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
CEP112_chr17_65630537_66197133	65654056	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0091 a0001c0002t0001g0091	1	112	0.0089	22	c.269 others(43): Show c.2698-13013_2698-12992dupTTTTTTTTTTTTTTTTTTTTTT	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	24/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	65870069	G G	GAAAGAAA others(15): Show GAAAGAAAGAAAGAAAGAAAAGA	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0051 a0001c0002t0001g0051	1	112	0.0089	22	c.216 others(43): Show c.2164-18036_2164-18035insTCTTTTCTTTCTTTCTTTCTTT	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	20/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	65920362	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp2 NA18985.hp1 HG01891.hp2 HG02145.hp2 NA18985.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0001 a0002c0001t0001 a0001c0003t0001 a0002c0001t0001	a0001c0003t0001g0005 a0002c0001t0001g0049 a0002c0001t0001g0064 a0001c0003t0001g0005 a0002c0001t0001g0049 a0002c0001t0001g0064	3	112	0.0268	22	c.198 others(41): Show c.1980+7198_1980+7219dupATATATATATATATATATATAT	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	19/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	66009189	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0007 a0001c0003t0001g0007	1	112	0.0089	22	c.165 others(41): Show c.1657-3442_1657-3421dupCACACACACACACACACACACA	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	16/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	66034970	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02572.hp1 HG03017.hp2 HG01517.hp1 HG02572.hp1 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0054 a0001c0002t0001g0061 a0001c0002t0001g0089 a0001c0002t0001g0054 a0001c0002t0001g0061 a0001c0002t0001g0089	3	112	0.0268	22	c.121 others(41): Show c.1219-4948_1219-4947insCACACACACACACACACACACA	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	12/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	66034976	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01258.hp1 NA19056.hp1 HG00735.hp1 HG01258.hp1 NA19056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0053 a0001c0002t0001g0090 a0001c0002t0001g0014 a0001c0002t0001g0053 a0001c0002t0001g0090	3	112	0.0268	22	c.121 others(41): Show c.1219-4954_1219-4953insTACACACACACACACACACACA	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	12/26			chr17	TogoVar
CEP126_chr11_101910010_102006062	101938159	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0271 a0001c0001t0002g0271	1	336	0.0030	22	c.249 others(39): Show c.249-6089_249-6088insAAAAAAAAAAAAAAAAAAAAAA	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	102003186	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02886.hp2 HG03688.hp2 others(3): Show HG02257.hp1 HG02886.hp2 HG03688.hp2 HG03704.hp1 NA18969.hp1 NA19085.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0005 a0001c0001 a0002c0003 a0004c0005	a0001c0001t0032 a0002c0003t0003 a0002c0003t0007 others(1): Show a0001c0001t0032 a0002c0003t0003 a0002c0003t0007 a0004c0005t0005	a0001c0001t0032g0142 a0002c0003t0003g0039 a0002c0003t0003g0067 others(3): Show a0001c0001t0032g0142 a0002c0003t0003g0039 a0002c0003t0003g0067 a0002c0003t0003g0069 a0002c0003t0007g0074 a0004c0005t0005g0325	6	336	0.0179	22	c.55 others(33): Show c.5543_*5544insTATATATATATATATATATATA	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding		2125		chr11	TogoVar
