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
ALOX15B_chr17_8034059_8054134	8050306	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(81): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00423.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01081.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01261.hp1 HG01433.hp2 HG01515.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02129.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02280.hp2 HG02300.hp2 HG02559.hp1 HG02572.hp2 HG02698.hp2 HG02970.hp1 HG03017.hp2 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03704.hp1 HG03834.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 NA18747.hp1 NA18948.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp2 NA18964.hp2 NA18966.hp1 NA18970.hp1 NA18973.hp1 NA18975.hp2 NA18982.hp1 NA18994.hp1 NA18995.hp2 NA19000.hp1 NA19004.hp1 NA19006.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19060.hp1 NA19065.hp2 NA19074.hp2 NA19075.hp2 NA19078.hp1 NA19081.hp2 NA19087.hp2 NA19088.hp1 NA20752.hp1 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0010 a0001c0014 others(7): Show a0001c0001 a0001c0010 a0001c0014 a0001c0021 a0001c0023 a0001c0031 a0001c0033 a0001c0036 a0001c0044 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0010t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0010t0004 a0001c0014t0001 a0001c0021t0001 a0001c0023t0001 a0001c0023t0002 a0001c0031t0001 a0001c0033t0001 a0001c0036t0001 a0001c0044t0001 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(57): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0067 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0170 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0202 a0001c0001t0001g0207 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0234 a0001c0001t0002g0006 a0001c0001t0002g0012 a0001c0001t0002g0146 a0001c0001t0002g0158 a0001c0001t0002g0188 a0001c0010t0004g0235 a0001c0014t0001g0083 a0001c0014t0001g0084 a0001c0021t0001g0001 a0001c0021t0001g0006 a0001c0021t0001g0055 a0001c0023t0001g0201 a0001c0023t0002g0038 a0001c0031t0001g0246 a0001c0033t0001g0182 a0001c0036t0001g0038 a0001c0044t0001g0124 a0003c0004t0001g0189	84	470	0.1787	12	c.17 others(23): Show c.1741_*1742insAAAAAAAAAAAA	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding		1173		chr17	TogoVar
ALOX15_chr17_4625919_4646678	4631050	A A	AGGCCCCG others(5): Show AGGCCCCGTCTCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0138 a0001c0001t0008g0138	1	472	0.0021	12	c.53 others(21): Show c.538_*549dupGGAGACGGGGCC	ALOX15	ENSG00000161905.13	transcript	ENST00000293761.8	protein_coding	14/14	549		chr17	TogoVar
ALOX5_chr10_45369216_45451117	45374099	T T	TGCGGGGG others(5): Show TGCGGGGGCGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03225.hp1 HG03579.hp2 others(1): Show HG03195.hp2 HG03225.hp1 HG03579.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0157 a0001c0001t0001g0198 a0001c0004t0001g0037 others(1): Show a0001c0001t0001g0157 a0001c0001t0001g0198 a0001c0004t0001g0037 a0001c0004t0001g0038	4	345	0.0116	12	c.-18 others(21): Show c.-181_-180insGCGGGGGCGGGG	ALOX5	ENSG00000012779.12	transcript	ENST00000374391.7	protein_coding		116		chr10	TogoVar
ALOX5_chr10_45369216_45451117	45384833	C C	CTATTATT others(5): Show CTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp1 HG01123.hp1 others(12): Show HG00099.hp1 HG00642.hp1 HG01123.hp1 HG01175.hp2 HG01243.hp1 HG01516.hp2 HG01517.hp2 HG02004.hp1 HG03453.hp1 HG03471.hp2 HG03710.hp1 HG03927.hp1 HG04115.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 others(11): Show a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0002t0002g0027 a0001c0002t0002g0292 a0001c0002t0002g0294 a0001c0002t0002g0295 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0298 a0001c0002t0002g0309 a0001c0002t0002g0310 a0001c0002t0002g0311	15	345	0.0435	12	c.349 others(29): Show c.349+2166_349+2177dupATTATTATTATT	ALOX5	ENSG00000012779.12	transcript	ENST00000374391.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
ALOX5_chr10_45369216_45451117	45391077	G G	GTCTCCCT others(5): Show GTCTCCCTCTCCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(205): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00642.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01975.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18985.hp2 NA18988.hp2 NA18994.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp2 NA19058.hp2 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0001c0019 a0001c0020 a0001c0021 a0002c0005 a0003c0010 a0004c0012 a0006c0013 a0007c0017 a0008c0018	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(20): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0004t0001 a0001c0006t0001 a0001c0006t0009 a0001c0007t0001 a0001c0008t0002 a0001c0011t0002 a0001c0019t0001 a0001c0020t0001 a0001c0021t0006 a0002c0005t0003 a0003c0010t0001 a0004c0012t0001 a0006c0013t0001 a0007c0017t0001 a0008c0018t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0012 others(184): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0066 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0157 a0001c0001t0001g0162 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0004g0203 a0001c0001t0008g0255 a0001c0002t0002g0027 a0001c0002t0002g0292 a0001c0002t0002g0293 a0001c0002t0002g0294 a0001c0002t0002g0295 