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
RNF223_chr1_1065967_1079306	1077450	GGGGGAGG others(383): Show GGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGG GGACTCCGTGGGGGGAGGCTGAGTCTATGGGGACTCCGTGCCGAGAGGCT GAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTG CCGGGAGGCTGAGTCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGG GGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCT GAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTACGGGGACTCCGTG GGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGG GGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0004 a0002c0003t0002g0004	1	324	0.0031	-390	c.-38 others(11): Show c.-3834_-3445del	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		3145		chr1	TogoVar
RNF223_chr1_1065967_1079306	1077613	TCTATGGG others(383): Show TCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTTGGG GGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGA CTCCGTGCGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAG GCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGG GGAGGCTGAGGCTACGGGGACTCCGTGCGGGGAGGCTGAGGCTACGGGGA CTCCGTTGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAG GCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGG GGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	324	0.0031	-390	c.-39 others(11): Show c.-3997_-3608del	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		3308		chr1	TogoVar
RNF223_chr1_1065967_1079306	1077977	CGGGGACT others(383): Show CGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAG GCTGAGTCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCC GTTGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTA TGGGGACTCCGTGGGGGGACGCTGAGGCTATGGGGACTCCGTGGGGGGAG GCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCC GTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGCGTCTA TGGGGACTCCGTGAGGGGTGGCTGAGGCTATGGGGACTCCGTGGGGGGAG GCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0017 a0001c0001t0011g0017	1	324	0.0031	-390	c.-43 others(11): Show c.-4361_-3972del	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		3672		chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288251	TCCGTCCC others(383): Show TCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGT CTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCG TCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCC	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0021 a0021	a0021c0032 a0021c0032	a0021c0032t0002 a0021c0032t0002	a0021c0032t0002g0039 a0021c0032t0002g0039	1	290	0.0035	-390	c.166 others(17): Show c.1662+240_1662+629del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
TCERG1L_chr10_131087391_131316721	131228201	CCCCTCCA others(383): Show CCCCTCCAGACAGGCATTTCCTCAAGGCCTCCGGAGTCTCCCCTCCAGAC AGGCATTTCCTCAAGGCCTCCGGAGTCTCCCCTCCAGACAGGCATTTCCT CAAGGCCTCCGGAGTCTTCCCTCCAGACAGGCATTTCCTCAAGGTCTCTG GAGTCTCCCCTCCAGACAGGCATTTCCTCAAGGCCTCACGAGTCTCCCCT CCAGACAGGCATTTCCTCAAGGCCTCCGGAGTCTCCCCTCCAGACAGGCA TTTCCTCAAGGCCTCCGGAGTCTTCCCTCCAGACAGGCATTTCCTCAAGG TCTCTGGAGTCTCCACTCCAGAAAGGCATTTCCTCAAGGCCTCACGAGTC TCCCCTCCAGACAGGCATTTCCTCAAGGCCTCCGGAGTCTT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02630.hp2 HG02735.hp2 others(3): Show HG02572.hp1 HG02630.hp2 HG02735.hp2 HG02976.hp1 HG03471.hp1 NA18906.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 others(2): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0018 a0003c0005t0002	a0001c0001t0002g0232 a0001c0001t0002g0320 a0001c0001t0008g0215 others(3): Show a0001c0001t0002g0232 a0001c0001t0002g0320 a0001c0001t0008g0215 a0001c0001t0009g0245 a0001c0001t0018g0091 a0003c0005t0002g0193	6	324	0.0185	-390	c.856 others(19): Show c.856+31668_856+32057del	TCERG1L	ENSG00000176769.9	transcript	ENST00000368642.4	protein_coding	4/11			chr10	TogoVar
