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	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	chr	external
APCDD1L_chr20_58454101_58520399	58467504	C C	T T	missense_variant missense_variant	MODERATE	HG00323.hp1 HG00323.hp1	a0013 a0013	a0013c0016 a0013c0016	a0013c0016t0023 a0013c0016t0023	a0013c0016t0023g0343 a0013c0016t0023g0343	1	376	0.0027	c.343 others(3): Show c.343G>A	p.Ala others(6): Show p.Ala115Thr	APCDD1L	ENSG00000198768.11	transcript	ENST00000371149.8	protein_coding	3/4	1035/3887	343/1506	115/501	chr20	TogoVar
APCDD1L_chr20_58454101_58520399	58467599	C C	T T	missense_variant missense_variant	MODERATE	HG00738.hp2 HG02258.hp2 HG02630.hp1 others(5): Show HG00738.hp2 HG02258.hp2 HG02630.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1	a0006 a0007 a0006 a0007	a0006c0007 a0007c0010 a0006c0007 a0007c0010	a0006c0007t0001 a0006c0007t0003 a0007c0010t0004 others(1): Show a0006c0007t0001 a0006c0007t0003 a0007c0010t0004 a0007c0010t0009	a0006c0007t0001g0152 a0006c0007t0001g0162 a0006c0007t0003g0041 others(4): Show a0006c0007t0001g0152 a0006c0007t0001g0162 a0006c0007t0003g0041 a0006c0007t0003g0103 a0006c0007t0003g0113 a0007c0010t0004g0004 a0007c0010t0009g0106	8	376	0.0213	c.248 others(3): Show c.248G>A	p.Arg others(5): Show p.Arg83Gln	APCDD1L	ENSG00000198768.11	transcript	ENST00000371149.8	protein_coding	3/4	940/3887	248/1506	83/501	chr20	TogoVar
APCDD1L_chr20_58454101_58520399	58467609	A A	G G	missense_variant missense_variant	MODERATE	HG00423.hp1 HG00558.hp1 HG00558.hp2 others(86): Show HG00423.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG01123.hp1 HG01255.hp1 HG01255.hp2 HG01361.hp2 HG01496.hp1 HG01891.hp1 HG01928.hp2 HG01943.hp2 HG01975.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02080.hp2 HG02129.hp2 HG02155.hp2 HG02273.hp2 HG02293.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG03098.hp1 HG03453.hp2 HG03654.hp2 HG03834.hp1 NA18747.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18955.hp2 NA18959.hp2 NA18964.hp1 NA18966.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18995.hp1 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19011.hp2 NA19012.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp2 NA19072.hp2 NA19079.hp1 NA19084.hp2 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp2 NA20300.hp2	a0003 a0004 a0005 others(1): Show a0003 a0004 a0005 a0011	a0003c0003 a0003c0005 a0004c0004 others(3): Show a0003c0003 a0003c0005 a0004c0004 a0004c0013 a0005c0006 a0011c0015	a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 others(23): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 a0003c0003t0008 a0003c0003t0010 a0003c0003t0013 a0003c0003t0014 a0003c0005t0001 a0003c0005t0005 a0003c0005t0010 a0003c0005t0012 a0004c0004t0001 a0004c0004t0002 a0004c0004t0003 a0004c0004t0004 a0004c0004t0005 a0004c0004t0006 a0004c0004t0007 a0004c0004t0017 a0004c0004t0038 a0004c0004t0049 a0004c0013t0001 a0005c0006t0001 a0005c0006t0003 a0011c0015t0003	a0003c0003t0001g0181 a0003c0003t0001g0186 a0003c0003t0001g0187 others(83): Show a0003c0003t0001g0181 a0003c0003t0001g0186 a0003c0003t0001g0187 a0003c0003t0001g0206 a0003c0003t0001g0212 a0003c0003t0001g0234 a0003c0003t0001g0244 a0003c0003t0001g0249 a0003c0003t0001g0273 a0003c0003t0001g0289 a0003c0003t0001g0314 a0003c0003t0001g0324 a0003c0003t0001g0326 a0003c0003t0001g0327 a0003c0003t0001g0333 a0003c0003t0001g0334 a0003c0003t0002g0215 a0003c0003t0002g0347 a0003c0003t0002g0356 a0003c0003t0003g0001 a0003c0003t0003g0002 a0003c0003t0003g0070 a0003c0003t0003g0071 a0003c0003t0003g0072 a0003c0003t0003g0074 a0003c0003t0003g0078 a0003c0003t0003g0084 a0003c0003t0003g0093 a0003c0003t0003g0117 a0003c0003t0003g0124 a0003c0003t0003g0127 a0003c0003t0004g0144 a0003c0003t0004g0149 a0003c0003t0004g0357 a0003c0003t0008g0315 a0003c0003t0010g0019 a0003c0003t0010g0023 a0003c0003t0010g0030 a0003c0003t0013g0368 a0003c0003t0013g0369 a0003c0003t0014g0021 a0003c0005t0001g0167 a0003c0005t0001g0191 a0003c0005t0001g0194 a0003c0005t0001g0205 a0003c0005t0001g0235 a0003c0005t0001g0237 a0003c0005t0001g0320 a0003c0005t0005g0262 a0003c0005t0005g0287 a0003c0005t0005g0288 a0003c0005t0005g0308 a0003c0005t0010g0025 a0003c0005t0012g0094 a0003c0005t0012g0111 a0004c0004t0001g0139 a0004c0004t0001g0252 a0004c0004t0001g0272 a0004c0004t0001g0293 a0004c0004t0001g0313 a0004c0004t0002g0178 a0004c0004t0003g0076 a0004c0004t0004g0003 a0004c0004t0004g0202 a0004c0004t0004g0217 a0004c0004t0005g0138 a0004c0004t0006g0060 a0004c0004t0007g0098 a0004c0004t0017g0221 a0004c0004t0038g0036 a0004c0004t0049g0160 a0004c0013t0001g0201 a0005c0006t0001g0182 a0005c0006t0001g0248 a0005c0006t0001g0263 a0005c0006t0001g0267 a0005c0006t0001g0276 a0005c0006t0001g0277 a0005c0006t0001g0292 a0005c0006t0001g0307 a0005c0006t0001g0331 a0005c0006t0001g0358 a0005c0006t0003g0080 a0005c0006t0003g0087 a0005c0006t0003g0099 a0011c0015t0003g0067	89	376	0.2367	c.238 others(3): Show c.238T>C	p.Tyr others(5): Show p.Tyr80His	APCDD1L	ENSG00000198768.11	transcript	ENST00000371149.8	protein_coding	3/4	930/3887	238/1506	80/501	chr20	TogoVar
