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
OTUD7A_chr15_31470398_31875673	31511066	TATATATG others(377): Show TATATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACACACATATGTATATCTATATGTAACA CACATACATATGTATATCTATATGTAACACACATACATATGTATATCTAT ATGTAACACACATACATATGTATATCTATATGTAACACACATATATATGT ATATCTATATGTAACACACATATATATGTATATCTATATGTAACACACAT ATATATGTATATCTATATGTAACACATATATATGTATATCTATATGTAAC ACACACATATATGTATATCTATATGTAACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0026 a0001c0004t0010g0026	1	244	0.0041	-384	c.894 others(17): Show c.894-7632_894-7249del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
RIPK1_chr6_3063494_3120187	3093705	GCGCGCCT others(377): Show GCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCAC CTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCC TACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAA CCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGC CGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGC GCGCCTACCTGCCGCACCTAGTAACTGCAGAGCGCCTACCTGCCGCACCT AGTAACTGCAGCGCGCCTACCTGCCGCACCTAGTAACTGCAGCGCGCCTA CCTGCCGCACCTAGTAACTGCAGCGCGCCTACCTC	G G	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0293	1	340	0.0029	-384	c.915 others(17): Show c.915+4050_915+4433del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RNF213_chr17_80255852_80403794	80314073	GTGGTGGT others(377): Show GTGGTGGTGGAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGAA GGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGTAGGTGATGGTGG AGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGTAATGGAGGTGATGGTG GTGGTGAAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTAAAGGTGAT GGTGGAGGTACTGGAGGTGATGGTGGTGGACGTGATGGTGGAGGTAATGG AGGTGATGGTGGTGGTGGTGGTGGTGGAGGTACTGGAGGTGATGGCGGTC GTGGAGGTGATGGTGGAGGTAATGGAGGTGGTGGTGGTGGTGGTGGTGGA GGTACTGGAGGTGATGGTGGAGGTAATGGAGGTGA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03704.hp1 NA18980.hp1 HG01081.hp2 HG03704.hp1 NA18980.hp1	a0009 a0023 a0009 a0023	a0009c0016 a0009c0089 a0023c0087 a0009c0016 a0009c0089 a0023c0087	a0009c0016t0009 a0009c0089t0005 a0023c0087t0013 a0009c0016t0009 a0009c0089t0005 a0023c0087t0013	a0009c0016t0009g0103 a0009c0089t0005g0104 a0023c0087t0013g0213 a0009c0016t0009g0103 a0009c0089t0005g0104 a0023c0087t0013g0213	3	292	0.0103	-384	c.281 others(18): Show c.2811+915_2811+1298del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RWDD2B_chr21_28999384_29024349	29011802	TGGGAGGT others(377): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGTCA GCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAG CCCCCGACCCGGCCAGCCGCGCCGTCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCC GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGTGGTCAGCCCCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0226 a0001c0001t0004g0226	1	438	0.0023	-384	c.68- others(15): Show c.68-3565_68-3182del	RWDD2B	ENSG00000156253.7	transcript	ENST00000493196.2	protein_coding	1/4			chr21	TogoVar
S1PR4_chr19_3173769_3185332	3175402	CCTCATGG others(377): Show CCTCATGGGACACCTGTGCCCTCATGGGACGCCTGTGCCCTCATGGGACG CCTGCGTTCTCATGGGACGCCTGCATTCTCATGGGACGCCTGTGCCCTCA TGGGACACCTGTGTTCTCATGGGACACCTGTGTTCTCATGGGATGCCTGT GCCCTCATGGGATGCCTGTACCCCTCATGGGACGCCTGTGTTCTCATGGG ATGCCTGTACCCTCATGGGACGCCTGTACCCCTCATGGGACATCTGTGCT CTCATGGGATGCCTGTGCCCCTCATGGGATGCCTGTGCCCTCATGGGACG CCTGCATTCTCATGGGACACCTGTGCCCTCATGGGATGCCTGTACCCTCA TGGGACGCCTGTGCCCCTCATGGGATGCCTGTGTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG03139.hp1 NA21309.hp2 HG02976.hp2 HG03139.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	418	0.0072	-384	c.-33 others(11): Show c.-3390_-3007del	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		3366		chr19	TogoVar
SDHA_chr5_213320_262082	260428	CGCCAGAG others(377): Show CGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTG TGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTC ACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAG CTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAG CATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCC GCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGACAGAGCATT ACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCT CCCGACAGAGCATTACCGTGTGAGCTCCGCCTCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 NA20752.hp2 HG04204.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0061 a0001c0001t0002g0016 a0001c0001t0002g0061	2	266	0.0075	-384	c.40 others(11): Show c.4009_*4392del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		3347		chr5	TogoVar
SDHA_chr5_213320_262082	260688	AGAGCATT others(377): Show AGAGCATTACCGTGTGAGCTCCGCCTCCCGACAGAGCATTACCGTGTGAG CTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGACAGAG CATTACCGTGTGAGCTCCGCCTCCTGCCAGAGCATTACCGTGTGAGCTCC GCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCCGAGCATT ACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCC CCCGCCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTACCG TGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCG CCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0179 a0001c0001t0002g0179	1	266	0.0038	-384	c.42 others(11): Show c.4269_*4652del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		3607		chr5	TogoVar
SLC66A2_chr18_79897420_79956653	79919702	CAGGAACC others(377): Show CAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGG GAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGG TCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAG AGACAGGAACCGAGTGAGAGGTCAGGGTCAGTGAGGAGAGACAGGAACCG AGTGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCA AGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGTGGAG GAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAA CCGAGTGAGAGGTCAAGGTCAGTGGAGGAGAGACA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02615.hp2 HG02630.hp2 others(3): Show HG02559.hp1 HG02615.hp2 HG02630.hp2 HG02723.hp2 HG03453.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0013 a0001c0001t0008 a0001c0001t0013	a0001c0001t0008g0215 a0001c0001t0008g0224 a0001c0001t0013g0040 others(3): Show a0001c0001t0008g0215 a0001c0001t0008g0224 a0001c0001t0013g0040 a0001c0001t0013g0049 a0001c0001t0013g0059 a0001c0001t0013g0117	6	352	0.0171	-384	c.392 others(15): Show c.392-686_392-303del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
