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
TRIML1_chr4_188134441_188152743	188152382	GTTGAGAA others(354): Show GTTGAGAAGGGGAGTGAGAGAGAGGGTGAGAAGGGGAGTGAGAGTGGGGG TTGAGAAGGGGAGTGAGAGAGAGGGTGAGAAGGGGAGTGAGAGTGGGGGT GAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGGAAGTGAGAGTGGGGGTTG AGAAGGGGAGTGAGAGAGAGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAG AAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAA GGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGG GGAGTGAGAGTGGGGGTGAGAAAGGGAGTGAGAGTGGGGGTGAGAAGGGG AGTGAGAGAGGG	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0013 a0001c0001t0003g0013	1	228	0.0044	-361	c.50 others(11): Show c.5011_*5371del	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4640		chr4	TogoVar
ABCG1_chr21_42214140_42302244	42283723	ACCCAGAT others(353): Show ACCCAGATGAGTGGGGACCCCCCACCTCTGTCCTGCCTGGACAGTTGTGA AGTACCCCCCAACCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCT GGACAGTTGCAAAGTCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTC TGTCCCGCCTGGACAGTTGCAAAGTCCCCCCGCCCAGATGAGTGGGGACC CCCCCACCTCTGTCCCGCCTGGACAGTTGCGAAGTCCCCCCCGCCCAGAT GAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCGAAGTCCCC CCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTT GCAAAGTCCCC	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00639.hp2 HG00738.hp2 others(19): Show HG00423.hp2 HG00639.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp2 HG01243.hp2 HG01256.hp1 HG01261.hp2 HG01346.hp1 HG02698.hp2 HG02735.hp2 HG03017.hp1 HG03041.hp1 HG03669.hp2 HG03688.hp1 HG03942.hp1 NA18980.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0091 a0001c0001t0001g0156 a0001c0001t0001g0171 others(19): Show a0001c0001t0001g0091 a0001c0001t0001g0156 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0185 a0001c0001t0001g0254 a0001c0001t0001g0263 a0001c0001t0002g0134 a0001c0001t0002g0137 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0286 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0003g0138 a0001c0001t0003g0225 a0001c0001t0004g0267 a0001c0001t0005g0021 a0001c0001t0007g0046 a0001c0001t0007g0055	22	354	0.0622	-360	c.735 others(15): Show c.735-834_735-475del	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ACAP3_chr1_1287391_1312930	1288997	TCCCGTGT others(353): Show TCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCCC GTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCCC CGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0210 a0001c0001t0005g0210	1	295	0.0034	-360	c.42 others(11): Show c.4207_*4566del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3393		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1297374	CGTGTGTG others(353): Show CGTGTGTGTGTGCACAGGCACGGGGCAGGGGCCATCCCCAGTGGCACGTG TGTGTGTGCACAGGCGCGGGGCAGGGGCCATCCCCGGTGGCACATGTGTG CACGGGCTTGGGGCAGGGGCCATCCCCGGTGGCACGTGTGTGTGTGCACA GGCGCGGGGCAGGGGCCATCCCCGGTGGCACGTGTGTGTGTGCACGGGCT TGGGGCAGGGGCCATCCCCGGTGGCACGTGTGTGTGTGCACAGGCACGGG GCAGGGGCCATCCCCAGTGGCACGTGTGTGTGTGCACAGGCGCGGGGCAG GGGCCATCCCCGGTGGCACGTGTGCACGGGCACGGGGCAGGGGCCATCCC CGGTGGCACGT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01109.hp2 HG01346.hp1 others(42): Show HG00544.hp1 HG01109.hp2 HG01346.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02132.hp2 HG02155.hp1 HG02165.hp1 HG02280.hp2 HG02559.hp1 HG02602.hp2 HG02630.hp1 HG02698.hp1 HG02723.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG03130.hp2 HG03453.hp2 HG03471.hp2 HG03490.hp2 HG03492.hp1 HG03540.hp1 HG04115.hp2 NA18612.hp2 NA18906.hp1 NA18948.hp1 NA18956.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18970.hp1 NA18983.hp1 NA19005.hp1 NA19009.hp1 NA19067.hp1 NA19070.hp1 NA19077.hp1 NA19088.hp2 NA20905.hp2	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0021 a0005c0018 a0007c0017	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0005t0002 a0001c0021t0001 a0005c0018t0006 a0007c0017t0001	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0023 others(38): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0006g0053 a0001c0002t0001g0021 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0090 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0097 a0001c0002t0001g0106 a0001c0002t0002g0091 a0001c0002t0002g0095 a0001c0002t0006g0096 a0001c0005t0002g0022 a0001c0005t0002g0089 a0001c0021t0001g0085 a0005c0018t0006g0078 a0007c0017t0001g0083	45	295	0.1525	-360	c.112 others(16): Show c.1128+88_1128+447del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding	14/23			chr1	TogoVar
ADARB2_chr10_1172313_1742525	1236965	TCTCCCTC others(353): Show TCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTC TGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTG CCTCCGGTGGTTAATTCCCTCTTGCCTCCGGTGGTTAACTCCCCCCTGCC TCCGGTTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTCTCCCTC CGGGTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTCTCCCTCCG GTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCCTCCCGG TGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTG TTTACTCCCCC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0032 a0001c0003t0032	a0001c0003t0032g0071 a0001c0003t0032g0071	1	106	0.0094	-360	c.136 others(19): Show c.1362-3480_1362-3121del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1236992	GCCTCCCG others(353): Show GCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGC CTCCCGGTGTTTACTCCCCTCTGCCTCCGGTGGTTAATTCCCTCTTGCCT CCGGTGGTTAACTCCCCCCTGCCTCCGGTTGTTAACTCCCCCCTGCCTCC GGGTGTTAACTCCCCTCTCCCTCCGGGTGTTAACTCCCCCCTGCCTCCGG GTGTTAACTCCCCTCTCCCTCCGGTGTTTACTCCCCTCTGCCTCCCGGTG TTTACTCCCCTCTGCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGT TTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTT ACTCCCCTCTC	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0070 a0001c0003t0001g0070	1	106	0.0094	-360	c.136 others(19): Show c.1362-3507_1362-3148del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1237064	GCCTCCGG others(353): Show GCCTCCGGTGGTTAATTCCCTCTTGCCTCCGGTGGTTAACTCCCCCCTGC CTCCGGTTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTCTCCCT CCGGGTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTCTCCCTCC GGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCCTCCCG GTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGT GTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGT TTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTT ACTCCCCTCTC	G G	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0031 a0001c0001t0029g0031	1	106	0.0094	-360	c.136 others(19): Show c.1362-3579_1362-3220del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