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0298 a0001c0002t0002g0309 a0001c0002t0002g0310 a0001c0002t0002g0311 a0001c0003t0001g0006 a0001c0003t0001g0016 a0001c0003t0001g0017 a0001c0003t0001g0018 a0001c0003t0001g0032 a0001c0003t0001g0033 a0001c0003t0001g0055 a0001c0003t0001g0056 a0001c0003t0001g0058 a0001c0003t0001g0141 a0001c0003t0001g0143 a0001c0003t0001g0145 a0001c0003t0001g0146 a0001c0003t0001g0147 a0001c0003t0001g0148 a0001c0003t0001g0149 a0001c0003t0001g0151 a0001c0003t0001g0152 a0001c0003t0001g0154 a0001c0003t0001g0155 a0001c0003t0001g0163 a0001c0003t0001g0174 a0001c0003t0002g0256 a0001c0003t0003g0150 a0001c0003t0004g0047 a0001c0003t0004g0048 a0001c0003t0004g0050 a0001c0003t0004g0051 a0001c0003t0004g0052 a0001c0003t0004g0053 a0001c0003t0004g0054 a0001c0003t0004g0057 a0001c0004t0001g0002 a0001c0004t0001g0014 a0001c0004t0001g0020 a0001c0004t0001g0129 a0001c0004t0001g0168 a0001c0004t0001g0175 a0001c0004t0001g0176 a0001c0004t0001g0177 a0001c0004t0001g0202 a0001c0004t0001g0204 a0001c0006t0001g0005 a0001c0006t0001g0034 a0001c0006t0001g0049 a0001c0006t0001g0142 a0001c0006t0001g0144 a0001c0006t0009g0153 a0001c0007t0001g0015 a0001c0007t0001g0124 a0001c0007t0001g0127 a0001c0007t0001g0130 a0001c0007t0001g0131 a0001c0008t0002g0312 a0001c0011t0002g0257 a0001c0011t0002g0258 a0001c0019t0001g0213 a0001c0020t0001g0221 a0001c0021t0006g0291 a0002c0005t0003g0036 a0002c0005t0003g0113 a0002c0005t0003g0116 a0002c0005t0003g0120 a0002c0005t0003g0121 a0002c0005t0003g0122 a0002c0005t0003g0123 a0002c0005t0003g0135 a0002c0005t0003g0156 a0002c0005t0003g0241 a0003c0010t0001g0245 a0003c0010t0001g0246 a0004c0012t0001g0219 a0006c0013t0001g0253 a0007c0017t0001g0226 a0008c0018t0001g0023	208	345	0.6029	12	c.350 others(29): Show c.350-4771_350-4760dupTCTCCCTCTCCC	ALOX5	ENSG00000012779.12	transcript	ENST00000374391.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
ALOX5_chr10_45369216_45451117	45391081	C C	CCCTCTCC others(5): Show CCCTCTCCCTCTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01243.hp2 HG03098.hp1 others(3): Show HG01192.hp1 HG01243.hp2 HG03098.hp1 HG03195.hp2 HG03225.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0005 a0001c0001 a0001c0004 a0002c0005	a0001c0001t0001 a0001c0004t0001 a0002c0005t0003 a0001c0001t0001 a0001c0004t0001 a0002c0005t0003	a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0004t0001g0037 others(3): Show a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0004t0001g0037 a0001c0004t0001g0038 a0002c0005t0003g0039 a0002c0005t0003g0040	6	345	0.0174	12	c.350 others(29): Show c.350-4763_350-4762insTCCTCTCCCTCT	ALOX5	ENSG00000012779.12	transcript	ENST00000374391.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
ALOX5_chr10_45369216_45451117	45409527	C C	CTCTCTCT others(5): Show CTCTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0140 a0001c0009t0001g0140	1	345	0.0029	12	c.432 others(29): Show c.432-2657_432-2656insCTCTGTCTCTCT	ALOX5	ENSG00000012779.12	transcript	ENST00000374391.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
ALOXE3_chr17_8090900_8123514	8092328	T T	TTTTGTTT others(5): Show TTTTGTTTGTTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02258.hp1 HG02630.hp2 others(2): Show HG01884.hp1 HG02258.hp1 HG02630.hp2 HG03098.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0006 a0002c0003t0002 a0001c0001t0002 a0001c0001t0006 a0002c0003t0002	a0001c0001t0002g0151 a0001c0001t0002g0251 a0001c0001t0006g0377 others(2): Show a0001c0001t0002g0151 a0001c0001t0002g0251 a0001c0001t0006g0377 a0001c0001t0006g0394 a0002c0003t0002g0157	5	422	0.0119	12	c.42 others(23): Show c.4298_*4299insCAAACAAACAAA	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding		3571		chr17	TogoVar
ALOXE3_chr17_8090900_8123514	8093870	T T	TAATAAAT others(5): Show TAATAAATAAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0310 a0001c0001t0002g0310	1	422	0.0024	12	c.27 others(23): Show c.2756_*2757insTATTTATTTATT	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding		2029		chr17	TogoVar
ALOXE3_chr17_8090900_8123514	8104245	T T	TGGATGGA others(5): Show TGGATGGAAGGTA	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0112	1	422	0.0024	12	c.168 others(27): Show c.1685-42_1685-31dupTACCTTCCATCC	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15			chr17	TogoVar
ALOXE3_chr17_8090900_8123514	8107998	G G	GGAAAGAA others(5): Show GGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01257.hp2 HG02071.hp2 others(7): Show HG00738.hp2 HG01257.hp2 HG02071.hp2 HG02080.hp2 HG02145.hp2 NA18945.hp2 NA18947.hp1 NA18980.hp2 NA18984.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001	a0001c0001t0002g0319 a0001c0001t0004g0406 a0001c0002t0001g0038 others(7): Show a0001c0001t0002g0319 a0001c0001t0004g0406 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0042 a0001c0002t0001g0069 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0240 a0001c0002t0001g0355	10	422	0.0237	12	c.168 others(29): Show c.1684+458_1684+469dupTTTCTTTCTTTC	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15			chr17	TogoVar
ALOXE3_chr17_8090900_8123514	8108056	A A	AAAGAAAG others(5): Show AAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0139 a0001c0002t0001g0139	1	422	0.0024	12	c.168 others(29): Show c.1684+400_1684+411dupCCTTTCTTTCTT	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15			chr17	TogoVar