THEG_chr19_356747_381026	360563	AGCTGGTT others(377): Show AGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGGCCC TCAGGAGGAGCATCAGCTGGTTTGACTGTGGCTGTCGTTCCGACTCTGAC AGTCCCGTGGGCCCTCAGGAGGAGCGTCGGCTGGTTTGACTGTGGCTGTC GTTCCTACTCCGACGGTCCCGTGGCCCCTCAGCAAGAGCATCGGCTGGTT TGACTGTGGCTGTCGTTCCGACTCTGACGGTCCCGTGGGCTCTCAGGAGG AGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCCTACTCCGACGGTCCCGT GGCCCCTCAGCAGGAGCATCGGCTGGTTTGACTGTGGCTGTCGTTCCGAC TCCGACGGTCCCGTGGGCTCTCAGGAGGAGCGTCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0015 a0015	a0015c0028 a0015c0028	a0015c0028t0001 a0015c0028t0001	a0015c0028t0001g0335 a0015c0028t0001g0335	1	370	0.0027	-384	c.12 others(11): Show c.1253_*1636del	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1183		chr19	TogoVar
THEG_chr19_356747_381026	361400	GTTTGACT others(377): Show GTTTGACTGTGGCTGTCGTTCCTACTCCGACGGTCCCGTGGGCCCTCAGG AGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCC CGTGGCCCCTCAGCAGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCC GACTCCGACGGTCCCGTGGCCCCTCAGCAGGAGCGTCGGCTGGTTTGACT GTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGCCCCTCAGCAGGAGCGT CGGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGGCC CTCAGGAGGAGCGTCAGCTGCTTTGACTGTGGCTGTCGTTCCGACTCCGA CGGTCCCGTGGGCCCTCAGCAGGAGCGTCGGCTGC	G G	splice_region_variant splice_region_variant	LOW	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0021 a0001c0003t0021	a0001c0003t0021g0123 a0001c0003t0021g0123	1	370	0.0027	-384	c.41 others(9): Show c.416_*799del	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding	8/8			chr19	TogoVar
THEG_chr19_356747_381026	361449	GAGGAGCG others(377): Show GAGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTC CCGTGGCCCCTCAGCAGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTC CGACTCCGACGGTCCCGTGGCCCCTCAGCAGGAGCGTCGGCTGGTTTGAC TGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGCCCCTCAGCAGGAGCG TCGGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGGC CCTCAGGAGGAGCGTCAGCTGCTTTGACTGTGGCTGTCGTTCCGACTCCG ACGGTCCCGTGGGCCCTCAGCAGGAGCGTCGGCTGCTTTGACTGTGGCTG TCGTTCCGACTCCGACGGTCCCGTGGCCCCTCAGC	G G	splice_region_variant splice_region_variant	LOW	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0304 a0001c0001t0050g0304	1	370	0.0027	-384	c.36 others(9): Show c.367_*750del	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding	8/8			chr19	TogoVar
TUBGCP2_chr10_133273635_133313872	133291354	TCCGTGTC others(377): Show TCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCT GTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTG TCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGG GAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCG TGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGG GCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCC TCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCA TGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02717.hp2 HG01981.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0001 a0001c0015t0001 a0001c0001t0001 a0001c0015t0001	a0001c0001t0001g0118 a0001c0015t0001g0222 a0001c0001t0001g0118 a0001c0015t0001g0222	2	284	0.0070	-384	c.121 others(18): Show c.1214+761_1214+1144del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
VAV2_chr9_133756894_133997324	133827168	CCTACCGC others(377): Show CCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCATGGGCATCGCCAGC TACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTA CCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACT GCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTACCGC TGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACTGCTG TGCCCACTGAGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCG CCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTGTGCC CACTGGGGCTGACCACTGAGCACGGGCATCGCCAG	C C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0119 a0001c0003t0002g0119	1	200	0.0050	-384	c.449 others(17): Show c.449+6720_449+7103del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133827684	CGGGCATC others(377): Show CGGGCATCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACG GGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGG CATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCA TCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATC GCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCAC CACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCA CCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCACC TACCGCTGCGCCCACTGAGGCTGACCACTGAGTGG	C C	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0019 a0001c0023t0019	a0001c0023t0019g0138 a0001c0023t0019g0138	1	200	0.0050	-384	c.449 others(17): Show c.449+6204_449+6587del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133827706	CGCCCACT others(377): Show CGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACCGCTGCG CCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACCGCTGCGCC CACTGGGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCA CTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTGTGCCCACT GGGGCTGACCACTGAGCGGGGGCATCACCACCTACCGCTGCGCCCACTGG GGCTGACCACTGAGCACGGGCATCACCACCTACCGCTGCGCCCACTGGGG CTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGAGGCT GACCACTGAGTGGGGGCATCGCCAGCTACTGCTGT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA19240.hp1 HG02647.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0009 a0001c0003 a0001c0009	a0001c0003t0016 a0001c0009t0021 a0001c0003t0016 a0001c0009t0021	a0001c0003t0016g0054 a0001c0009t0021g0104 a0001c0003t0016g0054 a0001c0009t0021g0104	2	200	0.0100	-384	c.449 others(17): Show c.449+6182_449+6565del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133827732	CGGGCATC others(377): Show CGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACG GGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGG CATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCA TCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATC ACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCAC CACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCA CCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGC TACTGCTGTGCCCACTGGGGCTGACCACTGAGCGG	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0019 a0001c0002t0002g0019	1	200	0.0050	-384	c.449 others(17): Show c.449+6156_449+6539del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
