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
AOC2_chr17_42839580_42855707	42844625	C C	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01496.hp1 NA20805.hp1 HG01496.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	2	290	0.0069	0	c.-2C others(2): Show c.-2C>A	AOC2	ENSG00000131480.9	transcript	ENST00000253799.8	protein_coding	1/4	2		chr17	TogoVar
AOC3_chr17_42846199_42863124	42851320	T T	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18939.hp1 NA18984.hp2 NA18939.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0001 a0001c0001t0008g0001	2	284	0.0070	0	c.-24 others(3): Show c.-24T>G	AOC3	ENSG00000131471.7	transcript	ENST00000308423.7	protein_coding	1/4	24		chr17	TogoVar
AP1AR_chr4_112226787_112278110	112231805	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0002 a0001c0001t0020g0002	1	398	0.0025	0	c.-28 others(4): Show c.-287G>A	AP1AR	ENSG00000138660.12	transcript	ENST00000274000.10	protein_coding	1/10	287		chr4	TogoVar
AP1AR_chr4_112226787_112278110	112231972	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0004 a0001c0001t0021g0004	1	398	0.0025	0	c.-12 others(4): Show c.-120G>A	AP1AR	ENSG00000138660.12	transcript	ENST00000274000.10	protein_coding	1/10	120		chr4	TogoVar
AP1AR_chr4_112226787_112278110	112231987	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0005 a0001c0001t0040g0005	1	398	0.0025	0	c.-10 others(4): Show c.-105C>T	AP1AR	ENSG00000138660.12	transcript	ENST00000274000.10	protein_coding	1/10	105		chr4	TogoVar
AP1AR_chr4_112226787_112278110	112232080	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0060 a0001c0001t0022g0060	1	398	0.0025	0	c.-12 others(3): Show c.-12G>A	AP1AR	ENSG00000138660.12	transcript	ENST00000274000.10	protein_coding	1/10	12		chr4	TogoVar
AP1B1_chr22_29322680_29393570	29388448	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0358 a0001c0001t0015g0358	1	378	0.0027	0	c.-52 others(3): Show c.-52C>T	AP1B1	ENSG00000100280.17	transcript	ENST00000357586.7	protein_coding	1/23	21205		chr22	TogoVar
AP1B1_chr22_29322680_29393570	29388523	C C	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0013 a0001c0001t0010g0013	1	378	0.0027	0	c.-12 others(4): Show c.-127G>C	AP1B1	ENSG00000100280.17	transcript	ENST00000357586.7	protein_coding	1/23	21280		chr22	TogoVar
AP1M1_chr19_16192911_16250906	16197975	T T	TCGCTGCC others(18): Show TCGCTGCCGCCGCCACCGCCCTCGGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00423.hp2 others(149): Show HG00099.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01975.hp1 HG01978.hp2 HG02015.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03669.hp1 HG03688.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18939.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18948.hp2 NA18949.hp2 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18965.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18978.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18988.hp1 NA18997.hp2 NA19011.hp1 NA19054.hp2 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19064.hp2 NA19079.hp2 NA19080.hp2 NA19084.