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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Select column to sort.

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
CEP250_chr20_35450598_35524280	35465736	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01516.hp1 HG01516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0075 a0002c0002t0002g0075	1	260	0.0039	0	c.244 others(5): Show c.244-7G>A		CEP250	ENSG00000126001.17	transcript	ENST00000397527.6	protein_coding	5/34					chr20	TogoVar
CEP250_chr20_35450598_35524280	35498716	G G	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02280.hp1 HG02280.hp1	a0019 a0019	a0019c0014 a0019c0014	a0019c0014t0055 a0019c0014t0055	a0019c0014t0055g0023 a0019c0014t0055g0023	1	260	0.0039	0	c.377 others(4): Show c.3777G>T	p.Arg others(7): Show p.Arg1259Arg	CEP250	ENSG00000126001.17	transcript	ENST00000397527.6	protein_coding	27/35	4228/15434	3777/7329	1259/2442		chr20	TogoVar
CEP250_chr20_35450598_35524280	35507857	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp1 HG02109.hp1 HG02280.hp1 others(6): Show HG01891.hp1 HG02109.hp1 HG02280.hp1 HG02615.hp1 HG02622.hp2 HG02717.hp1 HG02886.hp2 HG03209.hp1 NA19030.hp1	a0003 a0019 a0003 a0019	a0003c0004 a0003c0013 a0019c0014 a0003c0004 a0003c0013 a0019c0014	a0003c0004t0007 a0003c0004t0025 a0003c0013t0007 others(1): Show a0003c0004t0007 a0003c0004t0025 a0003c0013t0007 a0019c0014t0055	a0003c0004t0007g0025 a0003c0004t0007g0026 a0003c0004t0007g0027 others(6): Show a0003c0004t0007g0025 a0003c0004t0007g0026 a0003c0004t0007g0027 a0003c0004t0007g0029 a0003c0004t0007g0030 a0003c0004t0007g0031 a0003c0004t0025g0028 a0003c0013t0007g0024 a0019c0014t0055g0023	9	260	0.0346	0	c.675 others(6): Show c.6750+6C>G		CEP250	ENSG00000126001.17	transcript	ENST00000397527.6	protein_coding	31/34					chr20	TogoVar
CEP290_chr12_88044016_88147088	88109189	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0084 a0001c0003t0001g0084	1	234	0.0043	0	c.236 others(6): Show c.2368-8C>T		CEP290	ENSG00000198707.17	transcript	ENST00000552810.6	protein_coding	22/53					chr12	TogoVar
CEP290_chr12_88044016_88147088	88111856	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01074.hp2 HG01891.hp1 HG04199.hp2 others(1): Show HG01074.hp2 HG01891.hp1 HG04199.hp2 HG04204.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0161 a0001c0008t0001g0162 a0001c0008t0001g0163 others(1): Show a0001c0008t0001g0161 a0001c0008t0001g0162 a0001c0008t0001g0163 a0001c0008t0001g0202	4	234	0.0171	0	c.205 others(4): Show c.2055T>C	p.Ala others(6): Show p.Ala685Ala	CEP290	ENSG00000198707.17	transcript	ENST00000552810.6	protein_coding	21/54	2271/7824	2055/7440	685/2479		chr12	TogoVar
CEP290_chr12_88044016_88147088	88118575	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp1 HG02647.hp1 HG02895.hp1 others(1): Show HG01884.hp1 HG02647.hp1 HG02895.hp1 HG03225.hp2	a0008 a0015 a0008 a0015	a0008c0011 a0015c0021 a0008c0011 a0015c0021	a0008c0011t0001 a0015c0021t0001 a0008c0011t0001 a0015c0021t0001	a0008c0011t0001g0017 a0008c0011t0001g0018 a0008c0011t0001g0019 others(1): Show a0008c0011t0001g0017 a0008c0011t0001g0018 a0008c0011t0001g0019 a0015c0021t0001g0020	4	234	0.0171	0	c.162 others(6): Show c.1624-5T>C		CEP290	ENSG00000198707.17	transcript	ENST00000552810.6	protein_coding	16/53					chr12	TogoVar
CEP295_chr11_93656682_93735358	93668930	C C	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(290): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(21): Show a0001 a0002 a0004 a0005 a0007 a0008 a0011 a0012 a0013 a0014 a0015 a0016 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0033	a0001c0001 a0001c0012 a0001c0013 others(32): Show a0001c0001 a0001c0012 a0001c0013 a0001c0016 a0001c0032 a0002c0002 a0004c0005 a0004c0009 a0004c0043 a0004c0047 a0005c0006 a0005c0011 a0005c0014 a0005c0026 a0005c0033 a0007c0007 a0008c0008 a0011c0020 a0012c0015 a0013c0021 a0014c0044 a0015c0035 a0016c0034 a0018c0024 a0019c0045 a0020c0025 a0021c0046 a0022c0030 a0023c0031 a0024c0028 a0025c0029 a0026c0027 a0027c0023 a0028c0022 a0033c0042	a0001c0001t0001 a0001c0012t0001 a0001c0013t0001 others(33): Show a0001c0001t0001 a0001c0012t0001 a0001c0013t0001 a0001c0016t0001 a0001c0032t0001 a0002c0002t0001 a0004c0005t0001 a0004c0005t0003 a0004c0009t0001 a0004c0043t0001 a0004c0047t0001 a0005c0006t0001 a0005c0011t0001 a0005c0014t0001 a0005c0026t0001 a0005c0033t0001 a0007c0007t0001 a0008c0008t0001 a0011c0020t0001 a0012c0015t0001 a0013c0021t0001 a0014c0044t0001 a0015c0035t0001 a0016c0034t0001 a0018c0024t0001 a0019c0045t0001 a0020c0025t0001 a0021c0046t0001 a0022c0030t0001 a0023c0031t0001 a0024c0028t0001 a0025c0029t0001 a0026c0027t0001 a0027c0023t0001 a0028c0022t0001 a0033c0042t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(262): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0012t0001g0184 a0001c0012t0001g0222 a0001c0013t0001g0206 a0001c0013t0001g0209 a0001c0016t0001g0009 a0001c0032t0001g0254 a0002c0002t0001g0001 a0002c0002t0001g0005 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0082 