ALPK1_chr4_112292369_112447621	112302736	G G	GCAAACAA others(5): Show GCAAACAAACAAA	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	306	0.0033	12	c.-15 others(31): Show c.-153+5277_-153+5288dupAAACAAACAAAC	ALPK1	ENSG00000073331.18	transcript	ENST00000650871.1	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
ALPK1_chr4_112292369_112447621	112440812	A A	AGTGTGTG others(5): Show AGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03195.hp1 HG01109.hp2 HG03195.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0017 a0001c0001 a0007c0017	a0001c0001t0001 a0007c0017t0001 a0001c0001t0001 a0007c0017t0001	a0001c0001t0001g0086 a0007c0017t0001g0127 a0001c0001t0001g0086 a0007c0017t0001g0127	2	306	0.0065	12	c.353 others(27): Show c.3539-84_3539-73dupGTGTGTGTGTGT	ALPK1	ENSG00000073331.18	transcript	ENST00000650871.1	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
ALPK2_chr18_58476247_58634091	58478629	T T	TATATACA others(5): Show TATATACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0008 a0009c0008t0008	a0009c0008t0008g0251 a0009c0008t0008g0251	1	320	0.0031	12	c.31 others(23): Show c.3193_*3194insGTGTGTGTATAT	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding		2617		chr18	TogoVar
ALPK2_chr18_58476247_58634091	58478629	T T	TATATATA others(5): Show TATATATACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02148.hp2 HG03453.hp1 others(6): Show HG02145.hp1 HG02148.hp2 HG03453.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03834.hp2 NA18979.hp1 NA21309.hp1	a0005 a0006 a0007 others(4): Show a0005 a0006 a0007 a0011 a0021 a0032 a0060	a0005c0005 a0006c0039 a0007c0059 others(4): Show a0005c0005 a0006c0039 a0007c0059 a0011c0020 a0021c0033 a0032c0078 a0060c0086	a0005c0005t0015 a0006c0039t0008 a0007c0059t0015 others(4): Show a0005c0005t0015 a0006c0039t0008 a0007c0059t0015 a0011c0020t0008 a0021c0033t0008 a0032c0078t0008 a0060c0086t0008	a0005c0005t0015g0020 a0006c0039t0008g0120 a0006c0039t0008g0283 others(6): Show a0005c0005t0015g0020 a0006c0039t0008g0120 a0006c0039t0008g0283 a0007c0059t0015g0027 a0011c0020t0008g0143 a0021c0033t0008g0160 a0021c0033t0008g0287 a0032c0078t0008g0284 a0060c0086t0008g0225	9	320	0.0281	12	c.31 others(23): Show c.3193_*3194insGTGTGTATATAT	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding		2617		chr18	TogoVar
ALPK2_chr18_58476247_58634091	58478629	T T	TATATATA others(5): Show TATATATATACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0024 a0024	a0024c0025 a0024c0025	a0024c0025t0014 a0024c0025t0014	a0024c0025t0014g0111 a0024c0025t0014g0111	1	320	0.0031	12	c.31 others(23): Show c.3193_*3194insGTGTATATATAT	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding		2617		chr18	TogoVar
ALPK2_chr18_58476247_58634091	58479060	G G	GTGTATAT others(5): Show GTGTATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0021 a0021	a0021c0033 a0021c0033	a0021c0033t0008 a0021c0033t0008	a0021c0033t0008g0287 a0021c0033t0008g0287	1	320	0.0031	12	c.27 others(23): Show c.2762_*2763insTATATATATACA	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding		2186		chr18	TogoVar
ALPK2_chr18_58476247_58634091	58479068	A A	ATATATAT others(5): Show ATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG02148.hp2 HG02572.hp1 others(13): Show HG01981.hp1 HG02148.hp2 HG02572.hp1 HG02630.hp2 HG02723.hp1 HG02886.hp2 HG03195.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03834.hp2 NA18979.hp1 NA21309.hp1	a0005 a0006 a0007 others(9): Show a0005 a0006 a0007 a0008 a0009 a0011 a0021 a0024 a0026 a0032 a0034 a0060	a0005c0005 a0006c0039 a0007c0007 others(10): Show a0005c0005 a0006c0039 a0007c0007 a0007c0059 a0008c0035 a0009c0008 a0011c0020 a0021c0033 a0024c0025 a0026c0043 a0032c0078 a0034c0037 a0060c0086	a0005c0005t0015 a0006c0039t0008 a0007c0007t0008 others(10): Show a0005c0005t0015 a0006c0039t0008 a0007c0007t0008 a0007c0059t0015 a0008c0035t0008 a0009c0008t0008 a0011c0020t0008 a0021c0033t0008 a0024c0025t0014 a0026c0043t0008 a0032c0078t0008 a0034c0037t0014 a0060c0086t0008	a0005c0005t0015g0020 a0006c0039t0008g0120 a0006c0039t0008g0283 others(13): Show a0005c0005t0015g0020 a0006c0039t0008g0120 a0006c0039t0008g0283 a0007c0007t0008g0243 a0007c0059t0015g0027 a0008c0035t0008g0149 a0009c0008t0008g0251 a0011c0020t0008g0143 a0021c0033t0008g0160 a0024c0025t0014g0109 a0024c0025t0014g0111 a0026c0043t0008g0159 a0032c0078t0008g0284 a0034c0037t0014g0106 a0034c0037t0014g0108 a0060c0086t0008g0225	16	320	0.0500	12	c.27 others(23): Show c.2754_*2755insCATATATATATA	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding		2178		chr18	TogoVar
ALPK2_chr18_58476247_58634091	58483529	C C	CTTTATTT others(5): Show CTTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01884.hp2 HG01943.hp2 others(12): Show HG00438.hp2 HG01884.hp2 HG01943.hp2 HG01975.hp2 HG01993.hp2 HG02615.hp1 HG03098.hp1 HG03654.hp2 HG06807.hp2 NA18906.hp1 NA18948.hp2 NA19007.hp2 NA19060.hp2 NA19065.hp2 NA20129.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0006 a0007 a0011 a0014 a0018 a0024 a0032 a0054	a0001c0001 a0001c0016 a0002c0002 others(10): Show a0001c0001 a0001c0016 a0002c0002 a0003c0003 a0004c0004 a0006c0034 a0007c0007 a0011c0021 a0014c0011 a0018c0028 a0024c0025 a0032c0076 a0054c0072	a0001c0001t0001 a0001c0016t0001 a0002c0002t0002 others(12): Show a0001c0001t0001 a0001c0016t0001 a0002c0002t0002 a0002c0002t0007 a0003c0003t0001 a0003c0003t0002 a0004c0004t0001 a0006c0034t0004 a0007c0007t0011 a0011c0021t0006 a0014c0011t0007 a0018c0028t0019 a0024c0025t0010 a0032c0076t0010 a0054c0072t0003	a0001c0001t0001g0173 a0001c0016t0001g0212 a0002c0002t0002g0031 others(12): Show a0001c0001t0001g0173 a0001c0016t0001g0212 a0002c0002t0002g0031 a0002c0002t0007g0075 a0003c0003t0001g0218 a0003c0003t0002g0065 a0004c0004t0001g0207 a0006c0034t0004g0247 a0007c0007t0011g0112 a0011c0021t0006g0066 a0014c0011t0007g0082 a0018c0028t0019g0050 a0024c0025t0010g0110 a0032c0076t0010g0114 a0054c0072t0003g0161	15	320	0.0469	12	c.629 others(31): Show c.6297-1502_6297-1491dupTAAATAAATAAA	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	12/12			chr18	TogoVar