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(80): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0115 a0001c0001t0116 a0001c0001t0117 a0001c0001t0118 a0001c0001t0119 a0001c0001t0120 a0001c0001t0122 a0001c0001t0123 a0001c0001t0124 a0001c0001t0125 a0001c0001t0126 a0001c0001t0127 a0001c0001t0128 a0001c0001t0129 a0001c0001t0130 a0001c0001t0131 a0001c0001t0132 a0001c0001t0133 a0001c0001t0134 a0001c0001t0135 a0001c0001t0136 a0001c0001t0137 a0001c0001t0138 a0001c0001t0139 a0001c0001t0140 a0001c0001t0141 a0001c0001t0142 a0001c0001t0143 a0001c0001t0144 a0001c0001t0145 a0001c0001t0146 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 a0001c0004t0121	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0037 others(141): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0004g0226 a0001c0001t0004g0229 a0001c0001t0004g0237 a0001c0001t0004g0239 a0001c0001t0004g0241 a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0004g0256 a0001c0001t0004g0257 a0001c0001t0006g0001 a0001c0001t0006g0024 a0001c0001t0006g0025 a0001c0001t0008g0228 a0001c0001t0008g0260 a0001c0001t0008g0261 a0001c0001t0008g0262 a0001c0001t0008g0263 a0001c0001t0009g0214 a0001c0001t0009g0215 a0001c0001t0009g0217 a0001c0001t0009g0218 a0001c0001t0009g0219 a0001c0001t0014g0035 a0001c0001t0014g0036 a0001c0001t0014g0039 a0001c0001t0014g0061 a0001c0001t0018g0038 a0001c0001t0018g0072 a0001c0001t0018g0081 a0001c0001t0019g0046 a0001c0001t0019g0068 a0001c0001t0019g0086 a0001c0001t0020g0278 a0001c0001t0020g0279 a0001c0001t0020g0280 a0001c0001t0029g0017 a0001c0001t0029g0018 a0001c0001t0030g0019 a0001c0001t0030g0020 a0001c0001t0031g0247 a0001c0001t0031g0258 a0001c0001t0032g0273 a0001c0001t0032g0283 a0001c0001t0033g0264 a0001c0001t0033g0276 a0001c0001t0034g0048 a0001c0001t0034g0050 a0001c0001t0035g0030 a0001c0001t0035g0049 a0001c0001t0036g0277 a0001c0001t0036g0281 a0001c0001t0037g0233 a0001c0001t0037g0234 a0001c0001t0038g0004 a0001c0001t0039g0041 a0001c0001t0039g0084 a0001c0001t0040g0052 a0001c0001t0040g0058 a0001c0001t0115g0224 a0001c0001t0116g0251 a0001c0001t0117g0244 a0001c0001t0118g0282 a0001c0001t0119g0271 a0001c0001t0120g0270 a0001c0001t0122g0274 a0001c0001t0123g0259 a0001c0001t0124g0011 a0001c0001t0125g0013 a0001c0001t0126g0014 a0001c0001t0127g0012 a0001c0001t0128g0238 a0001c0001t0129g0232 a0001c0001t0130g0225 a0001c0001t0131g0236 a0001c0001t0132g0230 a0001c0001t0133g0235 a0001c0001t0134g0243 a0001c0001t0135g0272 a0001c0001t0136g0250 a0001c0001t0137g0248 a0001c0001t0138g0242 a0001c0001t0139g0275 a0001c0001t0140g0245 a0001c0001t0141g0267 a0001c0001t0142g0266 a0001c0001t0143g0265 a0001c0001t0144g0269 a0001c0001t0145g0268 a0001c0001t0146g0255 a0001c0001t0147g0240 a0001c0001t0148g0254 a0001c0001t0149g0231 a0001c0001t0150g0015 a0001c0001t0151g0227 a0001c0001t0152g0079 a0001c0001t0153g0033 a0001c0001t0154g0066 a0001c0001t0155g0056 a0001c0001t0156g0047 a0001c0001t0157g0292 a0001c0001t0158g0063 a0001c0001t0159g0222 a0001c0001t0160g0220 a0001c0001t0161g0045 a0001c0001t0162g0051 a0001c0001t0163g0031 a0001c0001t0164g0293 a0001c0001t0165g0032 a0001c0001t0166g0286 a0001c0001t0167g0023 a0001c0001t0168g0221 a0001c0001t0169g0223 a0001c0001t0170g0057 a0001c0001t0171g0034 a0001c0001t0172g0055 a0001c0001t0173g0054 a0001c0001t0174g0080 a0001c0001t0175g0083 a0001c0001t0176g0053 a0001c0004t0121g0249	152	308	0.4935	25	c.-43 others(32): Show c.-43_-19dupCCGCCACCGCCCTCGGCCGCTGCCG	AP1M1	ENSG00000072958.9	transcript	ENST00000291439.8	protein_coding	1/12	18	INFO_REALIGN_3_PRIME	chr19	TogoVar
AP1M1_chr19_16192911_16250906	16197975	T T	TCGCTGCC others(43): Show TCGCTGCCGCCGCCACCGCCCTCGGCCGCTGCCGCCGCCACCGCCCTCGG C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0177 a0001c0001t0177	a0001c0001t0177g0216 a0001c0001t0177g0216	1	308	0.0033	50	c.-19 others(57): Show c.-19_-18insCCGCCACCGCCCTCGGCCGCTGCCGCCGCCACCGCCCT CGGCCGCTGCCG	AP1M1	ENSG00000072958.9	transcript	ENST00000291439.8	protein_coding	1/12	18	INFO_REALIGN_3_PRIME	chr19	TogoVar
