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
CEP350_chr1_179949810_180119875	180090557	A A	AAAAAAAA others(5): Show AAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp1 HG00597.hp2 others(70): Show HG00323.hp2 HG00558.hp1 HG00597.hp2 HG00733.hp1 HG01069.hp2 HG01099.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02165.hp2 HG02280.hp1 HG02717.hp1 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG03239.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03654.hp2 HG03669.hp2 HG03834.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18612.hp2 NA18941.hp2 NA18946.hp2 NA18950.hp1 NA18953.hp1 NA18955.hp1 NA18971.hp1 NA18988.hp1 NA18990.hp2 NA18998.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp2 NA19012.hp2 NA19055.hp1 NA19062.hp1 NA19074.hp2 NA19078.hp2 NA19083.hp1 NA19084.hp2 NA20129.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0014 a0015 others(4): Show a0001 a0014 a0015 a0018 a0019 a0021 a0023	a0001c0001 a0001c0011 a0014c0026 others(5): Show a0001c0001 a0001c0011 a0014c0026 a0015c0024 a0018c0018 a0019c0017 a0021c0025 a0023c0030	a0001c0001t0001 a0001c0001t0012 a0001c0001t0014 others(9): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0011t0001 a0014c0026t0001 a0015c0024t0001 a0018c0018t0001 a0019c0017t0001 a0021c0025t0013 a0023c0030t0001	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 others(70): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0146 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0241 a0001c0001t0012g0195 a0001c0001t0014g0206 a0001c0001t0017g0208 a0001c0001t0018g0177 a0001c0011t0001g0149 a0001c0011t0001g0158 a0014c0026t0001g0183 a0015c0024t0001g0155 a0018c0018t0001g0039 a0019c0017t0001g0162 a0021c0025t0013g0180 a0023c0030t0001g0218	73	248	0.2944	12	c.642 others(29): Show c.6426-146_6426-145insGAAAAAAAAAAA	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	32/37		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP350_chr1_179949810_180119875	180090558	A A	AAAAAAAA others(5): Show AAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	248	0.0040	12	c.642 others(29): Show c.6426-145_6426-144insGAAAAAAAAAAA	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	32/37		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP41_chr7_130388771_130446016	130392347	G G	GACACACA others(5): Show GACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG03471.hp1 HG03490.hp1 others(5): Show HG00735.hp1 HG03471.hp1 HG03490.hp1 HG03492.hp2 HG03704.hp1 NA18990.hp2 NA19065.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0021 a0001c0001t0037 a0001c0001t0085	a0001c0001t0001g0001 a0001c0001t0002g0138 a0001c0001t0003g0158 others(5): Show a0001c0001t0001g0001 a0001c0001t0002g0138 a0001c0001t0003g0158 a0001c0001t0006g0101 a0001c0001t0021g0216 a0001c0001t0037g0300 a0001c0001t0037g0301 a0001c0001t0085g0235	8	346	0.0231	12	c.65 others(23): Show c.6543_*6544insGTGTGTGTGTGT	CEP41	ENSG00000106477.20	transcript	ENST00000223208.10	protein_coding		1423		chr7	TogoVar
CEP41_chr7_130388771_130446016	130392391	C C	CACACACA others(5): Show CACACACACACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0018 a0001c0001t0004g0018	1	346	0.0029	12	c.64 others(23): Show c.6499_*6500insTTGTGTGTGTGT	CEP41	ENSG00000106477.20	transcript	ENST00000223208.10	protein_coding		1379		chr7	TogoVar
CEP43_chr6_166994397_167057718	167022259	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01361.hp1 NA18906.hp1 others(3): Show HG00621.hp2 HG01361.hp1 NA18906.hp1 NA18950.hp1 NA18993.hp1 NA19056.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0005 a0002c0002 a0005c0005	a0002c0002t0015 a0002c0002t0035 a0002c0002t0036 others(3): Show a0002c0002t0015 a0002c0002t0035 a0002c0002t0036 a0002c0002t0093 a0002c0002t0102 a0005c0005t0074	a0002c0002t0015g0038 a0002c0002t0035g0200 a0002c0002t0036g0202 others(3): Show a0002c0002t0015g0038 a0002c0002t0035g0200 a0002c0002t0036g0202 a0002c0002t0093g0201 a0002c0002t0102g0038 a0005c0005t0074g0212	6	376	0.0160	12	c.580 others(27): Show c.580-124_580-113dupCACACACACACA	CEP43	ENSG00000213066.14	transcript	ENST00000366847.9	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP43_chr6_166994397_167057718	167042814	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00597.hp2 HG03490.hp2 HG00597.hp2 HG03490.