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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
CEP126_chr11_101910010_102006062	101938159	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG03195.hp1 HG04184.hp2 others(1): Show HG01516.hp2 HG03195.hp1 HG04184.hp2 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0023 a0001c0001t0028 others(1): Show a0001c0001t0004 a0001c0001t0023 a0001c0001t0028 a0001c0001t0056	a0001c0001t0004g0296 a0001c0001t0023g0285 a0001c0001t0028g0287 others(1): Show a0001c0001t0004g0296 a0001c0001t0023g0285 a0001c0001t0028g0287 a0001c0001t0056g0186	4	336	0.0119	11	c.249 others(28): Show c.249-6099_249-6089dupAAAAAAAAAAA	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101998592	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00408.hp1 others(169): Show HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00639.hp2 HG00642.hp2 HG00738.hp2 HG00741.hp1 HG01081.hp2 HG01109.hp1 HG01123.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp2 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18942.hp1 NA18943.hp1 NA18947.hp2 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18960.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18975.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18984.hp2 NA18986.hp1 NA18987.hp2 NA18989.hp1 NA18990.hp1 NA18993.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19077.hp2 NA19078.hp1 NA19085.hp2 NA19088.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0009 a0011 a0012	a0001c0001 a0001c0002 a0001c0009 others(6): Show a0001c0001 a0001c0002 a0001c0009 a0001c0013 a0003c0004 a0004c0005 a0009c0016 a0011c0017 a0012c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0018 a0001c0001t0019 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0032 a0001c0001t0039 a0001c0001t0041 a0001c0001t0045 a0001c0001t0056 a0001c0001t0057 a0001c0001t0063 a0001c0002t0001 a0001c0002t0014 a0001c0002t0019 a0001c0002t0044 a0001c0002t0046 a0001c0009t0055 a0001c0009t0064 a0001c0013t0002 a0003c0004t0010 a0003c0004t0021 a0003c0004t0038 a0003c0004t0053 a0004c0005t0001 a0009c0016t0002 a0011c0017t0001 a0012c0015t0035	a0001c0001t0001g0005 a0001c0001t0001g0037 a0001c0001t0001g0046 others(167): Show a0001c0001t0001g0005 a0001c0001t0001g0037 a0001c0001t0001g0046 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0002g0051 a0001c0001t0002g0054 a0001c0001t0002g0079 a0001c0001t0002g0117 a0001c0001t0002g0138 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0189 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0224 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0235 a0001c0001t0002g0237 a0001c0001t0002g0239 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0252 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0258 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0266 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0271 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0284 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0291 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0009g0008 a0001c0001t0009g0298 a0001c0001t0009g0299 a0001c0001t0009g0300 a0001c0001t0009g0301 a0001c0001t0018g0188 a0001c0001t0018g0272 a0001c0001t0019g0047 a0001c0001t0024g0190 a0001c0001t0024g0257 a0001c0001t0025g0202 a0001c0001t0025g0225 a0001c0001t0026g0053 a0001c0001t0026g0259 a0001c0001t0027g0209 a0001c0001t0027g0236 a0001c0001t0028g0238 a0001c0001t0028g0287 a0001c0001t0032g0140 a0001c0001t0032g0142 a0001c0001t0039g0313 a0001c0001t0041g0122 a0001c0001t0045g0005 a0001c0001t0056g0186 a0001c0001t0057g0187 a0001c0001t0063g0131 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0154 a0001c0002t0001g0156 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0177 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0262 a0001c0002t0001g0326 a0001c0002t0014g0195 a0001c0002t0014g0197 a0001c0002t0014g0280 a0001c0002t0019g0162 a0001c0002t0044g0264 a0001c0002t0046g0170 a0001c0009t0055g0304 a0001c0009t0064g0010 a0001c0013t0002g0250 a0003c0004t0010g0009 a0003c0004t0010g0307 a0003c0004t0010g0308 a0003c0004t0010g0322 a0003c0004t0021g0315 a0003c0004t0021g0321 a0003c0004t0038g0314 a0003c0004t0053g0320 a0004c0005t0001g0096 a0009c0016t0002g0229 a0011c0017t0001g0095 a0012c0015t0035g0032	172	336	0.5119	11	c.95 others(20): Show c.957_*967dupAAAAAAAAAAA	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	11/11	968	INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP128_chr14_80491479_80946738	80563524	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0130 a0001c0001t0002g0130	1	164	0.0061	11	c.285 others(30): Show c.2857-4233_2857-4223dupAAAAAAAAAAA	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	20/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80596819	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02280.hp1 HG02572.hp1 others(3): Show HG02145.hp2 HG02280.hp1 HG02572.hp1 HG02886.hp1 HG02970.hp1 HG03710.