XYLT2_chr17_50341126_50366185	50350142	TACTGCAC others(377): Show TACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAGTACCAGTACTTACTGAATGCTGTGCCTATGCCA AAAGCTTTGCATTCATTCATTCATTCATTCAAAAAATACTAAGGCCAGGC ACAGTGGCTTAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTTTGTG GATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAAC TCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCGAAC CTGTAATCCCGGCTACGTGGGAGGCTGAGGCACAAGAATCGCTTGAACCC AAGAGGCAGAGGTTGGAGTGAGCCGAGATTGCACC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(192): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp2 HG02293.hp2 HG02300.hp1 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19065.hp2 NA19067.hp2 NA19068.hp1 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19081.hp2 NA19082.hp1 NA19084.hp2 NA19085.hp1 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0012 a0015 a0017	a0001c0001 a0001c0003 a0001c0006 others(10): Show a0001c0001 a0001c0003 a0001c0006 a0001c0008 a0001c0010 a0001c0026 a0002c0002 a0002c0017 a0003c0004 a0004c0007 a0012c0022 a0015c0023 a0017c0018	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(24): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0015 a0001c0003t0002 a0001c0003t0003 a0001c0003t0006 a0001c0006t0001 a0001c0006t0007 a0001c0008t0001 a0001c0008t0007 a0001c0010t0001 a0001c0010t0007 a0001c0026t0001 a0002c0002t0001 a0002c0002t0007 a0002c0002t0018 a0002c0002t0019 a0002c0017t0001 a0003c0004t0002 a0004c0007t0005 a0004c0007t0010 a0012c0022t0010 a0015c0023t0001 a0017c0018t0001	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0015 others(63): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0038 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0004g0029 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0004g0058 a0001c0001t0005g0029 a0001c0001t0005g0030 a0001c0001t0005g0059 a0001c0001t0005g0060 a0001c0001t0007g0001 a0001c0001t0007g0013 a0001c0001t0007g0101 a0001c0001t0009g0001 a0001c0001t0015g0001 a0001c0003t0002g0088 a0001c0003t0003g0023 a0001c0003t0006g0023 a0001c0006t0001g0001 a0001c0006t0001g0086 a0001c0006t0007g0001 a0001c0006t0007g0090 a0001c0008t0001g0001 a0001c0008t0001g0098 a0001c0008t0007g0001 a0001c0010t0001g0001 a0001c0010t0001g0012 a0001c0010t0001g0076 a0001c0010t0007g0012 a0001c0026t0001g0001 a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0014 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0075 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0087 a0002c0002t0001g0089 a0002c0002t0001g0093 a0002c0002t0001g0099 a0002c0002t0007g0001 a0002c0002t0018g0001 a0002c0002t0019g0001 a0002c0017t0001g0094 a0003c0004t0002g0091 a0004c0007t0005g0006 a0004c0007t0010g0006 a0012c0022t0010g0006 a0015c0023t0001g0085 a0017c0018t0001g0001	195	360	0.5417	-384	c.136 others(17): Show c.136-3468_136-3085del	XYLT2	ENSG00000015532.10	transcript	ENST00000017003.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
XYLT2_chr17_50341126_50366185	50350164	CAGAGTGA others(377): Show CAGAGTGAGACTGCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGTACCA GTACTTACTGAATGCTGTGCCTATGCCAAAAGCTTTGCATTCATTCATTC ATTCATTCAAAAAATACTAAGGCCAGGCACAGTGGCTTAGGCCTGTAATC CCAGCACTTTGGGAGGCCAAGGTTTGTGGATCACTTGAGGTCAGGAGTTC GAGACCAGCCTGGCCAACATGGTGAAACTCTGTCTCTACTAAAAATACAA AAAATTAGCCAGGCATGGTGGTGCGAACCTGTAATCCCGGCTACGTGGGA GGCTGAGGCACAAGAATCGCTTGAACCCAAGAGGCAGAGGTTGGAGTGAG CCGAGATTGCACCACTGCACTCCAGCCTGGGCAAT	C C	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0027 a0002c0027	a0002c0027t0001 a0002c0027t0001	a0002c0027t0001g0095 a0002c0027t0001g0095	1	360	0.0028	-384	c.136 others(17): Show c.136-3452_136-3069del	XYLT2	ENSG00000015532.10	transcript	ENST00000017003.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
ADARB2_chr10_1172313_1742525	1239549	CCCCTCTG others(376): Show CCCCTCTGCCTCCCGGTGTTTACTCCCCCCTCCCTCCCGGTGTTTACTCC CCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCC TCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGCTTACTCCCCTC TGCCTCCCGGTGTTTACTCCCCCCTCCCTCCCGGTGTTCACTCCCCTCTG CCTCCCGGTGTTTACTCCCCCCTCCCTCCCGGTGTTTACTCCCCTCTGCC TCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTC CCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCC GGTGTTCACTCCCCTCTCCCTCCCGGTGTTCACT	C C	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0007 a0006c0012t0007	a0006c0012t0007g0006 a0006c0012t0007g0006	1	106	0.0094	-383	c.136 others(19): Show c.1361+2199_1361+2581del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