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0126 a0006c0007t0090 a0001c0001t0126 a0006c0007t0090	a0001c0001t0126g0054 a0006c0007t0090g0198 a0001c0001t0126g0054 a0006c0007t0090g0198	2	376	0.0053	12	c.28 others(23): Show c.2850_*2861dupGTGTGTGTGTGT	CEP43	ENSG00000213066.14	transcript	ENST00000366847.9	protein_coding	13/13	2862	INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP44_chr4_174278911_174325328	174291782	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0090 a0002c0002t0013g0090	1	388	0.0026	12	c.-14 others(31): Show c.-147-6180_-147-6179insTTTTTTTTTTTT	CEP44	ENSG00000164118.13	transcript	ENST00000503780.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
CEP55_chr10_93491612_93534092	93509468	C C	CATTATTA others(5): Show CATTATTATTATT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03130.hp2 HG03195.hp2 others(1): Show HG02970.hp2 HG03130.hp2 HG03195.hp2 NA18906.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0003c0003 a0007c0007 a0001c0001 a0003c0003 a0007c0007	a0001c0001t0001 a0003c0003t0008 a0007c0007t0003 a0001c0001t0001 a0003c0003t0008 a0007c0007t0003	a0001c0001t0001g0208 a0001c0001t0001g0209 a0003c0003t0008g0207 others(1): Show a0001c0001t0001g0208 a0001c0001t0001g0209 a0003c0003t0008g0207 a0007c0007t0003g0206	4	386	0.0104	12	c.528 others(29): Show c.528+2434_528+2445dupATTATTATTATT	CEP55	ENSG00000138180.16	transcript	ENST00000371485.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
CEP57L1_chr6_109090507_109179418	109174109	A A	AAAAAAAA others(5): Show AAAAAAAAAAAAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0033 a0003c0005t0033	a0003c0005t0033g0004 a0003c0005t0033g0004	1	228	0.0044	12	c.11 others(25): Show c.11144_*11145insAAAAAACAAAAA	CEP57L1	ENSG00000183137.16	transcript	ENST00000517392.6	protein_coding	11/11	11145	INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP57L1_chr6_109090507_109179418	109177637	A A	AATATATA others(5): Show AATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG01081.hp1 HG01106.hp1 others(13): Show HG00558.hp1 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG02258.hp2 HG02572.hp1 HG02723.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 NA19084.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0027 a0001c0001t0063 a0003c0005t0032	a0001c0001t0001g0051 a0001c0001t0001g0064 a0001c0001t0001g0097 others(13): Show a0001c0001t0001g0051 a0001c0001t0001g0064 a0001c0001t0001g0097 a0001c0001t0001g0146 a0001c0001t0001g0199 a0001c0001t0004g0105 a0001c0001t0006g0166 a0001c0001t0007g0144 a0001c0001t0007g0207 a0001c0001t0009g0150 a0001c0001t0011g0131 a0001c0001t0011g0177 a0001c0001t0012g0219 a0001c0001t0027g0217 a0001c0001t0063g0151 a0003c0005t0032g0004	16	228	0.0702	12	c.14 others(25): Show c.14667_*14668insATATATATATAT	CEP57L1	ENSG00000183137.16	transcript	ENST00000517392.6	protein_coding		3220		chr6	TogoVar
CEP57L1_chr6_109090507_109179418	109177675	T T	TATATATA others(5): Show TATATATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG01123.hp2 HG01175.hp1 others(3): Show HG00438.hp2 HG01123.hp2 HG01175.hp1 HG01433.hp2 HG01952.hp2 HG03834.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0066 a0002c0002t0073 others(1): Show a0002c0002t0003 a0002c0002t0066 a0002c0002t0073 a0002c0002t0076	a0002c0002t0003g0001 a0002c0002t0003g0014 a0002c0002t0003g0029 others(3): Show a0002c0002t0003g0001 a0002c0002t0003g0014 a0002c0002t0003g0029 a0002c0002t0066g0022 a0002c0002t0073g0001 a0002c0002t0076g0010	6	228	0.0263	12	c.14 others(25): Show c.14705_*14706insATATATATATAA	CEP57L1	ENSG00000183137.16	transcript	ENST00000517392.6	protein_coding		3258		chr6	TogoVar
