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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
AP1S3_chr2_223750326_223842582	223835080	G G	GTAAAAGT others(9): Show GTAAAAGTATGTATTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00639.hp2 others(78): Show HG00099.hp1 HG00140.hp2 HG00639.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01884.hp2 HG01891.hp1 HG02109.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02622.hp2 HG02698.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03669.hp2 HG03710.hp1 HG03831.hp2 NA18522.hp2 NA18950.hp1 NA18957.hp1 NA18963.hp2 NA18975.hp1 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18991.hp1 NA19007.hp2 NA19054.hp1 NA19057.hp2 NA19079.hp1 NA19086.hp2 NA19087.hp1 NA19089.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0028 a0001c0001t0029 a0001c0001t0037 a0001c0001t0042 a0001c0001t0044 a0001c0001t0047 a0001c0001t0053 a0001c0001t0054 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0065 a0001c0001t0066 a0001c0001t0071 a0001c0001t0072 a0001c0003t0034	a0001c0001t0001g0001 a0001c0001t0001g0110 a0001c0001t0001g0119 others(77): Show a0001c0001t0001g0001 a0001c0001t0001g0110 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0002g0004 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0109 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0163 a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0004g0111 a0001c0001t0004g0112 a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 a0001c0001t0004g0116 a0001c0001t0004g0124 a0001c0001t0004g0128 a0001c0001t0004g0129 a0001c0001t0004g0141 a0001c0001t0004g0146 a0001c0001t0004g0155 a0001c0001t0004g0157 a0001c0001t0006g0103 a0001c0001t0007g0156 a0001c0001t0007g0158 a0001c0001t0007g0159 a0001c0001t0007g0337 a0001c0001t0012g0099 a0001c0001t0012g0106 a0001c0001t0013g0142 a0001c0001t0013g0143 a0001c0001t0013g0165 a0001c0001t0015g0095 a0001c0001t0017g0096 a0001c0001t0018g0104 a0001c0001t0018g0149 a0001c0001t0019g0139 a0001c0001t0020g0137 a0001c0001t0020g0140 a0001c0001t0022g0101 a0001c0001t0022g0130 a0001c0001t0028g0117 a0001c0001t0029g0123 a0001c0001t0037g0105 a0001c0001t0042g0152 a0001c0001t0044g0150 a0001c0001t0047g0322 a0001c0001t0053g0321 a0001c0001t0054g0005 a0001c0001t0056g0003 a0001c0001t0057g0118 a0001c0001t0058g0100 a0001c0001t0061g0120 a0001c0001t0062g0102 a0001c0001t0063g0145 a0001c0001t0065g0127 a0001c0001t0066g0161 a0001c0001t0071g0338 a0001c0001t0072g0339 a0001c0003t0034g0164	81	340	0.2382	16	c.3+2 others(29): Show c.3+2367_3+2368insAAAATACATACTTTTA	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	1/4			chr2	TogoVar
AP2A2_chr11_920870_1017240	935603	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0157 a0001c0003t0002g0157	1	268	0.0037	16	c.67+ others(31): Show c.67+9522_67+9537dupTTTTTTTTTTTTTTTT	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2A2_chr11_920870_1017240	946770	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01192.hp2 HG01243.hp1 others(18): Show HG01109.hp2 HG01192.hp2 HG01243.hp1 HG01346.hp1 HG01433.hp1 HG01884.hp2 HG01943.hp1 HG02486.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02965.hp1 HG02965.hp2 HG03209.hp1 HG03453.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp2 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0003c0007	a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 others(3): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 a0001c0003t0004 a0001c0008t0004 a0003c0007t0004	a0001c0001t0001g0011 a0001c0001t0001g0080 a0001c0001t0001g0086 others(18): Show a0001c0001t0001g0011 a0001c0001t0001g0080 a0001c0001t0001g0086 a0001c0002t0002g0226 a0001c0002t0002g0233 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0002g0257 a0001c0002t0004g0223 a0001c0002t0004g0224 a0001c0002t0004g0227 a0001c0002t0004g0228 a0001c0002t0004g0229 a0001c0002t0004g0230 a0001c0002t0004g0231 a0001c0002t0004g0232 a0001c0002t0004g0253 a0001c0002t0004g0254 a0001c0003t0004g0256 a0001c0008t0004g0237 a0003c0007t0004g0225	