TUBGCP2_chr10_133273635_133313872	133291733	GTGTCCCC others(383): Show GTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTA CGGGAGAGGGCAGCACGCGCCCTCCGTGTCCCCCATGTCCCTCCGTGTCC CCCATGTCCCTCCGTGTCCCTGTGTCCCGGGGAGCCCTACCTGTACGGGA GAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCAT GTCCCTCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTA CGGGAGAGGGCAGCACGCACCCTCCGTGTCCCCCATGTCCCTCTGTGTCC CTCCGTGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCGTGTCCCT CCGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCCCA	G G	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	284	0.0035	-390	c.121 others(17): Show c.1214+376_1214+765del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
ZAN_chr7_100728595_100802797	100740837	TGGCCGGG others(383): Show TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCTGGGCGGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGTCGGGGGGCTGACCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG CGGCTGGCCGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCGCGGACGGGGC AGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC	T T	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	308	0.0033	-390	c.766 others(17): Show c.766+2238_766+2627del	ZAN	ENSG00000146839.19	transcript	ENST00000613979.5	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr7	TogoVar
C2CD4C_chr19_400445_414147	404578	GACGGGGT others(382): Show GACGGGGTCCTGCCCTGAGGGGTCTGAGGGGGAGACGGGTCCTGCCCTGA GGGGTGTGGAGGGGGGATGGGGTCCTGCCCTGAGGGGTCTGAGGGGGGGA CGGGTCCTGCCCCGAGGGGTGTGGAGGGGGGAACGGGGTCCTGCCCTGAG GGGTGTGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGATGG GGTCCTGCCCTGAGGGGTGTGGAGGGGGGACGGGGTCCTGCCCTGAGGGG TGTGAGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGAGGGGGGGACGGG GTCCTGTCCCGAGGGGTGTGGGGGGGGGACGGGGTCCTGCCCTGAGGGGT GTGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTGGGGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp1 NA19066.hp1 NA19060.hp1 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0070 a0001c0002t0126 a0001c0002t0070 a0001c0002t0126	a0001c0002t0070g0131 a0001c0002t0126g0137 a0001c0002t0070g0131 a0001c0002t0126g0137	2	322	0.0062	-389	c.21 others(11): Show c.2129_*2517del	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		866		chr19	TogoVar
DDX51_chr12_132131594_132149319	132134628	CCGGTGCC others(382): Show CCGGTGCCCACTCCTCCTACCTCCCCGAGTGTGCCCACGGTGCCCGCTCC TCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGT GTGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCC CCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCC CCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCGAGTGTGCCCACG GTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCA CCTCCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCGAGTGTG CCCACGGTGCCCACTCCTCCCACCTCTCCGAGTGTGCCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0011 a0005c0007t0011	a0005c0007t0011g0019 a0005c0007t0011g0019	1	334	0.0030	-389	c.42 others(11): Show c.4255_*4643del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1965		chr12	TogoVar
