Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
AOX1_chr2_200581014_200676495	200663572	A A	ACACTCTC others(3): Show ACACTCTCTCT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02723.hp1 HG02723.hp2 others(4): Show HG02647.hp1 HG02723.hp1 HG02723.hp2 HG03130.hp2 HG03209.hp1 NA19030.hp1 NA21309.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0004 a0003c0003t0001 a0003c0003t0004	a0003c0003t0001g0212 a0003c0003t0001g0248 a0003c0003t0004g0073 others(4): Show a0003c0003t0001g0212 a0003c0003t0001g0248 a0003c0003t0004g0073 a0003c0003t0004g0092 a0003c0003t0004g0209 a0003c0003t0004g0214 a0003c0003t0004g0276	7	370	0.0189	10	c.354 others(27): Show c.3543+604_3543+605insACTCTCTCTC	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	31/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
AP1AR_chr4_112226787_112278110	112269093	G G	GATATATA others(3): Show GATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01433.hp1 HG03927.hp1 HG01433.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0135 a0001c0001t0014g0140 a0001c0001t0014g0135 a0001c0001t0014g0140	2	398	0.0050	10	c.69 others(19): Show c.693_*702dupATATATATAT	AP1AR	ENSG00000138660.12	transcript	ENST00000274000.10	protein_coding	10/10	703	INFO_REALIGN_3_PRIME	chr4	TogoVar
AP1B1_chr22_29322680_29393570	29344110	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02809.hp2 HG02970.hp1 others(4): Show HG02717.hp1 HG02809.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp2 HG03471.hp2 HG06807.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0013 a0001c0004t0002 a0001c0004t0013	a0001c0004t0002g0020 a0001c0004t0002g0023 a0001c0004t0002g0024 others(4): Show a0001c0004t0002g0020 a0001c0004t0002g0023 a0001c0004t0002g0024 a0001c0004t0002g0026 a0001c0004t0002g0350 a0001c0004t0002g0353 a0001c0004t0013g0352	7	378	0.0185	10	c.143 others(29): Show c.1438-1737_1438-1728dupTTTTTTTTTT	AP1B1	ENSG00000100280.17	transcript	ENST00000357586.7	protein_coding	11/22			chr22	TogoVar
AP1B1_chr22_29322680_29393570	29369755	A A	AGCCTCAG others(3): Show AGCCTCAGCCT	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	378	0.0027	10	c.-27 others(27): Show c.-27-2495_-27-2486dupAGGCTGAGGC	AP1B1	ENSG00000100280.17	transcript	ENST00000357586.7	protein_coding	1/22			chr22	TogoVar
AP1B1_chr22_29322680_29393570	29370466	A A	AAAAAAGA others(3): Show AAAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0100 a0001c0003t0002g0100	1	378	0.0027	10	c.-27 others(27): Show c.-27-3197_-27-3196insCTTTCTTTTT	AP1B1	ENSG00000100280.17	transcript	ENST00000357586.7	protein_coding	1/22			chr22	TogoVar
AP1G1_chr16_71724000_71813834	71736098	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01169.hp2 HG01192.hp1 others(10): Show HG00735.hp1 HG01169.hp2 HG01192.hp1 HG03490.hp1 HG03831.hp1 HG04228.hp1 NA18957.hp1 NA18959.hp1 NA18964.hp2 NA18990.hp2 NA19010.hp2 NA19054.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0014	a0001c0001t0002g0194 a0001c0001t0002g0233 a0001c0001t0002g0240 others(10): Show a0001c0001t0002g0194 a0001c0001t0002g0233 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0003g0196 a0001c0001t0003g0205 a0001c0001t0003g0236 a0001c0001t0003g0257 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0012g0200 a0001c0001t0014g0204	13	320	0.0406	10	c.226 others(29): Show c.2269-1401_2269-1392dupTTTTTTTTTT	AP1G1	ENSG00000166747.13	transcript	ENST00000299980.9	protein_coding	21/22			chr16	TogoVar
AP1G1_chr16_71724000_71813834	71736117	A A	AAAAAAAA others(3): Show AAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0262 a0001c0001t0002g0262	1	320	0.0031	10	c.226 others(29): Show c.2269-1411_2269-1410insATTTTTTTTT	AP1G1	ENSG00000166747.13	transcript	ENST00000299980.9	protein_coding	21/22			chr16	TogoVar
