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
FAM227A_chr22_38573118_38661392	38648357	AAGCACTT others(358): Show AAGCACTTTGGGAGGCTGAGGCAGGCGGATCACCTGAGGTCAGGAGTTCG AGACCAACCTGACCAACATGGAGAAACCCTGTCTCTTCTAAAAATACAAA ATTAGCCAGACGTGGTGGCACATGCCTGTAATCCCAGCTACCTGGGAGGC TGAGGCAGGAGAACTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCG AGATCATGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACTCTGTCTC AGAAACAAACAAACAAAATATTTAAAGAACTCTTAAAAACTCGACAGTAA GAAAATACACAACCTGATTTAAAAATGGGCTAAAGGTTGGGTGCGGTGGC TCACGCCTGTAATCCC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00735.hp2 HG01069.hp2 others(4): Show HG00140.hp1 HG00735.hp2 HG01069.hp2 HG01256.hp1 HG01258.hp1 HG03209.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0033 a0001c0001t0034 a0001c0001t0014 a0001c0001t0033 a0001c0001t0034	a0001c0001t0014g0163 a0001c0001t0014g0164 a0001c0001t0014g0165 others(4): Show a0001c0001t0014g0163 a0001c0001t0014g0164 a0001c0001t0014g0165 a0001c0001t0014g0166 a0001c0001t0014g0167 a0001c0001t0033g0155 a0001c0001t0034g0162	7	328	0.0213	-365	c.142 others(17): Show c.142+1305_142+1669del	FAM227A	ENSG00000184949.18	transcript	ENST00000535113.7	protein_coding	2/16			chr22	TogoVar
IBA57_chr1_228160804_228187257	228174129	CTGTGGGC others(358): Show CTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCT GTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGT GGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGG GCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGC GTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGT GGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGG CTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCT CGCTGTGGGCGTGGCT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00673.hp1 NA19066.hp2 HG00609.hp2 HG00673.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0157 a0001c0001t0158 a0001c0001t0159 a0001c0001t0157 a0001c0001t0158 a0001c0001t0159	a0001c0001t0157g0036 a0001c0001t0158g0036 a0001c0001t0159g0036 a0001c0001t0157g0036 a0001c0001t0158g0036 a0001c0001t0159g0036	3	416	0.0072	-365	c.342 others(15): Show c.342-562_342-198del	IBA57	ENSG00000181873.13	transcript	ENST00000366711.4	protein_coding	1/2			chr1	TogoVar
LHPP_chr10_124456823_124619141	124506963	GGCGGGTA others(358): Show GGCGGGTAGACAGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTCG GGGGGTAGACAGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGTA GGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGCAGG GGTAGACAGGATTTCAGGTCGGGGGGTTAGAGAGGATTTCAGGTGGGAGG GTAGGCAGGATTTCAGGTCAGGGGGATAGACAGGATTTCAGGTGGGGGGA TAGGGAAGATTTCAGGTGTGGAGGGTAGGCAGGATTTCAGGTCGGGGGGG TAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGT AGACAGGATTTCAGGT	G G	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	260	0.0039	-365	c.624 others(17): Show c.624+8837_624+9201del	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124506965	CGGGTAGA others(358): Show CGGGTAGACAGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTCGGG GGGTAGACAGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGTAGG GGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGCAGGGG TAGACAGGATTTCAGGTCGGGGGGTTAGAGAGGATTTCAGGTGGGAGGGT AGGCAGGATTTCAGGTCAGGGGGATAGACAGGATTTCAGGTGGGGGGATA GGGAAGATTTCAGGTGTGGAGGGTAGGCAGGATTTCAGGTCGGGGGGGTA GACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAG ACAGGATTTCAGGTGG	C C	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	260	0.0039	-365	c.624 others(17): Show c.624+8841_624+9205del	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC27_chr10_132327193_132386508	132358670	GTGGAGCA others(358): Show GTGGAGCAGTGTGGGGAGGAGCCGAGGTGGTAGAGCAGTGTGGGGAGGAG CCAAGGTGGTGGAGCAGCGTGGGGAGGAGCCGAGGTGATGGAGCAGTGTG GGGAGGAGCCGAGGTGGTGGAGTGTGGGGAGGAGCCGAGGTGGTGGAGCG TGGGAAGGAGCCGAGCTGGTGGAGCAGCGTAGGGAGGAGCCGAGGTGGTG GAGCAGTGTGGGGAGGAGCCGAGGTGGTGGAGCAGTGTGGGGAGGAGCCG AGGTGGTAGAGCAGTGTGGGGAGGAGCCAAGGTGGTGGAGTGTGGGGAGG AGCCGAGGTGGTGGAGCGTGGGAAGGAGCCGAGGTGGTGGAGCAGCGTGG GGAGGAGCCGAGGTGA	G G	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	290	0.0035	-365	c.117 others(19): Show c.1171-2756_1171-2392del	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LUC7L2_chr7_139354894_139428454	139424841	GCCAGGCT others(358): Show GCCAGGCTTGTTTTTTTTTTTTTTTTTTTTGTTTTTTGTTTTTTTTTTGT TTTTTTTTTTGTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCC GCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00408.hp2 others(155): Show HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00597.hp1 HG00639.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01257.hp2 HG01261.hp1 HG01433.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG04115.hp2 HG04184.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18949.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18957.hp1 NA18962.hp2 NA18963.hp1 NA18966.hp1 NA18968.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18990.hp2 NA18993.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19004.hp1 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19062.hp2 NA19064.hp1 NA19066.hp2 NA19074.hp1 NA19077.hp2 NA19087.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0002t0004	a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0005 others(142): Show a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0013 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0107 a0001c0001t0002g0261 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0004g0002 a0001c0001t0004g0003 a0001c0001t0004g0015 a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0026 a0001c0001t0004g0081 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0093 a0001c0001t0004g0094 a0001c0001t0004g0095 a0001c0001t0004g0096 a0001c0001t0004g0097 a0001c0001t0004g0098 a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0004g0101 a0001c0001t0004g0102 a0001c0001t0004g0103 a0001c0001t0004g0104 a0001c0001t0004g0105 a0001c0001t0004g0106 a0001c0001t0004g0108 a0001c0001t0006g0091 a0001c0001t0008g0043 a0001c0001t0009g0143 a0001c0002t0004g0009 a0001c0002t0004g0109 a0001c0002t0004g0110 a0001c0002t0004g0111	158	276	0.5725	-365	c.25 others(11): Show c.2502_*2866del	LUC7L2	ENSG00000146963.18	transcript	ENST00000354926.9	protein_coding		1388		chr7	TogoVar
LYRM4_chr6_5103419_5265950	5135062	CGGGACTG others(358): Show CGGGACTGTGGAGGGTGCGGTTCACTCCCGGGACTGTGGAGGGTGCGGAT CGCTCCCGGGACTGTGGAGGGTGCGGATCGCTCCCGGGGCTGTGGAGGGT GCGGTTCTCTCCCGGGGCTGTGGAGGGTGCGGTTCACTCCCGGGGCTGTG GAGGGTGCGGTTCACTCCCGGGGCTGTGGAGGGTGCGGTTCACTCCCGGG ACTGTGGAGGGTGCGGATCGCTCCTGGGGCTGTGGAGGGTGCGGTTCACT CCCGGGACTGTGGAGGGTGCGGATCGCTCCCGGGACTGTGGAGGGTGCGG ATCGCTCCCGGGGCTGTGGAGGGTGCGGTTCTCTCCCGGGGCTGTGGAGG GTGCGGTTCACTCCCG	C C	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	286	0.0035	-365	c.208 others(19): Show c.208-25936_208-25572del	LYRM4	ENSG00000214113.11	transcript	ENST00000330636.9	protein_coding	2/2			chr6	TogoVar