APCDD1L_chr20_58454101_58520399	58470709	A A	G G	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(171): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01168.hp1 HG01192.hp1 HG01243.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01891.hp2 HG01943.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02027.hp1 HG02055.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02698.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18959.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18986.hp1 NA18987.hp1 NA18994.hp1 NA18995.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19074.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19086.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0004 a0006 others(3): Show a0001 a0004 a0006 a0011 a0012 a0013	a0001c0001 a0001c0009 a0001c0011 others(10): Show a0001c0001 a0001c0009 a0001c0011 a0001c0014 a0001c0017 a0001c0019 a0001c0020 a0004c0004 a0004c0013 a0006c0007 a0011c0015 a0012c0018 a0013c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(57): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0026 a0001c0001t0029 a0001c0001t0032 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0040 a0001c0001t0041 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0050 a0001c0001t0052 a0001c0001t0053 a0001c0009t0004 a0001c0009t0007 a0001c0011t0015 a0001c0014t0009 a0001c0017t0003 a0001c0019t0005 a0001c0020t0002 a0004c0004t0001 a0004c0004t0002 a0004c0004t0003 a0004c0004t0004 a0004c0004t0005 a0004c0004t0006 a0004c0004t0007 a0004c0004t0017 a0004c0004t0038 a0004c0004t0049 a0004c0013t0001 a0006c0007t0001 a0006c0007t0003 a0011c0015t0003 a0012c0018t0006 a0013c0016t0023	a0001c0001t0001g0006 a0001c0001t0001g0134 a0001c0001t0001g0136 others(168): Show a0001c0001t0001g0006 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0148 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0190 a0001c0001t0001g0204 a0001c0001t0001g0214 a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0241 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0279 a0001c0001t0001g0282 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0310 a0001c0001t0001g0323 a0001c0001t0001g0339 a0001c0001t0001g0348 a0001c0001t0001g0362 a0001c0001t0002g0179 a0001c0001t0002g0199 a0001c0001t0002g0211 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0271 a0001c0001t0002g0274 a0001c0001t0002g0278 a0001c0001t0002g0322 a0001c0001t0002g0325 a0001c0001t0002g0328 a0001c0001t0002g0354 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0052 a0001c0001t0003g0058 a0001c0001t0003g0069 a0001c0001t0003g0085 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0120 a0001c0001t0003g0130 a0001c0001t0003g0132 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0004g0180 a0001c0001t0004g0185 a0001c0001t0004g0200 a0001c0001t0004g0209 a0001c0001t0004g0210 a0001c0001t0004g0218 a0001c0001t0004g0222 a0001c0001t0004g0224 a0001c0001t0004g0236 a0001c0001t0004g0240 a0001c0001t0004g0243 a0001c0001t0004g0246 a0001c0001t0004g0309 a0001c0001t0004g0335 a0001c0001t0004g0337 a0001c0001t0004g0349 a0001c0001t0004g0350 a0001c0001t0005g0007 a0001c0001t0005g0137 a0001c0001t0005g0154 a0001c0001t0005g0159 a0001c0001t0005g0283 a0001c0001t0005g0340 a0001c0001t0005g0341 a0001c0001t0006g0068 a0001c0001t0006g0082 a0001c0001t0006g0088 a0001c0001t0006g0112 a0001c0001t0007g0056 a0001c0001t0007g0064 a0001c0001t0007g0077 a0001c0001t0007g0086 a0001c0001t0007g0114 a0001c0001t0007g0122 a0001c0001t0008g0143 a0001c0001t0008g0155 a0001c0001t0008g0156 a0001c0001t0008g0163 a0001c0001t0008g0203 a0001c0001t0008g0253 a0001c0001t0009g0039 a0001c0001t0009g0110 a0001c0001t0010g0022 a0001c0001t0010g0028 a0001c0001t0010g0029 a0001c0001t0011g0090 a0001c0001t0011g0091 a0001c0001t0011g0129 a0001c0001t0012g0051 a0001c0001t0013g0366 a0001c0001t0014g0031 a0001c0001t0016g0188 a0001c0001t0016g0269 a0001c0001t0017g0266 a0001c0001t0018g0013 a0001c0001t0019g0016 a0001c0001t0019g0018 a0001c0001t0020g0015 a0001c0001t0021g0020 a0001c0001t0021g0027 a0001c0001t0022g0083 a0001c0001t0022g0097 a0001c0001t0024g0229 a0001c0001t0026g0011 a0001c0001t0029g0017 a0001c0001t0032g0033 a0001c0001t0034g0105 a0001c0001t0036g0118 a0001c0001t0037g0044 a0001c0001t0040g0261 a0001c0001t0041g0251 a0001c0001t0044g0153 a0001c0001t0045g0172 a0001c0001t0046g0281 a0001c0001t0047g0140 a0001c0001t0050g0345 a0001c0001t0052g0364 a0001c0001t0053g0367 a0001c0009t0004g0225 a0001c0009t0007g0065 a0001c0009t0007g0066 a0001c0011t0015g0034 a0001c0011t0015g0121 a0001c0014t0009g0123 a0001c0017t0003g0131 a0001c0019t0005g0216 a0001c0020t0002g0342 a0004c0004t0001g0139 a0004c0004t0001g0252 a0004c0004t0001g0272 a0004c0004t0001g0293 a0004c0004t0001g0313 a0004c0004t0002g0178 a0004c0004t0003g0076 a0004c0004t0004g0003 a0004c0004t0004g0202 a0004c0004t0004g0217 a0004c0004t0005g0138 a0004c0004t0006g0060 a0004c0004t0007g0098 a0004c0004t0017g0221 a0004c0004t0038g0036 a0004c0004t0049g0160 a0004c0013t0001g0201 a0006c0007t0001g0152 a0006c0007t0001g0162 a0006c0007t0003g0041 a0006c0007t0003g0103 a0006c0007t0003g0113 a0011c0015t0003g0067 a0012c0018t0006g0043 a0013c0016t0023g0343	174	376	0.4628	c.88T others(2): Show c.88T>C	p.Cys others(5): Show p.Cys30Arg	APCDD1L	ENSG00000198768.11	transcript	ENST00000371149.8	protein_coding	2/4	780/3887	88/1506	30/501	chr20	TogoVar