21	268	0.0784	16	c.68- others(33): Show c.68-12658_68-12657insAAAAAAAAAAAAAAAA	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2A2_chr11_920870_1017240	990510	T T	TGAGGTCC others(9): Show TGAGGTCCTGGGCATTC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0139 a0001c0002t0003g0139	1	268	0.0037	16	c.126 others(35): Show c.1269+1823_1269+1838dupAGGTCCTGGGCATTCG	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2A2_chr11_920870_1017240	998322	C C	CACCCGCC others(9): Show CACCCGCCCCCATTCTG	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	268	0.0037	16	c.195 others(35): Show c.1957-2105_1957-2090dupGCCCCCATTCTGACCC	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	14/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2B1_chr17_35582322_35731413	35656268	T T	TAGGGGGC others(9): Show TAGGGGGCCAGGGGGCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG00544.hp2 others(179): Show HG00099.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01074.hp1 HG01081.hp1 HG01109.hp1 HG01169.hp1 HG01192.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02273.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03927.hp2 HG04199.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18939.hp2 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18946.hp2 NA18948.hp1 NA18949.hp2 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19002.hp1 NA19004.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp2 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 others(10): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0016 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0002t0011 a0001c0002t0012 a0001c0002t0013 a0001c0002t0014 a0001c0003t0001 a0001c0006t0004	a0001c0001t0003g0019 a0001c0001t0004g0160 a0001c0001t0004g0318 others(178): Show a0001c0001t0003g0019 a0001c0001t0004g0160 a0001c0001t0004g0318 a0001c0001t0004g0320 a0001c0001t0004g0321 a0001c0001t0004g0322 a0001c0001t0004g0323 a0001c0001t0004g0324 a0001c0001t0004g0325 a0001c0001t0004g0326 a0001c0001t0004g0327 a0001c0001t0004g0328 a0001c0001t0004g0329 a0001c0001t0004g0330 a0001c0001t0004g0331 a0001c0001t0004g0332 a0001c0001t0004g0333 a0001c0001t0004g0334 a0001c0001t0004g0335 a0001c0001t0004g0336 a0001c0001t0004g0337 a0001c0001t0004g0338 a0001c0001t0004g0339 a0001c0001t0004g0340 a0001c0001t0004g0341 a0001c0001t0004g0342 a0001c0001t0004g0343 a0001c0001t0004g0344 a0001c0001t0004g0345 a0001c0001t0004g0346 a0001c0001t0004g0347 a0001c0001t0004g0349 a0001c0001t0004g0352 a0001c0001t0004g0353 a0001c0001t0004g0354 a0001c0001t0004g0355 a0001c0001t0004g0356 a0001c0001t0009g0161 a0001c0001t0009g0162 a0001c0001t0009g0163 a0001c0001t0009g0164 a0001c0001t0016g0052 a0001c0002t0001g0003 a0001c0002t0001g0060 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0232 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0293 a0001c0002t0001g0294 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0301 a0001c0002t0001g0306 a0001c0002t0001g0312 a0001c0002t0001g0313 a0001c0002t0001g0314 a0001c0002t0001g0315 a0001c0002t0001g0316 a0001c0002t0001g0363 a0001c0002t0001g0364 a0001c0002t0001g0365 a0001c0002t0001g0366 a0001c0002t0001g0367 a0001c0002t0001g0368 a0001c0002t0002g0263 a0001c0002t0010g0233 a0001c0002t0010g0246 a0001c0002t0010g0247 a0001c0002t0011g0192 a0001c0002t0011g0231 a0001c0002t0012g0215 a0001c0002t0013g0214 a0001c0002t0014g0286 a0001c0003t0001g0204 a0001c0003t0001g0213 a0001c0003t0001g0300 a0001c0003t0001g0302 a0001c0003t0001g0303 a0001c0003t0001g0304 a0001c0003t0001g0305 a0001c0003t0001g0307 a0001c0003t0001g0308 a0001c0003t0001g0309 a0001c0003t0001g0310 a0001c0003t0001g0311 a0001c0006t0004g0061	182	372	0.4893	16	c.179 others(35): Show c.1797-1322_1797-1321insGGGGGCCAGGGGGCCA	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