AGO2_chr8_140515156_140640633	140622924	GGGGTCTC others(353): Show GGGGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCTCTTGGGGGAA TAATGCACATGGGGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCT CTTGGGGGAATAATGCACATGGGGTCTCCTCTTGGGGGAATAATGCACAT GGGGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCTCTTGGGGGAA TAATGCACATGGGGTCTCCTCTTGGGGGAATAATCCACATGGGGTCTCCT CTTGGGGGAATAATGCACATGGGGTCTCCTCTTGGGGTAATAATCCACAT GGGGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCTCTTGGGGGAA TAATGCACATA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01099.hp1 HG01169.hp1 others(11): Show HG01081.hp1 HG01099.hp1 HG01169.hp1 HG01257.hp1 HG01934.hp2 HG01952.hp1 HG02622.hp1 HG02735.hp2 HG02896.hp1 HG02897.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0043 a0001c0001t0066 others(8): Show a0001c0001t0001 a0001c0001t0043 a0001c0001t0066 a0001c0001t0067 a0001c0002t0002 a0001c0002t0096 a0001c0003t0014 a0001c0003t0033 a0001c0004t0005 a0001c0005t0019 a0001c0005t0024	a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0043g0121 others(11): Show a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0043g0121 a0001c0001t0066g0106 a0001c0001t0067g0105 a0001c0002t0002g0274 a0001c0002t0096g0067 a0001c0003t0014g0076 a0001c0003t0014g0077 a0001c0003t0033g0073 a0001c0004t0005g0277 a0001c0004t0005g0287 a0001c0005t0019g0107 a0001c0005t0024g0315	14	338	0.0414	-360	c.22+ others(17): Show c.22+12201_22+12560del	AGO2	ENSG00000123908.12	transcript	ENST00000220592.10	protein_coding	1/18			chr8	TogoVar
ARHGAP24_chr4_85470150_86007666	85875058	TTTGTTTT others(353): Show TTTGTTTTATATATTATATTATATATAATATATTTATCTTATATATTATA TTATATATAATATATTTATCTTATATATTATATTATATATAATATATTTA TCTTATATATTATATTATATATAATATATTTATCTTATATATTATATTAT ATATAATATATTTATCTTATATATTATATTATATATAATATATTTATCTT ATATATTATATTATATATAATATATTTATCTTATATATTATATTATATAT AATATATTTATCTTATATATTATATTATATATAATATATTTATCTTATAT ATTATATTATATATAATATATTTATCTTATATATTATATTATATATAATA TATTTATCTTA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02897.hp2 HG03471.hp1 others(2): Show HG02258.hp1 HG02897.hp2 HG03471.hp1 HG06807.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0008 a0001c0002t0002 a0001c0002t0008	a0001c0002t0002g0005 a0001c0002t0002g0041 a0001c0002t0002g0068 others(2): Show a0001c0002t0002g0005 a0001c0002t0002g0041 a0001c0002t0002g0068 a0001c0002t0008g0052 a0001c0002t0008g0053	5	108	0.0463	-360	c.269 others(19): Show c.269-48588_269-48229del	ARHGAP24	ENSG00000138639.18	transcript	ENST00000395184.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
BOP1_chr8_144257045_144296438	144281136	AGGCCTTC others(353): Show AGGCCTTCTCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCACTTTCAT ACCAGGTCTTTGGCCTTCTCTCAGTTTAATACCAGGTCTTCGGCCTTCCC TCAGTTTAATACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGTCTT CGGCCTTCCCTCACTTTCATACCAGGTCTTTGGCCTTCTCTCAGTTTAAT ACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTCCC TCAGTTTAATACCAGGTCTTCGGCCTTCTCTCACTTTCATACCAGGTCTT TGGCCTTCTCTCAGTTTAATACCAGGTCTTCGGCCTTCTCTCACTTTCAT ACCAGGTCTTT	A A	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	398	0.0025	-360	c.310 others(17): Show c.310-5192_310-4833del	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BRF1_chr14_105204286_105306001	105271852	CGCCTGCA others(353): Show CGCCTGCAGTCACGGTGTCCACGCACAAGGCCAAGCTGCACACCGCTGAG GGTCGGCGGCCTCCCCGCCCACCGCCTGCAGTCACGGTGTCCACGCACAA GGCCAAGCTGCACACCGCTGAGGGTCGGCGGCCTCCCCGCCCACCGCCTG CAGTCACGGTGTCCACGCACAAGGCCAAGCTGCACACCGCTGAGGGTCGG CGGCCTCCCCGCCCACCGCCTGCAGTCACGGTGTCCACGCACAAGGCCAA GCTGCACACCGCTGAGGGTCGGGGGCCTCCTCGCCCACCGCCTGCGGTCA CGGTGTCCACACACAAGGCCAAGCTGCACACCGCTGAGGGTCGGCGGCCT CCCCACCCACG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01109.hp2 HG01123.hp1 others(5): Show HG00323.hp2 HG01109.hp2 HG01123.hp1 HG01175.hp2 HG01928.hp1 HG03516.hp1 HG03834.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 others(5): Show a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0002g0057	8	72	0.1111	-360	c.439 others(15): Show c.439+509_439+868del	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	3/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105271884	AAGCTGCA others(353): Show AAGCTGCACACCGCTGAGGGTCGGCGGCCTCCCCGCCCACCGCCTGCAGT CACGGTGTCCACGCACAAGGCCAAGCTGCACACCGCTGAGGGTCGGCGGC CTCCCCGCCCACCGCCTGCAGTCACGGTGTCCACGCACAAGGCCAAGCTG CACACCGCTGAGGGTCGGCGGCCTCCCCGCCCACCGCCTGCAGTCACGGT GTCCACGCACAAGGCCAAGCTGCACACCGCTGAGGGTCGGGGGCCTCCTC GCCCACCGCCTGCGGTCACGGTGTCCACACACAAGGCCAAGCTGCACACC GCTGAGGGTCGGCGGCCTCCCCACCCACGGCCTGCAGTCACGGTATCCAC GCACAAGGCCG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02257.hp1 HG02970.hp1 others(1): Show HG02055.hp1 HG02257.hp1 HG02970.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0066 a0001c0001t0002g0067 others(1): Show a0001c0001t0002g0049 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068	4	72	0.0556	-360	c.439 others(15): Show c.439+477_439+836del	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	3/17			chr14	TogoVar