CDH4_chr20_61247261_61945617	61945234	TCAGAGTG others(376): Show TCAGAGTGTCTACACCGTGGCCACGCCTTCTCACCGATGCTGAGGAGCAC CGAGACTGTCTGCACTGTGGCCGCCCCTTCTCACCGACGACGAGGAGCAC TGCGACCATCTGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCAC TGCGACTGTCTGCACCGTGGCCGCCCCTTCTCACTGACGATGAGGAGCAC TGCGACTGTCTGCACCGTGGCCGCCCTTTCTGACTGATGATAAGGAACAT TGCGACTGTCTGCACCGTGGCTGCCCCTTCTCACCAACGCTGAGGAGCAC TGCAACCATCTGCACCGTGGCCGCCCCTTCTCACCGATGATGAGGAACAT TGAGACTGTCTGCCCCGTGGCTGCCCCTTCTCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01081.hp2 HG01099.hp2 others(5): Show HG00738.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01496.hp2 HG03704.hp2 HG04115.hp2 NA18952.hp2	a0001 a0002 a0001 a0002	a0001c0021 a0001c0022 a0002c0005 others(2): Show a0001c0021 a0001c0022 a0002c0005 a0002c0015 a0002c0026	a0001c0021t0008 a0001c0022t0042 a0002c0005t0007 others(4): Show a0001c0021t0008 a0001c0022t0042 a0002c0005t0007 a0002c0005t0015 a0002c0005t0030 a0002c0015t0007 a0002c0026t0015	a0001c0021t0008g0047 a0001c0022t0042g0072 a0002c0005t0007g0097 others(5): Show a0001c0021t0008g0047 a0001c0022t0042g0072 a0002c0005t0007g0097 a0002c0005t0007g0100 a0002c0005t0015g0069 a0002c0005t0030g0103 a0002c0015t0007g0025 a0002c0026t0015g0079	8	106	0.0755	-383	c.82 others(11): Show c.8292_*8674del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		4618		chr20	TogoVar
DDX51_chr12_132131594_132149319	132135673	TCCCCGAG others(376): Show TCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCC CACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCT CCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGT GCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCT CCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAG TGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCC GCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTC CCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02559.hp1 HG01891.hp2 HG02559.hp1	a0004 a0008 a0004 a0008	a0004c0012 a0008c0010 a0004c0012 a0008c0010	a0004c0012t0013 a0008c0010t0012 a0004c0012t0013 a0008c0010t0012	a0004c0012t0013g0018 a0008c0010t0012g0015 a0004c0012t0013g0018 a0008c0010t0012g0015	2	334	0.0060	-383	c.32 others(11): Show c.3216_*3598del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		920		chr12	TogoVar
DNAJA3_chr16_4420868_4461775	4449099	CGATTCTC others(376): Show CGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCTGCC ACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCG TGTTAGCCAGAGTGGCCTCAATCTCCTGACCTAGTGATCCACCCACCTTG GCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCATGCCCGGCCAGA ATGGTCGACTTCTTGGAGTTGTTGGGAGAATTAAATGAACAACACATAGG AATTGCTTTGCTGCTGCTGCTATTGTTGATTTTCTTCTTTTTTTTTTGAG AAGGAATCTGTCACTGTGTTGCCCAGGCTGGAATGTGGTGGTGCCATTTC AGCTCACTGCAACCTCCTCCTCCCCAGTTCAAAT	C C	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0183 a0001c0014t0001g0183	1	345	0.0029	-383	c.124 others(17): Show c.1241+286_1241+668del	DNAJA3	ENSG00000103423.14	transcript	ENST00000262375.11	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPYSL4_chr10_132181948_132210759	132191431	GCTGGTCA others(376): Show GCTGGTCATGTGGTATCCAGGCAGATGAAAGTATGTTCCCAGCTCGTGTG TACACGCTGGTCATGTGGTATCCAGGCAGATGAACATAGTTCCCAGCTCG TGTGTACACGCTGGTCACATGGTATCCAGGCAGGTTAAAGTATGTTCCCA GCTCGTGTGTACACGCTGGTCACGTGGTATCCAGGCAGGTGAAAGTATGT TCCCAGCTCGTGTGTACACGCTGGTCACGTGGTATCCAGGCAGGTGAAAG TATGTTCCCAGCTCGTGTGTACACGCTGGTCACGTGGTATCCAGGCAGGT GAAAGTATGTTCCCACCTCTTGTGTACACACTGGTCACGTGGTATCCAGG CAGGTGCAAATAGTTCCCAGCTCGTGTGTACACA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02080.hp2 HG02523.hp1 others(7): Show HG00673.hp2 HG02080.hp2 HG02523.hp1 NA18959.hp2 NA18970.hp1 NA18981.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0033 a0001c0001t0001 a0001c0001t0033	a0001c0001t0001g0014 a0001c0001t0001g0032 a0001c0001t0001g0132 others(1): Show a0001c0001t0001g0014 a0001c0001t0001g0032 a0001c0001t0001g0132 a0001c0001t0033g0175	10	418	0.0239	-383	c.128 others(15): Show c.128+604_129-837del	DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
EFNA5_chr5_107371894_107675937	107634459	TTAGCTAT others(376): Show TTAGCTATGATGGCGCCACTGCACTGTAGCCTGGACAACAAATGAGATCC TCTCACAAAAAAAGAAGAAAGTTCACAACAAAGAGGAAACTTTCATATGT TCAAAAACTTCCAGGAAAACAGGTACCCTCCTACCAACGCCCTGGGGAGT TCAAAACTCAGTAACACTGACAGTATCTGATATCAGGTGGATGTTCTTTA CCCACATAGGCAGACTAAGTTTTAACCTGAGTCCTTAAGGGCGTATACCC ACACCAAAAATAATGACAGTATTTCAAATGGGAGAAGTTCAGATAACTGT CTCAAGTCTATTGATCTTCATGGAGATAATTTCCAAGGTATAATGCAAGA TTTCTAATGTTTAAAAAAGGTAGAACAACCCCAA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp2 HG00597.hp2 others(13): Show HG00323.hp1 HG00558.hp2 HG00597.hp2 HG00639.hp1 HG00741.hp1 HG01255.hp2 HG01258.hp2 HG01433.hp1 HG02738.hp1 HG03239.hp2 NA18956.hp2 NA18965.hp2 NA18978.hp2 NA19070.hp2 NA19088.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0027 a0001c0001t0068 a0001c0001t0073 a0001c0001t0079 a0001c0001t0099	a0001c0001t0001g0124 a0001c0001t0002g0120 a0001c0001t0003g0126 others(13): Show a0001c0001t0001g0124 a0001c0001t0002g0120 a0001c0001t0003g0126 a0001c0001t0007g0119 a0001c0001t0008g0121 a0001c0001t0008g0125 a0001c0001t0009g0127 a0001c0001t0015g0122 a0001c0001t0016g0123 a0001c0001t0020g0149 a0001c0001t0021g0118 a0001c0001t0027g0117 a0001c0001t0068g0188 a0001c0001t0073g0085 a0001c0001t0079g0187 a0001c0001t0099g0128	16	190	0.0842	-383	c.125 others(19): Show c.125+35647_125+36029del	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
ERICH1_chr8_659200_736224	675946	CCCCTCGT others(376): Show CCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCG GCGCCCCCCCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAG ACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGAC AGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCG AGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCC TCGGCGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGGCGCGGC GGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACG CGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGG	C C	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	378	0.0027	-383	c.305 others(17): Show c.305-2282_305-1900del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