AP2B1_chr17_35582322_35731413	35720545	T T	TTATATAT others(9): Show TTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02970.hp2 HG02132.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0017 a0001c0002t0001g0291 a0001c0001t0003g0017 a0001c0002t0001g0291	2	372	0.0054	16	c.278 others(35): Show c.2782-3066_2782-3051dupATATATATATATATAT	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
AP2B1_chr17_35582322_35731413	35720545	T T	TTTTATAT others(9): Show TTTTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02647.hp1 HG02257.hp2 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0293 a0001c0002t0001g0294 a0001c0002t0001g0293 a0001c0002t0001g0294	2	372	0.0054	16	c.278 others(35): Show c.2782-3079_2782-3078insTTATATATATATATAT	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
AP3B1_chr5_77997326_78299698	78184686	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02451.hp1 HG02647.hp2 HG01168.hp1 HG02451.hp1 HG02647.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0187 a0001c0005t0002g0188 a0001c0005t0002g0192 a0001c0005t0002g0187 a0001c0005t0002g0188 a0001c0005t0002g0192	3	226	0.0133	16	c.787 others(33): Show c.787-3025_787-3024insTTTTTTTTTTTTTTTT	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	7/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78223027	C C	CTCTTTTT others(9): Show CTCTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02071.hp1 HG03471.hp2 HG01358.hp2 HG02071.hp1 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0084 a0002c0003t0001g0218 a0002c0003t0001g0219 a0001c0001t0001g0084 a0002c0003t0001g0218 a0002c0003t0001g0219	3	226	0.0133	16	c.603 others(33): Show c.603+2514_603+2515insAAAAAAAAAAAAAAGA	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	6/26			chr5	TogoVar
AP3B2_chr15_82654281_82714875	82700397	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02145.hp1 HG02451.hp2 others(10): Show HG01346.hp2 HG02145.hp1 HG02451.hp2 HG02886.hp1 HG02965.hp2 HG03471.hp1 HG03486.hp2 NA18906.hp2 NA18949.hp1 NA18963.hp1 NA19000.hp1 NA19011.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0095 others(10): Show a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0095 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0161 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180	13	368	0.0353	16	c.113 others(33): Show c.113+9181_113+9196dupAAAAAAAAAAAAAAAA	AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	1/26			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89858523	G G	GAGAGAGA others(9): Show GAGAGAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	312	0.0032	16	c.345 others(35): Show c.345+12951_345+12952insTTCTTTCTTTCTCTCT	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89858523	G G	GAGAGAGA others(9): Show GAGAGAGAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	312	0.0032	16	c.345 others(35): Show c.345+12951_345+12952insTTCTTTCTCTCTCTCT	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89858523	G G	GAGAGAGA others(9): Show GAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	312	0.0032	16	c.345 others(35): Show c.345+12951_345+12952insTTCTCTCTCTCTCTCT	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP4E1_chr15_50903683_51010895	50962889	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03098.hp1 NA20300.hp1 HG02145.hp1 HG03098.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0322 a0001c0001t0005g0332 a0001c0001t0005g0334 a0001c0001t0005g0322 a0001c0001t0005g0332 a0001c0001t0005g0334	3	392	0.0077	16	c.185 others(35): Show c.1851+4107_1851+4122dupAAAAAAAAAAAAAAAA	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4E1_chr15_50903683_51010895	50964955	C C	CCACACAC others(9): Show CCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG01943.hp1 others(33): Show HG00438.hp1 HG00438.hp2 HG01943.hp1 HG01975.hp2 HG02027.hp1 HG02071.hp2 HG02129.hp1 HG02155.hp1 HG02602.hp2 HG02922.hp2 HG03669.hp1 HG03704.hp1 HG04184.hp2 HG04199.hp1 NA18612.hp1 NA18906.hp2 NA18939.hp2 NA18949.hp2 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18978.hp1 NA18983.hp1 NA18984.hp1 NA18987.hp1 NA19002.hp1 NA19007.hp1 NA19064.hp1 NA19065.hp2 NA19067.hp2 NA19075.hp2 NA19079.hp2 NA19081.hp2 NA19088.hp2 