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
CEP57L1_chr6_109090507_109179418	109136697	GTATTTTT others(4): Show GTATTTTTATTT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG02451.hp2 others(4): Show HG02055.hp1 HG02109.hp1 HG02451.hp2 HG02486.hp2 HG02886.hp1 HG03540.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 a0001c0001 a0001c0007 a0002c0002	a0001c0001t0024 a0001c0007t0029 a0002c0002t0030 others(4): Show a0001c0001t0024 a0001c0007t0029 a0002c0002t0030 a0002c0002t0068 a0002c0002t0074 a0002c0002t0078 a0002c0002t0080	a0001c0001t0024g0180 a0001c0007t0029g0005 a0002c0002t0030g0211 others(4): Show a0001c0001t0024g0180 a0001c0007t0029g0005 a0002c0002t0030g0211 a0002c0002t0068g0009 a0002c0002t0074g0006 a0002c0002t0078g0205 a0002c0002t0080g0210	7	228	0.0307	-11	c.-3- others(26): Show c.-3-8515_-3-8505delTATTTTATTTT	CEP57L1	ENSG00000183137.16	transcript	ENST00000517392.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP57L1_chr6_109090507_109179418	109153231	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03225.hp1 HG03540.hp2 others(2): Show HG02572.hp1 HG03225.hp1 HG03540.hp2 HG03579.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0027 a0001c0001t0028 a0001c0001t0012 a0001c0001t0027 a0001c0001t0028	a0001c0001t0012g0218 a0001c0001t0012g0219 a0001c0001t0012g0220 others(2): Show a0001c0001t0012g0218 a0001c0001t0012g0219 a0001c0001t0012g0220 a0001c0001t0027g0217 a0001c0001t0028g0221	5	228	0.0219	-11	c.463 others(26): Show c.463-584_463-574delTTTTTTTTTTT	CEP57L1	ENSG00000183137.16	transcript	ENST00000517392.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP57L1_chr6_109090507_109179418	109178673	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	228	0.0044	-11	c.15 others(24): Show c.15704_*15714delAAAAAAAAAAA	CEP57L1	ENSG00000183137.16	transcript	ENST00000517392.6	protein_coding		4256		chr6	TogoVar
CEP57_chr11_95785498_95837693	95802255	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0124 a0001c0001t0004g0124	1	340	0.0029	-11	c.202 others(28): Show c.202+2876_202+2886delTTTTTTTTTTT	CEP57	ENSG00000166037.11	transcript	ENST00000325542.10	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP57_chr11_95785498_95837693	95825871	TCTGTAAT others(4): Show TCTGTAATCCCA	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0135 a0001c0001t0011g0135	1	340	0.0029	-11	c.886 others(28): Show c.886-1903_886-1893delCTGTAATCCCA	CEP57	ENSG00000166037.11	transcript	ENST00000325542.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP63_chr3_134481057_134570031	134557376	GTTTTTTT others(4): Show GTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02258.hp2 HG02451.hp1 HG01891.hp2 HG02258.hp2 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0086 a0001c0001t0010g0090 a0001c0001t0010g0091 a0001c0001t0010g0086 a0001c0001t0010g0090 a0001c0001t0010g0091	3	322	0.0093	-11	c.146 others(28): Show c.1468-748_1468-738delTTTTTTTTTTT	CEP63	ENSG00000182923.20	transcript	ENST00000675561.1	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
CEP72_chr5_607340_658553	649777	GTGAGGTG others(4): Show GTGAGGTGTGAC	G G	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG02451.hp2 NA19010.hp1 others(2): Show HG01258.hp1 HG02451.hp2 NA19010.hp1 NA20129.hp1 NA20129.hp2	a0003 a0003	a0003c0003 a0003c0005 a0003c0003 a0003c0005	a0003c0003t0002 a0003c0005t0002 a0003c0003t0002 a0003c0005t0002	a0003c0003t0002g0020 a0003c0003t0002g0022 a0003c0003t0002g0026 others(2): Show a0003c0003t0002g0020 a0003c0003t0002g0022 a0003c0003t0002g0026 a0003c0005t0002g0014 a0003c0005t0002g0019	5	91	0.0550	-11	c.177 others(30): Show c.1778+1875_1778+1885delAGGTGTGACTG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP72_chr5_607340_658553	649854	GTGAGGCG others(4): Show GTGAGGCGTGAC	G G	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 NA19010.hp1 HG01256.hp2 HG01258.hp1 NA19010.