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0115 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0123 a0004c0005t0001g0008 a0004c0005t0001g0086 a0004c0005t0001g0091 a0004c0005t0001g0099 a0004c0005t0001g0100 a0004c0005t0001g0101 a0004c0005t0001g0103 a0004c0005t0001g0104 a0004c0005t0001g0114 a0004c0005t0001g0116 a0004c0005t0001g0251 a0004c0005t0003g0026 a0004c0009t0001g0037 a0004c0009t0001g0038 a0004c0009t0001g0124 a0004c0043t0001g0125 a0004c0047t0001g0253 a0005c0006t0001g0036 a0005c0006t0001g0040 a0005c0006t0001g0042 a0005c0006t0001g0043 a0005c0006t0001g0044 a0005c0006t0001g0062 a0005c0006t0001g0274 a0005c0006t0001g0275 a0005c0006t0001g0276 a0005c0011t0001g0246 a0005c0011t0001g0248 a0005c0014t0001g0077 a0005c0014t0001g0078 a0005c0026t0001g0045 a0005c0033t0001g0039 a0007c0007t0001g0072 a0007c0007t0001g0073 a0007c0007t0001g0075 a0007c0007t0001g0076 a0008c0008t0001g0083 a0008c0008t0001g0084 a0008c0008t0001g0085 a0008c0008t0001g0122 a0011c0020t0001g0087 a0011c0020t0001g0102 a0012c0015t0001g0015 a0012c0015t0001g0202 a0013c0021t0001g0074 a0014c0044t0001g0081 a0015c0035t0001g0061 a0016c0034t0001g0060 a0018c0024t0001g0172 a0019c0045t0001g0008 a0020c0025t0001g0010 a0021c0046t0001g0117 a0022c0030t0001g0215 a0023c0031t0001g0228 a0024c0028t0001g0041 a0025c0029t0001g0145 a0026c0027t0001g0131 a0027c0023t0001g0247 a0028c0022t0001g0250 a0033c0042t0001g0154	293	354	0.8277	0	c.432 others(3): Show c.432C>A	p.Thr others(6): Show p.Thr144Thr	CEP295	ENSG00000166004.15	transcript	ENST00000325212.11	protein_coding	4/30	551/8014	432/7806	144/2601		chr11	TogoVar
CEP295_chr11_93656682_93735358	93675562	CTT CTT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02165.hp1 NA18940.hp2 NA18941.hp1 others(11): Show HG02165.hp1 NA18940.hp2 NA18941.hp1 NA18969.hp1 NA18971.hp2 NA18975.hp2 NA18982.hp1 NA18997.hp2 NA19009.hp2 NA19060.hp2 NA19062.hp2 NA19068.hp2 NA19079.hp1 NA19086.hp1	a0006 a0017 a0006 a0017	a0006c0004 a0006c0037 a0017c0036 a0006c0004 a0006c0037 a0017c0036	a0006c0004t0001 a0006c0037t0001 a0017c0036t0001 a0006c0004t0001 a0006c0037t0001 a0017c0036t0001	a0006c0004t0001g0002 a0006c0004t0001g0027 a0006c0004t0001g0029 others(8): Show a0006c0004t0001g0002 a0006c0004t0001g0027 a0006c0004t0001g0029 a0006c0004t0001g0030 a0006c0004t0001g0031 a0006c0004t0001g0032 a0006c0004t0001g0033 a0006c0004t0001g0034 a0006c0004t0001g0035 a0006c0037t0001g0028 a0017c0036t0001g0002	14	354	0.0396	-2	c.529 others(13): Show c.529-6_529-5delTT		CEP295	ENSG00000166004.15	transcript	ENST00000325212.11	protein_coding	5/29				INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP295_chr11_93656682_93735358	93675665	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(308): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(25): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0033	a0001c0001 a0001c0012 a0001c0013 others(37): Show a0001c0001 a0001c0012 a0001c0013 a0001c0016 a0001c0032 a0002c0002 a0004c0005 a0004c0009 a0004c0043 a0004c0047 a0005c0006 a0005c0011 a0005c0014 a0005c0026 a0005c0033 a0006c0004 a0006c0037 a0007c0007 a0008c0008 a0009c0017 a0010c0018 a0011c0020 a0012c0015 a0013c0021 a0014c0044 a0015c0035 a0016c0034 a0017c0036 a0018c0024 a0019c0045 a0020c0025 a0021c0046 a0022c0030 a0023c0031 a0024c0028 a0025c0029 a0026c0027 a0027c0023 a0028c0022 a0033c0042	a0001c0001t0001 a0001c0012t0001 a0001c0013t0001 others(38): Show a0001c0001t0001 a0001c0012t0001 a0001c0013t0001 a0001c0016t0001 a0001c0032t0001 a0002c0002t0001 a0004c0005t0001 a0004c0005t0003 a0004c0009t0001 a0004c0043t0001 a0004c0047t0001 a0005c0006t0001 a0005c0011t0001 a0005c0014t0001 a0005c0026t0001 a0005c0033t0001 a0006c0004t0001 a0006c0037t0001 a0007c0007t0001 a0008c0008t0001 a0009c0017t0002 a0010c0018t0001 a0011c0020t0001 a0012c0015t0001 a0013c0021t0001 a0014c0044t0001 a0015c0035t0001 a0016c0034t0001 a0017c0036t0001 a0018c0024t0001 a0019c0045t0001 a0020c0025t0001 a0021c0046t0001 a0022c0030t0001 a0023c0031t0001 a0024c0028t0001 a0025c0029t0001 a0026c0027t0001 a0027c0023t0001 a0028c0022t0001 a0033c0042t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(277): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0012t0001g0184 a0001c0012t0001g0222 a0001c0013t0001g0206 a0001c0013t0001g0209 a0001c0016t0001g0009 a0001c0032t0001g0254 a0002c0002t0001g0001 a0002c0002t0001g0005 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0082 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0115 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0123 a0004c0005t0001g0008 a0004c0005t0001g0086 a0004c0005t0001g0091 a0004c0005t0001g0099 a0004c0005t0001g0100 a0004c0005t0001g0101 a0004c0005t0001g0103 a0004c0005t0001g0104 a0004c0005t0001g0114 a0004c0005t0001g0116 a0004c0005t0001g0251 a0004c0005t0003g0026 a0004c0009t0001g0037 a0004c0009t0001g0038 a0004c0009t0001g0124 a0004c0043t0001g0125 a0004c0047t0001g0253 a0005c0006t0001g0036 a0005c0006t0001g0040 a0005c0006t0001g0042 a0005c0006t0001g0043 a0005c0006t0001g0044 a0005c0006t0001g0062 a0005c0006t0001g0274 a0005c0006t0001g0275 a0005c0006t0001g0276 a0005c0011t0001g0246 