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
EIF2B3_chr1_44845522_44991595	44951950	GCTAATTT others(305): Show GCTAATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TTGCCCAGGCTGGAGTGCAGTGGCGGGAACTCGGCTCACTGCAAGCTCCG CCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp1 HG00735.hp1 others(74): Show HG00140.hp1 HG00544.hp1 HG00735.hp1 HG01069.hp2 HG01081.hp2 HG01243.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01516.hp1 HG01517.hp1 HG01891.hp2 HG01943.hp1 HG01993.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02145.hp2 HG02148.hp1 HG02273.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02922.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03225.hp1 HG03225.hp2 HG03540.hp2 HG03688.hp1 HG03710.hp1 HG06807.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18950.hp2 NA18954.hp1 NA18956.hp1 NA18957.hp1 NA18962.hp2 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18977.hp1 NA18983.hp1 NA18985.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp2 NA18992.hp2 NA18994.hp2 NA18998.hp1 NA19000.hp2 NA19001.hp2 NA19004.hp2 NA19005.hp2 NA19010.hp1 NA19011.hp2 NA19030.hp1 NA19063.hp1 NA19067.hp2 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 others(74): Show a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0003c0005t0001g0314	77	322	0.2391	-312	c.295 others(19): Show c.295-10597_295-10286del	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
ERICH1_chr8_659200_736224	695857	GCTCGCTC others(305): Show GCTCGCTCCTCTCACCCTCCACTCCTCTCCTTCCTCCCCATCAGCCTGCA CTCGCTCCTCTCACCCTCCACTCCTCTCCTTCCTCCCCATCAGCCTGCAC TCGCTCCTCTCACCCTCCACTCCTCTCCTTCCTCCCCATCAGCCTGCGCC TGTGCTGGCTCCTCTCACCCTCCACTCCTCTCCTTCCTCCCCATCAACCT GCGCCTGTGCTGGCTCCTCTCACCCTCCCTTCCTCTCCCTCCTCCCCATC AGCCTGCACCTGTGCTGGCTCCTCTCACCCTCCACTCCTCTCCTTCCTCC CCATCAGCCTGCA	G G	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18970.hp1 NA18983.hp1 NA18962.hp2 NA18970.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0168 a0001c0001t0001g0200 a0001c0001t0001g0201	3	378	0.0079	-312	c.170 others(17): Show c.170-3557_170-3246del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
FOXN3_chr14_89151177_89422233	89362301	CACCACCA others(305): Show CACCACCACCTCCAGCACCACCTCTACCACCACCACCTCCAGCACCACCA CCACCTCCTCCTCCTCCTCCACCACCACCTCCACCACCACCACCTCCAGC ACCACCACCACCTCCTCCTCCTCCACCACCACCACCACCACCTCCAGCAC CAGCTCCACCACCTCCTCCTCCACCACCACCACCACCACCACCACCATCT CCACCACCACCACCACCATCTCTACGACCACCACCACCACCATCTCCACC ACCACCTCCACCACCACCACCACCACCATCTCTACGACCACCACCACCAC CACCATCTCTACG	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01975.hp2 HG02273.hp1 others(2): Show HG01081.hp2 HG01975.hp2 HG02273.hp1 HG02683.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0001t0019 a0001c0001t0040 others(2): Show a0001c0001t0004 a0001c0001t0019 a0001c0001t0040 a0001c0001t0093 a0001c0003t0083	a0001c0001t0004g0127 a0001c0001t0019g0004 a0001c0001t0040g0184 others(2): Show a0001c0001t0004g0127 a0001c0001t0019g0004 a0001c0001t0040g0184 a0001c0001t0093g0115 a0001c0003t0083g0215	5	230	0.0217	-312	c.544 others(19): Show c.544-11805_544-11494del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
GAL3ST2_chr2_241771822_241809287	241807100	CTCCCTCC others(305): Show CTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAG GCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCC TCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCC GGGAAGAGCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02572.hp2 HG02056.hp2 HG02572.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0001 a0001c0001t0002 a0003c0003t0001	a0001c0001t0002g0066 a0003c0003t0001g0249 a0001c0001t0002g0066 a0003c0003t0001g0249	2	314	0.0064	-312	c.29 others(11): Show c.2935_*3246del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2814		chr2	TogoVar
GGCT_chr7_30491621_30509829	30495984	TTTTTTTT others(305): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTC CGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0033 a0001c0001t0003g0033	1	444	0.0023	-312	c.79 others(10): Show c.796_*1107del	GGCT	ENSG00000006625.18	transcript	ENST00000275428.9	protein_coding		636		chr7	TogoVar
GNAL_chr18_11684264_11890685	11880054	CAAGACCA others(305): Show CAAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACA AAAAGTAGCCAGGCGTGGTGGCGCACGCCTGTAATCCCAGCTACTCAGGA GGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAG CCGAGATGGCACCACTGCACTCCAGCCTGGGGGACACAGCGAGACTCCAT CTCAAACAAACAAAAAAACAAACAAGCTAATTAGGTGGGGCACAGTGGCT CATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACTTG AGGTCAGGAGTTT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02004.hp2 HG02083.hp1 others(8): Show HG01074.hp2 HG02004.hp2 HG02083.hp1 HG02165.hp2 HG02257.hp1 HG03834.hp2 NA18947.hp1 NA18962.hp2 NA18971.hp1 NA18974.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 others(5): Show a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0128 a0001c0001t0129 a0001c0001t0130 a0001c0001t0131 a0001c0001t0132	a0001c0001t0023g0104 a0001c0001t0023g0203 a0001c0001t0024g0192 others(8): Show a0001c0001t0023g0104 a0001c0001t0023g0203 a0001c0001t0024g0192 a0001c0001t0024g0218 a0001c0001t0025g0162 a0001c0001t0025g0217 a0001c0001t0128g0179 a0001c0001t0129g0226 a0001c0001t0130g0185 a0001c0001t0131g0156 a0001c0001t0132g0229	11	248	0.0444	-312	c.123 others(17): Show c.1231-934_1231-623del	GNAL	ENSG00000141404.17	transcript	ENST00000334049.11	protein_coding	11/11			chr18	TogoVar
GNAL_chr18_11747085_11890685	11880054	CAAGACCA others(305): Show CAAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACA AAAAGTAGCCAGGCGTGGTGGCGCACGCCTGTAATCCCAGCTACTCAGGA GGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAG CCGAGATGGCACCACTGCACTCCAGCCTGGGGGACACAGCGAGACTCCAT CTCAAACAAACAAAAAAACAAACAAGCTAATTAGGTGGGGCACAGTGGCT CATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACTTG AGGTCAGGAGTTT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01074.hp1 HG02004.hp1 others(15): Show HG00609.hp2 HG01074.hp1 HG02004.hp1 HG02056.hp2 HG02165.hp2 HG02257.hp2 HG03834.hp2 NA18947.hp2 NA18961.hp2 NA18962.hp1 NA18971.hp1 NA18974.hp1 NA18978.hp1 NA18979.hp2 NA18988.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0017 a0001c0001t0038 others(8): Show a0001c0001t0016 a0001c0001t0017 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0078 a0001c0001t0123 a0001c0001t0124 a0001c0001t0125 a0001c0001t0126 a0001c0001t0127	a0001c0001t0016g0001 a0001c0001t0016g0011 a0001c0001t0016g0164 others(15): Show a0001c0001t0016g0001 a0001c0001t0016g0011 a0001c0001t0016g0164 a0001c0001t0017g0086 a0001c0001t0017g0087 a0001c0001t0017g0101 a0001c0001t0038g0024 a0001c0001t0038g0172 a0001c0001t0039g0124 a0001c0001t0039g0128 a0001c0001t0040g0158 a0001c0001t0040g0171 a0001c0001t0078g0039 a0001c0001t0123g0156 a0001c0001t0124g0182 a0001c0001t0125g0116 a0001c0001t0126g0243 a0001c0001t0127g0035	18	284	0.0634	-312	c.100 others(17): Show c.1000-934_1000-623del	GNAL	ENSG00000141404.17	transcript	ENST00000423027.8	protein_coding	11/11			chr18	TogoVar
GON4L_chr1_155744659_155862214	155748960	TTAAGTTT others(305): Show TTAAGTTTCTTGGGCTAGGCATGGTGGCTGACGCCTGTAATCCCAGCACT TTGGGAGGCTGAGGTGGGCAGATCACCTGAGGCCAGGAATTCGAGACCAG CCTGACCAACATGGTGAACCCCATCTCTACTAAAAACATAAAATTAGCCA GGCATGGTGGCACATGCCTGCAATCCCAGCTACTTGGGAGGATGAGGCAG AAGAATTGTTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACA CCATTGCACTCCAGTCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAGA AAAAGAATTCTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0141 a0002c0002t0010g0141	1	218	0.0046	-312	c.13 others(11): Show c.1312_*1623del	GON4L	ENSG00000116580.20	transcript	ENST00000368331.6	protein_coding		698		chr1	TogoVar
HACE1_chr6_104723094_104864919	104774081	TTTTTTTT others(305): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAC AGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02559.hp1 HG02615.hp1 others(7): Show HG02257.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02965.hp1 HG02976.hp2 HG03516.hp2 HG03579.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 others(7): Show a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0084 a0001c0002t0001g0117 a0001c0002t0001g0118	10	346	0.0289	-312	c.186 others(19): Show c.1865-2319_1865-2008del	HACE1	ENSG00000085382.12	transcript	ENST00000262903.9	protein_coding	17/23			chr6	TogoVar