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0022 a0003c0003t0002g0023 a0003c0003t0002g0026 a0003c0003t0002g0022 a0003c0003t0002g0023 a0003c0003t0002g0026	3	91	0.0330	-11	c.177 others(30): Show c.1778+1944_1778+1954delCGTGACTGAGG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP72_chr5_607340_658553	650436	GGACTGAG others(4): Show GGACTGAGGTGT	G G	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0022 a0003c0003t0002g0022	1	91	0.0110	-11	c.177 others(30): Show c.1778+2526_1778+2536delAGGTGTGACTG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP76_chr18_12667625_12707723	12668597	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02886.hp1 HG01891.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0092 a0001c0001t0004g0182 a0001c0001t0001g0092 a0001c0001t0004g0182	2	380	0.0053	-11	c.47 others(22): Show c.4757_*4767delTTTTTTTTTTT	CEP76	ENSG00000101624.11	transcript	ENST00000262127.7	protein_coding		4027		chr18	TogoVar
CEP76_chr18_12667625_12707723	12668734	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG02055.hp2 HG02965.hp1 others(4): Show HG00639.hp1 HG02055.hp2 HG02965.hp1 HG02965.hp2 HG03139.hp1 HG03579.hp1 NA21309.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0001 a0006c0006t0001 a0001c0001t0001 a0006c0006t0001	a0001c0001t0001g0017 a0001c0001t0001g0048 a0001c0001t0001g0050 others(3): Show a0001c0001t0001g0017 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0006c0006t0001g0057	7	380	0.0184	-11	c.46 others(22): Show c.4620_*4630delAAAAAAAAAAA	CEP76	ENSG00000101624.11	transcript	ENST00000262127.7	protein_coding		3890		chr18	TogoVar
CEP76_chr18_12667625_12707723	12671638	CTTTCTTT others(4): Show CTTTCTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02486.hp2 HG03130.hp2 others(1): Show HG02451.hp1 HG02486.hp2 HG03130.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 others(1): Show a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0063	4	380	0.0105	-11	c.17 others(22): Show c.1716_*1726delAAAAAAAGAAA	CEP76	ENSG00000101624.11	transcript	ENST00000262127.7	protein_coding		986		chr18	TogoVar
CEP83_chr12_94302698_94464867	94343470	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA19007.hp1 NA19083.hp1 NA18940.hp2 NA19007.hp1 NA19083.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0001 a0001c0003t0002	a0001c0003t0001g0073 a0001c0003t0001g0101 a0001c0003t0002g0238 a0001c0003t0001g0073 a0001c0003t0001g0101 a0001c0003t0002g0238	3	364	0.0082	-11	c.134 others(30): Show c.1344-7817_1344-7807delAAAAAAAAAAA	CEP83	ENSG00000173588.16	transcript	ENST00000397809.10	protein_coding	11/16			chr12	TogoVar
CEP85L_chr6_118455772_118656591	118484126	ATGGCAAA others(4): Show ATGGCAAAACCC	A A	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	302	0.0033	-11	c.143 others(28): Show c.1438-279_1438-269delGGGTTTTGCCA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	6/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118505409	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp2 others(88): Show HG00099.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00544.hp1 HG00741.hp2 HG01069.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01167.hp1 HG01192.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp1 HG01516.hp1 HG01517.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02148.hp1 HG02155.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02896.hp1 HG02897.hp1 HG03017.hp1 HG03139.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03516.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 NA18942.hp1 NA18944.hp2 NA18951.hp2 NA18955.hp1 NA18957.hp2 NA18964.hp1 NA18966.hp1 NA18968.hp1 NA18974.hp1 NA18975.