AP1G1_chr16_71724000_71813834	71768500	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(214): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01934.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18941.hp2 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19065.hp1 NA19065.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0004 a0002c0002 others(2): Show a0001c0001 a0001c0004 a0002c0002 a0003c0005 a0005c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(32): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0018 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0004t0007 a0002c0002t0001 a0002c0002t0004 a0002c0002t0005 a0002c0002t0017 a0002c0002t0021 a0002c0002t0022 a0002c0002t0031 a0002c0002t0032 a0002c0002t0033 a0003c0005t0001 a0005c0006t0001	a0001c0001t0002g0044 a0001c0001t0002g0133 a0001c0001t0002g0194 others(213): Show a0001c0001t0002g0044 a0001c0001t0002g0133 a0001c0001t0002g0194 a0001c0001t0002g0198 a0001c0001t0002g0201 a0001c0001t0002g0210 a0001c0001t0002g0215 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0224 a0001c0001t0002g0226 a0001c0001t0002g0228 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0253 a0001c0001t0002g0258 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0265 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0276 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0281 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0299 a0001c0001t0002g0301 a0001c0001t0002g0305 a0001c0001t0002g0307 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0211 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0216 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0223 a0001c0001t0003g0227 a0001c0001t0003g0229 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0001t0003g0257 a0001c0001t0003g0260 a0001c0001t0003g0268 a0001c0001t0003g0272 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0277 a0001c0001t0003g0293 a0001c0001t0003g0304 a0001c0001t0003g0308 a0001c0001t0004g0032 a0001c0001t0004g0300 a0001c0001t0005g0050 a0001c0001t0005g0051 a0001c0001t0005g0052 a0001c0001t0005g0053 a0001c0001t0005g0054 a0001c0001t0005g0056 a0001c0001t0005g0057 a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0001t0005g0060 a0001c0001t0005g0063 a0001c0001t0005g0093 a0001c0001t0005g0112 a0001c0001t0005g0114 a0001c0001t0005g0115 a0001c0001t0005g0116 a0001c0001t0005g0117 a0001c0001t0005g0118 a0001c0001t0005g0119 a0001c0001t0005g0120 a0001c0001t0005g0122 a0001c0001t0007g0066 a0001c0001t0007g0072 a0001c0001t0007g0075 a0001c0001t0007g0077 a0001c0001t0007g0078 a0001c0001t0007g0080 a0001c0001t0007g0081 a0001c0001t0007g0084 a0001c0001t0007g0087 a0001c0001t0007g0090 a0001c0001t0009g0001 a0001c0001t0009g0067 a0001c0001t0009g0069 a0001c0001t0009g0070 a0001c0001t0009g0073 a0001c0001t0009g0079 a0001c0001t0011g0199 a0001c0001t0011g0222 a0001c0001t0011g0235 a0001c0001t0011g0246 a0001c0001t0011g0247 a0001c0001t0011g0248 a0001c0001t0011g0256 a0001c0001t0011g0259 a0001c0001t0012g0197 a0001c0001t0012g0200 a0001c0001t0012g0202 a0001c0001t0012g0203 a0001c0001t0012g0207 a0001c0001t0012g0292 a0001c0001t0013g0280 a0001c0001t0013g0282 a0001c0001t0013g0286 a0001c0001t0013g0287 a0001c0001t0013g0288 a0001c0001t0013g0289 a0001c0001t0014g0195 a0001c0001t0014g0204 a0001c0001t0014g0252 a0001c0001t0014g0266 a0001c0001t0014g0303 a0001c0001t0018g0314 a0001c0001t0023g0121 a0001c0001t0025g0217 a0001c0001t0026g0311 a0001c0001t0027g0263 a0001c0001t0028g0251 a0001c0001t0029g0267 a0001c0001t0030g0049 a0001c0001t0035g0234 a0001c0001t0036g0271 a0001c0001t0037g0082 a0001c0001t0038g0083 a0001c0001t0040g0238 a0001c0004t0007g0068 a0001c0004t0007g0074 a0001c0004t0007g0076 a0001c0004t0007g0091 a0002c0002t0001g0089 a0002c0002t0001g0092 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0107 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0123 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0128 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0141 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0153 a0002c0002t0001g0155 a0002c0002t0001g0159 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0167 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0178 a0002c0002t0001g0182 a0002c0002t0001g0243 a0002c0002t0001g0317 a0002c0002t0001g0319 a0002c0002t0004g0149 a0002c0002t0005g0142 a0002c0002t0017g0047 a0002c0002t0017g0129 a0002c0002t0021g0097 a0002c0002t0022g0094 a0002c0002t0031g0160 a0002c0002t0032g0140 a0002c0002t0033g0152 a0003c0005t0001g0165 a0003c0005t0001g0166 a0005c0006t0001g0132	217	320	0.6781	10	c.642 others(27): Show c.642+1113_642+1122dupTTTTTTTTTT	AP1G1	ENSG00000166747.13	transcript	ENST00000299980.9	protein_coding	6/22			chr16	TogoVar