CEP128_chr14_80491479_80946738	80561896	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01192.hp1 HG02559.hp1 others(1): Show HG01123.hp2 HG01192.hp1 HG02559.hp1 HG02615.hp2	a0002 a0004 a0006 a0002 a0004 a0006	a0002c0002 a0004c0004 a0006c0007 a0002c0002 a0004c0004 a0006c0007	a0002c0002t0004 a0004c0004t0003 a0006c0007t0004 a0002c0002t0004 a0004c0004t0003 a0006c0007t0004	a0002c0002t0004g0070 a0002c0002t0004g0072 a0004c0004t0003g0140 others(1): Show a0002c0002t0004g0070 a0002c0002t0004g0072 a0004c0004t0003g0140 a0006c0007t0004g0147	4	164	0.0244	22	c.285 others(41): Show c.2857-2595_2857-2594insTATATATATATATATATATATA	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	20/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80619367	G G	GACACACA others(15): Show GACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0009 a0001c0001t0005g0009	1	164	0.0061	22	c.280 others(43): Show c.2807-38966_2807-38945dupGTGTGTGTGTGTGTGTGTGTGT	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80729058	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	164	0.0061	22	c.280 others(43): Show c.2806+13995_2806+14016dupACACACACACACACACACACAC	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80909371	T T	TCACACAC others(15): Show TCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0155 a0001c0001t0006g0155	1	164	0.0061	22	c.235 others(39): Show c.235-3312_235-3291dupTGTGTGTGTGTGTGTGTGTGTG	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	4/24			chr14	TogoVar
CEP152_chr15_48732938_48816069	48765636	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	342	0.0029	22	c.228 others(41): Show c.2280+1402_2280+1423dupAAAAAAAAAAAAAAAAAAAAAA	CEP152	ENSG00000103995.14	transcript	ENST00000380950.7	protein_coding	17/26			chr15	TogoVar
CEP170_chr1_243119428_243260281	243159763	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG02004.hp1 others(4): Show HG01168.hp2 HG01169.hp2 HG02004.hp1 HG04184.hp1 NA19030.hp1 NA19085.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0034 a0001c0001t0001g0041 a0001c0001t0001g0051 others(4): Show a0001c0001t0001g0034 a0001c0001t0001g0041 a0001c0001t0001g0051 a0001c0001t0001g0113 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0003g0124	7	303	0.0231	22	c.367 others(41): Show c.3677-3330_3677-3309dupCACACACACACACACACACACA	CEP170	ENSG00000143702.16	transcript	ENST00000366542.6	protein_coding	13/19			chr1	TogoVar
CEP192_chr18_12986362_13130036	13085756	T T	TCTGTTTT others(15): Show TCTGTTTTGGTATCAGGACCATG	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18974.hp2 NA18992.hp2 HG02040.hp2 NA18974.hp2 NA18992.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0265 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0265	3	392	0.0077	22	c.561 others(41): Show c.5617-1250_5617-1229dupATCAGGACCATGCTGTTTTGGT	CEP192	ENSG00000101639.19	transcript	ENST00000506447.5	protein_coding	30/44		INFO_REALIGN_3_PRIME	chr18	TogoVar
CEP295NL_chr17_78885579_78908201	78893212	T T	TGTGTGTG others(15): Show TGTGTGTGCAGGGGTGTATAGAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03209.hp1 HG03453.hp1 others(1): Show HG03130.hp1 HG03209.hp1 HG03453.hp1 NA19043.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0003 a0008c0008t0001 a0008c0008t0003	a0008c0008t0001g0037 a0008c0008t0001g0196 a0008c0008t0003g0135 a0008c0008t0001g0037 a0008c0008t0001g0196 a0008c0008t0003g0135	4	430	0.0093	22	c.45- others(35): Show c.45-754_45-753insTTCTATACACCCCTGCACACAC	CEP295NL	ENSG00000178404.11	transcript	ENST00000322630.3	protein_coding	2/2			chr17	TogoVar
CEP350_chr1_179949810_180119875	180030317	A A	ATATGTAT others(15): Show ATATGTATATATATACTTATGTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show HG01243.hp1 HG02809.hp2 HG03041.hp1 HG03540.hp1 NA19240.hp1	a0002 a0016 a0002 a0016	a0002c0002 a0002c0022 a0016c0023 a0002c0002 a0002c0022 a0016c0023	a0002c0002t0002 a0002c0022t0002 a0016c0023t0002 a0002c0002t0002 a0002c0022t0002 a0016c0023t0002	a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0005 others(2): Show a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0022t0002g0002 a0016c0023t0002g0006	5	248	0.0202	22	c.355 others(40): Show c.3551-1000_3551-999insGTATATATATACTTATGTGTAT	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	14/37		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP43_chr6_166994397_167057718	167042814	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp1 others(76): Show HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00438.hp1 HG00609.hp2 HG00642.hp2 HG00673.hp1 HG01099.hp2 HG01358.hp1 HG01361.hp2 HG01517.hp1 HG02004.hp2 HG02083.hp2 HG02109.hp2 HG02257.