BRSK2_chr11_1384934_1467689	1412157	CAGCTGCG others(353): Show CAGCTGCGCCGCCCCGTCCTGCGGTGGGTGGAGTCTGAGCTGCGCCGCCC CGTCCTGCGGTGGGTGGAGTCTCAGCTGCGCCGCCCCGTCCTGCGGTGGG TGGAGTCTCAGCTGCGCCGCCCCGTCCTGCGGTGGGTGGAGTCTCAGCTG CGCCGCCCCGTCCTGCGGTGGGTGGAGTCTCAGCTGCGCCGCCCCGTCCT GCGGTGGGTGGAGTCTCAGCTGCGCCGCCCCGTCCTGCGGTGGGTGGAGT CTGAGCTGCGCTGCCCCGTCCTGCGGTGGGTGGAGTCTCAGCTGCGCCGC CCCGTCCTGTGGTGGGTGGAGTCTCAGCTGTGCTGCCCCGTCCTGTGATT GGTGAACTCTG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp2 HG00741.hp1 others(68): Show HG00323.hp2 HG00639.hp2 HG00741.hp1 HG01069.hp1 HG01081.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02055.hp2 HG02145.hp1 HG02155.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02602.hp1 HG02630.hp2 HG02683.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03942.hp2 HG04115.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18980.hp2 NA19012.hp1 NA19067.hp1 NA19088.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0006 others(4): Show a0001c0001 a0001c0003 a0001c0006 a0001c0016 a0002c0002 a0002c0008 a0003c0014	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(30): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0013 a0001c0001t0018 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0036 a0001c0001t0042 a0001c0001t0044 a0001c0001t0048 a0001c0001t0057 a0001c0001t0059 a0001c0001t0060 a0001c0001t0068 a0001c0001t0074 a0001c0001t0076 a0001c0001t0078 a0001c0003t0003 a0001c0006t0001 a0001c0006t0027 a0001c0016t0018 a0002c0002t0002 a0002c0002t0005 a0002c0002t0013 a0002c0002t0015 a0002c0002t0019 a0002c0008t0002 a0002c0008t0005 a0003c0014t0002	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(67): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0113 a0001c0001t0001g0154 a0001c0001t0001g0168 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0317 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0227 a0001c0001t0003g0241 a0001c0001t0003g0288 a0001c0001t0004g0161 a0001c0001t0004g0172 a0001c0001t0004g0175 a0001c0001t0004g0177 a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0185 a0001c0001t0004g0190 a0001c0001t0004g0314 a0001c0001t0004g0316 a0001c0001t0006g0215 a0001c0001t0006g0218 a0001c0001t0006g0251 a0001c0001t0011g0303 a0001c0001t0013g0022 a0001c0001t0013g0311 a0001c0001t0018g0137 a0001c0001t0021g0206 a0001c0001t0021g0221 a0001c0001t0021g0242 a0001c0001t0024g0292 a0001c0001t0025g0143 a0001c0001t0036g0300 a0001c0001t0042g0160 a0001c0001t0044g0016 a0001c0001t0048g0342 a0001c0001t0057g0184 a0001c0001t0059g0041 a0001c0001t0060g0163 a0001c0001t0068g0243 a0001c0001t0074g0213 a0001c0001t0076g0182 a0001c0001t0078g0205 a0001c0003t0003g0291 a0001c0006t0001g0047 a0001c0006t0027g0142 a0001c0016t0018g0183 a0002c0002t0002g0176 a0002c0002t0002g0318 a0002c0002t0005g0216 a0002c0002t0005g0250 a0002c0002t0013g0001 a0002c0002t0015g0330 a0002c0002t0019g0021 a0002c0002t0019g0042 a0002c0002t0019g0043 a0002c0008t0002g0326 a0002c0008t0005g0278 a0003c0014t0002g0319	71	360	0.1972	-360	c.91+ others(17): Show c.91+21788_91+22147del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C1orf159_chr1_1076823_1121089	1077361	CGGGAGGC others(353): Show CGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGG GACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTG AGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGG GGGGAGGCTGAGTCTATGGGGACTCCGTGCCGAGAGGCTGAGTCTATGGG GACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTG AGTCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTTG GGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGG GACTCCGTGCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0285 a0001c0001t0003g0285	1	326	0.0031	-360	c.51 others(11): Show c.5172_*5531del	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		4461		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1077571	CGGGAGGC others(353): Show CGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGG GACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTG AGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTGC GGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGG GACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTG AGGCTACGGGGACTCCGTGCGGGGAGGCTGAGGCTACGGGGACTCCGTTG GGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGG GACTCCGTGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	326	0.0031	-360	c.49 others(11): Show c.4962_*5321del	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		4251		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078595	AGGCTGAG others(353): Show AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGC TATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGG AGGCTGAGGCTATGGGCACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGAGGGGTGGCTGAGGC TATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGG AGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTATGGGGACT CCGTGCGGGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	326	0.0031	-360	c.39 others(11): Show c.3938_*4297del	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3227		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078650	GGGGGAGG others(353): Show GGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGG GGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCT GAGGCTATGGGCACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTG GGGGGAGGCTGAGGCTATGGGGACTCCGTGAGGGGTGGCTGAGGCTATGG GGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCT GAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTCCGTG CGGGGTGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGG GGACTCCGTGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG01934.hp2 HG01952.hp1 others(3): Show HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01978.hp2 HG02293.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0094 a0001c0001t0001g0103 others(3): Show a0001c0001t0001g0050 a0001c0001t0001g0094 a0001c0001t0001g0103 a0001c0001t0001g0187 a0001c0001t0001g0217 a0001c0001t0001g0222	6	326	0.0184	-360	c.38 others(11): Show c.3883_*4242del	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3172		chr1	TogoVar