NA19090.hp2 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0010 a0002c0002 others(2): Show a0001c0001 a0001c0010 a0002c0002 a0002c0003 a0003c0004	a0001c0001t0004 a0001c0010t0002 a0002c0002t0002 others(6): Show a0001c0001t0004 a0001c0010t0002 a0002c0002t0002 a0002c0002t0012 a0002c0002t0023 a0002c0002t0024 a0002c0003t0001 a0002c0003t0002 a0003c0004t0007	a0001c0001t0004g0368 a0001c0001t0004g0377 a0001c0001t0004g0379 others(33): Show a0001c0001t0004g0368 a0001c0001t0004g0377 a0001c0001t0004g0379 a0001c0001t0004g0387 a0001c0010t0002g0355 a0002c0002t0002g0035 a0002c0002t0002g0037 a0002c0002t0002g0043 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0107 a0002c0002t0002g0110 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0119 a0002c0002t0002g0124 a0002c0002t0012g0111 a0002c0002t0012g0112 a0002c0002t0023g0042 a0002c0002t0024g0047 a0002c0003t0001g0077 a0002c0003t0002g0123 a0003c0004t0007g0021 a0003c0004t0007g0022 a0003c0004t0007g0023	36	392	0.0918	16	c.185 others(35): Show c.1852-3286_1852-3271dupACACACACACACACAC	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4S1_chr14_31020649_31101450	31049428	A A	AAAAAATA others(9): Show AAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	346	0.0029	16	c.-71 others(35): Show c.-71-16697_-71-16696insAAAATATATATATATA	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP4S1_chr14_31020649_31101450	31049474	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01175.hp1 HG01192.hp1 others(6): Show HG01109.hp2 HG01175.hp1 HG01192.hp1 HG01952.hp1 HG03834.hp2 NA18948.hp2 NA18954.hp2 NA18956.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0118 a0001c0001t0001g0302 a0001c0001t0001g0303 others(6): Show a0001c0001t0001g0118 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0307 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0331 a0001c0001t0001g0338 a0001c0001t0005g0305	9	346	0.0260	16	c.-71 others(35): Show c.-71-16632_-71-16617dupCACACACACACACACA	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP4S1_chr14_31020649_31101450	31058517	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0253 a0001c0001t0004g0253	1	346	0.0029	16	c.-71 others(33): Show c.-71-7600_-71-7599insGTGTGTGTGTGTGTGT	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP4S1_chr14_31020649_31101450	31083496	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02886.hp2 HG03490.hp2 others(4): Show HG00099.hp2 HG02886.hp2 HG03490.hp2 HG03492.hp2 NA18989.hp2 NA19057.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0020 others(1): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0020 a0001c0001t0029	a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 others(4): Show a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0010g0271 a0001c0001t0010g0275 a0001c0001t0020g0202 a0001c0001t0029g0243	7	346	0.0202	16	c.306 others(33): Show c.306+2923_306+2938dupTTTTTTTTTTTTTTTT	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP5Z1_chr7_4770623_4799397	4793594	G G	GCGTGGGC others(9): Show GCGTGGGCTCTGTGGGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00597.hp1 HG01074.hp1 HG01109.hp1 others(39): Show HG00597.hp1 HG01074.hp1 HG01109.hp1 HG01261.hp2 HG01891.hp1 HG02074.hp2 HG02258.hp2 HG02486.hp1 HG02486.hp2 HG02622.hp1 HG02698.hp1 HG02735.hp1 HG02965.hp2 HG02970.hp2 HG03130.hp2 HG03225.hp1 HG03239.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp1 NA18522.hp1 NA18747.hp2 NA18940.hp1 NA18942.hp2 NA18951.hp2 NA18962.hp2 NA18969.hp2 NA19030.hp1 NA19057.hp2 NA19066.hp1 NA19070.hp2 NA19085.hp1 NA19086.hp2 NA19089.