a0005c0011t0001g0248 a0005c0014t0001g0077 a0005c0014t0001g0078 a0005c0026t0001g0045 a0005c0033t0001g0039 a0006c0004t0001g0002 a0006c0004t0001g0027 a0006c0004t0001g0029 a0006c0004t0001g0030 a0006c0004t0001g0031 a0006c0004t0001g0032 a0006c0004t0001g0033 a0006c0004t0001g0034 a0006c0004t0001g0035 a0006c0037t0001g0028 a0007c0007t0001g0072 a0007c0007t0001g0073 a0007c0007t0001g0075 a0007c0007t0001g0076 a0008c0008t0001g0083 a0008c0008t0001g0084 a0008c0008t0001g0085 a0008c0008t0001g0122 a0009c0017t0002g0310 a0009c0017t0002g0313 a0010c0018t0001g0311 a0010c0018t0001g0312 a0011c0020t0001g0087 a0011c0020t0001g0102 a0012c0015t0001g0015 a0012c0015t0001g0202 a0013c0021t0001g0074 a0014c0044t0001g0081 a0015c0035t0001g0061 a0016c0034t0001g0060 a0017c0036t0001g0002 a0018c0024t0001g0172 a0019c0045t0001g0008 a0020c0025t0001g0010 a0021c0046t0001g0117 a0022c0030t0001g0215 a0023c0031t0001g0228 a0024c0028t0001g0041 a0025c0029t0001g0145 a0026c0027t0001g0131 a0027c0023t0001g0247 a0028c0022t0001g0250 a0033c0042t0001g0154	311	354	0.8785	0	c.623 others(3): Show c.623G>A	p.Arg others(6): Show p.Arg208Gln	CEP295	ENSG00000166004.15	transcript	ENST00000325212.11	protein_coding	6/30	742/8014	623/7806	208/2601		chr11	TogoVar
CEP295_chr11_93656682_93735358	93679408	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03579.hp2 HG03579.hp2	a0030 a0030	a0030c0040 a0030c0040	a0030c0040t0004 a0030c0040t0004	a0030c0040t0004g0300 a0030c0040t0004g0300	1	354	0.0028	0	c.625 others(5): Show c.625-4C>G		CEP295	ENSG00000166004.15	transcript	ENST00000325212.11	protein_coding	6/29					chr11	TogoVar
CEP295_chr11_93656682_93735358	93728674	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18986.hp2 NA18986.hp2	a0029 a0029	a0029c0039 a0029c0039	a0029c0039t0001 a0029c0039t0001	a0029c0039t0001g0307 a0029c0039t0001g0307	1	354	0.0028	0	c.716 others(6): Show c.7162-7T>G		CEP295	ENSG00000166004.15	transcript	ENST00000325212.11	protein_coding	24/29					chr11	TogoVar
CEP295_chr11_93656682_93735358	93728675	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18986.hp2 NA18986.hp2	a0029 a0029	a0029c0039 a0029c0039	a0029c0039t0001 a0029c0039t0001	a0029c0039t0001g0307 a0029c0039t0001g0307	1	354	0.0028	0	c.716 others(6): Show c.7162-6T>G		CEP295	ENSG00000166004.15	transcript	ENST00000325212.11	protein_coding	24/29					chr11	TogoVar
CEP295_chr11_93656682_93735358	93728676	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18986.hp2 NA18986.hp2	a0029 a0029	a0029c0039 a0029c0039	a0029c0039t0001 a0029c0039t0001	a0029c0039t0001g0307 a0029c0039t0001g0307	1	354	0.0028	0	c.716 others(6): Show c.7162-5C>G		CEP295	ENSG00000166004.15	transcript	ENST00000325212.11	protein_coding	24/29					chr11	TogoVar
CEP295_chr11_93656682_93735358	93728677	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18986.hp2 NA18986.hp2	a0029 a0029	a0029c0039 a0029c0039	a0029c0039t0001 a0029c0039t0001	a0029c0039t0001g0307 a0029c0039t0001g0307	1	354	0.0028	0	c.716 others(6): Show c.7162-4A>G		CEP295	ENSG00000166004.15	transcript	ENST00000325212.11	protein_coding	24/29					chr11	TogoVar
CEP295_chr11_93656682_93735358	93728678	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18986.hp2 NA18986.hp2	a0029 a0029	a0029c0039 a0029c0039	a0029c0039t0001 a0029c0039t0001	a0029c0039t0001g0307 a0029c0039t0001g0307	1	354	0.0028	0	c.716 others(6): Show c.7162-3C>G		CEP295	ENSG00000166004.15	transcript	ENST00000325212.11	protein_coding	24/29					chr11	TogoVar
CEP295_chr11_93656682_93735358	93728681	G G	GGGGGGGG others(37): Show GGGGGGGGGGGAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGT	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	NA18986.hp2 NA18986.hp2	a0029 a0029	a0029c0039 a0029c0039	a0029c0039t0001 a0029c0039t0001	a0029c0039t0001g0307 a0029c0039t0001g0307	1	354	0.0028	44	c.716 others(53): Show c.7162_7163insGGGGGGGGGGAGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGT	p.Glu others(6): Show p.Glu2388fs	CEP295	ENSG00000166004.15	transcript	ENST00000325212.11	protein_coding	25/30	7282/8014	7163/7806	2388/2601		chr11	TogoVar
CEP295_chr11_93656682_93735358	93729603	T T	TC TC	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01099.hp1 HG02165.hp1 HG03579.hp1 others(13): Show HG01099.hp1 HG02165.hp1 HG03579.hp1 NA18940.hp2 NA18941.hp1 NA18969.hp1 NA18971.hp2 NA18975.hp2 NA18982.hp1 NA18997.hp2 NA19009.hp2 NA19060.hp2 NA19062.hp2 NA19068.hp2 NA19079.hp1 NA19086.hp1	a0006 a0009 a0017 a0006 a0009 a0017	a0006c0004 a0006c0037 a0009c0017 others(1): Show a0006c0004 a0006c0037 a0009c0017 a0017c0036	a0006c0004t0001 a0006c0037t0001 a0009c0017t0002 others(1): Show a0006c0004t0001 a0006c0037t0001 a0009c0017t0002 a0017c0036t0001	a0006c0004t0001g0002 a0006c0004t0001g0027 a0006c0004t0001g0029 others(10): Show a0006c0004t0001g0002 a0006c0004t0001g0027 a0006c0004t0001g0029 a0006c0004t0001g0030 a0006c0004t0001g0031 a0006c0004t0001g0032 a0006c0004t0001g0033 a0006c0004t0001g0034 a0006c0004t0001g0035 a0006c0037t0001g0028 a0009c0017t0002g0310 a0009c0017t0002g0313 a0017c0036t0001g0002	16	354	0.0452	1	c.740 others(7): Show c.7400-6dupC		CEP295	ENSG00000166004.15	transcript	ENST00000325212.11	protein_coding	26/29				INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP295_chr11_93656682_93735358	93730151	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02055.hp2 HG02055.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0062 a0005c0006t0001g0062	1	354	0.0028	0	c.776 others(6): Show c.7767+3G>A		CEP295	ENSG00000166004.15	transcript	ENST00000325212.11	protein_coding	29/29					chr11	TogoVar
