0003t0001g0133 a0003c0003t0001g0134 a0003c0003t0001g0135 a0003c0003t0001g0136 a0003c0003t0001g0137 a0003c0003t0001g0139 a0003c0003t0001g0140 a0003c0003t0001g0141 a0003c0003t0001g0142 a0003c0003t0001g0173 a0003c0003t0001g0176 a0003c0003t0001g0178 a0003c0003t0001g0179 a0003c0003t0001g0180 a0003c0003t0001g0181 a0003c0003t0001g0182 a0003c0003t0001g0183 a0003c0003t0001g0184 a0003c0003t0001g0185 a0003c0003t0001g0186 a0003c0003t0001g0187 a0003c0003t0001g0188 a0003c0003t0001g0189 a0003c0003t0001g0190 a0003c0003t0001g0191 a0003c0003t0001g0192 a0003c0003t0001g0193 a0003c0003t0001g0194 a0003c0003t0001g0195 a0003c0003t0001g0196 a0003c0003t0001g0197 a0003c0003t0001g0291 a0003c0003t0001g0292 a0003c0003t0001g0293 a0003c0003t0001g0295 a0003c0003t0001g0296 a0003c0003t0001g0297 a0003c0003t0001g0298 a0003c0003t0001g0299 a0003c0003t0001g0300 a0003c0003t0001g0301 a0003c0003t0001g0302 a0003c0003t0001g0303 a0003c0003t0001g0305 a0003c0003t0001g0306 a0003c0003t0001g0307 a0003c0003t0001g0308 a0003c0003t0001g0309 a0003c0003t0001g0310 a0003c0003t0001g0311 a0003c0003t0001g0312 a0003c0003t0001g0313 a0003c0003t0001g0314 a0003c0003t0001g0319 a0003c0003t0017g0177 a0003c0018t0001g0304 a0010c0019t0003g0108	162	376	0.4309	19	c.258 others(38): Show c.2580+3824_2580+3842dupTGTATTTCCTACCCTCTTG		CEP120	ENSG00000168944.17	transcript	ENST00000306467.10	protein_coding	18/19						chr5	TogoVar
CEP120_chr5_123339892_123428403	123414971	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0007 a0007	a0007c0017 a0007c0017	a0007c0017t0002 a0007c0017t0002	a0007c0017t0002g0209 a0007c0017t0002g0209	1	376	0.0027	19	c.321 others(36): Show c.321+1020_321+1038dupTTTTTTTTTTTTTTTTTTT		CEP120	ENSG00000168944.17	transcript	ENST00000306467.10	protein_coding	3/19						chr5	TogoVar
CEP126_chr11_101910010_102006062	101938159	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0278 a0001c0001t0002g0278	1	336	0.0030	19	c.249 others(36): Show c.249-6089_249-6088insAAAAAAAAAAAAAAAAAAA		CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP131_chr17_81184596_81227965	81196373	C C	CCTGGAGG others(12): Show CCTGGAGGCCCCTATTCTCA	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0216 a0001c0018t0001g0216	1	384	0.0026	19	c.189 others(36): Show c.1899+309_1899+327dupTGAGAATAGGGGCCTCCAG		CEP131	ENSG00000141577.14	transcript	ENST00000450824.7	protein_coding	15/25						chr17	TogoVar
CEP152_chr15_48732938_48816069	48765636	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	342	0.0029	19	c.228 others(38): Show c.2280+1405_2280+1423dupAAAAAAAAAAAAAAAAAAA		CEP152	ENSG00000103995.14	transcript	ENST00000380950.7	protein_coding	17/26						chr15	TogoVar
CEP162_chr6_84119250_84232643	84159548	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0090 a0003c0003t0003g0090	1	214	0.0047	19	c.278 others(38): Show c.2781+1263_2781+1264insTATATATATATATATATAT		CEP162	ENSG00000135315.12	transcript	ENST00000403245.8	protein_coding	21/26						chr6	TogoVar
CEP170_chr1_243119428_243260281	243159763	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	303	0.0033	19	c.367 others(38): Show c.3677-3309_3677-3308insCACACACACACACACACAC		CEP170	ENSG00000143702.16	transcript	ENST00000366542.6	protein_coding	13/19						chr1	TogoVar
CEP250_chr20_35450598_35524280	35451050	A A	ATATATAT others(12): Show ATATATATATATATAAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG02165.hp1 HG03098.hp1 others(1): Show HG00741.hp2 HG02165.hp1 HG03098.hp1 HG03540.hp2	a0001 a0015 a0001 a0015	a0001c0001 a0001c0021 a0015c0022 a0001c0001 a0001c0021 a0015c0022	a0001c0001t0001 a0001c0021t0056 a0015c0022t0026 a0001c0001t0001 a0001c0021t0056 a0015c0022t0026	a0001c0001t0001g0174 a0001c0001t0001g0188 a0001c0021t0056g0231 others(1): Show a0001c0001t0001g0174 a0001c0001t0001g0188 a0001c0021t0056g0231 a0015c0022t0026g0182	4	260	0.0154	19	c.-49 others(30): Show c.-4999_-4998insTATATATATATATAAATAT		CEP250	ENSG00000126001.17	transcript	ENST00000397527.6	protein_coding					4547		chr20	TogoVar