MYOM2_chr8_2040046_2150456	2085574	TGTTGTGA others(358): Show TGTTGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTGCGTGGCCCCCC ACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCC CCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTCGTGATCTCTTTGTGG CCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTT GTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCT CTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGAT CTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCG TGATCTCTGCGTGGCC	T T	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01168.hp2 HG01169.hp1	a0012 a0012	a0012c0011 a0012c0011	a0012c0011t0001 a0012c0011t0001	a0012c0011t0001g0003 a0012c0011t0001g0003	2	403	0.0050	-365	c.164 others(17): Show c.1644+185_1644+549del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36			chr8	TogoVar
NHERF2_chr16_2021902_2044026	2034364	ACTCCTGT others(358): Show ACTCCTGTCCCCACGCCTTCCCTCCGTCCCAGGCCAGCCTGGGGGCCGTG CTCCACCTCCCCTCCCGAACTGGACTCCTGTCCCCACGCCTTCCCTCCGT CCCAGGCCAGCCTGGGGGCCGTGCTCCACCTCCCCTCCCGAACTGGACTC CTGTCCCCACGCCTTCCCTCCGTCCCAGGCCAGCCTGGGGGCCGTGCTCC ACCTCCCCTCCCGAACTGGGCTCCTGTCCCCACGCCTTCCCTCCGTCCCA GGCCAGCCTGGGGGCCGTGCTCCACCTCCCCTCCCGAACTGGACTCCTGT CCCCACGCCTTCCCTCCGTCCCAGGCCAGCCTGGGGGCCGTGCTCCACCT CCCCTCCCGAACTGGG	A A	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	422	0.0024	-365	c.415 others(17): Show c.415-1914_415-1550del	NHERF2	ENSG00000065054.14	transcript	ENST00000424542.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
OTUD7A_chr15_31470398_31875673	31510584	TACATATG others(358): Show TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATATATGTATATCTATATGTAACATA TATGTATATCTATATGTAACATATATGTATATCTATATGTAACATATATG TATATCTATATGTAAC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01175.hp1 HG00423.hp1 HG01175.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0061 a0002c0008t0017 a0001c0001t0061 a0002c0008t0017	a0001c0001t0061g0183 a0002c0008t0017g0090 a0001c0001t0061g0183 a0002c0008t0017g0090	2	244	0.0082	-365	c.894 others(17): Show c.894-7131_894-6767del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
PID1_chr2_229018973_229276287	229184404	ATATATCT others(358): Show ATATATCTATCCCGTATATATATAGCCCGTATATATATATAGCCCGTATA TATATAGCCCGTATATATATATCCCGTATATATATATACCGTATATATAT ATATCCCGTATATATATATCCCGTATATATATATATATCCCGTATATATA TATCCCGTATATATATATATCCCGTATATATATATCCCGTATATATATAT ATCCCGTATATATATATCCCGTATATATATATATCCCGTATATATATATC CCGTATATATATATATCCCGTATATATATATCCCGTATATATATATATCC CGTATATATATATCCCGTATATATATATATCCCGTATATATATATCCCGT ATATATATATATCCCG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01884.hp1 HG02055.hp1 others(7): Show HG01106.hp1 HG01884.hp1 HG02055.hp1 HG02451.hp1 HG02615.hp1 HG02809.hp1 HG02818.hp2 HG02976.hp1 HG03209.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0129 a0001c0001t0002g0135 a0001c0001t0003g0026 others(7): Show a0001c0001t0001g0129 a0001c0001t0002g0135 a0001c0001t0003g0026 a0001c0001t0003g0136 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0248 a0001c0001t0004g0249 a0001c0001t0005g0070 a0001c0001t0006g0062	10	256	0.0391	-365	c.31- others(17): Show c.31-28805_31-28441del	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	1/2			chr2	TogoVar
PTPRH_chr19_55176247_55214501	55208057	CCTGGACT others(358): Show CCTGGACTCCTGAGTCTGAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGG TCTGAGGGAGGAGGGCCTGGGGGCCTGGGGGCCTGGGTCTGAGGGAGGAG GGGCTGGGGGTCTCGACCTCTGGTTTGAGGGAGGAGAGGTTGGGGGCCTG GACTCCTGAGTCTGAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGGTCTG AGGGAGGAGGGGCTGGGGGTCTGGATTCCTGGGTCTGAGGGAGGAGGGGC TGGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTCGAC CTCTGGTTTGAGGGAGGAGAGGTTGGGGGCCTGGACTCCTGAGTCTGAGG GAGGAGGGGCTGGGGT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02818.hp1 HG02970.hp2 others(3): Show HG02559.hp2 HG02818.hp1 HG02970.hp2 HG03471.hp2 HG03579.hp2 HG04199.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0017	a0001c0014 a0002c0013 a0002c0036 others(2): Show a0001c0014 a0002c0013 a0002c0036 a0004c0079 a0017c0031	a0001c0014t0001 a0002c0013t0001 a0002c0036t0002 others(2): Show a0001c0014t0001 a0002c0013t0001 a0002c0036t0002 a0004c0079t0003 a0017c0031t0001	a0001c0014t0001g0315 a0002c0013t0001g0030 a0002c0036t0002g0314 others(2): Show a0001c0014t0001g0315 a0002c0013t0001g0030 a0002c0036t0002g0314 a0004c0079t0003g0313 a0017c0031t0001g0312	6	378	0.0159	-365	c.51+ others(13): Show c.51+961_52-859del	PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	1/19			chr19	TogoVar
PXDN_chr2_1626887_1749515	1703246	GGGGCAAC others(358): Show GGGGCAACTCCAGGTGAAGGTAGGGGGCAACTCCAGGTGAAGGTAGGGGA CAACTCCAGGTGAAGGGGGGCAACTCCAGGTGAAGGGAGGGCAACTCCAG GTGAAGGGGGGGACAGCTCCAGGTGAAGTGGGGGACAGCTCCAGGTGAAG GAGGGACAACTCCAGGTGAAGGAGGGACAACTCCAGGTGAAGCGGGGGAC AACTCCCGGTGAAGGAGAGACAACTCCAGGTGAAGGGGGGGCAACTCCAG GTGAAGGGGGGACAACTCCAGGTGAAGGGGGGACAGCTCCAGGTGAAGGG GGGGCAGCTCCAGGTGAAGGTGGGGGACAACTCCAGGTGAAGGGGGGGCA ACTCCAGGTGAAGGGA	G G	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0181 a0001c0001t0009g0181	1	322	0.0031	-365	c.201 others(19): Show c.201-10477_201-10113del	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
RNF17_chr13_24759169_24884921	24878729	CCACATAG others(358): Show CCACATAGAGAGTGGGTCTTCCTCTCTGTCCACTGATTTAGCATCAGTCT CCTCTGAAAACACCCTCACAGACACACCTAGAAATGCTTCACCAGCCATT GAGGCATCCCTCAATCCAGCCAAGTTAACAACTAATATTAACCATCACAG TCAGTTTATGCATAAAGGTATAATGCTTTGTGTGGAATGCAAATGAACTG TAACAAGGGATGGTGGTGACAAAGCCCACTGGCTTCATTTAGGAAGACCT TGTGAGAAGGAATTTAAAGAGAGCAGAAGAATGGAAAGAATGGGATTTTG CAGGAAACCACTACAGATGCCTTTTGGAAGCATAGAGCATAAATTATCAA TAGGCCCCTGAGAACA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0155 a0003c0006t0001g0155	1	426	0.0024	-365	c.477 others(16): Show c.4774-456_4774-92del	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding	34/35		INFO_REALIGN_3_PRIME	chr13	TogoVar