CLIC4_chr1_24740447_24849321	24799956	TGGGAGGT others(353): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCTGCCCGGCCAGCTGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACC CCGTCCGGGGGGGGGGGTCAGCCCCCCCACCTGGCCAGCCGCCCCGTCTG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCG	T T	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0181 a0001c0001t0002g0181	1	344	0.0029	-360	c.182 others(17): Show c.182+2107_182+2466del	CLIC4	ENSG00000169504.15	transcript	ENST00000374379.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNTN4_chr3_2093866_3062959	2427648	ATCTGTCT others(353): Show ATCTGTCTAATATTGACAGTGGGGTGTTAAAGTCTCCCATTATTATTGTG TGGATGTCTAAGTCTCTTTGTAGGTCTTTAAGGACTTGCTTTATGAATCT GGGTGCTCCTGTATTGGGTGCACATATATTTAGGATAGTTAGCTCTTCTT GTTGAATTGATCCCTTTACCATATGTAATGGCCTTCTTTGTCGCTTCTGA TCTTTGTTGGTTTAAAGTCTGTTTTATCAGAGACTAAGATTGCAACCCCT GCCTTTTTTTGTTTTCCATTTGCTTGGCAGATCTTCCTCCATCCCTTTAT TTTGAGCCTATGTGTGTCTCTTCACGTGAGATGGGTGTCCTAAATACAGC ACACTGACAGG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp2 HG03453.hp2 HG01884.hp2 HG02258.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0007 a0001c0001 a0001c0006 a0001c0007	a0001c0001t0009 a0001c0006t0002 a0001c0007t0003 a0001c0001t0009 a0001c0006t0002 a0001c0007t0003	a0001c0001t0009g0052 a0001c0006t0002g0060 a0001c0007t0003g0034 a0001c0001t0009g0052 a0001c0006t0002g0060 a0001c0007t0003g0034	3	116	0.0259	-360	c.-89 others(19): Show c.-89+88419_-89+88778del	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CROCC2_chr2_240901336_240998311	240977321	TCTCTGGG others(353): Show TCTCTGGGGTAGGAGCCTCAGGAGCCCAGACTCATCCCTGCTCAGTCTCT GGGGTAGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGT AGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAG CCTCAGGATCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCA GGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGC CCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAGG CTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCAT CCCTGCTCAAG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00558.hp1 others(14): Show HG00140.hp2 HG00423.hp2 HG00558.hp1 HG00733.hp2 HG00741.hp2 HG01109.hp2 HG01261.hp1 HG01891.hp1 HG01952.hp2 HG02056.hp2 HG02071.hp2 HG02683.hp1 HG03139.hp1 NA18945.hp2 NA18977.hp1 NA18983.hp2 NA19070.hp2	a0002 a0003 a0006 others(2): Show a0002 a0003 a0006 a0010 a0013	a0002c0002 a0002c0011 a0002c0070 others(4): Show a0002c0002 a0002c0011 a0002c0070 a0003c0003 a0006c0007 a0010c0009 a0013c0075	a0002c0002t0001 a0002c0011t0002 a0002c0070t0001 others(6): Show a0002c0002t0001 a0002c0011t0002 a0002c0070t0001 a0003c0003t0001 a0003c0003t0002 a0006c0007t0001 a0010c0009t0001 a0010c0009t0002 a0013c0075t0001	a0002c0002t0001g0060 a0002c0002t0001g0183 a0002c0011t0002g0305 others(14): Show a0002c0002t0001g0060 a0002c0002t0001g0183 a0002c0011t0002g0305 a0002c0011t0002g0324 a0002c0011t0002g0332 a0002c0070t0001g0188 a0003c0003t0001g0049 a0003c0003t0001g0149 a0003c0003t0002g0256 a0006c0007t0001g0193 a0006c0007t0001g0194 a0006c0007t0001g0204 a0010c0009t0001g0051 a0010c0009t0001g0090 a0010c0009t0001g0101 a0010c0009t0002g0290 a0013c0075t0001g0178	17	350	0.0486	-360	c.440 others(19): Show c.4402-5530_4402-5171del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240977659	GCCCAGGC others(353): Show GCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGAGCCCA GGCTCATCCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGAGCCCAGACTC ATCCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCC TGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTC AGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAAGCT CTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGG GTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGG AGCCTCAGGAT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0024 a0024	a0024c0077 a0024c0077	a0024c0077t0001 a0024c0077t0001	a0024c0077t0001g0111 a0024c0077t0001g0111	1	350	0.0029	-360	c.440 others(19): Show c.4402-5200_4402-4841del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240979256	TCTCTGGG others(353): Show TCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAAGCTCT GGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAAGCTCTGGGGT AGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAG CCTCAGGAGCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCA GGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGC CCAGGCTCATCCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGAGCCCAGG CTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCAT CCCTGCTCAGG	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0054 a0054	a0054c0036 a0054c0036	a0054c0036t0001 a0054c0036t0001	a0054c0036t0001g0231 a0054c0036t0001g0231	1	350	0.0029	-360	c.440 others(19): Show c.4402-3601_4402-3242del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240980021	GCTCTGGG others(353): Show GCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCT GGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGT AGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAG CCTCAGGAGCCCAGACTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCA GGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGC CCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCTGGAGCCCAGG CTCATCCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCAT CCCTGCTCAGT	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG00609.hp1 others(33): Show HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp2 HG00738.hp1 HG01175.hp2 HG01192.hp2 HG01952.hp1 HG02004.hp2 HG02129.hp1 HG02300.hp2 HG02735.hp2 HG03688.hp1 HG03831.hp2 HG04115.hp2 HG04199.hp2 NA18612.hp1 NA18612.hp2 NA18952.hp1 NA18960.hp2 NA18965.hp1 NA18971.hp2 NA18984.hp1 NA18986.hp2 NA18998.hp2 NA19005.hp1 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19065.hp1 NA19070.