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0012c0020 a0001c0001 a0012c0020	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0012c0020t0004	a0001c0001t0001g0023 a0001c0001t0004g0094 a0001c0001t0005g0011 others(3): Show a0001c0001t0001g0023 a0001c0001t0004g0094 a0001c0001t0005g0011 a0001c0001t0005g0058 a0001c0001t0005g0059 a0012c0020t0004g0163	6	164	0.0366	11	c.280 others(32): Show c.2807-16407_2807-16397dupTTTTTTTTTTT	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80617219	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02559.hp1 HG02615.hp2 others(1): Show HG02109.hp2 HG02559.hp1 HG02615.hp2 NA19030.hp1	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0006	a0001c0001 a0004c0004 a0005c0005 others(1): Show a0001c0001 a0004c0004 a0005c0005 a0006c0007	a0001c0001t0004 a0004c0004t0003 a0005c0005t0001 others(1): Show a0001c0001t0004 a0004c0004t0003 a0005c0005t0001 a0006c0007t0004	a0001c0001t0004g0162 a0004c0004t0003g0140 a0005c0005t0001g0055 others(1): Show a0001c0001t0004g0162 a0004c0004t0003g0140 a0005c0005t0001g0055 a0006c0007t0004g0147	4	164	0.0244	11	c.280 others(32): Show c.2807-36807_2807-36797dupAAAAAAAAAAA	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80642089	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01192.hp1 HG01261.hp2 others(33): Show HG01123.hp2 HG01192.hp1 HG01261.hp2 HG01515.hp2 HG01891.hp1 HG01934.hp1 HG02004.hp2 HG02080.hp2 HG02132.hp1 HG02165.hp1 HG02615.hp2 HG02738.hp1 HG02886.hp2 HG02965.hp1 HG03195.hp2 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp2 NA18522.hp2 NA18906.hp2 NA18947.hp2 NA18952.hp2 NA18979.hp2 NA18980.hp2 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19012.hp2 NA19060.hp2 NA19079.hp1 NA19079.hp2 NA20300.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0008 a0013	a0001c0001 a0001c0015 a0001c0022 others(5): Show a0001c0001 a0001c0015 a0001c0022 a0002c0002 a0002c0006 a0004c0004 a0008c0011 a0013c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0015t0001 a0001c0022t0005 a0002c0002t0003 a0002c0002t0004 a0002c0006t0003 a0004c0004t0003 a0004c0004t0008 a0004c0004t0012 a0008c0011t0002 a0013c0021t0007	a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(33): Show a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0045 a0001c0001t0002g0099 a0001c0001t0002g0124 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0002g0157 a0001c0001t0005g0009 a0001c0001t0006g0100 a0001c0001t0006g0110 a0001c0001t0006g0111 a0001c0001t0006g0114 a0001c0001t0006g0155 a0001c0015t0001g0048 a0001c0022t0005g0015 a0002c0002t0003g0066 a0002c0002t0003g0068 a0002c0002t0003g0079 a0002c0002t0004g0070 a0002c0002t0004g0072 a0002c0002t0004g0074 a0002c0006t0003g0096 a0002c0006t0003g0097 a0004c0004t0003g0140 a0004c0004t0008g0071 a0004c0004t0012g0103 a0008c0011t0002g0109 a0008c0011t0002g0121 a0013c0021t0007g0088	36	164	0.2195	11	c.280 others(32): Show c.2807-61677_2807-61667dupTTTTTTTTTTT	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80673645	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02559.hp2 HG02572.hp1 others(4): Show HG02145.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02809.hp2 HG03098.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0002 a0001c0001 a0001c0009 a0002c0002	a0001c0001t0004 a0001c0001t0005 a0001c0009t0006 others(2): Show a0001c0001t0004 a0001c0001t0005 a0001c0009t0006 a0002c0002t0003 a0002c0002t0010	a0001c0001t0004g0094 a0001c0001t0004g0159 a0001c0001t0005g0054 others(4): Show a0001c0001t0004g0094 a0001c0001t0004g0159 a0001c0001t0005g0054 a0001c0001t0005g0059 a0001c0009t0006g0153 a0002c0002t0003g0089 a0002c0002t0010g0010	7	164	0.0427	11	c.280 others(32): Show c.2806+69419_2806+69429dupTTTTTTTTTTT	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80678049	A A	AAAAATAT others(4): Show AAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02818.hp1 HG02572.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0053 a0001c0001t0005g0054 a0001c0001t0005g0053 a0001c0001t0005g0054	2	164	0.0122	11	c.280 others(32): Show c.2806+65025_2806+65026insATATATATTTT	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80678049	A A	AAATATAT others(4): Show AAATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0001 a0010c0017t0001	a0010c0017t0001g0007 a0010c0017t0001g0007	1	164	0.0061	11	c.280 others(32): Show c.2806+65025_2806+65026insATATATATATT	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80729058	G G	GTGTGTGT others(4): Show GTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA20300.hp1 HG02559.