IKBKB_chr8_42266302_42337460	42327797	TAATTTTG others(305): Show TAATTTTGTATTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCC AGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCC GCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCA TGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(151): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp2 HG01361.hp1 HG01928.hp1 HG01928.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02615.hp1 HG02698.hp1 HG02723.hp1 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG03195.hp2 HG03209.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18953.hp1 NA18953.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18978.hp2 NA18979.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18994.hp1 NA18994.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19004.hp1 NA19006.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19043.hp2 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19078.hp2 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0005 others(3): Show a0001c0001 a0001c0004 a0001c0005 a0001c0007 a0001c0009 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0004t0001 a0001c0005t0001 a0001c0007t0011 a0001c0009t0001 a0002c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(147): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0173 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0003g0118 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0226 a0001c0001t0003g0232 a0001c0001t0003g0243 a0001c0001t0008g0204 a0001c0001t0008g0231 a0001c0001t0008g0259 a0001c0001t0010g0069 a0001c0001t0013g0110 a0001c0001t0014g0215 a0001c0001t0015g0089 a0001c0001t0016g0120 a0001c0004t0001g0073 a0001c0004t0001g0074 a0001c0005t0001g0010 a0001c0007t0011g0132 a0001c0009t0001g0225 a0002c0002t0001g0205 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0216 a0002c0002t0001g0227 a0002c0002t0001g0252 a0002c0002t0001g0256 a0002c0002t0001g0260 a0002c0002t0001g0261	154	278	0.5540	-312	c.211 others(19): Show c.2115-1312_2115-1001del	IKBKB	ENSG00000104365.16	transcript	ENST00000520810.6	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr8	TogoVar
IPP_chr1_45693711_45755653	45741614	TCTTATTT others(305): Show TCTTATTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCCCGCTC TTTAGCCCAGGCCGGATTGCAGTGGCACAATCTTGGCTCACTGCAAGCTC CGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTGTTAGCCAAGATGGTCTCGATCTCCTGACCTT GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCAGC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00544.hp1 others(47): Show HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00642.hp1 HG00733.hp1 HG01099.hp2 HG01192.hp1 HG01256.hp1 HG01256.hp2 HG01361.hp1 HG01891.hp1 HG01981.hp1 HG01981.hp2 HG02055.hp2 HG02083.hp1 HG02109.hp2 HG02257.hp2 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02559.hp2 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02895.hp2 HG02922.hp2 HG03017.hp2 HG03195.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03834.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 NA18522.hp2 NA18959.hp1 NA18959.hp2 NA18975.hp2 NA19002.hp1 NA19043.hp1 NA19240.hp1 NA20129.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0004 a0003c0003 a0002c0002 a0002c0004 a0003c0003	a0002c0002t0001 a0002c0002t0007 a0002c0002t0009 others(2): Show a0002c0002t0001 a0002c0002t0007 a0002c0002t0009 a0002c0004t0006 a0003c0003t0001	a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 others(47): Show a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0007g0121 a0002c0002t0009g0081 a0002c0004t0006g0075 a0002c0004t0006g0076 a0003c0003t0001g0080 a0003c0003t0001g0094	50	128	0.3906	-312	c.293 others(15): Show c.293-594_293-283del	IPP	ENSG00000197429.11	transcript	ENST00000396478.4	protein_coding	2/8			chr1	TogoVar
LGR5_chr12_71434798_71591310	71563936	ACACCGTG others(305): Show ACACCGTGTATATATGCATATATACGTATCTGTACACACGCACTGTGTAT ATATGCATATATACGTATCTGTACACACGCACCGTGTATATATGCATATA TACGTATCTGTATACACGCACCGTGTATATATGCATATATACGTATCTGT ACACACGCACCGTGTATATATGCATATATACGTATCTGTACACACGCACC GTGTATATATGCATATATACGTATCTGTACACACGCACCGTGTATATATG CATATATACGTATCTGTACACACGCACCGTGTATATATGCATATATACGT ATCTGTACACACG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00423.hp2 others(41): Show HG00140.hp1 HG00323.hp1 HG00423.hp2 HG00438.hp1 HG01243.hp1 HG01361.hp1 HG01361.hp2 HG01517.hp1 HG01884.hp1 HG01993.hp1 HG02080.hp2 HG02145.hp1 HG02258.hp1 HG03195.hp1 HG03225.hp2 HG03239.hp2 HG03579.hp2 HG04115.hp1 HG04228.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18948.hp1 NA18951.hp2 NA18957.hp2 NA18960.hp2 NA18962.hp2 NA18965.hp2 NA18966.hp1 NA18987.hp2 NA18990.hp1 NA18995.hp1 NA19000.hp2 NA19002.hp1 NA19010.hp2 NA19011.hp2 NA19056.hp2 NA19062.hp1 NA19076.hp1 NA19084.hp1 NA19085.hp2 NA19087.hp1 NA19090.hp1 NA20805.hp1	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0005c0007 a0007c0010 a0001c0001 a0005c0007 a0007c0010	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(4): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0014 a0005c0007t0006 a0007c0010t0003	a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0061 others(41): Show a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0061 a0001c0001t0003g0077 a0001c0001t0003g0089 a0001c0001t0003g0099 a0001c0001t0003g0105 a0001c0001t0003g0108 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0117 a0001c0001t0003g0119 a0001c0001t0003g0133 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0149 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0160 a0001c0001t0004g0007 a0001c0001t0004g0014 a0001c0001t0004g0034 a0001c0001t0004g0039 a0001c0001t0004g0050 a0001c0001t0004g0052 a0001c0001t0004g0053 a0001c0001t0004g0164 a0001c0001t0004g0168 a0001c0001t0006g0187 a0001c0001t0006g0189 a0001c0001t0006g0192 a0001c0001t0006g0193 a0001c0001t0008g0013 a0001c0001t0014g0054 a0005c0007t0006g0190 a0007c0010t0003g0121	44	200	0.2200	-312	c.857 others(17): Show c.857+2127_858-2114del	LGR5	ENSG00000139292.13	transcript	ENST00000266674.10	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
LMLN_chr3_197955217_198048720	198004562	CATCTATA others(305): Show CATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTTTGACA TCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTTTGA CATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTTT GACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGT TTGACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAA GTTTGACATCTATCTATATATCATCTATACAGATACATATCATACGTAGT AAGTTTGACATCT	C C	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18966.hp2 NA18945.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0154 a0001c0001t0015g0149 a0001c0001t0001g0154 a0001c0001t0015g0149	2	258	0.0078	-312	c.131 others(19): Show c.1319+1588_1319+1899del	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
LMLN_chr3_197955217_198048720	198004713	ACATCTAT others(305): Show ACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTT TGACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAG TTTGACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTA AGTTTGACATCTATCTATATATCATCTATACAGATACATATCATACGTAG TAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCATACGT AGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCATAC GTAGTAAGTTTGC	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00639.hp2 HG00738.hp1 others(18): Show HG00609.hp1 HG00639.hp2 HG00738.hp1 HG01106.hp2 HG01255.hp2 HG01358.hp2 HG01361.hp1 HG01928.hp1 HG01975.hp2 HG02056.hp1 HG03453.hp1 HG03669.hp1 NA18612.hp2 NA18940.hp1 NA18957.hp2 NA18979.hp2 NA18986.hp1 NA18994.hp1 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0033 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0033 a0001c0001t0040	a0001c0001t0001g0083 a0001c0001t0001g0137 a0001c0001t0001g0150 others(18): Show a0001c0001t0001g0083 a0001c0001t0001g0137 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0223 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0007g0084 a0001c0001t0007g0089 a0001c0001t0033g0233 a0001c0001t0040g0170	21	258	0.0814	-312	c.131 others(19): Show c.1319+1888_1319+2199del	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MAML1_chr5_179727822_179782283	179780889	GAATCTTC others(305): Show GAATCTTCAAGAGCTATAGATACTGCCGTCCGAGCTCTCTAGAGCTAGAG GCCTAAGGAGGTCCTAGCCCCCAAGTAATAAAAAATTTAAATCTTGGCAG GGTGCGGTGGCTCATGCCTATAATCCCAGCACTTTGGAAGGCCAAGGCAG GAGTATCGCTTGAGTCCAGTAGTTTGAGACCAGCCTGGGCAACATGGTGA GACCCCATCTCTACAAAAAGTTAGCCGAGCGTGGTGACACACTCCTGTAG TCCCAGCTACTAGGGAGGCTGAGGTGGGAGGCTTGCTTGAGACTGGGAGG GCGAGGCGGCAGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0095 a0002c0002t0002g0095	1	360	0.0028	-312	c.60 others(11): Show c.6013_*6324del	MAML1	ENSG00000161021.13	transcript	ENST00000292599.4	protein_coding		3607		chr5	TogoVar