ALPK2_chr18_58476247_58634091	58484752	T T	TATAATAA others(5): Show TATAATAATAATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(74): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00544.hp1 HG00558.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01943.hp1 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02145.hp2 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp2 HG03453.hp2 HG03579.hp2 HG03710.hp1 HG03927.hp1 HG04228.hp2 NA18522.hp1 NA18906.hp2 NA18941.hp2 NA18944.hp1 NA18951.hp2 NA18960.hp2 NA18966.hp2 NA18991.hp2 NA18998.hp2 NA19002.hp2 NA19003.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19068.hp2 NA19076.hp2 NA19077.hp1 NA19080.hp1 NA19085.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20905.hp2	a0001 a0002 a0003 others(23): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0011 a0012 a0013 a0014 a0017 a0018 a0023 a0024 a0025 a0030 a0032 a0035 a0044 a0049 a0050 a0052 a0054 a0056	a0001c0001 a0001c0006 a0001c0016 others(34): Show a0001c0001 a0001c0006 a0001c0016 a0002c0002 a0002c0014 a0003c0003 a0004c0004 a0004c0056 a0006c0015 a0006c0024 a0007c0007 a0008c0027 a0008c0035 a0008c0041 a0009c0008 a0011c0020 a0011c0021 a0012c0023 a0012c0083 a0012c0092 a0012c0093 a0013c0009 a0014c0011 a0017c0017 a0018c0028 a0023c0026 a0024c0025 a0025c0029 a0030c0030 a0032c0076 a0035c0036 a0044c0060 a0049c0051 a0050c0050 a0052c0075 a0054c0072 a0056c0091	a0001c0001t0003 a0001c0001t0006 a0001c0006t0003 others(47): Show a0001c0001t0003 a0001c0001t0006 a0001c0006t0003 a0001c0016t0006 a0002c0002t0003 a0002c0014t0001 a0002c0014t0020 a0003c0003t0003 a0004c0004t0003 a0004c0004t0006 a0004c0004t0018 a0004c0004t0021 a0004c0056t0006 a0006c0015t0003 a0006c0024t0001 a0007c0007t0010 a0008c0027t0010 a0008c0035t0006 a0008c0041t0001 a0008c0041t0003 a0009c0008t0003 a0011c0020t0003 a0011c0021t0001 a0011c0021t0006 a0012c0023t0001 a0012c0023t0010 a0012c0023t0013 a0012c0083t0010 a0012c0092t0003 a0012c0093t0001 a0013c0009t0003 a0013c0009t0006 a0014c0011t0003 a0017c0017t0010 a0017c0017t0023 a0018c0028t0006 a0018c0028t0019 a0023c0026t0003 a0024c0025t0010 a0025c0029t0003 a0030c0030t0006 a0032c0076t0010 a0035c0036t0003 a0035c0036t0013 a0044c0060t0003 a0049c0051t0001 a0050c0050t0006 a0052c0075t0002 a0054c0072t0003 a0056c0091t0003	a0001c0001t0003g0191 a0001c0001t0003g0198 a0001c0001t0003g0203 others(74): Show a0001c0001t0003g0191 a0001c0001t0003g0198 a0001c0001t0003g0203 a0001c0001t0003g0223 a0001c0001t0006g0029 a0001c0001t0006g0032 a0001c0001t0006g0070 a0001c0006t0003g0214 a0001c0016t0006g0052 a0002c0002t0003g0129 a0002c0002t0003g0130 a0002c0002t0003g0148 a0002c0002t0003g0180 a0002c0002t0003g0181 a0002c0002t0003g0182 a0002c0002t0003g0301 a0002c0002t0003g0318 a0002c0014t0001g0249 a0002c0014t0020g0089 a0003c0003t0003g0230 a0003c0003t0003g0255 a0003c0003t0003g0267 a0003c0003t0003g0305 a0004c0004t0003g0125 a0004c0004t0003g0184 a0004c0004t0003g0226 a0004c0004t0003g0227 a0004c0004t0003g0253 a0004c0004t0003g0310 a0004c0004t0003g0311 a0004c0004t0006g0033 a0004c0004t0006g0037 a0004c0004t0018g0025 a0004c0004t0021g0117 a0004c0056t0006g0088 a0006c0015t0003g0170 a0006c0024t0001g0271 a0007c0007t0010g0099 a0007c0007t0010g0100 a0008c0027t0010g0104 a0008c0035t0006g0058 a0008c0041t0001g0136 a0008c0041t0003g0135 a0009c0008t0003g0118 a0009c0008t0003g0314 a0011c0020t0003g0254 a0011c0021t0001g0274 a0011c0021t0001g0275 a0011c0021t0006g0066 a0012c0023t0001g0137 a0012c0023t0010g0097 a0012c0023t0013g0092 a0012c0083t0010g0103 a0012c0092t0003g0320 a0012c0093t0001g0140 a0013c0009t0003g0306 a0013c0009t0006g0006 a0013c0009t0006g0008 a0013c0009t0006g0016 a0014c0011t0003g0259 a0017c0017t0010g0105 a0017c0017t0023g0139 a0018c0028t0006g0049 a0018c0028t0019g0050 a0023c0026t0003g0123 a0024c0025t0010g0110 a0025c0029t0003g0119 a0030c0030t0006g0081 a0032c0076t0010g0114 a0035c0036t0003g0319 a0035c0036t0013g0107 a0044c0060t0003g0205 a0049c0051t0001g0157 a0050c0050t0006g0080 a0052c0075t0002g0046 a0054c0072t0003g0161 a0056c0091t0003g0131	77	320	0.2406	12	c.629 others(31): Show c.6297-2725_6297-2714dupTATTATTATTAT	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	12/12			chr18	TogoVar
ALPK2_chr18_58476247_58634091	58492146	G G	GACACACA others(5): Show GACACACACACAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02630.hp2 NA20129.hp2 HG02615.hp1 HG02630.hp2 NA20129.hp2	a0011 a0024 a0054 a0011 a0024 a0054	a0011c0021 a0024c0025 a0054c0072 a0011c0021 a0024c0025 a0054c0072	a0011c0021t0006 a0024c0025t0014 a0054c0072t0003 a0011c0021t0006 a0024c0025t0014 a0054c0072t0003	a0011c0021t0006g0066 a0024c0025t0014g0109 a0054c0072t0003g0161 a0011c0021t0006g0066 a0024c0025t0014g0109 a0054c0072t0003g0161	3	320	0.0094	12	c.629 others(31): Show c.6296+5891_6296+5902dupGTGTGTGTGTGT	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	12/12			chr18	TogoVar
