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
FOXN3_chr14_89151177_89422233	89361361	CACCACCT others(234): Show CACCACCTCCAGCACCACCTCCACCACCACCACCTCCAGCACCACCTCCA CCACCACCACCTCCACCACCACCTCCTACCACTACCACCTCCAGCACCAC CTCCACCACCACCACCTCCAGCACCACCTCCACCACCACCTCCACCACTA CCACCTCCACCACCACCTCCACCACCACCACCTCCAGCACCACCTCCACC ACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACT	C C	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	230	0.0044	-241	c.544 others(19): Show c.544-10794_544-10554del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
GALNT9_chr12_132191372_132334589	132212405	GGAAACCC others(234): Show GGAAACCCCACCCGGGTCTGCAGCCCTCAGACCTCGACACGGAAACCCCA CCCGGGTCTGCAGCCCTCAGACCTCGACACGGAAACCCCACCCGGGTCTG CAGCCCTCAGACCTCGACACGGAAACCCCACCCGGGTCTGCAGCCCTCAG ACCTCGACACGGAAACCCCACCCGGGTCTGCAGCCCTCAGACCTCGACAC GGAAACCCCACCCGGGTCTAGCAGCCCTCAGACCTCGACACA	G G	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0097 a0001c0006t0001g0097	1	183	0.0055	-241	c.107 others(19): Show c.1078-8956_1078-8716del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132212559	CGACACGG others(234): Show CGACACGGAAACCCCACCCGGGTCTGCAGCCCTCAGACCTCGACACGGAA ACCCCACCCGGGTCTAGCAGCCCTCAGACCTCGACACAGAAACCCCACCC GGGTCTGCAGCCCTCAGACCTCGACACGGAAACCCCACCCGGGTCTGCAG CCCTCAGACCTCGACACGGAAACCCCACCCGGGTCTGCAGCCCTCAGACC GTGACATGGAAACCCCACCCGGGTCTGCAGCCCTCAGACCGT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(97): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00609.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG01070.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02615.hp1 HG02615.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02965.hp2 HG03017.hp2 HG03041.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp2 HG03492.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03834.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18961.hp1 NA18962.hp2 NA18964.hp2 NA18971.hp2 NA18980.hp1 NA18980.hp2 NA18999.hp1 NA19002.hp1 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19012.hp1 NA19063.hp1 NA19067.hp1 NA19067.hp2 NA19070.hp2 NA19080.hp2 NA19085.hp1 NA19091.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(21): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0001c0012 a0001c0013 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0001c0019 a0001c0020 a0001c0022 a0001c0028 a0001c0030 a0001c0034 a0001c0035 a0001c0038 a0001c0039 a0001c0040	a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 others(24): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 a0001c0002t0001 a0001c0002t0013 a0001c0003t0001 a0001c0004t0001 a0001c0006t0001 a0001c0007t0010 a0001c0008t0002 a0001c0011t0001 a0001c0012t0002 a0001c0013t0004 a0001c0015t0001 a0001c0016t0001 a0001c0017t0001 a0001c0018t0001 a0001c0019t0003 a0001c0020t0001 a0001c0022t0001 a0001c0028t0001 a0001c0030t0001 a0001c0034t0004 a0001c0035t0009 a0001c0038t0001 a0001c0039t0006 a0001c0040t0007	a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0023 others(97): Show a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0051 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0111 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0001g0156 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0008g0003 a0001c0001t0011g0050 a0001c0002t0001g0004 a0001c0002t0001g0022 a0001c0002t0001g0034 a0001c0002t0001g0053 a0001c0002t0001g0058 a0001c0002t0001g0063 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0105 a0001c0002t0001g0130 a0001c0002t0001g0134 a0001c0002t0001g0141 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0163 a0001c0002t0013g0021 a0001c0003t0001g0006 a0001c0003t0001g0007 a0001c0003t0001g0030 a0001c0004t0001g0016 a0001c0006t0001g0013 a0001c0006t0001g0073 a0001c0006t0001g0078 a0001c0006t0001g0142 a0001c0007t0010g0108 a0001c0008t0002g0170 a0001c0008t0002g0171 a0001c0008t0002g0172 a0001c0008t0002g0173 a0001c0008t0002g0176 a0001c0008t0002g0182 a0001c0011t0001g0057 a0001c0011t0001g0065 a0001c0011t0001g0129 a0001c0012t0002g0179 a0001c0012t0002g0180 a0001c0012t0002g0181 a0001c0012t0002g0183 a0001c0013t0004g0095 a0001c0013t0004g0124 a0001c0015t0001g0024 a0001c0016t0001g0054 a0001c0016t0001g0147 a0001c0017t0001g0049 a0001c0017t0001g0148 a0001c0018t0001g0039 a0001c0019t0003g0077 a0001c0020t0001g0115 a0001c0022t0001g0120 a0001c0028t0001g0144 a0001c0030t0001g0110 a0001c0034t0004g0158 a0001c0035t0009g0140 a0001c0038t0001g0046 a0001c0039t0006g0001 a0001c0040t0007g0002	100	183	0.5465	-241	c.107 others(19): Show c.1078-9110_1078-8870del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132230989	TGACAGAG others(234): Show TGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCG ACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGAC AGAGGAGACAGCGTGGAGCCCCTACTGCCACACACTCCATGGGGCGACAG AGGAGACAGCGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAG GAGACAGCGTGGAGTCCCCTACTGCCACACACTCGATGGGGC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02976.hp1 HG03453.hp1 others(1): Show HG02109.hp1 HG02976.hp1 HG03453.