TCERG1L_chr10_131087391_131316721	131289536	TGTGTATG others(358): Show TGTGTATGTGTGCACCGCTGTGTGTGAGCAGGTGTGCACTGCCTCCATCT CCTATCAATGTGAGTGTATGTGTGCACCGCTGTGTGTGAGGTGTGCACTG CCTCCATCTCCTATCGGTGTGTGTGTGTGTATGTGTGCACTGCTGTGTGT GAGGTGTGCACTGCCTCCATCTATCAATGTGAGTGTACGTGTGCACTGCT GTGTGTGAGCAGGTGTGCACTGCCTCCATCTCCTATCGGTGTGAGTGTAT GTGTGCACTGCTGTGTGTGAGCAGGTGTGCACTGCCTCCATCTCCTATCG GTGTGTGTGTGTGTATGTGTGCACTGCTGTGTGTGAGCAGGTGTGCACTG CCTCCATCTCCTATCG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(227): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03516.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18981.hp2 NA18983.hp2 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19065.hp2 NA19077.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0006 others(3): Show a0001 a0004 a0006 a0007 a0008 a0009	a0001c0001 a0001c0002 a0001c0009 others(8): Show a0001c0001 a0001c0002 a0001c0009 a0001c0012 a0001c0013 a0001c0015 a0004c0006 a0006c0014 a0007c0007 a0008c0011 a0009c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0022 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0010 a0001c0002t0014 a0001c0002t0015 a0001c0002t0016 a0001c0009t0007 a0001c0012t0001 a0001c0013t0003 a0001c0015t0002 a0004c0006t0003 a0006c0014t0004 a0007c0007t0007 a0008c0011t0004 a0009c0010t0007	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0025 others(227): Show a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0223 a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0244 a0001c0001t0002g0247 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0260 a0001c0001t0002g0264 a0001c0001t0002g0266 a0001c0001t0002g0268 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0305 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0003g0017 a0001c0001t0003g0019 a0001c0001t0003g0023 a0001c0001t0003g0026 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0037 a0001c0001t0003g0044 a0001c0001t0003g0053 a0001c0001t0003g0055 a0001c0001t0003g0057 a0001c0001t0003g0060 a0001c0001t0003g0062 a0001c0001t0003g0070 a0001c0001t0003g0073 a0001c0001t0003g0086 a0001c0001t0003g0095 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0004g0014 a0001c0001t0004g0018 a0001c0001t0004g0024 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0049 a0001c0001t0004g0059 a0001c0001t0004g0067 a0001c0001t0004g0080 a0001c0001t0004g0081 a0001c0001t0004g0083 a0001c0001t0004g0092 a0001c0001t0005g0202 a0001c0001t0005g0238 a0001c0001t0005g0246 a0001c0001t0005g0248 a0001c0001t0005g0249 a0001c0001t0005g0250 a0001c0001t0005g0251 a0001c0001t0005g0265 a0001c0001t0005g0296 a0001c0001t0005g0297 a0001c0001t0005g0298 a0001c0001t0005g0299 a0001c0001t0005g0300 a0001c0001t0005g0304 a0001c0001t0005g0306 a0001c0001t0005g0308 a0001c0001t0006g0016 a0001c0001t0006g0022 a0001c0001t0006g0027 a0001c0001t0006g0028 a0001c0001t0006g0033 a0001c0001t0006g0036 a0001c0001t0006g0071 a0001c0001t0006g0072 a0001c0001t0006g0085 a0001c0001t0006g0111 a0001c0001t0006g0116 a0001c0001t0007g0198 a0001c0001t0007g0224 a0001c0001t0007g0239 a0001c0001t0007g0259 a0001c0001t0007g0261 a0001c0001t0007g0263 a0001c0001t0007g0285 a0001c0001t0007g0312 a0001c0001t0007g0313 a0001c0001t0007g0318 a0001c0001t0008g0215 a0001c0001t0008g0243 a0001c0001t0008g0303 a0001c0001t0008g0309 a0001c0001t0009g0245 a0001c0001t0009g0254 a0001c0001t0009g0262 a0001c0001t0009g0267 a0001c0001t0010g0075 a0001c0001t0010g0089 a0001c0001t0012g0311 a0001c0001t0013g0001 a0001c0001t0017g0054 a0001c0001t0018g0091 a0001c0001t0019g0184 a0001c0001t0022g0287 a0001c0002t0001g0117 a0001c0002t0001g0124 a0001c0002t0001g0126 a0001c0002t0001g0129 a0001c0002t0001g0131 a0001c0002t0001g0133 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0141 a0001c0002t0001g0144 a0001c0002t0001g0146 a0001c0002t0001g0148 a0001c0002t0001g0151 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0158 a0001c0002t0001g0162 a0001c0002t0001g0173 a0001c0002t0001g0175 a0001c0002t0001g0178 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0003g0120 a0001c0002t0003g0121 a0001c0002t0003g0130 a0001c0002t0003g0132 a0001c0002t0003g0135 a0001c0002t0003g0140 a0001c0002t0003g0142 a0001c0002t0003g0152 a0001c0002t0003g0155 a0001c0002t0003g0156 a0001c0002t0003g0157 a0001c0002t0003g0160 a0001c0002t0003g0166 a0001c0002t0003g0174 a0001c0002t0003g0176 a0001c0002t0004g0123 a0001c0002t0004g0127 a0001c0002t0004g0137 a0001c0002t0004g0145 a0001c0002t0004g0149 a0001c0002t0004g0159 a0001c0002t0004g0168 a0001c0002t0004g0169 a0001c0002t0006g0150 a0001c0002t0006g0161 a0001c0002t0006g0163 a0001c0002t0006g0164 a0001c0002t0006g0165 a0001c0002t0006g0171 a0001c0002t0006g0172 a0001c0002t0006g0177 a0001c0002t0010g0179 a0001c0002t0014g0167 a0001c0002t0015g0143 a0001c0002t0016g0134 a0001c0009t0007g0310 a0001c0012t0001g0119 a0001c0013t0003g0147 a0001c0015t0002g0323 a0004c0006t0003g0125 a0004c0006t0003g0128 a0006c0014t0004g0182 a0007c0007t0007g0307 a0008c0011t0004g0046 a0009c0010t0007g0234	230	324	0.7099	-365	c.670 others(19): Show c.670+18310_670+18674del	TCERG1L	ENSG00000176769.9	transcript	ENST00000368642.4	protein_coding	3/11			chr10	TogoVar
TRIM46_chr1_155168849_155189970	155188853	GGCGGTGG others(358): Show GGCGGTGGAGCCCGGTGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGT GGACTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAG GTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGGCCGGCCTGGTGT CCGGTGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGAGCC GGTCTGTTGTCCGGGGCCGAGGTGACACCGTGTGCTGGAGTGTCGGTGGA GCCCGAGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACTGTGAGCTGGGC TGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCTGTTTTAAATATAC ACCGTGGGCTGCGGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00423.hp1 others(81): Show HG00099.hp2 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01099.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp2 HG01891.hp1 HG01943.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02129.hp1 HG02155.hp1 HG02155.hp2 HG02280.hp2 HG02300.hp2 HG02572.hp2 HG02698.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp2 HG02922.hp1 HG03098.hp1 HG03098.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp2 HG03710.hp1 HG03834.hp1 HG04228.hp2 NA18747.hp1 NA18939.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18950.hp1 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18974.hp1 NA18980.hp2 NA18992.hp1 NA18999.hp1 NA19007.hp1 NA19012.hp2 NA19043.hp2 NA19057.hp2 NA19059.hp1 NA19068.hp1 NA19079.hp1 NA19079.hp2 NA19089.hp2 NA19090.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(23): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0002g0001 a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0012 a0001c0002t0001g0066	84	348	0.2414	-365	c.46 others(11): Show c.4664_*5028del	TRIM46	ENSG00000163462.19	transcript	ENST00000334634.9	protein_coding		3884		chr1	TogoVar