ALPK2_chr18_58476247_58634091	58521625	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01934.hp1 HG02055.hp2 others(6): Show HG01099.hp2 HG01934.hp1 HG02055.hp2 HG02145.hp2 HG02280.hp2 HG02615.hp2 HG02818.hp1 HG03453.hp1 NA20805.hp2	a0004 a0011 a0013 others(4): Show a0004 a0011 a0013 a0015 a0016 a0061 a0063	a0004c0004 a0011c0020 a0013c0009 others(4): Show a0004c0004 a0011c0020 a0013c0009 a0015c0013 a0016c0018 a0061c0084 a0063c0081	a0004c0004t0003 a0011c0020t0003 a0011c0020t0008 others(5): Show a0004c0004t0003 a0011c0020t0003 a0011c0020t0008 a0013c0009t0003 a0015c0013t0009 a0016c0018t0005 a0061c0084t0004 a0063c0081t0005	a0004c0004t0003g0253 a0011c0020t0003g0254 a0011c0020t0008g0143 others(6): Show a0004c0004t0003g0253 a0011c0020t0003g0254 a0011c0020t0008g0143 a0013c0009t0003g0306 a0015c0013t0009g0007 a0016c0018t0005g0144 a0016c0018t0005g0158 a0061c0084t0004g0199 a0063c0081t0005g0269	9	320	0.0281	12	c.566 others(31): Show c.5665+2180_5665+2181insAAAAAAAAAAAA	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	8/12			chr18	TogoVar
ALPK2_chr18_58476247_58634091	58521627	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0020 a0020	a0020c0019 a0020c0019	a0020c0019t0005 a0020c0019t0005	a0020c0019t0005g0141 a0020c0019t0005g0141	1	320	0.0031	12	c.566 others(31): Show c.5665+2167_5665+2178dupAAAAAAAAAAAA	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	8/12			chr18	TogoVar
ALPK2_chr18_58476247_58634091	58556169	T T	TCACACAC others(5): Show TCACACACACACA	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA19043.hp2 HG02572.hp2 NA19043.hp2	a0041 a0052 a0041 a0052	a0041c0065 a0052c0075 a0041c0065 a0052c0075	a0041c0065t0011 a0052c0075t0002 a0041c0065t0011 a0052c0075t0002	a0041c0065t0011g0095 a0052c0075t0002g0046 a0041c0065t0011g0095 a0052c0075t0002g0046	2	320	0.0063	12	c.196 others(33): Show c.1963-17957_1963-17946dupTGTGTGTGTGTG	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	4/12			chr18	TogoVar
ALPK2_chr18_58476247_58634091	58564123	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00423.hp2 others(81): Show HG00099.hp2 HG00323.hp1 HG00423.hp2 HG00639.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02080.hp1 HG02148.hp2 HG02165.hp1 HG02602.hp2 HG02615.hp2 HG02683.hp2 HG02723.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG03017.hp1 HG03041.hp1 HG03130.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18948.hp2 NA18960.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18971.hp2 NA18972.hp1 NA18983.hp2 NA18986.hp2 NA18990.hp1 NA18991.hp2 NA18994.hp1 NA18998.hp1 NA19003.hp2 NA19012.hp1 NA19030.hp1 NA19056.hp1 NA19058.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19076.hp2 NA19077.hp2 NA19085.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20805.hp1 NA20905.hp1	a0001 a0002 a0003 others(18): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0014 a0016 a0017 a0020 a0032 a0033 a0042 a0044 a0045 a0046 a0049 a0061	a0001c0001 a0002c0002 a0003c0003 others(21): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0004c0056 a0006c0039 a0007c0007 a0007c0059 a0008c0027 a0009c0008 a0010c0010 a0014c0011 a0016c0018 a0017c0017 a0017c0052 a0020c0019 a0032c0078 a0033c0038 a0042c0063 a0044c0060 a0045c0062 a0046c0061 a0049c0051 a0061c0084	a0001c0001t0001 a0001c0001t0003 a0002c0002t0003 others(41): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0003 a0002c0002t0004 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 a0003c0003t0005 a0004c0004t0001 a0004c0004t0002 a0004c0004t0003 a0004c0004t0004 a0004c0004t0006 a0004c0004t0018 a0004c0056t0006 a0006c0039t0008 a0007c0007t0001 a0007c0007t0008 a0007c0007t0011 a0007c0059t0015 a0008c0027t0010 a0009c0008t0001 a0009c0008t0002 a0009c0008t0003 a0010c0010t0001 a0010c0010t0004 a0014c0011t0007 a0016c0018t0005 a0016c0018t0012 a0017c0017t0010 a0017c0017t0012 a0017c0052t0013 a0020c0019t0002 a0020c0019t0005 a0020c0019t0022 a0032c0078t0008 a0033c0038t0004 a0042c0063t0007 a0044c0060t0003 a0045c0062t0001 a0046c0061t0025 a0049c0051t0001 a0061c0084t0004	a0001c0001t0001g0155 a0001c0001t0001g0245 a0001c0001t0003g0198 others(81): Show a0001c0001t0001g0155 a0001c0001t0001g0245 a0001c0001t0003g0198 a0002c0002t0003g0181 a0002c0002t0003g0182 a0002c0002t0004g0280 a0003c0003t0001g0193 a0003c0003t0001g0210 a0003c0003t0001g0211 a0003c0003t0001g0218 a0003c0003t0001g0264 a0003c0003t0001g0265 a0003c0003t0001g0268 a0003c0003t0001g0276 a0003c0003t0001g0294 a0003c0003t0001g0317 a0003c0003t0002g0059 a0003c0003t0002g0060 a0003c0003t0002g0087 a0003c0003t0003g0230 a0003c0003t0003g0255 a0003c0003t0003g0305 a0003c0003t0004g0202 a0003c0003t0004g0262 a0003c0003t0004g0270 a0003c0003t0004g0313 a0003c0003t0005g0183 a0004c0004t0001g0154 a0004c0004t0001g0207 a0004c0004t0001g0216 a0004c0004t0001g0235 a0004c0004t0001g0302 a0004c0004t0002g0034 a0004c0004t0002g0035 a0004c0004t0002g0067 a0004c0004t0002g0068 a0004c0004t0002g0079 a0004c0004t0003g0125 a0004c0004t0003g0184 a0004c0004t0003g0310 a0004c0004t0004g0165 a0004c0004t0004g0208 a0004c0004t0004g0209 a0004c0004t0004g0257 a0004c0004t0006g0037 a0004c0004t0018g0025 a0004c0056t0006g0088 a0006c0039t0008g0283 a0007c0007t0001g0285 a0007c0007t0008g0243 