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19087.hp1	a0001 a0005 a0007 others(5): Show a0001 a0005 a0007 a0009 a0011 a0022 a0029 a0040	a0001c0001 a0001c0022 a0001c0067 others(8): Show a0001c0001 a0001c0022 a0001c0067 a0005c0005 a0007c0006 a0009c0010 a0011c0044 a0011c0080 a0022c0038 a0029c0049 a0040c0057	a0001c0001t0001 a0001c0001t0002 a0001c0022t0002 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0022t0002 a0001c0067t0002 a0005c0005t0001 a0005c0005t0002 a0007c0006t0001 a0007c0006t0009 a0009c0010t0001 a0011c0044t0002 a0011c0080t0001 a0022c0038t0001 a0029c0049t0001 a0040c0057t0002	a0001c0001t0001g0058 a0001c0001t0001g0082 a0001c0001t0001g0084 others(33): Show a0001c0001t0001g0058 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0191 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0277 a0001c0001t0002g0288 a0001c0001t0002g0308 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0315 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0022t0002g0322 a0001c0067t0002g0287 a0005c0005t0001g0016 a0005c0005t0001g0075 a0005c0005t0001g0138 a0005c0005t0002g0321 a0007c0006t0001g0013 a0007c0006t0001g0085 a0007c0006t0001g0086 a0007c0006t0001g0088 a0007c0006t0001g0099 a0007c0006t0009g0102 a0009c0010t0001g0115 a0009c0010t0001g0200 a0011c0044t0002g0317 a0011c0080t0001g0142 a0022c0038t0001g0050 a0029c0049t0001g0198 a0040c0057t0002g0335	36	350	0.1029	-360	c.440 others(19): Show c.4402-2836_4402-2477del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTDP1_chr18_79674803_79759503	79739761	TTCATACC others(353): Show TTCATACCCGCCGCCAGGACGGGTGGGACTCTCATACCCACGGCCGGGAC GGGTGGGACTCTCATACCCACGGCCGGGACGGGTGGGACTCTCATACCCA CGGCCGGGACGGGTGGGACTCTCATACCCACGGCCGGGACGGGTGGGACT CTCATACCCACGGCCGGGACGGGTGGGACTCTCATACCCACGGCCGGGAC GGGTGGGACTCTCATACCCACGGCCGGGACGGGTGGGACTCTCATACCCA CGGCCGGGACGGGTGGGACTCTCATACCCACGGCCGGGACGGGTGGGACT CTCATACCCACGGCCGGGACGGGTGGGACTCTCATACCCACGGCCGGGAC GGGTGGGACTC	T T	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02976.hp1 HG03579.hp1 HG02970.hp2 HG02976.hp1 HG03579.hp1	a0001 a0001	a0001c0014 a0001c0036 a0001c0014 a0001c0036	a0001c0014t0001 a0001c0036t0001 a0001c0014t0001 a0001c0036t0001	a0001c0014t0001g0011 a0001c0014t0001g0012 a0001c0036t0001g0013 a0001c0014t0001g0011 a0001c0014t0001g0012 a0001c0036t0001g0013	3	378	0.0079	-360	c.274 others(19): Show c.2747+3249_2747+3608del	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79739776	AGGACGGG others(353): Show AGGACGGGTGGGACTCTCATACCCACGGCCGGGACGGGTGGGACTCTCAT ACCCACGGCCGGGACGGGTGGGACTCTCATACCCACGGCCGGGACGGGTG GGACTCTCATACCCACGGCCGGGACGGGTGGGACTCTCATACCCACGGCC GGGACGGGTGGGACTCTCATACCCACGGCCGGGACGGGTGGGACTCTCAT ACCCACGGCCGGGACGGGTGGGACTCTCATACCCACGGCCGGGACGGGTG GGACTCTCATACCCACGGCCGGGACGGGTGGGACTCTCATACCCACGGCC GGGACGGGTGGGACTCTCATACCCACGGCCGGGACGGGTGGGACTCTCAT ACCCACGGCCG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00733.hp2 HG00735.hp1 others(37): Show HG00140.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01099.hp1 HG01192.hp1 HG01192.hp2 HG01516.hp1 HG01517.hp1 HG01943.hp1 HG01975.hp2 HG01981.hp2 HG02080.hp1 HG02165.hp2 HG02451.hp1 HG02559.hp1 HG02647.hp1 HG02698.hp2 HG02738.hp2 HG02922.hp1 HG03017.hp1 HG03195.hp1 HG03225.hp2 HG03471.hp2 HG03516.hp2 HG03540.hp1 HG03654.hp2 HG03669.hp1 NA18612.hp1 NA18939.hp2 NA18960.hp1 NA18977.hp1 NA18977.hp2 NA18993.hp2 NA18995.hp2 NA19079.hp2 NA20129.hp2	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0006 a0007 a0018	a0001c0001 a0001c0003 a0001c0022 others(6): Show a0001c0001 a0001c0003 a0001c0022 a0002c0002 a0005c0015 a0005c0024 a0006c0010 a0007c0019 a0018c0038	a0001c0001t0002 a0001c0003t0001 a0001c0022t0001 others(7): Show a0001c0001t0002 a0001c0003t0001 a0001c0022t0001 a0002c0002t0001 a0002c0002t0016 a0005c0015t0005 a0005c0024t0001 a0006c0010t0001 a0007c0019t0001 a0018c0038t0001	a0001c0001t0002g0160 a0001c0003t0001g0066 a0001c0022t0001g0344 others(37): Show a0001c0001t0002g0160 a0001c0003t0001g0066 a0001c0022t0001g0344 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0219 a0002c0002t0001g0241 a0002c0002t0001g0252 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0264 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0286 a0002c0002t0001g0288 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0291 a0002c0002t0001g0298 a0002c0002t0001g0303 a0002c0002t0001g0329 a0002c0002t0016g0299 a0005c0015t0005g0369 a0005c0024t0001g0371 a0006c0010t0001g0254 a0006c0010t0001g0259 a0006c0010t0001g0260 a0006c0010t0001g0263 a0006c0010t0001g0265 a0007c0019t0001g0300 a0007c0019t0001g0301 a0018c0038t0001g0285	40	378	0.1058	-360	c.274 others(19): Show c.2747+3331_2747+3690del	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTTNBP2_chr7_117705651_117878441	117878081	AAAATCAC others(353): Show AAAATCACCTGGAAATGTGATGACATTATTTGAAAATATAAAAATATATA TAGTAGGGGCTGTTCAATTAACCAATAAGTATACAATATAATTTAATTTA TAATATTTATAAAACAATGTCATGGCTAGACTTGAAGGATTAATTTATTT CACTTGATTCAAGAACTGAAGGGAAAAAAATGCGTTGGTATTGCTATTTT CATTCTGGGGAAGGTGAAGTTACTTGTAGAATAATAAGGAAAAATACTTC TAACACACCATCATTAAGGTTTAAGCAGCTTGAAATGTTTTATTCTGGCA ATTAAAGAAAAATTTAACTACTGAAAATGTTTTATGCTAGCAATACAATA AATATTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 NA20300.hp2 HG02895.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0005 a0001c0007t0001g0011 a0001c0001t0001g0005 a0001c0007t0001g0011	2	164	0.0122	-360	c.-50 others(11): Show c.-5026_-4667del	CTTNBP2	ENSG00000077063.11	transcript	ENST00000160373.8	protein_coding		4641		chr7	TogoVar