CEP63_chr3_134481057_134570031	134494092	A A	ATATTTAT others(5): Show ATATTTATTTATT	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	322	0.0031	12	c.-25 others(29): Show c.-25-1174_-25-1163dupATTTATTTATTT	CEP63	ENSG00000182923.20	transcript	ENST00000675561.1	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
CEP63_chr3_134481057_134570031	134528569	C C	CGTGTGTG others(5): Show CGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01496.hp2 HG02280.hp1 others(10): Show HG01081.hp2 HG01496.hp2 HG02280.hp1 HG02647.hp2 HG03486.hp2 HG03516.hp2 HG04115.hp2 NA18974.hp1 NA18986.hp1 NA19012.hp2 NA19056.hp2 NA19067.hp1 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0009 a0002c0002t0001 a0001c0001t0001 a0001c0001t0009 a0002c0002t0001	a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 others(10): Show a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0300 a0001c0001t0009g0100 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0261 a0002c0002t0001g0279 a0002c0002t0001g0281 a0002c0002t0001g0284 a0002c0002t0001g0285	13	322	0.0404	12	c.223 others(29): Show c.223-3262_223-3251dupTGTGTGTGTGTG	CEP63	ENSG00000182923.20	transcript	ENST00000675561.1	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
CEP63_chr3_134481057_134570031	134557376	G G	GTTTTTTT others(5): Show GTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02809.hp1 HG02895.hp2 others(8): Show HG02622.hp2 HG02809.hp1 HG02895.hp2 HG02897.hp2 HG03041.hp1 HG03195.hp1 HG03579.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0029 a0001c0003t0001 a0001c0001t0001 a0001c0001t0029 a0001c0003t0001	a0001c0001t0001g0137 a0001c0001t0001g0148 a0001c0001t0001g0149 others(7): Show a0001c0001t0001g0137 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0211 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0029g0136 a0001c0003t0001g0006 a0001c0003t0001g0140 a0001c0003t0001g0153	11	322	0.0342	12	c.146 others(29): Show c.1468-749_1468-738dupTTTTTTTTTTTT	CEP63	ENSG00000182923.20	transcript	ENST00000675561.1	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
CEP68_chr2_65051416_65092004	65057019	C C	CGCTGTGG others(5): Show CGCTGTGGATGCA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0004 a0004	a0004c0028 a0004c0028	a0004c0028t0023 a0004c0028t0023	a0004c0028t0023g0155 a0004c0028t0023g0155	1	360	0.0028	12	c.-47 others(27): Show c.-47+493_-47+494insTGTGGATGCAGC	CEP68	ENSG00000011523.15	transcript	ENST00000377990.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CEP68_chr2_65051416_65092004	65057022	C C	CGTGGATG others(5): Show CGTGGATGCAGCA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00423.hp2 others(186): Show HG00140.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01952.hp2 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02145.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18946.hp1 NA18948.hp2 NA18950.hp1 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18960.hp2 NA18961.hp2 NA18963.hp2 NA18964.hp2 NA18966.hp2 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp2 NA18997.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19010.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp2 NA19058.hp2 NA19063.hp1 NA19064.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19076.hp2 NA19078.hp1 NA19079.hp2 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19087.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0010 a0011 a0012 a0013 a0015 a0016 a0018 a0020	a0001c0001 a0001c0006 a0001c0026 others(22): Show a0001c0001 a0001c0006 a0001c0026 a0001c0030 a0002c0002 a0002c0010 a0002c0033 a0003c0003 a0003c0018 a0004c0004 a0004c0011 a0004c0016 a0004c0027 a0005c0005 a0005c0029 a0006c0008 a0007c0007 a0010c0015 a0011c0032 a0012c0034 a0013c0024 a0015c0021 a0016c0025 a0018c0019 a0020c0017	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(43): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0024 a0001c0006t0006 a0001c0006t0025 a0001c0026t0001 a0001c0030t0036 a0002c0002t0002 