CEP63_chr3_134481057_134570031	134547614	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00741.hp2 others(6): Show HG00140.hp1 HG00280.hp2 HG00741.hp2 HG01081.hp2 NA18986.hp1 NA18998.hp1 NA19030.hp2 NA19056.hp2 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0001c0001t0001 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0287 a0001c0001t0001g0305 a0001c0001t0001g0306 others(6): Show a0001c0001t0001g0287 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0003t0001g0153 a0002c0002t0001g0234 a0002c0002t0001g0261 a0002c0002t0001g0277 a0002c0002t0001g0284 a0002c0002t0001g0285	9	322	0.0280	19	c.106 others(36): Show c.1067+157_1067+158insTTTTTTTTTTTTTTTTTTT		CEP63	ENSG00000182923.20	transcript	ENST00000675561.1	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr3	TogoVar
CEP72_chr5_607340_658553	650982	C C	CTGTGAGG others(12): Show CTGTGAGGTGTGACTGTGGG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01069.hp2 HG01243.hp1 others(11): Show HG00735.hp1 HG01069.hp2 HG01243.hp1 HG01981.hp2 HG02602.hp1 HG02683.hp1 HG02683.hp2 HG02738.hp2 HG03688.hp1 HG03834.hp2 HG04115.hp2 HG04228.hp2 NA18942.hp1 NA18982.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0007 a0002c0002 a0005c0007	a0002c0002t0001 a0005c0007t0001 a0002c0002t0001 a0005c0007t0001	a0002c0002t0001g0070 a0002c0002t0001g0072 a0002c0002t0001g0073 others(11): Show a0002c0002t0001g0070 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0088 a0005c0007t0001g0076	14	91	0.1539	19	c.177 others(38): Show c.1779-1989_1779-1988insGGTGTGAGGTGTGACTGTG		CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP76_chr18_12667625_12707723	12679388	G G	GAGGCAGG others(12): Show GAGGCAGGAAGCACACTAGC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	380	0.0026	19	c.129 others(36): Show c.1290-965_1290-947dupGCTAGTGTGCTTCCTGCCT		CEP76	ENSG00000101624.11	transcript	ENST00000262127.7	protein_coding	9/11						chr18	TogoVar
CEP76_chr18_12667625_12707723	12679413	G G	GGAAGCAC others(12): Show GGAAGCACACTAGCAGGCAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0179 a0001c0001t0005g0179	1	380	0.0026	19	c.129 others(36): Show c.1290-990_1290-972dupGTGCCTGCTAGTGTGCTTC		CEP76	ENSG00000101624.11	transcript	ENST00000262127.7	protein_coding	9/11						chr18	TogoVar
CEP83_chr12_94302698_94464867	94338120	G G	GGTCCAAG others(12): Show GGTCCAAGAAGCGTCTAGGT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	364	0.0028	19	c.134 others(38): Show c.1344-2475_1344-2457dupACCTAGACGCTTCTTGGAC		CEP83	ENSG00000173588.16	transcript	ENST00000397809.10	protein_coding	11/16						chr12	TogoVar
CEP85L_chr6_118455772_118656591	118542900	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA18941.hp2 homoSapiens_chm13v2.hp1 HG01884.hp1 NA18941.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0202 a0002c0002t0002g0217 a0002c0002t0002g0243 a0002c0002t0002g0202 a0002c0002t0002g0217 a0002c0002t0002g0243	3	302	0.0099	19	c.102 others(40): Show c.1021-18999_1021-18981dupTTTTTTTTTTTTTTTTTTT		CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	3/12						chr6	TogoVar
CEP85L_chr6_118455772_118656591	118600300	G G	GGGGGGGG others(12): Show GGGGGGGGGGGGGGGGGGGT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0216 a0002c0002t0002g0216	1	302	0.0033	19	c.232 others(38): Show c.232+32152_232+32153insACCCCCCCCCCCCCCCCCC		CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12						chr6	TogoVar

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