AP1M1_chr19_16192911_16250906	16198008	G G	GCCGCCAC others(18): Show GCCGCCACCGCCCTCGGCCGCTGCCA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0114 a0001c0001t0114	a0001c0001t0114g0067 a0001c0001t0114g0067	1	308	0.0033	25	c.-19 others(32): Show c.-19_-18insCCGCCACCGCCCTCGGCCGCTGCCA	AP1M1	ENSG00000072958.9	transcript	ENST00000291439.8	protein_coding	1/12	18		chr19	TogoVar
AP1M2_chr19_10567671_10592312	10587232	G G	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0043 a0001c0002t0008g0043	1	394	0.0025	0	c.-1C others(2): Show c.-1C>A	AP1M2	ENSG00000129354.12	transcript	ENST00000250244.11	protein_coding	1/12	1		chr19	TogoVar
AP1M2_chr19_10567671_10592312	10587259	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0340 a0001c0001t0011g0340	1	394	0.0025	0	c.-28 others(3): Show c.-28C>T	AP1M2	ENSG00000129354.12	transcript	ENST00000250244.11	protein_coding	1/12	28		chr19	TogoVar
AP1M2_chr19_10567671_10592312	10587262	A A	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0341 a0001c0002t0012g0341	1	394	0.0025	0	c.-31 others(3): Show c.-31T>C	AP1M2	ENSG00000129354.12	transcript	ENST00000250244.11	protein_coding	1/12	31		chr19	TogoVar
AP1M2_chr19_10567671_10592312	10587263	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0341 a0001c0002t0012g0341	1	394	0.0025	0	c.-32 others(3): Show c.-32C>T	AP1M2	ENSG00000129354.12	transcript	ENST00000250244.11	protein_coding	1/12	32		chr19	TogoVar
AP1M2_chr19_10567671_10592312	10587268	C C	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02523.hp2 NA18946.hp1 NA18968.hp1 others(8): Show HG02523.hp2 NA18946.hp1 NA18968.hp1 NA18970.hp1 NA18981.hp1 NA18985.hp2 NA18995.hp2 NA19002.hp2 NA19010.hp2 NA19068.hp2 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0007 a0001c0002t0004 a0001c0002t0007	a0001c0002t0004g0015 a0001c0002t0004g0034 a0001c0002t0004g0035 others(7): Show a0001c0002t0004g0015 a0001c0002t0004g0034 a0001c0002t0004g0035 a0001c0002t0004g0037 a0001c0002t0004g0038 a0001c0002t0004g0039 a0001c0002t0004g0040 a0001c0002t0004g0041 a0001c0002t0004g0042 a0001c0002t0007g0036	11	394	0.0279	0	c.-37 others(3): Show c.-37G>C	AP1M2	ENSG00000129354.12	transcript	ENST00000250244.11	protein_coding	1/12	37		chr19	TogoVar
AP1S1_chr7_101149476_101166276	101154509	T T	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0014 a0001c0001t0007g0014	1	432	0.0023	0	c.-6T others(2): Show c.-6T>A	AP1S1	ENSG00000106367.15	transcript	ENST00000337619.11	protein_coding	1/5	6		chr7	TogoVar
AP1S2_chrX_15820806_15859813	15854690	C C	CG CG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0038 a0001c0001t0009g0038	1	318	0.0031	1	c.-4d others(3): Show c.-4dupC	AP1S2	ENSG00000182287.15	transcript	ENST00000672987.1	protein_coding	1/6	2167		chrX	TogoVar
AP2A1_chr19_49762001_49812114	49767008	A A	AGCCC AGCCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00280.hp2 HG00621.hp2 HG00642.hp2 others(42): Show HG00280.hp2 HG00621.hp2 HG00642.hp2 HG01081.hp2 HG01167.hp2 HG01169.hp1 HG01496.hp1 HG01952.hp2 HG01975.hp1 HG02055.hp1 HG02109.hp2 HG02155.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02886.hp2 HG03225.hp1 HG03491.hp1 HG03492.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG04115.hp2 NA18947.hp1 NA18952.hp1 NA18955.hp1 NA18959.hp1 NA18960.hp2 NA18969.hp1 NA18969.hp2 NA18990.hp2 NA18992.hp2 NA19000.hp1 NA19063.hp1 NA19064.hp2 NA19077.hp2 NA19085.hp2 NA19088.hp1 NA19091.