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02698.hp1 HG02735.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03654.hp1 HG03688.hp2 HG03704.hp1 HG03834.hp1 HG03927.hp1 HG04199.hp1 HG04204.hp2 NA18612.hp1 NA18946.hp2 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18965.hp1 NA18970.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18978.hp2 NA18981.hp2 NA18987.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18993.hp2 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA19001.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19055.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp2 NA19080.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp2 NA19090.hp2 NA20752.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0004 a0005c0005 a0001c0001 a0004c0004 a0005c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(27): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0021 a0001c0001t0044 a0001c0001t0055 a0001c0001t0056 a0001c0001t0089 a0001c0001t0106 a0001c0001t0110 a0001c0001t0136 a0001c0001t0137 a0001c0001t0138 a0001c0001t0139 a0001c0001t0157 a0001c0001t0158 a0001c0001t0159 a0001c0001t0177 a0001c0001t0180 a0001c0001t0189 a0001c0001t0202 a0001c0001t0203 a0001c0001t0204 a0001c0001t0205 a0001c0001t0213 a0001c0001t0215 a0001c0001t0216 a0004c0004t0038 a0004c0004t0111 a0005c0005t0019	a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0014 others(65): Show a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0003g0006 a0001c0001t0003g0043 a0001c0001t0003g0045 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0224 a0001c0001t0003g0230 a0001c0001t0003g0236 a0001c0001t0003g0240 a0001c0001t0003g0242 a0001c0001t0003g0258 a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0078 a0001c0001t0004g0079 a0001c0001t0004g0083 a0001c0001t0004g0089 a0001c0001t0004g0100 a0001c0001t0021g0003 a0001c0001t0021g0096 a0001c0001t0044g0030 a0001c0001t0055g0005 a0001c0001t0056g0014 a0001c0001t0056g0118 a0001c0001t0089g0014 a0001c0001t0106g0085 a0001c0001t0110g0162 a0001c0001t0136g0003 a0001c0001t0137g0022 a0001c0001t0138g0010 a0001c0001t0139g0022 a0001c0001t0157g0248 a0001c0001t0158g0226 a0001c0001t0159g0047 a0001c0001t0177g0273 a0001c0001t0180g0154 a0001c0001t0189g0126 a0001c0001t0202g0111 a0001c0001t0203g0140 a0001c0001t0204g0084 a0001c0001t0205g0120 a0001c0001t0213g0115 a0001c0001t0215g0153 a0001c0001t0216g0145 a0004c0004t0038g0088 a0004c0004t0038g0097 a0004c0004t0111g0021 a0005c0005t0019g0040 a0005c0005t0019g0213	79	376	0.2101	22	c.28 others(33): Show c.2840_*2861dupGTGTGTGTGTGTGTGTGTGTGT	CEP43	ENSG00000213066.14	transcript	ENST00000366847.9	protein_coding	13/13	2862	INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP57L1_chr6_109090507_109179418	109177637	A A	AATATATA others(15): Show AATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0180 a0001c0001t0024g0180	1	228	0.0044	22	c.14 others(35): Show c.14667_*14668insATATATATATATATATATATAT	CEP57L1	ENSG00000183137.16	transcript	ENST00000517392.6	protein_coding		3220		chr6	TogoVar
CEP57L1_chr6_109090507_109179418	109177675	T T	TATATATA others(15): Show TATATATATATATATATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0026 a0002c0002t0026	a0002c0002t0026g0026 a0002c0002t0026g0026	1	228	0.0044	22	c.14 others(35): Show c.14705_*14706insATATATATATATATATATATAA	CEP57L1	ENSG00000183137.16	transcript	ENST00000517392.6	protein_coding		3258		chr6	TogoVar