MDGA2_chr14_46835092_47680605	46964910	ATATATTT others(305): Show ATATATTTACTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCT GTCGTCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGG ACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGCATTTTTAGTAG AGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGCGAGCC ACCGCGCCCGGCC	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01496.hp2 HG01891.hp1 others(16): Show HG01192.hp1 HG01496.hp2 HG01891.hp1 HG01981.hp1 HG02257.hp1 HG02451.hp2 HG02572.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03225.hp1 HG03225.hp2 HG03516.hp2 HG04228.hp2 NA18906.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0002c0006 a0002c0010 others(1): Show a0002c0002 a0002c0006 a0002c0010 a0006c0009	a0002c0002t0001 a0002c0002t0004 a0002c0002t0005 others(7): Show a0002c0002t0001 a0002c0002t0004 a0002c0002t0005 a0002c0002t0009 a0002c0002t0011 a0002c0002t0013 a0002c0002t0019 a0002c0006t0003 a0002c0010t0005 a0006c0009t0004	a0002c0002t0001g0053 a0002c0002t0001g0081 a0002c0002t0001g0114 others(16): Show a0002c0002t0001g0053 a0002c0002t0001g0081 a0002c0002t0001g0114 a0002c0002t0004g0007 a0002c0002t0004g0008 a0002c0002t0005g0073 a0002c0002t0005g0074 a0002c0002t0005g0105 a0002c0002t0005g0107 a0002c0002t0009g0039 a0002c0002t0009g0104 a0002c0002t0009g0113 a0002c0002t0011g0014 a0002c0002t0011g0020 a0002c0002t0013g0084 a0002c0002t0019g0025 a0002c0006t0003g0059 a0002c0010t0005g0119 a0006c0009t0004g0006	19	120	0.1583	-312	c.182 others(19): Show c.1820-7579_1820-7268del	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	8/16			chr14	TogoVar
MGRN1_chr16_4619826_4695972	4622100	TCTCAGCC others(305): Show TCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACGTGCCACCACACCCAG CTAATTTTTGTTTTTAGTAGAGACGGGTTTTTGCCATGTTGGCCAGGCTA GTCTCCAACTCCTGACCTTGAATGATCCGCCCACCTCGGCCTCCCAAAGT GCTGGGATTCCAGGTGTGAACCATTGCACCCGGCCAGATAATTGTTTTTT AATTATTATTATTTTTGGAAACAGAGTCTCGCTCTGTCACCCACACTGGA GTGCAGTGGGGCAATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAA GCGATTCTCCTGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01243.hp1 HG02055.hp1 others(25): Show HG01175.hp2 HG01243.hp1 HG02055.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG03130.hp2 HG03139.hp1 HG03225.hp2 HG03453.hp1 HG03540.hp2 HG03579.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18979.hp1 NA19030.hp2 NA20129.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(11): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0037 a0001c0002t0005 a0001c0004t0036 a0001c0006t0009	a0001c0001t0003g0009 a0001c0001t0003g0013 a0001c0001t0003g0097 others(25): Show a0001c0001t0003g0009 a0001c0001t0003g0013 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0004g0011 a0001c0001t0004g0089 a0001c0001t0005g0044 a0001c0001t0005g0083 a0001c0001t0005g0084 a0001c0001t0005g0086 a0001c0001t0005g0088 a0001c0001t0005g0091 a0001c0001t0008g0095 a0001c0001t0008g0100 a0001c0001t0009g0090 a0001c0001t0009g0092 a0001c0001t0009g0093 a0001c0001t0009g0094 a0001c0001t0009g0101 a0001c0001t0014g0096 a0001c0001t0019g0010 a0001c0001t0020g0012 a0001c0001t0022g0014 a0001c0001t0024g0085 a0001c0001t0037g0082 a0001c0002t0005g0001 a0001c0004t0036g0087 a0001c0006t0009g0099	28	334	0.0838	-312	c.-28 others(11): Show c.-2860_-2549del	MGRN1	ENSG00000102858.13	transcript	ENST00000262370.12	protein_coding		2725		chr16	TogoVar
MPPE1_chr18_11877622_11913317	11880054	CAAGACCA others(305): Show CAAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACA AAAAGTAGCCAGGCGTGGTGGCGCACGCCTGTAATCCCAGCTACTCAGGA GGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAG CCGAGATGGCACCACTGCACTCCAGCCTGGGGGACACAGCGAGACTCCAT CTCAAACAAACAAAAAAACAAACAAGCTAATTAGGTGGGGCACAGTGGCT CATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACTTG AGGTCAGGAGTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG01074.hp2 HG01361.hp1 others(26): Show HG00609.hp2 HG01074.hp2 HG01361.hp1 HG02004.hp2 HG02056.hp1 HG02083.hp1 HG02165.hp2 HG02257.hp1 HG02698.hp1 HG03834.hp1 NA18940.hp1 NA18944.hp2 NA18947.hp1 NA18952.hp2 NA18962.hp2 NA18966.hp1 NA18968.hp2 NA18971.hp1 NA18978.hp1 NA18979.hp2 NA18988.hp2 NA19005.hp1 NA19006.hp2 NA19058.hp2 NA19063.hp1 NA19077.hp1 NA19077.hp2 NA19085.hp1 NA19087.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004 a0004c0005	a0001c0001t0010 a0001c0001t0020 a0001c0001t0029 others(11): Show a0001c0001t0010 a0001c0001t0020 a0001c0001t0029 a0001c0001t0031 a0001c0001t0053 a0001c0001t0114 a0001c0003t0010 a0001c0003t0029 a0001c0003t0109 a0002c0002t0001 a0002c0002t0047 a0002c0002t0093 a0003c0004t0103 a0004c0005t0074	a0001c0001t0010g0273 a0001c0001t0010g0312 a0001c0001t0010g0352 others(26): Show a0001c0001t0010g0273 a0001c0001t0010g0312 a0001c0001t0010g0352 a0001c0001t0010g0356 a0001c0001t0020g0091 a0001c0001t0020g0252 a0001c0001t0020g0275 a0001c0001t0020g0276 a0001c0001t0029g0154 a0001c0001t0031g0155 a0001c0001t0031g0159 a0001c0001t0031g0278 a0001c0001t0053g0157 a0001c0001t0053g0158 a0001c0001t0114g0254 a0001c0003t0010g0185 a0001c0003t0010g0303 a0001c0003t0010g0343 a0001c0003t0010g0344 a0001c0003t0010g0353 a0001c0003t0029g0186 a0001c0003t0029g0187 a0001c0003t0109g0188 a0002c0002t0001g0006 a0002c0002t0047g0164 a0002c0002t0047g0183 a0002c0002t0093g0323 a0003c0004t0103g0359 a0004c0005t0074g0357	29	456	0.0636	-312	c.40 others(11): Show c.4079_*4390del	MPPE1	ENSG00000154889.17	transcript	ENST00000588072.6	protein_coding		2567		chr18	TogoVar
NEU4_chr2_241804193_241822413	241807100	CTCCCTCC others(305): Show CTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAG GCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCC TCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCC GGGAAGAGCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0011 a0001c0004t0001g0011	1	319	0.0031	-312	c.-21 others(11): Show c.-2177_-1866del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2092		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807615	TCCCCCCT others(305): Show TCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGG ACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGG CCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGGACCTCTGCAGGCCACCTTCCCTCCCTCCCCCCTCAGCCCAGGGA CCTCTGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0116 a0001c0004t0001g0116	1	319	0.0031	-312	c.-16 others(11): Show c.-1662_-1351del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1577		chr2	TogoVar
NOTO_chr2_73197574_73217513	73203803	TAAAAGAC others(305): Show TAAAAGACAAAAAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTA GCCGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCTACACAGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAA AAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00609.hp1 others(80): Show HG00140.hp1 HG00140.hp2 HG00609.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp2 HG01975.hp1 HG01981.hp1 HG02055.hp1 HG02109.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18980.hp2 NA19011.hp1 NA19043.hp1 NA19088.hp1 NA19240.hp1 NA20129.hp2 NA20905.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0003 a0003c0004 others(1): Show a0001c0001 a0001c0003 a0003c0004 a0006c0008	a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 others(7): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0014 a0001c0003t0004 a0001c0003t0008 a0001c0003t0016 a0003c0004t0007 a0006c0008t0013	a0001c0001t0003g0003 a0001c0001t0003g0016 a0001c0001t0003g0037 others(32): Show a0001c0001t0003g0003 a0001c0001t0003g0016 a0001c0001t0003g0037 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0006g0009 a0001c0001t0006g0036 a0001c0001t0006g0100 a0001c0001t0007g0039 a0001c0001t0010g0009 a0001c0001t0010g0036 a0001c0001t0014g0016 a0001c0003t0004g0007 a0001c0003t0004g0011 a0001c0003t0004g0090 a0001c0003t0004g0093 a0001c0003t0004g0101 a0001c0003t0004g0102 a0001c0003t0004g0103 a0001c0003t0004g0105 a0001c0003t0004g0106 a0001c0003t0004g0107 a0001c0003t0008g0007 a0001c0003t0008g0011 a0001c0003t0008g0038 a0001c0003t0016g0011 a0003c0004t0007g0017 a0003c0004t0007g0108 a0006c0008t0013g0104	83	380	0.2184	-312	c.382 others(16): Show c.382+771_382+1082del	NOTO	ENSG00000214513.4	transcript	ENST00000398468.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