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0019 others(1): Show a0001c0001 a0001c0014 a0001c0019 a0001c0029	a0001c0001t0001 a0001c0014t0003 a0001c0019t0003 others(1): Show a0001c0001t0001 a0001c0014t0003 a0001c0019t0003 a0001c0029t0003	a0001c0001t0001g0150 a0001c0014t0003g0074 a0001c0019t0003g0145 others(1): Show a0001c0001t0001g0150 a0001c0014t0003g0074 a0001c0019t0003g0145 a0001c0029t0003g0107	4	183	0.0219	-241	c.107 others(21): Show c.1077+16680_1077+16920del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GRK5_chr10_119202571_119464745	119394376	CGGTGTGT others(234): Show CGGTGTGTGTATCTGTGTCTGTGTGTGGGCATGTGTGTGGGGGTGTGTGG GTACGTGTATGGGTGTGTGTATCTGCTTAGTGGGCACGTGTGTGGATGTG TGTGGGTGTGTGTATCTGCGTGTCTGTGGGCACGTGTGTGTGGGTGTGTG TGGGTGTGTATCTGTGTGTGGGGGCACGTGTATGTTTGGGTGTGTGTGTG TCTGTGTGTGGGTGTGTGTCTGTGTGTGGGCACGTGTATGTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG00741.hp1 others(26): Show HG00140.hp1 HG00639.hp1 HG00741.hp1 HG01071.hp1 HG01516.hp2 HG02027.hp1 HG02040.hp1 HG02132.hp1 HG02155.hp2 HG02165.hp1 HG02280.hp1 HG02895.hp2 HG02897.hp1 HG03017.hp2 HG03098.hp2 HG03471.hp1 HG04184.hp2 HG06807.hp1 NA18942.hp2 NA18943.hp2 NA18960.hp1 NA18971.hp2 NA18985.hp2 NA18995.hp1 NA19030.hp2 NA19065.hp2 NA19082.hp1 NA19088.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0005 a0002c0011 others(1): Show a0001c0001 a0002c0005 a0002c0011 a0003c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(19): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0026 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0041 a0001c0001t0045 a0001c0001t0048 a0001c0001t0074 a0002c0005t0016 a0002c0011t0046 a0003c0002t0003 a0003c0002t0031 a0003c0002t0054 a0003c0002t0055 a0003c0002t0056 a0003c0002t0059 a0003c0002t0061 a0003c0002t0062 a0003c0002t0079	a0001c0001t0001g0001 a0001c0001t0001g0031 a0001c0001t0004g0004 others(26): Show a0001c0001t0001g0001 a0001c0001t0001g0031 a0001c0001t0004g0004 a0001c0001t0004g0076 a0001c0001t0006g0085 a0001c0001t0026g0114 a0001c0001t0036g0028 a0001c0001t0038g0070 a0001c0001t0039g0151 a0001c0001t0041g0049 a0001c0001t0045g0180 a0001c0001t0048g0005 a0001c0001t0074g0144 a0002c0005t0016g0014 a0002c0011t0046g0102 a0003c0002t0003g0002 a0003c0002t0003g0011 a0003c0002t0003g0034 a0003c0002t0003g0078 a0003c0002t0003g0089 a0003c0002t0003g0198 a0003c0002t0031g0003 a0003c0002t0054g0048 a0003c0002t0055g0174 a0003c0002t0056g0087 a0003c0002t0059g0096 a0003c0002t0061g0197 a0003c0002t0062g0099 a0003c0002t0079g0157	29	202	0.1436	-241	c.262 others(17): Show c.262-2318_262-2078del	GRK5	ENSG00000198873.12	transcript	ENST00000392870.3	protein_coding	3/15			chr10	TogoVar
IL3RA_chrX_1331785_1387689	1366524	CCGGTGAG others(234): Show CCGGTGAGCCGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCCGGGT GAGCGGGGTGAGCGGGGTGCGCGGTGCGCGGGGTGAGCGGGGTGCGCGGG GTGAGCCGGGTGCGCGGGGTGAGCGGGGTGAGCCGGGTGCCCCGGGTGAG CGGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGCGCGGAG TGAGCGGGGTGCGCGGGGTGCGCGGCGTGAGCCGGGTGCGCG	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	115	0.0087	-241	c.874 others(17): Show c.874+1273_874+1513del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11			chrX	TogoVar
JAKMIP3_chr10_132060946_132189858	132161615	TGTGATGC others(234): Show TGTGATGCTGGGGGGTGTCTCTCCCTGTGTGATGCTGGGGGGTATCTCTC CCTGTGTGATGCTGGGGGGTATCTCTCCCTGTGTGATGCTGGGGGGTATC TCTCCCTGTGTGATGCTGGGGGGTATCTCTCCCTGTGTGATGCTGGGGGG TGTCTCTCCCTGTGTGATGCTGGGGGGTGTCTCTCCCTGTGTGATGCTGG GGGGGGCCTCTTCTTGGGTGAAGCTAGGGGGTCTTTTCTTGG	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0149 a0001c0006t0003g0149	1	158	0.0063	-241	c.222 others(19): Show c.2221-1579_2221-1339del	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAP3K15_chrX_19355059_19520508	19452140	GAAGAGAA others(234): Show GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAAGAGAAGAGAAGAGAAGAGAAGAGAGAAA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02723.hp1 HG01106.hp1 HG02723.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0002 a0002c0002t0003	a0002c0002t0002g0149 a0002c0002t0003g0150 a0002c0002t0002g0149 a0002c0002t0003g0150	2	163	0.0123	-241	c.995 others(17): Show c.995+4532_995+4772del	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28			chrX	TogoVar
MELTF_chr3_196996740_197034817	197032876	GGTGTGAG others(234): Show GGTGTGAGCACCTGAAGTAGTGTGATGTCAGAAGATTTTACACTCTTGCT GACTGGTTGGGGTGTGAGCACCTGCAGTAGTGTGATGTCAGAGGATGTTA CCTCTCTTGCTGACTGGTTGGGGTGTGAGCACCTGCAGTCGTGTGATGTC AGAAGATTTTACACTCTTGCTGACTGGTTGGGGTGTGAGCACCTGCAGTA GTGTGATGTCAGAGGATGTTACACTCTTGCTGACTGGTTACT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01123.hp2 HG01074.hp1 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0179 a0001c0001t0002g0002 a0001c0001t0002g0179	2	420	0.0048	-241	c.-34 others(11): Show c.-3415_-3175del	MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding		3060		chr3	TogoVar
MLPH_chr2_237482251_237560322	237544975	GGGGGACA others(234): Show GGGGGACAGTGGTGAATGGGGACAGTAGTGAGTGGGGGACCGTGGTGAGT GGGGGCACAGTGGTGAGTGGGGACAGTGGGTGGAGGGGGCACTATTGGTA GGGGGGACAATTATTGGGGGGGGGCACTAATTGTGAGGGGGGACCAGTGT TGAGTGGGGGAATAGTTATGAGTGGGGACAGTGGTGAGTGGGGGGACAGT GGTGAGTGGAGGGCACAGTGGTGAGTGGGGACAGTGGTGAGT	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02922.hp2 HG03225.hp1 others(2): Show HG01496.hp2 HG02922.hp2 HG03225.hp1 HG03540.hp1 NA19240.