a0002c0002t0026 a0002c0010t0002 a0002c0033t0002 a0003c0003t0001 a0003c0003t0003 a0003c0003t0015 a0003c0003t0028 a0003c0003t0029 a0003c0003t0030 a0003c0003t0031 a0003c0003t0032 a0003c0018t0006 a0004c0004t0004 a0004c0004t0011 a0004c0004t0018 a0004c0004t0019 a0004c0011t0013 a0004c0011t0027 a0004c0016t0012 a0004c0027t0012 a0005c0005t0001 a0005c0005t0005 a0005c0005t0014 a0005c0005t0021 a0005c0005t0022 a0005c0029t0005 a0006c0008t0001 a0006c0008t0009 a0007c0007t0003 a0010c0015t0013 a0011c0032t0002 a0012c0034t0002 a0013c0024t0005 a0015c0021t0012 a0016c0025t0006 a0018c0019t0006 a0020c0017t0003	a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0142 others(137): Show a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0142 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0005g0132 a0001c0001t0005g0133 a0001c0001t0007g0013 a0001c0001t0007g0014 a0001c0001t0007g0143 a0001c0001t0007g0144 a0001c0001t0007g0145 a0001c0001t0024g0069 a0001c0006t0006g0113 a0001c0006t0006g0114 a0001c0006t0006g0119 a0001c0006t0006g0121 a0001c0006t0006g0122 a0001c0006t0006g0124 a0001c0006t0025g0128 a0001c0026t0001g0146 a0001c0030t0036g0062 a0002c0002t0002g0001 a0002c0002t0002g0003 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0091 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0112 a0002c0002t0002g0246 a0002c0002t0026g0001 a0002c0010t0002g0022 a0002c0010t0002g0088 a0002c0010t0002g0089 a0002c0010t0002g0092 a0002c0033t0002g0003 a0003c0003t0001g0125 a0003c0003t0003g0004 a0003c0003t0003g0011 a0003c0003t0003g0025 a0003c0003t0003g0026 a0003c0003t0003g0027 a0003c0003t0003g0028 a0003c0003t0003g0033 a0003c0003t0003g0100 a0003c0003t0003g0101 a0003c0003t0003g0102 a0003c0003t0003g0103 a0003c0003t0003g0104 a0003c0003t0003g0105 a0003c0003t0003g0106 a0003c0003t0003g0107 a0003c0003t0003g0108 a0003c0003t0003g0109 a0003c0003t0003g0110 a0003c0003t0003g0123 a0003c0003t0003g0126 a0003c0003t0003g0127 a0003c0003t0003g0129 a0003c0003t0003g0130 a0003c0003t0015g0004 a0003c0003t0028g0111 a0003c0003t0029g0154 a0003c0003t0030g0004 a0003c0003t0031g0033 a0003c0003t0032g0011 a0003c0018t0006g0115 a0004c0004t0004g0006 a0004c0004t0004g0019 a0004c0004t0004g0020 a0004c0004t0004g0051 a0004c0004t0004g0052 a0004c0004t0004g0053 a0004c0004t0004g0054 a0004c0004t0004g0055 a0004c0004t0004g0057 a0004c0004t0004g0058 a0004c0004t0004g0059 a0004c0004t0004g0060 a0004c0004t0004g0063 a0004c0004t0011g0006 a0004c0004t0018g0056 a0004c0004t0019g0061 a0004c0011t0013g0064 a0004c0011t0013g0065 a0004c0011t0027g0150 a0004c0016t0012g0151 a0004c0016t0012g0152 a0004c0027t0012g0153 a0005c0005t0001g0137 a0005c0005t0001g0139 a0005c0005t0005g0012 a0005c0005t0005g0030 a0005c0005t0005g0032 a0005c0005t0005g0134 a0005c0005t0005g0136 a0005c0005t0005g0138 a0005c0005t0005g0141 a0005c0005t0014g0031 a0005c0005t0014g0140 a0005c0005t0021g0135 a0005c0005t0022g0244 a0005c0029t0005g0068 a0006c0008t0001g0247 a0006c0008t0009g0029 a0006c0008t0009g0117 a0006c0008t0009g0120 a0007c0007t0003g0024 a0007c0007t0003g0096 a0007c0007t0003g0097 a0007c0007t0003g0098 a0010c0015t0013g0066 a0010c0015t0013g0067 a0011c0032t0002g0001 a0012c0034t0002g0090 a0013c0024t0005g0131 a0015c0021t0012g0048 a0016c0025t0006g0116 a0018c0019t0006g0118 a0020c0017t0003g0099	189	360	0.5250	12	c.-47 others(27): Show c.-47+495_-47+496insTGGATGCAGCAG	CEP68	ENSG00000011523.15	transcript	ENST00000377990.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CEP68_chr2_65051416_65092004	65066745	A A	AAAAAATA others(5): Show AAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0014 a0005c0005t0014	a0005c0005t0014g0140 a0005c0005t0014g0140	1	360	0.0028	12	c.-46 others(29): Show c.-46-2653_-46-2652insAAAATATATATA	CEP68	ENSG00000011523.15	transcript	ENST00000377990.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CEP68_chr2_65051416_65092004	65089702	A A	ATTTTTTT others(5): Show ATTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp1 NA18950.hp1 NA18975.hp2 others(4): Show NA18946.hp1 NA18950.hp1 NA18975.hp2 NA18982.hp1 NA18992.hp2 NA19072.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0024 a0002c0002t0002 a0001c0001t0024 a0002c0002t0002	a0001c0001t0024g0069 a0002c0002t0002g0001 a0002c0002t0002g0003 others(4): Show a0001c0001t0024g0069 a0002c0002t0002g0001 a0002c0002t0002g0003 a0002c0002t0002g0023 a0002c0002t0002g0081 a0002c0002t0002g0083 a0002c0002t0002g0085	7	360	0.0194	12	c.60 others(23): Show c.6068_*6069insTTTTTTTTTTTT	CEP68	ENSG00000011523.15	transcript	ENST00000377990.7	protein_coding		2699		chr2	TogoVar
