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
CELF2_chr10_11012872_11341675	11107855	A A	ATCCCTTC others(10): Show ATCCCTTCTCCCATCTCC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp2 HG02280.hp1 others(6): Show HG01891.hp1 HG02258.hp2 HG02280.hp1 HG02647.hp2 HG02965.hp1 HG03130.hp1 HG03225.hp2 NA18906.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0021 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0021 a0001c0001t0025 a0001c0001t0046 a0001c0002t0002 a0001c0002t0014 a0001c0004t0001	a0001c0001t0001g0031 a0001c0001t0003g0062 a0001c0001t0003g0171 others(6): Show a0001c0001t0001g0031 a0001c0001t0003g0062 a0001c0001t0003g0171 a0001c0001t0021g0076 a0001c0001t0025g0012 a0001c0001t0046g0069 a0001c0002t0002g0011 a0001c0002t0014g0040 a0001c0004t0001g0077	9	194	0.0464	17	c.75- others(34): Show c.75-57623_75-57622insCCCATCTCCTCCCTTCT	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11107864	A A	ACCATCTC others(10): Show ACCATCTCCTCCCTTCTC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01433.hp1 HG01981.hp2 HG00621.hp1 HG01433.hp1 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0028 a0001c0002t0001 a0001c0002t0002 a0001c0001t0028 a0001c0002t0001 a0001c0002t0002	a0001c0001t0028g0192 a0001c0002t0001g0112 a0001c0002t0002g0090 a0001c0001t0028g0192 a0001c0002t0001g0112 a0001c0002t0002g0090	3	194	0.0155	17	c.75- others(34): Show c.75-57583_75-57567dupCTCCTCCCTTCTCCCAT	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11107910	C C	CTTCTCCC others(10): Show CTTCTCCCATCTCCTCCG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0068 a0001c0002t0002g0068	1	194	0.0052	17	c.75- others(34): Show c.75-57567_75-57566insCTCCTCCGTTCTCCCAT	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11108050	A A	ACCTCTCC others(10): Show ACCTCTCCCCACTCCCTC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00544.hp1 others(62): Show HG00323.hp2 HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG01081.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp2 HG01891.hp1 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG02074.hp1 HG02080.hp2 HG02109.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp2 HG02523.hp1 HG02602.hp2 HG02622.hp2 HG02647.hp2 HG02698.hp1 HG02965.hp1 HG03017.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03490.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18975.hp1 NA18983.hp1 NA18983.hp2 NA19002.hp2 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19090.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0009 a0001c0010 a0002c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(32): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0001t0031 a0001c0001t0032 a0001c0001t0035 a0001c0001t0036 a0001c0001t0046 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0014 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0008 a0001c0003t0015 a0001c0003t0016 a0001c0003t0038 a0001c0004t0001 a0001c0004t0011 a0001c0005t0001 a0001c0005t0052 a0001c0009t0006 a0001c0010t0015 a0002c0007t0037	a0001c0001t0001g0031 a0001c0001t0001g0085 a0001c0001t0001g0086 others(62): Show a0001c0001t0001g0031 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0161 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0003g0062 a0001c0001t0003g0171 a0001c0001t0004g0138 a0001c0001t0004g0179 a0001c0001t0006g0118 a0001c0001t0008g0081 a0001c0001t0011g0080 a0001c0001t0013g0178 a0001c0001t0021g0076 a0001c0001t0022g0017 a0001c0001t0025g0012 a0001c0001t0031g0145 a0001c0001t0032g0075 a0001c0001t0035g0095 a0001c0001t0036g0016 a0001c0001t0046g0069 a0001c0002t0001g0014 a0001c0002t0001g0116 a0001c0002t0001g0136 a0001c0002t0001g0146 a0001c0002t0001g0160 a0001c0002t0001g0176 a0001c0002t0001g0184 a0001c0002t0002g0011 a0001c0002t0002g0096 a0001c0002t0002g0170 a0001c0002t0002g0193 a0001c0002t0004g0120 a0001c0002t0004g0147 a0001c0002t0014g0037 