NRXN3_chr14_78165373_79873291	78879949	TAAGAATT others(305): Show TAAGAATTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGG CTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGG GCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGG AGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03516.hp2 HG03453.hp1 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0010 a0001c0002 a0001c0010	a0001c0002t0011 a0001c0010t0001 a0001c0002t0011 a0001c0010t0001	a0001c0002t0011g0016 a0001c0010t0001g0012 a0001c0002t0011g0016 a0001c0010t0001g0012	2	24	0.0833	-312	c.227 others(21): Show c.2275+69614_2275+69925del	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NTM_chr11_131365615_132341822	132069174	CGTCACAC others(305): Show CGTCACACAGCCAAGTTAACACGTCAAACTGACCATCACAGGTTAGTTAA CACGTCACTCAGCCAAGTTAACACGTCACACTGACCATCACAGATTAGTT AACACGTCACTCAGCCAAGTTAACACGTCACACTGACCATCACAGGTTAG TTAACACGTCACACAGCCAAGTTAACACGTCACACTGACCATCACAGGTT AGTTAACACGTCACTCAGCCAAGTTAACACGTCAAACTGACTGTCACCGG TTAGTTAACACGTCACACAGCCAAGTTAACACGTCAAACTGACCGTCACA GGTTAGTTAACAT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0043 a0001c0001t0004g0043	1	86	0.0116	-312	c.168 others(19): Show c.168-77082_168-76771del	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
OPRL1_chr20_64075082_64105633	64090734	CCACTGAT others(305): Show CCACTGATCTGGGGCCCAGCTGTGGCAGAGGTGCCCTGGGCACTGATCTG GGGCCCAGCTGTGGCAGAGGTGCCCTGGGCACTGATCTGGGGCCCAGCTG TGGCAGAGGTGCCCTGGGCACTGATCTGGGGCCCAGCTGTGGCAGAGGTG CCCTGGGCACTGATCTGGGGCCCAGCTGTGGCAGGGGTGCCCTGGGCACT GATCTGGGGCCCAGCTGTGGCAGAGGTGCCCTGGGCACTGATCTGGGGCC CAGCTGTGGCAGGGGTGCCCTGGGCACTGATCTGGGGCCCAGCTGTGGCA GAGGTGCCCTGGG	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01074.hp1 HG01106.hp1 others(29): Show HG00741.hp2 HG01074.hp1 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01934.hp1 HG01934.hp2 HG02074.hp1 HG02074.hp2 HG02165.hp1 HG02165.hp2 HG02602.hp1 HG02738.hp1 HG02897.hp2 HG02970.hp2 HG03490.hp1 HG03579.hp1 HG03704.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 NA19081.hp1 NA19081.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0004 a0001c0001 a0001c0005 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0016 a0001c0001t0021 a0001c0005t0006 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0022 others(25): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0002g0038 a0001c0001t0003g0007 a0001c0001t0003g0037 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0006g0002 a0001c0001t0007g0004 a0001c0001t0007g0023 a0001c0001t0007g0031 a0001c0001t0008g0028 a0001c0001t0008g0030 a0001c0001t0012g0016 a0001c0001t0012g0017 a0001c0001t0016g0043 a0001c0001t0021g0014 a0001c0005t0006g0012 a0003c0004t0001g0029	32	66	0.4849	-312	c.-18 others(18): Show c.-184-1048_-184-737del	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
P4HA1_chr10_73002217_73101866	73038613	TTTTATTT others(305): Show TTTTATTTGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGTGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00438.hp2 others(91): Show HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG01074.hp2 HG01081.hp1 HG01123.hp1 HG01243.hp1 HG01256.hp2 HG01261.hp1 HG01346.hp2 HG01884.hp1 HG01891.hp1 HG01978.hp1 HG02040.hp1 HG02055.hp1 HG02071.hp2 HG02080.hp2 HG02145.hp1 HG02155.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02602.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03098.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03516.hp1 HG03579.hp1 HG03688.hp1 HG03704.hp2 HG03834.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp2 NA18940.hp1 NA18942.hp1 NA18949.hp2 NA18952.hp2 NA18953.hp2 NA18963.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18978.hp1 NA18986.hp2 NA18993.hp2 NA18998.hp1 NA18999.hp2 NA19002.hp1 NA19005.hp2 NA19009.hp2 NA19043.hp1 NA19054.hp1 NA19055.hp1 NA19057.hp1 NA19060.hp1 NA19065.hp1 NA19075.hp1 NA19077.hp2 NA19082.hp1 NA19083.hp1 NA19085.hp1 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(4): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0002t0004 a0001c0002t0013	a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 others(91): Show a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0005g0084 a0001c0001t0005g0085 a0001c0001t0005g0086 a0001c0001t0005g0087 a0001c0001t0005g0088 a0001c0001t0005g0089 a0001c0001t0005g0091 a0001c0001t0005g0092 a0001c0001t0005g0093 a0001c0001t0005g0094 a0001c0001t0005g0190 a0001c0001t0005g0192 a0001c0001t0005g0199 a0001c0001t0005g0226 a0001c0001t0005g0227 a0001c0001t0005g0233 a0001c0001t0005g0234 a0001c0001t0008g0053 a0001c0001t0010g0004 a0001c0001t0014g0090 a0001c0002t0004g0060 a0001c0002t0004g0061 a0001c0002t0004g0062 a0001c0002t0004g0063 a0001c0002t0004g0064 a0001c0002t0004g0065 a0001c0002t0004g0066 a0001c0002t0004g0067 a0001c0002t0004g0068 a0001c0002t0004g0069 a0001c0002t0004g0070 a0001c0002t0004g0071 a0001c0002t0004g0072 a0001c0002t0004g0073 a0001c0002t0004g0074 a0001c0002t0004g0075 a0001c0002t0004g0076 a0001c0002t0004g0077 a0001c0002t0013g0078	94	234	0.4017	-312	c.114 others(19): Show c.1148+6056_1148+6367del	P4HA1	ENSG00000122884.13	transcript	ENST00000394890.7	protein_coding	9/14			chr10	TogoVar
PADI6_chr1_17367196_17406699	17379101	TGCCCAGT others(305): Show TGCCCAGTTAATTTTTTTTTTTTTTTTTTTTTAAGACGGAGTCTCGCTGT CGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGC CCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGAAGCTGGGA CTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ATCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01106.hp1 HG01167.hp2 others(8): Show HG01099.hp1 HG01106.hp1 HG01167.hp2 HG01884.hp2 HG02145.hp1 HG02258.hp2 HG02572.hp2 HG02622.hp2 HG02717.hp2 HG02818.hp1 HG03471.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0005 a0005c0009 a0001c0001 a0002c0005 a0005c0009	a0001c0001t0002 a0002c0005t0002 a0002c0005t0009 others(1): Show a0001c0001t0002 a0002c0005t0002 a0002c0005t0009 a0005c0009t0002	a0001c0001t0002g0015 a0001c0001t0002g0055 a0001c0001t0002g0056 others(7): Show a0001c0001t0002g0015 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0062 a0002c0005t0002g0052 a0002c0005t0002g0053 a0002c0005t0009g0061 a0005c0009t0002g0060	11	412	0.0267	-312	c.368 others(15): Show c.368-803_368-492del	PADI6	ENSG00000276747.1	transcript	ENST00000619609.1	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAK5_chr20_9532370_9844076	9569689	GAAGGTAG others(305): Show GAAGGTAGTCATTCTATCACATCATGGAGCAATAACTGCACACAGTGGGC TCTTTAAAATTGCTACCATAGCACCATTCTCAGTCCCCCAACACTGCCCA TTGGTTCTACAATGACAGTGCCTGGCCTGCTGAACATTCAGCAATGCAGC CCTTCCAGCTTCAAAAACACTACACTTTACTAGGTGAATTCACCACTCAG ACAGCCTTGGCATCAACCAGCAGGAACCAGGGTAGCTGCTAAGCTGCCCT CCTGCCCTGGTTGCAGAGAGAACACATGCTTTTGACGGGCATAGGAATGA ATTCTGACTGATA	G G	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0109 a0001c0002t0022g0109	1	208	0.0048	-312	c.991 others(17): Show c.991-3617_991-3306del	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	4/9			chr20	TogoVar