APCDD1_chr18_10449635_10494949	10454998	G G	T T	missense_variant missense_variant	MODERATE	NA18985.hp1 NA18985.hp1	a0004 a0004	a0004c0017 a0004c0017	a0004c0017t0003 a0004c0017t0003	a0004c0017t0003g0276 a0004c0017t0003g0276	1	422	0.0024	c.17G others(2): Show c.17G>T	p.Arg others(4): Show p.Arg6Leu	APCDD1	ENSG00000154856.13	transcript	ENST00000355285.10	protein_coding	1/5	364/3803	17/1545	6/514	chr18	TogoVar
APCDD1_chr18_10449635_10494949	10471735	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00140.hp2 HG00621.hp1 others(48): Show HG00099.hp1 HG00140.hp2 HG00621.hp1 HG00673.hp1 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01109.hp2 HG01257.hp2 HG01358.hp2 HG01952.hp2 HG02080.hp1 HG02148.hp1 HG02155.hp1 HG02293.hp1 HG02523.hp1 HG02683.hp1 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG03239.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG04115.hp1 HG04184.hp2 NA18612.hp2 NA18941.hp1 NA18943.hp1 NA18947.hp1 NA18952.hp1 NA18953.hp1 NA18957.hp2 NA18960.hp1 NA18964.hp1 NA18965.hp2 NA18972.hp2 NA18982.hp2 NA18983.hp2 NA18985.hp1 NA18995.hp2 NA18999.hp2 NA19000.hp2 NA19011.hp1 NA19012.hp1 NA19055.hp1 NA19086.hp2 NA19088.hp1 NA20905.hp1 NA20905.hp2	a0002 a0004 a0002 a0004	a0002c0003 a0002c0005 a0004c0017 a0002c0003 a0002c0005 a0004c0017	a0002c0003t0001 a0002c0003t0003 a0002c0003t0005 others(3): Show a0002c0003t0001 a0002c0003t0003 a0002c0003t0005 a0002c0005t0002 a0002c0005t0004 a0004c0017t0003	a0002c0003t0001g0023 a0002c0003t0001g0037 a0002c0003t0001g0140 others(39): Show a0002c0003t0001g0023 a0002c0003t0001g0037 a0002c0003t0001g0140 a0002c0003t0001g0207 a0002c0003t0001g0309 a0002c0003t0003g0001 a0002c0003t0003g0009 a0002c0003t0003g0020 a0002c0003t0003g0036 a0002c0003t0003g0055 a0002c0003t0003g0056 a0002c0003t0003g0057 a0002c0003t0003g0058 a0002c0003t0003g0060 a0002c0003t0003g0066 a0002c0003t0003g0069 a0002c0003t0003g0174 a0002c0003t0003g0244 a0002c0003t0003g0259 a0002c0003t0003g0282 a0002c0003t0003g0290 a0002c0003t0003g0297 a0002c0003t0003g0301 a0002c0003t0003g0302 a0002c0003t0003g0303 a0002c0003t0003g0305 a0002c0003t0003g0307 a0002c0003t0003g0308 a0002c0003t0003g0311 a0002c0003t0003g0312 a0002c0003t0003g0313 a0002c0003t0003g0314 a0002c0003t0003g0330 a0002c0003t0003g0348 a0002c0003t0005g0315 a0002c0005t0002g0208 a0002c0005t0002g0267 a0002c0005t0002g0299 a0002c0005t0004g0028 a0002c0005t0004g0306 a0002c0005t0004g0310 a0004c0017t0003g0276	51	422	0.1209	c.448 others(3): Show c.448G>A	p.Val others(6): Show p.Val150Ile	APCDD1	ENSG00000154856.13	transcript	ENST00000355285.10	protein_coding	3/5	795/3803	448/1545	150/514	chr18	TogoVar
APCDD1_chr18_10449635_10494949	10471768	G G	A A	missense_variant missense_variant	MODERATE	NA19030.hp2 NA19030.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0006 a0006c0009t0006	a0006c0009t0006g0285 a0006c0009t0006g0285	1	422	0.0024	c.481 others(3): Show c.481G>A	p.Glu others(6): Show p.Glu161Lys	APCDD1	ENSG00000154856.13	transcript	ENST00000355285.10	protein_coding	3/5	828/3803	481/1545	161/514	chr18	TogoVar
APCDD1_chr18_10449635_10494949	10471793	G G	A A	missense_variant missense_variant	MODERATE	HG02273.hp2 HG02273.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0004 a0005c0010t0004	a0005c0010t0004g0038 a0005c0010t0004g0038	1	422	0.0024	c.506 others(3): Show c.506G>A	p.Arg others(6): Show p.Arg169His	APCDD1	ENSG00000154856.13	transcript	ENST00000355285.10	protein_coding	3/5	853/3803	506/1545	169/514	chr18	TogoVar
APCDD1_chr18_10449635_10494949	10485738	G G	A A	missense_variant missense_variant	MODERATE	HG01243.hp1 HG01891.hp1 HG03471.hp1 others(1): Show HG01243.hp1 HG01891.hp1 HG03471.hp1 NA19043.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0012 a0003c0006t0012	a0003c0006t0012g0180 a0003c0006t0012g0264 a0003c0006t0012g0279 others(1): Show a0003c0006t0012g0180 a0003c0006t0012g0264 a0003c0006t0012g0279 a0003c0006t0012g0286	4	422	0.0095	c.105 others(4): Show c.1051G>A	p.Val others(6): Show p.Val351Ile	APCDD1	ENSG00000154856.13	transcript	ENST00000355285.10	protein_coding	4/5	1398/3803	1051/1545	351/514	chr18	TogoVar
APCS_chr1_159582826_159593865	159588703	G G	A A	missense_variant missense_variant	MODERATE	NA20905.hp2 NA20905.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0001 a0002c0005t0001g0001	1	422	0.0024	c.667 others(3): Show c.667G>A	p.Val others(6): Show p.Val223Ile	APCS	ENSG00000132703.4	transcript	ENST00000255040.3	protein_coding	2/2	763/925	667/672	223/223	chr1	TogoVar
APC_chr5_112732885_112851239	112827167	A A	G G	missense_variant missense_variant	MODERATE	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0002 a0005c0013t0002	a0005c0013t0002g0148 a0005c0013t0002g0149 a0005c0013t0002g0148 a0005c0013t0002g0149	2	294	0.0068	c.146 others(4): Show c.1468A>G	p.Asn others(6): Show p.Asn490Asp	APC	ENSG00000134982.18	transcript	ENST00000257430.9	protein_coding	12/16	1527/10704	1468/8532	490/2843	chr5	TogoVar