CEP63_chr3_134481057_134570031	134503840	G G	GTTTCCAT others(15): Show GTTTCCATTTGTGTAGGATATTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(203): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02145.hp2 HG02155.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18947.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18955.hp1 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18981.hp1 NA18982.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp2 NA19060.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp2 NA19074.hp2 NA19076.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008	a0001c0001 a0001c0003 a0001c0004 others(9): Show a0001c0001 a0001c0003 a0001c0004 a0001c0010 a0002c0002 a0002c0005 a0002c0011 a0003c0006 a0004c0007 a0005c0013 a0007c0009 a0008c0008	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(23): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0015 a0001c0001t0024 a0001c0001t0025 a0001c0001t0029 a0001c0003t0001 a0001c0003t0003 a0001c0003t0008 a0001c0003t0023 a0001c0003t0027 a0001c0003t0028 a0001c0004t0003 a0001c0010t0001 a0002c0002t0001 a0002c0002t0022 a0002c0002t0026 a0002c0005t0001 a0002c0011t0001 a0003c0006t0001 a0004c0007t0003 a0005c0013t0007 a0007c0009t0001 a0008c0008t0003	a0001c0001t0001g0008 a0001c0001t0001g0129 a0001c0001t0001g0130 others(198): Show a0001c0001t0001g0008 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0216 a0001c0001t0001g0221 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0007g0113 a0001c0001t0007g0114 a0001c0001t0007g0115 a0001c0001t0007g0116 a0001c0001t0009g0097 a0001c0001t0009g0098 a0001c0001t0009g0099 a0001c0001t0009g0100 a0001c0001t0012g0105 a0001c0001t0012g0106 a0001c0001t0012g0107 a0001c0001t0015g0144 a0001c0001t0015g0145 a0001c0001t0024g0117 a0001c0001t0025g0119 a0001c0001t0029g0136 a0001c0003t0001g0006 a0001c0003t0001g0134 a0001c0003t0001g0140 a0001c0003t0001g0141 a0001c0003t0001g0143 a0001c0003t0001g0146 a0001c0003t0001g0147 a0001c0003t0001g0150 a0001c0003t0001g0151 a0001c0003t0001g0152 a0001c0003t0001g0153 a0001c0003t0003g0154 a0001c0003t0003g0155 a0001c0003t0003g0156 a0001c0003t0003g0157 a0001c0003t0003g0158 a0001c0003t0003g0160 a0001c0003t0003g0161 a0001c0003t0003g0162 a0001c0003t0003g0165 a0001c0003t0003g0166 a0001c0003t0003g0167 a0001c0003t0003g0168 a0001c0003t0003g0169 a0001c0003t0003g0170 a0001c0003t0003g0171 a0001c0003t0003g0172 a0001c0003t0003g0174 a0001c0003t0003g0175 a0001c0003t0003g0176 a0001c0003t0003g0177 a0001c0003t0003g0179 a0001c0003t0003g0181 a0001c0003t0003g0183 a0001c0003t0003g0184 a0001c0003t0003g0185 a0001c0003t0003g0187 a0001c0003t0003g0188 a0001c0003t0003g0189 a0001c0003t0003g0191 a0001c0003t0003g0194 a0001c0003t0003g0195 a0001c0003t0003g0196 a0001c0003t0003g0197 a0001c0003t0003g0198 a0001c0003t0003g0200 a0001c0003t0003g0201 a0001c0003t0003g0202 a0001c0003t0003g0203 a0001c0003t0003g0204 a0001c0003t0003g0205 a0001c0003t0008g0007 a0001c0003t0008g0180 a0001c0003t0008g0199 a0001c0003t0023g0173 a0001c0003t0027g0163 a0001c0003t0028g0164 a0001c0004t0003g0190 a0001c0004t0003g0192 a0001c0004t0003g0193 a0001c0010t0001g0290 a0002c0002t0001g0002 a0002c0002t0001g0103 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0285 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0293 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0303 a0002c0002t0001g0308 a0002c0002t0001g0311 a0002c0002t0022g0246 a0002c0002t0026g0304 a0002c0005t0001g0159 a0002c0005t0001g0178 a0002c0011t0001g0294 a0003c0006t0001g0220 a0003c0006t0001g0222 a0004c0007t0003g0186 a0005c0013t0007g0112 a0007c0009t0001g0135 a0008c0008t0003g0182	206	322	0.6398	22	c.45- others(37): Show c.45-3264_45-3263insATTTGTGTAGGATATTTTTTCC	CEP63	ENSG00000182923.20	transcript	ENST00000675561.1	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