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0007 others(1): Show a0001c0001 a0001c0006 a0001c0007 a0001c0012	a0001c0001t0002 a0001c0006t0002 a0001c0007t0002 others(1): Show a0001c0001t0002 a0001c0006t0002 a0001c0007t0002 a0001c0012t0002	a0001c0001t0002g0006 a0001c0001t0002g0019 a0001c0001t0002g0020 others(41): Show a0001c0001t0002g0006 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0208 a0001c0006t0002g0039 a0001c0007t0002g0035 a0001c0012t0002g0049	45	342	0.1316	4	c.-12 others(13): Show c.-125_-122dupGCCC	AP2A1	ENSG00000196961.13	transcript	ENST00000354293.10	protein_coding	1/23	121	INFO_REALIGN_3_PRIME	chr19	TogoVar
AP2A2_chr11_920870_1017240	925940	C C	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0165 a0001c0004t0010g0165	1	268	0.0037	0	c.-82 others(3): Show c.-82C>A	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	1/22	82		chr11	TogoVar
AP2A2_chr11_920870_1017240	925949	C C	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02056.hp2 HG02135.hp2 HG02056.hp2 HG02135.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0185 a0001c0003t0008g0189 a0001c0003t0008g0185 a0001c0003t0008g0189	2	268	0.0075	0	c.-73 others(3): Show c.-73C>A	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	1/22	73		chr11	TogoVar
AP2A2_chr11_920870_1017240	925967	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0020 a0001c0001t0019g0020	1	268	0.0037	0	c.-55 others(3): Show c.-55C>T	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	1/22	55		chr11	TogoVar
AP2B1_chr17_35582322_35731413	35587338	C C	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18942.hp2 NA19081.hp2 NA18942.hp2 NA19081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0192 a0001c0002t0011g0231 a0001c0002t0011g0192 a0001c0002t0011g0231	2	372	0.0054	0	c.-11 others(4): Show c.-114C>A	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	1/22	6693		chr17	TogoVar
AP2S1_chr19_46833167_46855846	46850816	A A	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0057 a0001c0001t0006g0057	1	424	0.0024	0	c.-50 others(3): Show c.-50T>C	AP2S1	ENSG00000042753.12	transcript	ENST00000263270.11	protein_coding	1/5	50		chr19	TogoVar
AP3B2_chr15_82654281_82714875	82709716	A A	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0018 a0001c0001t0006g0018	1	368	0.0027	0	c.-10 others(3): Show c.-10T>A	AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	1/27	10		chr15	TogoVar
AP3B2_chr15_82654281_82714875	82709783	G G	GCCGGT GCCGGT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02083.hp2 NA18975.hp2 NA18979.hp2 others(2): Show HG02083.hp2 NA18975.hp2 NA18979.hp2 NA19009.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0015 others(2): Show a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017	5	368	0.0136	5	c.-82 others(12): Show c.-82_-78dupACCGG	AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	1/27	78		chr15	TogoVar
AP3B2_chr15_82654281_82714875	82709806	A A	AGGC AGGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01261.hp2 HG01070.hp1 HG01071.hp1 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0012	3	368	0.0082	3	c.-10 others(12): Show c.-103_-101dupGCC	AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	1/27	101		chr15	TogoVar
AP3B2_chr15_82654281_82714875	82709857	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0362 a0001c0001t0008g0362	1	368	0.0027	0	c.-15 others(4): Show c.-151C>T	AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	1/27	151		chr15	TogoVar