AP1G1_chr16_71724000_71813834	71768500	C C	CCAAAAAA others(3): Show CCAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02738.hp1 HG02602.hp1 HG02738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0156 a0002c0002t0001g0157	2	320	0.0063	10	c.642 others(27): Show c.642+1122_642+1123insTTTTTTTTTG	AP1G1	ENSG00000166747.13	transcript	ENST00000299980.9	protein_coding	6/22			chr16	TogoVar
AP1G1_chr16_71724000_71813834	71768512	A A	AAAAAAAA others(3): Show AAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0164 a0002c0002t0001g0164	1	320	0.0031	10	c.642 others(27): Show c.642+1110_642+1111insCTTTTTTTTT	AP1G1	ENSG00000166747.13	transcript	ENST00000299980.9	protein_coding	6/22			chr16	TogoVar
AP1G1_chr16_71724000_71813834	71794835	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02486.hp2 HG02818.hp2 others(5): Show HG01106.hp1 HG02486.hp2 HG02818.hp2 HG02965.hp1 HG03453.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0023 a0001c0004t0007	a0001c0001t0002g0133 a0001c0001t0005g0060 a0001c0001t0005g0118 others(5): Show a0001c0001t0002g0133 a0001c0001t0005g0060 a0001c0001t0005g0118 a0001c0001t0005g0119 a0001c0001t0005g0120 a0001c0001t0007g0066 a0001c0001t0023g0121 a0001c0004t0007g0068	8	320	0.0250	10	c.-3- others(25): Show c.-3-5363_-3-5354dupAAAAAAAAAA	AP1G1	ENSG00000166747.13	transcript	ENST00000299980.9	protein_coding	1/22			chr16	TogoVar
AP1M1_chr19_16192911_16250906	16215194	C C	CAGGGGCG others(3): Show CAGGGGCGGGG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01361.hp2 HG02015.hp1 others(4): Show HG00423.hp2 HG01361.hp2 HG02015.hp1 HG02155.hp2 HG03471.hp2 NA18951.hp2 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0008 a0001c0001t0122 others(3): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0122 a0001c0002t0023 a0001c0002t0044 a0001c0002t0058	a0001c0001t0004g0241 a0001c0001t0004g0257 a0001c0001t0008g0262 others(4): Show a0001c0001t0004g0241 a0001c0001t0004g0257 a0001c0001t0008g0262 a0001c0001t0122g0274 a0001c0002t0023g0172 a0001c0002t0044g0099 a0001c0002t0058g0166	7	308	0.0227	10	c.546 others(27): Show c.546+6017_546+6018insAGGGGCGGGG	AP1M1	ENSG00000072958.9	transcript	ENST00000291439.8	protein_coding	5/11			chr19	TogoVar
AP1M1_chr19_16192911_16250906	16215194	C C	CAGGGGGC others(3): Show CAGGGGGCGGG	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0069 a0001c0002t0069	a0001c0002t0069g0162 a0001c0002t0069g0162	1	308	0.0033	10	c.546 others(27): Show c.546+6017_546+6018insAGGGGGCGGG	AP1M1	ENSG00000072958.9	transcript	ENST00000291439.8	protein_coding	5/11			chr19	TogoVar
AP1M1_chr19_16192911_16250906	16215496	T T	TGTTTAAT others(3): Show TGTTTAATATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0020 a0001c0001t0030g0020	1	308	0.0033	10	c.546 others(27): Show c.546+6321_546+6330dupTTTAATATAG	AP1M1	ENSG00000072958.9	transcript	ENST00000291439.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
AP1M1_chr19_16192911_16250906	16216077	T T	TATGATTC others(3): Show TATGATTCTTA	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0135 a0001c0002t0002g0135	1	308	0.0033	10	c.546 others(27): Show c.546+6902_546+6903insGATTCTTAAT	AP1M1	ENSG00000072958.9	transcript	ENST00000291439.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
AP1M1_chr19_16192911_16250906	16244882	T T	TTTTTTTG others(3): Show TTTTTTTGTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0145 a0001c0001t0145	a0001c0001t0145g0268 a0001c0001t0145g0268	1	308	0.0033	10	c.10 others(23): Show c.10449_*10450insTTTTGTTGTT	AP1M1	ENSG00000072958.9	transcript	ENST00000291439.8	protein_coding	12/12	10450	INFO_REALIGN_3_PRIME	chr19	TogoVar