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18989.hp2 NA18990.hp2 NA18992.hp2 NA18999.hp2 NA19002.hp1 NA19003.hp2 NA19005.hp2 NA19007.hp2 NA19012.hp1 NA19043.hp1 NA19062.hp1 NA19074.hp1 NA19077.hp1 NA19081.hp1 NA19084.hp2 NA19086.hp2 NA19091.hp2 NA20129.hp1 NA20300.hp1	a0001 a0008 a0009 others(1): Show a0001 a0008 a0009 a0012	a0001c0001 a0008c0013 a0009c0008 others(1): Show a0001c0001 a0008c0013 a0009c0008 a0012c0009	a0001c0001t0001 a0001c0001t0010 a0001c0001t0012 others(5): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0012 a0001c0001t0018 a0001c0001t0023 a0008c0013t0001 a0009c0008t0022 a0012c0009t0001	a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 others(88): Show a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0010g0074 a0001c0001t0010g0075 a0001c0001t0010g0076 a0001c0001t0010g0077 a0001c0001t0010g0079 a0001c0001t0010g0080 a0001c0001t0010g0081 a0001c0001t0012g0063 a0001c0001t0012g0065 a0001c0001t0018g0150 a0001c0001t0023g0078 a0008c0013t0001g0071 a0009c0008t0022g0112 a0012c0009t0001g0157	91	302	0.3013	-11	c.125 others(30): Show c.1257+5878_1257+5888delTTTTTTTTTTT	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	5/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118519462	GTGTGTGT others(4): Show GTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02976.hp1 HG02486.hp2 HG02976.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0019 a0007c0007t0020 a0007c0007t0019 a0007c0007t0020	a0007c0007t0019g0299 a0007c0007t0020g0176 a0007c0007t0019g0299 a0007c0007t0020g0176	2	302	0.0066	-11	c.113 others(30): Show c.1139+4329_1139+4339delACACACACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	4/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118519564	GTGTGTGT others(4): Show GTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0234 a0002c0002t0002g0234	1	302	0.0033	-11	c.113 others(30): Show c.1139+4227_1139+4237delACACACACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	4/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118519566	GTGTGTGT others(4): Show GTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0199 a0002c0002t0002g0199	1	302	0.0033	-11	c.113 others(30): Show c.1139+4225_1139+4235delACACACACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	4/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118519568	GTGTGTGT others(4): Show GTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02257.hp2 HG02615.hp1 others(5): Show HG01891.hp1 HG02257.hp2 HG02615.hp1 HG02717.hp1 HG02896.hp1 HG02897.hp1 NA18906.hp1 NA19240.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0001 a0006c0006t0009 a0006c0006t0021 a0001c0001t0001 a0006c0006t0009 a0006c0006t0021	a0001c0001t0001g0058 a0001c0001t0001g0060 a0006c0006t0009g0244 others(5): Show a0001c0001t0001g0058 a0001c0001t0001g0060 a0006c0006t0009g0244 a0006c0006t0009g0246 a0006c0006t0009g0247 a0006c0006t0009g0248 a0006c0006t0009g0291 a0006c0006t0021g0245	8	302	0.0265	-11	c.113 others(30): Show c.1139+4223_1139+4233delACACACACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	4/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118527002	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0231 a0002c0002t0002g0231	1	302	0.0033	-11	c.102 others(30): Show c.1021-3093_1021-3083delAAAAAAAAAAA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	3/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118529608	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	302	0.0033	-11	c.102 others(30): Show c.1021-5699_1021-5689delTTTTTTTTTTT	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	3/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118569341	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp2 HG02630.hp1 others(7): Show HG02109.hp2 HG02451.hp2 HG02630.hp1 HG02818.hp2 HG02886.hp1 HG02897.hp2 HG03139.hp1 HG03225.hp1 HG06807.hp1 NA19043.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0045 a0004c0004t0006g0046 a0004c0004t0006g0047 others(7): Show a0004c0004t0006g0045 a0004c0004t0006g0046 a0004c0004t0006g0047 a0004c0004t0006g0048 a0004c0004t0006g0049 a0004c0004t0006g0050 a0004c0004t0006g0051 a0004c0004t0006g0052 a0004c0004t0006g0053 a0004c0004t0006g0054	10	302	0.0331	-11	c.233 others(28): Show c.233-3036_233-3026delTTTTTTTTTTT	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118600294	CCTGGGGG others(4): Show CCTGGGGGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02148.hp1 HG03195.hp1 HG01975.hp1 HG02148.hp1 HG03195.hp1	a0001 a0007 a0009 