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0030 a0002c0033	a0001c0001t0002 a0001c0001t0028 a0001c0001t0041 others(6): Show a0001c0001t0002 a0001c0001t0028 a0001c0001t0041 a0001c0002t0002 a0002c0003t0002 a0002c0003t0011 a0002c0003t0043 a0002c0030t0002 a0002c0033t0002	a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0002g0018 others(28): Show a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0002g0018 a0001c0001t0002g0055 a0001c0001t0002g0105 a0001c0001t0002g0123 a0001c0001t0002g0150 a0001c0001t0028g0001 a0001c0001t0041g0122 a0001c0002t0002g0007 a0002c0003t0002g0003 a0002c0003t0002g0014 a0002c0003t0002g0026 a0002c0003t0002g0027 a0002c0003t0002g0047 a0002c0003t0002g0058 a0002c0003t0002g0059 a0002c0003t0002g0061 a0002c0003t0002g0062 a0002c0003t0002g0063 a0002c0003t0002g0064 a0002c0003t0002g0065 a0002c0003t0002g0066 a0002c0003t0002g0104 a0002c0003t0002g0174 a0002c0003t0011g0003 a0002c0003t0011g0025 a0002c0003t0011g0057 a0002c0003t0043g0025 a0002c0030t0002g0014 a0002c0033t0002g0047	42	340	0.1235	16	c.22 others(27): Show c.2211_*2226dupGTGGGCTCTGTGGGCC	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	17/17	2227	INFO_REALIGN_3_PRIME	chr7	TogoVar
APAF1_chr12_98640290_98740433	98653687	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	366	0.0027	16	c.526 others(33): Show c.526+4004_526+4005insTATATATATATATATA	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98653689	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	366	0.0027	16	c.526 others(33): Show c.526+4006_526+4007insTATATATATATATATA	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98653691	A A	AAAAAATA others(9): Show AAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	366	0.0027	16	c.526 others(33): Show c.526+4008_526+4009insAAAATATATATATATA	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98653691	A A	AAAATATA others(9): Show AAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	366	0.0027	16	c.526 others(33): Show c.526+4008_526+4009insAATATATATATATATA	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98653691	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03654.hp2 HG04199.hp1 others(1): Show HG02622.hp1 HG03654.hp2 HG04199.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0099 others(1): Show a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0099 a0001c0001t0016g0045	4	366	0.0109	16	c.526 others(33): Show c.526+4025_526+4040dupTATATATATATATATA	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98707692	C C	CTATATAT others(9): Show CTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04228.hp2 NA18747.hp2 NA18978.hp2 others(2): Show HG04228.hp2 NA18747.hp2 NA18978.hp2 NA19081.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0314 a0001c0001t0002g0323 a0001c0001t0002g0336 others(2): Show a0001c0001t0002g0314 a0001c0001t0002g0323 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0340	5	366	0.0137	16	c.272 others(33): Show c.2722-888_2722-873dupTATATATATATATATA	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98715281	T T	TATATATA others(9): Show TATATATATATATATGA	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA19057.hp2 HG02080.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0341 a0001c0001t0002g0347 a0001c0001t0002g0341 a0001c0001t0002g0347	2	366	0.0055	16	c.295 others(33): Show c.2959-146_2959-145insATATATATATATATGA	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	21/26			chr12	TogoVar
APBA1_chr9_69422532_69677371	69636890	A A	AGAAGGAA others(9): Show AGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0199 a0001c0001t0002g0199	1	210	0.0048	16	c.-70 others(35): Show c.-70+35247_-70+35262dupCTTCCTTCCTTCCTTC	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar
APBA1_chr9_69422532_69677371	69636922	G G	GGAAGGAA others(9): Show GGAAGGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0113 a0003c0007t0001g0113	1	210	0.0048	16	c.-70 others(35): Show c.-70+35230_-70+35231insTTTCTTTCTTTCCTTC	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar
APBA1_chr9_69422532_69677371	69636922	G G	GGAAGGAA others(9): Show GGAAGGAAGGAAAGAAA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03209.hp2 HG03704.hp1 HG03017.hp1 HG03209.hp2 HG03704.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0006 a0002c0002t0003 a0001c0001t0002 a0001c0001t0006 a0002c0002t0003	a0001c0001t0002g0107 a0001c0001t0006g0169 a0002c0002t0003g0120 a0001c0001t0002g0107 a0001c0001t0006g0169 a0002c0002t0003g0120	3	210	0.0143	16	c.-70 others(35): Show c.-70+35230_-70+35231insTTTCTTTCCTTCCTTC	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar
APBA1_chr9_69422532_69677371	69636922	G G	GGAAGGAA others(9): Show GGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01070.hp2 HG02074.hp1 others(4): Show HG00642.hp1 HG01070.hp2 HG02074.hp1 NA18944.hp2 NA18960.hp1 NA18998.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0009 a0001c0001t0002g0036 a0001c0001t0002g0043 others(4): Show a0001c0001t0001g0009 a0001c0001t0002g0036 a0001c0001t0002g0043 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0006g0160	7	210	0.0333	16	c.-70 others(35): Show c.-70+35230_-70+35231insTTTCCTTCCTTCCTTC	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar
APBA1_chr9_69422532_69677371	69658304	C C	CTCTTTCT others(9): Show CTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0201 a0001c0001t0002g0201	1	210	0.0048	16	c.-70 others(35): Show c.-70+13833_-70+13848dupAAGAAAGAAAGAAAGA	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar
APBA2_chr15_28880974_29123315	28901908	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00621.hp1 HG01167.hp1 others(28): Show HG00408.hp1 HG00621.hp1 HG01167.hp1 HG01891.hp2 HG01934.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp2 HG02280.hp2 HG02293.hp2 HG02615.hp2 HG02922.hp1 HG03041.hp1 HG03098.hp1 HG03195.hp1 HG03490.hp1 HG03490.hp2 HG03540.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18940.hp2 NA18950.hp2 NA18970.hp1 NA18970.hp2 NA19068.hp2 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0013 a0002c0002 others(4): Show a0001c0001 a0001c0013 a0002c0002 a0002c0003 a0002c0004 a0002c0014 a0004c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0027 a0001c0001t0040 a0001c0013t0009 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0007 a0002c0002t0009 a0002c0002t0011 a0002c0002t0015 a0002c0002t0019 a0002c0002t0021 a0002c0002t0026 a0002c0002t0032 a0002c0002t0045 a0002c0003t0012 a0002c0004t0009 a0002c0014t0035 a0004c0015t0006	a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0066 others(28): Show a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0066 a0001c0001t0002g0109 a0001c0001t0002g0112 a0001c0001t0002g0153 a0001c0001t0002g0170 a0001c0001t0003g0131 a0001c0001t0004g0037 a0001c0001t0005g0034 a0001c0001t0005g0078 a0001c0001t0027g0011 a0001c0001t0040g0147 a0001c0013t0009g0127 a0002c0002t0001g0076 a0002c0002t0003g0143 a0002c0002t0004g0042 a0002c0002t0007g0004 a0002c0002t0007g0137 a0002c0002t0009g0111 a0002c0002t0011g0123 a0002c0002t0015g0084 a0002c0002t0019g0132 a0002c0002t0021g0040 a0002c0002t0026g0090 a0002c0002t0032g0082 a0002c0002t0045g0113 a0002c0003t0012g0092 a0002c0004t0009g0121 a0002c0014t0035g0191 a0004c0015t0006g0120	31	204	0.1520	16	c.-20 others(37): Show c.-205+15648_-205+15663dupGTGTGTGTGTGTGTGT	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
APBA2_chr15_28880974_29123315	28969128	T T	TTTTCTTT others(9): Show TTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG03831.hp1 NA19002.hp1 HG01358.hp1 HG03831.hp1 NA19002.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0002c0002t0002 a0001c0001t0001 a0001c0001t0005 a0002c0002t0002	a0001c0001t0001g0085 a0001c0001t0005g0009 a0002c0002t0002g0180 a0001c0001t0001g0085 a0001c0001t0005g0009 a0002c0002t0002g0180	3	204	0.0147	16	c.-94 others(35): Show c.-94-26585_-94-26570dupCTTTCTTTCTTTCTTT	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
APBA2_chr15_28880974_29123315	28987725	G G	GATATATA others(9): Show GATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02647.hp1 HG03710.hp1 others(2): Show HG01071.hp2 HG02647.hp1 HG03710.hp1 NA18906.hp2 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0006 others(1): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0006 a0002c0002t0043	a0001c0001t0001g0008 a0001c0001t0001g0075 a0001c0001t0003g0157 others(2): Show a0001c0001t0001g0008 a0001c0001t0001g0075 a0001c0001t0003g0157 a0002c0002t0006g0003 a0002c0002t0043g0200	5	204	0.0245	16	c.-94 others(33): Show c.-94-8027_-94-8026insTATATATATATATATA	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