PCSK5_chr9_75885673_76367975	76121810	ATTGGTTT others(305): Show ATTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCAGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCC	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG00639.hp1 others(68): Show HG00544.hp1 HG00544.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01081.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01934.hp2 HG02055.hp2 HG02145.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG02895.hp2 HG02897.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03516.hp2 HG03540.hp2 HG03669.hp2 HG04115.hp2 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA18983.hp2 NA18991.hp1 NA18993.hp1 NA19000.hp1 NA19000.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20805.hp1 NA21309.hp1	a0001 a0002 a0003 others(30): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0022 a0023 a0024 a0026 a0027 a0028 a0029 a0033 a0035 a0036 a0037 a0038 a0046	a0001c0001 a0001c0004 a0001c0013 others(47): Show a0001c0001 a0001c0004 a0001c0013 a0002c0009 a0002c0016 a0002c0019 a0002c0047 a0002c0097 a0003c0005 a0003c0010 a0004c0006 a0004c0070 a0005c0002 a0005c0037 a0006c0012 a0007c0008 a0007c0076 a0008c0003 a0009c0011 a0009c0038 a0010c0018 a0010c0021 a0010c0059 a0011c0007 a0012c0020 a0013c0032 a0013c0087 a0014c0092 a0015c0023 a0016c0028 a0017c0027 a0018c0069 a0019c0025 a0020c0048 a0022c0024 a0023c0044 a0023c0093 a0024c0042 a0026c0030 a0026c0061 a0027c0039 a0027c0079 a0028c0073 a0029c0034 a0033c0031 a0035c0055 a0036c0050 a0037c0086 a0038c0077 a0046c0056	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(63): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0026 a0001c0004t0001 a0001c0004t0002 a0001c0004t0027 a0001c0013t0023 a0002c0009t0007 a0002c0009t0025 a0002c0009t0038 a0002c0016t0019 a0002c0016t0020 a0002c0019t0007 a0002c0019t0011 a0002c0047t0045 a0002c0097t0002 a0003c0005t0003 a0003c0005t0007 a0003c0005t0011 a0003c0010t0003 a0003c0010t0011 a0003c0010t0054 a0004c0006t0005 a0004c0070t0042 a0005c0002t0029 a0005c0037t0014 a0006c0012t0007 a0007c0008t0001 a0007c0076t0001 a0008c0003t0002 a0009c0011t0006 a0009c0011t0017 a0009c0038t0021 a0010c0018t0002 a0010c0018t0051 a0010c0021t0002 a0010c0059t0002 a0011c0007t0008 a0012c0020t0003 a0013c0032t0009 a0013c0087t0040 a0014c0092t0050 a0015c0023t0004 a0016c0028t0062 a0017c0027t0005 a0018c0069t0003 a0019c0025t0001 a0020c0048t0055 a0022c0024t0004 a0023c0044t0015 a0023c0093t0004 a0024c0042t0013 a0026c0030t0022 a0026c0061t0004 a0027c0039t0014 a0027c0079t0041 a0028c0073t0031 a0029c0034t0013 a0033c0031t0044 a0035c0055t0010 a0036c0050t0015 a0037c0086t0001 a0038c0077t0036 a0046c0056t0019	a0001c0001t0002g0097 a0001c0001t0002g0112 a0001c0001t0003g0155 others(68): Show a0001c0001t0002g0097 a0001c0001t0002g0112 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0005g0047 a0001c0001t0008g0068 a0001c0001t0026g0087 a0001c0004t0001g0022 a0001c0004t0002g0152 a0001c0004t0027g0031 a0001c0013t0023g0137 a0002c0009t0007g0039 a0002c0009t0025g0084 a0002c0009t0038g0070 a0002c0016t0019g0064 a0002c0016t0020g0057 a0002c0019t0007g0011 a0002c0019t0011g0085 a0002c0047t0045g0123 a0002c0097t0002g0148 a0003c0005t0003g0147 a0003c0005t0007g0030 a0003c0005t0011g0094 a0003c0010t0003g0021 a0003c0010t0011g0086 a0003c0010t0054g0083 a0004c0006t0005g0027 a0004c0070t0042g0050 a0005c0002t0029g0157 a0005c0037t0014g0118 a0006c0012t0007g0034 a0007c0008t0001g0026 a0007c0076t0001g0029 a0008c0003t0002g0102 a0009c0011t0006g0020 a0009c0011t0017g0019 a0009c0038t0021g0132 a0010c0018t0002g0067 a0010c0018t0051g0088 a0010c0021t0002g0151 a0010c0059t0002g0141 a0011c0007t0008g0006 a0011c0007t0008g0113 a0012c0020t0003g0106 a0012c0020t0003g0154 a0013c0032t0009g0127 a0013c0087t0040g0098 a0014c0092t0050g0082 a0015c0023t0004g0005 a0016c0028t0062g0074 a0017c0027t0005g0013 a0018c0069t0003g0063 a0019c0025t0001g0146 a0020c0048t0055g0138 a0022c0024t0004g0071 a0022c0024t0004g0072 a0023c0044t0015g0134 a0023c0093t0004g0051 a0024c0042t0013g0129 a0026c0030t0022g0128 a0026c0061t0004g0142 a0027c0039t0014g0126 a0027c0079t0041g0073 a0028c0073t0031g0108 a0029c0034t0013g0131 a0033c0031t0044g0135 a0035c0055t0010g0002 a0036c0050t0015g0116 a0037c0086t0001g0159 a0038c0077t0036g0149 a0046c0056t0019g0055	71	166	0.4277	-312	c.120 others(21): Show c.1209-12289_1209-11978del	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	9/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PLSCR4_chr3_146187335_146256105	146214111	ATCTTCCT others(305): Show ATCTTCCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00423.hp1 others(265): Show HG00099.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03209.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.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18959.hp2 NA18961.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19070.hp1 NA19072.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0007 a0002c0002 others(4): Show a0001c0001 a0001c0007 a0002c0002 a0002c0008 a0003c0003 a0004c0004 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(53): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0027 a0001c0001t0030 a0001c0001t0034 a0001c0001t0035 a0001c0007t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009 a0002c0002t0013 a0002c0002t0015 a0002c0002t0016 a0002c0002t0026 a0002c0002t0029 a0002c0002t0031 a0002c0002t0032 a0002c0008t0002 a0003c0003t0001 a0003c0003t0006 a0003c0003t0010 a0003c0003t0011 a0003c0003t0012 a0003c0003t0014 a0003c0003t0015 a0003c0003t0018 a0003c0003t0019 a0003c0003t0028 a0003c0003t0033 a0004c0004t0001 a0004c0004t0006 a0005c0005t0009 a0005c0005t0015 a0005c0005t0021	a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 others(220): Show a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0135 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0248 a0001c0001t0001g0274 a0001c0001t0001g0283 a0001c0001t0001g0312 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0002g0001 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0133 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0146 a0001c0001t0002g0185 a0001c0001t0002g0207 a0001c0001t0002g0209 a0001c0001t0002g0227 a0001c0001t0003g0006 a0001c0001t0003g0051 a0001c0001t0003g0170 a0001c0001t0003g0173 a0001c0001t0003g0180 a0001c0001t0003g0187 a0001c0001t0003g0189 a0001c0001t0003g0193 a0001c0001t0003g0197 a0001c0001t0003g0200 a0001c0001t0003g0225 a0001c0001t0003g0239 a0001c0001t0003g0241 a0001c0001t0003g0256 a0001c0001t0003g0272 a0001c0001t0004g0142 a0001c0001t0004g0171 a0001c0001t0004g0179 a0001c0001t0004g0183 a0001c0001t0004g0194 a0001c0001t0004g0208 a0001c0001t0004g0213 a0001c0001t0004g0226 a0001c0001t0004g0232 a0001c0001t0004g0235 a0001c0001t0005g0172 a0001c0001t0005g0178 a0001c0001t0005g0182 a0001c0001t0005g0201 a0001c0001t0005g0218 a0001c0001t0005g0313 a0001c0001t0006g0004 a0001c0001t0006g0029 a0001c0001t0006g0192 a0001c0001t0006g0261 a0001c0001t0006g0284 a0001c0001t0007g0024 a0001c0001t0007g0139 a0001c0001t0007g0203 a0001c0001t0007g0271 a0001c0001t0009g0053 a0001c0001t0009g0163 a0001c0001t0009g0164 a0001c0001t0010g0149 a0001c0001t0010g0151 a0001c0001t0012g0147 a0001c0001t0012g0148 a0001c0001t0012g0150 a0001c0001t0012g0273 a0001c0001t0012g0299 a0001c0001t0013g0285 a0001c0001t0014g0025 a0001c0001t0014g0270 a0001c0001t0015g0216 a0001c0001t0016g0255 a0001c0001t0017g0211 a0001c0001t0017g0212 a0001c0001t0022g0162 a0001c0001t0023g0144 a0001c0001t0024g0217 a0001c0001t0027g0195 a0001c0001t0030g0231 a0001c0001t0034g0320 a0001c0001t0035g0319 a0001c0007t0003g0190 a0002c0002t0001g0034 a0002c0002t0001g0036 a0002c0002t0001g0038 a0002c0002t0001g0134 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0252 a0002c0002t0001g0257 a0002c0002t0001g0259 a0002c0002t0001g0265 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0288 a0002c0002t0001g0291 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0037 a0002c0002t0002g0136 a0002c0002t0002g0249 a0002c0002t0002g0260 a0002c0002t0002g0262 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0269 a0002c0002t0002g0276 a0002c0002t0002g0287 a0002c0002t0002g0289 a0002c0002t0002g0294 a0002c0002t0002g0298 a0002c0002t0003g0278 a0002c0002t0003g0296 a0002c0002t0003g0307 a0002c0002t0004g0002 a0002c0002t0004g0035 a0002c0002t0004g0039 a0002c0002t0004g0253 a0002c0002t0004g0254 a0002c0002t0004g0258 a0002c0002t0004g0263 a0002c0002t0004g0290 a0002c0002t0005g0041 a0002c0002t0005g0042 a0002c0002t0005g0250 a0002c0002t0005g0251 a0002c0002t0005g0293 a0002c0002t0006g0090 a0002c0002t0006g0295 a0002c0002t0007g0292 a0002c0002t0007g0297 a0002c0002t0007g0306 a0002c0002t0008g0040 a0002c0002t0008g0043 a0002c0002t0008g0277 a0002c0002t0008g0282 a0002c0002t0008g0286 a0002c0002t0009g0089 a0002c0002t0013g0305 a0002c0002t0015g0264 a0002c0002t0016g0303 a0002c0002t0026g0304 a0002c0002t0029g0279 a0002c0002t0031g0275 a0002c0002t0032g0302 a0002c0008t0002g0266 a0003c0003t0001g0300 a0003c0003t0001g0301 a0003c0003t0006g0012 a0003c0003t0010g0157 a0003c0003t0010g0158 a0003c0003t0010g0159 a0003c0003t0010g0160 a0003c0003t0010g0161 a0003c0003t0010g0310 a0003c0003t0011g0005 a0003c0003t0011g0044 a0003c0003t0011g0046 a0003c0003t0011g0048 a0003c0003t0011g0049 a0003c0003t0012g0311 a0003c0003t0014g0052 a0003c0003t0015g0308 a0003c0003t0018g0047 a0003c0003t0019g0045 a0003c0003t0028g0156 a0003c0003t0033g0309 a0004c0004t0001g0152 a0004c0004t0001g0153 a0004c0004t0006g0154 a0004c0004t0006g0155 a0005c0005t0009g0317 a0005c0005t0015g0318 a0005c0005t0021g0314	268	380	0.7053	-312	c.118 others(17): Show c.118+6392_118+6703del	PLSCR4	ENSG00000114698.15	transcript	ENST00000354952.7	protein_coding	3/8			chr3	TogoVar