CYP4F11_chr19_15907377_15939529	15931525	CAGAGGAA others(353): Show CAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGAGGAGAGGAATG AGTGAGCGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAG GAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATG AGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGG	C C	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA19063.hp2 NA18947.hp2 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0004 a0001c0002t0003g0004	2	386	0.0052	-360	c.199 others(17): Show c.199-2284_199-1925del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931981	TGAGGAGA others(353): Show TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGG AATGAGTGAGCGGGGAGAGGAATGAGTGAGTGGGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGG AATGAGTGAGC	T T	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0257 a0001c0002t0009g0257	1	386	0.0026	-360	c.198 others(17): Show c.198+1870_198+2229del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932201	CGAGGAGA others(353): Show CGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGGGGAGAGG AATGAGTGAGTGGGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG CGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGG AATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGGGGAGAGG AATGAGTGAGCGGGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAG AATGAGTGAGT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0266 a0002c0001t0004g0266	1	386	0.0026	-360	c.198 others(17): Show c.198+1650_198+2009del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933505	GAGAAGAA others(353): Show GAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGCAGAGGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGC	G G	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0008 a0001c0002t0017g0008	1	386	0.0026	-360	c.198 others(15): Show c.198+346_198+705del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
DEFB109B_chr8_7307722_7325096	7322858	GAGTCCCT others(353): Show GAGTCCCTTTGGAGGCAAGAATCTCTTTATACCAGCATGGTATACTGATG AAGTACATCCTGATCTCATGGGCTAAGAAAGAATTTATACATACCCTTTA TGTGTCAGCAACTCTATGTGCAGGCTTTTGAGACCCAGAATGGGCTTTCT TGCCCCATCTAGTCTATGTAACATTTTTCTAAGCCAACTCAATGTCTTTC ATCCACACTGGGATAGGTCCTAAATTGCTGTCTGTTGCCCACCTGAGATA ATGACATGTTGTTAAATCAGGTGTGTGTGACCCTGATACGTCTATCTGAG TGGCAGGAGAGGGTCTATCTGTTCACAAGAGTCTCTGCAACATTTTCTAA GTCAGTTCAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02280.hp1 HG02572.hp1 others(5): Show HG02145.hp1 HG02280.hp1 HG02572.hp1 HG02897.hp2 HG03098.hp2 HG03486.hp1 HG06807.hp1 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0009 a0001c0003t0002g0040 a0001c0003t0002g0041 a0001c0003t0002g0009 a0001c0003t0002g0040 a0001c0003t0002g0041	8	377	0.0212	-360	c.29 others(11): Show c.2908_*3267del	DEFB109B	ENSG00000206034.2	transcript	ENST00000382656.2	protein_coding		2763		chr8	TogoVar
DHRS12_chr13_51762993_51809163	51774698	AGTATTCT others(353): Show AGTATTCTACTACATGTATTCTCCTACAGTACATGTATTCTCCTACAGTA TTCTCCTACAGTATTCTCCTACATGTATTCTCCTACAGTATTCTCCTACA GTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTCCTAC ATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTA CAGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTA CATGTATTCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTCCT ACAGTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACATG TATTCTCCTAC	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0209 a0002c0002t0003g0209	1	420	0.0024	-360	c.364 others(16): Show c.364-1024_364-665del	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DVL1_chr1_1330278_1354418	1350921	GGGGCAGG others(353): Show GGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAG CGACGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGG AGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGAGGAGG GGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGAC GGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCTGGAG CGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGG AGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGG GGGCCTGGACC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG03130.hp1 HG02896.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0003 a0001c0012t0003 a0001c0001t0003 a0001c0012t0003	a0001c0001t0003g0052 a0001c0012t0003g0051 a0001c0001t0003g0052 a0001c0012t0003g0051	2	344	0.0058	-360	c.-22 others(11): Show c.-2216_-1857del	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		1504		chr1	TogoVar
ERICH1_chr8_659200_736224	676116	TGAGGACA others(353): Show TGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGCCC CCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCG GCGGCCCCTCGGCGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAG ACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGA CAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGT GAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCC TCGGCGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGC GGCCCCTCGGC	T T	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	378	0.0027	-360	c.305 others(17): Show c.305-2429_305-2070del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
EXOC2_chr6_480154_698139	601195	TCCCCTTG others(353): Show TCCCCTTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTA CGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACA CACATTCTCACACCAAGAACACCCCGTCTGCGAATCCACACACATTCTCA CACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAAC ACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTG CGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACA CACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCA CACCAAGAACA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0200 a0001c0020t0001g0200	1	272	0.0037	-360	c.743 others(17): Show c.743-2330_743-1971del	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27			chr6	TogoVar
EXOC2_chr6_480154_698139	601244	ACGAATCC others(353): Show ACGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCAC ACACATTCTCACACCAAGAACACCCCGTCTGCGAATCCACACACATTCTC ACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAA CACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGT GCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCAC ACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTC ACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAA CACCCCGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	272	0.0037	-360	c.743 others(17): Show c.743-2379_743-2020del	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27			chr6	TogoVar