CEP350_chr1_179949810_180119875	179992229	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01258.hp1 HG01928.hp2 NA18946.hp2 others(4): Show HG01258.hp1 HG01928.hp2 NA18946.hp2 NA18953.hp1 NA18967.hp1 NA19055.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0196 others(4): Show a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0217	7	248	0.0282	0	c.395 others(5): Show c.395+8T>C		CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	5/37					chr1	TogoVar
CEP350_chr1_179949810_180119875	180044045	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01074.hp2 HG02723.hp2 HG02818.hp2 others(6): Show HG01074.hp2 HG02723.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG03195.hp2 NA21309.hp2	a0006 a0009 a0006 a0009	a0006c0006 a0009c0010 a0006c0006 a0009c0010	a0006c0006t0002 a0009c0010t0002 a0006c0006t0002 a0009c0010t0002	a0006c0006t0002g0041 a0006c0006t0002g0228 a0006c0006t0002g0229 others(6): Show a0006c0006t0002g0041 a0006c0006t0002g0228 a0006c0006t0002g0229 a0006c0006t0002g0230 a0006c0006t0002g0231 a0006c0006t0002g0232 a0009c0010t0002g0238 a0009c0010t0002g0239 a0009c0010t0002g0240	9	248	0.0363	0	c.450 others(6): Show c.4500-6T>C		CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	20/37					chr1	TogoVar
CEP350_chr1_179949810_180119875	180053172	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA20752.hp2 NA20752.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0103 a0003c0003t0002g0103	1	248	0.0040	0	c.498 others(6): Show c.4989+6T>C		CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	23/37					chr1	TogoVar
CEP350_chr1_179949810_180119875	180078682	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show HG00558.hp2 HG00597.hp1 HG00738.hp1 HG01109.hp2 HG01168.hp1 HG01169.hp1 HG02129.hp1 HG02257.hp2 HG02572.hp1 HG02647.hp1 HG02886.hp1 HG03098.hp2 HG03130.hp1 HG03516.hp1 HG03579.hp2 NA18522.hp2 NA18948.hp2 NA19081.hp2	a0002 a0017 a0002 a0017	a0002c0002 a0017c0021 a0002c0002 a0017c0021	a0002c0002t0004 a0002c0002t0015 a0002c0002t0020 others(1): Show a0002c0002t0004 a0002c0002t0015 a0002c0002t0020 a0017c0021t0004	a0002c0002t0004g0020 a0002c0002t0004g0021 a0002c0002t0004g0022 others(15): Show a0002c0002t0004g0020 a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 a0002c0002t0004g0024 a0002c0002t0004g0025 a0002c0002t0004g0026 a0002c0002t0004g0027 a0002c0002t0004g0028 a0002c0002t0004g0029 a0002c0002t0004g0030 a0002c0002t0004g0032 a0002c0002t0004g0033 a0002c0002t0004g0035 a0002c0002t0004g0036 a0002c0002t0015g0019 a0002c0002t0020g0034 a0017c0021t0004g0031	18	248	0.0726	0	c.597 others(6): Show c.5979+8A>C		CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	29/37					chr1	TogoVar
CEP41_chr7_130388771_130446016	130411196	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0129 a0001c0001t0003g0129	1	346	0.0029	0	c.208 others(5): Show c.208-5A>G		CEP41	ENSG00000106477.20	transcript	ENST00000223208.10	protein_coding	4/10					chr7	TogoVar
CEP41_chr7_130388771_130446016	130412181	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0284 a0001c0005t0001g0284	1	346	0.0029	0	c.205 others(3): Show c.205C>T	p.Leu others(5): Show p.Leu69Leu	CEP41	ENSG00000106477.20	transcript	ENST00000223208.10	protein_coding	4/11	255/6292	205/1122	69/373		chr7	TogoVar
CEP43_chr6_166994397_167057718	167003725	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00597.hp2 HG00597.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0090 a0006c0007t0090	a0006c0007t0090g0198 a0006c0007t0090g0198	1	376	0.0027	0	c.214 others(3): Show c.214C>T	p.Arg others(5): Show p.Arg72Cys	CEP43	ENSG00000213066.14	transcript	ENST00000366847.9	protein_coding	4/13	230/13956	214/1200	72/399		chr6	TogoVar
CEP43_chr6_166994397_167057718	167010805	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(107): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00438.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01993.hp2 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02486.hp1 HG02523.hp2 HG02572.hp1 HG02630.hp2 HG02647.hp1 HG02738.hp2 HG02809.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG03041.hp1 HG03130.hp1 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03710.hp2 HG03927.hp2 HG04199.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp2 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18965.hp2 NA18972.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18978.hp1 NA18979.hp1 NA18982.hp1 NA18988.hp1 NA18994.hp2 NA18997.hp1 NA18999.hp2 NA19003.hp1 NA19004.hp2 NA19011.hp2 NA19043.hp1 NA19056.hp2 NA19062.hp1 NA19063.