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0002 a0008c0009t0002	a0008c0009t0002g0007 a0008c0009t0002g0102 a0008c0009t0002g0113 others(2): Show a0008c0009t0002g0007 a0008c0009t0002g0102 a0008c0009t0002g0113 a0008c0009t0002g0121 a0008c0009t0002g0122	5	286	0.0175	-241	c.154 others(19): Show c.1540-1616_1540-1376del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYOM2_chr8_2040046_2150456	2085560	CTGCGTGG others(234): Show CTGCGTGGCCCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCGTGATCT CTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTG ATCTCTGCGTGGCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTCG TGATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACA GTCGTGATCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02630.hp2 HG02647.hp2 others(2): Show HG01891.hp1 HG02630.hp2 HG02647.hp2 HG02896.hp1 HG06807.hp2	a0001 a0002 a0081 a0001 a0002 a0081	a0001c0038 a0002c0098 a0002c0121 others(2): Show a0001c0038 a0002c0098 a0002c0121 a0002c0123 a0081c0119	a0001c0038t0001 a0002c0098t0001 a0002c0121t0006 others(2): Show a0001c0038t0001 a0002c0098t0001 a0002c0121t0006 a0002c0123t0001 a0081c0119t0001	a0001c0038t0001g0077 a0002c0098t0001g0208 a0002c0121t0006g0075 others(2): Show a0001c0038t0001g0077 a0002c0098t0001g0208 a0002c0121t0006g0075 a0002c0123t0001g0192 a0081c0119t0001g0343	5	403	0.0124	-241	c.164 others(17): Show c.1644+173_1644+413del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYT1_chr20_64159452_64247253	64174583	CCTGTAGC others(234): Show CCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCTTCT CCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCA GCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTT	C C	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0017 a0001c0001t0014g0017	1	223	0.0045	-241	c.-99 others(18): Show c.-99+9847_-99+10087del	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64175583	CCTGTAGC others(234): Show CCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCTTCT CCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCA GCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA18906.hp2 HG02280.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0171 a0001c0001t0003g0172	2	223	0.0090	-241	c.-99 others(19): Show c.-99+10847_-99+11087del	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NLRP4_chr19_55831540_55886855	55851372	AGGCTGCG others(234): Show AGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATTTACGAGGCTGCGGT GTAATTTACGAGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCG AGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCGTGGCTGCGGT GTAATTTACCGAGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCC GAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0398 a0002c0003t0008g0398	1	424	0.0024	-241	c.-65 others(15): Show c.-65-609_-65-369del	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
PLCXD1_chrX_276381_308356	277956	GTGGGGAT others(234): Show GTGGGGATAGGAGGGGACACCCCTCAGTGGTCAGGGGACCTGGGATGTGA GGGGAGGGGTCAGGGGGAATGTGGGGACAGGTGTGGGGATAGGAGCGGAC ACCCCTCAGTGGTCAGGGGACCTGGGATGTGAGGGAGGGCTCAGGAGGAC ATGGGGACAGGTGTGGGGACAGGAGTGGACACCCCTCAGTGGTCAGGGGA CTTGGGATGTGAGGGGAGGGGTCGGGGGACGTGGGGACAGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0058 a0001c0003t0058	a0001c0003t0058g0103 a0001c0003t0058g0103	1	176	0.0057	-241	c.-37 others(11): Show c.-3749_-3509del	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		3424		chrX	TogoVar
PPP2R5C_chr14_101756709_101932977	101782402	CCTTCCCT others(234): Show CCTTCCCTCTCTCTCCCCCCCTTTCTCCCCATTCCCCTCCCTCTCTCCCC CTTCCCCTCCCTCTCTCCCCCTTCCGCTCCCTCTCCCCCTTCCCCTCCCT CTCTTTCCTCTTTCTCTCTCCCCCTCCCCCTCCCTCTCTCCTCCCTCTCT CTTTCTCCCCTTCCCTCTCTCTCCCCCCCTTTCTCCCCATTCCCCTCCCT CTCTCCCCCTTCCCCTCCCTCTCTCCCCCTTCCCCTCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	138	0.0073	-241	c.94- others(15): Show c.94-3614_94-3374del	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PRDM15_chr21_41793225_41884344	41806066	TCACCACC others(234): Show TCACCACCACCATCACCACCACCACCATCACCACCACCATCACCACCACC ACCACCACCATCACCACCACCATCACCACCACCACCACCATCACCATCAC CACCACCATCACCACCACCACCATCACCACCACCACCATCACCATCACCA TCACCATCACCACCATCACTACCACCATCACCACCACCACCATCACCACC ACCCATCACCACCACCACCATCACCATCACCACCACCATCAC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0144 a0001c0002t0002g0144	1	406	0.0025	-241	c.265 others(19): Show c.2653-1693_2653-1453del	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23			chr21	TogoVar
QKI_chr6_163409718_163583592	163489424	CTGTGTGT others(234): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTGTGTGTAAAAGTCAT TACTGTTATGAACACTGTTACCACCTTCAGTTTCCCAACTATTGTTTGTA GTGCGTTTTTTAATATTCTGACTGAAGCAGTTTATAAATAATGGTTAGAC TTACTTGAAATGGTACCATTACAACATGTCTTAAGGCACACTAATTGTAA TAACTTCTGGCTGGGCTTAAGAAACTACTTCTTAAATGTTTT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03471.hp2 HG03453.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0050 a0001c0001t0040 a0001c0001t0050	a0001c0001t0040g0220 a0001c0001t0050g0116 a0001c0001t0040g0220 a0001c0001t0050g0116	2	302	0.0066	-241	c.402 others(19): Show c.402+10530_402+10770del	QKI	ENSG00000112531.17	transcript	ENST00000361752.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
RAB6A_chr11_73670638_73766074	73722053	CATGATTG others(234): Show CATGATTGTAAGTTTCCTGAGGCCTCCCCAGCCATGTGGAACTTGAGTCT ATTAAACCTCTTTCCTTTATAAATTACCCAGTCTTGGGTTATCTCTTTAT TAGCAGCATGAGAACAAACTAATACATGTGTCTCCTTTAATTTCTCCCAG CAGTGTTTTGTATAGTCTTATGCTGTTTGTTAAATTTGTTCCTAAGTATT TTATTCTTTTCTGATGCTTCCGTAAATAAAATTCAAATATAT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	354	0.0028	-241	c.130 others(17): Show c.130-1395_130-1155del	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	2/7			chr11	TogoVar