a0007c0007t0011g0112 a0007c0059t0015g0027 a0008c0027t0010g0104 a0009c0008t0001g0258 a0009c0008t0002g0026 a0009c0008t0002g0054 a0009c0008t0003g0118 a0009c0008t0003g0314 a0010c0010t0001g0186 a0010c0010t0001g0293 a0010c0010t0001g0312 a0010c0010t0004g0298 a0014c0011t0007g0082 a0014c0011t0007g0083 a0014c0011t0007g0084 a0014c0011t0007g0085 a0016c0018t0005g0144 a0016c0018t0005g0158 a0016c0018t0012g0098 a0017c0017t0010g0105 a0017c0017t0012g0096 a0017c0052t0013g0115 a0020c0019t0002g0051 a0020c0019t0005g0141 a0020c0019t0022g0233 a0032c0078t0008g0284 a0033c0038t0004g0281 a0033c0038t0004g0282 a0042c0063t0007g0069 a0044c0060t0003g0205 a0045c0062t0001g0222 a0046c0061t0025g0151 a0049c0051t0001g0157 a0061c0084t0004g0199	84	320	0.2625	12	c.196 others(33): Show c.1962+14679_1962+14690dupAAAAAAAAAAAA	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	4/12			chr18	TogoVar
ALPK2_chr18_58476247_58634091	58578731	G G	GACACACA others(5): Show GACACACACACAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0030 a0030	a0030c0030 a0030c0030	a0030c0030t0006 a0030c0030t0006	a0030c0030t0006g0081 a0030c0030t0006g0081	1	320	0.0031	12	c.196 others(27): Show c.1962+82_1962+83insGTGTGTGTGTGT	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	4/12			chr18	TogoVar
ALPK2_chr18_58476247_58634091	58578733	G G	GACACACA others(5): Show GACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00639.hp1 HG00741.hp2 others(33): Show HG00408.hp2 HG00639.hp1 HG00741.hp2 HG01109.hp2 HG01168.hp1 HG01169.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG02109.hp2 HG02148.hp2 HG02630.hp1 HG02683.hp2 HG03704.hp1 HG04115.hp2 NA18941.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18948.hp2 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18983.hp2 NA18994.hp1 NA18998.hp1 NA19058.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19076.hp1 NA19076.hp2 NA19077.hp2	a0003 a0004 a0007 others(6): Show a0003 a0004 a0007 a0009 a0014 a0029 a0044 a0046 a0051	a0003c0003 a0004c0004 a0004c0056 others(8): Show a0003c0003 a0004c0004 a0004c0056 a0007c0007 a0007c0059 a0009c0008 a0014c0011 a0029c0031 a0044c0060 a0046c0061 a0051c0049	a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 others(14): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 a0004c0004t0001 a0004c0004t0002 a0004c0004t0004 a0004c0056t0006 a0007c0007t0011 a0007c0059t0015 a0009c0008t0002 a0014c0011t0003 a0014c0011t0007 a0029c0031t0004 a0044c0060t0003 a0046c0061t0025 a0051c0049t0004	a0003c0003t0001g0194 a0003c0003t0001g0210 a0003c0003t0001g0211 others(33): Show a0003c0003t0001g0194 a0003c0003t0001g0210 a0003c0003t0001g0211 a0003c0003t0001g0218 a0003c0003t0001g0264 a0003c0003t0001g0265 a0003c0003t0001g0295 a0003c0003t0002g0028 a0003c0003t0002g0041 a0003c0003t0002g0065 a0003c0003t0002g0086 a0003c0003t0002g0087 a0003c0003t0003g0305 a0003c0003t0004g0262 a0003c0003t0004g0270 a0003c0003t0004g0296 a0004c0004t0001g0207 a0004c0004t0001g0235 a0004c0004t0002g0034 a0004c0004t0002g0067 a0004c0004t0002g0068 a0004c0004t0004g0165 a0004c0004t0004g0208 a0004c0004t0004g0209 a0004c0056t0006g0088 a0007c0007t0011g0113 a0007c0059t0015g0027 a0009c0008t0002g0026 a0014c0011t0003g0259 a0014c0011t0007g0083 a0014c0011t0007g0084 a0014c0011t0007g0085 a0029c0031t0004g0278 a0044c0060t0003g0205 a0046c0061t0025g0151 a0051c0049t0004g0248	36	320	0.1125	12	c.196 others(27): Show c.1962+69_1962+80dupGTGTGTGTGTGT	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	4/12			chr18	TogoVar
ALPK2_chr18_58476247_58634091	58629561	T T	TCACACAC others(5): Show TCACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02896.hp1 HG02809.hp1 HG02896.hp1	a0008 a0017 a0008 a0017	a0008c0027 a0017c0017 a0008c0027 a0017c0017	a0008c0027t0010 a0017c0017t0010 a0008c0027t0010 a0017c0017t0010	a0008c0027t0010g0104 a0017c0017t0010g0105 a0008c0027t0010g0104 a0017c0017t0010g0105	2	320	0.0063	12	c.-81 others(21): Show c.-819_-818insTGTGTGTGTGTG	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding		471		chr18	TogoVar
ALPK2_chr18_58476247_58634091	58629563	T T	TCTCACAC others(5): Show TCTCACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0001 a0009c0008t0001	a0009c0008t0001g0258 a0009c0008t0001g0258	1	320	0.0031	12	c.-82 others(21): Show c.-821_-820insTGTGTGTGTGAG	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding		473		chr18	TogoVar
ALPK2_chr18_58476247_58634091	58629563	T T	TCTCTCAC others(5): Show TCTCTCACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 NA18971.hp2 NA18972.hp1 others(1): Show HG00558.hp2 NA18971.hp2 NA18972.hp1 NA19074.hp2	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0001 a0001c0016 a0003c0003 others(1): Show a0001c0001 a0001c0016 a0003c0003 a0010c0010	a0001c0001t0001 a0001c0016t0001 a0003c0003t0004 others(1): Show a0001c0001t0001 a0001c0016t0001 a0003c0003t0004 a0010c0010t0001	a0001c0001t0001g0266 a0001c0016t0001g0303 a0003c0003t0004g0313 others(1): Show a0001c0001t0001g0266 a0001c0016t0001g0303 a0003c0003t0004g0313 a0010c0010t0001g0312	4	320	0.0125	12	c.-82 others(21): Show c.-821_-820insTGTGTGTGAGAG	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding		473		chr18	TogoVar