APC_chr5_112732885_112851239	112838180	C C	G G	missense_variant missense_variant	MODERATE	HG03710.hp2 HG03710.hp2	a0007 a0007	a0007c0032 a0007c0032	a0007c0032t0002 a0007c0032t0002	a0007c0032t0002g0032 a0007c0032t0002g0032	1	294	0.0034	c.258 others(4): Show c.2586C>G	p.Asn others(6): Show p.Asn862Lys	APC	ENSG00000134982.18	transcript	ENST00000257430.9	protein_coding	16/16	2645/10704	2586/8532	862/2843	chr5	TogoVar
APC_chr5_112732885_112851239	112838202	C C	T T	missense_variant missense_variant	MODERATE	HG03453.hp1 NA21309.hp1 HG03453.hp1 NA21309.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0002 a0006c0012t0002	a0006c0012t0002g0096 a0006c0012t0002g0097 a0006c0012t0002g0096 a0006c0012t0002g0097	2	294	0.0068	c.260 others(4): Show c.2608C>T	p.Pro others(6): Show p.Pro870Ser	APC	ENSG00000134982.18	transcript	ENST00000257430.9	protein_coding	16/16	2667/10704	2608/8532	870/2843	chr5	TogoVar
APC_chr5_112732885_112851239	112838542	T T	C C	missense_variant missense_variant	MODERATE	NA19065.hp1 NA19065.hp1	a0014 a0014	a0014c0021 a0014c0021	a0014c0021t0003 a0014c0021t0003	a0014c0021t0003g0166 a0014c0021t0003g0166	1	294	0.0034	c.294 others(4): Show c.2948T>C	p.Ile others(6): Show p.Ile983Thr	APC	ENSG00000134982.18	transcript	ENST00000257430.9	protein_coding	16/16	3007/10704	2948/8532	983/2843	chr5	TogoVar
APC_chr5_112732885_112851239	112839244	A A	C C	missense_variant missense_variant	MODERATE	NA21309.hp2 NA21309.hp2	a0013 a0013	a0013c0024 a0013c0024	a0013c0024t0003 a0013c0024t0003	a0013c0024t0003g0183 a0013c0024t0003g0183	1	294	0.0034	c.365 others(4): Show c.3650A>C	p.Asn others(7): Show p.Asn1217Thr	APC	ENSG00000134982.18	transcript	ENST00000257430.9	protein_coding	16/16	3709/10704	3650/8532	1217/2843	chr5	TogoVar
APC_chr5_112732885_112851239	112839284	G G	C C	missense_variant missense_variant	MODERATE	NA19085.hp1 NA19085.hp1	a0008 a0008	a0008c0022 a0008c0022	a0008c0022t0003 a0008c0022t0003	a0008c0022t0003g0175 a0008c0022t0003g0175	1	294	0.0034	c.369 others(4): Show c.3690G>C	p.Gln others(7): Show p.Gln1230His	APC	ENSG00000134982.18	transcript	ENST00000257430.9	protein_coding	16/16	3749/10704	3690/8532	1230/2843	chr5	TogoVar
APC_chr5_112732885_112851239	112840212	G G	C C	missense_variant missense_variant	MODERATE	NA19240.hp1 NA19240.hp1	a0012 a0012	a0012c0028 a0012c0028	a0012c0028t0002 a0012c0028t0002	a0012c0028t0002g0113 a0012c0028t0002g0113	1	294	0.0034	c.461 others(4): Show c.4618G>C	p.Glu others(7): Show p.Glu1540Gln	APC	ENSG00000134982.18	transcript	ENST00000257430.9	protein_coding	16/16	4677/10704	4618/8532	1540/2843	chr5	TogoVar
APC_chr5_112732885_112851239	112840957	G G	A A	missense_variant missense_variant	MODERATE	NA18980.hp2 NA18980.hp2	a0009 a0009	a0009c0017 a0009c0017	a0009c0017t0001 a0009c0017t0001	a0009c0017t0001g0196 a0009c0017t0001g0196	1	294	0.0034	c.536 others(4): Show c.5363G>A	p.Arg others(7): Show p.Arg1788His	APC	ENSG00000134982.18	transcript	ENST00000257430.9	protein_coding	16/16	5422/10704	5363/8532	1788/2843	chr5	TogoVar
APC_chr5_112732885_112851239	112841059	T T	A A	missense_variant missense_variant	MODERATE	HG00323.hp1 HG00408.hp1 HG00609.hp1 others(248): Show HG00323.hp1 HG00408.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18963.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp2 NA18998.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(9): Show a0001 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0011 a0012 a0013 a0014	a0001c0001 a0001c0002 a0001c0003 others(25): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0008 a0001c0010 a0001c0011 a0001c0014 a0001c0015 a0001c0016 a0001c0019 a0001c0026 a0001c0027 a0001c0029 a0001c0030 a0001c0031 a0003c0006 a0004c0009 a0005c0013 a0006c0012 a0008c0022 a0009c0017 a0010c0018 a0011c0023 a0012c0028 a0013c0024 a0014c0021	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(37): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 a0001c0002t0009 a0001c0002t0013 a0001c0002t0015 a0001c0003t0002 a0001c0003t0006 a0001c0003t0010 a0001c0003t0014 a0001c0005t0005 a0001c0005t0011 a0001c0007t0004 a0001c0008t0002 a0001c0010t0007 a0001c0011t0002 a0001c0014t0007 a0001c0015t0002 a0001c0016t0001 a0001c0019t0002 a0001c0026t0006 a0001c0027t0004 a0001c0029t0002 a0001c0030t0002 a0001c0031t0002 a0003c0006t0001 a0004c0009t0002 a0005c0013t0002 a0006c0012t0002 a0008c0022t0003 a0009c0017t0001 a0010c0018t0001 a0011c0023t0004 a0012c0028t0002 a0013c0024t0003 a0014c0021t0003	a0001c0001t0001g0109 a0001c0001t0001g0122 a0001c0001t0001g0193 others(246): Show a0001c0001t0001g0109 a0001c0001t0001g0122 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0292 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0121 a0001c0001t0004g0123 a0001c0001t0004g0124 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0003g0001 a0001c0002t0003g0002 a0001c0002t0003g0075 a0001c0002t0003g0110 a0001c0002t0003g0153 