SARDH_chr9_133658560_133743352	133668438	TCCCTTAC others(234): Show TCCCTTACCCTCCCTCTCCCTCGCCCTCCCTCTCCCCTCGCCCTCCCTCT CCCCTCACCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTC CCTCTCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCTCACCCTCC CTCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCCCTCCCTCTCCCTCAC CTTCCCTCTCCCCTACCCTCCCTCTCCCTCACCCTCCCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	262	0.0038	-241	c.249 others(19): Show c.2496-1809_2496-1569del	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SENP1_chr12_48037897_48111079	48056729	TATTTAAT others(234): Show TATTTAATATATTACATATTACATATATAAATATATTTAACATATTACAT ATTACATATATATTATTTAATATATTACATATTACATATATAAATATATT TAACATATTACATATTACATATATATTATTTAATATATTACATATTACAT ATATAATATATTATTTAATATATTACATATTACATATATAATATATTATT TAATATATTACATATTACATATATAATATATTATTTAATATA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp2 HG01516.hp1 others(4): Show HG00408.hp1 HG00597.hp2 HG01516.hp1 HG02083.hp2 HG02132.hp1 NA18940.hp1 NA18969.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0145 a0001c0002t0002g0154 a0001c0002t0002g0156 others(4): Show a0001c0002t0002g0145 a0001c0002t0002g0154 a0001c0002t0002g0156 a0001c0002t0002g0164 a0001c0002t0002g0183 a0001c0002t0002g0186 a0001c0002t0002g0191	7	394	0.0178	-241	c.140 others(19): Show c.1407+6740_1407+6980del	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	13/17			chr12	TogoVar
SENP1_chr12_48037897_48111079	48056767	AACATATT others(234): Show AACATATTACATATTACATATATATTATTTAATATATTACATATTACATA TATAAATATATTTAACATATTACATATTACATATATATTATTTAATATAT TACATATTACATATATAATATATTATTTAATATATTACATATTACATATA TAATATATTATTTAATATATTACATATTACATATATAATATATTATTTAA TATATTACATATTACATATATAAATATATTATTTAATATATT	A A	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA19084.hp2 NA18961.hp2 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0133 a0001c0002t0002g0168 a0001c0002t0002g0133 a0001c0002t0002g0168	2	394	0.0051	-241	c.140 others(19): Show c.1407+6702_1407+6942del	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	13/17			chr12	TogoVar
SLC12A7_chr5_1045384_1117063	1072315	CCCCCAGT others(234): Show CCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACTGGCATCACACTTATG CAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCA GTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCC CCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAG CCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAG	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0048 a0001c0006t0001g0048	1	118	0.0085	-241	c.224 others(19): Show c.2241+1077_2241+1317del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
TCF3_chr19_1604292_1657615	1628571	GGGCAGGA others(234): Show GGGCAGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGAC AGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGG GTGAGGCGGAAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGG GACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCAC AGGGGATGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGA	G G	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0070 a0002c0001t0070	a0002c0001t0070g0121 a0002c0001t0070g0121	1	352	0.0028	-241	c.299 others(17): Show c.299-1386_299-1146del	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TPPP_chr5_654862_698352	667833	CGGAGAGG others(234): Show CGGAGAGGGGTCCGCGTGGGCGCCGTCAGGGAAGTACCGACAAGCACACA GAGAGGGGGCCGTGTGGGCGCCGTCAGGGAAGTACCGACAAGCACACAGA GAGGGGGCCGTGTGGGCGCCGTCAGGGAAGTGCGGACAAGCACACAGAGA GGGGGCCGTGTGGGCGCCGTCAGGGAAGTACCGACAAGCACACAGAGAGG GGGCCGTGTGGGCGCCGTCAGGGAAGTACCGACAAGCACACT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00423.hp2 others(103): Show HG00140.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00738.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01256.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01952.hp1 HG01978.hp2 HG02004.hp1 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp2 HG02809.hp2 HG02818.hp1 HG02965.hp1 HG03239.hp1 HG03453.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG04204.hp1 NA18612.hp2 NA18747.hp1 NA18940.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18951.hp2 NA18954.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18979.hp1 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18990.hp1 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19056.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19068.hp1 NA19068.hp2 NA19083.hp1 NA19091.hp1 NA20129.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0012 a0002c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(26): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0029 a0001c0001t0034 a0001c0001t0038 a0001c0001t0042 a0001c0001t0045 a0001c0001t0050 a0001c0001t0054 a0001c0001t0069 a0001c0001t0071 a0001c0001t0072 a0001c0001t0075 a0001c0001t0089 a0001c0003t0030 a0001c0004t0001 a0001c0004t0002 a0001c0005t0002 a0001c0005t0003 a0001c0005t0035 a0001c0005t0049 a0001c0012t0002 a0002c0007t0007 a0002c0007t0086	a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0023 others(90): Show a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0023 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0100 a0001c0001t0002g0171 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0191 a0001c0001t0002g0211 a0001c0001t0002g0237 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0252 a0001c0001t0002g0258 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0272 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0291 a0001c0001t0002g0295 a0001c0001t0002g0299 a0001c0001t0002g0305 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0003g0227 a0001c0001t0005g0178 