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0003 a0001c0001t0002 a0002c0002t0003	a0001c0001t0002g0132 a0002c0002t0003g0089 a0001c0001t0002g0132 a0002c0002t0003g0089	2	164	0.0122	11	c.280 others(32): Show c.2806+14016_2806+14017insACACACACACA	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80740500	A A	AGATAGAT others(4): Show AGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0058 a0001c0001t0005g0058	1	164	0.0061	11	c.280 others(30): Show c.2806+2564_2806+2574dupATCTATCTATC	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80810323	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02165.hp2 HG02818.hp1 others(2): Show HG02040.hp2 HG02165.hp2 HG02818.hp1 HG03710.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0023 a0001c0001t0001g0040 a0001c0001t0005g0042 others(2): Show a0001c0001t0001g0023 a0001c0001t0001g0040 a0001c0001t0005g0042 a0001c0001t0005g0043 a0001c0001t0005g0053	5	164	0.0305	11	c.121 others(32): Show c.1210-17224_1210-17214dupTTTTTTTTTTT	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	13/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80935646	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG00735.hp2 others(1): Show HG00642.hp1 HG00642.hp2 HG00735.hp2 NA18947.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0001c0001t0006 a0003c0003t0002 a0001c0001t0002 a0001c0001t0006 a0003c0003t0002	a0001c0001t0002g0134 a0001c0001t0006g0118 a0001c0001t0006g0119 others(1): Show a0001c0001t0002g0134 a0001c0001t0006g0118 a0001c0001t0006g0119 a0003c0003t0002g0120	4	164	0.0244	11	c.-16 others(28): Show c.-16+3728_-16+3738dupTTTTTTTTTTT	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	2/24			chr14	TogoVar
CEP135_chr4_55943945_56038361	55961764	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	346	0.0029	11	c.699 others(28): Show c.699+2019_699+2029dupAAAAAAAAAAA	CEP135	ENSG00000174799.12	transcript	ENST00000257287.5	protein_coding	6/25		INFO_REALIGN_3_PRIME	chr4	TogoVar
CEP152_chr15_48732938_48816069	48741130	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01099.hp1 HG01884.hp2 others(23): Show HG00140.hp2 HG01099.hp1 HG01884.hp2 HG01891.hp1 HG02080.hp1 HG02258.hp1 HG02451.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02738.hp1 HG03041.hp2 HG03209.hp1 HG03239.hp1 HG03453.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp2 HG03927.hp1 HG04115.hp1 NA18941.hp1 NA18949.hp2 NA18979.hp1 NA19000.hp2 NA19062.hp1	a0001 a0002 a0007 others(3): Show a0001 a0002 a0007 a0018 a0021 a0027	a0001c0001 a0001c0009 a0001c0024 others(5): Show a0001c0001 a0001c0009 a0001c0024 a0002c0002 a0007c0006 a0018c0025 a0021c0026 a0027c0031	a0001c0001t0001 a0001c0001t0002 a0001c0009t0005 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0009t0005 a0001c0024t0001 a0002c0002t0002 a0007c0006t0001 a0018c0025t0001 a0021c0026t0001 a0027c0031t0002	a0001c0001t0001g0017 a0001c0001t0001g0064 a0001c0001t0001g0092 others(23): Show a0001c0001t0001g0017 a0001c0001t0001g0064 a0001c0001t0001g0092 a0001c0001t0001g0101 a0001c0001t0001g0123 a0001c0001t0001g0132 a0001c0001t0002g0292 a0001c0001t0002g0300 a0001c0001t0002g0304 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0009t0005g0022 a0001c0009t0005g0023 a0001c0024t0001g0138 a0002c0002t0002g0255 a0002c0002t0002g0277 a0007c0006t0001g0018 a0007c0006t0001g0019 a0007c0006t0001g0026 a0018c0025t0001g0231 a0021c0026t0001g0131 a0027c0031t0002g0321	26	342	0.0760	11	c.409 others(28): Show c.4093+460_4093+470dupAAAAAAAAAAA	CEP152	ENSG00000103995.14	transcript	ENST00000380950.7	protein_coding	26/26			chr15	TogoVar
CEP152_chr15_48732938_48816069	48787163	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	342	0.0029	11	c.117 others(30): Show c.1173+1627_1173+1637dupAAAAAAAAAAA	CEP152	ENSG00000103995.14	transcript	ENST00000380950.7	protein_coding	9/26			chr15	TogoVar
CEP162_chr6_84119250_84232643	84159547	A A	ATATATAT others(4): Show ATATATATATTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0005 a0001c0008t0005	a0001c0008t0005g0205 a0001c0008t0005g0205	1	214	0.0047	11	c.278 others(30): Show c.2781+1264_2781+1265insAAATATATATA	CEP162	ENSG00000135315.12	transcript	ENST00000403245.8	protein_coding	21/26			chr6	TogoVar
CEP164_chr11_117322854_117418266	117337510	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(62): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00639.hp1 HG00741.hp1 HG01106.hp1 HG01167.hp1 HG01261.hp2 HG01358.hp1 HG01433.hp2 HG01928.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02083.hp2 HG02135.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02818.hp1 HG02896.hp2 HG02922.hp1 HG02970.hp2 HG03098.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03831.hp1 HG03834.hp1 HG04184.hp2 HG04228.hp1 NA18522.hp2 NA18906.hp2 NA18960.hp1 NA18964.hp1 NA18972.hp2 NA18979.hp2 NA18980.hp2 NA19002.hp1 NA19003.