a0001c0003t0001g0133 a0001c0003t0002g0181 a0001c0003t0003g0137 a0001c0003t0003g0150 a0001c0003t0003g0151 a0001c0003t0004g0130 a0001c0003t0005g0064 a0001c0003t0008g0129 a0001c0003t0015g0132 a0001c0003t0016g0070 a0001c0003t0038g0131 a0001c0004t0001g0077 a0001c0004t0001g0113 a0001c0004t0001g0124 a0001c0004t0011g0122 a0001c0005t0001g0110 a0001c0005t0001g0163 a0001c0005t0052g0144 a0001c0009t0006g0125 a0001c0010t0015g0159 a0002c0007t0037g0164	65	194	0.3351	17	c.75- others(34): Show c.75-57419_75-57403dupCCCTCTCCCCACTCCCT	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11229363	T T	TCTTCCTG others(10): Show TCTTCCTGGCCATCTACC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp1 HG02280.hp1 others(11): Show HG02109.hp1 HG02145.hp1 HG02280.hp1 HG02486.hp1 HG02559.hp1 HG02615.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1 NA18906.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0002t0014 a0001c0002t0023 a0001c0002t0051 a0001c0003t0002 a0001c0003t0009 a0001c0004t0001	a0001c0001t0001g0010 a0001c0001t0003g0171 a0001c0001t0017g0041 others(11): Show a0001c0001t0001g0010 a0001c0001t0003g0171 a0001c0001t0017g0041 a0001c0002t0001g0054 a0001c0002t0002g0011 a0001c0002t0002g0052 a0001c0002t0005g0005 a0001c0002t0007g0058 a0001c0002t0014g0040 a0001c0002t0023g0053 a0001c0002t0051g0020 a0001c0003t0002g0021 a0001c0003t0009g0043 a0001c0004t0001g0077	14	194	0.0722	17	c.354 others(36): Show c.354+11858_354+11874dupTTCCTGGCCATCTACCC	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11262940	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0037 a0002c0007t0037	a0002c0007t0037g0164 a0002c0007t0037g0164	1	194	0.0052	17	c.539 others(34): Show c.539-3647_539-3631dupTTTTTTTTTTTTTTTTT	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(10): Show AAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03927.hp2 HG01109.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0001 a0001c0001t0005 a0001c0002t0001	a0001c0001t0005g0140 a0001c0002t0001g0054 a0001c0001t0005g0140 a0001c0002t0001g0054	2	184	0.0109	17	c.370 others(36): Show c.370-31353_370-31352insATATATATATATATATT	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	2/12			chr18	TogoVar
CELF4_chr18_37238040_37570798	37543874	G G	GCAGGGAG others(10): Show GCAGGGAGGCTGAAGCTC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0162 a0001c0001t0025g0162	1	184	0.0054	17	c.286 others(36): Show c.286+21465_286+21481dupGAGCTTCAGCCTCCCTG	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	1/12			chr18	TogoVar
CELF5_chr19_3219661_3302076	3226475	C C	CACACACA others(10): Show CACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	262	0.0038	17	c.259 others(34): Show c.259+1478_259+1479insCACACACACACACACAA	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(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	262	0.0038	17	c.342 others(34): Show c.342+5006_342+5007insAAAAAAAAAAAAAAAAA	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CELF5_chr19_3219661_3302076	3299553	C C	CTTCTTCT others(10): Show CTTCTTCTTCTTCTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0073 a0001c0001t0004g0073	1	262	0.0038	17	c.28 others(28): Show c.2836_*2837insTTCTTCTTCTTCTTCTT	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding		2478		chr19	TogoVar
CELF5_chr19_3219661_3302076	3299556	C C	CTTCTTCT others(10): Show CTTCTTCTTCTTCTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0164 a0001c0001t0005g0164	1	262	0.0038	17	c.28 others(28): Show c.2839_*2840insTTCTTCTTCTTCTTCTT	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding		2481		chr19	TogoVar
CELF5_chr19_3219661_3302076	3299578	T T	TTCTTCTT others(10): Show TTCTTCTTCTTCTTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0199 a0001c0001t0002g0199	1	262	0.0038	17	c.28 others(28): Show c.2861_*2862insTCTTCTTCTTCTTCTTC	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding		2503		chr19	TogoVar