APBA2_chr15_28880974_29123315	29005864	A A	AAAATAAA others(9): Show AAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA20300.hp2 HG03209.hp1 NA20300.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0010 a0002c0002 a0005c0010	a0002c0002t0006 a0005c0010t0037 a0002c0002t0006 a0005c0010t0037	a0002c0002t0006g0118 a0005c0010t0037g0175 a0002c0002t0006g0118 a0005c0010t0037g0175	2	204	0.0098	16	c.-41 others(35): Show c.-41+10072_-41+10087dupAATAAATAAATAAATA	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
APBA2_chr15_28880974_29123315	29045069	T T	TTCTCTCT others(9): Show TTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19090.hp1 NA19066.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0138 a0001c0001t0005g0035 a0001c0001t0002g0138 a0001c0001t0005g0035	2	204	0.0098	16	c.-40 others(33): Show c.-40-8757_-40-8742dupTCTCTCTCTCTCTCTC	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
APBA2_chr15_28880974_29123315	29045103	C C	CTCTCTCT others(9): Show CTCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01358.hp2 HG03130.hp1 others(5): Show HG01071.hp2 HG01358.hp2 HG03130.hp1 HG03490.hp2 HG03540.hp1 HG03579.hp1 HG04184.hp1 NA18956.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0002c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0002c0002t0001 a0002c0003t0018 a0002c0016t0036	a0001c0001t0001g0008 a0001c0001t0002g0170 a0001c0001t0003g0196 others(5): Show a0001c0001t0001g0008 a0001c0001t0002g0170 a0001c0001t0003g0196 a0001c0001t0004g0045 a0001c0001t0005g0077 a0002c0002t0001g0050 a0002c0003t0018g0145 a0002c0016t0036g0001	8	204	0.0392	16	c.-40 others(33): Show c.-40-8742_-40-8741insTCTCTCTCTCTCTCTT	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	3/14			chr15	TogoVar
APBA2_chr15_28880974_29123315	29055668	A A	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	204	0.0049	16	c.951 others(31): Show c.951+862_951+877dupGTGTGTGTGTGTGTGT	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
APBA2_chr15_28880974_29123315	29112449	T T	TGCATGTG others(9): Show TGCATGTGTGTGTACAC	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0003 a0003c0008t0003	a0003c0008t0003g0126 a0003c0008t0003g0126	1	204	0.0049	16	c.203 others(35): Show c.2038-1416_2038-1401dupGTACACGCATGTGTGT	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
APBB1IP_chr10_26433341_26572803	26472569	T T	TTTCATTC others(9): Show TTTCATTCATTCATTCA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00642.hp2 HG02080.hp1 HG00438.hp2 HG00642.hp2 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0101 a0001c0001t0001g0239 a0001c0001t0001g0056 a0001c0001t0001g0101 a0001c0001t0001g0239	3	358	0.0084	16	c.1-1 others(31): Show c.1-19741_1-19726dupTTCATTCATTCATTCA	APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
APBB1IP_chr10_26433341_26572803	26500622	C C	CAACAAAT others(9): Show CAACAAATGCAGCAACA	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	358	0.0028	16	c.161 others(31): Show c.161-196_161-181dupAACAAATGCAGCAACA	APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
APBB1IP_chr10_26433341_26572803	26510734	T T	TCTCTCTC others(9): Show TCTCTCTCACACACACA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03831.hp1 HG01261.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0258 a0001c0001t0005g0024 a0001c0001t0002g0258 a0001c0001t0005g0024	2	358	0.0056	16	c.532 others(33): Show c.532-1012_532-1011insTCTCTCACACACACAC	APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