a0001 a0007 a0009	a0001c0001 a0007c0007 a0009c0008 a0001c0001 a0007c0007 a0009c0008	a0001c0001t0001 a0007c0007t0011 a0009c0008t0022 a0001c0001t0001 a0007c0007t0011 a0009c0008t0022	a0001c0001t0001g0121 a0007c0007t0011g0255 a0009c0008t0022g0112 a0001c0001t0001g0121 a0007c0007t0011g0255 a0009c0008t0022g0112	3	302	0.0099	-11	c.232 others(30): Show c.232+32148_232+32158delCACACCCCCAG	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118600299	GGGTGTGT others(4): Show GGGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	302	0.0033	-11	c.232 others(30): Show c.232+32143_232+32153delACACACACACC	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118600301	GTGTGTGT others(4): Show GTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0002 a0003c0003t0003g0002	1	302	0.0033	-11	c.232 others(30): Show c.232+32141_232+32151delACACACACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118637703	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02155.hp2 HG00621.hp1 HG02155.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0015 a0005c0005t0015	a0005c0005t0015g0300 a0005c0005t0015g0301 a0005c0005t0015g0300 a0005c0005t0015g0301	2	302	0.0066	-11	c.74- others(26): Show c.74-5103_74-5093delTTTTTTTTTTT	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	1/12			chr6	TogoVar
CEP85_chr1_26229200_26283808	26243991	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(115): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00438.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00642.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02886.hp2 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03195.hp1 HG03225.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03834.hp1 HG03927.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18612.hp2 NA18939.hp1 NA18940.hp2 NA18944.hp1 NA18948.hp1 NA18951.hp1 NA18954.hp1 NA18960.hp2 NA18962.hp1 NA18966.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18979.hp1 NA18991.hp2 NA19001.hp1 NA19002.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19055.hp2 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19077.hp1 NA19079.hp1 NA19081.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19088.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0002c0012 others(2): Show a0001c0001 a0002c0002 a0002c0012 a0003c0005 a0005c0006	a0001c0001t0001 a0002c0002t0001 a0002c0002t0007 others(4): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0007 a0002c0002t0010 a0002c0012t0001 a0003c0005t0004 a0005c0006t0001	a0001c0001t0001g0169 a0001c0001t0001g0177 a0001c0001t0001g0178 others(112): Show a0001c0001t0001g0169 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0248 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0212 a0002c0002t0001g0215 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0267 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0279 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0286 a0002c0002t0007g0004 a0002c0002t0007g0213 a0002c0002t0007g0238 a0002c0002t0007g0280 a0002c0002t0010g0283 a0002c0012t0001g0187 a0003c0005t0004g0297 a0005c0006t0001g0260 a0005c0006t0001g0261 a0005c0006t0001g0278	118	342	0.3450	-11	c.56- others(24): Show c.56-159_56-149delAAAAAAAAAAA	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP85_chr1_26229200_26283808	26250925	CTTTTTTC others(4): Show CTTTTTTCTTTT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01168.hp1 HG01169.hp1 others(4): Show HG00733.hp2 HG01168.hp1 HG01169.hp1 HG02602.hp1 HG03130.hp2 HG03225.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0101 a0001c0001t0003g0121 others(2): Show a0001c0001t0003g0003 a0001c0001t0003g0101 a0001c0001t0003g0121 a0001c0001t0003g0137 a0001c0001t0003g0143	7	342	0.0205	-11	c.209 others(28): Show c.209-4239_209-4229delCTTTTTTTTTT	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP89_chr19_32870925_32976958	32883119	CCCAAAGT others(4): Show CCCAAAGTGCTG	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0000 a0000	a0000c0005 a0000c0005	a0000c0005t0005 a0000c0005t0005	a0000c0005t0005g0116 a0000c0005t0005g0116	1	386	0.0026	-11	c.196 others(30): Show c.1966-1117_1966-1107delCAGCACTTTGG	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	17/18			chr19	TogoVar