AP1M1_chr19_16192911_16250906	16250272	A A	ATGTGTGT others(3): Show ATGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0153 a0001c0001t0153	a0001c0001t0153g0033 a0001c0001t0153g0033	1	308	0.0033	10	c.15 others(23): Show c.15837_*15838insTGTGTGTGTG	AP1M1	ENSG00000072958.9	transcript	ENST00000291439.8	protein_coding		4367		chr19	TogoVar
AP1M1_chr19_16192911_16250906	16250292	A A	ATGTGTGT others(3): Show ATGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01192.hp1 others(23): Show HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG01978.hp1 HG01993.hp1 HG02083.hp2 HG02258.hp2 HG02602.hp2 HG03540.hp1 HG03669.hp2 HG03688.hp2 HG06807.hp2 NA18944.hp1 NA18944.hp2 NA18964.hp1 NA18968.hp2 NA18997.hp1 NA19002.hp2 NA19088.hp1 NA19090.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0033 a0001c0001t0092 a0001c0001t0135 others(17): Show a0001c0001t0033 a0001c0001t0092 a0001c0001t0135 a0001c0001t0140 a0001c0001t0145 a0001c0001t0155 a0001c0001t0171 a0001c0001t0172 a0001c0001t0173 a0001c0001t0175 a0001c0002t0002 a0001c0002t0005 a0001c0002t0010 a0001c0002t0015 a0001c0002t0017 a0001c0002t0044 a0001c0002t0045 a0001c0002t0064 a0001c0002t0070 a0001c0005t0076	a0001c0001t0033g0264 a0001c0001t0092g0205 a0001c0001t0135g0272 others(23): Show a0001c0001t0033g0264 a0001c0001t0092g0205 a0001c0001t0135g0272 a0001c0001t0140g0245 a0001c0001t0145g0268 a0001c0001t0155g0056 a0001c0001t0171g0034 a0001c0001t0172g0055 a0001c0001t0173g0054 a0001c0001t0175g0083 a0001c0002t0002g0103 a0001c0002t0002g0111 a0001c0002t0002g0132 a0001c0002t0005g0129 a0001c0002t0005g0138 a0001c0002t0010g0165 a0001c0002t0015g0088 a0001c0002t0015g0089 a0001c0002t0015g0090 a0001c0002t0017g0096 a0001c0002t0017g0147 a0001c0002t0044g0099 a0001c0002t0045g0122 a0001c0002t0064g0169 a0001c0002t0070g0153 a0001c0005t0076g0142	26	308	0.0844	10	c.15 others(23): Show c.15857_*15858insTGTGTGTGTG	AP1M1	ENSG00000072958.9	transcript	ENST00000291439.8	protein_coding		4387		chr19	TogoVar
AP1M2_chr19_10567671_10592312	10570547	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG01109.hp2 HG01346.hp2 others(20): Show HG00621.hp1 HG01109.hp2 HG01346.hp2 HG01496.hp2 HG02080.hp1 HG02165.hp1 HG02300.hp2 HG02818.hp2 HG02922.hp2 HG03098.hp2 HG03139.hp2 HG03471.hp1 HG03516.hp1 HG03669.hp2 HG04199.hp1 NA18952.hp2 NA18956.hp2 NA18962.hp2 NA18977.hp1 NA18993.hp1 NA18998.hp1 NA19005.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0292 others(20): Show a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0292 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0002g0020 a0001c0002t0003g0004 a0001c0002t0003g0011 a0001c0002t0003g0021 a0001c0002t0003g0086 a0001c0002t0003g0113 a0001c0002t0003g0116 a0001c0002t0003g0124 a0001c0002t0003g0130 a0001c0002t0003g0133 a0001c0002t0003g0146 a0001c0002t0003g0160 a0001c0002t0003g0172 a0001c0002t0003g0173 a0001c0002t0003g0180 a0001c0002t0003g0273	23	394	0.0584	10	c.25 others(21): Show c.2518_*2519insTTTTTTTTTT	AP1M2	ENSG00000129354.12	transcript	ENST00000250244.11	protein_coding		2123		chr19	TogoVar
AP1M2_chr19_10567671_10592312	10577423	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02486.hp2 HG02647.hp1 others(2): Show HG01934.hp2 HG02486.hp2 HG02647.hp1 HG02895.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 others(2): Show a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0258	5	394	0.0127	10	c.889 others(23): Show c.889-77_889-68dupAAAAAAAAAA	AP1M2	ENSG00000129354.12	transcript	ENST00000250244.11	protein_coding	8/11			chr19	TogoVar
AP1M2_chr19_10567671_10592312	10585265	A A	AAAGAAAG others(3): Show AAAGAAAGAAG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0321 a0001c0001t0001g0321	1	394	0.0025	10	c.43- others(25): Show c.43-1196_43-1195insCTTCTTTCTT	AP1M2	ENSG00000129354.12	transcript	ENST00000250244.11	protein_coding	1/11			chr19	TogoVar
AP1M2_chr19_10567671_10592312	10585276	G G	GAAAAGAA others(3): Show GAAAAGAAGGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0115 a0001c0002t0002g0115	1	394	0.0025	10	c.43- others(25): Show c.43-1207_43-1206insTCCTTCTTTT	AP1M2	ENSG00000129354.12	transcript	ENST00000250244.11	protein_coding	1/11			chr19	TogoVar