APBB1IP_chr10_26433341_26572803	26516543	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp2 HG01358.hp1 others(26): Show HG00438.hp1 HG00597.hp2 HG01358.hp1 HG02056.hp1 HG02129.hp1 HG02135.hp2 HG02257.hp2 HG02280.hp1 HG02486.hp1 HG02602.hp2 HG03516.hp1 NA18942.hp1 NA18943.hp1 NA18957.hp1 NA18960.hp1 NA18969.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18983.hp2 NA18988.hp1 NA18988.hp2 NA18998.hp1 NA19003.hp2 NA19043.hp2 NA19082.hp1 NA19087.hp2 NA19240.hp1 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0003c0003t0001 a0003c0003t0002	a0001c0001t0001g0025 a0001c0001t0001g0040 a0001c0001t0001g0046 others(26): Show a0001c0001t0001g0025 a0001c0001t0001g0040 a0001c0001t0001g0046 a0001c0001t0001g0060 a0001c0001t0001g0079 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0096 a0001c0001t0001g0108 a0001c0001t0001g0122 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0166 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0213 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0002g0259 a0001c0001t0002g0322 a0001c0001t0002g0347 a0001c0001t0002g0353 a0001c0001t0003g0312 a0003c0003t0001g0110 a0003c0003t0002g0349	29	358	0.0810	16	c.813 others(33): Show c.813+2886_813+2901dupAAAAAAAAAAAAAAAA	APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
APBB1IP_chr10_26433341_26572803	26524974	T T	TTTTTTTT others(9): Show TTTTTTTTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01081.hp1 HG01106.hp1 others(14): Show HG00140.hp1 HG01081.hp1 HG01106.hp1 HG01256.hp2 HG02165.hp2 HG02486.hp2 HG02735.hp1 HG03017.hp1 NA18948.hp1 NA18953.hp2 NA18956.hp2 NA18962.hp1 NA18968.hp1 NA18969.hp2 NA19081.hp2 NA19083.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0098 others(14): Show a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0197 a0001c0001t0001g0211 a0001c0001t0001g0229 a0001c0001t0001g0244 a0001c0001t0002g0257 a0001c0001t0002g0260 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0329	17	358	0.0475	16	c.814 others(33): Show c.814-8465_814-8464insTTTTTTTTTTTTTTTA	APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	8/14			chr10	TogoVar
APBB1_chr11_6390125_6424094	6421657	C C	CAAATAAA others(9): Show CAAATAAATAAATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG03195.hp1 HG03453.hp1 others(1): Show HG02559.hp2 HG03195.hp1 HG03453.hp1 NA20129.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0007 a0004c0012 a0001c0001 a0001c0007 a0004c0012	a0001c0001t0001 a0001c0007t0001 a0004c0012t0001 a0001c0001t0001 a0001c0007t0001 a0004c0012t0001	a0001c0001t0001g0338 a0001c0001t0001g0340 a0001c0007t0001g0339 others(1): Show a0001c0001t0001g0338 a0001c0001t0001g0340 a0001c0007t0001g0339 a0004c0012t0001g0341	4	416	0.0096	16	c.-26 others(27): Show c.-2688_-2687insATTTATTTATTTATTT	APBB1	ENSG00000166313.20	transcript	ENST00000609360.6	protein_coding		2564		chr11	TogoVar
APBB2_chr4_40805027_41219542	40832011	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0031 a0001c0002t0022g0031	1	192	0.0052	16	c.153 others(35): Show c.1530-1435_1530-1434insGTGTGTGTGTGTGTGT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	12/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40832013	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0007 a0002c0001t0007	a0002c0001t0007g0087 a0002c0001t0007g0087	1	192	0.0052	16	c.153 others(35): Show c.1530-1452_1530-1437dupGTGTGTGTGTGTGTGT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	12/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40832013	T T	TATACACA others(9): Show TATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00733.hp1 HG01361.hp1 others(4): Show HG00558.hp2 HG00733.hp1 HG01361.hp1 HG01517.hp2 NA18951.hp2 NA18955.hp1 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0002c0001	a0001c0002t0001 a0001c0003t0001 a0001c0003t0004 others(3): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0004 a0001c0003t0055 a0001c0004t0013 a0002c0001t0001	a0001c0002t0001g0099 a0001c0003t0001g0185 a0001c0003t0004g0139 others(4): Show a0001c0002t0001g0099 a0001c0003t0001g0185 a0001c0003t0004g0139 a0001c0003t0055g0080 a0001c0004t0013g0022 a0002c0001t0001g0032 a0002c0001t0001g0037	7	192	0.0365	16	c.153 others(35): Show c.1530-1437_1530-1436insGTGTGTGTGTGTGTAT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	12/17			chr4	TogoVar

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