DLGAP2_chr8_732628_1713476	1016224	CGATGCCT others(382): Show CGATGCCTCCACTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGT GTGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCGGGACAGACGG CGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTG TGACCAGGACAGACGATGCCTCCACTGTGTGTGACCAGGACAGACGACGC CTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACC AGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTC CACTGTGTGAGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGG ACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGAT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0025 a0001c0010t0025	a0001c0010t0025g0012 a0001c0010t0025g0012	1	40	0.0250	-389	c.73+ others(19): Show c.73+108260_73+108648del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPP6_chr7_154047398_154899285	154060314	GACCCCCA others(382): Show GACCCCCATCGCAGGAGGGGGAGGCACCCCCCGCGAGGCAGGGACTGAGA GCCAGCCCCTGGTTCCCCCACTGGCTCTTAGGACCCCCATCGCAGAGGGG GGAGGCACCCCCCGCGAGGCGGGGACTGCGAGCCAGACCCTCTTCCCCCT CTGGCTTAGGACCTCCATCGTTGATCCTAAGATCCTTAGGACCCACCTGG AGGACTGCGGGTGTTAGGTGTCCAAGTAGAAAGTTCAAATCTTCCGACGG CAGGTACCTTACGTGGGATTACTGAGAGCCAGTCCCTCTTCCCCCCCCTG GCTCTGAGGACCCCCATCGCAGGAGGGGGAGGCACCCCCCACGAGAGTGG CGACTGAGAGCTATCCCCTCTTCCGCCCCTGGCTGTTAGT	G G	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG03579.hp2 HG00673.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0014 a0002c0002 a0002c0014	a0002c0002t0022 a0002c0014t0025 a0002c0002t0022 a0002c0014t0025	a0002c0002t0022g0030 a0002c0014t0025g0029 a0002c0002t0022g0030 a0002c0014t0025g0029	2	38	0.0526	-389	c.243 others(17): Show c.243+7266_243+7654del	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
GABRG2_chr5_162062773_162160526	162131841	CTTGGATT others(382): Show CTTGGATTTAGGGTCAAAATGTGGTGAGACACCTACTCCAATATTAGTAG CTATAAGGAAGTTACCACAAATTTGAATATGTGTATACTAGTCAGTGAAA TATTCTAATAGTAAAACTTAGGTTTTGGGTGGCATTCAGAGTTCCTAGTA GAGCCTTCGGCACCTAGGAGAAAATAAAAAATGGTGGTAATTACAACAAA TATTGATTAATTACAACCAGTTATTGCAACAGGTATTGCAAGAACTCTGT CAGGTTGCTATGGAGAATTTTGTCATCTCTATTTTACAAAATAGGAAACT GAGTCTCAGATTGGTTACTTAAAATAACCTCCTAATATCACAAATTAGTT TTTGACCAATTTGGGACACGAACTTGGTTCTTACTAAATA	C C	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01433.hp2 HG01346.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0105 a0001c0001t0003g0126 a0001c0001t0003g0105 a0001c0001t0003g0126	2	328	0.0061	-389	c.770 others(18): Show c.770-10321_770-9933del	GABRG2	ENSG00000113327.17	transcript	ENST00000639213.2	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
LUC7L_chr16_183990_234449	186066	GGGGGAAC others(382): Show GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20805.hp2 NA20300.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0142 a0001c0001t0001g0143	2	350	0.0057	-389	c.27 others(11): Show c.2743_*3131del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2923		chr16	TogoVar
LUC7L_chr16_183990_234449	186287	GGGGGAAC others(382): Show GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	350	0.0029	-389	c.25 others(11): Show c.2522_*2910del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2702		chr16	TogoVar
NEU4_chr2_241804193_241822413	241807106	CCCCCCTC others(382): Show CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGC CTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAG AGCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	319	0.0031	-389	c.-21 others(11): Show c.-2171_-1783del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2086		chr2	TogoVar
PLEKHG4B_chr5_87168_194966	165497	CTGACGGG others(382): Show CTGACGGGGCGGGGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACT AATGCTCTGACGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGGGCT CACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGATGTGGC GGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTCTGA CGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAATG CTCTGACGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGAGCTCACA CTAATGCTCTGATGGGACGGGGCTCACACTAATGCTCTGACGGGGCGGGG CTCACAGTAATCCTCTGACGGGGCGGAGCTCACACTAATG	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0120 a0003c0009t0120	a0003c0009t0120g0013 a0003c0009t0120g0013	1	210	0.0048	-389	c.347 others(19): Show c.3476+1950_3476+2338del	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19			chr5	TogoVar