TRUB1_chr10_114933195_114982676	114935326	CGAGGGGT others(358): Show CGAGGGGTCCACTCCTGTGACCCAATCACCTACCACCAGGCCCAACCTCC AACACTGGGAGCTAAACCATTCACGAGGGGTCCACTCCTGTGACCCAATC ACCTACCACCAGGCCCAACCTCCAACACTGGGAGCTAAACCATTCACGAG GGGTCCACTCCTGTGACCCAATCACCTACCACCAGGCCCAACCTCCAACA CTGGGAGCTAAACCATTCACGAGGGGTCCACTCCTGTGATCCAATCACCT ACCACCAGGCCCAACCTCCAACACTGGGAGCTAAACCATTCACGAGGGGT CCACTCCTGTGATCCAATCACCTACCACCAGGCCCAACCTCCAACACTGG GAGCTAAACCATTCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0153 a0001c0001t0004g0153	1	238	0.0042	-365	c.-29 others(11): Show c.-2927_-2563del	TRUB1	ENSG00000165832.6	transcript	ENST00000298746.5	protein_coding		2868		chr10	TogoVar
VGLL4_chr3_11551069_11648915	11604406	GCAGCCTC others(358): Show GCAGCCTCACACAAGGCTTACAGCAAAGGAAAAGAATCCGCACATAAGGT CAGGGACAGGTCCGTTCAGTTATGTGCCTTTATGCATCTTTGGGGCCCCT CCCTAGATGGCCTTAACCCAACACTTGTATGTTAGACAAGAGTGGTAACT GTTGTATGTGTGGTGGGGTTAAAATTATTTTTGTAAAACTGAAGCAGACA TTTGTTCTGGGAGATAAGACACTTGCATTGCAATCTTGACTCCTCCTTTA TTTAGGATGGGGTGAATTTGGGCACGTGCTTCCCCTCTCTGGGCCTCCCT CCATACAACAAGGGGCTGGACTAGCTAATGTGTCATGTTCTTTCCAGCTC TTAGAATTACTGATGC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02723.hp2 others(7): Show HG01884.hp2 HG01891.hp2 HG02723.hp2 HG02895.hp2 HG02965.hp1 HG03041.hp2 HG03579.hp2 HG06807.hp1 NA18522.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0012 a0001c0001t0015 a0001c0001t0022 a0001c0001t0028	a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0004g0281 others(7): Show a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0004g0281 a0001c0001t0008g0117 a0001c0001t0012g0116 a0001c0001t0012g0119 a0001c0001t0015g0092 a0001c0001t0015g0115 a0001c0001t0022g0114 a0001c0001t0028g0356	10	388	0.0258	-365	c.83- others(15): Show c.83-2749_83-2385del	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	1/4			chr3	TogoVar
ZNF516_chr18_76352682_76500242	76392982	CAGGTGGT others(358): Show CAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGA GGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGG CAGGTGGTCAGGTGGG	C C	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0341 a0001c0001t0040g0341	1	346	0.0029	-365	c.181 others(21): Show c.1811-13044_1811-12680del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ABCG1_chr21_42214140_42302244	42283783	AACCCAGA others(357): Show AACCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGC AAAGTCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCT GGACAGTTGCAAAGTCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTC TGTCCCGCCTGGACAGTTGCGAAGTCCCCCCCGCCCAGATGAGTGGGGAC CCCCCCACCTCTGTCCCGCCTGGACAGTTGCGAAGTCCCCCCCGCCCAGA TGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCAAAGTCCC CCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTT GCGAAGTCCCCCCCG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0065 a0001c0001t0018g0065	1	354	0.0028	-364	c.735 others(15): Show c.735-776_735-413del	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14			chr21	TogoVar
ABCG1_chr21_42214140_42302244	42283800	ACCCCCCC others(357): Show ACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCAAAGTCCCCCCGCCCAG ATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCAAAGTCC CCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGT TGCGAAGTCCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCC GCCTGGACAGTTGCGAAGTCCCCCCCGCCCAGATGAGTGGGGACCCCCCC ACCTCTGTCCCGCCTGGACAGTTGCAAAGTCCCCCCGCCCAGATGAGTGG GGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCGAAGTCCCCCCCGCC CAGATGAGTGGGGAC	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0098 a0001c0001t0004g0098	1	354	0.0028	-364	c.735 others(15): Show c.735-753_735-390del	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ADARB2_chr10_1172313_1742525	1238895	CCCTGCAT others(357): Show CCCTGCATCCCGGTGTTTACTCCCCTCTCCCTCCCTCTGGCGATACTCCC CTCTCCCTCCCGGTGTTTACTCCCCTCTTCCTCCCGGTGTTTACTCCCCT CTGCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCT GCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGC CTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCT CCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCC CGGAGTTTACTCCCCTCTCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGC CTCCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0094 a0001c0001t0003g0094	1	106	0.0094	-364	c.136 others(19): Show c.1361+2872_1361+3235del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
AK4_chr1_65143203_65237145	65216547	TGCTTTTC others(357): Show TGCTTTTCATTGATGTGGCAGAGGTTTGCGGGGAAAGAGTTTATAGATGA TCTTGAGGTTGTTTGGGCTGTAGGTACCTTTCTTTTTTTTTCTTTTTTCT TTCTTTCTCTTTCTCTCTGTCTTCCTTTTCTTTCTTTTCTTCTTTTTTTT TTCTTTTTGAGACAGGAGCTCACTATCTCACTCTGTCACCCAGGCTGGAG TGCAGTAGTGTGATTGTAGCTCACTGCAGCCTTGAACTCCTTGGGCTCAA GTAATCCTCCCACCTCAGCTTCCCAAGTACCTGTAACTACAGGCATGCAT CACCAGTAAAAGCAATTTTTTAATTTTTATTTTTGGTAGAGATGGGTTCT CTCTACATTGCCCAG	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp1 HG01069.hp2 others(44): Show HG00642.hp2 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01123.hp2 HG01167.hp2 HG01192.hp2 HG01884.hp1 HG01934.hp2 HG02055.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 NA18522.hp1 NA18906.hp2 NA19030.hp2 NA19043.hp2 NA19240.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0009 others(2): Show a0001c0001 a0001c0006 a0001c0009 a0002c0004 a0002c0005	a0001c0001t0004 a0001c0001t0009 a0001c0001t0014 others(26): Show a0001c0001t0004 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0033 a0001c0001t0034 a0001c0001t0055 a0001c0001t0061 a0001c0001t0077 a0001c0001t0078 a0001c0006t0014 a0001c0006t0025 a0001c0006t0045 a0001c0006t0053 a0001c0006t0065 a0001c0006t0066 a0001c0006t0074 a0001c0009t0040 a0002c0004t0004 a0002c0004t0007 a0002c0004t0009 a0002c0004t0015 a0002c0004t0019 a0002c0004t0032 a0002c0004t0050 a0002c0004t0054 a0002c0005t0004 a0002c0005t0006	a0001c0001t0004g0264 a0001c0001t0004g0265 a0001c0001t0009g0267 others(44): Show a0001c0001t0004g0264 a0001c0001t0004g0265 a0001c0001t0009g0267 a0001c0001t0009g0269 a0001c0001t0014g0001 a0001c0001t0015g0254 a0001c0001t0015g0255 a0001c0001t0019g0266 a0001c0001t0033g0161 a0001c0001t0034g0253 a0001c0001t0055g0256 a0001c0001t0061g0139 a0001c0001t0077g0154 a0001c0001t0078g0158 a0001c0006t0014g0262 a0001c0006t0014g0268 a0001c0006t0025g0034 a0001c0006t0045g0260 a0001c0006t0053g0261 a0001c0006t0065g0118 a0001c0006t0066g0140 a0001c0006t0074g0017 a0001c0009t0040g0263 a0002c0004t0004g0201 a0002c0004t0004g0202 a0002c0004t0004g0214 a0002c0004t0004g0219 a0002c0004t0004g0224 a0002c0004t0004g0229 a0002c0004t0007g0166 a0002c0004t0007g0218 a0002c0004t0009g0222 a0002c0004t0009g0239 a0002c0004t0015g0234 a0002c0004t0019g0208 a0002c0004t0032g0172 a0002c0004t0050g0230 a0002c0004t0054g0200 a0002c0005t0004g0242 a0002c0005t0006g0182 a0002c0005t0006g0185 a0002c0005t0006g0187 a0002c0005t0006g0188 a0002c0005t0006g0189 a0002c0005t0006g0190 a0002c0005t0006g0191 a0002c0005t0006g0192	47	300	0.1567	-364	c.266 others(17): Show c.266-2203_266-1840del	AK4	ENSG00000162433.15	transcript	ENST00000327299.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