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp2 NA19080.hp1 NA19085.hp1 NA19240.hp1 NA20300.hp2	a0002 a0003 a0005 others(5): Show a0002 a0003 a0005 a0009 a0012 a0013 a0014 a0015	a0002c0001 a0003c0003 a0003c0022 others(6): Show a0002c0001 a0003c0003 a0003c0022 a0005c0006 a0009c0020 a0012c0016 a0013c0018 a0014c0019 a0015c0017	a0002c0001t0001 a0003c0003t0002 a0003c0003t0004 others(10): Show a0002c0001t0001 a0003c0003t0002 a0003c0003t0004 a0003c0003t0005 a0003c0003t0011 a0003c0003t0017 a0003c0022t0005 a0005c0006t0008 a0009c0020t0014 a0012c0016t0004 a0013c0018t0014 a0014c0019t0004 a0015c0017t0004	a0002c0001t0001g0056 a0003c0003t0002g0128 a0003c0003t0004g0006 others(60): Show a0002c0001t0001g0056 a0003c0003t0002g0128 a0003c0003t0004g0006 a0003c0003t0004g0034 a0003c0003t0004g0035 a0003c0003t0004g0052 a0003c0003t0004g0074 a0003c0003t0004g0098 a0003c0003t0004g0100 a0003c0003t0004g0101 a0003c0003t0004g0102 a0003c0003t0004g0103 a0003c0003t0004g0104 a0003c0003t0004g0105 a0003c0003t0004g0106 a0003c0003t0004g0107 a0003c0003t0004g0108 a0003c0003t0004g0109 a0003c0003t0004g0110 a0003c0003t0004g0111 a0003c0003t0004g0112 a0003c0003t0004g0113 a0003c0003t0004g0114 a0003c0003t0004g0115 a0003c0003t0004g0120 a0003c0003t0004g0121 a0003c0003t0004g0124 a0003c0003t0004g0125 a0003c0003t0004g0126 a0003c0003t0004g0127 a0003c0003t0004g0129 a0003c0003t0004g0130 a0003c0003t0004g0131 a0003c0003t0004g0133 a0003c0003t0004g0136 a0003c0003t0004g0137 a0003c0003t0004g0138 a0003c0003t0004g0139 a0003c0003t0004g0140 a0003c0003t0004g0223 a0003c0003t0004g0224 a0003c0003t0004g0225 a0003c0003t0004g0226 a0003c0003t0004g0228 a0003c0003t0004g0229 a0003c0003t0004g0230 a0003c0003t0004g0231 a0003c0003t0005g0007 a0003c0003t0005g0116 a0003c0003t0005g0117 a0003c0003t0005g0118 a0003c0003t0005g0309 a0003c0003t0011g0119 a0003c0003t0011g0123 a0003c0003t0011g0232 a0003c0003t0017g0233 a0003c0022t0005g0227 a0005c0006t0008g0045 a0009c0020t0014g0327 a0012c0016t0004g0122 a0013c0018t0014g0269 a0014c0019t0004g0051 a0015c0017t0004g0182	65	390	0.1667	11	c.-21 others(28): Show c.-21-1052_-21-1042dupAAAAAAAAAAA	CEP164	ENSG00000110274.16	transcript	ENST00000278935.8	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP164_chr11_117322854_117418266	117416446	A A	AAAAAAAA others(4): Show AAAAAAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00438.hp1 others(65): Show HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG01069.hp1 HG01071.hp1 HG01243.hp1 HG01993.hp2 HG02040.hp1 HG02080.hp2 HG02258.hp2 HG02723.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG03017.hp1 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG04184.hp1 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18940.hp2 NA18945.hp1 NA18946.hp2 NA18950.hp2 NA18954.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18999.hp1 NA19004.hp1 NA19012.hp1 NA19043.hp1 NA19057.hp2 NA19062.hp1 NA19067.hp1 NA19067.hp2 NA19078.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19240.hp2 NA21309.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0018	a0001c0002 a0001c0005 a0002c0001 others(3): Show a0001c0002 a0001c0005 a0002c0001 a0002c0038 a0005c0006 a0018c0039	a0001c0002t0003 a0001c0005t0005 a0002c0001t0003 others(5): Show a0001c0002t0003 a0001c0005t0005 a0002c0001t0003 a0002c0001t0009 a0002c0001t0024 a0002c0038t0003 a0005c0006t0008 a0018c0039t0009	a0001c0002t0003g0177 a0001c0005t0005g0032 a0002c0001t0003g0002 others(60): Show a0001c0002t0003g0177 a0001c0005t0005g0032 a0002c0001t0003g0002 a0002c0001t0003g0010 a0002c0001t0003g0012 a0002c0001t0003g0066 a0002c0001t0003g0092 a0002c0001t0003g0095 a0002c0001t0003g0097 a0002c0001t0003g0134 a0002c0001t0003g0135 a0002c0001t0003g0176 a0002c0001t0003g0178 a0002c0001t0003g0179 a0002c0001t0003g0185 a0002c0001t0003g0186 a0002c0001t0003g0190 a0002c0001t0003g0191 a0002c0001t0003g0194 a0002c0001t0003g0195 a0002c0001t0003g0197 a0002c0001t0003g0198 a0002c0001t0003g0199 a0002c0001t0003g0201 a0002c0001t0003g0202 a0002c0001t0003g0204 a0002c0001t0003g0205 a0002c0001t0003g0206 a0002c0001t0003g0207 a0002c0001t0003g0208 a0002c0001t0003g0209 a0002c0001t0003g0211 a0002c0001t0003g0212 a0002c0001t0003g0213 a0002c0001t0003g0214 a0002c0001t0003g0215 a0002c0001t0003g0216 a0002c0001t0003g0217 a0002c0001t0003g0218 a0002c0001t0003g0219 a0002c0001t0003g0220 a0002c0001t0003g0221 a0002c0001t0003g0222 a0002c0001t0003g0234 a0002c0001t0003g0258 a0002c0001t0003g0259 a0002c0001t0003g0260 a0002c0001t0003g0261 a0002c0001t0003g0262 a0002c0001t0003g0264 a0002c0001t0003g0325 a0002c0001t0003g0354 a0002c0001t0003g0356 a0002c0001t0003g0363 a0002c0001t0003g0364 a0002c0001t0003g0365 a0002c0001t0009g0184 a0002c0001t0009g0256 a0002c0001t0009g0257 a0002c0001t0024g0089 a0002c0038t0003g0203 a0005c0006t0008g0045 a0018c0039t0009g0200	68	390	0.1744	11	c.42 others(22): Show c.4278_*4279insAAAAAAAAAAG	CEP164	ENSG00000110274.16	transcript	ENST00000278935.8	protein_coding		3181		chr11	TogoVar