CELF6_chr15_72279727_72325157	72314589	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01952.hp2 HG01993.hp1 others(2): Show HG01934.hp2 HG01952.hp2 HG01993.hp1 HG02293.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0018 a0001c0001t0003g0194 a0001c0001t0005g0159 a0001c0001t0003g0018 a0001c0001t0003g0194 a0001c0001t0005g0159	5	300	0.0167	17	c.345 others(34): Show c.345+1239_345+1255dupAAAAAAAAAAAAAAAAA	CELF6	ENSG00000140488.16	transcript	ENST00000287202.10	protein_coding	2/12			chr15	TogoVar
CELF6_chr15_72279727_72325157	72325128	T T	TTTTCTTT others(10): Show TTTTCTTTCTTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0136 a0001c0001t0003g0136	1	300	0.0033	17	c.-52 others(28): Show c.-5255_-5254insGAAAGAAAAGAAAGAAA	CELF6	ENSG00000140488.16	transcript	ENST00000287202.10	protein_coding		4972		chr15	TogoVar
CELSR1_chr22_46356174_46542620	46360318	T T	TGGTGGAC others(10): Show TGGTGGACCTGCTGCTCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0028 a0028	a0028c0049 a0028c0049	a0028c0049t0001 a0028c0049t0001	a0028c0049t0001g0086 a0028c0049t0001g0086	1	104	0.0096	17	c.29 others(28): Show c.2904_*2905insCGAGCAGCAGGTCCACC	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding		855		chr22	TogoVar
CELSR1_chr22_46356174_46542620	46365839	T T	TGGTGGGG others(10): Show TGGTGGGGGGAAAGGTTG	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02145.hp2 HG02132.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0043 a0001c0006t0001g0064 a0001c0001t0001g0043 a0001c0006t0001g0064	2	104	0.0192	17	c.830 others(34): Show c.8301-167_8301-151dupCAACCTTTCCCCCCACC	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	30/34			chr22	TogoVar
CEMIP2_chr9_71678366_71773513	71755381	A A	ACACACAC others(10): Show ACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0028 a0007c0010t0028	a0007c0010t0028g0046 a0007c0010t0028g0046	1	320	0.0031	17	c.-12 others(34): Show c.-12-4997_-12-4996insGTGTGTGTGTGTGTGTG	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	1/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71762503	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0005 a0005	a0005c0017 a0005c0017	a0005c0017t0048 a0005c0017t0048	a0005c0017t0048g0292 a0005c0017t0048g0292	1	320	0.0031	17	c.-13 others(34): Show c.-13+5837_-13+5853dupTTTTTTTTTTTTTTTTT	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	1/23			chr9	TogoVar
CEMIP_chr15_80774370_80956771	80839289	A A	ATGTGTGT others(10): Show ATGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02622.hp1 HG02630.hp1 others(3): Show HG02559.hp1 HG02622.hp1 HG02630.hp1 HG03516.hp1 HG06807.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0012 others(1): Show a0001c0003 a0001c0005 a0001c0012 a0001c0013	a0001c0003t0001 a0001c0003t0006 a0001c0005t0008 others(2): Show a0001c0003t0001 a0001c0003t0006 a0001c0005t0008 a0001c0012t0001 a0001c0013t0004	a0001c0003t0001g0076 a0001c0003t0001g0121 a0001c0003t0006g0253 others(3): Show a0001c0003t0001g0076 a0001c0003t0001g0121 a0001c0003t0006g0253 a0001c0005t0008g0115 a0001c0012t0001g0114 a0001c0013t0004g0113	6	254	0.0236	17	c.-17 others(38): Show c.-175-34249_-175-34248insTGTGTGTGTGTGTGTGT	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	1/29			chr15	TogoVar
CEMP1_chr16_2525035_2536408	2527239	C C	CCCTGCTG others(10): Show CCCTGCTGCTCCCAGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02896.hp2 HG02922.hp2 others(4): Show HG02717.hp2 HG02896.hp2 HG02922.hp2 HG02970.hp1 HG03579.hp2 NA19043.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005	a0002c0002t0001g0000 a0002c0002t0002g0000 a0002c0002t0005g0000 a0002c0002t0001g0000 a0002c0002t0002g0000 a0002c0002t0005g0000	7	348	0.0201	17	c.30 others(28): Show c.3074_*3090dupCTCCTGGGAGCAGCAGG	CEMP1	ENSG00000205923.3	transcript	ENST00000567119.1	protein_coding		2795		chr16	TogoVar