a0001c0002t0003g0154 a0001c0002t0003g0155 a0001c0002t0003g0156 a0001c0002t0003g0157 a0001c0002t0003g0158 a0001c0002t0003g0159 a0001c0002t0003g0160 a0001c0002t0003g0161 a0001c0002t0003g0162 a0001c0002t0003g0163 a0001c0002t0003g0164 a0001c0002t0003g0165 a0001c0002t0003g0167 a0001c0002t0003g0168 a0001c0002t0003g0169 a0001c0002t0003g0170 a0001c0002t0003g0171 a0001c0002t0003g0172 a0001c0002t0003g0173 a0001c0002t0003g0174 a0001c0002t0003g0176 a0001c0002t0003g0177 a0001c0002t0003g0178 a0001c0002t0003g0179 a0001c0002t0003g0180 a0001c0002t0003g0181 a0001c0002t0003g0182 a0001c0002t0003g0186 a0001c0002t0003g0187 a0001c0002t0003g0215 a0001c0002t0004g0013 a0001c0002t0004g0014 a0001c0002t0004g0015 a0001c0002t0004g0016 a0001c0002t0004g0017 a0001c0002t0004g0018 a0001c0002t0004g0019 a0001c0002t0004g0021 a0001c0002t0004g0022 a0001c0002t0004g0023 a0001c0002t0004g0024 a0001c0002t0004g0025 a0001c0002t0004g0034 a0001c0002t0004g0188 a0001c0002t0004g0189 a0001c0002t0004g0190 a0001c0002t0005g0115 a0001c0002t0005g0126 a0001c0002t0005g0127 a0001c0002t0005g0128 a0001c0002t0008g0184 a0001c0002t0008g0185 a0001c0002t0009g0125 a0001c0002t0009g0131 a0001c0002t0013g0003 a0001c0002t0015g0191 a0001c0003t0002g0004 a0001c0003t0002g0030 a0001c0003t0002g0035 a0001c0003t0002g0036 a0001c0003t0002g0042 a0001c0003t0002g0046 a0001c0003t0002g0047 a0001c0003t0002g0048 a0001c0003t0002g0049 a0001c0003t0002g0050 a0001c0003t0002g0051 a0001c0003t0002g0053 a0001c0003t0002g0054 a0001c0003t0002g0056 a0001c0003t0002g0058 a0001c0003t0002g0059 a0001c0003t0002g0060 a0001c0003t0002g0062 a0001c0003t0002g0066 a0001c0003t0002g0067 a0001c0003t0002g0068 a0001c0003t0002g0079 a0001c0003t0002g0086 a0001c0003t0002g0101 a0001c0003t0002g0103 a0001c0003t0002g0104 a0001c0003t0002g0105 a0001c0003t0002g0135 a0001c0003t0002g0136 a0001c0003t0002g0137 a0001c0003t0002g0138 a0001c0003t0002g0150 a0001c0003t0002g0151 a0001c0003t0002g0192 a0001c0003t0006g0140 a0001c0003t0006g0141 a0001c0003t0006g0142 a0001c0003t0006g0144 a0001c0003t0006g0145 a0001c0003t0006g0146 a0001c0003t0006g0147 a0001c0003t0006g0152 a0001c0003t0010g0139 a0001c0003t0014g0052 a0001c0005t0005g0005 a0001c0005t0005g0006 a0001c0005t0005g0007 a0001c0005t0005g0009 a0001c0005t0005g0010 a0001c0005t0005g0011 a0001c0005t0005g0012 a0001c0005t0011g0008 a0001c0007t0004g0118 a0001c0007t0004g0119 a0001c0007t0004g0120 a0001c0008t0002g0095 a0001c0008t0002g0112 a0001c0008t0002g0130 a0001c0010t0007g0027 a0001c0010t0007g0132 a0001c0011t0002g0055 a0001c0011t0002g0061 a0001c0014t0007g0133 a0001c0015t0002g0134 a0001c0016t0001g0242 a0001c0019t0002g0078 a0001c0026t0006g0143 a0001c0027t0004g0020 a0001c0029t0002g0033 a0001c0030t0002g0129 a0001c0031t0002g0074 a0003c0006t0001g0248 a0003c0006t0001g0261 a0003c0006t0001g0262 a0004c0009t0002g0098 a0004c0009t0002g0099 a0004c0009t0002g0100 a0005c0013t0002g0148 a0005c0013t0002g0149 a0006c0012t0002g0096 a0006c0012t0002g0097 a0008c0022t0003g0175 a0009c0017t0001g0196 a0010c0018t0001g0268 a0011c0023t0004g0026 a0012c0028t0002g0113 a0013c0024t0003g0183 a0014c0021t0003g0166	251	294	0.8537	c.546 others(4): Show c.5465T>A	p.Val others(7): Show p.Val1822Asp	APC	ENSG00000134982.18	transcript	ENST00000257430.9	protein_coding	16/16	5524/10704	5465/8532	1822/2843	chr5	TogoVar
APC_chr5_112732885_112851239	112843098	G G	A A	missense_variant missense_variant	MODERATE	HG01070.hp1 HG02109.hp2 HG03927.hp1 HG01070.hp1 HG02109.hp2 HG03927.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0248 a0003c0006t0001g0261 a0003c0006t0001g0262 a0003c0006t0001g0248 a0003c0006t0001g0261 a0003c0006t0001g0262	3	294	0.0102	c.750 others(4): Show c.7504G>A	p.Gly others(7): Show p.Gly2502Ser	APC	ENSG00000134982.18	transcript	ENST00000257430.9	protein_coding	16/16	7563/10704	7504/8532	2502/2843	chr5	TogoVar
APC_chr5_112732885_112851239	112843219	A A	G G	missense_variant missense_variant	MODERATE	HG03098.hp1 HG03098.hp1	a0011 a0011	a0011c0023 a0011c0023	a0011c0023t0004 a0011c0023t0004	a0011c0023t0004g0026 a0011c0023t0004g0026	1	294	0.0034	c.762 others(4): Show c.7625A>G	p.Asn others(7): Show p.Asn2542Ser	APC	ENSG00000134982.18	transcript	ENST00000257430.9	protein_coding	16/16	7684/10704	7625/8532	2542/2843	chr5	TogoVar
APC_chr5_112732885_112851239	112843240	G G	A A	missense_variant missense_variant	MODERATE	NA18975.hp1 NA18975.hp1	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0001 a0010c0018t0001	a0010c0018t0001g0268 a0010c0018t0001g0268	1	294	0.0034	c.764 others(4): Show c.7646G>A	p.Arg others(7): Show p.Arg2549His	APC	ENSG00000134982.18	transcript	ENST00000257430.9	protein_coding	16/16	7705/10704	7646/8532	2549/2843	chr5	TogoVar
APEH_chr3_49669351_49688971	49674589	A A	G G	missense_variant missense_variant	MODERATE	HG02683.hp2 HG02683.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0005 a0007c0009t0001g0005	1	318	0.0031	c.113 others(3): Show c.113A>G	p.Gln others(5): Show p.Gln38Arg	APEH	ENSG00000164062.13	transcript	ENST00000296456.10	protein_coding	2/22	164/2879	113/2199	38/732	chr3	TogoVar