CERCAM_chr9_128415857_128442347	128441346	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	400	0.0025	-11	c.44 others(22): Show c.4499_*4509delTTTTTTTTTTT	CERCAM	ENSG00000167123.20	transcript	ENST00000372838.9	protein_coding		4000		chr9	TogoVar
CERS3_chr15_100395395_100533950	100512525	ACCATAAA others(4): Show ACCATAAAGACT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0318 a0002c0002t0009g0318	1	362	0.0028	-11	c.-2+ others(26): Show c.-2+9131_-2+9141delAGTCTTTATGG	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	2/11			chr15	TogoVar
CERS4_chr19_8204370_8267421	8221872	GTTTTTTT others(4): Show GTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA19240.hp1 HG02451.hp2 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0008 a0004c0005 a0001c0008 a0004c0005	a0001c0008t0001 a0004c0005t0008 a0001c0008t0001 a0004c0005t0008	a0001c0008t0001g0211 a0004c0005t0008g0209 a0001c0008t0001g0211 a0004c0005t0008g0209	2	418	0.0048	-11	c.-2+ others(28): Show c.-2+11027_-2+11037delTTTTTTTTTTT	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CERS4_chr19_8204370_8267421	8232889	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp1 HG03130.hp2 others(2): Show HG02109.hp2 HG02451.hp1 HG03130.hp2 HG03486.hp2 NA18522.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0004 a0001c0001 a0002c0003 a0003c0004	a0001c0001t0003 a0001c0001t0008 a0002c0003t0008 others(1): Show a0001c0001t0003 a0001c0001t0008 a0002c0003t0008 a0003c0004t0001	a0001c0001t0003g0391 a0001c0001t0008g0390 a0002c0003t0008g0107 others(2): Show a0001c0001t0003g0391 a0001c0001t0008g0390 a0002c0003t0008g0107 a0002c0003t0008g0403 a0003c0004t0001g0402	5	418	0.0120	-11	c.-1- others(28): Show c.-1-18171_-1-18161delTTTTTTTTTTT	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CERS4_chr19_8204370_8267421	8236691	AAAAAAAA others(4): Show AAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0063 a0001c0002t0005g0063	1	418	0.0024	-11	c.-1- others(28): Show c.-1-14381_-1-14371delAAAAAAAGAAA	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CERS4_chr19_8204370_8267421	8236695	AAAAAAAG others(4): Show AAAAAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0009 a0003c0004t0009	a0003c0004t0009g0334 a0003c0004t0009g0334	1	418	0.0024	-11	c.-1- others(28): Show c.-1-14377_-1-14367delAAAGAAAGAAA	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CERS5_chr12_50124289_50172369	50153269	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(125): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01167.hp2 HG01175.hp2 HG01243.hp1 HG01257.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01952.hp2 HG01993.hp2 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02165.hp1 HG02523.hp1 HG02615.hp1 HG02630.hp1 HG02735.hp1 HG02809.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03654.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp2 NA18906.hp2 NA18943.hp1 NA18947.hp1 NA18947.hp2 NA18953.hp2 NA18954.hp1 NA18956.hp1 NA18959.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18980.hp1 NA18981.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18992.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19054.hp1 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19078.hp2 NA19084.hp2 NA19089.