C1QTNF8_chr16_1083226_1101244	1092866	TGCACACA others(357): Show TGCACACAGTCGGCGCTCAACCAATCCCTGCACACAGTCGGCGCTCAACA AATCACTGCACACAGTCGGCGCTCAACCAATCACAGCACACAGTCGGCGC TCAACCAATCCCTGCACACAGTCGGCGCTCAATCAATCCCTGCACACAGT CGGCGCTCAACCAATCCCTGCACACAGTCGGCGCTCAACCAATCACTGCA CACAGTCGGCGCTCAACCAATCACAGCACACAGTCGGCGCTCAACCAATC CCTGCACACAGTCGGTGCTCAACAAATCACAGCACACAGTCGGCGCTCAA TCAATCCCTGCACACAGTCGGCGCTCAACCAATCACAGCACACAGTCGGC GCTCAACCAATCACA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02647.hp1 NA18906.hp2 HG02622.hp2 HG02647.hp1 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0161 a0001c0003t0013g0162 a0001c0003t0013g0163 a0001c0003t0013g0161 a0001c0003t0013g0162 a0001c0003t0013g0163	3	396	0.0076	-364	c.4+ others(13): Show c.4+267_*4+630del	C1QTNF8	ENSG00000184471.10	transcript	ENST00000328449.6	protein_coding	4/4			chr16	TogoVar
CSF2RA_chrX_1263814_1314935	1302828	CGATTACA others(357): Show CGATTACAGACATGCATCATGCTTGGCCATTTTTTAAATATTTTTATTTA TTTATTTATTTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCA ATGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCATCACGC TTGGCCAATTTTTGTATTTTTATTTTTATTTATTTATTTATTTATTTTGA GATGGAGTTTCGCTGTGTCACCCAGGCTGGAGTGCAATGGCACGATCTTG GCTCACTGCAACCTCCGTCTCCCAGGCTCAAGCGATTCTCCTGCCTCAGC CTCCTGAGTAGCTGG	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03516.hp2 HG02572.hp2 HG03516.hp2	a0002 a0004 a0002 a0004	a0002c0003 a0004c0010 a0002c0003 a0004c0010	a0002c0003t0002 a0004c0010t0003 a0002c0003t0002 a0004c0010t0003	a0002c0003t0002g0140 a0004c0010t0003g0158 a0002c0003t0002g0140 a0004c0010t0003g0158	2	159	0.0126	-364	c.947 others(16): Show c.947-1031_947-668del	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CTDP1_chr18_79674803_79759503	79745318	TGCGTCCC others(357): Show TGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTC TGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGC GCGTTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTC CCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCG TCCCTCCCGTGCGGGTTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGTC CCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGT TCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGT GCGCGTTCTGTGCCC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01081.hp1 HG01081.hp2 others(4): Show HG00639.hp2 HG01081.hp1 HG01081.hp2 HG02055.hp2 HG02258.hp2 HG02896.hp2 HG02897.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0028 a0001c0035 others(2): Show a0001c0001 a0001c0028 a0001c0035 a0002c0006 a0005c0011	a0001c0001t0002 a0001c0028t0001 a0001c0035t0002 others(2): Show a0001c0001t0002 a0001c0028t0001 a0001c0035t0002 a0002c0006t0001 a0005c0011t0005	a0001c0001t0002g0002 a0001c0028t0001g0202 a0001c0035t0002g0002 others(4): Show a0001c0001t0002g0002 a0001c0028t0001g0202 a0001c0035t0002g0002 a0002c0006t0001g0009 a0002c0006t0001g0221 a0002c0006t0001g0226 a0005c0011t0005g0370	7	378	0.0185	-364	c.274 others(19): Show c.2748-8149_2748-7786del	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79745371	GCCCGCGT others(357): Show GCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGCG TTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCG TGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCC CTCCCGTGCGGGTTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCC GCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCT GTGCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCG CGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCC CGTGCGCGTTCTGTG	G G	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0152	1	378	0.0027	-364	c.274 others(19): Show c.2748-8149_2748-7786del	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79745567	CCCCGCGT others(357): Show CCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCG TTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCG TGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCC CTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCC GCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCT GTCCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCG GGTTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCC CGTGCGCGTTCTGTG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00735.hp2 HG01257.hp2 others(9): Show HG00140.hp1 HG00735.hp2 HG01257.hp2 HG01258.hp2 HG01975.hp1 HG02486.hp2 HG02572.hp1 HG02683.hp1 HG02698.hp1 HG02809.hp1 HG03195.hp2 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0042 a0002c0006 a0001c0003 a0001c0042 a0002c0006	a0001c0003t0001 a0001c0003t0010 a0001c0042t0001 others(1): Show a0001c0003t0001 a0001c0003t0010 a0001c0042t0001 a0002c0006t0001	a0001c0003t0001g0003 a0001c0003t0001g0035 a0001c0003t0001g0040 others(8): Show a0001c0003t0001g0003 a0001c0003t0001g0035 a0001c0003t0001g0040 a0001c0003t0001g0041 a0001c0003t0001g0042 a0001c0003t0001g0051 a0001c0003t0001g0061 a0001c0003t0001g0074 a0001c0003t0010g0044 a0001c0042t0001g0095 a0002c0006t0001g0224	12	378	0.0318	-364	c.274 others(19): Show c.2748-7917_2748-7554del	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79745735	GCCCGCGT others(357): Show GCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGCG TTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCG TGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGGGTTCTGTCCCCGCGTCC CTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCC GCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCT GTGCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCG CGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCC CGTGCGCGTTCTGTC	G G	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0062 a0001c0003t0001g0062	1	378	0.0027	-364	c.274 others(19): Show c.2748-7813_2748-7450del	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
DBNDD1_chr16_89999871_90024456	90023595	GGAGGGAT others(357): Show GGAGGGATTAAAAAGAGAGCAGTACATTACGAATTAAATTTAAGTAGATG GGTTTTCTGACCCAGGAAGGGTCTTCTGAAAACCGACTATGAAAGAAACT ACCAAACTAGGCCAGGAGTCTGGGCGCGGTGGCTCACGCCTGTAATCCCA TCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCCAGAC CATCCTGGCCAACATGGTGAAAATCCATATCTATTAAACATACAAAAATT AGCTGGGTGTGGTGGCGTGTGCCTGTAGTTCCAGCTACTCGGGAGGCTGA GGCAGGAGAATCACTTGGACCTGGGAGGCGGAGGTTGCAGCGAGCCGAGA TCGCACCACCGCACT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG02257.hp1 HG02300.hp1 others(1): Show HG00323.hp1 HG02257.hp1 HG02300.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0049 a0001c0001t0003g0019 a0001c0001t0003g0048 a0001c0001t0001g0049 a0001c0001t0003g0019 a0001c0001t0003g0048	4	412	0.0097	-364	c.-46 others(11): Show c.-4618_-4255del	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		4140		chr16	TogoVar