CEP170_chr1_243119428_243260281	243178308	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	303	0.0033	11	c.156 others(30): Show c.1567-5473_1567-5463dupTTTTTTTTTTT	CEP170	ENSG00000143702.16	transcript	ENST00000366542.6	protein_coding	10/19			chr1	TogoVar
CEP192_chr18_12986362_13130036	13000091	C C	CTCTCTTT others(4): Show CTCTCTTTTTTT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG03516.hp1 NA18990.hp2 others(3): Show HG02523.hp2 HG03516.hp1 NA18990.hp2 NA19010.hp2 NA19076.hp2 NA19079.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0330 a0002c0001t0001g0331 a0002c0001t0001g0332 others(3): Show a0002c0001t0001g0330 a0002c0001t0001g0331 a0002c0001t0001g0332 a0002c0001t0001g0352 a0002c0001t0001g0353 a0002c0001t0001g0360	6	392	0.0153	11	c.164 others(26): Show c.164+504_164+505insCTCTTTTTTTT	CEP192	ENSG00000101639.19	transcript	ENST00000506447.5	protein_coding	2/44		INFO_REALIGN_3_PRIME	chr18	TogoVar
CEP192_chr18_12986362_13130036	13014792	C C	CATATATA others(4): Show CATATATATGTA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03041.hp2 HG03453.hp1 HG02258.hp2 HG03041.hp2 HG03453.hp1	a0013 a0013	a0013c0016 a0013c0029 a0013c0016 a0013c0029	a0013c0016t0003 a0013c0029t0003 a0013c0016t0003 a0013c0029t0003	a0013c0016t0003g0216 a0013c0016t0003g0217 a0013c0029t0003g0215 a0013c0016t0003g0216 a0013c0016t0003g0217 a0013c0029t0003g0215	3	392	0.0077	11	c.520 others(26): Show c.520-526_520-516dupTAATATATATG	CEP192	ENSG00000101639.19	transcript	ENST00000506447.5	protein_coding	5/44		INFO_REALIGN_3_PRIME	chr18	TogoVar
CEP19_chr3_196701277_196717250	196703298	C C	CGGAGGAG others(4): Show CGGAGGAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	432	0.0023	11	c.42 others(22): Show c.4252_*4253insCCTCCTCCTCC	CEP19	ENSG00000174007.9	transcript	ENST00000409690.5	protein_coding		2978		chr3	TogoVar
CEP20_chr16_15860719_15893603	15882803	A A	ACACACAC others(4): Show ACACACACACAC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0077 a0002c0002t0004g0077	1	433	0.0023	11	c.226 others(28): Show c.226+1204_226+1205insGTGTGTGTGTG	CEP20	ENSG00000133393.13	transcript	ENST00000255759.11	protein_coding	2/4			chr16	TogoVar
CEP20_chr16_15860719_15893603	15890556	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00621.hp2 HG01123.hp2 others(9): Show HG00423.hp1 HG00621.hp2 HG01123.hp2 HG01192.hp1 HG01884.hp2 HG02886.hp2 HG03579.hp2 HG03831.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA19089.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0004 a0003c0003t0004 a0001c0001t0001 a0002c0002t0004 a0003c0003t0004	a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0088 others(7): Show a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0088 a0001c0001t0001g0218 a0002c0002t0004g0009 a0002c0002t0004g0033 a0002c0002t0004g0072 a0002c0002t0004g0086 a0002c0002t0004g0096 a0003c0003t0004g0030	12	433	0.0277	11	c.-19 others(22): Show c.-1972_-1971insTTTTTTTTTTT	CEP20	ENSG00000133393.13	transcript	ENST00000255759.11	protein_coding		1954		chr16	TogoVar
CEP20_chr16_15860719_15893603	15890580	A A	AAAAAAAA others(4): Show AAAAAAAAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0076 a0002c0002t0004g0076	1	433	0.0023	11	c.-19 others(22): Show c.-1996_-1995insCTTTTTTTTTT	CEP20	ENSG00000133393.13	transcript	ENST00000255759.11	protein_coding		1978		chr16	TogoVar
CEP20_chr16_15860719_15893603	15891798	T T	TTTCTTTC others(4): Show TTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	433	0.0023	11	c.-32 others(22): Show c.-3214_-3213insGAAAGAAAGAA	CEP20	ENSG00000133393.13	transcript	ENST00000255759.11	protein_coding		3196		chr16	TogoVar
CEP250_chr20_35450598_35524280	35451050	A A	ATATATAT others(4): Show ATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01106.hp1 HG01109.hp1 others(4): Show HG01070.hp1 HG01106.hp1 HG01109.hp1 HG02818.hp2 HG02965.hp1 NA18949.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0014 a0001c0001t0001 a0001c0001t0013 a0001c0001t0014	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0160 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0172 a0001c0001t0013g0166 a0001c0001t0014g0236	7	260	0.0269	11	c.-49 others(22): Show c.-4999_-4998insTATATATATAT	CEP250	ENSG00000126001.17	transcript	ENST00000397527.6	protein_coding		4547		chr20	TogoVar
CEP250_chr20_35450598_35524280	35451052	A A	ATATATAT others(4): Show ATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0037 a0001c0028t0037	a0001c0028t0037g0232 a0001c0028t0037g0232	1	260	0.0039	11	c.-49 others(22): Show c.-4997_-4996insTATATATATAT	CEP250	ENSG00000126001.17	transcript	ENST00000397527.6	protein_coding		4545		chr20	TogoVar