a0001c0001t0005g0179 a0001c0001t0005g0180 a0001c0001t0005g0185 a0001c0001t0005g0186 a0001c0001t0005g0187 a0001c0001t0005g0188 a0001c0001t0005g0189 a0001c0001t0005g0236 a0001c0001t0005g0301 a0001c0001t0005g0314 a0001c0001t0015g0141 a0001c0001t0015g0152 a0001c0001t0015g0153 a0001c0001t0015g0268 a0001c0001t0016g0173 a0001c0001t0016g0261 a0001c0001t0016g0273 a0001c0001t0016g0280 a0001c0001t0016g0292 a0001c0001t0020g0174 a0001c0001t0020g0175 a0001c0001t0020g0176 a0001c0001t0021g0005 a0001c0001t0029g0010 a0001c0001t0034g0293 a0001c0001t0034g0294 a0001c0001t0038g0045 a0001c0001t0042g0276 a0001c0001t0045g0232 a0001c0001t0050g0251 a0001c0001t0054g0290 a0001c0001t0069g0298 a0001c0001t0071g0217 a0001c0001t0072g0118 a0001c0001t0075g0264 a0001c0001t0089g0124 a0001c0003t0030g0156 a0001c0004t0001g0172 a0001c0004t0002g0279 a0001c0005t0002g0076 a0001c0005t0002g0083 a0001c0005t0002g0094 a0001c0005t0002g0110 a0001c0005t0002g0123 a0001c0005t0003g0080 a0001c0005t0035g0269 a0001c0005t0035g0271 a0001c0005t0049g0311 a0001c0012t0002g0159 a0002c0007t0007g0018 a0002c0007t0007g0161 a0002c0007t0007g0162 a0002c0007t0007g0164 a0002c0007t0007g0166 a0002c0007t0007g0167 a0002c0007t0007g0231 a0002c0007t0007g0332 a0002c0007t0086g0165	106	409	0.2592	-241	c.312 others(17): Show c.312-1951_312-1711del	TPPP	ENSG00000171368.12	transcript	ENST00000360578.7	protein_coding	2/3			chr5	TogoVar
TPPP_chr5_654862_698352	668144	CCGTCAGG others(234): Show CCGTCAGGGAAGTACCGACAAGCACACGGAGAGGGGTCCGCGTGGGCGCC GTCAGGGAAGTACCGACAAGCACACAGAGAGGGGGCCGTGTGGGCGCCGT CAGGGAAGTGCGGACAAGCACACGGAGAGGGGTCCGCGTGGGCGCCGTCA GGGAAGTACCGACAAGCACACAGAGAGGGGGCCGTGTGGGCGCCGTCAGG GAAGTGCGGACAAGCACACTGGAGAGGGGTCCGCGTGGGCCT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0040 a0001c0003t0040	a0001c0003t0040g0256 a0001c0003t0040g0256	1	409	0.0024	-241	c.312 others(17): Show c.312-2262_312-2022del	TPPP	ENSG00000171368.12	transcript	ENST00000360578.7	protein_coding	2/3			chr5	TogoVar
TRRAP_chr7_98873532_99018241	99018000	CGAGTAGC others(234): Show CGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGAT CTCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCATGCCCGGCCCGTCTTCTATAATTTCTTTAATGAA TGATTTACAGTTTTCAGTATACAAGTATTTGACTTTGTTGGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	262	0.0038	-241	c.56 others(11): Show c.5646_*5886del	TRRAP	ENSG00000196367.15	transcript	ENST00000456197.2	protein_coding		4760		chr7	TogoVar
VPS53_chr17_503668_719839	619142	TGCTAATA others(234): Show TGCTAATATTTCCCAGGTAGCTGGGACTACAGGTGCCCACGACGCCTGCT AATATTTCCCGGGTAGCTGGGACTACAGGTGCCCACGACGCCTGCTAATA TTTCCTGGGTAGCTAGGACTACACGTGTGCACCACCACACCTGCTAATAT TTTCCGGGTAGCTGGGACTACAGGCGCGCACCACCACGCCCCGCTAATAT TTCCCGGGTAGCTGGGACTACAGGCGCGCACCACCATGCCCC	T T	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0078 a0001c0002t0078	a0001c0002t0078g0041 a0001c0002t0078g0041	1	232	0.0043	-241	c.111 others(19): Show c.1116+4150_1116+4390del	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	11/21			chr17	TogoVar
ZNF584_chr19_58403649_58423327	58410539	ATATATAT others(234): Show ATATATATATATATATATATGTGTATATATATATGTATATATATGTATAT ATATGTATATATATGTATATATATGTGTATATATGTGTATATATGTGTAT ATATATGTGTATATATGTGTATATATGTATATATGTGTATATATATGTAT ATATGTATATATATATGTATATATGTGTATATATATATGTATATATATAT ATGTGTGTATATATATATATATATGTATATATATATATAATT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp1 HG02818.hp2 others(4): Show HG01884.hp2 HG02451.hp1 HG02818.hp2 HG02970.hp2 HG03209.hp1 HG03486.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0005 a0002c0002t0002 a0002c0002t0005	a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0005g0041 others(1): Show a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0005g0041 a0002c0002t0005g0287	7	426	0.0164	-241	c.169 others(15): Show c.169+450_169+690del	ZNF584	ENSG00000171574.19	transcript	ENST00000306910.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF584_chr19_58403649_58423327	58410543	ATATATAT others(234): Show ATATATATATATATATGTGTATATATATATGTATATATATGTATATATAT GTATATATATGTATATATATGTGTATATATGTGTATATATGTGTATATAT ATGTGTATATATGTGTATATATGTATATATGTGTATATATATGTATATAT GTATATATATATGTATATATGTGTATATATATATGTATATATATATATGT GTGTATATATATATATATATGTATATATATATATAATTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0252 a0003c0003t0004g0252	1	426	0.0024	-241	c.169 others(15): Show c.169+454_169+694del	ZNF584	ENSG00000171574.19	transcript	ENST00000306910.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF584_chr19_58403649_58423327	58410549	ATATATAT others(234): Show ATATATATATGTGTATATATATATGTATATATATGTATATATATGTATAT ATATGTATATATATGTGTATATATGTGTATATATGTGTATATATATGTGT ATATATGTGTATATATGTATATATGTGTATATATATGTATATATGTATAT ATATATGTATATATGTGTATATATATATGTATATATATATATGTGTGTAT ATATATATATATATGTATATATATATATAATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0242 a0003c0005t0004g0242	1	426	0.0024	-241	c.169 others(15): Show c.169+460_169+700del	ZNF584	ENSG00000171574.19	transcript	ENST00000306910.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZSWIM7_chr17_15971560_16004704	15979654	GCTGGGCG others(234): Show GCTGGGCGGAGGACTGACCCCCCCCACCTCCCTCCCGAATGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGC GCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02615.hp1 HG02647.hp1 others(1): Show HG02486.hp1 HG02615.hp1 HG02647.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0003 a0001c0001t0013	a0001c0001t0003g0024 a0001c0001t0003g0107 a0001c0001t0013g0106 a0001c0001t0003g0024 a0001c0001t0003g0107 a0001c0001t0013g0106	4	344	0.0116	-241	c.306 others(17): Show c.306+1145_306+1385del	ZSWIM7	ENSG00000214941.8	transcript	ENST00000399277.6	protein_coding	4/4			chr17	TogoVar