DUSP16_chr12_12468282_12567863	12515900	TGAGTAGC others(357): Show TGAGTAGCTGAGACTACAGGCAGATGCCACCATGCCCGGCTAATTTTTAT ATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAAC TCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTTCTGGGATT ACAGGTGTAAGTCACCATGGCCGGGCAGTAATGGAGAACTTTCTAAAGCA TCCAAATTTGTTTTTTTTTTAAGATGAGATTGCTACTGATAATTTTGTGT TTTGTTTTTTTAGAGACAGGCTCTCTGTCACCCAGACTGTAGTGCAGTGT TGCAATCACAGCTCACTGTAACCTCGAACTCCTGGGCTCAAGCAATCCTC CCCCATCAGCTTCCC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03139.hp1 HG01109.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0035 a0001c0001t0034 a0001c0001t0035	a0001c0001t0034g0254 a0001c0001t0035g0255 a0001c0001t0034g0254 a0001c0001t0035g0255	2	352	0.0057	-364	c.367 others(17): Show c.367+3598_367+3961del	DUSP16	ENSG00000111266.9	transcript	ENST00000298573.9	protein_coding	3/6			chr12	TogoVar
ELL2_chr5_95880098_95966851	95927389	ATATATAG others(357): Show ATATATAGACATACACACACGTGTGTATATAGACATACACACACACGTGT GTATATAGACATACACACACACGTGTGTATATAGACATACACACACGTGT GTATATAGACATACACACACGTGTGTATATAGACATACACACACGTGTGT ATATAGACATACACACACACGTGTGTATATAGACATACACACACACGTGT GTATATAGACATACACACACACGTGTGTATATAGACATACACACACACGT GTGTATATAGACATACACACACACGTGTGTATATAGACATACACACACAC GTGTGTATATAGACATACACACACACATATGTGTGTATATAGACATACAC ACACACATATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18941.hp1 NA18985.hp2 others(1): Show HG00609.hp1 NA18941.hp1 NA18985.hp2 NA19063.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0011 a0001c0006t0004 a0001c0006t0011	a0001c0006t0004g0042 a0001c0006t0004g0047 a0001c0006t0011g0027 others(1): Show a0001c0006t0004g0042 a0001c0006t0004g0047 a0001c0006t0011g0027 a0001c0006t0011g0028	4	314	0.0127	-364	c.196 others(17): Show c.196-8208_196-7845del	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
EXOC3L4_chr14_103089725_103115559	103109192	GCCACCCT others(357): Show GCCACCCTGTCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGTCCC CGTGTCTCCCTCCCTCCCTCCCTCTCCACCCTGTCCCCATGTCTCCCTCC CTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCC ACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATG TCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCT CCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTG CCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGTCCCCATGTCTCCC TCCCTCCCTCCCTCT	G G	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0317 a0002c0006t0002g0317	1	404	0.0025	-364	c.197 others(17): Show c.1976+684_1977-467del	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
GAL3ST2_chr2_241771822_241809287	241805676	CCCCTCAG others(357): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCC CTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03710.hp2 homoSapiens_chm13v2.hp1 HG03130.hp2 HG03710.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0008 a0001c0001 a0002c0002 a0007c0008	a0001c0001t0001 a0002c0002t0002 a0007c0008t0001 a0001c0001t0001 a0002c0002t0002 a0007c0008t0001	a0001c0001t0001g0027 a0002c0002t0002g0129 a0007c0008t0001g0068 a0001c0001t0001g0027 a0002c0002t0002g0129 a0007c0008t0001g0068	3	314	0.0096	-364	c.15 others(11): Show c.1511_*1874del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1390		chr2	TogoVar
GAS8_chr16_90017680_90049960	90023595	GGAGGGAT others(357): Show GGAGGGATTAAAAAGAGAGCAGTACATTACGAATTAAATTTAAGTAGATG GGTTTTCTGACCCAGGAAGGGTCTTCTGAAAACCGACTATGAAAGAAACT ACCAAACTAGGCCAGGAGTCTGGGCGCGGTGGCTCACGCCTGTAATCCCA TCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCCAGAC CATCCTGGCCAACATGGTGAAAATCCATATCTATTAAACATACAAAAATT AGCTGGGTGTGGTGGCGTGTGCCTGTAGTTCCAGCTACTCGGGAGGCTGA GGCAGGAGAATCACTTGGACCTGGGAGGCGGAGGTTGCAGCGAGCCGAGA TCGCACCACCGCACT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02257.hp1 HG02300.hp2 others(1): Show HG00323.hp2 HG02257.hp1 HG02300.hp2 HG03704.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0128 a0001c0003t0010g0129 a0001c0003t0010g0130 others(1): Show a0001c0003t0010g0128 a0001c0003t0010g0129 a0001c0003t0010g0130 a0001c0003t0010g0131	4	390	0.0103	-364	c.3+8 others(12): Show c.3+872_3+1235del	GAS8	ENSG00000141013.17	transcript	ENST00000268699.9	protein_coding	1/10			chr16	TogoVar
GLT6D1_chr9_135618648_135644540	135619859	TCTCCCCC others(357): Show TCTCCCCCTTCTCCCCCTTCTCCCCAATCTCCCCCGTCTCCCCCTTCTCC CCTGTCTCCCCCATCTCCCCCTTCTCCCCCTACTCCCCTTCTCCCCCTTC TCCCCCATCTGCCCAGTATCCCCTTCTCCCCCTTCTTCCCCTACTCCCCC TACTCCCCCATCTCCCTCTTCTCCCCTATCTCCCCCTTCTCCCCCTACTC CCCCTTCTCCCCCGTCTCCCCTGTCTGCCCAGTCTCCCCCATCTCCCCCT ACTCCCCCTTCTCCCCCTACTCCTTCTCCCCCTTCTCCCCCTTCCCCCTC TACTCCCCCTTCTCCCCCTACTCCCCCGTCTCCCCCGTCTCCCCCTTCTC CCCCTTTTCCCCCTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0160 a0001c0001t0002g0160	1	436	0.0023	-364	c.38 others(11): Show c.3874_*4237del	GLT6D1	ENSG00000204007.8	transcript	ENST00000371763.6	protein_coding		3788		chr9	TogoVar
IDI1_chr10_1034419_1054119	1046466	GCTACACC others(357): Show GCTACACCACACAGCCCAGCTGCTCCACTGTCTGTCTACACCACACAGCC CAGCTGCTCCACTGTCTACACCACACCGCCCAGCTGCTCCACTGTCTACA CCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCC ACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCC CAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACA CCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCC ACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCC CAGCTGCTCCACTGT	G G	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01934.hp1 HG03834.hp1 others(2): Show HG01928.hp1 HG01934.hp1 HG03834.hp1 HG03927.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	5	438	0.0114	-364	c.140 others(17): Show c.140+2034_141-2296del	IDI1	ENSG00000067064.13	transcript	ENST00000381344.8	protein_coding	1/4			chr10	TogoVar
JARID2_chr6_15241069_15527042	15283149	TTTGTATT others(357): Show TTTGTATTTTTATTAGAGACGGGGTTTCACCGTGTTAGCCAGGACGGTCT CGATCTGCCGACCTTGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGG ATTACAGGTGTGAGCCACTGCGCCCGGCCGTTCTGGTATTTATTGAATAT GTCGCAAATATTGTCTCCTAGTCTGTCCTTTGTCCTTTAAGTATTTTTTT TTTTTTTTTTGAGATGGAGTCTCACTCTGTGGCTCAGGCTGGAGCACAAT AGCGTGATCGCGGCTTACTGCAAGCTCCACCTCCTGGGTTCATGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCACCAGCTAC GCCCGGCTAATTTTC	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0139 a0001c0002t0006g0139	1	284	0.0035	-364	c.45+ others(17): Show c.45+36588_45+36951del	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