APEH_chr3_49669351_49688971	49676681	C C	T T	missense_variant missense_variant	MODERATE	HG01993.hp2 HG01993.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0001 a0005c0008t0001g0001	1	318	0.0031	c.817 others(3): Show c.817C>T	p.Arg others(6): Show p.Arg273Cys	APEH	ENSG00000164062.13	transcript	ENST00000296456.10	protein_coding	8/22	868/2879	817/2199	273/732	chr3	TogoVar
APEH_chr3_49669351_49688971	49681198	G G	A A	missense_variant missense_variant	MODERATE	NA18906.hp1 NA21309.hp2 NA18906.hp1 NA21309.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0003 a0003c0005t0001g0020 a0003c0005t0001g0003 a0003c0005t0001g0020	2	318	0.0063	c.139 others(4): Show c.1397G>A	p.Arg others(6): Show p.Arg466Gln	APEH	ENSG00000164062.13	transcript	ENST00000296456.10	protein_coding	15/22	1448/2879	1397/2199	466/732	chr3	TogoVar
APEH_chr3_49669351_49688971	49682366	C C	T T	missense_variant missense_variant	MODERATE	NA18949.hp1 NA18970.hp1 NA18949.hp1 NA18970.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0001 a0004c0006t0001g0038 a0004c0006t0001g0001 a0004c0006t0001g0038	2	318	0.0063	c.162 others(4): Show c.1622C>T	p.Thr others(6): Show p.Thr541Met	APEH	ENSG00000164062.13	transcript	ENST00000296456.10	protein_coding	18/22	1673/2879	1622/2199	541/732	chr3	TogoVar
APEH_chr3_49669351_49688971	49682569	G G	C C	missense_variant missense_variant	MODERATE	NA18952.hp2 NA18990.hp2 NA19055.hp1 others(1): Show NA18952.hp2 NA18990.hp2 NA19055.hp1 NA19091.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0001 a0002c0003t0001g0001	4	318	0.0126	c.171 others(4): Show c.1716G>C	p.Gln others(6): Show p.Gln572His	APEH	ENSG00000164062.13	transcript	ENST00000296456.10	protein_coding	19/22	1767/2879	1716/2199	572/732	chr3	TogoVar
APEH_chr3_49669351_49688971	49683302	T T	C C	missense_variant missense_variant	MODERATE	HG02145.hp1 HG02145.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0002 a0006c0007t0001g0002	1	318	0.0031	c.215 others(4): Show c.2159T>C	p.Met others(6): Show p.Met720Thr	APEH	ENSG00000164062.13	transcript	ENST00000296456.10	protein_coding	22/22	2210/2879	2159/2199	720/732	chr3	TogoVar
APEX1_chr14_20450226_20462767	20455667	G G	A A	missense_variant missense_variant	MODERATE	NA19086.hp2 NA19086.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0001 a0007c0006t0001g0001	1	470	0.0021	c.22G others(2): Show c.22G>A	p.Gly others(4): Show p.Gly8Arg	APEX1	ENSG00000100823.12	transcript	ENST00000216714.8	protein_coding	2/5	259/1453	22/957	8/318	chr14	TogoVar
APEX1_chr14_20450226_20462767	20456008	G G	C C	missense_variant missense_variant	MODERATE	HG01243.hp2 HG01243.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0001 a0006c0007t0001g0001	1	470	0.0021	c.153 others(3): Show c.153G>C	p.Gln others(5): Show p.Gln51His	APEX1	ENSG00000100823.12	transcript	ENST00000216714.8	protein_coding	3/5	390/1453	153/957	51/318	chr14	TogoVar
APEX1_chr14_20450226_20462767	20456045	A A	G G	missense_variant missense_variant	MODERATE	HG00423.hp2 HG01071.hp2 HG02015.hp2 others(12): Show HG00423.hp2 HG01071.hp2 HG02015.hp2 HG02074.hp2 HG02083.hp1 NA18747.hp1 NA18957.hp1 NA18965.hp2 NA18985.hp1 NA18989.hp1 NA18999.hp2 NA19070.hp1 NA19074.hp2 NA19087.hp1 NA20300.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 others(2): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0004c0004t0001 a0004c0004t0002	a0003c0003t0001g0001 a0003c0003t0002g0001 a0003c0003t0003g0001 others(2): Show a0003c0003t0001g0001 a0003c0003t0002g0001 a0003c0003t0003g0001 a0004c0004t0001g0001 a0004c0004t0002g0001	15	470	0.0319	c.190 others(3): Show c.190A>G	p.Ile others(5): Show p.Ile64Val	APEX1	ENSG00000100823.12	transcript	ENST00000216714.8	protein_coding	3/5	427/1453	190/957	64/318	chr14	TogoVar
APEX1_chr14_20450226_20462767	20456995	T T	G G	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(157): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01934.hp2 HG01943.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02293.hp1 HG02300.hp1 HG02559.hp2 HG02622.hp2 HG02735.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03453.hp1 HG03471.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03831.hp2 HG03834.hp1 HG04184.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18971.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18989.hp2 NA18995.hp2 NA18997.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19056.hp2 NA19060.hp1 NA19062.hp1 NA19065.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19076.hp1 NA19080.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19088.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0009 a0003c0003 a0002c0002 a0002c0009 a0003c0003	a0002c0002t0001 a0002c0002t0006 a0002c0009t0001 others(3): Show a0002c0002t0001 a0002c0002t0006 a0002c0009t0001 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003	a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 others(9): Show a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0006g0002 a0002c0009t0001g0003 a0003c0003t0001g0001 a0003c0003t0002g0001 a0003c0003t0003g0001	160	470	0.3404	c.444 others(3): Show c.444T>G	p.Asp others(6): Show p.Asp148Glu	APEX1	ENSG00000100823.12	transcript	ENST00000216714.8	protein_coding	5/5	681/1453	444/957	148/318	chr14	TogoVar