CEP295_chr11_93656682_93735358	93672932	G G	GGTACTTT others(4): Show GGTACTTTAACT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0004 a0004	a0004c0043 a0004c0043	a0004c0043t0001 a0004c0043t0001	a0004c0043t0001g0125 a0004c0043t0001g0125	1	354	0.0028	11	c.529 others(28): Show c.529-2630_529-2629insCTGTACTTTAA	CEP295	ENSG00000166004.15	transcript	ENST00000325212.11	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP350_chr1_179949810_180119875	180090557	A A	AAAAAAAA others(4): Show AAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	248	0.0040	11	c.642 others(28): Show c.6426-147_6426-146insGAAAAAAAAAA	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	32/37		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP350_chr1_179949810_180119875	180090558	A A	AAAAAAAA others(4): Show AAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	248	0.0040	11	c.642 others(28): Show c.6426-146_6426-145insGAAAAAAAAAA	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	32/37		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP41_chr7_130388771_130446016	130392391	C C	CACACACA others(4): Show CACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0180 a0001c0001t0011g0180	1	346	0.0029	11	c.64 others(22): Show c.6499_*6500insTGTGTGTGTGT	CEP41	ENSG00000106477.20	transcript	ENST00000223208.10	protein_coding		1379		chr7	TogoVar
CEP43_chr6_166994397_167057718	167040749	T T	TATTCAGT others(4): Show TATTCAGTACCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(166): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02145.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02486.hp1 HG02523.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02738.hp2 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03710.hp2 HG03927.hp2 HG03942.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18963.hp2 NA18965.hp2 NA18970.hp2 NA18972.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19003.hp1 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19062.hp1 NA19063.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp2 NA19080.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19089.hp1 NA19090.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0001c0006 a0002c0002 others(3): Show a0001c0001 a0001c0006 a0002c0002 a0003c0003 a0005c0005 a0006c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(88): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0017 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 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 a0002c0002t0015 a0002c0002t0035 a0002c0002t0036 a0002c0002t0091 a0002c0002t0092 a0002c0002t0093 a0002c0002t0094 a0002c0002t0095 a0002c0002t0096 a0002c0002t0097 a0002c0002t0098 a0002c0002t0099 a0002c0002t0100 a0002c0002t0101 a0002c0002t0102 a0002c0002t0103 a0003c0003t0009 a0003c0003t0081 a0003c0003t0082 a0003c0003t0083 a0005c0005t0019 a0005c0005t0074 a0005c0005t0088 a0006c0007t0090	a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0009 others(154): 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 a0001c0001t0008g0018 a0001c0001t0008g0033 a0001c0001t0008g0188 a0001c0001t0010g0002 a0001c0001t0010g0031 a0001c0001t0010g0032 a0001c0001t0010g0180 a0001c0001t0010g0190 a0001c0001t0017g0009 a0001c0001t0017g0215 a0001c0001t0017g0266 a0001c0001t0022g0007 a0001c0001t0022g0254 a0001c0001t0023g0019 a0001c0001t0023g0222 a0001c0001t0023g0268 a0001c0001t0024g0009 a0001c0001t0024g0219 a0001c0001t0024g0234 a0001c0001t0025g0231 a0001c0001t0025g0244 a0001c0001t0025g0255 a0001c0001t0029g0279 a0001c0001t0029g0281 a0001c0001t0030g0031 a0001c0001t0030g0189 a0001c0001t0031g0002 a0001c0001t0031g0187 a0001c0001t0032g0002 a0001c0001t0033g0002 a0001c0001t0033g0183 a0001c0001t0034g0002 a0001c0001t0045g0243 a0001c0001t0045g0252 a0001c0001t0046g0019 a0001c0001t0046g0278 a0001c0001t0047g0262 a0001c0001t0071g0193 a0001c0001t0072g0195 a0001c0001t0073g0194 a0001c0001t0075g0184 a0001c0001t0076g0181 a0001c0001t0077g0018 a0001c0001t0078g0186 a0001c0001t0079g0185 a0001c0001t0080g0179 a0001c0001t0084g0280 a0001c0001t0085g0002 a0001c0001t0086g0182 a0001c0001t0087g0032 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 a0002c0002t0015g0037 a0002c0002t0015g0038 a0002c0002t0015g0039 a0002c0002t0015g0203 a0002c0002t0035g0200 a0002c0002t0035g0209 a0002c0002t0036g0037 a0002c0002t0036g0202 a0002c0002t0091g0039 a0002c0002t0092g0206 a0002c0002t0093g0201 a0002c0002t0094g0211 a0002c0002t0095g0207 a0002c0002t0096g0208 a0002c0002t0097g0204 a0002c0002t0098g0196 a0002c0002t0099g0197 a0002c0002t0100g0205 a0002c0002t0101g0210 a0002c0002t0102g0038 a0002c0002t0103g0199 a0003c0003t0009g0035 a0003c0003t0009g0036 a0003c0003t0009g0191 a0003c0003t0081g0034 a0003c0003t0082g0034 a0003c0003t0083g0192 a0005c0005t0019g0040 a0005c0005t0019g0213 a0005c0005t0074g0212 a0005c0005t0088g0214 a0006c0007t0090g0198	169	376	0.4495	11	c.77 others(20): Show c.772_*773insTTCAGTACCAA	CEP43	ENSG00000213066.14	transcript	ENST00000366847.9	protein_coding	13/13	773	INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP44_chr4_174278911_174325328	174291782	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00673.hp1 HG02055.hp2 others(1): Show HG00609.hp1 HG00673.hp1 HG02055.hp2 HG03710.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0086 a0002c0002t0004g0087 a0002c0002t0004g0088 others(1): Show a0002c0002t0004g0086 a0002c0002t0004g0087 a0002c0002t0004g0088 a0002c0002t0004g0089	4	388	0.0103	11	c.-14 others(30): Show c.-147-6180_-147-6179insTTTTTTTTTTT	CEP44	ENSG00000164118.13	transcript	ENST00000503780.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