POLE_chr12_132618762_132692342	132688318	ACGGGTGA others(305): Show ACGGGTGAAGACAGGGCCAGGGGAGCGGGTCCTCATGGAGCGTGTGGAGA CAGGGCCAAGGGAGCGAGTCTGCGGGGCGCGGGTGAAGACAGCGCCAGGG GAGCGGGTCTTGGGGGCGCGGGTAAAGACAGGGCCAGGGGAGCGGGTCCT CATGGCGCGGGTGGAGACAGGGCCAAGGGAGCGGGTCTGCGGGGCGCGGG TGAAGACAGGGCCAAGGGAGCGGGTCTGCGGGGCGCGGGTGAAGACAGGG CGAGGGGAGCGGGTCTGCGGGGCACGGGTAAAGACAGGGCCAAGGGAGCG GGTCTGCGTGGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG00642.hp1 others(86): Show HG00140.hp1 HG00438.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp2 HG01168.hp1 HG01175.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp2 HG02055.hp1 HG02056.hp1 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02293.hp2 HG02602.hp1 HG02615.hp2 HG02683.hp2 HG02723.hp1 HG02809.hp1 HG02970.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp2 HG03540.hp1 HG03654.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04204.hp2 HG06807.hp2 NA18906.hp2 NA18939.hp1 NA18952.hp2 NA18954.hp2 NA18957.hp1 NA18962.hp1 NA18966.hp2 NA18969.hp2 NA18979.hp2 NA18989.hp1 NA18993.hp1 NA18998.hp2 NA19003.hp1 NA19012.hp1 NA19043.hp1 NA19064.hp1 NA19067.hp2 NA19077.hp2 NA19080.hp1 NA19084.hp2 NA19088.hp2 NA19240.hp2 NA20752.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0009 others(4): Show a0001 a0005 a0009 a0011 a0016 a0019 a0020	a0001c0002 a0001c0005 a0001c0033 others(7): Show a0001c0002 a0001c0005 a0001c0033 a0005c0010 a0009c0015 a0011c0037 a0011c0038 a0016c0030 a0019c0032 a0020c0031	a0001c0002t0001 a0001c0002t0002 a0001c0002t0009 others(11): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0009 a0001c0005t0003 a0001c0005t0004 a0001c0005t0008 a0001c0033t0002 a0005c0010t0003 a0009c0015t0003 a0011c0037t0001 a0011c0038t0004 a0016c0030t0002 a0019c0032t0002 a0020c0031t0002	a0001c0002t0001g0193 a0001c0002t0002g0002 a0001c0002t0002g0004 others(80): Show a0001c0002t0001g0193 a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0010 a0001c0002t0002g0182 a0001c0002t0002g0194 a0001c0002t0002g0195 a0001c0002t0002g0196 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0002t0002g0204 a0001c0002t0002g0206 a0001c0002t0002g0207 a0001c0002t0002g0208 a0001c0002t0002g0209 a0001c0002t0002g0210 a0001c0002t0002g0211 a0001c0002t0002g0212 a0001c0002t0002g0213 a0001c0002t0002g0214 a0001c0002t0002g0215 a0001c0002t0002g0217 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0227 a0001c0002t0002g0228 a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0002t0002g0231 a0001c0002t0002g0232 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0242 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0250 a0001c0002t0009g0249 a0001c0005t0003g0178 a0001c0005t0003g0179 a0001c0005t0003g0183 a0001c0005t0003g0184 a0001c0005t0003g0186 a0001c0005t0003g0187 a0001c0005t0003g0188 a0001c0005t0003g0189 a0001c0005t0003g0190 a0001c0005t0003g0275 a0001c0005t0004g0175 a0001c0005t0004g0191 a0001c0005t0008g0185 a0001c0033t0002g0243 a0005c0010t0003g0176 a0005c0010t0003g0177 a0005c0010t0003g0180 a0005c0010t0003g0181 a0009c0015t0003g0021 a0009c0015t0003g0022 a0009c0015t0003g0023 a0011c0037t0001g0241 a0011c0038t0004g0192 a0016c0030t0002g0205 a0019c0032t0002g0233 a0020c0031t0002g0216	89	292	0.3048	-312	c.-13 others(11): Show c.-1315_-1004del	POLE	ENSG00000177084.19	transcript	ENST00000320574.10	protein_coding		977		chr12	TogoVar
PRDM16_chr1_3064203_3443621	3165500	GACAGGGA others(305): Show GACAGGGACTCACCTGGGCTCAGGGACAGTGACTCACCTGGGCTCAGGGA CAGGGACTCACCAGGGCTCAGGGACAGGGACTCACCTGGGCCCAGGGACA GGGACTCACCTGGGCTCAGGGACAGGGACTCACCTGGGCTCAGGGACAGG GACTCACCTGGGCTCAGGGACAGTGACTCACCTGGGCCCAGGGACAGGGA CTCACCTGGGCTCAGGGACAGTGACTCACCTGGGCTCAGGGACAGTGACT CACCTGGGCCCAGGGACAGGGACTCACCAGGGCTCAGGGACAGGGACTCA CCAGGGCTCAGGC	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	210	0.0048	-312	c.38- others(17): Show c.38-20596_38-20285del	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRIM2_chr6_57312630_57651850	57598932	ACTGAGCT others(305): Show ACTGAGCTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCACCCGCTACCACACCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(222): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18940.hp1 NA18940.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18960.hp2 NA18962.hp2 NA18966.hp2 NA18968.hp1 NA18970.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18980.hp1 NA18981.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp2 NA18990.hp2 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19065.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004 a0003c0005 a0004c0006 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0002c0004t0004 a0003c0005t0001 a0004c0006t0012 a0005c0007t0003	a0001c0001t0001g0002 a0001c0001t0001g0040 a0001c0001t0001g0041 others(222): Show a0001c0001t0001g0002 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0174 a0001c0001t0001g0255 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0300 a0001c0001t0002g0004 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0199 a0001c0001t0002g0203 a0001c0001t0002g0217 a0001c0001t0002g0222 a0001c0001t0002g0229 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0242 a0001c0001t0002g0245 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0256 a0001c0001t0002g0283 a0001c0001t0002g0288 a0001c0001t0002g0291 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0155 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0284 a0001c0001t0004g0008 a0001c0001t0004g0110 a0001c0001t0004g0150 a0001c0001t0004g0152 a0001c0001t0004g0153 a0001c0001t0004g0154 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0163 a0001c0001t0004g0228 a0001c0001t0005g0275 a0001c0001t0005g0276 a0001c0001t0005g0277 a0001c0001t0005g0278 a0001c0001t0005g0279 a0001c0001t0005g0280 a0001c0001t0005g0281 a0001c0001t0005g0282 a0001c0001t0006g0177 a0001c0001t0007g0149 a0001c0001t0007g0171 a0001c0001t0009g0247 a0001c0001t0010g0204 a0001c0001t0011g0292 a0001c0002t0001g0003 a0001c0002t0001g0039 a0001c0002t0001g0047 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0068 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0074 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0122 a0001c0002t0001g0125 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0237 a0001c0002t0001g0299 a0001c0003t0001g0011 a0001c0003t0002g0037 a0001c0003t0003g0010 a0001c0003t0003g0012 a0001c0003t0003g0013 a0001c0003t0003g0014 a0001c0003t0003g0016 a0001c0003t0003g0017 a0001c0003t0003g0018 a0001c0003t0003g0019 a0001c0003t0003g0020 a0001c0003t0003g0021 a0001c0003t0003g0022 a0001c0003t0003g0023 a0001c0003t0003g0024 a0001c0003t0003g0025 a0001c0003t0003g0026 a0001c0003t0003g0027 a0001c0003t0003g0028 a0001c0003t0003g0029 a0001c0003t0003g0030 a0001c0003t0003g0031 a0001c0003t0003g0038 a0002c0004t0004g0005 a0002c0004t0004g0007 a0002c0004t0004g0269 a0003c0005t0001g0006 a0003c0005t0001g0267 a0004c0006t0012g0109 a0005c0007t0003g0232	225	300	0.7500	-312	c.102 others(19): Show c.1021-2150_1021-1839del	PRIM2	ENSG00000146143.19	transcript	ENST00000615550.5	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