CEP70_chr3_138489344_138599260	138499783	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0240 a0002c0002t0002g0240	1	318	0.0031	12	c.165 others(29): Show c.1652+315_1652+326dupGTGTGTGTGTGT	CEP70	ENSG00000114107.9	transcript	ENST00000264982.8	protein_coding	16/17			chr3	TogoVar
CEP70_chr3_138489344_138599260	138544509	G G	GTGTATGT others(5): Show GTGTATGTATGTA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02897.hp2 HG02818.hp2 HG02897.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0094 a0003c0003t0003g0095 a0003c0003t0003g0094 a0003c0003t0003g0095	2	318	0.0063	12	c.466 others(29): Show c.466-7174_466-7163dupTACATACATACA	CEP70	ENSG00000114107.9	transcript	ENST00000264982.8	protein_coding	6/17			chr3	TogoVar
CEP72_chr5_607340_658553	648618	G G	GACTGTGA others(5): Show GACTGTGAGGTGT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0086 a0002c0002t0001g0086	1	91	0.0110	12	c.177 others(29): Show c.1778+702_1778+703insACTGTGAGGTGT	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11			chr5	TogoVar
CEP72_chr5_607340_658553	650202	G G	GACTGTGA others(5): Show GACTGTGAGGCGT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01433.hp1 HG02602.hp1 others(3): Show HG01175.hp1 HG01433.hp1 HG02602.hp1 HG03491.hp2 HG03834.hp2 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0079 others(3): Show a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0079 a0002c0002t0001g0083 a0002c0002t0001g0086 a0002c0002t0001g0088	6	91	0.0659	12	c.177 others(31): Show c.1778+2286_1778+2287insACTGTGAGGCGT	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11			chr5	TogoVar
CEP72_chr5_607340_658553	650366	C C	CTGAGGCG others(5): Show CTGAGGCGTGGAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01069.hp2 HG00735.hp1 HG01069.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0078 a0002c0002t0001g0085 a0002c0002t0001g0078 a0002c0002t0001g0085	2	91	0.0220	12	c.177 others(31): Show c.1778+2452_1778+2453insAGGCGTGGATTG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP72_chr5_607340_658553	650603	C C	CTGAGGCG others(5): Show CTGAGGCGTGGAT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20905.hp1 NA20752.hp2 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0075 a0002c0002t0001g0087 a0002c0002t0001g0075 a0002c0002t0001g0087	2	91	0.0220	12	c.177 others(31): Show c.1779-2383_1779-2382insAGGCGTGGATTG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP72_chr5_607340_658553	650734	G G	GACTGTGA others(5): Show GACTGTGAGGTGT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA19065.hp1 NA18971.hp1 NA19065.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0002 a0004c0004t0003g0002	2	91	0.0220	12	c.177 others(31): Show c.1779-2254_1779-2253insACTGTGAGGTGT	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11			chr5	TogoVar
CEP72_chr5_607340_658553	650911	G G	GACTGTGA others(5): Show GACTGTGAGGTGT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01433.hp1 HG02015.hp1 others(2): Show HG01175.hp1 HG01433.hp1 HG02015.hp1 NA20752.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0004 a0002c0002t0001g0075 a0002c0002t0001g0083 others(2): Show a0001c0001t0001g0004 a0002c0002t0001g0075 a0002c0002t0001g0083 a0002c0002t0001g0086 a0002c0002t0001g0087	5	91	0.0550	12	c.177 others(31): Show c.1779-2077_1779-2076insACTGTGAGGTGT	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11			chr5	TogoVar