CEP63_chr3_134481057_134570031	134527870	A A	AGTTCGGG others(15): Show AGTTCGGGTCCAACAGTTGCCTT	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA18947.hp1 HG02015.hp1 NA18947.hp1	a0001 a0008 a0001 a0008	a0001c0003 a0008c0008 a0001c0003 a0008c0008	a0001c0003t0003 a0008c0008t0003 a0001c0003t0003 a0008c0008t0003	a0001c0003t0003g0165 a0008c0008t0003g0182 a0001c0003t0003g0165 a0008c0008t0003g0182	2	322	0.0062	22	c.223 others(39): Show c.223-3974_223-3953dupGTTCGGGTCCAACAGTTGCCTT	CEP63	ENSG00000182923.20	transcript	ENST00000675561.1	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
CEP63_chr3_134481057_134570031	134538531	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0223 a0002c0002t0001g0223	1	322	0.0031	22	c.555 others(39): Show c.555+1264_555+1265insATATATATATATATATATATAT	CEP63	ENSG00000182923.20	transcript	ENST00000675561.1	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
CEP63_chr3_134481057_134570031	134547614	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00738.hp1 HG01099.hp2 others(19): Show HG00323.hp1 HG00738.hp1 HG01099.hp2 HG01175.hp2 HG01192.hp1 HG01258.hp1 HG01346.hp2 HG01981.hp1 HG02698.hp1 HG03239.hp2 HG03540.hp1 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA19000.hp1 NA19007.hp1 NA19009.hp1 NA19054.hp2 NA19066.hp1 NA19074.hp2 NA19083.hp1 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0022 a0002c0002t0001 a0002c0002t0022	a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0231 others(19): Show a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0231 a0002c0002t0001g0236 a0002c0002t0001g0239 a0002c0002t0001g0241 a0002c0002t0001g0245 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0258 a0002c0002t0001g0260 a0002c0002t0001g0271 a0002c0002t0001g0273 a0002c0002t0001g0278 a0002c0002t0001g0283 a0002c0002t0001g0296 a0002c0002t0001g0298 a0002c0002t0001g0303 a0002c0002t0001g0311 a0002c0002t0022g0246	22	322	0.0683	22	c.106 others(39): Show c.1067+157_1067+158insTTTTTTTTTTTTTTTTTTTTTT	CEP63	ENSG00000182923.20	transcript	ENST00000675561.1	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
CEP70_chr3_138489344_138599260	138504841	C C	CAGAAAAT others(15): Show CAGAAAATAAAGTGTGAAGAGAG	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0236 a0002c0002t0002g0236	1	318	0.0031	22	c.122 others(39): Show c.1221+432_1221+453dupCTCTCTTCACACTTTATTTTCT	CEP70	ENSG00000114107.9	transcript	ENST00000264982.8	protein_coding	13/17			chr3	TogoVar
CEP72_chr5_607340_658553	607885	C C	CTGGGTGT others(15): Show CTGGGTGTGAGACTGTGTGTGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	91	0.0110	22	c.-44 others(33): Show c.-4477_-4476insTGGGTGTGAGACTGTGTGTGGG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding		4454		chr5	TogoVar
CEP72_chr5_607340_658553	650590	G G	GGCGTGGA others(15): Show GGCGTGGACTGTGAGGCGTGGAC	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp2 HG02738.hp2 others(1): Show HG02683.hp1 HG02683.hp2 HG02738.hp2 HG03688.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0007 a0002c0002 a0005c0007	a0002c0002t0001 a0005c0007t0001 a0002c0002t0001 a0005c0007t0001	a0002c0002t0001g0073 a0002c0002t0001g0077 a0002c0002t0001g0080 others(1): Show a0002c0002t0001g0073 a0002c0002t0001g0077 a0002c0002t0001g0080 a0005c0007t0001g0076	4	91	0.0440	22	c.177 others(41): Show c.1779-2398_1779-2397insGCGTGGACTGTGAGGCGTGGAC	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11			chr5	TogoVar
CEP83_chr12_94302698_94464867	94343470	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	364	0.0028	22	c.134 others(41): Show c.1344-7828_1344-7807dupAAAAAAAAAAAAAAAAAAAAAA	CEP83	ENSG00000173588.16	transcript	ENST00000397809.10	protein_coding	11/16			chr12	TogoVar