CEP57L1_chr6_109090507_109179418	109174109	A A	AAAAAAAA others(4): Show AAAAAAAAAAAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01123.hp2 HG01891.hp1 HG02486.hp2 others(3): Show HG01123.hp2 HG01891.hp1 HG02486.hp2 HG02738.hp1 HG03130.hp1 HG03453.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0005 a0002c0002 a0003c0005	a0002c0002t0071 a0002c0002t0073 a0002c0002t0078 others(3): Show a0002c0002t0071 a0002c0002t0073 a0002c0002t0078 a0002c0002t0084 a0003c0005t0032 a0003c0005t0034	a0002c0002t0071g0012 a0002c0002t0073g0001 a0002c0002t0078g0205 others(3): Show a0002c0002t0071g0012 a0002c0002t0073g0001 a0002c0002t0078g0205 a0002c0002t0084g0011 a0003c0005t0032g0004 a0003c0005t0034g0208	6	228	0.0263	11	c.11 others(24): Show c.11144_*11145insAAAAACAAAAA	CEP57L1	ENSG00000183137.16	transcript	ENST00000517392.6	protein_coding	11/11	11145	INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP57_chr11_95785498_95837693	95828064	T T	TCGAAACA others(4): Show TCGAAACATTGG	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0088 a0004c0009t0001g0088	1	340	0.0029	11	c.112 others(26): Show c.1127+38_1127+39insGAAACATTGGC	CEP57	ENSG00000166037.11	transcript	ENST00000325542.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP63_chr3_134481057_134570031	134528594	G G	GTGTGTGT others(4): Show GTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0262 a0002c0002t0001g0262	1	322	0.0031	11	c.223 others(28): Show c.223-3251_223-3250insTGTGTGTGTGT	CEP63	ENSG00000182923.20	transcript	ENST00000675561.1	protein_coding	3/14			chr3	TogoVar
CEP63_chr3_134481057_134570031	134557376	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00741.hp1 HG01169.hp1 others(20): Show HG00423.hp1 HG00741.hp1 HG01169.hp1 HG01243.hp1 HG02145.hp2 HG02258.hp1 HG02559.hp1 HG02630.hp1 HG02723.hp1 HG02922.hp1 HG03139.hp2 HG03209.hp2 HG03486.hp2 HG06807.hp2 NA18978.hp2 NA18982.hp1 NA18994.hp2 NA18998.hp2 NA19000.hp2 NA19076.hp1 NA19082.hp1 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0009 a0001c0001t0015 others(3): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0015 a0001c0003t0001 a0001c0003t0003 a0001c0004t0003	a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0133 others(20): Show a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0142 a0001c0001t0001g0221 a0001c0001t0009g0097 a0001c0001t0009g0098 a0001c0001t0009g0100 a0001c0001t0015g0144 a0001c0001t0015g0145 a0001c0003t0001g0134 a0001c0003t0001g0143 a0001c0003t0001g0146 a0001c0003t0001g0147 a0001c0003t0001g0150 a0001c0003t0003g0166 a0001c0003t0003g0189 a0001c0003t0003g0195 a0001c0003t0003g0196 a0001c0003t0003g0198 a0001c0003t0003g0200 a0001c0004t0003g0190 a0001c0004t0003g0192	23	322	0.0714	11	c.146 others(28): Show c.1468-748_1468-738dupTTTTTTTTTTT	CEP63	ENSG00000182923.20	transcript	ENST00000675561.1	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
CEP68_chr2_65051416_65092004	65089702	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0247 a0006c0008t0001g0247	1	360	0.0028	11	c.60 others(22): Show c.6068_*6069insTTTTTTTTTTT	CEP68	ENSG00000011523.15	transcript	ENST00000377990.7	protein_coding		2699		chr2	TogoVar
CEP70_chr3_138489344_138599260	138587620	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00558.hp2 others(93): Show HG00408.hp2 HG00544.hp1 HG00558.hp2 HG00621.hp2 HG00738.hp2 HG01123.hp2 HG01255.hp2 HG01346.hp1 HG01496.hp2 HG01884.hp1 HG02027.hp1 HG02040.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp1 HG02129.hp1 HG02135.hp2 HG02165.hp2 HG02257.hp2 HG02280.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03453.hp1 HG03490.hp2 HG03492.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04204.hp1 HG06807.hp1 NA18612.hp2 NA18747.hp2 NA18941.hp1 NA18942.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18956.hp1 NA18961.hp2 NA18965.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18973.hp2 NA18975.hp1 NA18979.hp1 NA18982.hp1 NA18983.hp1 NA18990.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA19005.hp2 NA19007.hp1 NA19012.hp1 NA19043.hp2 NA19054.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19077.hp2 NA19078.hp1 NA19079.hp2 NA19084.hp2 NA19086.hp1 NA19089.