CEP76_chr18_12667625_12707723	12683186	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	380	0.0026	12	c.112 others(31): Show c.1123-2370_1123-2359dupTTTTTTTTTTTT	CEP76	ENSG00000101624.11	transcript	ENST00000262127.7	protein_coding	8/11			chr18	TogoVar
CEP76_chr18_12667625_12707723	12705570	A A	AGTGTGTG others(5): Show AGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02559.hp1 HG03453.hp1 others(1): Show HG02258.hp1 HG02559.hp1 HG03453.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0201 a0001c0001t0002g0250 a0001c0001t0002g0253 others(1): Show a0001c0001t0002g0201 a0001c0001t0002g0250 a0001c0001t0002g0253 a0001c0001t0002g0254	4	380	0.0105	12	c.-30 others(23): Show c.-3023_-3022insACACACACACAC	CEP76	ENSG00000101624.11	transcript	ENST00000262127.7	protein_coding		2848		chr18	TogoVar
CEP76_chr18_12667625_12707723	12705572	A A	AGTGTGTG others(5): Show AGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	380	0.0026	12	c.-30 others(23): Show c.-3025_-3024insACACACACACAC	CEP76	ENSG00000101624.11	transcript	ENST00000262127.7	protein_coding		2850		chr18	TogoVar
CEP76_chr18_12667625_12707723	12705574	A A	AGTGTGTG others(5): Show AGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG02080.hp2 NA18977.hp2 HG01099.hp2 HG02080.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0237 a0001c0001t0002g0038 a0001c0001t0002g0237	3	380	0.0079	12	c.-30 others(23): Show c.-3027_-3026insACACACACACAC	CEP76	ENSG00000101624.11	transcript	ENST00000262127.7	protein_coding		2852		chr18	TogoVar
CEP76_chr18_12667625_12707723	12705576	A A	AGTGTGTG others(5): Show AGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02258.hp2 HG03471.hp1 HG02109.hp1 HG02258.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	3	380	0.0079	12	c.-30 others(23): Show c.-3040_-3029dupACACACACACAC	CEP76	ENSG00000101624.11	transcript	ENST00000262127.7	protein_coding		2854		chr18	TogoVar
CEP83_chr12_94302698_94464867	94331289	G G	GAAAAAAA others(5): Show GAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01255.hp2 HG01346.hp2 others(10): Show HG00423.hp2 HG01255.hp2 HG01346.hp2 HG01978.hp2 HG01981.hp1 HG02300.hp1 HG03041.hp1 NA18948.hp1 NA18955.hp2 NA18961.hp1 NA18974.hp1 NA19081.hp1 NA19090.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0009 a0001c0001 a0008c0009	a0001c0001t0001 a0001c0001t0004 a0008c0009t0004 a0001c0001t0001 a0001c0001t0004 a0008c0009t0004	a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0018 others(10): Show a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0071 a0001c0001t0004g0327 a0001c0001t0004g0331 a0001c0001t0004g0333 a0001c0001t0004g0334 a0008c0009t0004g0332	13	364	0.0357	12	c.170 others(29): Show c.1707+399_1707+410dupTTTTTTTTTTTT	CEP83	ENSG00000173588.16	transcript	ENST00000397809.10	protein_coding	14/16			chr12	TogoVar
CEP83_chr12_94302698_94464867	94331302	A A	AAAAAAAA others(5): Show AAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp2 HG01243.hp1 others(5): Show HG00642.hp1 HG00735.hp2 HG01243.hp1 HG02145.hp1 HG02257.hp1 HG02809.hp1 HG02809.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0006t0001 a0001c0001t0001 a0001c0001t0003 a0001c0006t0001	a0001c0001t0001g0011 a0001c0001t0001g0027 a0001c0001t0001g0102 others(5): Show a0001c0001t0001g0011 a0001c0001t0001g0027 a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0003g0343 a0001c0001t0003g0345 a0001c0001t0003g0352 a0001c0006t0001g0107	8	364	0.0220	12	c.170 others(29): Show c.1707+397_1707+398insCTTTTTTTTTTT	CEP83	ENSG00000173588.16	transcript	ENST00000397809.10	protein_coding	14/16			chr12	TogoVar
CEP83_chr12_94302698_94464867	94343470	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03098.hp2 HG03041.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0028 a0001c0006t0001g0111 a0001c0001t0001g0028 a0001c0006t0001g0111	2	364	0.0055	12	c.134 others(31): Show c.1344-7818_1344-7807dupAAAAAAAAAAAA	CEP83	ENSG00000173588.16	transcript	ENST00000397809.10	protein_coding	11/16			chr12	TogoVar