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0002t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0013 others(122): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0003g0101 a0001c0001t0003g0156 a0001c0001t0003g0179 a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0094 a0001c0001t0004g0095 a0001c0001t0004g0096 a0001c0001t0004g0097 a0001c0001t0004g0098 a0001c0001t0004g0100 a0001c0001t0004g0120 a0001c0001t0004g0122 a0001c0001t0004g0126 a0001c0001t0004g0138 a0001c0001t0004g0157 a0001c0001t0004g0173 a0001c0001t0004g0184 a0001c0001t0004g0187 a0001c0001t0004g0204 a0001c0001t0004g0208 a0001c0001t0005g0088 a0001c0001t0005g0089 a0001c0001t0005g0090 a0001c0001t0007g0137 a0001c0001t0007g0139 a0001c0001t0007g0140 a0001c0001t0007g0141 a0001c0001t0007g0170 a0001c0001t0007g0171 a0001c0001t0010g0087 a0001c0001t0010g0092 a0001c0001t0010g0142 a0001c0001t0010g0209 a0001c0001t0011g0074 a0001c0001t0011g0152 a0001c0001t0013g0183 a0001c0001t0013g0186 a0001c0001t0014g0169 a0001c0002t0002g0136	128	320	0.4000	-11	c.198 others(28): Show c.198-9223_198-9213delAAAAAAAAAAA	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	1/9			chr12	TogoVar
CERS6_chr2_168451272_168780134	168631686	TATATATA others(4): Show TATATATATTTA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02486.hp1 HG02922.hp2 others(2): Show HG02145.hp2 HG02486.hp1 HG02922.hp2 HG02976.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011	a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0034 others(2): Show a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0034 a0001c0001t0010g0033 a0001c0001t0011g0112	5	176	0.0284	-11	c.465 others(26): Show c.465+647_465+657delATATATTTAAT	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CERS6_chr2_168451272_168780134	168645089	TTAAAAAA others(4): Show TTAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02559.hp1 HG02145.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0006 a0001c0001t0003g0007	2	176	0.0114	-11	c.465 others(30): Show c.465+14048_465+14058delTAAAAAAAAAA	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	4/9			chr2	TogoVar
CERS6_chr2_168451272_168780134	168744106	CGCCATTC others(4): Show CGCCATTCTCCT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02647.hp1 HG02818.hp2 others(7): Show HG02630.hp2 HG02647.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG03195.hp2 HG03486.hp2 NA19030.hp2 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0001t0019 a0001c0002t0003	a0001c0001t0001g0175 a0001c0001t0006g0008 a0001c0001t0006g0059 others(7): Show a0001c0001t0001g0175 a0001c0001t0006g0008 a0001c0001t0006g0059 a0001c0001t0006g0116 a0001c0001t0006g0129 a0001c0001t0006g0169 a0001c0001t0010g0004 a0001c0001t0010g0144 a0001c0001t0019g0163 a0001c0002t0003g0077	10	176	0.0568	-11	c.846 others(30): Show c.846-21482_846-21472delATTCTCCTGCC	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CES1_chr16_55797851_55838096	55811758	CCCTTTGG others(4): Show CCCTTTGGGATG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00408.hp1 others(42): Show HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00597.hp2 HG01070.hp2 HG01071.hp1 HG01169.hp1 HG01169.hp2 HG01256.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01891.hp2 HG02129.hp1 HG02129.hp2 HG02698.hp1 HG02735.hp2 HG02809.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp2 HG03516.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18940.hp1 NA18943.hp2 NA18951.hp2 NA18953.hp1 NA18969.hp2 NA18979.hp1 NA18979.hp2 NA19002.hp2 NA19086.hp1 NA19090.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0007	a0001c0001 a0002c0002 a0004c0004 others(2): Show a0001c0001 a0002c0002 a0004c0004 a0005c0005 a0007c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0002c0002t0002 a0004c0004t0001 a0005c0005t0001 a0005c0005t0003 a0007c0009t0001	a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 others(40): Show a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0003g0081 a0001c0001t0003g0083 a0001c0001t0004g0005 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0004c0004t0001g0002 a0004c0004t0001g0040 a0005c0005t0001g0010 a0005c0005t0003g0082 a0007c0009t0001g0048	45	87	0.5172	-11	c.108 others(28): Show c.1087-759_1087-749delCATCCCAAAGG	CES1	ENSG00000198848.13	transcript	ENST00000360526.8	protein_coding	9/13			chr16	TogoVar