APEX1_chr14_20450226_20462767	20457272	G G	A A	missense_variant missense_variant	MODERATE	HG02486.hp2 HG02647.hp1 HG06807.hp2 HG02486.hp2 HG02647.hp1 HG06807.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0001 a0005c0005t0001g0001	3	470	0.0064	c.721 others(3): Show c.721G>A	p.Gly others(6): Show p.Gly241Arg	APEX1	ENSG00000100823.12	transcript	ENST00000216714.8	protein_coding	5/5	958/1453	721/957	241/318	chr14	TogoVar
APEX2_chrX_54995363_55014057	55002430	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18967.hp1 NA18967.hp1	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0001 a0003c0016t0001	a0003c0016t0001g0001 a0003c0016t0001g0001	1	303	0.0033	c.421 others(3): Show c.421C>T	p.Arg others(6): Show p.Arg141Cys	APEX2	ENSG00000169188.5	transcript	ENST00000374987.4	protein_coding	3/6	481/3239	421/1557	141/518	chrX	TogoVar
APEX2_chrX_54995363_55014057	55006683	C C	T T	missense_variant missense_variant	MODERATE	HG04228.hp1 HG04228.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0002 a0009c0013t0002	a0009c0013t0002g0021 a0009c0013t0002g0021	1	303	0.0033	c.805 others(3): Show c.805C>T	p.His others(6): Show p.His269Tyr	APEX2	ENSG00000169188.5	transcript	ENST00000374987.4	protein_coding	6/6	865/3239	805/1557	269/518	chrX	TogoVar
APEX2_chrX_54995363_55014057	55006857	C C	T T	missense_variant missense_variant	MODERATE	HG01106.hp1 HG01106.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0001	a0005c0012t0001g0019 a0005c0012t0001g0019	1	303	0.0033	c.979 others(3): Show c.979C>T	p.Arg others(6): Show p.Arg327Cys	APEX2	ENSG00000169188.5	transcript	ENST00000374987.4	protein_coding	6/6	1039/3239	979/1557	327/518	chrX	TogoVar
APEX2_chrX_54995363_55014057	55006900	G G	A A	missense_variant missense_variant	MODERATE	HG02602.hp1 HG02735.hp1 HG03688.hp1 HG02602.hp1 HG02735.hp1 HG03688.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0001 a0002c0004t0001g0001	3	303	0.0099	c.102 others(4): Show c.1022G>A	p.Arg others(6): Show p.Arg341His	APEX2	ENSG00000169188.5	transcript	ENST00000374987.4	protein_coding	6/6	1082/3239	1022/1557	341/518	chrX	TogoVar
APEX2_chrX_54995363_55014057	55007188	A A	T T	missense_variant missense_variant	MODERATE	HG00733.hp2 HG00733.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0025 a0008c0011t0001g0025	1	303	0.0033	c.131 others(4): Show c.1310A>T	p.Lys others(6): Show p.Lys437Met	APEX2	ENSG00000169188.5	transcript	ENST00000374987.4	protein_coding	6/6	1370/3239	1310/1557	437/518	chrX	TogoVar
APEX2_chrX_54995363_55014057	55007349	C C	T T	missense_variant missense_variant	MODERATE	HG02647.hp1 HG02647.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0003 a0006c0010t0003	a0006c0010t0003g0007 a0006c0010t0003g0007	1	303	0.0033	c.147 others(4): Show c.1471C>T	p.Arg others(6): Show p.Arg491Cys	APEX2	ENSG00000169188.5	transcript	ENST00000374987.4	protein_coding	6/6	1531/3239	1471/1557	491/518	chrX	TogoVar
APEX2_chrX_54995363_55014057	55007426	G G	T T	missense_variant missense_variant	MODERATE	HG00408.hp1 HG00408.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0001 a0007c0009t0001g0001	1	303	0.0033	c.154 others(4): Show c.1548G>T	p.Arg others(6): Show p.Arg516Ser	APEX2	ENSG00000169188.5	transcript	ENST00000374987.4	protein_coding	6/6	1608/3239	1548/1557	516/518	chrX	TogoVar
APH1A_chr1_150260404_150274016	150266193	G G	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03098.hp1 HG03225.hp1 NA21309.hp1 HG03098.hp1 HG03225.hp1 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0007 a0002c0003t0001g0007	3	440	0.0068	c.735 others(3): Show c.735C>G	p.Cys others(6): Show p.Cys245Trp	APH1A	ENSG00000117362.13	transcript	ENST00000369109.8	protein_coding	7/7	941/1730	735/798	245/265	chr1	TogoVar
APH1B_chr15_63272605_63314126	63277702	A A	G G	missense_variant missense_variant	MODERATE	HG03704.hp1 HG03710.hp1 HG03942.hp2 others(3): Show HG03704.hp1 HG03710.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0145 a0004c0004t0001g0146 a0004c0004t0001g0196 others(3): Show a0004c0004t0001g0145 a0004c0004t0001g0146 a0004c0004t0001g0196 a0004c0004t0001g0197 a0004c0004t0001g0198 a0004c0004t0001g0199	6	422	0.0142	c.79A others(2): Show c.79A>G	p.Thr others(5): Show p.Thr27Ala	APH1B	ENSG00000138613.14	transcript	ENST00000261879.10	protein_coding	1/6	98/4138	79/774	27/257	chr15	TogoVar
APH1B_chr15_63272605_63314126	63277703	C C	T T	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00639.hp1 HG01099.hp1 others(6): Show HG00140.hp2 HG00639.hp1 HG01099.hp1 HG01167.hp2 HG01256.hp1 HG01515.hp1 HG01517.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0003 a0005 a0003 a0005	a0003c0003 a0005c0006 a0003c0003 a0005c0006	a0003c0003t0002 a0003c0003t0003 a0003c0003t0024 others(1): Show a0003c0003t0002 a0003c0003t0003 a0003c0003t0024 a0005c0006t0017	a0003c0003t0002g0051 a0003c0003t0003g0024 a0003c0003t0003g0213 others(3): Show a0003c0003t0002g0051 a0003c0003t0003g0024 a0003c0003t0003g0213 a0003c0003t0024g0147 a0005c0006t0017g0211 a0005c0006t0017g0212	9	422	0.0213	c.80C others(2): Show c.80C>T	p.Thr others(5): Show p.Thr27Ile	APH1B	ENSG00000138613.14	transcript	ENST00000261879.10	protein_coding	1/6	99/4138	80/774	27/257	chr15	TogoVar