EXOC2_chr6_480154_698139	676131	ACTCTGAG others(376): Show ACTCTGAGGTTCCCCATACTCTTCAACATTACGGAAAGGACAGGTTCCTC TGGAGACTGCGGTTCCCCATACTCTTCAACATTACGGAAAGGACAGGTTC CTCTGGAGACTGCGGTTCCCCATACTCTTCAACATTACGGAAAGGACAGG TTCCTCTGGAGACTCTGCGGTTCCCCATACTCTTCAACATTACGGAAAGG ACAGGTTCCTCTGGTGACTCTGCGGTTCCCCATACTCTTCAACATTACGG AAAGGACAGGTTCCTCTGGTGACTCTGCGGTTCCCCATACTCTTCAACAT TACGGAAAGGACAGGTTCCTCTGGTGACTCTGCGGTTCCCCATACTCTTC AACATTACGGAAAGGACAGGTTCCTCTGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0149 a0001c0003t0009g0149	1	272	0.0037	-383	c.-44 others(19): Show c.-44+16505_-44+16887del	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	1/27			chr6	TogoVar
KCNG2_chr18_79792938_79905100	79886451	AGGGACAC others(376): Show AGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACG GGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGT GGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATA GGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGG GAACATAGGGACGTGGGGACAGGGACATGGGGACACAAGACAGGGAGATG GGGATGGGAACATAGGGACGTGGGGACAGGGACACGGGACAGGGAGATGG GGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGACAGG GAGATGGGGATGGGAACATAGGGACGTGGGGACG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	312	0.0032	-383	c.625 others(19): Show c.625-12582_625-12200del	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
LRRC63_chr13_46206928_46282115	46268499	GAACCCCA others(376): Show GAACCCCAAAGACAAAGATAAGAACCTAAAATCAGCCAGGAATAAAAAAT CCCTTACAAAAAACAACAAATCAACTGCCAGCCACAGTGGACCAGTGACT GAAAAAAAATATTATTTTGCCCAGCAAAGCTTTCAAGAACAAGAGAAAAC ATGGTATTTTCAGATAAACCAAAACAGAATTTACTCACAATAAATTTTCA CCAAAGGAAGTTGCAAAGGATGTACATCAAAAAAAGAAAAATGATTCCAG AAGCAAGTTCTGAGAGGCAAGAAGGAATGGTGAGAAAAGCAGTTGGAAAA TATGTAGGTAAACAAACATGATCTCTATGAAATAACAATGTCTATGATAT GGGGTTTAAAAAATATAACTAAAACCAGACATCA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02818.hp1 HG02717.hp2 HG02818.hp1	a0004 a0005 a0004 a0005	a0004c0003 a0005c0012 a0004c0003 a0005c0012	a0004c0003t0001 a0005c0012t0001 a0004c0003t0001 a0005c0012t0001	a0004c0003t0001g0174 a0005c0012t0001g0310 a0004c0003t0001g0174 a0005c0012t0001g0310	2	386	0.0052	-383	c.155 others(19): Show c.1550+1531_1550+1913del	LRRC63	ENSG00000173988.14	transcript	ENST00000595396.3	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
PRKCZ_chr1_2045411_2190395	2123188	CACGGTGG others(376): Show CACGGTGGTGGTTAGGGTCACGGTGGTAGGGTCGTGGTGGTTAGGGTCGT GGCGGTGGTTAGGTTCATGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCA CGGTGGTAGTTAGGGTCACGGTGGTGGTTAGGGTCATGGTGGTGGTTAGG GTCACGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTTGTGGTGGTTAGGGT CGTGGCGGTGGTTAGGGTCACGGTGGTGGTTAGGGTTGTGGTGGTTAGGG TCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTT GTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGGT TGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCACG	C C	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0043 a0001c0002t0002g0043	1	286	0.0035	-383	c.335 others(19): Show c.335-12073_335-11691del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
SDHA_chr5_213320_262082	259951	CCAGAGCA others(376): Show CCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTG AGCTCCGCCTCCCCACAGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAG AGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCT CCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCA TTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGC CTCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACC GTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCC GCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG03017.hp2 HG04115.hp1 others(15): Show HG02129.hp1 HG03017.hp2 HG04115.hp1 HG04115.hp2 NA18747.hp1 NA18942.hp1 NA18946.hp2 NA18949.hp1 NA18962.hp2 NA18975.hp1 NA18990.hp2 NA18994.hp1 NA18998.hp1 NA19010.hp1 NA19062.hp2 NA19064.hp2 NA19088.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0010 others(13): Show a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0010 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0042 a0001c0001t0002g0045 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0005g0073	18	266	0.0677	-383	c.35 others(11): Show c.3532_*3914del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		2870		chr5	TogoVar
SKIC3_chr5_95458894_95559977	95504264	AGGCAGAG others(376): Show AGGCAGAGGTTGTAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGG CAAGACAGAACAAGACTGGTCTCAAAAAAAAAATTTACACTAAGTTTCTT TTGATAATTTCATGTGTACTTCCTTTTTTATAGTGGTCTACTAAATTACG AAGTGTCTCTTTTTTTTCTTAACAAGCTTTAATTAAAATCCCAAATTATA AAAATAATTTCAAGTTGACTTTAATATGGATCTCTAATTTTTTTAAGCTG AATACTTAATTAAATATTACCCTATGAGTATGATTCTAGCATCTTTGCCA AGCTTAACAAGTCATAAAATGCCTAGTCAGAATCAAACCTATCTTTTGTG TAAACTGTTTATCTGCACATTTTTTTTTTCTTTT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02622.hp1 HG02809.hp1 others(3): Show HG02451.hp2 HG02622.hp1 HG02809.hp1 HG02970.hp1 HG02976.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0004g0032 others(3): Show a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0034 a0001c0001t0004g0035	6	352	0.0171	-383	c.309 others(17): Show c.3093-709_3093-327del	SKIC3	ENSG00000198677.13	transcript	ENST00000358746.7	protein_coding	30/42			chr5	TogoVar
SLC66A2_chr18_79897420_79956653	79919511	CAGGAACC others(376): Show CAGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGG GAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAAGG TCAGTGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAG AGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCG AGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCA AGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGG AGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAA CCGAGTGAGAGGTCAGGGTCAGTGAGGAGAGACA	C C	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0040 a0002c0006t0040	a0002c0006t0040g0335 a0002c0006t0040g0335	1	352	0.0028	-383	c.392 others(15): Show c.392-494_392-112del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79919615	TGGAGGAG others(376): Show TGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGAC AGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGG AGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGT CAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAG ACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGA GTGAGAGGTCAGGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAA GGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGA GAGACAGGAACCGAGGGAGAGGTCAGGGTCAGTG	T T	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0281 a0001c0001t0002g0281	1	352	0.0028	-383	c.392 others(15): Show c.392-598_392-216del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79919778	CAGGAACC others(376): Show CAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGG GAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGTGAGAGGTCAGG GTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGGGGAG AGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCG AGGGAGAGGTCAGGGTCAGTGGAGGAGAGACAGGAACCGAGGGAGAGGTC AAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGGA GGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGACGGAA CCGAGGGAGAGGTCAGGGTCAGTGAGGAGAGACA	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	352	0.0028	-383	c.392 others(15): Show c.392-761_392-379del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79920885	CGGGAACC others(376): Show CGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAG GGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGG GTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGCTCAGTGAGGA GAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACC GAGTGAGAGGTCAAGCTCAGTGGGGAGAGATGGAACCGAGTGAGAGGTCA AGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGAGGAG GAGAGACGGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAA CCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACG	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01928.hp1 HG02293.hp1 HG01261.hp1 HG01928.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0260 a0001c0001t0008g0258 a0001c0001t0008g0259 a0001c0001t0001g0260 a0001c0001t0008g0258 a0001c0001t0008g0259	3	352	0.0085	-383	c.392 others(17): Show c.392-1868_392-1486del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
TRARG1_chr17_1274662_1305978	1277972	GGCCTCCC others(376): Show GGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCCTG AGCAAAATTCTTAATTTAATATAGTCAAATTTATGAAACCTGCAAAGTTC TCCCAAAGCCACAAACATTGTTTTTTATTTGTTTGTTTGTTTGTTTGTTT TTAGTTGGAGTCTCATTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAACC TTGGCTCACTGCAACGTTCGCTTCTTCCCAGGTTCAAGTGATTCTCCTGC CTCAGTCTCCAAAGTAGCTGTGGTTACAGGCACCCACCACCACGCTAATT TTTGTATTTTTAGTAGAGACAGGGTTTTGCCATGATGGCCAGGCTGGTCT CGAACTGCTGACCTCAAGTGATCCACCTGCCTCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0001	a0009c0009t0001g0073 a0009c0009t0001g0073	1	402	0.0025	-383	c.-20 others(11): Show c.-2029_-1647del	TRARG1	ENSG00000184811.4	transcript	ENST00000333813.4	protein_coding		1689		chr17	TogoVar
UNC13B_chr9_35157009_35410335	35374133	GTGCAAGA others(376): Show GTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTC TGGGCTTGGCAGATACATGGGGCCCCTGTGCAAGAGTGTGGCTAGCAAGG CAGCCCCAGCTCTCAGACTTAACTCTCTGTGCTTGGCAGATACATGGGCC CTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAACTC TCTGGGCTTGGCATATACATCGGGCCCTGTGCAAGAGTGTGGCTAGCAAG GCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCAGATACATGGGG CCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAA CTCTCTGGGCTTGGCAGATACATGGGGCCCCCTA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0002 a0006c0008t0002	a0006c0008t0002g0003 a0006c0008t0002g0003	1	224	0.0045	-383	c.954 others(17): Show c.9541-942_9541-560del	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	13/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
WDR70_chr5_37374318_37758435	37563132	CTCCCGGC others(376): Show CTCCCGGCCTCCCTCCCGGATGGGGGGGCTGGCTGGGCGGGGGGCTGACC CCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCAGGCAGAGGCGCCCCTCACTTTCCGGATGG GGCGGCTGGCCGGGCGGGGGGCTGGCCCCCCACCTCCCTCCTGGACGGGG CGGCTGGCCGTGCAGAGGGGCTCCTCTCTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCAGGATTGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACATCCTTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG02258.hp1 others(9): Show HG01109.hp1 HG01243.hp1 HG02258.hp1 HG02280.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02809.hp2 HG02896.hp2 HG02965.hp1 HG03195.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0001c0007 others(1): Show a0001c0002 a0001c0004 a0001c0007 a0002c0008	a0001c0002t0001 a0001c0004t0001 a0001c0007t0001 others(1): Show a0001c0002t0001 a0001c0004t0001 a0001c0007t0001 a0002c0008t0001	a0001c0002t0001g0067 a0001c0002t0001g0069 a0001c0002t0001g0070 others(9): Show a0001c0002t0001g0067 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0084 a0001c0004t0001g0064 a0001c0004t0001g0065 a0001c0007t0001g0068 a0002c0008t0001g0066	12	242	0.0496	-383	c.918 others(19): Show c.918-41931_918-41549del	WDR70	ENSG00000082068.9	transcript	ENST00000265107.9	protein_coding	9/17			chr5	TogoVar
XYLT2_chr17_50341126_50366185	50349958	AGATCACT others(376): Show AGATCACTTGAGGTCAGGAATTTGAGACCAGCCTGGCCAATATGGTAAAG CCCAGTCTTTACTAAAAATACAAAAAGTTGCCAGGCATGGTGGCACATAC CTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCGCTTGAACCT GGGAGGCAAAGGTTGCAGTGAGCTGAGATCACGCTACTGCACTCCAGCCT GGGCGACAGAGTGAGACTGCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA GTACCAGTACTTACTGAATGCTGTGCCTATGCCAAAAGCTTTGCATTCAT TCATTCATTCATTCAAAAAATACTAAGGCCAGGCACAGTGGCTTAGGCCT GTAATCCCAGCACTTTGGGAGGCCAAGGTTTGTG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01070.hp1 HG01071.hp2 others(9): Show HG00639.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01123.hp2 HG01167.hp1 HG02056.hp2 HG02257.hp1 HG02630.hp1 HG02647.hp2 HG02970.hp2 HG04204.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0007c0011 a0002c0002 a0007c0011	a0002c0002t0001 a0007c0011t0001 a0002c0002t0001 a0007c0011t0001	a0002c0002t0001g0007 a0002c0002t0001g0097 a0007c0011t0001g0007 others(1): Show a0002c0002t0001g0007 a0002c0002t0001g0097 a0007c0011t0001g0007 a0007c0011t0001g0096	12	360	0.0333	-383	c.136 others(17): Show c.136-3653_136-3271del	XYLT2	ENSG00000015532.10	transcript	ENST00000017003.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