AP3B2_chr15_82654281_82714875	82709864	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00639.hp1 HG00735.hp2 HG01361.hp1 others(2): Show HG00639.hp1 HG00735.hp2 HG01361.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 others(2): Show a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009	5	368	0.0136	0	c.-15 others(4): Show c.-158G>A	AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	1/27	158		chr15	TogoVar
AP3D1_chr19_2095988_2156566	2151432	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0013 a0001c0014t0013	a0001c0014t0013g0007 a0001c0014t0013g0007	1	406	0.0025	0	c.-98 others(3): Show c.-98G>A	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	1/32	98		chr19	TogoVar
AP3D1_chr19_2095988_2156566	2151465	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19005.hp2 NA19065.hp1 NA19005.hp2 NA19065.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0348 a0001c0003t0009g0349 a0001c0003t0009g0348 a0001c0003t0009g0349	2	406	0.0049	0	c.-13 others(4): Show c.-131C>T	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	1/32	131		chr19	TogoVar
AP3D1_chr19_2095988_2156566	2151511	G G	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00609.hp1 others(35): Show HG00423.hp2 HG00438.hp1 HG00609.hp1 HG00621.hp2 HG01256.hp1 HG01981.hp1 HG02004.hp2 HG02027.hp1 HG02071.hp2 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02273.hp2 HG02523.hp2 HG03017.hp1 HG03490.hp1 HG03492.hp1 HG03669.hp1 HG03704.hp2 NA18612.hp1 NA18747.hp1 NA18945.hp1 NA18946.hp2 NA18954.hp1 NA18962.hp2 NA18964.hp1 NA18969.hp2 NA18974.hp1 NA18978.hp2 NA18983.hp2 NA18985.hp1 NA18990.hp2 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19066.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0015 others(1): Show a0001c0001 a0001c0006 a0001c0015 a0001c0017	a0001c0001t0003 a0001c0006t0015 a0001c0015t0003 others(1): Show a0001c0001t0003 a0001c0006t0015 a0001c0015t0003 a0001c0017t0003	a0001c0001t0003g0005 a0001c0001t0003g0350 a0001c0001t0003g0351 others(34): Show a0001c0001t0003g0005 a0001c0001t0003g0350 a0001c0001t0003g0351 a0001c0001t0003g0352 a0001c0001t0003g0353 a0001c0001t0003g0354 a0001c0001t0003g0355 a0001c0001t0003g0356 a0001c0001t0003g0357 a0001c0001t0003g0358 a0001c0001t0003g0359 a0001c0001t0003g0360 a0001c0001t0003g0361 a0001c0001t0003g0362 a0001c0001t0003g0364 a0001c0001t0003g0365 a0001c0001t0003g0367 a0001c0001t0003g0368 a0001c0001t0003g0369 a0001c0001t0003g0370 a0001c0001t0003g0371 a0001c0001t0003g0372 a0001c0001t0003g0373 a0001c0001t0003g0374 a0001c0001t0003g0375 a0001c0001t0003g0376 a0001c0001t0003g0377 a0001c0001t0003g0378 a0001c0001t0003g0379 a0001c0001t0003g0380 a0001c0001t0003g0381 a0001c0001t0003g0382 a0001c0001t0003g0383 a0001c0001t0003g0385 a0001c0006t0015g0384 a0001c0015t0003g0363 a0001c0017t0003g0366	38	406	0.0936	0	c.-17 others(4): Show c.-177C>G	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	1/32	177		chr19	TogoVar
AP3D1_chr19_2095988_2156566	2151516	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00735.hp1 HG01515.hp2 HG01517.hp1 others(9): Show HG00735.hp1 HG01515.hp2 HG01517.hp1 HG02735.hp2 HG03225.hp2 HG03239.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03710.hp2 HG03942.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0010 a0002c0007t0004 a0001c0001t0010 a0002c0007t0004	a0001c0001t0010g0396 a0001c0001t0010g0397 a0002c0007t0004g0386 others(9): Show a0001c0001t0010g0396 a0001c0001t0010g0397 a0002c0007t0004g0386 a0002c0007t0004g0387 a0002c0007t0004g0388 a0002c0007t0004g0389 a0002c0007t0004g0390 a0002c0007t0004g0391 a0002c0007t0004g0392 a0002c0007t0004g0393 a0002c0007t0004g0394 a0002c0007t0004g0395	12	406	0.0296	0	c.-18 others(4): Show c.-182C>T	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	1/32	182		chr19	TogoVar