AP1M2_chr19_10567671_10592312	10585331	G G	GAAAGAAA others(3): Show GAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0323 a0001c0001t0001g0323	1	394	0.0025	10	c.43- others(25): Show c.43-1271_43-1262dupTTCTTTCTTT	AP1M2	ENSG00000129354.12	transcript	ENST00000250244.11	protein_coding	1/11			chr19	TogoVar
AP1S2_chrX_15820806_15859813	15834439	A A	AATATATA others(3): Show AATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00735.hp1 HG00741.hp1 others(11): Show HG00408.hp1 HG00735.hp1 HG00741.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01496.hp1 HG01516.hp2 HG02280.hp1 NA18965.hp1 NA18974.hp1 NA19030.hp1 NA19079.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0010 a0001c0001t0002g0075 a0001c0001t0002g0082 others(6): Show a0001c0001t0002g0010 a0001c0001t0002g0075 a0001c0001t0002g0082 a0001c0001t0002g0107 a0001c0001t0002g0114 a0001c0001t0002g0130 a0001c0001t0004g0027 a0001c0001t0004g0029 a0001c0001t0004g0096	14	318	0.0440	10	c.427 others(27): Show c.427-6249_427-6240dupATATATATAT	AP1S2	ENSG00000182287.15	transcript	ENST00000672987.1	protein_coding	4/5			chrX	TogoVar
AP1S3_chr2_223750326_223842582	223756470	G G	GAAAGAAA others(3): Show GAAAGAAAGAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0005 a0001c0001t0054g0005	1	340	0.0029	10	c.22 others(21): Show c.2235_*2244dupTTCTTTCTTT	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	5/5	2244		chr2	TogoVar
AP1S3_chr2_223750326_223842582	223770497	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00544.hp1 others(72): Show HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00639.hp1 HG00738.hp1 HG01496.hp1 HG01891.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp1 HG02056.hp1 HG02080.hp1 HG02145.hp1 HG02155.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02615.hp1 HG02622.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02886.hp2 HG02897.hp2 HG02970.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp2 HG03540.hp2 HG03669.hp1 HG03710.hp2 HG03942.hp2 HG04199.hp1 NA18747.hp1 NA18747.hp2 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18954.hp1 NA18955.hp1 NA18963.hp1 NA18970.hp1 NA18970.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18981.hp2 NA18983.hp1 NA18986.hp1 NA18991.hp1 NA18994.hp1 NA19002.hp1 NA19003.hp1 NA19007.hp1 NA19009.hp2 NA19054.hp2 NA19057.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19065.hp1 NA19079.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19240.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0027 a0001c0001t0028 a0001c0001t0032 a0001c0001t0052 a0001c0001t0055 a0001c0001t0059 a0001c0001t0066 a0001c0001t0071 a0001c0003t0021 a0002c0002t0002	a0001c0001t0001g0002 a0001c0001t0001g0055 a0001c0001t0001g0125 others(72): Show a0001c0001t0001g0002 a0001c0001t0001g0055 a0001c0001t0001g0125 a0001c0001t0001g0201 a0001c0001t0001g0206 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0038 a0001c0001t0002g0041 a0001c0001t0002g0044 a0001c0001t0002g0049 a0001c0001t0002g0066 a0001c0001t0002g0076 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0098 a0001c0001t0002g0109 a0001c0001t0002g0153 a0001c0001t0002g0163 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0209 a0001c0001t0002g0226 a0001c0001t0002g0229 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0263 a0001c0001t0002g0294 a0001c0001t0002g0310 a0001c0001t0002g0330 a0001c0001t0003g0010 a0001c0001t0003g0019 a0001c0001t0003g0034 a0001c0001t0003g0052 a0001c0001t0003g0075 a0001c0001t0003g0224 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0287 a0001c0001t0004g0009 a0001c0001t0004g0108 a0001c0001t0004g0155 a0001c0001t0004g0281 a0001c0001t0008g0176 a0001c0001t0008g0187 a0001c0001t0008g0188 a0001c0001t0008g0223 a0001c0001t0008g0233 a0001c0001t0008g0243 a0001c0001t0012g0099 a0001c0001t0012g0106 a0001c0001t0012g0180 a0001c0001t0012g0182 a0001c0001t0015g0069 a0001c0001t0015g0095 a0001c0001t0015g0186 a0001c0001t0015g0217 a0001c0001t0016g0045 a0001c0001t0016g0288 a0001c0001t0019g0265 a0001c0001t0027g0332 a0001c0001t0027g0335 a0001c0001t0028g0117 a0001c0001t0032g0216 a0001c0001t0052g0254 a0001c0001t0055g0172 a0001c0001t0059g0082 a0001c0001t0066g0161 a0001c0001t0071g0338 a0001c0003t0021g0320 a0002c0002t0002g0171 a0002c0002t0002g0292	75	340	0.2206	10	c.292 others(27): Show c.292-5157_292-5148dupGTGTGTGTGT	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	3/4			chr2	TogoVar