CEP85L_chr6_118455772_118656591	118567249	G G	GTGTATAT others(15): Show GTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0086 a0001c0001t0004g0086	1	302	0.0033	22	c.233 others(37): Show c.233-934_233-933insTATATATATATATATATATACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118600300	G G	GGGGGGGG others(15): Show GGGGGGGGGGGGGGGGGGTGTGT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0203 a0002c0002t0002g0203	1	302	0.0033	22	c.232 others(41): Show c.232+32152_232+32153insACACACCCCCCCCCCCCCCCCC	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118600300	G G	GGGGGGGG others(15): Show GGGGGGGGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0219 a0003c0003t0002g0219	1	302	0.0033	22	c.232 others(41): Show c.232+32152_232+32153insACACACACACACACACCCCCCC	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85_chr1_26229200_26283808	26248722	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18949.hp2 NA18977.hp1 others(3): Show NA18943.hp2 NA18949.hp2 NA18977.hp1 NA18986.hp1 NA19043.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0119 a0001c0001t0003g0127 a0001c0001t0003g0128 others(3): Show a0001c0001t0003g0119 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0131	6	342	0.0175	22	c.208 others(39): Show c.208+4405_208+4426dupTTTTTTTTTTTTTTTTTTTTTT	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP85_chr1_26229200_26283808	26256928	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02809.hp1 HG02809.hp2 HG02683.hp2 HG02809.hp1 HG02809.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0016 a0003c0003 a0001c0001 a0001c0016 a0003c0003	a0001c0001t0003 a0001c0016t0011 a0003c0003t0004 a0001c0001t0003 a0001c0016t0011 a0003c0003t0004	a0001c0001t0003g0097 a0001c0016t0011g0324 a0003c0003t0004g0319 a0001c0001t0003g0097 a0001c0016t0011g0324 a0003c0003t0004g0319	3	342	0.0088	22	c.904 others(37): Show c.904-662_904-641dupGTGTGTGTGTGTGTGTGTGTGT	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP89_chr19_32870925_32976958	32902004	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00642.hp2 HG02165.hp2 others(5): Show HG00438.hp1 HG00642.hp2 HG02165.hp2 HG04228.hp2 NA18943.hp2 NA19002.hp1 NA19081.hp2 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0002t0015 a0001c0004t0001 a0001c0002t0001 a0001c0002t0015 a0001c0004t0001	a0001c0002t0001g0030 a0001c0002t0001g0032 a0001c0002t0001g0034 others(5): Show a0001c0002t0001g0030 a0001c0002t0001g0032 a0001c0002t0001g0034 a0001c0002t0001g0042 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0015g0044 a0001c0004t0001g0200	8	386	0.0207	22	c.156 others(39): Show c.1566-593_1566-592insCACACACACACACACACACACA	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	14/18			chr19	TogoVar
CEP89_chr19_32870925_32976958	32902008	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0029 a0003c0010t0029	a0003c0010t0029g0307 a0003c0010t0029g0307	1	386	0.0026	22	c.156 others(39): Show c.1566-597_1566-596insCACACACACACACACACACACA	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	14/18			chr19	TogoVar
CEP89_chr19_32870925_32976958	32944220	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00741.hp1 HG01106.hp2 others(9): Show HG00280.hp2 HG00741.hp1 HG01106.hp2 HG01175.hp1 HG01243.hp1 HG01928.hp2 HG02698.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp2 NA19030.hp2	a0000 a0003 a0000 a0003	a0000c0005 a0003c0010 a0000c0005 a0003c0010	a0000c0005t0005 a0000c0005t0019 a0003c0010t0002 a0000c0005t0005 a0000c0005t0019 a0003c0010t0002	a0000c0005t0005g0099 a0000c0005t0005g0100 a0000c0005t0005g0103 others(9): Show a0000c0005t0005g0099 a0000c0005t0005g0100 a0000c0005t0005g0103 a0000c0005t0005g0104 a0000c0005t0005g0106 a0000c0005t0005g0108 a0000c0005t0005g0110 a0000c0005t0005g0115 a0000c0005t0005g0119 a0000c0005t0005g0269 a0000c0005t0019g0114 a0003c0010t0002g0105	12	386	0.0311	22	c.595 others(39): Show c.595+4045_595+4046insTTTTTTTTTTTTTTTTTTTTTT	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	5/18			chr19	TogoVar