ABCA3_chr16_2270881_2345728	2297941	AGGGAGAT others(233): Show AGGGAGATGCAGGGCTCCTGGCGGGAGGCCGACCCTGGCCAGCGAGGTTC TGGTGAGAGGAACCTCTCCTTGACGTAGCTGGGGAGATGCAGGGCTCCTG GCGGGAGGCCGACCACGGCCAGCAAGGTTCTGGTGAGAGGAACCTCTCCT TGACGTAGCTGGGGAGATGCAGGGCTCCTGGCGGGAGGCCGACCACGGCC AGCGAGTTTCTGGTAAGAGGAACCTCTCCTTGACGTAGCTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp1 others(65): Show HG00099.hp1 HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00735.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01106.hp2 HG01109.hp2 HG01169.hp1 HG01255.hp2 HG01258.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG02132.hp1 HG02135.hp1 HG02148.hp2 HG02155.hp2 HG02258.hp2 HG02273.hp2 HG02300.hp1 HG02523.hp2 HG02698.hp2 HG02735.hp2 HG03017.hp1 HG03017.hp2 HG03239.hp1 HG03492.hp2 HG03654.hp2 HG03710.hp1 HG03927.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp2 NA18747.hp1 NA18942.hp1 NA18944.hp1 NA18946.hp2 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18964.hp2 NA18966.hp2 NA18978.hp1 NA19002.hp1 NA19004.hp1 NA19010.hp1 NA19057.hp2 NA19058.hp1 NA19070.hp1 NA19085.hp1 NA19088.hp1 NA20300.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0001c0011 a0001c0018 a0001c0028	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0002t0001 a0001c0002t0003 a0001c0002t0011 a0001c0005t0001 a0001c0008t0001 a0001c0011t0001 a0001c0018t0001 a0001c0028t0001	a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 others(64): Show a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0068 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0121 a0001c0001t0001g0133 a0001c0001t0001g0138 a0001c0001t0001g0183 a0001c0001t0001g0234 a0001c0001t0001g0242 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0015 a0001c0001t0003g0026 a0001c0001t0003g0029 a0001c0001t0003g0032 a0001c0001t0009g0085 a0001c0002t0001g0001 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0050 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0001g0077 a0001c0002t0001g0086 a0001c0002t0001g0102 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0131 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0156 a0001c0002t0001g0168 a0001c0002t0001g0182 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0003g0016 a0001c0002t0003g0019 a0001c0002t0003g0022 a0001c0002t0003g0023 a0001c0002t0003g0028 a0001c0002t0003g0031 a0001c0002t0011g0101 a0001c0005t0001g0042 a0001c0008t0001g0139 a0001c0008t0001g0173 a0001c0008t0001g0175 a0001c0011t0001g0135 a0001c0018t0001g0097 a0001c0028t0001g0134	68	252	0.2698	-240	c.189 others(16): Show c.1896+205_1897-21del	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	15/32			chr16	TogoVar
ADARB2_chr10_1172313_1742525	1237015	TGCCTCCC others(233): Show TGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTG CCTCCGGTGGTTAATTCCCTCTTGCCTCCGGTGGTTAACTCCCCCCTGCC TCCGGTTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTCTCCCTC CGGGTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTCTCCCTCCG GTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTG	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02080.hp1 HG01081.hp2 HG02080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0041 a0002c0002t0048 a0002c0002t0041 a0002c0002t0048	a0002c0002t0041g0074 a0002c0002t0048g0068 a0002c0002t0041g0074 a0002c0002t0048g0068	2	106	0.0189	-240	c.136 others(19): Show c.1362-3410_1362-3171del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1237016	GCCTCCCG others(233): Show GCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGC CTCCGGTGGTTAATTCCCTCTTGCCTCCGGTGGTTAACTCCCCCCTGCCT CCGGTTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTCTCCCTCC GGGTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTCTCCCTCCGG TGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGC	G G	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02897.hp2 NA19070.hp2 HG02027.hp1 HG02897.hp2 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0064 a0002c0002t0065 a0001c0001t0001 a0002c0002t0064 a0002c0002t0065	a0001c0001t0001g0069 a0002c0002t0064g0100 a0002c0002t0065g0086 a0001c0001t0001g0069 a0002c0002t0064g0100 a0002c0002t0065g0086	3	106	0.0283	-240	c.136 others(19): Show c.1362-3411_1362-3172del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1237064	GCCTCCGG others(233): Show GCCTCCGGTGGTTAATTCCCTCTTGCCTCCGGTGGTTAACTCCCCCCTGC CTCCGGTTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTCTCCCT CCGGGTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTCTCCCTCC GGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCCTCCCG GTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA18945.hp2 HG01884.hp1 NA18945.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0038 a0001c0001t0003 a0002c0002t0038	a0001c0001t0003g0102 a0002c0002t0038g0048 a0001c0001t0003g0102 a0002c0002t0038g0048	2	106	0.0189	-240	c.136 others(19): Show c.1362-3459_1362-3220del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