EXOC3L4_chr14_103089725_103115559	103109174	GGTCTCCC others(353): Show GGTCTCCCTCTCTCCCTCGCCACCCTGTCCCCATGTCTCCCTCCCTCCCT CCCTCTCCACCCTGTCCCCGTGTCTCCCTCCCTCCCTCCCTCTCCACCCT GTCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTC CCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCT CTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCC CATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCT CCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCAC CCTGTCCCCAT	G G	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0212 a0005c0004t0001g0212	1	404	0.0025	-360	c.197 others(17): Show c.1976+667_1977-488del	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
GAL3ST2_chr2_241771822_241809287	241805941	CTCCCCCC others(353): Show CTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGAC CTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCT TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCC GCAGGCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0234 a0003c0003t0001g0234	1	314	0.0032	-360	c.17 others(11): Show c.1776_*2135del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1655		chr2	TogoVar
GIP_chr17_48953554_48973596	48959733	AACAGGAT others(353): Show AACAGGATGGGCTCAGCTCTGTGTGTAGGGACAGGCAGGACACAGGATGG GCTCAGCTCGGTGGGTAGGGACAGGCGGGACACAGGATGGGCTCAGCTCG GTGGGTAGGGACAGGCAGGCCACAGGATGGGCTCAGCTCTGTGTGTAGGG ACAGGCAGGCCACAGGATGGGCTCAGCTCGGTGGGTAGGGACAGGCAGGC CACAGGATGGGCTCAGCTCGGTGGGTAGGGACAGGCGGGACACAGGATGG GCTCAGCTCGGTGGGTAGGGACAGGCAGGCCACAGGATGGGCTCAGCTCG GTGGGTAGGGACAGGCGGGCCACAGGATGGGCTCAGCTCTGTGTGTAGGG ACAGGCGGGAC	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0170 a0001c0001t0002g0170	1	406	0.0025	-360	c.452 others(16): Show c.452+793_453-1018del	GIP	ENSG00000159224.4	transcript	ENST00000357424.2	protein_coding	5/5			chr17	TogoVar
GIP_chr17_48953554_48973596	48959855	CAGGATGG others(353): Show CAGGATGGGCTCAGCTCTGTGTGTAGGGACAGGCAGGCCACAGGATGGGC TCAGCTCGGTGGGTAGGGACAGGCAGGCCACAGGATGGGCTCAGCTCGGT GGGTAGGGACAGGCGGGACACAGGATGGGCTCAGCTCGGTGGGTAGGGAC AGGCAGGCCACAGGATGGGCTCAGCTCGGTGGGTAGGGACAGGCGGGCCA CAGGATGGGCTCAGCTCTGTGTGTAGGGACAGGCGGGACACAGGATGGGC TCAGCTCGGTGGGTAGGGACAGGCGGGACACAGGATGGGCTCAGCTCGGT GGGTAGGGACAGGCAGGCCACAGGATGGGCTCAGCTCGGTGGGTAGGGAC AGGCGGGACAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(131): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00609.hp2 HG00642.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02165.hp2 HG02257.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02647.hp2 HG02683.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18964.hp2 NA18969.hp1 NA18971.hp1 NA18972.hp1 NA18975.hp1 NA18980.hp1 NA18980.hp2 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18999.hp1 NA18999.hp2 NA19006.hp2 NA19011.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19058.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19077.hp2 NA19082.hp1 NA19084.hp1 NA19089.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0004c0004t0001	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0045 others(60): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0045 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0193 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0144 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0003g0012 a0001c0001t0003g0018 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0047 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0004g0046 a0004c0004t0001g0194	134	406	0.3301	-360	c.452 others(16): Show c.452+671_452+1030del	GIP	ENSG00000159224.4	transcript	ENST00000357424.2	protein_coding	5/5			chr17	TogoVar
GOLGA3_chr12_132763914_132833869	132793003	GACCGCAC others(353): Show GACCGCACGGGACCCGCACTCGGAGGGCTCCACACAGACCCACCGCACGG GACCCGCACTCGGAGGGCTCCACACAGACCCACCCCACGGGACCCGCACT CGGAGGGCTCCACACAGACCCACCGCACGGGACCCGCACTCGGAGGGCTC CACACAGACCCACCGCACGGGACCCGCACTCGGAGGGCTCCACACAGACC CACCGCACGGGACCCGCACTCGGAGGGCTCCACACTGACCCACCGCACGG GACCCGCACTCGGAGGGCTCCACACAGACCCACCGCACGGGACCCGCACT CGGAGGGCTCCACACAGACCCACCGCACGGGACCCGCACTCGGAGGGCTC CACACAGACCC	G G	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0018 a0005c0006t0018	a0005c0006t0018g0023 a0005c0006t0018g0023	1	308	0.0033	-360	c.247 others(19): Show c.2470-2070_2470-1711del	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	11/23			chr12	TogoVar
KCNG2_chr18_79792938_79905100	79808371	AAGCTGCC others(353): Show AAGCTGCCGGGGACACACTGACCACACTCCACGTTATGGGCCCAGAGTCC GCGCTCTGAGGAGCTGCCGGGGACACACTGACCACACTCCACGTTATGGG CCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGCCTCGCTGACCACACTCC ACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGACACACTG ACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGG GGCCTCGCTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAG AAGCTGCCGGGGACACACTGACCACACTCCACGTTATGGGCCCAGAGTCC GCGCTCTGAGG	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01106.hp1 HG01952.hp2 others(8): Show HG01074.hp2 HG01106.hp1 HG01952.hp2 HG02109.hp1 HG02132.hp2 HG02257.hp2 HG02486.hp2 HG02717.hp1 HG02818.hp1 HG03130.hp1 NA19010.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0007 a0002c0002 others(1): Show a0001c0001 a0001c0007 a0002c0002 a0003c0006	a0001c0001t0001 a0001c0007t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0007t0001 a0002c0002t0002 a0003c0006t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(8): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0021 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0007t0001g0082 a0001c0007t0001g0084 a0002c0002t0002g0069 a0002c0002t0002g0104 a0003c0006t0001g0071	11	312	0.0353	-360	c.-11 others(21): Show c.