CEP89_chr19_32870925_32976958	32951534	T T	TATATATA others(15): Show TATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02922.hp2 HG03453.hp2 others(1): Show HG02717.hp1 HG02922.hp2 HG03453.hp2 NA19043.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0006c0009 a0001c0002 a0006c0009	a0001c0002t0010 a0006c0009t0011 a0001c0002t0010 a0006c0009t0011	a0001c0002t0010g0377 a0006c0009t0011g0123 a0006c0009t0011g0124 others(1): Show a0001c0002t0010g0377 a0006c0009t0011g0123 a0006c0009t0011g0124 a0006c0009t0011g0125	4	386	0.0104	22	c.492 others(39): Show c.492+2080_492+2081insGTGTGTGTATATATATATATAT	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	4/18			chr19	TogoVar
CEP89_chr19_32870925_32976958	32951534	T T	TATATATA others(15): Show TATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0376 a0001c0002t0010g0376	1	386	0.0026	22	c.492 others(39): Show c.492+2080_492+2081insGTGTGTATATATATATATATAT	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	4/18			chr19	TogoVar
CERKL_chr2_181531672_181662105	181606391	A A	AGAGGAGG others(15): Show AGAGGAGGGGGAGGGGAGGGGAG	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0247 a0002c0004t0004g0247	1	298	0.0034	22	c.239 others(39): Show c.239-2334_239-2313dupCTCCCCTCCCCTCCCCCTCCTC	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	1/12			chr2	TogoVar
CERK_chr22_46679410_46743252	46691056	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02735.hp1 HG02976.hp2 others(1): Show HG01978.hp2 HG02735.hp1 HG02976.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0007 a0001c0004t0018 a0001c0004t0025 a0001c0001t0007 a0001c0004t0018 a0001c0004t0025	a0001c0001t0007g0196 a0001c0004t0018g0326 a0001c0004t0025g0132 others(1): Show a0001c0001t0007g0196 a0001c0004t0018g0326 a0001c0004t0025g0132 a0001c0004t0025g0138	4	340	0.0118	22	c.133 others(39): Show c.1332+494_1332+515dupGTGTGTGTGTGTGTGTGTGTGT	CERK	ENSG00000100422.14	transcript	ENST00000216264.13	protein_coding	11/12			chr22	TogoVar
CERS3_chr15_100395395_100533950	100467874	G G	GATAGATA others(15): Show GATAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0113 a0001c0001t0008g0113	1	362	0.0028	22	c.845 others(39): Show c.845+1503_845+1504insATCTATCTATCTATCTATCTAT	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11			chr15	TogoVar
CERS3_chr15_100395395_100533950	100467874	G G	GATAGATA others(15): Show GATAGATAGATATAGATATAGAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0036 a0002c0002t0014g0036	1	362	0.0028	22	c.845 others(39): Show c.845+1503_845+1504insATCTATATCTATATCTATCTAT	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11			chr15	TogoVar
CERS3_chr15_100395395_100533950	100526478	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp2 HG01081.hp1 others(10): Show HG00323.hp1 HG00642.hp2 HG01081.hp1 HG01106.hp2 HG02004.hp2 HG02074.hp2 HG02698.hp1 HG02735.hp1 HG03041.hp2 HG04184.hp2 NA18975.hp2 NA19012.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0010 a0002c0002t0001 a0002c0002t0003 a0002c0002t0020 a0002c0002t0028	a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 others(10): Show a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0002g0027 a0001c0001t0002g0260 a0001c0001t0002g0302 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0003t0010g0340 a0002c0002t0001g0049 a0002c0002t0003g0050 a0002c0002t0020g0051 a0002c0002t0028g0305	13	362	0.0359	22	c.-92 others(39): Show c.-92+2313_-92+2334dupCACACACACACACACACACACA	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	1/11			chr15	TogoVar