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19077.hp1 NA19078.hp1 NA19079.hp2 NA19080.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19089.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0006 a0005c0005 a0001c0001 a0001c0006 a0005c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(51): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0017 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0029 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0084 a0001c0001t0147 a0001c0001t0148 a0001c0001t0149 a0001c0001t0150 a0001c0001t0151 a0001c0001t0152 a0001c0001t0153 a0001c0001t0154 a0001c0001t0155 a0001c0001t0156 a0001c0001t0157 a0001c0001t0158 a0001c0001t0159 a0001c0001t0160 a0001c0001t0161 a0001c0001t0162 a0001c0001t0163 a0001c0001t0164 a0001c0001t0165 a0001c0001t0166 a0001c0001t0167 a0001c0001t0168 a0001c0001t0169 a0001c0001t0170 a0001c0001t0171 a0001c0001t0172 a0001c0001t0173 a0001c0001t0174 a0001c0001t0175 a0001c0001t0176 a0001c0001t0177 a0001c0001t0178 a0001c0001t0179 a0001c0006t0047 a0005c0005t0019 a0005c0005t0074 a0005c0005t0088	a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0009 others(101): Show a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0218 a0001c0001t0002g0227 a0001c0001t0002g0237 a0001c0001t0002g0241 a0001c0001t0002g0246 a0001c0001t0002g0249 a0001c0001t0002g0256 a0001c0001t0002g0267 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0003g0006 a0001c0001t0003g0043 a0001c0001t0003g0045 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0224 a0001c0001t0003g0230 a0001c0001t0003g0236 a0001c0001t0003g0240 a0001c0001t0003g0242 a0001c0001t0003g0258 a0001c0001t0005g0041 a0001c0001t0005g0044 a0001c0001t0005g0046 a0001c0001t0005g0216 a0001c0001t0005g0228 a0001c0001t0005g0229 a0001c0001t0006g0223 a0001c0001t0006g0238 a0001c0001t0006g0257 a0001c0001t0006g0263 a0001c0001t0006g0264 a0001c0001t0006g0265 a0001c0001t0017g0009 a0001c0001t0017g0215 a0001c0001t0017g0266 a0001c0001t0022g0007 a0001c0001t0022g0254 a0001c0001t0023g0019 a0001c0001t0023g0222 a0001c0001t0023g0268 a0001c0001t0024g0009 a0001c0001t0024g0219 a0001c0001t0024g0234 a0001c0001t0025g0231 a0001c0001t0025g0244 a0001c0001t0025g0255 a0001c0001t0029g0279 a0001c0001t0029g0281 a0001c0001t0045g0243 a0001c0001t0045g0252 a0001c0001t0046g0019 a0001c0001t0046g0278 a0001c0001t0047g0262 a0001c0001t0071g0193 a0001c0001t0072g0195 a0001c0001t0073g0194 a0001c0001t0084g0280 a0001c0001t0147g0250 a0001c0001t0148g0006 a0001c0001t0149g0217 a0001c0001t0150g0247 a0001c0001t0151g0275 a0001c0001t0152g0042 a0001c0001t0153g0007 a0001c0001t0154g0007 a0001c0001t0155g0253 a0001c0001t0156g0164 a0001c0001t0157g0248 a0001c0001t0158g0226 a0001c0001t0159g0047 a0001c0001t0160g0221 a0001c0001t0161g0233 a0001c0001t0162g0232 a0001c0001t0163g0019 a0001c0001t0164g0259 a0001c0001t0165g0251 a0001c0001t0166g0239 a0001c0001t0167g0261 a0001c0001t0168g0245 a0001c0001t0169g0276 a0001c0001t0170g0041 a0001c0001t0171g0220 a0001c0001t0172g0260 a0001c0001t0173g0277 a0001c0001t0174g0235 a0001c0001t0175g0225 a0001c0001t0176g0272 a0001c0001t0177g0273 a0001c0001t0178g0006 a0001c0001t0179g0274 a0001c0006t0047g0049 a0005c0005t0019g0040 a0005c0005t0019g0213 a0005c0005t0074g0212 a0005c0005t0088g0214	110	376	0.2926	0	c.439 others(5): Show c.439-8T>C		CEP43	ENSG00000213066.14	transcript	ENST00000366847.9	protein_coding	5/12					chr6	TogoVar
CEP44_chr4_174278911_174325328	174303856	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0171 a0002c0002t0005g0171	1	388	0.0026	0	c.384 others(5): Show c.384+7T>G		CEP44	ENSG00000164118.13	transcript	ENST00000503780.6	protein_coding	5/11					chr4	TogoVar
CEP55_chr10_93491612_93534092	93506985	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18977.hp2 NA18977.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0140 a0004c0004t0002g0140	1	386	0.0026	0	c.460 others(5): Show c.460-3C>T		CEP55	ENSG00000138180.16	transcript	ENST00000371485.8	protein_coding	3/8					chr10	TogoVar
CEP55_chr10_93491612_93534092	93516935	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01243.hp2 HG02145.hp2 HG02257.hp1 others(13): Show HG01243.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02572.hp2 HG02615.hp2 HG02723.hp1 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp2 NA19030.hp2 NA19240.hp1	a0007 a0015 a0017 a0007 a0015 a0017	a0007c0007 a0015c0016 a0017c0021 a0007c0007 a0015c0016 a0017c0021	a0007c0007t0003 a0007c0007t0006 a0015c0016t0002 others(2): Show a0007c0007t0003 a0007c0007t0006 a0015c0016t0002 a0015c0016t0004 a0017c0021t0002	a0007c0007t0003g0009 a0007c0007t0003g0054 a0007c0007t0003g0056 others(9): Show a0007c0007t0003g0009 a0007c0007t0003g0054 a0007c0007t0003g0056 a0007c0007t0003g0057 a0007c0007t0003g0064 a0007c0007t0003g0206 a0007c0007t0003g0214 a0007c0007t0006g0058 a0007c0007t0006g0194 a0015c0016t0002g0196 a0015c0016t0004g0049 a0017c0021t0002g0055	16	386	0.0415	0	c.680 others(3): Show c.680G>A	p.Gly others(6): Show p.Gly227Asp	CEP55	ENSG00000138180.16	transcript	ENST00000371485.8	protein_coding	6/9	1004/2658	680/1395	227/464		chr10	TogoVar