AP3D1_chr19_2095988_2156566	2151535	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0006 a0001c0002t0012g0006	2	406	0.0049	0	c.-20 others(4): Show c.-201C>T	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	1/32	201		chr19	TogoVar
AP3M2_chr8_42148063_42176183	42153084	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(178): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01123.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02280.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG03704.hp2 HG03927.hp1 HG03942.hp1 NA18612.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp2 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18949.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA18987.hp1 NA18990.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA19000.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19043.hp2 NA19057.hp2 NA19060.hp2 NA19062.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19075.hp1 NA19075.hp2 NA19076.hp2 NA19078.hp1 NA19078.hp2 NA19081.hp2 NA19085.hp1 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022	a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0008 others(88): Show a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0017 a0001c0001t0002g0024 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0052 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0140 a0001c0001t0003g0002 a0001c0001t0003g0011 a0001c0001t0003g0026 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0004g0025 a0001c0001t0004g0027 a0001c0001t0004g0030 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0004g0058 a0001c0001t0004g0122 a0001c0001t0004g0123 a0001c0001t0004g0124 a0001c0001t0004g0125 a0001c0001t0004g0126 a0001c0001t0004g0127 a0001c0001t0004g0128 a0001c0001t0004g0129 a0001c0001t0004g0130 a0001c0001t0004g0132 a0001c0001t0004g0133 a0001c0001t0004g0134 a0001c0001t0004g0139 a0001c0001t0004g0145 a0001c0001t0004g0157 a0001c0001t0007g0023 a0001c0001t0007g0038 a0001c0001t0007g0097 a0001c0001t0010g0005 a0001c0001t0010g0007 a0001c0001t0010g0054 a0001c0001t0013g0009 a0001c0001t0013g0024 a0001c0001t0014g0026 a0001c0001t0014g0152 a0001c0001t0016g0005 a0001c0001t0016g0008 a0001c0001t0018g0017 a0001c0001t0019g0131 a0001c0001t0020g0005 a0001c0001t0021g0105 a0001c0001t0022g0042	181	392	0.4617	0	c.-94 others(3): Show c.-94G>A	AP3M2	ENSG00000070718.13	transcript	ENST00000396926.8	protein_coding	1/9	1604		chr8	TogoVar
AP3M2_chr8_42148063_42176183	42153084	G G	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0068 a0001c0001t0026g0068	1	392	0.0026	0	c.-94 others(3): Show c.-94G>T	AP3M2	ENSG00000070718.13	transcript	ENST00000396926.8	protein_coding	1/9	1604		chr8	TogoVar
AP3M2_chr8_42148063_42176183	42153086	G G	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01123.hp1 HG01346.hp1 HG02486.hp1 others(1): Show HG01123.hp1 HG01346.hp1 HG02486.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0014 a0001c0001t0011g0014	4	392	0.0102	0	c.-92 others(3): Show c.-92G>C	AP3M2	ENSG00000070718.13	transcript	ENST00000396926.8	protein_coding	1/9	1602		chr8	TogoVar