CEMP1_chr16_2525035_2536408	2533430	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00558.hp2 HG02165.hp1 others(11): Show HG00323.hp1 HG00558.hp2 HG02165.hp1 HG02615.hp2 HG02886.hp2 HG02922.hp1 HG03453.hp2 HG03710.hp2 HG04184.hp2 NA18747.hp2 NA18946.hp2 NA18969.hp2 NA19065.hp1 NA19065.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0000 a0003c0003t0001g0000 a0001c0001t0001g0000 a0003c0003t0001g0000	14	348	0.0402	17	c.-23 others(28): Show c.-2358_-2357insAAAAAAAAAAAAAAAAA	CEMP1	ENSG00000205923.3	transcript	ENST00000567119.1	protein_coding		2023		chr16	TogoVar
CEMP1_chr16_2525035_2536408	2533460	T T	TTTTTTTT others(10): Show TTTTTTTTTTTTTTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	348	0.0029	17	c.-23 others(28): Show c.-2388_-2387insCAAAAAAAAAAAAAAAA	CEMP1	ENSG00000205923.3	transcript	ENST00000567119.1	protein_coding		2053		chr16	TogoVar
CEMP1_chr16_2525035_2536408	2533461	T T	TTTTTTTT others(10): Show TTTTTTTTTTTTTTTTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	348	0.0029	17	c.-23 others(28): Show c.-2389_-2388insTAAAAAAAAAAAAAAAA	CEMP1	ENSG00000205923.3	transcript	ENST00000567119.1	protein_coding		2054		chr16	TogoVar
CEMP1_chr16_2525035_2536408	2534773	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 NA19043.hp1 HG03579.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	2	348	0.0058	17	c.-37 others(28): Show c.-3701_-3700insAAAAAAAAAAAAAAAAA	CEMP1	ENSG00000205923.3	transcript	ENST00000567119.1	protein_coding		3366		chr16	TogoVar
CENATAC_chr11_118993138_119020793	119006075	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	318	0.0031	17	c.384 others(34): Show c.384-4675_384-4659dupTTTTTTTTTTTTTTTTT	CENATAC	ENSG00000186166.9	transcript	ENST00000334418.6	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CENPA_chr2_26781056_26799589	26784448	C C	CTCTTTTT others(10): Show CTCTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	382	0.0026	17	c.-17 others(28): Show c.-1749_-1748insTCTTTTTTTTTTTTTTT	CENPA	ENSG00000115163.15	transcript	ENST00000335756.9	protein_coding		1607		chr2	TogoVar
CENPA_chr2_26781056_26799589	26784448	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp2 others(30): Show HG00140.hp2 HG00280.hp2 HG00323.hp2 HG01069.hp2 HG01074.hp2 HG01081.hp2 HG01123.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01884.hp1 HG01928.hp1 HG01934.hp1 HG02004.hp1 HG02145.hp2 HG02602.hp2 HG02698.hp1 HG02818.hp2 HG02886.hp1 HG03139.hp1 HG03834.hp2 HG03942.hp2 HG04204.hp2 HG04228.hp2 NA18939.hp1 NA18984.hp2 NA19012.hp2 NA19030.hp2 NA19076.hp1 NA19079.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0011 others(7): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0007g0003	33	382	0.0864	17	c.-17 others(28): Show c.-1749_-1748insTTTTTTTTTTTTTTTTT	CENPA	ENSG00000115163.15	transcript	ENST00000335756.9	protein_coding		1607		chr2	TogoVar
CENPE_chr4_103100811_103203343	103132960	T T	TTATATAT others(10): Show TTATATATAATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01884.hp1 HG02451.hp1 others(5): Show HG00735.hp1 HG01884.hp1 HG02451.hp1 HG02451.hp2 HG02886.hp1 HG03195.hp2 HG03579.hp1 NA19030.hp1	a0001 a0004 a0010 a0001 a0004 a0010	a0001c0007 a0004c0012 a0010c0014 a0001c0007 a0004c0012 a0010c0014	a0001c0007t0001 a0004c0012t0001 a0010c0014t0002 a0001c0007t0001 a0004c0012t0001 a0010c0014t0002	a0001c0007t0001g0091 a0001c0007t0001g0095 a0001c0007t0001g0097 others(5): Show a0001c0007t0001g0091 a0001c0007t0001g0095 a0001c0007t0001g0097 a0001c0007t0001g0098 a0001c0007t0001g0099 a0004c0012t0001g0096 a0010c0014t0002g0148 a0010c0014t0002g0149	8	320	0.0250	17	c.672 others(32): Show c.6721-65_6721-64insTATATATATTATATATA	CENPE	ENSG00000138778.14	transcript	ENST00000265148.9	protein_coding	41/48			chr4	TogoVar