AFAP1L1_chr5_149266859_149348637	149327060	AAGCAGGA others(233): Show AAGCAGGAAAATGTGACCCATACAGAAGGAAAAAAATCAAGCAACAGAAA CTGCCTGAGAGAGGGCCCAAATGTAGAATTTAACAAAGATTTCAAAGCAG CCATTATAAATATATTTAAAGAACTTAAGGAAACCATGCTTAAAGAAATA AAGGAACAGAAGATGACAGTGTATTAACAGATAGTCTGTATTATTGATAG CCTATATTATTGGTAGTCTCTATCAATATATTATTGATAAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG00642.hp2 others(22): Show HG00438.hp2 HG00597.hp1 HG00642.hp2 HG01243.hp2 HG01346.hp1 HG02040.hp2 HG02280.hp2 HG02293.hp1 HG02559.hp2 HG02572.hp2 HG02630.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02965.hp1 HG02976.hp2 HG03540.hp2 HG03927.hp2 NA18522.hp2 NA18939.hp2 NA18961.hp1 NA18986.hp1 NA19058.hp1 NA19067.hp1 NA19088.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0002c0002t0003 a0002c0002t0007 a0004c0004t0022	a0001c0001t0001g0229 a0001c0001t0002g0231 a0001c0001t0003g0016 others(22): Show a0001c0001t0001g0229 a0001c0001t0002g0231 a0001c0001t0003g0016 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0062 a0001c0001t0003g0096 a0001c0001t0003g0123 a0001c0001t0003g0140 a0001c0001t0003g0203 a0001c0001t0003g0241 a0001c0001t0003g0273 a0001c0001t0009g0030 a0001c0001t0009g0031 a0001c0001t0009g0269 a0002c0002t0003g0008 a0002c0002t0003g0013 a0002c0002t0003g0014 a0002c0002t0003g0063 a0002c0002t0003g0171 a0002c0002t0003g0208 a0002c0002t0003g0221 a0002c0002t0007g0006 a0002c0002t0007g0007 a0004c0004t0022g0174	25	286	0.0874	-240	c.181 others(19): Show c.1811-2602_1811-2363del	AFAP1L1	ENSG00000157510.14	transcript	ENST00000296721.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
AGO2_chr8_140515156_140640633	140622648	CCACATGG others(233): Show CCACATGGGGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCTCTTG GGGGAATAATGCACATGGGGTCTCCTCTTGGGGGAATAATGCACATGGGG TCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCTCTTGGGGGAATAAT GCACATGGGGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCTCTTG GGGGAATAATGCACATGGGGTCTCCTCTTGGGGGAATAATG	C C	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02055.hp2 HG02109.hp1 others(10): Show HG01975.hp2 HG02055.hp2 HG02109.hp1 HG02451.hp1 HG02630.hp2 HG02717.hp1 HG02970.hp2 HG03139.hp1 HG03225.hp1 HG03471.hp1 HG03486.hp2 HG03579.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0007 others(1): Show a0001c0003 a0001c0005 a0001c0007 a0001c0017	a0001c0003t0006 a0001c0003t0030 a0001c0003t0059 others(4): Show a0001c0003t0006 a0001c0003t0030 a0001c0003t0059 a0001c0003t0137 a0001c0005t0007 a0001c0007t0104 a0001c0017t0006	a0001c0003t0006g0318 a0001c0003t0006g0319 a0001c0003t0006g0326 others(10): Show a0001c0003t0006g0318 a0001c0003t0006g0319 a0001c0003t0006g0326 a0001c0003t0006g0327 a0001c0003t0006g0328 a0001c0003t0030g0320 a0001c0003t0030g0330 a0001c0003t0059g0325 a0001c0003t0137g0323 a0001c0005t0007g0321 a0001c0005t0007g0329 a0001c0007t0104g0324 a0001c0017t0006g0322	13	338	0.0385	-240	c.22+ others(17): Show c.22+12597_22+12836del	AGO2	ENSG00000123908.12	transcript	ENST00000220592.10	protein_coding	1/18			chr8	TogoVar
AGO2_chr8_140515156_140640633	140623044	GGGGTCTC others(233): Show GGGGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCTCTTGGGGGAA TAATGCACATGGGGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCT CTTGGGGGAATAATCCACATGGGGTCTCCTCTTGGGGGAATAATGCACAT GGGGTCTCCTCTTGGGGTAATAATCCACATGGGGTCTCCTCTTGGGGGAA TAATGCACATGGGGTCTCCTCTTGGGGGAATAATGCACATA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG02015.hp1 others(1): Show HG01069.hp2 HG01071.hp1 HG02015.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0044 a0001c0002t0004 a0001c0003t0001 a0001c0001t0044 a0001c0002t0004 a0001c0003t0001	a0001c0001t0044g0144 a0001c0001t0044g0145 a0001c0002t0004g0224 others(1): Show a0001c0001t0044g0144 a0001c0001t0044g0145 a0001c0002t0004g0224 a0001c0003t0001g0313	4	338	0.0118	-240	c.22+ others(17): Show c.22+12201_22+12440del	AGO2	ENSG00000123908.12	transcript	ENST00000220592.10	protein_coding	1/18			chr8	TogoVar
AK8_chr9_132720578_132883284	132821762	CATATATG others(233): Show CATATATGTATATGTGTATGTATATACAAATATATACATATATGTGTATG TATATACAAATATATACATATATGTGTATGTATATACAAATATATACATA TATGTGTATGTATATACAAATATATACATATATGTGTATGTATATACAAA TATATACATATATGTGTATGTATATACAAATATATACATATATGTGTATG TATATACAAATATATACATATATGTGTATGTATATACAAAT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	266	0.0038	-240	c.889 others(17): Show c.889+1203_889+1442del	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	9/12			chr9	TogoVar
AP3D1_chr19_2095988_2156566	2128783	GCCCCCGC others(233): Show GCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGC TCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTG CACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCAACACTGCACCCCGTGG AGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCG CCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGC	G G	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0004 a0002c0007t0004	a0002c0007t0004g0390 a0002c0007t0004g0394 a0002c0007t0004g0390 a0002c0007t0004g0394	2	406	0.0049	-240	c.806 others(14): Show c.806+67_806+306del	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
ARHGEF16_chr1_3449665_3486113	3474932	AGCGCTGA others(233): Show AGCGCTGACAGGGAAACTGAGGCCCAGAGGTTCCCAGATTATCCATCCCA AGCCTTTCACAGCGCTGACAGGGAAACTGAGGCCCAGAGGTTCCCAGATT ATCCATCCCAAGCCTTTCACAGCGCTGACAGGGAAACTGAGGCCCAGAGG TTCCCAGATTATCCATCCCAGGCCTTTCACGGCGCTGACAGGGAAACTGA GGCCCAGAGGTTCCCAGATTATCCATCCCAGGCCTTTCACG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0043 a0002c0002t0002g0043	1	334	0.0030	-240	c.138 others(17): Show c.1380+200_1380+439del	ARHGEF16	ENSG00000130762.15	transcript	ENST00000378378.9	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