AP3M2_chr8_42148063_42176183	42154668	T T	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03654.hp1 HG03490.hp2 HG03492.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0010 a0001c0001t0015g0010	3	392	0.0077	0	c.-20 others(3): Show c.-20T>C	AP3M2	ENSG00000070718.13	transcript	ENST00000396926.8	protein_coding	2/9	20		chr8	TogoVar
AP3S1_chr5_115836935_115919081	115842024	G G	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG02145.hp1 others(2): Show HG01256.hp1 HG01258.hp2 HG02145.hp1 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 others(2): Show a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0092 a0001c0001t0003g0157	5	378	0.0132	0	c.-14 others(3): Show c.-14G>C	AP3S1	ENSG00000177879.17	transcript	ENST00000316788.12	protein_coding	1/6	14		chr5	TogoVar
AP4B1_chr1_113889194_113909799	113904719	T T	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0082 a0001c0001t0009g0082	1	434	0.0023	0	c.-2A others(2): Show c.-2A>C	AP4B1	ENSG00000134262.14	transcript	ENST00000369569.6	protein_coding	1/10	2		chr1	TogoVar
AP4E1_chr15_50903683_51010895	50908702	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18986.hp2 NA19060.hp2 NA18986.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0215 a0001c0001t0019g0230 a0001c0001t0019g0215 a0001c0001t0019g0230	2	392	0.0051	0	c.-77 others(3): Show c.-77C>T	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	1/21	77		chr15	TogoVar
AP4E1_chr15_50903683_51010895	50908713	GGCCGGGC others(5): Show GGCCGGGCATGAA	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0304 a0001c0001t0029g0304	1	392	0.0026	-12	c.-58 others(19): Show c.-58_-47delATGAAGCCGGGC	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	1/21	47	INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4E1_chr15_50903683_51010895	50908741	G G	GATCGCGG others(11): Show GATCGCGGGCGGCGGCGGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0020 a0002c0003t0020	a0002c0003t0020g0008 a0002c0003t0020g0008	1	392	0.0026	18	c.-19 others(24): Show c.-19_-2dupATCGCGGGCGGCGGCGGC	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	1/21	1	INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4S1_chr14_31020649_31101450	31025703	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01891.hp1 HG02109.hp2 HG02559.hp1 others(3): Show HG01891.hp1 HG02109.hp2 HG02559.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0016 a0001c0001t0020 a0001c0001t0012 a0001c0001t0016 a0001c0001t0020	a0001c0001t0012g0199 a0001c0001t0012g0200 a0001c0001t0012g0201 others(3): Show a0001c0001t0012g0199 a0001c0001t0012g0200 a0001c0001t0012g0201 a0001c0001t0016g0197 a0001c0001t0016g0198 a0001c0001t0020g0202	6	346	0.0173	0	c.-15 others(4): Show c.-156G>A	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/6	40494		chr14	TogoVar
AP4S1_chr14_31020649_31101450	31025758	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0202 a0001c0001t0020g0202	1	346	0.0029	0	c.-10 others(4): Show c.-101G>A	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/6	40439		chr14	TogoVar