PRSS38_chr1_227810675_227851470	227836392	TAATAAAA others(305): Show TAATAAAAGCTTCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAATAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(335): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0012 a0013 a0015 a0017 a0018 a0019 a0020 a0021	a0001c0001 a0001c0005 a0001c0007 others(24): Show a0001c0001 a0001c0005 a0001c0007 a0001c0012 a0001c0016 a0001c0017 a0001c0026 a0001c0027 a0002c0002 a0003c0003 a0003c0011 a0003c0032 a0004c0004 a0005c0006 a0006c0008 a0007c0009 a0009c0013 a0010c0015 a0011c0014 a0012c0018 a0013c0020 a0015c0023 a0017c0025 a0018c0029 a0019c0030 a0020c0031 a0021c0019	a0001c0001t0001 a0001c0001t0002 a0001c0005t0002 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0002 a0001c0007t0001 a0001c0012t0001 a0001c0016t0001 a0001c0017t0001 a0001c0026t0001 a0001c0027t0001 a0002c0002t0001 a0003c0003t0001 a0003c0011t0001 a0003c0032t0001 a0004c0004t0001 a0005c0006t0001 a0006c0008t0001 a0006c0008t0003 a0007c0009t0001 a0009c0013t0001 a0010c0015t0001 a0011c0014t0001 a0012c0018t0001 a0013c0020t0001 a0015c0023t0001 a0017c0025t0001 a0018c0029t0001 a0019c0030t0001 a0020c0031t0001 a0021c0019t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 others(201): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0083 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0194 a0001c0001t0001g0219 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0032 a0001c0001t0002g0081 a0001c0001t0002g0088 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0222 a0001c0005t0002g0011 a0001c0005t0002g0021 a0001c0005t0002g0078 a0001c0005t0002g0079 a0001c0005t0002g0080 a0001c0005t0002g0090 a0001c0005t0002g0091 a0001c0007t0001g0013 a0001c0007t0001g0052 a0001c0007t0001g0174 a0001c0007t0001g0183 a0001c0007t0001g0186 a0001c0007t0001g0190 a0001c0012t0001g0016 a0001c0016t0001g0027 a0001c0017t0001g0191 a0001c0017t0001g0192 a0001c0026t0001g0149 a0001c0027t0001g0051 a0002c0002t0001g0033 a0002c0002t0001g0056 a0002c0002t0001g0073 a0002c0002t0001g0086 a0002c0002t0001g0187 a0002c0002t0001g0193 a0002c0002t0001g0216 a0003c0003t0001g0001 a0003c0003t0001g0010 a0003c0003t0001g0054 a0003c0003t0001g0055 a0003c0003t0001g0195 a0003c0003t0001g0196 a0003c0003t0001g0197 a0003c0003t0001g0198 a0003c0003t0001g0199 a0003c0003t0001g0200 a0003c0003t0001g0201 a0003c0003t0001g0204 a0003c0003t0001g0205 a0003c0003t0001g0207 a0003c0003t0001g0210 a0003c0003t0001g0211 a0003c0003t0001g0212 a0003c0003t0001g0213 a0003c0003t0001g0215 a0003c0003t0001g0217 a0003c0003t0001g0218 a0003c0003t0001g0220 a0003c0003t0001g0221 a0003c0003t0001g0223 a0003c0003t0001g0226 a0003c0011t0001g0028 a0003c0011t0001g0202 a0003c0011t0001g0214 a0003c0032t0001g0208 a0004c0004t0001g0003 a0004c0004t0001g0014 a0004c0004t0001g0031 a0004c0004t0001g0066 a0004c0004t0001g0075 a0004c0004t0001g0082 a0004c0004t0001g0084 a0004c0004t0001g0085 a0004c0004t0001g0087 a0005c0006t0001g0020 a0005c0006t0001g0030 a0005c0006t0001g0067 a0005c0006t0001g0068 a0005c0006t0001g0071 a0005c0006t0001g0072 a0005c0006t0001g0077 a0006c0008t0001g0043 a0006c0008t0001g0135 a0006c0008t0001g0136 a0006c0008t0001g0138 a0006c0008t0001g0139 a0006c0008t0003g0137 a0006c0008t0003g0140 a0007c0009t0001g0023 a0007c0009t0001g0034 a0007c0009t0001g0108 a0007c0009t0001g0109 a0009c0013t0001g0064 a0009c0013t0001g0257 a0009c0013t0001g0258 a0010c0015t0001g0025 a0011c0014t0001g0012 a0011c0014t0001g0178 a0011c0014t0001g0182 a0012c0018t0001g0069 a0013c0020t0001g0203 a0015c0023t0001g0023 a0017c0025t0001g0009 a0018c0029t0001g0209 a0019c0030t0001g0206 a0020c0031t0001g0001 a0021c0019t0001g0152	338	450	0.7511	-312	c.584 others(17): Show c.584-9064_584-8753del	PRSS38	ENSG00000185888.6	transcript	ENST00000366757.4	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTBP2_chr1_96716784_96820049	96762265	GTGGCCGG others(305): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACTCCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACC TCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCT CCCGGATGGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCTGGGGGCTGACCCCCGCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCTGGGGGCTGACCCCCCGACCTCCTTCC CGGACGGGGCGGC	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA19240.hp1 HG03209.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0002 a0001c0002t0005g0002	2	364	0.0055	-312	c.116 others(17): Show c.116-7376_116-7065del	PTBP2	ENSG00000117569.20	transcript	ENST00000674951.1	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PXMP2_chr12_132682587_132709985	132688318	ACGGGTGA others(305): Show ACGGGTGAAGACAGGGCCAGGGGAGCGGGTCCTCATGGAGCGTGTGGAGA CAGGGCCAAGGGAGCGAGTCTGCGGGGCGCGGGTGAAGACAGCGCCAGGG GAGCGGGTCTTGGGGGCGCGGGTAAAGACAGGGCCAGGGGAGCGGGTCCT CATGGCGCGGGTGGAGACAGGGCCAAGGGAGCGGGTCTGCGGGGCGCGGG TGAAGACAGGGCCAAGGGAGCGGGTCTGCGGGGCGCGGGTGAAGACAGGG CGAGGGGAGCGGGTCTGCGGGGCACGGGTAAAGACAGGGCCAAGGGAGCG GGTCTGCGTGGTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG00642.hp1 others(92): Show HG00140.hp2 HG00438.hp1 HG00642.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01934.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02055.hp2 HG02056.hp2 HG02129.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02293.hp1 HG02615.hp2 HG02683.hp1 HG02698.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03540.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18906.hp1 NA18939.hp2 NA18952.hp1 NA18954.hp1 NA18957.hp1 NA18959.hp1 NA18962.hp2 NA18966.hp1 NA18969.hp2 NA18979.hp2 NA18989.hp2 NA18993.hp1 NA18998.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19067.hp2 NA19080.hp2 NA19084.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20752.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0002 a0001c0005 a0003c0009 others(1): Show a0001c0002 a0001c0005 a0003c0009 a0004c0006	a0001c0002t0002 a0001c0002t0006 a0001c0005t0005 others(2): Show a0001c0002t0002 a0001c0002t0006 a0001c0005t0005 a0003c0009t0002 a0004c0006t0002	a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0006 others(39): Show a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0009 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0161 a0001c0002t0002g0162 a0001c0002t0006g0002 a0001c0005t0005g0070 a0001c0005t0005g0071 a0003c0009t0002g0062 a0004c0006t0002g0051	95	350	0.2714	-312	c.122 others(15): Show c.122+557_122+868del	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
PXMP2_chr12_132682587_132709985	132688903	ACGGGTGA others(305): Show ACGGGTGAAGACAGGGCCAGGGGAGCGGGTCCTCATGGAGCGTGTGGAGA CAGGGCCAAGGGAGCGAGTCTGCGGGGCGCGGGTGAAGACAGCGCCAGGG GAGCGGGTCTTGGGGGCGCGGGTAAAGACAGGGCCAGGGGAGCGGGTCCT CATGGCGCGGGTGGAGACAGGGCCAAGGGAGCGGGTCTGCGGGGCGCGGG TGAAGACAGGGCCAAGGGAGCGGGTCTGCGGGGCGCGGGTGAAGACAGGG CGAGGGGAGCGGGTCTGCGGGGCACGGGTAAAGACAGGGCCAAGGGAGCG GGTCTGCGTGGTG	A A	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	350	0.0029	-312	c.122 others(17): Show c.122+1143_123-1017del	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
RAD21L1_chr20_1221044_1260876	1258659	TTCCCTCT others(305): Show TTCCCTCTTTTCTAATACAAACACATAAAGCTCTGTTTCCTTCTAGGTAA CTGATTTGGGATCTTCCCTCTTTTCTAATATAAACACATAAAGCTCTGTT TCCTTCTAGGTAACTGGTTTGAGATCTTCCCTCTTTTCTAATATAAACAC ATAAAGCTCTGCTTCTTGGTAACTGATTTGGTATCTTCCCTCTTTTCTAA TATAAACACATAAAGCTCTTGTTTCCTTCTTGGTAACTGGTTTGAGATCT TCCCTCTTTTATAATATAAACACATAAAGCTCTGTTTCCTTCTAGGTAAC TGATTTGGGATCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	364	0.0028	-312	c.42 others(11): Show c.4203_*4514del	RAD21L1	ENSG00000244588.6	transcript	ENST00000683101.1	protein_coding		2784		chr20	TogoVar
RIMBP2_chr12_130391133_130721299	130646142	ACCACCTG others(305): Show ACCACCTGCCTCTCCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCAC CACTTCCCTCTCCACCTCCCTCTCCACCTCCCTCACCACCTGCCTCTCCA CCTCCCTCACCACTTCCCTCTCCACCTGCCTCACCACCTCCCTCACCACC TGCCTCTCCACCTCCCTCACCACTTCCCTCTCCACCTGCCTCACCACCTC CCTCACCACCTCCCTCACCACCTCCCTCACCACCTCCCTCACCACCTCCC TCACCACCTGCCTCTCCACCTCCCTCACCACTTCCCTCTCCACCTCCCTT GCCACCTCCCTCG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02129.hp1 HG03834.hp2 others(1): Show HG00741.hp2 HG02129.hp1 HG03834.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0004t0001	a0001c0001t0001g0113 a0001c0001t0002g0037 a0001c0002t0002g0034 others(1): Show a0001c0001t0001g0113 a0001c0001t0002g0037 a0001c0002t0002g0034 a0001c0004t0001g0112	4	180	0.0222	-312	c.-35 others(21): Show c.-351-17998_-351-17687del	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RORA_chr15_60483284_61234302	60816082	GTATACTG others(305): Show GTATACTGTAAACAGTATATGTATTTATATACTGTAAACAGTATATGTAT TTATATACTGTAAACAGTATATGTATTTATATACTGTAAACAGTATATGT ATTTATATACTGTAAACAGTATATGTATTTATATACTGTAAACAGTATAT GTATTTATATACTGTAAACAGTATATGTATTTATATACTGTAAACAGTAT ATGTATTTATATACTGTAAACAGTATATGTATTTATATACTGTAAACAGT ATATGTATTTATATACTGTAAACAGTATATGTATTTATATACTGTAAACA GTATATGTATTTA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0103 a0001c0001t0024g0103	1	118	0.0085	-312	c.167 others(21): Show c.167-137708_167-137397del	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RPN2_chr20_37174330_37246619	37187206	TAAGATCA others(305): Show TAAGATCAATCATTTGGCGGGGCGCGGTGGCTCAAGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACACCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(207): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02135.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02970.