AP1S3_chr2_223750326_223842582	223780276	A A	AATATATA others(3): Show AATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01891.hp1 HG03669.hp1 HG01261.hp1 HG01891.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0042 a0001c0001t0001 a0001c0001t0002 a0001c0001t0042	a0001c0001t0001g0160 a0001c0001t0002g0066 a0001c0001t0042g0152 a0001c0001t0001g0160 a0001c0001t0002g0066 a0001c0001t0042g0152	3	340	0.0088	10	c.4-2 others(23): Show c.4-2417_4-2408dupATATATATAT	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	1/4			chr2	TogoVar
AP1S3_chr2_223750326_223842582	223780308	T T	TATATAGA others(3): Show TATATAGAGAG	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0221 a0001c0001t0067g0221	1	340	0.0029	10	c.4-2 others(23): Show c.4-2440_4-2439insCTCTCTATAT	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	1/4			chr2	TogoVar
AP1S3_chr2_223750326_223842582	223780351	A A	AGTGTGTG others(3): Show AGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0299 a0001c0001t0005g0299	1	340	0.0029	10	c.4-2 others(23): Show c.4-2483_4-2482insACACACACAC	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	1/4			chr2	TogoVar
AP1S3_chr2_223750326_223842582	223780355	A A	AGTGTGTG others(3): Show AGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0045 a0001c0001t0016g0045	1	340	0.0029	10	c.4-2 others(23): Show c.4-2487_4-2486insACACACACAC	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	1/4			chr2	TogoVar
AP1S3_chr2_223750326_223842582	223780357	A A	AGTGTGTG others(3): Show AGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA18973.hp1 HG03540.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0067 a0001c0001t0002 a0001c0001t0067	a0001c0001t0002g0154 a0001c0001t0067g0221 a0001c0001t0002g0154 a0001c0001t0067g0221	2	340	0.0059	10	c.4-2 others(23): Show c.4-2498_4-2489dupACACACACAC	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	1/4			chr2	TogoVar
AP1S3_chr2_223750326_223842582	223799208	G G	GACACACA others(3): Show GACACACACAC	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA18747.hp2 NA18973.hp2 HG02015.hp2 NA18747.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0014 a0001c0001t0055 a0001c0001t0006 a0001c0001t0014 a0001c0001t0055	a0001c0001t0006g0235 a0001c0001t0014g0307 a0001c0001t0055g0172 a0001c0001t0006g0235 a0001c0001t0014g0307 a0001c0001t0055g0172	3	340	0.0088	10	c.4-2 others(25): Show c.4-21349_4-21340dupGTGTGTGTGT	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	1/4			chr2	TogoVar
AP1S3_chr2_223750326_223842582	223832135	C C	CTGTGTGT others(3): Show CTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02258.hp1 HG03486.hp2 others(7): Show HG00544.hp1 HG02258.hp1 HG03486.hp2 NA18950.hp2 NA18951.hp1 NA18970.hp2 NA18991.hp2 NA18995.hp2 NA19089.hp1 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0002c0002t0002	a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 others(7): Show a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0247 a0001c0001t0002g0229 a0001c0001t0002g0294 a0001c0001t0003g0198 a0001c0001t0005g0199 a0001c0001t0011g0200 a0002c0002t0002g0291	10	340	0.0294	10	c.3+5 others(23): Show c.3+5303_3+5312dupCACACACACA	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	1/4			chr2	TogoVar
AP2A1_chr19_49762001_49812114	49772253	T T	TTTTTGTT others(3): Show TTTTTGTTTTG	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	342	0.0029	10	c.67+ others(25): Show c.67+5057_67+5058insGTTTTGTTTT	AP2A1	ENSG00000196961.13	transcript	ENST00000354293.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