CEP57L1_chr6_109090507_109179418	109150237	C C	T T	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	HG02630.hp1 HG02630.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0077 a0006c0008t0077	a0006c0008t0077g0212 a0006c0008t0077g0212	1	228	0.0044	0	c.460 others(3): Show c.460C>T	p.Gln others(4): Show p.Gln154*	CEP57L1	ENSG00000183137.16	transcript	ENST00000517392.6	protein_coding	4/11	532/12903	460/1383	154/460		chr6	TogoVar
CEP57L1_chr6_109090507_109179418	109155232	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02896.hp1 HG03486.hp1 NA19043.hp1 others(1): Show HG02896.hp1 HG03486.hp1 NA19043.hp1 NA21309.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0008 a0004c0004t0001 a0004c0004t0008	a0004c0004t0001g0136 a0004c0004t0001g0137 a0004c0004t0001g0152 others(1): Show a0004c0004t0001g0136 a0004c0004t0001g0137 a0004c0004t0001g0152 a0004c0004t0008g0132	4	228	0.0175	0	c.582 others(3): Show c.582C>A	p.Asp others(6): Show p.Asp194Glu	CEP57L1	ENSG00000183137.16	transcript	ENST00000517392.6	protein_coding	6/11	654/12903	582/1383	194/460		chr6	TogoVar
CEP57_chr11_95785498_95837693	95821986	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18950.hp1 NA18970.hp2 NA19062.hp1 NA18950.hp1 NA18970.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099	3	340	0.0088	0	c.807 others(5): Show c.807+8G>A		CEP57	ENSG00000166037.11	transcript	ENST00000325542.10	protein_coding	7/10					chr11	TogoVar
CEP63_chr3_134481057_134570031	134486207	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0312 a0001c0001t0002g0312	1	322	0.0031	0	c.-26 others(5): Show c.-26+5C>T		CEP63	ENSG00000182923.20	transcript	ENST00000675561.1	protein_coding	1/14					chr3	TogoVar
CEP63_chr3_134481057_134570031	134537268	G G	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00280.hp1 HG00280.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0003 a0004c0007t0003	a0004c0007t0003g0186 a0004c0007t0003g0186	1	322	0.0031	0	c.555 others(3): Show c.555G>C	p.Gln others(6): Show p.Gln185His	CEP63	ENSG00000182923.20	transcript	ENST00000675561.1	protein_coding	6/15	726/5779	555/2112	185/703		chr3	TogoVar
CEP63_chr3_134481057_134570031	134547479	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00140.hp2 HG00544.hp2 others(95): Show HG00099.hp1 HG00140.hp2 HG00544.hp2 HG00558.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01099.hp1 HG01106.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG01346.hp1 HG01496.hp1 HG01981.hp2 HG02055.hp1 HG02074.hp1 HG02083.hp1 HG02109.hp2 HG02145.hp1 HG02155.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03195.hp2 HG03490.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03942.hp2 HG04184.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18947.hp2 NA18949.hp1 NA18955.hp2 NA18960.hp2 NA18965.hp2 NA18967.hp1 NA18968.hp1 NA18972.hp1 NA18981.hp2 NA18982.hp2 NA18984.hp2 NA18999.hp2 NA19003.hp1 NA19006.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19054.hp1 NA19056.hp1 NA19057.hp2 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19074.hp1 NA19076.hp2 NA19084.hp2 NA19086.hp2 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0012 a0001c0001 a0006c0012	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0006c0012t0016	a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0009 others(90): Show a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0041 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0101 a0001c0001t0002g0104 a0001c0001t0002g0312 a0001c0001t0004g0001 a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0052 a0001c0001t0004g0089 a0001c0001t0004g0094 a0001c0001t0004g0095 a0001c0001t0004g0096 a0001c0001t0004g0102 a0001c0001t0004g0118 a0001c0001t0004g0295 a0001c0001t0006g0005 a0001c0001t0006g0072 a0001c0001t0006g0073 a0001c0001t0006g0079 a0001c0001t0006g0080 a0001c0001t0006g0081 a0001c0001t0006g0082 a0001c0001t0011g0109 a0001c0001t0011g0110 a0001c0001t0011g0111 a0001c0001t0014g0032 a0001c0001t0014g0033 a0001c0001t0017g0034 a0001c0001t0018g0030 a0006c0012t0016g0093	98	322	0.3044	0	c.106 others(6): Show c.1067+7A>G		CEP63	ENSG00000182923.20	transcript	ENST00000675561.1	protein_coding	9/14					chr3	TogoVar
CEP63_chr3_134481057_134570031	134550059	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19006.hp2 NA19066.hp1 NA19006.hp2 NA19066.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0260 a0002c0002t0001g0262 a0002c0002t0001g0260 a0002c0002t0001g0262	2	322	0.0062	0	c.118 others(6): Show c.1183-4A>G		CEP63	ENSG00000182923.20	transcript	ENST00000675561.1	protein_coding	10/14					chr3	TogoVar