CENPH_chr5_69184583_69215357	69200719	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19011.hp2 NA19005.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0218 a0001c0001t0001g0039 a0001c0001t0001g0218	2	388	0.0052	17	c.372 others(34): Show c.372-1769_372-1753dupTTTTTTTTTTTTTTTTT	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
CENPJ_chr13_24877279_24927861	24881915	C C	CATCTATA others(10): Show CATCTATATAGATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0044 a0001c0002t0001g0044	1	440	0.0023	17	c.12 others(28): Show c.1261_*1262insTATATATCTATATAGAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		363		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24924288	C C	CGATGTTA others(10): Show CGATGTTAAAATGTGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0236 a0001c0002t0007g0236	1	440	0.0023	17	c.-15 others(28): Show c.-1595_-1594insTCCCACATTTTAACATC	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		1428		chr13	TogoVar
CENPO_chr2_24788425_24827376	24817466	C C	CAGAAAAA others(10): Show CAGAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0254 a0001c0001t0009g0254	1	382	0.0026	17	c.767 others(32): Show c.767-203_767-202insGAAAAAAAAAAAAAAAA	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(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA18951.hp1 NA18994.hp1 HG02647.hp2 NA18951.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0034 a0001c0001t0003 a0001c0001t0011 a0001c0001t0034	a0001c0001t0003g0180 a0001c0001t0011g0233 a0001c0001t0034g0162 a0001c0001t0003g0180 a0001c0001t0011g0233 a0001c0001t0034g0162	3	260	0.0115	17	c.565 others(36): Show c.565-79286_565-79285insTTTTTTTTTTTTTTTTT	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92533322	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0164 a0001c0001t0014g0164	1	260	0.0039	17	c.565 others(36): Show c.565-77992_565-77991insTATATATATATATATAT	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7			chr9	TogoVar
CENPP_chr9_92320953_92625529	92533328	A A	AAAAAAAA others(10): Show AAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0114 a0001c0001t0013g0114	1	260	0.0039	17	c.565 others(36): Show c.565-77985_565-77984insAAAAAAATATATATATA	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(10): Show AAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0088 a0001c0001t0013g0088	1	260	0.0039	17	c.565 others(36): Show c.565-77985_565-77984insAAATATATATATATATA	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPQ_chr6_49458370_49498107	49487454	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01123.hp2 HG01243.hp2 others(11): Show HG00423.hp2 HG01123.hp2 HG01243.hp2 HG01517.hp2 HG02132.hp1 HG02145.hp1 HG02257.hp2 HG02698.hp2 HG03130.hp1 NA18940.hp1 NA18943.hp1 NA19060.hp2 NA19090.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0003c0003t0009	a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0115 others(11): Show a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0004g0094 a0001c0001t0004g0169 a0001c0001t0011g0111 a0003c0003t0009g0232	14	362	0.0387	17	c.478 others(32): Show c.478-884_478-883insAAAAAAAAAAAAAAAAA	CENPQ	ENSG00000031691.7	transcript	ENST00000335783.4	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP104_chr1_3807086_3862211	3844707	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA18974.hp2 HG01175.hp1 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0020 a0001c0001t0005 a0001c0001t0020	a0001c0001t0005g0302 a0001c0001t0020g0286 a0001c0001t0005g0302 a0001c0001t0020g0286	2	382	0.0052	17	c.566 others(32): Show c.566+199_566+200insCTTTTTTTTTTTTTTTT	CEP104	ENSG00000116198.14	transcript	ENST00000378230.8	protein_coding	6/21			chr1	TogoVar