CAMK1D_chr10_12344547_12840545	12554203	GCTGGAGT others(375): Show GCTGGAGTACAATGGCGCAATCTCAGCTCACTGCAACTTCCACCTCCTGG CTTCAAGCGATTCTCCCGCCTCAGCCTCCCGAAGCTGGGATTACAGGCAT CTGCCATCATGCCCAGCTAATTTTTGTATTTTTGTAGAGATGAGGTTTCT CCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCG CCTTGGCCTCCCAAAGTGCTGAGTTTACAGGCATGAGCCACTGCGCCTGG CCAAGATTTTCATTTATTTCTATTACACATGGGGAGCAAAAATATAAGAA AGTCCTCTCTTGTATAATGGCACACATAGAACCATTCATTTTTTCTTTTT TTCTCCAGGCAGGATCTTGCTCTGTTGCCCAGT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00323.hp2 others(46): Show HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00558.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG01168.hp1 HG01256.hp2 HG01261.hp2 HG01433.hp2 HG01928.hp1 HG01928.hp2 HG01975.hp1 HG01975.hp2 HG02040.hp2 HG02083.hp1 HG02132.hp2 HG02293.hp1 HG02293.hp2 HG02622.hp1 HG02698.hp1 HG02717.hp2 HG02896.hp2 HG02897.hp1 HG03195.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03669.hp2 HG04184.hp2 HG04199.hp2 HG06807.hp2 NA18612.hp2 NA18942.hp2 NA18945.hp2 NA18954.hp1 NA18959.hp2 NA18974.hp2 NA18977.hp2 NA18978.hp1 NA18989.hp2 NA18999.hp1 NA18999.hp2 NA19012.hp1 NA19057.hp1 NA20129.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(37): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0001t0029 a0001c0001t0030 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0056 a0001c0001t0072 a0001c0001t0074 a0001c0001t0075 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0085 a0001c0001t0087 a0001c0001t0105 a0001c0001t0108 a0001c0001t0112 a0001c0002t0015 a0001c0002t0021 a0001c0002t0024 a0001c0002t0044 a0001c0002t0052 a0001c0002t0063 a0001c0002t0065 a0001c0002t0066 a0001c0002t0067	a0001c0001t0001g0095 a0001c0001t0001g0130 a0001c0001t0001g0133 others(46): Show a0001c0001t0001g0095 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0176 a0001c0001t0002g0206 a0001c0001t0003g0001 a0001c0001t0003g0129 a0001c0001t0004g0017 a0001c0001t0005g0054 a0001c0001t0006g0075 a0001c0001t0006g0178 a0001c0001t0007g0068 a0001c0001t0009g0213 a0001c0001t0011g0018 a0001c0001t0014g0147 a0001c0001t0017g0198 a0001c0001t0017g0200 a0001c0001t0018g0190 a0001c0001t0022g0070 a0001c0001t0029g0136 a0001c0001t0030g0188 a0001c0001t0033g0185 a0001c0001t0034g0202 a0001c0001t0036g0022 a0001c0001t0037g0052 a0001c0001t0056g0154 a0001c0001t0072g0057 a0001c0001t0074g0060 a0001c0001t0075g0210 a0001c0001t0079g0151 a0001c0001t0080g0160 a0001c0001t0081g0096 a0001c0001t0085g0110 a0001c0001t0087g0124 a0001c0001t0105g0111 a0001c0001t0108g0020 a0001c0001t0112g0038 a0001c0002t0015g0050 a0001c0002t0015g0069 a0001c0002t0015g0148 a0001c0002t0021g0023 a0001c0002t0024g0127 a0001c0002t0024g0131 a0001c0002t0044g0112 a0001c0002t0052g0214 a0001c0002t0063g0201 a0001c0002t0065g0140 a0001c0002t0066g0097 a0001c0002t0067g0053	49	214	0.2290	-382	c.224 others(16): Show c.224+855_224+1236del	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
DCC_chr18_52335197_53540899	53086162	CTCTTCCT others(375): Show CTCTTCCTCTTCTCTTCTTCTTCTTTTCTTCTTCTTCTTTTCTTCTTTCC TTCCCTTCTTCTTCTTCCGTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTT CTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTC TTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCT TCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTT CTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTC TTCTTCTTCTTCCTTTCTTCTTCTTCTTTCTTCTTCTTCCTTTCTTCTTC TTCTTCTTTCTTCTTCCTTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02976.hp1 HG01346.hp1 HG02976.hp1	a0001 a0008 a0001 a0008	a0001c0003 a0008c0016 a0001c0003 a0008c0016	a0001c0003t0008 a0008c0016t0021 a0001c0003t0008 a0008c0016t0021	a0001c0003t0008g0048 a0008c0016t0021g0033 a0001c0003t0008g0048 a0008c0016t0021g0033	2	114	0.0175	-382	c.126 others(21): Show c.1261+19998_1261+20379del	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
ERICH1_chr8_659200_736224	675779	GGCCCCTC others(375): Show GGCCCCTCGGCGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGA CGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACA GAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGA GGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTC GTGAGGACAGAGACGCGGCGCCCCCCCGGCGAGGACAGAGACGCGGCGGC CCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGG CGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGAC GCGGCGCCCCCTCGGCGAGGACAGAGACGCGGC	G G	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	378	0.0027	-382	c.305 others(17): Show c.305-2114_305-1733del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
F10_chr13_113117799_113154529	113142394	AAAAAAAT others(375): Show AAAAAAATTAGCTGGGCATGGTGGTGCACGCCTGTAGTCCCAGCTGCTCA GGAGGCTGAGGCAAGAGAATGGCGTGAACCTGGAAGGCGGAGCTTGCACT GAGCACTGAGCCGAGATTGCGCCACTGCGCTCCAGCCTGGGCAACAGAAT GAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAATCAAAAGGCAAATGT GATGTGTGAAAATAAAATTACATAATCTACTTTGTAGTGCAAAAAGTTCA GGCTGGGCAAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAA GGTGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAT GGTGAAACCCTGTCTCTATAAAAAAAAAAATAC	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01358.hp2 HG01516.hp2 others(2): Show HG00741.hp1 HG01358.hp2 HG01516.hp2 HG02738.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0228 others(2): Show a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0228 a0001c0001t0001g0250 a0001c0001t0001g0355	5	412	0.0121	-382	c.502 others(17): Show c.502+1350_503-1070del	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GAL3ST2_chr2_241771822_241809287	241807030	CCCCTCAG others(375): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCTTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGC CACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTC CCCCCTCACGCCAGGGACCCGGGAAGAGCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0008	1	314	0.0032	-382	c.28 others(11): Show c.2865_*3246del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2744		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807698	CCCCCCTC others(375): Show CCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCTC CCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGAC CTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCC ACTCTCCCCTCTTAGCCCAGGGACCTCGGCAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0144 a0002c0002t0002g0144	1	314	0.0032	-382	c.35 others(11): Show c.3533_*3914del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3412		chr2	TogoVar