JARID2_chr6_15241069_15527042	15283172	GTTTCACC others(357): Show GTTTCACCGTGTTAGCCAGGACGGTCTCGATCTGCCGACCTTGTGATCTG CCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGC CCGGCCGTTCTGGTATTTATTGAATATGTCGCAAATATTGTCTCCTAGTC TGTCCTTTGTCCTTTAAGTATTTTTTTTTTTTTTTTTGAGATGGAGTCTC ACTCTGTGGCTCAGGCTGGAGCACAATAGCGTGATCGCGGCTTACTGCAA GCTCCACCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCATGCACCAGCTACGCCCGGCTAATTTTCTTGTATTT TTATTAGAGACGGGA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02895.hp1 HG02897.hp1 others(2): Show HG02145.hp1 HG02895.hp1 HG02897.hp1 NA19065.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0011 a0001c0004t0002 a0001c0001t0001 a0001c0001t0011 a0001c0004t0002	a0001c0001t0001g0146 a0001c0001t0011g0026 a0001c0001t0011g0027 others(2): Show a0001c0001t0001g0146 a0001c0001t0011g0026 a0001c0001t0011g0027 a0001c0004t0002g0189 a0001c0004t0002g0194	5	284	0.0176	-364	c.45+ others(17): Show c.45+36633_45+36996del	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
JAZF1_chr7_27825577_28185795	28174681	AACAGTGA others(357): Show AACAGTGATGTTTTATAAAGGATGATCTGACTGTTTACAGGTGAGAAGAG GCTAATGGAAAAACCAGTGAAAACAGAGTTTTGGAGACTGCCGTAAAGTT TCAGATTTCGGGTTCCCTGATCCTGCCTATGGGGTGTGTGGGTGTGTGTG TGTGTGTGTGTGTGTGTGTATGCACATGTATTTAAAACTCCTAGCATTAC ACCTGGGGGCTTCTCGGGAACCCTGGGAGTAACAGGGAGATCTTGCCGCC AAGCCACAGGGCACAGGCAGAGAGCAGGGCAGGCAGCAACAAGCCTTTCA TTCATTCATTTATTAATTCAGTCATTCCTTCTCCCCACAGGAAGTGTCCT CAATGGAATGCACCC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00642.hp1 others(20): Show HG00140.hp2 HG00280.hp1 HG00642.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp2 HG01167.hp2 HG01192.hp2 HG01243.hp1 HG01256.hp2 HG01884.hp1 HG01934.hp2 HG02055.hp2 HG02293.hp1 HG02572.hp2 HG02809.hp2 HG03225.hp2 HG04184.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0019 a0001c0001t0021	a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 others(20): Show a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0001g0162 a0001c0001t0003g0122 a0001c0001t0003g0129 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0006g0131 a0001c0001t0019g0145 a0001c0001t0021g0127	23	206	0.1117	-364	c.115 others(17): Show c.115+5418_115+5781del	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	1/4			chr7	TogoVar
LMLN_chr3_197955217_198048720	198004562	CATCTATA others(357): Show CATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTTTGACA TCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTTTGA CATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTTT GACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGT TTGACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAA GTTTGACATCTATCTATATATCATCTATACAGATACATATCATACGTAGT AAGTTTGACATCTATCTATATATCATCTATACAGATACATATCATACGTA GTAAGTTTGACATCT	C C	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	258	0.0039	-364	c.131 others(19): Show c.1319+1536_1319+1899del	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
LMLN_chr3_197955217_198048720	198004661	ACATCTAT others(357): Show ACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTT TGACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAG TTTGACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTA AGTTTGACATCTATCTATATATCATCTATACAGATACATATCATACGTAG TAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCATACGT AGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCATAC GTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCAT ACGTAGTAAGTTTGC	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp1 HG01243.hp2 others(16): Show HG00558.hp1 HG00621.hp1 HG01243.hp2 HG01261.hp2 HG01433.hp1 HG02027.hp1 HG02735.hp1 NA18947.hp1 NA18951.hp2 NA18964.hp2 NA18968.hp1 NA18970.hp2 NA18977.hp2 NA19057.hp1 NA19065.hp1 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0013 a0001c0001t0015 others(3): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0015 a0001c0001t0021 a0001c0001t0037 a0001c0005t0041	a0001c0001t0001g0138 a0001c0001t0001g0156 a0001c0001t0001g0160 others(16): Show a0001c0001t0001g0138 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0169 a0001c0001t0001g0177 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0238 a0001c0001t0013g0189 a0001c0001t0015g0254 a0001c0001t0021g0220 a0001c0001t0021g0222 a0001c0001t0037g0200 a0001c0005t0041g0143	19	258	0.0736	-364	c.131 others(19): Show c.1319+1836_1319+2199del	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
LOC102723971_chr9_135609183_135624893	135619859	TCTCCCCC others(357): Show TCTCCCCCTTCTCCCCCTTCTCCCCAATCTCCCCCGTCTCCCCCTTCTCC CCTGTCTCCCCCATCTCCCCCTTCTCCCCCTACTCCCCTTCTCCCCCTTC TCCCCCATCTGCCCAGTATCCCCTTCTCCCCCTTCTTCCCCTACTCCCCC TACTCCCCCATCTCCCTCTTCTCCCCTATCTCCCCCTTCTCCCCCTACTC CCCCTTCTCCCCCGTCTCCCCTGTCTGCCCAGTCTCCCCCATCTCCCCCT ACTCCCCCTTCTCCCCCTACTCCTTCTCCCCCTTCTCCCCCTTCCCCCTC TACTCCCCCTTCTCCCCCTACTCCCCCGTCTCCCCCGTCTCCCCCTTCTC CCCCTTTTCCCCCTA	T T	splice_region_variant splice_region_variant	LOW	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0023 a0001c0001t0025g0023	1	450	0.0022	-364	c.90 others(10): Show c.908_*1271del	LOC102723971	ENSG00000236543.3	transcript	ENST00000430816.3	protein_coding	6/6			chr9	TogoVar
LOX_chr5_122058195_122083259	122061092	GTTTAGCT others(357): Show GTTTAGCTCATCAGTTTGCAGATCACTAGCTGGTAGTATTGGCTCCAAAT TGTCAGACTCAAGATTCATGCATTAATTCACTAAAGACATATATATGAAG ACCCAACATTATTTGATTCATTTTTTTCAAACAAACGATCTCTTATCAGA CTCTATCGTTAAATTTGTCTTTAGCCCCTACTTATACAATTGTGTTAGGA GCTCTGGTTCGACTTGGTATGTAAATTGAGAACTGGCAATATTGTTTCTA ACAGTGACACAGGCATATTCTTGGTAATTGTTTTAATGGTTCTCTTTTTG GTTATATAGCTCTATTTTTTTCTCTCTCCAAATTTTGTGCCTACTTCCCA TAATTAAGAAACAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG02132.hp1 HG02165.hp2 others(14): Show HG01433.hp1 HG02132.hp1 HG02165.hp2 HG03704.hp1 NA18941.hp1 NA18945.hp2 NA18949.hp2 NA18957.hp1 NA18982.hp2 NA18984.hp1 NA18987.hp2 NA18989.hp2 NA18993.hp1 NA18995.hp1 NA19072.hp2 NA19074.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0003 a0002c0002t0018 a0002c0003t0003 a0001c0001t0003 a0002c0002t0018 a0002c0003t0003	a0001c0001t0003g0026 a0002c0002t0018g0048 a0002c0003t0003g0007 others(2): Show a0001c0001t0003g0026 a0002c0002t0018g0048 a0002c0003t0003g0007 a0002c0003t0003g0035 a0002c0003t0003g0105	17	324	0.0525	-364	c.52 others(11): Show c.5287_*5650del	LOX	ENSG00000113083.15	transcript	ENST00000231004.5	protein_coding		2102		chr5	TogoVar