AP2A2_chr11_920870_1017240	925811	T T	TCGCGTGC others(3): Show TCGCGTGCGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp2 HG03654.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0007 a0001c0006t0001 a0001c0001t0007 a0001c0006t0001	a0001c0001t0007g0088 a0001c0006t0001g0036 a0001c0001t0007g0088 a0001c0006t0001g0036	2	268	0.0075	10	c.-21 others(19): Show c.-211_-210insCGCGTGCGTG	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding		58		chr11	TogoVar
AP2A2_chr11_920870_1017240	935603	G G	GTTTTTTT others(3): Show GTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA19240.hp1 HG02055.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0009 a0001c0002t0002 a0001c0004t0009	a0001c0002t0002g0003 a0001c0004t0009g0261 a0001c0002t0002g0003 a0001c0004t0009g0261	2	268	0.0075	10	c.67+ others(25): Show c.67+9528_67+9537dupTTTTTTTTTT	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2A2_chr11_920870_1017240	953618	G G	GCTCCGTC others(3): Show GCTCCGTCTGC	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA19066.hp2 HG04115.hp1 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0002 a0001c0002t0002 a0001c0003t0002	a0001c0002t0002g0240 a0001c0003t0002g0238 a0001c0002t0002g0240 a0001c0003t0002g0238	2	268	0.0075	10	c.68- others(25): Show c.68-5796_68-5787dupCCGTCTGCCT	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2B1_chr17_35582322_35731413	35583514	T T	TTCTCTCT others(3): Show TTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0209 a0001c0002t0001g0209	1	372	0.0027	10	c.-39 others(21): Show c.-3938_-3937insTCTCTCTCTC	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding		3807		chr17	TogoVar
AP2B1_chr17_35582322_35731413	35583514	T T	TTTTCTCT others(3): Show TTTTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0249 a0001c0002t0001g0249	1	372	0.0027	10	c.-39 others(21): Show c.-3938_-3937insTTTCTCTCTC	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding		3807		chr17	TogoVar
AP2B1_chr17_35582322_35731413	35612878	G G	GCACACAC others(3): Show GCACACACACA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0158 a0001c0001t0007g0158	1	372	0.0027	10	c.525 others(27): Show c.525+4492_525+4493insACACACACAC	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
AP2B1_chr17_35582322_35731413	35648743	A A	AGTGTGTG others(3): Show AGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG00735.hp2 others(19): Show HG00558.hp2 HG00597.hp1 HG00735.hp2 HG01109.hp1 HG01978.hp2 HG02055.hp1 HG02129.hp1 HG02572.hp2 HG02615.hp2 HG02976.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 NA18942.hp2 NA18967.hp1 NA18969.hp2 NA18995.hp1 NA19066.hp1 NA19079.hp1 NA19081.hp2 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0011 a0001c0002t0001 a0001c0002t0011	a0001c0002t0001g0194 a0001c0002t0001g0200 a0001c0002t0001g0220 others(19): Show a0001c0002t0001g0194 a0001c0002t0001g0200 a0001c0002t0001g0220 a0001c0002t0001g0222 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0242 a0001c0002t0001g0244 a0001c0002t0001g0252 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0273 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0312 a0001c0002t0001g0314 a0001c0002t0011g0192 a0001c0002t0011g0231	22	372	0.0591	10	c.153 others(29): Show c.1537-1765_1537-1756dupTGTGTGTGTG	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
AP2B1_chr17_35582322_35731413	35720545	T T	TTATATAT others(3): Show TTATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02647.hp2 HG01243.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0114 a0001c0001t0002g0115	2	372	0.0054	10	c.278 others(29): Show c.2782-3060_2782-3051dupATATATATAT	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
AP2B1_chr17_35582322_35731413	35720573	A A	ATATATAT others(3): Show ATATATATATT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0155 a0001c0001t0005g0155	1	372	0.0027	10	c.278 others(29): Show c.2782-3051_2782-3050insATATATATTT	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
AP2B1_chr17_35582322_35731413	35720573	A A	ATATATAT others(3): Show ATATATATTTT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0140 a0001c0001t0005g0140	1	372	0.0027	10	c.278 others(29): Show c.2782-3051_2782-3050insATATATTTTT	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