ARHGEF16_chr1_3449665_3486113	3475052	AGCGCTGA others(233): Show AGCGCTGACAGGGAAACTGAGGCCCAGAGGTTCCCAGATTATCCATCCCA GGCCTTTCACGGCGCTGACAGGGAAACTGAGGCCCAGAGGTTCCCAGATT ATCCATCCCAGGCCTTTCACGGCGCTGACAGGGAAACTGAGGCCCAGAGG TTCCCAGATTATCCATCCCAGGCCTTTCACGGCGCTGACAGGGAAACTGA GGCCCAGAGGTTCCCAGATTATCCATCCCAGGCCTTTCACG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	334	0.0030	-240	c.138 others(17): Show c.1380+390_1381-559del	ARHGEF16	ENSG00000130762.15	transcript	ENST00000378378.9	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATP5ME_chr4_667436_679276	668692	GCTATGCC others(233): Show GCTATGCCATGCTATTCCCCTACCCCATGCTATTCCTGCTATGCCATGCT ATTCCCCTACCCCATGCTATTCCCCTACCCCATGCTGCTCCCACTACCCC ACGCTATTCCCCTACCCCATGCTGCTCCCACTACCCCACGCTATTCCCCT ACCCCATGCTATTCCCGCTATGCCATGCTATTCCCGCTACCCCATGCTAT TCCCCTACCCCATGCTGCTCCCACTACCCCACGCTATTCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	394	0.0025	-240	c.35 others(11): Show c.3568_*3807del	ATP5ME	ENSG00000169020.10	transcript	ENST00000304312.5	protein_coding		3743		chr4	TogoVar
ATP8B4_chr15_49853238_50124233	50086704	ATTATTAT others(233): Show ATTATTATATATAATAAAATAATATAGAGATCTATATTTATTATATATAA AATAATAGAGATCTATATTATTATATATAATAAAATAATATAGAGATCTA TATTTATTATATATAATAAAATAATAGAGATCTATATTATTATATATAAT AAAATAATATAGAGATCTATATTTATTATATATAATAAAATAATAGAGAT CTATATTATTATATATAATAAAATAATATAGAGATCTATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00733.hp1 HG01074.hp1 others(3): Show HG00099.hp2 HG00733.hp1 HG01074.hp1 HG01099.hp1 HG01123.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 others(3): Show a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139	6	254	0.0236	-240	c.29- others(17): Show c.29-12759_29-12520del	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27			chr15	TogoVar
ATP9B_chr18_79064394_79383283	79145562	CCGGTGTG others(233): Show CCGGTGTGGAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTGGC GGTGTGCAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTGGCGG TGTGCAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTGGCGGTG TGCAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTGACGGTGTG CAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTGG	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0005 a0001c0001t0010g0005	1	298	0.0034	-240	c.726 others(17): Show c.726+1806_726+2045del	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	6/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
B3GNTL1_chr17_82937149_83056770	83011912	ATCCCAGC others(233): Show ATCCCAGCTCGTTTGAACACACGCCACGAACTCCTCGTATCCATAAGTAT CCCAGCTCGTTTGAACACACGCCACGAACTCCTCGTATCCATAAGTCTCC CAGCTCGTTTGAACACACGCCACGAACTCCTCGTATCCATAAGTCTCCCA GCTCGTTTGAACACACGCCACGAACTCCTCGTATCCATAAGTCTCCCAGC TCGTTTGAACACACGCCACGAACTCCTCGTATCCATAAGTC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00741.hp2 others(10): Show HG00408.hp1 HG00438.hp1 HG00741.hp2 HG01361.hp1 HG01516.hp1 HG01943.hp1 HG02015.hp2 HG02027.hp2 HG02132.hp2 HG02165.hp2 HG02896.hp1 NA18965.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0014 others(3): Show a0001c0001 a0001c0002 a0001c0014 a0002c0005 a0002c0009 a0002c0010	a0001c0001t0002 a0001c0001t0006 a0001c0001t0032 others(6): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0032 a0001c0002t0002 a0001c0014t0001 a0002c0005t0003 a0002c0009t0003 a0002c0009t0013 a0002c0010t0007	a0001c0001t0002g0058 a0001c0001t0006g0153 a0001c0001t0006g0159 others(10): Show a0001c0001t0002g0058 a0001c0001t0006g0153 a0001c0001t0006g0159 a0001c0001t0032g0162 a0001c0002t0002g0086 a0001c0002t0002g0095 a0001c0014t0001g0012 a0002c0005t0003g0056 a0002c0005t0003g0057 a0002c0005t0003g0161 a0002c0009t0003g0090 a0002c0009t0013g0087 a0002c0010t0007g0216	13	266	0.0489	-240	c.363 others(17): Show c.363+2302_363+2541del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	5/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83011960	ATCCCAGC others(233): Show ATCCCAGCTCGTTTGAACACACGCCACGAACTCCTCGTATCCATAAGTCT CCCAGCTCGTTTGAACACACGCCACGAACTCCTCGTATCCATAAGTCTCC CAGCTCGTTTGAACACACGCCACGAACTCCTCGTATCCATAAGTCTCCCA GCTCGTTTGAACACACGCCACGAACTCCTCGTATCCATAAGTCTCCCAGC TCGTTTGAACACACGCCACGAACTCCTCGTATCCATAAGTC	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0016 a0001c0006t0001g0016	1	266	0.0038	-240	c.363 others(17): Show c.363+2254_363+2493del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	5/12			chr17	TogoVar
BOP1_chr8_144257045_144296438	144281114	TCTCAGTT others(233): Show TCTCAGTTTAATACCAGGTCTTAGGCCTTCTCTCAGTTTAATACCAGGTC TTCGGCCTTCCCTCACTTTCATACCAGGTCTTTGGCCTTCTCTCAGTTTA ATACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTC CCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCACTTTCATACCAGGTC TTTGGCCTTCTCTCAGTTTAATACCAGGTCTTCGGCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	398	0.0025	-240	c.310 others(17): Show c.310-5050_310-4811del	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281144	TCTCAGTT others(233): Show TCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCACTTTCATACCAGGTC TTTGGCCTTCTCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCAGTTTA ATACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTC CCTCACTTTCATACCAGGTCTTTGGCCTTCTCTCAGTTTAATACCAGGTC TTCGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTCC	T T	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	398	0.0025	-240	c.310 others(17): Show c.310-5080_310-4841del	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar

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