AP4S1_chr14_31020649_31101450	31025782	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00438.hp1 others(35): Show HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00673.hp1 HG01074.hp2 HG01192.hp2 HG02040.hp2 HG02083.hp2 HG02135.hp1 HG02280.hp2 HG02896.hp2 HG03540.hp2 HG03710.hp1 HG03927.hp1 HG04115.hp2 NA18612.hp2 NA18906.hp1 NA18942.hp2 NA18945.hp1 NA18947.hp1 NA18953.hp1 NA18954.hp1 NA18956.hp1 NA18972.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18991.hp2 NA18994.hp2 NA19005.hp1 NA19009.hp1 NA19011.hp2 NA19058.hp1 NA19065.hp2 NA19067.hp1 NA19076.hp2 NA19088.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0021 a0001c0001t0022 others(6): Show a0001c0001t0002 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028	a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0162 others(34): Show a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0196 a0001c0001t0002g0277 a0001c0001t0021g0001 a0001c0001t0022g0167 a0001c0001t0023g0181 a0001c0001t0024g0190 a0001c0001t0025g0186 a0001c0001t0026g0194 a0001c0001t0027g0164 a0001c0001t0028g0193	38	346	0.1098	0	c.-77 others(3): Show c.-77G>A	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/6	40415		chr14	TogoVar
AP5B1_chr11_65768898_65785976	65780637	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00280.hp2 HG00544.hp2 HG00609.hp2 others(51): Show HG00280.hp2 HG00544.hp2 HG00609.hp2 HG00673.hp2 HG01069.hp2 HG01081.hp1 HG01192.hp2 HG01261.hp2 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01928.hp1 HG01943.hp1 HG02027.hp2 HG02083.hp1 HG02109.hp1 HG02683.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 NA18945.hp1 NA18946.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18962.hp1 NA18965.hp1 NA18967.hp1 NA18968.hp1 NA18977.hp2 NA18983.hp1 NA18986.hp1 NA18995.hp2 NA19003.hp2 NA19004.hp1 NA19007.hp2 NA19062.hp1 NA19064.hp2 NA19070.hp2 NA19076.hp2 NA19086.hp2 NA19091.hp1 NA19091.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0013c0015 a0001c0001 a0013c0015	a0001c0001t0004 a0001c0001t0010 a0001c0001t0014 others(2): Show a0001c0001t0004 a0001c0001t0010 a0001c0001t0014 a0001c0001t0028 a0013c0015t0027	a0001c0001t0004g0004 a0001c0001t0010g0010 a0001c0001t0014g0016 others(2): Show a0001c0001t0004g0004 a0001c0001t0010g0010 a0001c0001t0014g0016 a0001c0001t0028g0031 a0013c0015t0027g0030	54	424	0.1274	0	c.-46 others(3): Show c.-46G>A	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	1/2	46		chr11	TogoVar
AP5B1_chr11_65768898_65785976	65780829	G G	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18971.hp1 NA19011.hp1 NA18971.hp1 NA19011.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0019 a0003c0002t0019	a0003c0002t0019g0021 a0003c0002t0019g0021	2	424	0.0047	0	c.-23 others(4): Show c.-238C>A	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	1/2	238		chr11	TogoVar
AP5B1_chr11_65768898_65785976	65780863	G G	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18951.hp2 NA18990.hp1 NA18951.hp2 NA18990.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0018 a0001c0004t0018	a0001c0004t0018g0020 a0001c0004t0018g0020	2	424	0.0047	0	c.-27 others(4): Show c.-272C>A	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	1/2	272		chr11	TogoVar
AP5B1_chr11_65768898_65785976	65780867	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01884.hp2 HG02572.hp1 HG02630.hp2 others(6): Show HG01884.hp2 HG02572.hp1 HG02630.hp2 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0025 a0001c0001t0045 a0001c0001t0012 a0001c0001t0025 a0001c0001t0045	a0001c0001t0012g0014 a0001c0001t0025g0028 a0001c0001t0045g0066 a0001c0001t0012g0014 a0001c0001t0025g0028 a0001c0001t0045g0066	9	424	0.0212	0	c.-27 others(4): Show c.-276C>T	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	1/2	276		chr11	TogoVar

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