AP2B1_chr17_35582322_35731413	35720573	A A	ATATATTT others(3): Show ATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0141 a0001c0001t0005g0141	1	372	0.0027	10	c.278 others(29): Show c.2782-3051_2782-3050insATATTTTTTT	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
AP2M1_chr3_184169855_184189091	184187217	A A	AGTTTTGT others(3): Show AGTTTTGTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02258.hp2 HG02572.hp1 others(11): Show HG02145.hp2 HG02258.hp2 HG02572.hp1 HG02723.hp2 HG02818.hp1 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03516.hp1 NA18522.hp1 NA18906.hp2 NA19043.hp2 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0007 a0001c0002t0002g0033 a0001c0002t0002g0007 a0001c0002t0002g0033	14	422	0.0332	10	c.36 others(21): Show c.3601_*3602insGTTTTGTTTT	AP2M1	ENSG00000161203.14	transcript	ENST00000292807.9	protein_coding		3127		chr3	TogoVar
AP2S1_chr19_46833167_46855846	46833427	A A	AAAGAGAA others(3): Show AAAGAGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01106.hp1 HG01884.hp2 others(5): Show HG00735.hp2 HG01106.hp1 HG01884.hp2 HG02145.hp1 HG02717.hp1 HG03486.hp1 HG03540.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0076 a0001c0001t0001g0261 a0001c0001t0001g0300 others(5): Show a0001c0001t0001g0076 a0001c0001t0001g0261 a0001c0001t0001g0300 a0001c0001t0002g0021 a0001c0001t0002g0218 a0001c0001t0002g0256 a0001c0001t0002g0280 a0001c0001t0004g0212	8	424	0.0189	10	c.50 others(21): Show c.5019_*5020insCTCTTCTCTT	AP2S1	ENSG00000042753.12	transcript	ENST00000263270.11	protein_coding		4739		chr19	TogoVar
AP2S1_chr19_46833167_46855846	46839286	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	424	0.0024	10	c.267 others(25): Show c.267+169_267+178dupTTTTTTTTTT	AP2S1	ENSG00000042753.12	transcript	ENST00000263270.11	protein_coding	3/4			chr19	TogoVar
AP3B1_chr5_77997326_78299698	78023439	C C	CAAGAAAA others(3): Show CAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01168.hp1 HG01258.hp1 others(31): Show HG00597.hp2 HG01168.hp1 HG01258.hp1 HG01346.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG02004.hp2 HG02015.hp2 HG02074.hp2 HG02083.hp1 HG02148.hp1 HG02523.hp2 HG03516.hp2 HG03704.hp2 HG04184.hp2 HG04228.hp1 NA18747.hp1 NA18950.hp1 NA18961.hp2 NA18970.hp1 NA18972.hp1 NA18973.hp1 NA18979.hp1 NA18988.hp1 NA18992.hp2 NA18995.hp1 NA18998.hp2 NA19002.hp1 NA19009.hp2 NA19057.hp2 NA19063.hp1 NA19083.hp1 NA20129.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0010 a0002c0003 a0006c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0004t0002 a0001c0005t0002 a0001c0010t0002 a0002c0003t0002 a0006c0013t0002	a0001c0001t0001g0013 a0001c0001t0002g0012 a0001c0001t0002g0014 others(31): Show a0001c0001t0001g0013 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0123 a0001c0001t0002g0159 a0001c0001t0003g0121 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0002g0162 a0001c0004t0002g0006 a0001c0005t0002g0188 a0001c0010t0002g0024 a0002c0003t0002g0058 a0006c0013t0002g0193	34	226	0.1504	10	c.289 others(29): Show c.2895-2660_2895-2651dupTTCTTTTCTT	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	24/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78126504	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01884.hp2 HG02895.hp1 others(4): Show HG00642.hp2 HG01884.hp2 HG02895.hp1 HG03139.hp1 HG03540.hp1 NA18522.hp2 NA18906.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0003c0007 a0003c0008 a0001c0004 a0003c0007 a0003c0008	a0001c0004t0002 a0003c0007t0002 a0003c0008t0002 a0001c0004t0002 a0003c0007t0002 a0003c0008t0002	a0001c0004t0002g0185 a0003c0007t0002g0072 a0003c0007t0002g0079 others(4): Show a0001c0004t0002g0185 a0003c0007t0002g0072 a0003c0007t0002g0079 a0003c0007t0002g0148 a0003c0008t0002g0035 a0003c0008t0002g0036 a0003c0008t0002g0039	7	226	0.0310	10	c.196 others(29): Show c.1968+1516_1968+1525dupTTTTTTTTTT	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	17/26			chr5	TogoVar

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