CEP83_chr12_94302698_94464867	94344222	A A	AAAGCTTT others(5): Show AAAGCTTTGGCAG	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0280 a0002c0002t0001g0280	1	364	0.0028	12	c.134 others(31): Show c.1344-8559_1344-8558insCTGCCAAAGCTT	CEP83	ENSG00000173588.16	transcript	ENST00000397809.10	protein_coding	11/16			chr12	TogoVar
CEP83_chr12_94302698_94464867	94347050	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01255.hp2 HG01346.hp2 others(22): Show HG00140.hp1 HG01255.hp2 HG01346.hp2 HG01496.hp2 HG01981.hp1 HG02071.hp2 HG02109.hp2 HG02717.hp1 HG03471.hp2 HG03654.hp2 NA18612.hp1 NA18942.hp2 NA18947.hp2 NA18948.hp1 NA18955.hp2 NA18960.hp1 NA18961.hp1 NA18967.hp1 NA18968.hp2 NA18974.hp1 NA18980.hp1 NA19081.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1	a0001 a0005 a0008 a0001 a0005 a0008	a0001c0001 a0001c0011 a0005c0008 others(1): Show a0001c0001 a0001c0011 a0005c0008 a0008c0009	a0001c0001t0001 a0001c0001t0004 a0001c0011t0001 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0011t0001 a0005c0008t0008 a0008c0009t0004	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 others(22): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0168 a0001c0001t0001g0242 a0001c0001t0001g0254 a0001c0001t0001g0259 a0001c0001t0004g0327 a0001c0001t0004g0330 a0001c0001t0004g0331 a0001c0001t0004g0333 a0001c0001t0004g0334 a0001c0011t0001g0244 a0005c0008t0008g0034 a0005c0008t0008g0035 a0008c0009t0004g0332	25	364	0.0687	12	c.134 others(33): Show c.1344-11398_1344-11387dupATATATATATAT	CEP83	ENSG00000173588.16	transcript	ENST00000397809.10	protein_coding	11/16			chr12	TogoVar
CEP83_chr12_94302698_94464867	94347063	A A	ATATATAT others(5): Show ATATATATATATG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	364	0.0028	12	c.134 others(33): Show c.1344-11400_1344-11399insCATATATATATA	CEP83	ENSG00000173588.16	transcript	ENST00000397809.10	protein_coding	11/16			chr12	TogoVar
CEP83_chr12_94302698_94464867	94347068	T T	TATATATA others(5): Show TATATATATATAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00738.hp2 HG00423.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0224 a0001c0001t0001g0022 a0001c0001t0001g0224	2	364	0.0055	12	c.134 others(33): Show c.1344-11405_1344-11404insGTATATATATAT	CEP83	ENSG00000173588.16	transcript	ENST00000397809.10	protein_coding	11/16			chr12	TogoVar
CEP83_chr12_94302698_94464867	94376690	T T	TATACACA others(5): Show TATACACACACAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG02074.hp1 others(8): Show HG01069.hp1 HG01071.hp1 HG02074.hp1 HG03688.hp1 NA18954.hp1 NA18957.hp1 NA18959.hp2 NA18973.hp1 NA18979.hp2 NA19002.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0146 a0001c0001t0001g0158 others(8): Show a0001c0001t0001g0138 a0001c0001t0001g0146 a0001c0001t0001g0158 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0228	11	364	0.0302	12	c.802 others(27): Show c.802-674_802-673insGTGTGTGTGTAT	CEP83	ENSG00000173588.16	transcript	ENST00000397809.10	protein_coding	7/16			chr12	TogoVar
CEP85L_chr6_118455772_118656591	118460150	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01981.hp2 HG03139.hp1 others(3): Show HG01261.hp2 HG01981.hp2 HG03139.hp1 HG03225.hp1 HG03942.hp2 HG04199.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0041 a0004c0004t0006g0042 a0004c0004t0006g0043 others(3): Show a0004c0004t0006g0041 a0004c0004t0006g0042 a0004c0004t0006g0043 a0004c0004t0006g0044 a0004c0004t0006g0045 a0004c0004t0006g0046	6	302	0.0199	12	c.52 others(23): Show c.5254_*5255insTTTTTTTTTTTT	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding		621		chr6	TogoVar