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0004 a0002c0002 others(2): Show a0001c0001 a0001c0004 a0002c0002 a0002c0012 a0005c0008	a0001c0001t0001 a0001c0004t0006 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0004t0006 a0002c0002t0001 a0002c0002t0002 a0002c0012t0002 a0005c0008t0001	a0001c0001t0001g0191 a0001c0004t0006g0029 a0001c0004t0006g0032 others(81): Show a0001c0001t0001g0191 a0001c0004t0006g0029 a0001c0004t0006g0032 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0002g0002 a0002c0002t0002g0006 a0002c0002t0002g0007 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0033 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0229 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0249 a0002c0002t0002g0250 a0002c0002t0002g0251 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0258 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0261 a0002c0002t0002g0262 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0002g0265 a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0012t0002g0268 a0005c0008t0001g0190	96	318	0.3019	11	c.-6+ others(26): Show c.-6+4233_-6+4234insTTTTTTTTTTT	CEP70	ENSG00000114107.9	transcript	ENST00000264982.8	protein_coding	2/17			chr3	TogoVar
CEP72_chr5_607340_658553	649190	G G	GTGAGGTG others(4): Show GTGAGGTGTGAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	91	0.0110	11	c.177 others(30): Show c.1778+1277_1778+1287dupAGGTGTGACTG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP72_chr5_607340_658553	651211	G G	GTGAGGTG others(4): Show GTGAGGTGTGAC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0071 a0002c0002t0001g0071	1	91	0.0110	11	c.177 others(30): Show c.1779-1772_1779-1771insTGTGACTGAGG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP76_chr18_12667625_12707723	12668597	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01516.hp1 HG03017.hp1 HG01109.hp2 HG01516.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0120 a0001c0001t0001g0125 a0001c0001t0001g0128	3	380	0.0079	11	c.47 others(22): Show c.4757_*4767dupTTTTTTTTTTT	CEP76	ENSG00000101624.11	transcript	ENST00000262127.7	protein_coding		4027		chr18	TogoVar
CEP76_chr18_12667625_12707723	12705604	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 NA18980.hp1 HG01361.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0224 a0001c0001t0002g0225	2	380	0.0053	11	c.-30 others(22): Show c.-3057_-3056insCACACACACAC	CEP76	ENSG00000101624.11	transcript	ENST00000262127.7	protein_coding		2882		chr18	TogoVar
CEP78_chr9_78231075_78284690	78235110	T T	TCTTCCAC others(4): Show TCTTCCACTTAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0096 a0001c0001t0096	a0001c0001t0096g0123 a0001c0001t0096g0123	1	340	0.0029	11	c.-12 others(22): Show c.-1241_-1240insCTTCCACTTAG	CEP78	ENSG00000148019.14	transcript	ENST00000643273.2	protein_coding		964		chr9	TogoVar
CEP78_chr9_78231075_78284690	78236969	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0046 a0001c0004t0046	a0001c0004t0046g0221 a0001c0004t0046g0221	1	340	0.0029	11	c.253 others(26): Show c.253+385_253+395dupTTTTTTTTTTT	CEP78	ENSG00000148019.14	transcript	ENST00000643273.2	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEP78_chr9_78231075_78284690	78279066	G G	GAAAAAAA others(4): Show GAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0251 a0001c0001t0038g0251	1	340	0.0029	11	c.82 others(22): Show c.8219_*8229dupAAAAAAAAAAA	CEP78	ENSG00000148019.14	transcript	ENST00000643273.2	protein_coding	17/17	8230	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEP83_chr12_94302698_94464867	94331289	G G	GAAAAAAA others(4): Show GAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA18612.hp1 HG01934.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0092 a0001c0001t0001g0025 a0001c0001t0001g0092	2	364	0.0055	11	c.170 others(28): Show c.1707+400_1707+410dupTTTTTTTTTTT	CEP83	ENSG00000173588.16	transcript	ENST00000397809.10	protein_coding	14/16			chr12	TogoVar
CEP83_chr12_94302698_94464867	94331302	A A	AAAAAAAA others(4): Show AAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01109.hp1 HG02630.hp2 others(14): Show HG00733.hp2 HG01109.hp1 HG02630.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03516.hp2 HG03540.hp1 NA18906.hp2 NA19030.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0006 a0004c0007 a0001c0001 a0001c0006 a0004c0007	a0001c0001t0001 a0001c0001t0003 a0001c0006t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0006t0001 a0004c0007t0001	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(14): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0057 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0003g0344 a0001c0001t0003g0346 a0001c0001t0003g0347 a0001c0001t0003g0348 a0001c0001t0003g0361 a0001c0006t0001g0110 a0001c0006t0001g0111 a0004c0007t0001g0103 a0004c0007t0001g0104 a0004c0007t0001g0105	17	364	0.0467	11	c.170 others(28): Show c.1707+397_1707+398insCTTTTTTTTTT	CEP83	ENSG00000173588.16	transcript	ENST00000397809.10	protein_coding	14/16			chr12	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)