ALPK3_chr15_84812356_84878479	84833957	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00621.hp1 others(38): Show HG00423.hp2 HG00438.hp1 HG00621.hp1 HG00673.hp1 HG01346.hp1 HG02074.hp1 HG02451.hp2 HG02976.hp1 HG03041.hp1 HG03195.hp2 NA18747.hp2 NA18942.hp1 NA18950.hp1 NA18959.hp2 NA18962.hp2 NA18967.hp1 NA18970.hp2 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18985.hp2 NA18992.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19009.hp1 NA19057.hp1 NA19058.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19090.hp2	a0001 a0002 a0013 a0001 a0002 a0013	a0001c0001 a0001c0002 a0002c0006 others(2): Show a0001c0001 a0001c0002 a0002c0006 a0002c0008 a0013c0023	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0002t0002 a0002c0006t0006 a0002c0008t0002 a0013c0023t0005	a0001c0001t0001g0017 a0001c0001t0001g0125 a0001c0001t0001g0205 others(32): Show a0001c0001t0001g0017 a0001c0001t0001g0125 a0001c0001t0001g0205 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0005g0221 a0001c0001t0005g0238 a0001c0001t0006g0112 a0001c0001t0007g0218 a0001c0001t0007g0220 a0001c0002t0002g0006 a0001c0002t0002g0010 a0001c0002t0002g0026 a0001c0002t0002g0082 a0001c0002t0002g0201 a0001c0002t0002g0208 a0001c0002t0002g0209 a0001c0002t0002g0222 a0001c0002t0002g0226 a0001c0002t0002g0237 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0248 a0002c0006t0006g0090 a0002c0006t0006g0091 a0002c0006t0006g0113 a0002c0006t0006g0114 a0002c0006t0006g0203 a0002c0008t0002g0006 a0002c0008t0002g0219 a0013c0023t0005g0195	41	340	0.1206	12	c.305 others(29): Show c.305-5003_305-4992dupGTGTGTGTGTGT	ALPK3	ENSG00000136383.7	transcript	ENST00000258888.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr15	TogoVar
ALPK3_chr15_84812356_84878479	84847208	G G	GGAGAGAG others(5): Show GGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0171 a0001c0001t0005g0171	1	340	0.0029	12	c.165 others(31): Show c.1653+6306_1653+6317dupAGAGAGAGAGAG	ALPK3	ENSG00000136383.7	transcript	ENST00000258888.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr15	TogoVar
ALPK3_chr15_84812356_84878479	84850879	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02083.hp1 HG02965.hp1 others(5): Show HG00673.hp2 HG02083.hp1 HG02965.hp1 NA18949.hp2 NA18954.hp2 NA18966.hp2 NA18999.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0026 a0001c0001t0005 a0001c0001t0026	a0001c0001t0005g0108 a0001c0001t0005g0127 a0001c0001t0005g0171 others(5): Show a0001c0001t0005g0108 a0001c0001t0005g0127 a0001c0001t0005g0171 a0001c0001t0005g0172 a0001c0001t0005g0174 a0001c0001t0005g0179 a0001c0001t0005g0238 a0001c0001t0026g0150	8	340	0.0235	12	c.165 others(31): Show c.1654-5488_1654-5477dupACACACACACAC	ALPK3	ENSG00000136383.7	transcript	ENST00000258888.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr15	TogoVar
ALPK3_chr15_84812356_84878479	84850879	T T	TATACACA others(5): Show TATACACACACAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0073 a0001c0004t0006g0073	1	340	0.0029	12	c.165 others(31): Show c.1654-5512_1654-5511insTACACACACACA	ALPK3	ENSG00000136383.7	transcript	ENST00000258888.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr15	TogoVar
ALPK3_chr15_84812356_84878479	84850879	T T	TATATACA others(5): Show TATATACACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01071.hp1 HG01361.hp1 others(4): Show HG00639.hp2 HG01071.hp1 HG01361.hp1 HG01952.hp1 NA18612.hp1 NA18962.hp1 NA18979.hp1	a0003 a0004 a0006 others(2): Show a0003 a0004 a0006 a0008 a0025	a0003c0005 a0004c0007 a0006c0009 others(2): Show a0003c0005 a0004c0007 a0006c0009 a0008c0014 a0025c0036	a0003c0005t0003 a0004c0007t0024 a0006c0009t0005 others(2): Show a0003c0005t0003 a0004c0007t0024 a0006c0009t0005 a0008c0014t0022 a0025c0036t0003	a0003c0005t0003g0013 a0003c0005t0003g0058 a0004c0007t0024g0062 others(3): Show a0003c0005t0003g0013 a0003c0005t0003g0058 a0004c0007t0024g0062 a0006c0009t0005g0055 a0008c0014t0022g0141 a0025c0036t0003g0159	7	340	0.0206	12	c.165 others(31): Show c.1654-5512_1654-5511insTATACACACACA	ALPK3	ENSG00000136383.7	transcript	ENST00000258888.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr15	TogoVar
ALPK3_chr15_84812356_84878479	84877873	A A	AGATAGAT others(5): Show AGATAGATAGATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0015 a0001c0001t0008g0015	1	340	0.0029	12	c.94 others(23): Show c.9417_*9418insGATAGATAGATG	ALPK3	ENSG00000136383.7	transcript	ENST00000258888.6	protein_coding		4395		chr15	TogoVar
ALPL_chr1_21504423_21583410	21551719	G G	GTTTTTTT others(5): Show GTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01175.hp1 HG01346.hp1 HG00733.hp1 HG01175.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0222 a0001c0001t0004g0070 a0001c0001t0004g0089 a0001c0001t0002g0222 a0001c0001t0004g0070 a0001c0001t0004g0089	3	370	0.0081	12	c.-10 others(31): Show c.-104-2244_-104-2233dupTTTTTTTTTTTT	ALPL	ENSG00000162551.14	transcript	ENST00000374840.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ALPL_chr1_21504423_21583410	21554799	G G	GTCTTTCT others(5): Show GTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0204 a0001c0001t0002g0204	1	370	0.0027	12	c.61+ others(25): Show c.61+660_61+661insTTCTTTCTTTCT	ALPL	ENSG00000162551.14	transcript	ENST00000374840.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ALPL_chr1_21504423_21583410	21576218	T T	TGATGGAT others(5): Show TGATGGATGGATG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01981.hp2 HG02257.hp1 others(8): Show HG01261.hp2 HG01981.hp2 HG02257.hp1 HG03704.hp2 NA18961.hp1 NA18970.hp2 NA18972.hp1 NA18975.hp1 NA18982.hp1 NA19077.