LSG1_chr3_194635791_194677191	194663356	CCCTTTCC others(357): Show CCCTTTCCCTTCTTCCGCCTCAGAGAAAGCCTTTCCCTTCTTCCGCCTCA GAGAAAGCCTTTCCCTTCTTCCGCCTCAGAGAAAGCCTTTCCCTTCTTCC GCCTCAGAGAAAGCCTTTCCCTTCTTCCGCCTCAGAGAAAGCCTTTCCCT TCTTCCGCCTCAGAGAAAGCCTTTCCCTTCTTCCGCCTCAGAGAAAGCCT TTCCCTTCTTCCGCCTCAGAGAAAGCCTTTCCCTTCTTCCGCCTCAGAGA AAGCCTTTCCCTTCTTCCGCCTCAGAGAAAGCCTTTCCCTTCTTCCGCCT CAGAGAAAGCCTTTCCCTTCTTCCGCCTCAGAGAAAGCCTTTCCCTTCTT CCGCCTCAGAGAAAG	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00735.hp1 HG01074.hp1 others(87): Show HG00673.hp1 HG00735.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01256.hp1 HG01358.hp2 HG01361.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG02027.hp1 HG02080.hp2 HG02109.hp1 HG02145.hp2 HG02155.hp2 HG02258.hp1 HG02280.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03669.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18906.hp2 NA18953.hp2 NA18970.hp1 NA18973.hp1 NA18978.hp2 NA18981.hp1 NA19001.hp1 NA19043.hp1 NA19057.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp1 NA21309.hp1	a0002 a0003 a0004 others(3): Show a0002 a0003 a0004 a0006 a0007 a0008	a0002c0002 a0002c0020 a0003c0004 others(5): Show a0002c0002 a0002c0020 a0003c0004 a0003c0018 a0004c0008 a0006c0010 a0007c0012 a0008c0019	a0002c0002t0004 a0002c0002t0006 a0002c0002t0010 others(42): Show a0002c0002t0004 a0002c0002t0006 a0002c0002t0010 a0002c0002t0012 a0002c0002t0013 a0002c0002t0014 a0002c0002t0020 a0002c0002t0025 a0002c0002t0026 a0002c0002t0029 a0002c0002t0030 a0002c0002t0037 a0002c0002t0040 a0002c0002t0041 a0002c0002t0043 a0002c0002t0050 a0002c0002t0056 a0002c0002t0066 a0002c0002t0069 a0002c0002t0072 a0002c0020t0041 a0003c0004t0001 a0003c0004t0002 a0003c0004t0003 a0003c0004t0004 a0003c0004t0007 a0003c0004t0009 a0003c0004t0010 a0003c0004t0012 a0003c0004t0015 a0003c0004t0017 a0003c0004t0018 a0003c0004t0021 a0003c0004t0024 a0003c0004t0025 a0003c0004t0026 a0003c0004t0027 a0003c0004t0031 a0003c0004t0058 a0003c0018t0014 a0004c0008t0010 a0004c0008t0085 a0006c0010t0010 a0007c0012t0007 a0008c0019t0079	a0002c0002t0004g0355 a0002c0002t0004g0371 a0002c0002t0004g0372 others(79): Show a0002c0002t0004g0355 a0002c0002t0004g0371 a0002c0002t0004g0372 a0002c0002t0004g0375 a0002c0002t0004g0379 a0002c0002t0006g0377 a0002c0002t0006g0378 a0002c0002t0010g0352 a0002c0002t0010g0380 a0002c0002t0010g0382 a0002c0002t0010g0383 a0002c0002t0012g0017 a0002c0002t0012g0381 a0002c0002t0013g0015 a0002c0002t0013g0368 a0002c0002t0014g0014 a0002c0002t0014g0353 a0002c0002t0014g0354 a0002c0002t0020g0360 a0002c0002t0020g0361 a0002c0002t0020g0363 a0002c0002t0020g0365 a0002c0002t0020g0366 a0002c0002t0025g0013 a0002c0002t0026g0016 a0002c0002t0029g0370 a0002c0002t0030g0385 a0002c0002t0030g0386 a0002c0002t0037g0362 a0002c0002t0040g0367 a0002c0002t0041g0373 a0002c0002t0043g0376 a0002c0002t0050g0364 a0002c0002t0056g0369 a0002c0002t0066g0359 a0002c0002t0069g0357 a0002c0002t0072g0356 a0002c0020t0041g0374 a0003c0004t0001g0002 a0003c0004t0001g0032 a0003c0004t0001g0035 a0003c0004t0001g0036 a0003c0004t0001g0038 a0003c0004t0001g0045 a0003c0004t0001g0046 a0003c0004t0002g0053 a0003c0004t0002g0060 a0003c0004t0003g0062 a0003c0004t0004g0056 a0003c0004t0004g0057 a0003c0004t0007g0037 a0003c0004t0009g0034 a0003c0004t0010g0039 a0003c0004t0010g0040 a0003c0004t0012g0047 a0003c0004t0012g0048 a0003c0004t0012g0049 a0003c0004t0012g0050 a0003c0004t0012g0051 a0003c0004t0015g0054 a0003c0004t0015g0061 a0003c0004t0017g0033 a0003c0004t0018g0041 a0003c0004t0018g0042 a0003c0004t0018g0043 a0003c0004t0018g0044 a0003c0004t0021g0031 a0003c0004t0024g0029 a0003c0004t0024g0316 a0003c0004t0025g0063 a0003c0004t0026g0052 a0003c0004t0027g0055 a0003c0004t0031g0003 a0003c0004t0031g0059 a0003c0004t0058g0058 a0003c0018t0014g0030 a0004c0008t0010g0018 a0004c0008t0085g0388 a0006c0010t0010g0384 a0006c0010t0010g0387 a0007c0012t0007g0020 a0008c0019t0079g0351	90	408	0.2206	-364	c.521 others(17): Show c.521+1837_521+2200del	LSG1	ENSG00000041802.11	transcript	ENST00000265245.10	protein_coding	5/13			chr3	TogoVar
LSG1_chr3_194635791_194677191	194663427	CGCCTCAG others(357): Show CGCCTCAGAGAAAGCCTTTCCCTTCTTCCGCCTCAGAGAAAGCCTTTCCC TTCTTCCGCCTCAGAGAAAGCCTTTCCCTTCTTCCGCCTCAGAGAAAGCC TTTCCCTTCTTCCGCCTCAGAGAAAGCCTTTCCCTTCTTCCGCCTCAGAG AAAGCCTTTCCCTTCTTCCGCCTCAGAGAAAGCCTTTCCCTTCTTCCGCC TCAGAGAAAGCCTTTCCCTTCTTCCGCCTCAGAGAAAGCCTTTCCCTTCT TCCGCCTCAGAGAAAGCCTTTCCCTTCTTCCGCCTCAGAGAAAGCCTTTC CCTTCTTCCGCCTCAGAGAAAGCCTTTCCCTTCTTCCGCCTCAGAGAAAG CCTTTCCCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG03225.hp1 HG03540.hp1 others(1): Show HG00099.hp2 HG03225.hp1 HG03540.hp1 HG03579.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0061 a0002c0006t0063 a0002c0006t0077 others(1): Show a0002c0006t0061 a0002c0006t0063 a0002c0006t0077 a0002c0006t0080	a0002c0006t0061g0067 a0002c0006t0063g0065 a0002c0006t0077g0066 others(1): Show a0002c0006t0061g0067 a0002c0006t0063g0065 a0002c0006t0077g0066 a0002c0006t0080g0064	4	408	0.0098	-364	c.521 others(17): Show c.521+1766_521+2129del	LSG1	ENSG00000041802.11	transcript	ENST00000265245.10	protein_coding	5/13			chr3	TogoVar
NEU4_chr2_241804193_241822413	241805638	TCCCCCCT others(357): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCA GGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCT TCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGG GACCTAGGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0019 a0002c0003t0002g0019	1	319	0.0031	-364	c.-36 others(11): Show c.-3639_-3276del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3554		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805676	CCCCTCAG others(357): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCC CTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	319	0.0031	-364	c.-36 others(11): Show c.-3601_-3238del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3516		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805898	CTCCCTCC others(357): Show CTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCC CTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCA GGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	319	0.0031	-364	c.-33 others(11): Show c.-3379_-3016del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3294		chr2	TogoVar
OR6B3_chr2_240039571_240058521	240042299	GGAAGGGC others(357): Show GGAAGGGCCGTGGGTGAAGAGGCATGGAGGAAGGGCCGTGGGTGAAGAGG CATGGACGAAGGGCCGTGGGTGAAGAGGCATGGACGAAGGGCCGTGGGTG AAGAGGCATGGACGAAGGGCCGTGGGTGAAGAGGCATGGACGAAGGGCCG TGGGTGAAGAGGCATGGAGGAAGGGCCGTGGGTGAAGAGGCATGGAGGAA GGGCCGTGGGTGAAGAGGCATGGAGGAAGGGCCGTGGGTGAAGAGGCATG GAGGAAGGGCCGTGGGTGAAGAGGCATGGAGGAAGGGCCGTGGGTGAAGA GGCATGGACGAAGGGCCGTGGGTGAAGAGGCATGGACGAAGGGCCGTGGG TGAAGAGGCATGGAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG03486.hp2 HG02965.hp2 HG03486.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0096 a0004c0009t0001g0127 a0004c0009t0001g0096 a0004c0009t0001g0127	2	444	0.0045	-364	c.24 others(11): Show c.2414_*2777del	OR6B3	ENSG00000178586.7	transcript	ENST00000641019.2	protein_coding		2271		chr2	TogoVar

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Search Results (Total: 10000 hits)