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18942.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18966.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18986.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18992.hp1 NA18995.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19075.hp2 NA19076.hp1 NA19078.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19083.hp1 NA19085.hp2 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0001c0004 a0002c0003 others(6): Show a0001c0001 a0001c0004 a0002c0003 a0003c0006 a0005c0007 a0006c0005 a0007c0009 a0008c0010 a0009c0011	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0002c0003t0001 a0003c0006t0001 a0005c0007t0001 a0006c0005t0001 a0007c0009t0001 a0008c0010t0001 a0009c0011t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(169): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0096 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0002g0242 a0001c0004t0001g0004 a0001c0004t0001g0166 a0001c0004t0001g0186 a0002c0003t0001g0132 a0002c0003t0001g0133 a0002c0003t0001g0135 a0002c0003t0001g0137 a0003c0006t0001g0026 a0005c0007t0001g0207 a0005c0007t0001g0208 a0006c0005t0001g0235 a0006c0005t0001g0236 a0007c0009t0001g0243 a0008c0010t0001g0124 a0009c0011t0001g0189	210	346	0.6069	-312	c.207 others(17): Show c.207+2848_207+3159del	RPN2	ENSG00000118705.18	transcript	ENST00000237530.11	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
S1PR4_chr19_3173769_3185332	3177664	AGGCTCTC others(305): Show AGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGG GCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTC CCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAA CGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCT CTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTC AGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTT CTGCAACGCATCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	418	0.0024	-312	c.-11 others(10): Show c.-1128_-817del	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		1104		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3177778	ATCGGGCT others(305): Show ATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTC TGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGT TTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTG CAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGG GCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGC CTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCC CTTCTGCAACGCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	418	0.0024	-312	c.-10 others(10): Show c.-1014_-703del	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		990		chr19	TogoVar
SMOC2_chr6_168436184_168672992	168560598	GCCCTGAG others(305): Show GCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC ATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCAT TTTCCTGCCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTC ATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTG TCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGG TGTCATTTTCATA	G G	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	180	0.0056	-312	c.637 others(19): Show c.637+11473_637+11784del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560676	ATTCTTGG others(305): Show ATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACT GCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCA CTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCT CACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCT CTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGG CTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGA GGCTCTCACTGCG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02922.hp2 HG00609.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0080 a0001c0002t0002g0037 a0001c0001t0001g0080 a0001c0002t0002g0037	2	180	0.0111	-312	c.637 others(19): Show c.637+11497_637+11808del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561898	GCCCTGAG others(305): Show GCCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC ATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCATACCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCAT TTTCCTGCCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTC ATTTTCATACCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTG TCATTTTCCTGCCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGG TGTCATTTTCATA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0036 a0001c0002t0002g0036	1	180	0.0056	-312	c.637 others(19): Show c.637+12707_637+13018del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561929	TGGAGGAG others(305): Show TGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCATT CTTGGAGGAGGTGTCATTTTCATACCCTGAGACACAAGGCTCTCACTGCA TTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCACTG CATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCAC TGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTC ACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTC TCACTGTGTTCTC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG01243.hp2 others(8): Show HG00423.hp1 HG00558.hp1 HG01243.hp2 HG02559.hp2 HG02602.hp1 HG03139.hp1 HG03492.hp1 HG04228.hp1 NA18906.hp2 NA19030.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 a0001c0004t0005	a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0081 others(8): Show a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0098 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0121 a0001c0001t0006g0160 a0001c0002t0002g0001 a0001c0002t0002g0022 a0001c0004t0005g0049	11	180	0.0611	-312	c.637 others(19): Show c.637+12745_637+13056del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168614346	GACCTCTT others(305): Show GACCTCTTCATACCTACAGCCAGCACAGGGCCTCTTCATACCTACAGCCA GCACAGGGCCTCTTTATACCTACAGCCAGCACAGGGCCTCTTCACACCTA CAGCCAGCACATGGAGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTT CACACCTACAGCCAGCACAGGGCCTCTTCACACCTACAGCCAGCACAGGG CCTCTTCATACCTACAGCCAGCACAGGGGGCCTCTTCACACCTACAGCCA GCACAGGGGGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCACACC TACAGCCAGCACA	G G	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	180	0.0056	-312	c.907 others(17): Show c.907+6108_907+6419del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12			chr6	TogoVar
SMOC2_chr6_168436184_168672992	168615086	GGCCTCTT others(305): Show GGCCTCTTCACACCTACAGCCAGCACAGGGGGCCTCTTTACATCTACAGC CAGCACAGGGGGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCACA CCTACAGCCAGCACAGGGCCTCTTTATACCTACAGCCAGCACGGGGCCTC TTCACACCTACAGCCAGCACGGGGCCTTTTCACACCTACAGCCAGCATGG GGCCTCTTCACACCTACAGCCAGCACGGGGCCTCTTCACACCTACAGCCA GCACAGGGCCTCTTCACACCTACAGCCAGCACAGGGGGCCTCTTCACACC TACAGCCAGCACA	G G	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0011 a0001c0002t0002g0011	1	180	0.0056	-312	c.907 others(17): Show c.907+6849_907+7160del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMYD3_chr1_245744347_246512279	245974465	TAAAGCCA others(305): Show TAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCA TCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATC GTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGT CTCCGGCCCAGGG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01496.hp2 HG01934.hp2 others(6): Show HG01109.hp2 HG01496.hp2 HG01934.hp2 HG02056.hp2 HG02071.hp2 HG02132.hp2 NA18971.hp1 NA19057.hp2 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0012 others(2): Show a0001c0001 a0001c0002 a0001c0012 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0012t0002 a0002c0003t0001 a0002c0004t0001	a0001c0001t0001g0055 a0001c0001t0002g0004 a0001c0001t0002g0081 others(6): Show a0001c0001t0001g0055 a0001c0001t0002g0004 a0001c0001t0002g0081 a0001c0001t0002g0087 a0001c0002t0002g0010 a0001c0002t0002g0070 a0001c0012t0002g0074 a0002c0003t0001g0099 a0002c0004t0001g0098	9	150	0.0600	-312	c.532 others(19): Show c.532-44840_532-44529del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245974701	CAGGGAAA others(305): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGC CATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTGGCCTAGGGAAAGCCA TCGTCTCTAGCCT	C C	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	150	0.0067	-312	c.532 others(19): Show c.532-45076_532-44765del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar

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Search Results (Total: 10000 hits)