CEP63_chr3_134481057_134570031	134559428	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00099.hp2 HG00323.hp1 HG00423.hp2 others(82): Show HG00099.hp2 HG00323.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00735.hp1 HG00738.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01168.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01516.hp1 HG01884.hp2 HG01934.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02273.hp2 HG02300.hp1 HG02523.hp2 HG02698.hp1 HG02723.hp2 HG03239.hp2 HG03540.hp1 HG03831.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 NA18612.hp2 NA18939.hp1 NA18940.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18955.hp1 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18972.hp2 NA18974.hp1 NA18978.hp1 NA18981.hp1 NA18986.hp1 NA18988.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19012.hp2 NA19054.hp2 NA19056.hp2 NA19060.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp2 NA19074.hp2 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19090.hp2 NA20752.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0005 a0002c0011 a0002c0002 a0002c0005 a0002c0011	a0002c0002t0001 a0002c0002t0022 a0002c0002t0026 others(2): Show a0002c0002t0001 a0002c0002t0022 a0002c0002t0026 a0002c0005t0001 a0002c0011t0001	a0002c0002t0001g0002 a0002c0002t0001g0103 a0002c0002t0001g0209 others(80): Show 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	85	322	0.2640	0	c.195 others(4): Show c.1952C>T	p.Ser others(6): Show p.Ser651Leu	CEP63	ENSG00000182923.20	transcript	ENST00000675561.1	protein_coding	14/15	2123/5779	1952/2112	651/703		chr3	TogoVar
CEP68_chr2_65051416_65092004	65069395	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02148.hp2 HG02148.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0093 a0002c0002t0002g0093	1	360	0.0028	0	c.-46 others(5): Show c.-46-4G>T		CEP68	ENSG00000011523.15	transcript	ENST00000377990.7	protein_coding	1/6					chr2	TogoVar
CEP70_chr3_138489344_138599260	138591851	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01243.hp1 HG01243.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0004 a0006c0010t0004	a0006c0010t0004g0023 a0006c0010t0004g0023	1	318	0.0031	0	c.-6+ others(4): Show c.-6+3A>G		CEP70	ENSG00000114107.9	transcript	ENST00000264982.8	protein_coding	2/17					chr3	TogoVar
CEP72_chr5_607340_658553	647920	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	91	0.0110	0	c.177 others(6): Show c.1778+4C>G		CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11					chr5	TogoVar
CEP76_chr18_12667625_12707723	12699913	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	380	0.0026	0	c.220 others(5): Show c.220-8C>T		CEP76	ENSG00000101624.11	transcript	ENST00000262127.7	protein_coding	2/11					chr18	TogoVar
CEP78_chr9_78231075_78284690	78236611	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00438.hp1 HG00438.hp2 others(83): Show HG00099.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00621.hp1 HG00639.hp2 HG00733.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01433.hp2 HG01516.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02056.hp2 HG02109.hp2 HG02132.hp2 HG02155.hp1 HG02280.hp1 HG02300.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02622.hp2 HG02630.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG02896.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03225.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03942.hp2 HG04115.hp1 NA18941.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18961.hp1 NA18969.hp2 NA18971.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18985.hp1 NA18991.hp2 NA18992.hp2 NA18993.hp1 NA18995.hp1 NA19011.hp1 NA19063.hp1 NA19064.hp2 NA19068.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19086.hp2 NA20129.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0006 a0001c0002 a0004c0006	a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 others(19): Show a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0002t0022 a0001c0002t0024 a0001c0002t0025 a0001c0002t0026 a0001c0002t0043 a0001c0002t0044 a0001c0002t0045 a0001c0002t0050 a0001c0002t0051 a0001c0002t0052 a0001c0002t0053 a0001c0002t0057 a0001c0002t0058 a0001c0002t0059 a0001c0002t0079 a0001c0002t0081 a0001c0002t0083 a0001c0002t0085 a0004c0006t0002	a0001c0002t0002g0002 a0001c0002t0002g0010 a0001c0002t0002g0011 others(69): Show a0001c0002t0002g0002 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0039 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0047 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0090 a0001c0002t0005g0005 a0001c0002t0005g0067 a0001c0002t0005g0068 a0001c0002t0005g0088 a0001c0002t0007g0051 a0001c0002t0022g0002 a0001c0002t0022g0052 a0001c0002t0024g0010 a0001c0002t0024g0077 a0001c0002t0025g0042 a0001c0002t0025g0055 a0001c0002t0026g0002 a0001c0002t0026g0075 a0001c0002t0043g0005 a0001c0002t0044g0089 a0001c0002t0045g0005 a0001c0002t0050g0048 a0001c0002t0051g0074 a0001c0002t0052g0041 a0001c0002t0053g0010 a0001c0002t0057g0038 a0001c0002t0058g0084 a0001c0002t0059g0076 a0001c0002t0079g0011 a0001c0002t0081g0040 a0001c0002t0083g0066 a0001c0002t0085g0046 a0004c0006t0002g0021	86	340	0.2529	0	c.253 others(5): Show c.253+8G>A		CEP78	ENSG00000148019.14	transcript	ENST00000643273.2	protein_coding	1/16					chr9	TogoVar