CEP85L_chr6_118455772_118656591	118519432	C C	CTGTGTGT others(5): Show CTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	302	0.0033	12	c.113 others(31): Show c.1139+4358_1139+4369dupCACACACACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	4/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118519474	G G	GTGTGTGT others(5): Show GTGTGTGTGTGGC	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA18942.hp2 NA18944.hp1 others(1): Show HG02135.hp2 NA18942.hp2 NA18944.hp1 NA19005.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0200 a0002c0002t0002g0206 a0002c0002t0002g0208 others(1): Show a0002c0002t0002g0200 a0002c0002t0002g0206 a0002c0002t0002g0208 a0002c0002t0002g0220	4	302	0.0133	12	c.113 others(31): Show c.1139+4327_1139+4328insGCCACACACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	4/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118542900	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0225 a0002c0002t0002g0225	1	302	0.0033	12	c.102 others(33): Show c.1021-18992_1021-18981dupTTTTTTTTTTTT	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	3/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118558626	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0259 a0002c0002t0002g0259	1	302	0.0033	12	c.102 others(31): Show c.1020+6891_1020+6902dupGTGTGTGTGTGT	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	3/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118558652	C C	CAGAGAGA others(5): Show CAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0008 a0005c0005t0008	a0005c0005t0008g0296 a0005c0005t0008g0296	1	302	0.0033	12	c.102 others(31): Show c.1020+6876_1020+6877insCTCTCTCTCTCT	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	3/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118567249	G G	GTGTATAT others(5): Show GTGTATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0072 a0001c0001t0004g0072	1	302	0.0033	12	c.233 others(27): Show c.233-934_233-933insTATATATATACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118569341	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0025 a0002c0002t0025	a0002c0002t0025g0282 a0002c0002t0025g0282	1	302	0.0033	12	c.233 others(29): Show c.233-3037_233-3026dupTTTTTTTTTTTT	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118600294	C C	CTGGGGGG others(5): Show CTGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03209.hp1 HG04184.hp1 others(1): Show HG01496.hp1 HG03209.hp1 HG04184.hp1 NA19084.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0204 a0002c0002t0002g0211 a0002c0002t0002g0221 others(1): Show a0002c0002t0002g0204 a0002c0002t0002g0211 a0002c0002t0002g0221 a0002c0002t0002g0278	4	302	0.0133	12	c.232 others(31): Show c.232+32158_232+32159insCCCCCCCCCCCA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118614849	T T	TAGACAGA others(5): Show TAGACAGACAGAC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02074.hp2 HG02622.hp1 others(8): Show HG01515.hp2 HG02074.hp2 HG02622.hp1 HG02698.hp1 HG03471.hp2 HG03834.hp1 HG04184.hp1 HG04199.hp1 NA19240.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0005 a0002c0002t0030 a0002c0002t0002 a0002c0002t0005 a0002c0002t0030	a0002c0002t0002g0173 a0002c0002t0002g0188 a0002c0002t0002g0202 others(8): Show a0002c0002t0002g0173 a0002c0002t0002g0188 a0002c0002t0002g0202 a0002c0002t0002g0203 a0002c0002t0002g0204 a0002c0002t0002g0234 a0002c0002t0002g0238 a0002c0002t0002g0259 a0002c0002t0005g0283 a0002c0002t0005g0285 a0002c0002t0030g0182	11	302	0.0364	12	c.232 others(31): Show c.232+17592_232+17603dupGTCTGTCTGTCT	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85_chr1_26229200_26283808	26231666	C C	CTGTGTGT others(5): Show CTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG02896.hp1 others(3): Show HG00140.hp2 HG00323.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 NA19030.hp2	a0003 a0003	a0003c0003 a0003c0005 a0003c0003 a0003c0005	a0003c0003t0004 a0003c0005t0004 a0003c0003t0004 a0003c0005t0004	a0003c0003t0004g0300 a0003c0003t0004g0301 a0003c0003t0004g0302 others(3): Show a0003c0003t0004g0300 a0003c0003t0004g0301 a0003c0003t0004g0302 a0003c0003t0004g0311 a0003c0003t0004g0313 a0003c0005t0004g0323	6	342	0.0175	12	c.-26 others(23): Show c.-2667_-2666insTGTGTGTGTGTG	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding		2533		chr1	TogoVar

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