-115+10429_-115+10788del	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79808559	GGGGACAC others(353): Show GGGGACACACTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTG AGGAGCTGCCGGGGCCTCGCTGACCACACTCCACGTTATGGGCCCAGAGT CCGCGCTCTGAGAAGCTGCCGGGGACACACTGACCACACTCCACGTTATG GGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGACACACTGACCACACT CCACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGCCTCGC TGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCC GGGGACACACTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTG AGAAGCTGCCA	G G	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0103 a0002c0002t0002g0103	1	312	0.0032	-360	c.-11 others(21): Show c.-115+10657_-115+11016del	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79809045	TCGCTGAC others(353): Show TCGCTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGC TGCCGGGGCCTCGCTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGC TCTGAGGAGCTGCCGGGGCCGCGCTGACCACACTCCACGTTATGGGCCCA GAGTCCGCGCTCTGAGGAGCTGCCGGGGCCGCGCTGACCACACTCCACGT TATGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGACACACTGACCA CACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGAC ACACTGACCACACTCCACGTTATGGGCCCAGAGTCCTCGCTCTGAGGAGC TGCCGGGGACA	T T	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0102 a0002c0002t0002g0102	1	312	0.0032	-360	c.-11 others(21): Show c.-115+11033_-115+11392del	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
LMF1_chr16_848634_975984	953515	CCCAAACC others(353): Show CCCAAACCAGCCTCCTACATATCCACACAGACACCCCAAACCAGCCTCCT ACATATCCACACAGACACCCCAAACCAGCCTCCTACACGTCCACACAGAC ACCCACTCCAAACCAGCCTCCTACACGTCCACACAGACACCCCAAACCAG CCTCCTACATGTCCACACAGACACCCACCCCAAACCAGCCTCCTACATGT CCACACAGACACCCACCCCAAACCAGCCTCCTACATGTCCACACAGACAC CCACCCCAAACCAGCCTCCTACATGTCCACACAGACACCCACCCCAAACC AGCCTCCTACATGTCCACACAGACACCCACCCCAAACCAGCCTCCTACAC GTCCACACAGA	C C	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	294	0.0034	-360	c.503 others(15): Show c.503+482_503+841del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
MICAL3_chr22_17782649_18029561	17877009	TGGAGGTT others(353): Show TGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAG GTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTAT GGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGG TTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTATG GAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGT TAGGGAAGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGG AGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTT ATGGAGGTTAG	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0014 a0014	a0014c0026 a0014c0026	a0014c0026t0002 a0014c0026t0002	a0014c0026t0002g0002 a0014c0026t0002g0002	1	274	0.0037	-360	c.224 others(19): Show c.2242-5346_2242-4987del	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MRPS9_chr2_105033069_105104960	105054579	ACCCCTTT others(353): Show ACCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTAT CGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAA TATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCT TTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATT TTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGC GGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGT ATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTA AATATAGCGGG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0093 a0001c0002t0002g0093	1	394	0.0025	-360	c.315 others(17): Show c.315+5855_315+6214del	MRPS9	ENSG00000135972.9	transcript	ENST00000258455.8	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
MRPS9_chr2_105033069_105104960	105055205	CGCATTTT others(353): Show CGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAA TATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCT TTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATT TTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGC GGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGT ATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTA AATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCC CTTTTGGTATT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	394	0.0025	-360	c.315 others(17): Show c.315+5877_315+6236del	MRPS9	ENSG00000135972.9	transcript	ENST00000258455.8	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
MXRA8_chr1_1347691_1363555	1350921	GGGGCAGG others(353): Show GGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAG CGACGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGG AGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGAGGAGG GGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGAC GGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCTGGAG CGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGG AGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGG GGGCCTGGACC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG03130.hp2 HG02896.hp1 HG03130.hp2	a0002 a0002	a0002c0003 a0002c0005 a0002c0003 a0002c0005	a0002c0003t0004 a0002c0005t0004 a0002c0003t0004 a0002c0005t0004	a0002c0003t0004g0050 a0002c0005t0004g0049 a0002c0003t0004g0050 a0002c0005t0004g0049	2	338	0.0059	-360	c.23 others(11): Show c.2323_*2682del	MXRA8	ENSG00000162576.17	transcript	ENST00000309212.11	protein_coding		1769		chr1	TogoVar
MYT1L_chr2_1784113_2336275	1965130	GGGACCCA others(353): Show GGGACCCAGGCACTCTGTGACTTGCAGGGACCAGGCAGGGAAGAGGAGGA CCCAGGCACTCTGTGACTTGCAGGGATCAGGCAGGGAAGAGGAGGACCCA GGCACTCTGTGACTTGCAGGGACCAGGCAGGGAAGAGGGGGACCCAGACT CTGTGACTTGCAAGGATCAGGCAGGGAAGAGGAGGACCCAGACTCTGTGA CTTGCAGGGACCAGGCAGGGAAGAGGAGGACCCAGGCACTCTGTGACTTG CAGGGACCAGGCAGGGAAGAGGAGGACCCAGACTCTGTGACTTGCAGGGA CCAGGCAGGGAAGAGGAGGACTCAGACTCTGTGACTTGCAGGGACCAGGC AGGAAAGAGGA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG06807.hp2 HG02922.hp1 HG06807.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0011 a0001c0005t0011	a0001c0005t0011g0074 a0001c0005t0011g0095 a0001c0005t0011g0074 a0001c0005t0011g0095	2	104	0.0192	-360	c.152 others(19): Show c.152+13675_152+14034del	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	8/24			chr2	TogoVar

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Search Results (Total: 10000 hits)