GUCY1A2_chr11_106669019_107023476	107007869	ATTTACTG others(375): Show ATTTACTGTCCCTCTAGCTTACAGATACACATTTCTTTAGGAGATAATAT AGACACCCTTGTAAGTGGCAGCACATCAGCAACCCCAAATAACTGTTGTG TCTACAGGCATTTTAAGATAATCATACTATCCGGCCTGGTGCGGTGGCTC ACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCAGGCAGATCACCTGG GGTCAGGAGTTCGACACCAGGCCCAGCCAATATGGCGAAACCCCTAATAA ACATACAAAAATTAGCCAGGCATGGTGGCATGCGCCTGTAATTCCAACTA CCCAGGAGGCTGAGGCAGGAGAATCGCTGGAACCCGGTGGGCAGAGGCTG TGGTGAGCCAAGATTGTGCCACTGTACTCCAGC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00544.hp1 others(24): Show HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG01358.hp2 HG01361.hp1 HG01943.hp2 HG01952.hp1 HG02027.hp1 HG02083.hp1 HG02293.hp2 HG02602.hp1 NA18941.hp2 NA18946.hp2 NA18951.hp2 NA18954.hp2 NA18964.hp1 NA18971.hp1 NA18975.hp2 NA18988.hp1 NA18993.hp2 NA19005.hp1 NA19010.hp2 NA19011.hp1 NA19056.hp1 NA19058.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0008 others(2): Show a0001c0001 a0001c0007 a0001c0008 a0001c0014 a0001c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0023 a0001c0001t0033 a0001c0001t0048 a0001c0001t0062 a0001c0001t0065 a0001c0001t0066 a0001c0007t0005 a0001c0008t0054 a0001c0008t0070 a0001c0014t0001 a0001c0015t0068	a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0019 others(24): Show a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0013 a0001c0001t0002g0016 a0001c0001t0003g0014 a0001c0001t0005g0027 a0001c0001t0007g0010 a0001c0001t0007g0026 a0001c0001t0008g0022 a0001c0001t0023g0012 a0001c0001t0033g0004 a0001c0001t0048g0003 a0001c0001t0062g0005 a0001c0001t0065g0011 a0001c0001t0066g0002 a0001c0007t0005g0018 a0001c0007t0005g0025 a0001c0008t0054g0020 a0001c0008t0070g0024 a0001c0014t0001g0255 a0001c0015t0068g0256	27	256	0.1055	-382	c.303 others(17): Show c.303+9502_303+9883del	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	1/7			chr11	TogoVar
NEU4_chr2_241804193_241822413	241807030	CCCCTCAG others(375): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCTTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGC CACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTC CCCCCTCACGCCAGGGACCCGGGAAGAGCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0016 a0001c0004t0001g0016	1	319	0.0031	-382	c.-22 others(11): Show c.-2247_-1866del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2162		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807698	CCCCCCTC others(375): Show CCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCTC CCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGAC CTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCC ACTCTCCCCTCTTAGCCCAGGGACCTCGGCAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0013 a0002c0003t0002g0013	1	319	0.0031	-382	c.-15 others(11): Show c.-1579_-1198del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1494		chr2	TogoVar
PXDN_chr2_1626887_1749515	1704239	AGGGGGGC others(375): Show AGGGGGGCAACTCCAGGTGAAGGGGGGGACAGCTCCAGGTGAAGCGGGGG ACAGCTCCAGGTGAAGGAAGGACAACTCCAGGTGAAGCGGGGGACAACTC CAGGTGAAAGAGGGACAACTCCAGGTGAAGGGGGGGCAACTCCAGGTGAA GGGGGGGGCAACTCCAGGTGAAGGAGGGCAACTCCAGGTGAAGGTAGGGG ACAACTCCAGGTGAAGGGGGGCAACTCCAGGTGAAGGGGGGGGCAACTCC AGGTGAAGGAGGGCAACTCCAGGTGAAGGTGGGGGACAACTCCAGGTGAA GGGGGGCAACTCCAGGTGAAGGGAGGGCAACTCCAGGTGAAGGGGGGACA GCTCCAGGTGAAGGGGGGCAGCTCCAGGTAAAG	A A	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02273.hp1 HG02280.hp2 others(7): Show HG01928.hp2 HG02273.hp1 HG02280.hp2 HG02602.hp1 HG02809.hp2 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03209.hp1 HG04115.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0008	a0001c0001 a0001c0022 a0001c0032 others(3): Show a0001c0001 a0001c0022 a0001c0032 a0003c0018 a0005c0036 a0008c0025	a0001c0001t0001 a0001c0001t0019 a0001c0022t0014 others(4): Show a0001c0001t0001 a0001c0001t0019 a0001c0022t0014 a0001c0032t0028 a0003c0018t0005 a0005c0036t0003 a0008c0025t0020	a0001c0001t0001g0138 a0001c0001t0001g0157 a0001c0001t0001g0168 others(7): Show a0001c0001t0001g0138 a0001c0001t0001g0157 a0001c0001t0001g0168 a0001c0001t0001g0243 a0001c0001t0019g0242 a0001c0022t0014g0047 a0001c0032t0028g0046 a0003c0018t0005g0048 a0005c0036t0003g0036 a0008c0025t0020g0172	10	322	0.0311	-382	c.201 others(19): Show c.201-11487_201-11106del	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
SLC66A2_chr18_79897420_79956653	79919997	TGGAGGAG others(375): Show TGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGAC AGGAACCGAGTGAGAGGTCAAGGTCAGTGGAGGAGAGACAGGAACCGAGG GAGAGGTCAAGGTCAGTGGGGAGAGACGGAACCGAGGGAGAGGTCAGGGT CAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGAGGAGA GACAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACGGAACCGAG GGAGAGGTCAGGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAG GTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAG AGACGGGAACCGAGGGAGAGGTCAAGGTCAGTG	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0320 a0001c0001t0003g0320	1	352	0.0028	-382	c.392 others(15): Show c.392-979_392-598del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar

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Search Results (Total: 10000 hits)