CEP112_chr17_65630537_66197133	65870061	G G	GAAAGAAA others(10): Show GAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0085 a0001c0002t0001g0085	1	112	0.0089	17	c.216 others(38): Show c.2164-18044_2164-18028dupTCTTTCTTTCTTTCTTT	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	20/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	65870065	G G	GAAAGAAA others(10): Show GAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01081.hp2 HG01258.hp2 others(7): Show HG00438.hp1 HG01081.hp2 HG01258.hp2 HG01346.hp1 HG03492.hp1 HG03834.hp2 HG04199.hp1 NA18983.hp2 NA18986.hp2 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0001 a0003c0005 a0001c0002 a0002c0001 a0003c0005	a0001c0002t0001 a0002c0001t0001 a0002c0001t0004 others(2): Show a0001c0002t0001 a0002c0001t0001 a0002c0001t0004 a0002c0001t0008 a0003c0005t0001	a0001c0002t0001g0050 a0001c0002t0001g0057 a0001c0002t0001g0076 others(7): Show a0001c0002t0001g0050 a0001c0002t0001g0057 a0001c0002t0001g0076 a0001c0002t0001g0086 a0002c0001t0001g0025 a0002c0001t0001g0032 a0002c0001t0001g0043 a0002c0001t0004g0001 a0002c0001t0008g0040 a0003c0005t0001g0048	10	112	0.0893	17	c.216 others(38): Show c.2164-18048_2164-18032dupTCTTTCTTTCTTTCTTT	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	20/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	65920362	A A	ACAAACAA others(10): Show ACAAACAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0007 a0001c0003t0001g0007	1	112	0.0089	17	c.198 others(36): Show c.1980+7219_1980+7220insATTTTTTTTTTTGTTTG	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	19/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	65920405	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0009 a0001c0003t0001g0009	1	112	0.0089	17	c.198 others(36): Show c.1980+7176_1980+7177insATATATATATATATATA	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	19/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	66195025	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0111 a0002c0001t0002g0111	1	112	0.0089	17	c.-30 others(28): Show c.-3038_-3037insATTTTTTTTTTTTTTTT	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding		2893		chr17	TogoVar
CEP112_chr17_65630537_66197133	66195025	A A	AAAAATAT others(10): Show AAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0031 a0002c0001t0001g0031	1	112	0.0089	17	c.-30 others(28): Show c.-3038_-3037insATATATATATATATTTT	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding		2893		chr17	TogoVar
CEP126_chr11_101910010_102006062	102003215	T T	TATATATA others(10): Show TATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0010 a0003c0004t0010	a0003c0004t0010g0322 a0003c0004t0010g0322	1	336	0.0030	17	c.55 others(28): Show c.5572_*5573insATATATATATATATATA	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding		2154		chr11	TogoVar
CEP128_chr14_80491479_80946738	80678049	A A	AAAAATAT others(10): Show AAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0014 a0001c0001t0005g0014	1	164	0.0061	17	c.280 others(38): Show c.2806+65025_2806+65026insATATATATATATATTTT	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80729058	G G	GTGTGTGT others(10): Show GTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	164	0.0061	17	c.280 others(38): Show c.2806+14016_2806+14017insACACACACACACACACA	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80810323	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	164	0.0061	17	c.121 others(38): Show c.1210-17230_1210-17214dupTTTTTTTTTTTTTTTTT	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	13/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80935646	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02970.hp1 NA19043.hp2 HG02818.hp1 HG02970.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0052 a0001c0001t0005g0053 a0001c0001t0005g0058 a0001c0001t0005g0052 a0001c0001t0005g0053 a0001c0001t0005g0058	3	164	0.0183	17	c.-16 others(34): Show c.-16+3722_-16+3738dupTTTTTTTTTTTTTTTTT	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	2/24			chr14	TogoVar

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