CEP78_chr9_78231075_78284690	78243456	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01255.hp1 HG02257.hp2 HG02559.hp2 others(9): Show HG01255.hp1 HG02257.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02723.hp2 HG02818.hp2 HG03209.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp1 NA19043.hp1	a0001 a0005 a0001 a0005	a0001c0004 a0005c0012 a0001c0004 a0005c0012	a0001c0004t0014 a0001c0004t0023 a0001c0004t0028 others(5): Show a0001c0004t0014 a0001c0004t0023 a0001c0004t0028 a0001c0004t0046 a0001c0004t0054 a0001c0004t0062 a0001c0004t0080 a0005c0012t0023	a0001c0004t0014g0023 a0001c0004t0014g0030 a0001c0004t0014g0115 others(8): Show a0001c0004t0014g0023 a0001c0004t0014g0030 a0001c0004t0014g0115 a0001c0004t0023g0213 a0001c0004t0028g0219 a0001c0004t0028g0220 a0001c0004t0046g0221 a0001c0004t0054g0119 a0001c0004t0062g0222 a0001c0004t0080g0030 a0005c0012t0023g0116	12	340	0.0353	0	c.604 others(5): Show c.604-6T>G		CEP78	ENSG00000148019.14	transcript	ENST00000643273.2	protein_coding	4/16					chr9	TogoVar
CEP78_chr9_78231075_78284690	78248353	G G	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18906.hp2 NA18906.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0073 a0003c0008t0073	a0003c0008t0073g0161 a0003c0008t0073g0161	1	340	0.0029	0	c.955 others(3): Show c.955G>C	p.Glu others(6): Show p.Glu319Gln	CEP78	ENSG00000148019.14	transcript	ENST00000643273.2	protein_coding	7/17	1231/11233	955/2118	319/705		chr9	TogoVar
CEP83_chr12_94302698_94464867	94435325	T T	C C	splice_region_variant splice_region_variant	LOW	HG00099.hp2 HG01192.hp2 HG01361.hp2 others(4): Show HG00099.hp2 HG01192.hp2 HG01361.hp2 HG01496.hp1 HG02698.hp2 HG03688.hp2 NA20805.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0005	a0003c0005t0005g0354 a0003c0005t0005g0355 a0003c0005t0005g0356 others(4): Show a0003c0005t0005g0354 a0003c0005t0005g0355 a0003c0005t0005g0356 a0003c0005t0005g0357 a0003c0005t0005g0358 a0003c0005t0005g0359 a0003c0005t0005g0360	7	364	0.0192	0	c.-15 others(4): Show c.-152A>G		CEP83	ENSG00000173588.16	transcript	ENST00000397809.10	protein_coding	2/17					chr12	TogoVar
CEP85_chr1_26229200_26283808	26244166	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01192.hp2 HG01192.hp2	a0006 a0006	a0006c0018 a0006c0018	a0006c0018t0003 a0006c0018t0003	a0006c0018t0003g0123 a0006c0018t0003g0123	1	342	0.0029	0	c.56G others(2): Show c.56G>T	p.Ser others(5): Show p.Ser19Ile	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding	3/14	189/3934	56/2286	19/761		chr1	TogoVar
CEP85_chr1_26229200_26283808	26259619	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0011 a0001c0016t0011	a0001c0016t0011g0324 a0001c0016t0011g0324	1	342	0.0029	0	c.115 others(4): Show c.1158A>G	p.Glu others(6): Show p.Glu386Glu	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding	7/14	1291/3934	1158/2286	386/761		chr1	TogoVar
CEP85_chr1_26229200_26283808	26272017	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02622.hp2 HG02896.hp2 HG02622.hp2 HG02896.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0322 a0003c0005t0004g0323 a0003c0005t0004g0322 a0003c0005t0004g0323	2	342	0.0059	0	c.174 others(6): Show c.1744-4T>G		CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding	10/13					chr1	TogoVar
CEP85_chr1_26229200_26283808	26275079	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(27): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00733.hp1 HG00741.hp1 HG01361.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG02004.hp2 HG02486.hp2 HG02572.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG03041.hp1 HG03195.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03710.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 NA18522.hp2 NA19030.hp2 NA19080.hp1	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0001 a0003c0003 a0003c0005 others(3): Show a0001c0001 a0003c0003 a0003c0005 a0003c0007 a0003c0008 a0010c0017	a0001c0001t0002 a0003c0003t0004 a0003c0003t0006 others(4): Show a0001c0001t0002 a0003c0003t0004 a0003c0003t0006 a0003c0005t0004 a0003c0007t0004 a0003c0008t0004 a0010c0017t0004	a0001c0001t0002g0033 a0003c0003t0004g0300 a0003c0003t0004g0301 others(27): Show a0001c0001t0002g0033 a0003c0003t0004g0300 a0003c0003t0004g0301 a0003c0003t0004g0302 a0003c0003t0004g0303 a0003c0003t0004g0304 a0003c0003t0004g0305 a0003c0003t0004g0307 a0003c0003t0004g0310 a0003c0003t0004g0311 a0003c0003t0004g0312 a0003c0003t0004g0313 a0003c0003t0004g0314 a0003c0003t0004g0316 a0003c0003t0004g0317 a0003c0003t0004g0318 a0003c0003t0004g0319 a0003c0003t0004g0325 a0003c0003t0006g0093 a0003c0003t0006g0094 a0003c0003t0006g0095 a0003c0003t0006g0096 a0003c0005t0004g0297 a0003c0005t0004g0322 a0003c0005t0004g0323 a0003c0007t0004g0320 a0003c0007t0004g0321 a0003c0008t0004g0308 a0003c0008t0004g0309 a0010c0017t0004g0306	30	342	0.0877	0	c.190 others(6): Show c.1902+8A>G		CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding	12/13					chr1	TogoVar
CEP89_chr19_32870925_32976958	32948261	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0031 a0001c0002t0031	a0001c0002t0031g0053 a0001c0002t0031g0053	1	386	0.0026	0	c.595 others(5): Show c.595+5A>G		CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	5/18					chr19	TogoVar

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