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0038 a0001c0001t0004g0093 a0001c0001t0004g0103 others(8): Show a0001c0001t0004g0038 a0001c0001t0004g0093 a0001c0001t0004g0103 a0001c0001t0004g0130 a0001c0001t0004g0138 a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0292 a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0004g0296	11	370	0.0297	12	c.119 others(29): Show c.1190-279_1190-268dupGATGGATGGATG	ALPL	ENSG00000162551.14	transcript	ENST00000374840.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ALPP_chr2_232373751_232387889	232385077	G G	GGAAGAAG others(5): Show GGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01167.hp1 HG01169.hp1 others(8): Show HG01081.hp1 HG01167.hp1 HG01169.hp1 HG01433.hp2 HG02293.hp1 HG02523.hp2 HG02895.hp1 HG03491.hp2 NA18950.hp1 NA18994.hp2 NA19005.hp1	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0002c0002 a0002c0005 others(1): Show a0001c0001 a0002c0002 a0002c0005 a0012c0013	a0001c0001t0001 a0002c0002t0001 a0002c0005t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0005t0001 a0012c0013t0007	a0001c0001t0001g0001 a0002c0002t0001g0004 a0002c0005t0001g0005 others(2): Show a0001c0001t0001g0001 a0002c0002t0001g0004 a0002c0005t0001g0005 a0002c0005t0001g0009 a0012c0013t0007g0022	11	410	0.0268	12	c.32 others(23): Show c.3282_*3283insGAAGAAGAAGAA	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2189		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(5): Show AAGAAGAAGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 NA18973.hp2 HG00642.hp2 NA18973.hp2	a0002 a0002	a0002c0002 a0002c0006 a0002c0002 a0002c0006	a0002c0002t0001 a0002c0006t0001 a0002c0002t0001 a0002c0006t0001	a0002c0002t0001g0004 a0002c0006t0001g0001 a0002c0002t0001g0004 a0002c0006t0001g0001	2	410	0.0049	12	c.33 others(23): Show c.3320_*3321insAGAAGAAGAAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(5): Show AAGAAGAAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG03471.hp1 NA19240.hp2 HG02622.hp2 HG03471.hp1 NA19240.hp2	a0002 a0004 a0002 a0004	a0002c0018 a0004c0004 a0002c0018 a0004c0004	a0002c0018t0001 a0004c0004t0001 a0002c0018t0001 a0004c0004t0001	a0002c0018t0001g0001 a0004c0004t0001g0002 a0002c0018t0001g0001 a0004c0004t0001g0002	3	410	0.0073	12	c.33 others(23): Show c.3320_*3321insAGAAGAAGGAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGGA others(5): Show AAGAAGGAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0002 a0004c0004t0001g0002	1	410	0.0024	12	c.33 others(23): Show c.3320_*3321insAGAAGGAGGAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
ALS2_chr2_201695267_201785933	201706535	T T	TTATATAT others(5): Show TTATATATATATA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02258.hp1 HG02486.hp2 others(5): Show HG02165.hp2 HG02258.hp1 HG02486.hp2 HG02723.hp1 HG03195.hp1 HG03927.hp2 NA18940.hp2 NA19072.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0003c0007t0001 a0001c0001t0001 a0003c0007t0001	a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0001t0001g0248 others(5): Show a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0285 a0001c0001t0001g0295 a0003c0007t0001g0034 a0003c0007t0001g0037 a0003c0007t0001g0079	8	354	0.0226	12	c.458 others(29): Show c.4580+299_4580+310dupTATATATATATA	ALS2	ENSG00000003393.16	transcript	ENST00000264276.11	protein_coding	29/33			chr2	TogoVar
ALS2_chr2_201695267_201785933	201719590	A A	AAAAAATA others(5): Show AAAAAATAAAAAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0042 a0001c0003t0001g0042	1	354	0.0028	12	c.370 others(31): Show c.3703-1392_3703-1381dupATTTTTATTTTT	ALS2	ENSG00000003393.16	transcript	ENST00000264276.11	protein_coding	23/33			chr2	TogoVar
ALS2_chr2_201695267_201785933	201758760	A A	ATGTGTGT others(5): Show ATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA19043.hp2 HG02717.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0263 a0001c0001t0001g0264	2	354	0.0057	12	c.111 others(31): Show c.1114-1013_1114-1002dupCACACACACACA	ALS2	ENSG00000003393.16	transcript	ENST00000264276.11	protein_coding	4/33			chr2	TogoVar
ALS2_chr2_201695267_201785933	201764634	A A	AAAATAAA others(5): Show AAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0081 a0001c0011t0001g0081	1	354	0.0028	12	c.175 others(29): Show c.175+2583_175+2594dupATTTATTTATTT	ALS2	ENSG00000003393.16	transcript	ENST00000264276.11	protein_coding	3/33			chr2	TogoVar
ALX1_chr12_85275220_85306784	85283309	A A	AAAAAAAT others(5): Show AAAAAAATTTAAG	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	384	0.0026	12	c.227 others(27): Show c.227-263_227-262insAAAAAATTTAAG	ALX1	ENSG00000180318.4	transcript	ENST00000316824.4	protein_coding	1/3			chr12	TogoVar
ALX4_chr11_44255440_44315139	44293099	A A	AGAAGGAA others(5): Show AGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18939.hp2 NA18954.hp2 HG02040.hp2 NA18939.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0004 a0001c0005t0006 a0001c0005t0061 a0001c0001t0004 a0001c0005t0006 a0001c0005t0061	a0001c0001t0004g0194 a0001c0005t0006g0212 a0001c0005t0061g0215 a0001c0001t0004g0194 a0001c0005t0006g0212 a0001c0005t0061g0215	3	388	0.0077	12	c.466 others(31): Show c.466+16486_466+16497dupCTTCCTTCCTTC	ALX4	ENSG00000052850.8	transcript	ENST00000652299.1	protein_coding	1/3			chr11	TogoVar

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