CES1_chr16_55797851_55838096	55836472	TCCTAGGT others(4): Show TCCTAGGTTTTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG02735.hp1 HG03490.hp2 others(3): Show HG00438.hp1 HG02735.hp1 HG03490.hp2 HG04115.hp2 NA18943.hp1 NA18999.hp2	a0002 a0002	a0002c0002 a0002c0006 a0002c0002 a0002c0006	a0002c0002t0002 a0002c0006t0002 a0002c0002t0002 a0002c0006t0002	a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 others(3): Show a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0006t0002g0068	6	87	0.0690	-11	c.-34 others(22): Show c.-3428_-3418delCAAAACCTAGG	CES1	ENSG00000198848.13	transcript	ENST00000360526.8	protein_coding		3377		chr16	TogoVar
CETN2_chrX_152821994_152835757	152834890	GACTGAAG others(4): Show GACTGAAGGGAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	321	0.0031	-11	c.-41 others(22): Show c.-4191_-4181delATCCCTTCAGT	CETN2	ENSG00000147400.10	transcript	ENST00000370277.5	protein_coding		4134		chrX	TogoVar
CETP_chr16_56956950_56988845	56959938	GGAAAGAA others(4): Show GGAAAGAAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp2 NA19007.hp1 NA18963.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0294 a0001c0001t0001g0273 a0001c0001t0001g0294	2	462	0.0043	-11	c.-20 others(22): Show c.-2041_-2031delGAAAGAAAGAA	CETP	ENSG00000087237.12	transcript	ENST00000200676.8	protein_coding		2011		chr16	TogoVar
CETP_chr16_56956950_56988845	56964656	ACCCGCGC others(4): Show ACCCGCGCACAT	A A	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18953.hp1 NA18960.hp1 others(5): Show NA18944.hp2 NA18953.hp1 NA18960.hp1 NA19002.hp2 NA19005.hp2 NA19057.hp2 NA19060.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0001 a0001c0016t0001 a0001c0001t0001 a0001c0016t0001	a0001c0001t0001g0011 a0001c0001t0001g0258 a0001c0001t0001g0259 others(1): Show a0001c0001t0001g0011 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0016t0001g0283	8	462	0.0173	-11	c.233 others(28): Show c.233+1533_233+1543delCCCGCGCACAT	CETP	ENSG00000087237.12	transcript	ENST00000200676.8	protein_coding	2/15			chr16	TogoVar
CFAP100_chr3_126389909_126441556	126411361	GTTTTTTT others(4): Show GTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0073 a0001c0002t0001g0073	1	422	0.0024	-11	c.131 others(28): Show c.131-2708_131-2698delTTTTTTTTTTT	CFAP100	ENSG00000163885.12	transcript	ENST00000352312.6	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CFAP100_chr3_126389909_126441556	126429107	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	422	0.0024	-11	c.128 others(30): Show c.1287-3945_1287-3935delAAAAAAAAAAA	CFAP100	ENSG00000163885.12	transcript	ENST00000352312.6	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CFAP161_chr15_81129270_81154179	81133216	TATATATA others(4): Show TATATATATGTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02572.hp2 HG02280.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0086 a0001c0001t0007g0088 a0001c0001t0002g0086 a0001c0001t0007g0088	2	448	0.0045	-11	c.-11 others(22): Show c.-1113_-1103delATATATATGTA	CFAP161	ENSG00000156206.14	transcript	ENST00000286732.5	protein_coding		1053		chr15	TogoVar
CFAP206_chr6_87402972_87469465	87464715	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0025 a0001c0014t0002g0025	1	376	0.0027	-11	c.46 others(20): Show c.466_*476delTTTTTTTTTTT	CFAP206	ENSG00000272514.6	transcript	ENST00000369562.9	protein_coding		251		chr6	TogoVar
CFAP20DC_chr3_58737008_59055025	58807937	TGTGATCA others(4): Show TGTGATCAACTG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0157 a0001c0012t0002g0157	1	204	0.0049	-11	c.217 others(30): Show c.2176-1492_2176-1482delCAGTTGATCAC	CFAP20DC	ENSG00000163689.21	transcript	ENST00000482387.7	protein_coding	14/16			chr3	TogoVar
CFAP20DC_chr3_58737008_59055025	58870894	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG03139.hp2 HG03486.hp1 others(1): Show HG01934.hp1 HG03139.hp2 HG03486.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0123 others(1): Show a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0129	4	204	0.0196	-11	c.716 others(26): Show c.716-596_716-586delTTTTTTTTTTT	CFAP20DC	ENSG00000163689.21	transcript	ENST00000482387.7	protein_coding	7/16			chr3	TogoVar

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