APH1B_chr15_63272605_63314126	63279300	A A	T T	missense_variant missense_variant	MODERATE	NA18974.hp2 NA18974.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0003 a0006c0010t0003	a0006c0010t0003g0241 a0006c0010t0003g0241	1	422	0.0024	c.253 others(3): Show c.253A>T	p.Met others(5): Show p.Met85Leu	APH1B	ENSG00000138613.14	transcript	ENST00000261879.10	protein_coding	2/6	272/4138	253/774	85/257	chr15	TogoVar
APH1B_chr15_63272605_63314126	63302461	G G	T T	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0003 a0007c0009t0003	a0007c0009t0003g0177 a0007c0009t0003g0177	1	422	0.0024	c.595 others(3): Show c.595G>T	p.Val others(6): Show p.Val199Leu	APH1B	ENSG00000138613.14	transcript	ENST00000261879.10	protein_coding	5/6	614/4138	595/774	199/257	chr15	TogoVar
APH1B_chr15_63272605_63314126	63305658	T T	G G	missense_variant missense_variant	MODERATE	HG00558.hp1 HG00558.hp2 HG00609.hp1 others(62): Show HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00673.hp1 HG00735.hp2 HG01123.hp1 HG01257.hp2 HG01361.hp1 HG01496.hp1 HG01515.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG02004.hp1 HG02080.hp2 HG02273.hp1 HG02300.hp2 HG02486.hp2 HG02922.hp2 HG03540.hp1 HG03688.hp1 NA18522.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18949.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18965.hp1 NA18967.hp1 NA18969.hp1 NA18972.hp2 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18984.hp1 NA18985.hp1 NA18987.hp1 NA18988.hp1 NA18990.hp2 NA18991.hp1 NA18993.hp1 NA18995.hp1 NA18997.hp2 NA18999.hp1 NA19001.hp2 NA19004.hp1 NA19006.hp2 NA19009.hp2 NA19063.hp1 NA19067.hp1 NA19068.hp1 NA19076.hp1 NA19077.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19084.hp1 NA19087.hp2 NA20752.hp1 NA20752.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0006 a0002c0002 a0005c0006	a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 others(4): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0013 a0002c0002t0014 a0002c0002t0025 a0005c0006t0017	a0002c0002t0002g0132 a0002c0002t0003g0183 a0002c0002t0004g0001 others(26): Show a0002c0002t0002g0132 a0002c0002t0003g0183 a0002c0002t0004g0001 a0002c0002t0004g0010 a0002c0002t0004g0019 a0002c0002t0004g0021 a0002c0002t0004g0033 a0002c0002t0004g0038 a0002c0002t0004g0040 a0002c0002t0004g0041 a0002c0002t0004g0062 a0002c0002t0004g0085 a0002c0002t0004g0105 a0002c0002t0004g0128 a0002c0002t0004g0129 a0002c0002t0004g0130 a0002c0002t0004g0131 a0002c0002t0004g0133 a0002c0002t0004g0135 a0002c0002t0004g0142 a0002c0002t0004g0143 a0002c0002t0004g0174 a0002c0002t0004g0191 a0002c0002t0004g0201 a0002c0002t0013g0001 a0002c0002t0014g0050 a0002c0002t0025g0137 a0005c0006t0017g0211 a0005c0006t0017g0212	65	422	0.1540	c.651 others(3): Show c.651T>G	p.Phe others(6): Show p.Phe217Leu	APH1B	ENSG00000138613.14	transcript	ENST00000261879.10	protein_coding	6/6	670/4138	651/774	217/257	chr15	TogoVar
APH1B_chr15_63272605_63314126	63305714	G G	A A	missense_variant missense_variant	MODERATE	NA19090.hp1 NA19090.hp1	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0003 a0008c0007t0003	a0008c0007t0003g0046 a0008c0007t0003g0046	1	422	0.0024	c.707 others(3): Show c.707G>A	p.Arg others(6): Show p.Arg236Gln	APH1B	ENSG00000138613.14	transcript	ENST00000261879.10	protein_coding	6/6	726/4138	707/774	236/257	chr15	TogoVar
API5_chr11_43306996_43349529	43322071	A A	C C	missense_variant missense_variant	MODERATE	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0008 a0002c0003t0001g0008	1	384	0.0026	c.478 others(3): Show c.478A>C	p.Lys others(6): Show p.Lys160Gln	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding	5/14	610/3726	478/1575	160/524	chr11	TogoVar
APIP_chr11_34877295_34921379	34883425	T T	C C	missense_variant missense_variant	MODERATE	HG01884.hp1 HG02572.hp1 HG02723.hp1 others(3): Show HG01884.hp1 HG02572.hp1 HG02723.hp1 HG02895.hp2 HG02970.hp1 NA19030.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0044 a0005c0005t0002g0177 a0005c0005t0002g0178 others(2): Show a0005c0005t0002g0044 a0005c0005t0002g0177 a0005c0005t0002g0178 a0005c0005t0002g0179 a0005c0005t0002g0220	6	355	0.0169	c.541 others(3): Show c.541A>G	p.Met others(6): Show p.Met181Val	APIP	ENSG00000149089.13	transcript	ENST00000395787.4	protein_coding	6/7	636/1246	541/729	181/242	chr11	TogoVar
APIP_chr11_34877295_34921379	34888817	G G	A A	missense_variant missense_variant	MODERATE	HG03017.hp1 HG03017.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0128 a0006c0008t0001g0128	1	355	0.0028	c.260 others(3): Show c.260C>T	p.Ser others(5): Show p.Ser87Leu	APIP	ENSG00000149089.13	transcript	ENST00000395787.4	protein_coding	4/7	355/1246	260/729	87/242	chr11	TogoVar

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