CERS4_chr19_8204370_8267421	8240585	A A	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01169.hp1 HG02280.hp1 others(13): Show HG00741.hp1 HG01169.hp1 HG02280.hp1 HG02622.hp1 HG02970.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG04184.hp2 NA18966.hp2 NA18974.hp1 NA19059.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0012 others(3): Show a0001c0001 a0001c0002 a0001c0012 a0002c0003 a0004c0005 a0004c0009	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0012t0002 a0002c0003t0001 a0004c0005t0007 a0004c0005t0008 a0004c0009t0007	a0001c0001t0002g0144 a0001c0001t0002g0267 a0001c0001t0002g0339 others(13): Show a0001c0001t0002g0144 a0001c0001t0002g0267 a0001c0001t0002g0339 a0001c0001t0002g0388 a0001c0001t0002g0389 a0001c0001t0003g0046 a0001c0002t0001g0099 a0001c0012t0002g0145 a0002c0003t0001g0040 a0002c0003t0001g0216 a0002c0003t0001g0279 a0004c0005t0007g0002 a0004c0005t0008g0104 a0004c0009t0007g0285 a0004c0009t0007g0291 a0004c0009t0007g0336	16	418	0.0383	22	c.-1- others(39): Show c.-1-10482_-1-10461dupGTGTGTGTGTGTGTGTGTGTGT	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CERS4_chr19_8204370_8267421	8245116	A A	AAACAAAA others(15): Show AAACAAAAAAAACAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0223 a0001c0001t0002g0223	1	418	0.0024	22	c.-1- others(37): Show c.-1-5958_-1-5957insCAAAAAAAACAAAAAAAAACAA	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CERS4_chr19_8204370_8267421	8266863	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02723.hp2 HG02698.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0142 a0001c0001t0003g0064 a0001c0001t0002g0142 a0001c0001t0003g0064	2	418	0.0048	22	c.47 others(33): Show c.4754_*4755insAAAAAAAAAAAAAAAAAAAAAA	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding		4443		chr19	TogoVar
CERS4_chr19_8204370_8267421	8267294	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG02135.hp1 HG03486.hp1 others(3): Show HG00140.hp2 HG02135.hp1 HG03486.hp1 HG03492.hp1 HG03834.hp2 NA19063.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0004 a0001c0001 a0002c0003 a0003c0004	a0001c0001t0003 a0001c0001t0006 a0002c0003t0001 others(2): Show a0001c0001t0003 a0001c0001t0006 a0002c0003t0001 a0002c0003t0004 a0003c0004t0001	a0001c0001t0003g0012 a0001c0001t0006g0226 a0002c0003t0001g0216 others(3): Show a0001c0001t0003g0012 a0001c0001t0006g0226 a0002c0003t0001g0216 a0002c0003t0004g0356 a0003c0004t0001g0021 a0003c0004t0001g0069	6	418	0.0144	22	c.51 others(33): Show c.5185_*5186insAAAAAAAAAAAAAAAAAAAAAA	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding		4874		chr19	TogoVar
CERS5_chr12_50124289_50172369	50140284	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02622.hp2 HG03471.hp2 others(2): Show HG02257.hp1 HG02622.hp2 HG03471.hp2 NA18906.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0005 a0001c0001t0008	a0001c0001t0005g0019 a0001c0001t0005g0020 a0001c0001t0008g0314 others(2): Show a0001c0001t0005g0019 a0001c0001t0005g0020 a0001c0001t0008g0314 a0001c0001t0008g0315 a0001c0001t0008g0316	5	320	0.0156	22	c.493 others(39): Show c.493-1689_493-1668dupAAAAAAAAAAAAAAAAAAAAAA	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	4/9			chr12	TogoVar
CERS5_chr12_50124289_50172369	50148921	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0280 a0001c0002t0002g0280	1	320	0.0031	22	c.198 others(39): Show c.198-4865_198-4864insATATATATATATATATATATAT	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	1/9			chr12	TogoVar
CERS5_chr12_50124289_50172369	50148946	A A	ATATATAT others(15): Show ATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0177 a0001c0002t0002g0177	1	320	0.0031	22	c.198 others(39): Show c.198-4890_198-4889insCATATATATATATATATATATA	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	1/9			chr12	TogoVar

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