PRAMEF9_chr1_13166848_13184459	13181879	CAAAATTT others(382): Show CAAAATTTGCTGGGAGTGGTGGCATTCGCCTGTAATCCCAGGTATTCAGG AGGCTGAGGCAGGACAATCACTTGAACCCGGGAGGTGAGGGTTGCAATGA GACGAGATTGCACCACTTCACTCCAGCCTGGGCGACAGAGCATGAAAAAA AATTTACTATAATGTGAATACTATTAGAGTATAAATATTTGTGTTGTAAT TTATGTATATGAAAGATTAGAACTTTTAAAGAATGCAACGTGATATTTCA AGAATGGTTAATGGCCAGGTGTGGTGGTTCATGCCTGTATTCCTGGCACT TTGGGAGGCCGAGGTGGGCAGATCACGAGGTCAGGAGTTCCAGACCAGCC TGGCCAACATGATGAAACCCCGTCTCTACGAAAAATACAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02486.hp2 HG03486.hp2 HG02451.hp2 HG02486.hp2 HG03486.hp2	a0011 a0030 a0011 a0030	a0011c0012 a0030c0021 a0011c0012 a0030c0021	a0011c0012t0009 a0030c0021t0009 a0011c0012t0009 a0030c0021t0009	a0011c0012t0009g0019 a0030c0021t0009g0058 a0011c0012t0009g0019 a0030c0021t0009g0058	3	204	0.0147	-389	c.27 others(11): Show c.2748_*3136del	PRAMEF9	ENSG00000204505.5	transcript	ENST00000415919.3	protein_coding		2421		chr1	TogoVar
SOX11_chr2_5687384_5706385	5705467	GTACCAGG others(382): Show GTACCAGGTTGGAAGAACAGGGGAGGCAGGGATGTAGAAGCTGCAAGGAC CAGGGTGGAGGAGCTAGGGGAGTAGGGGTGGAGGAGCCGGTGAGAAAGGG GTGGAGGAGTAGGGGATGCCAGGGTGGAGGAGTTGAGGAGAATGGGGTGG AGGAGCAGGGGAAGCAGGGGTGGAGGAGCTGGGGTGGCCGAGGTGGAGGA GCAGGGGAGGCCAGGGTGGAGGAGCCGAGAAGGGGTGGAGCTGGGGAGGC CGGGGTGAAGGAGTTGGGGGGACTTGGATGGAGGAGCAAGGGAGGCAGGG GTGGAGGACCTGAGAAGGGGTGGAGTTTGGGAGTCTGGGGAGGAGGAGCT GGGGAGGTCAGGGTGGAAGAGTTGAGACCTAGCTGGAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0183 a0001c0001t0183	a0001c0001t0183g0000 a0001c0001t0183g0000	1	434	0.0023	-389	c.11 others(13): Show c.11421_*11809del	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4083		chr2	TogoVar
TPO_chr2_1408463_1548673	1537151	TCTGTGCA others(382): Show TCTGTGCAAGTGCCCCCTATTTCCCCAACTGTGTAGCAACCTCCCCAAAT CCCCCCACTGTGTGCCACCTCCCCAAATCCCCCAACTGTTTCGAACCACC TCAAATCCCCCCACTGTGTGCAACCTCCCCAAATCCCCCCCACCCTCTGC AACGTCCCCAAACCTACTCTGTCCAACCTCCCCAAATCCTCCACTCTGTT CGACCTCCGCCTATCGCCCTACTGTGTGCAACTCCCTCAAATCCCCCCAC TGTGAGCAACCTCCCCAAACCCTCCCATTGTGTGCAAACTCCCAAATCTC CCCACTGTGTGCAACCTCCTCAAATTCTTCCACTCTGTGCAGCCTCCCCA AATCCCCCCAACTCTGTGCAACCTCCGCCTATCCCCCCCA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG02080.hp2 others(12): Show HG00408.hp2 HG00423.hp1 HG02080.hp2 HG03654.hp2 HG04204.hp2 NA18612.hp2 NA18985.hp1 NA18998.hp1 NA19010.hp2 NA19011.hp2 NA19058.hp2 NA19088.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0019	a0001c0001 a0002c0015 a0003c0003 others(3): Show a0001c0001 a0002c0015 a0003c0003 a0003c0006 a0004c0005 a0019c0024	a0001c0001t0005 a0002c0015t0004 a0003c0003t0004 others(5): Show a0001c0001t0005 a0002c0015t0004 a0003c0003t0004 a0003c0003t0005 a0003c0006t0004 a0003c0006t0011 a0004c0005t0005 a0019c0024t0005	a0001c0001t0005g0073 a0002c0015t0004g0112 a0003c0003t0004g0016 others(11): Show a0001c0001t0005g0073 a0002c0015t0004g0112 a0003c0003t0004g0016 a0003c0003t0004g0035 a0003c0003t0004g0051 a0003c0003t0005g0001 a0003c0003t0005g0043 a0003c0006t0004g0096 a0003c0006t0004g0097 a0003c0006t0004g0100 a0003c0006t0004g0103 a0003c0006t0011g0085 a0004c0005t0005g0071 a0019c0024t0005g0009	15	130	0.1154	-389	c.261 others(19): Show c.2619-3442_2619-3054del	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16			chr2	TogoVar
ZDHHC11B_chr5_705355_789729	710880	GCTCCCAA others(382): Show GCTCCCAATTCCCAGTACTGTGCTCCCATTTCCCAATGCTATGCTCCCAT TTCCCAGTGCTGTGAGCTCCCATTTCCCAGTACTGTGCTCCCATTTCCAA ATACTGTGCTCCATTTCCCAGTACTGTGAGCTCCCATTTCTCAGCGCTGT GCTCCCAATTCCCAGTACTGTGCTCCCATTTCCCAATGCTATGCTCCCAT TTCCCAGTGCTGTGAGCTCCCATTTTCCAGTACTGTGCTCCCATTTCCCA GTACTATGGGCTCCCCTTTCCCAGTACTGTGCTCCGCTTTCCCAGTACTA TGCTCCCATTTCCCAGTGCTGTGCCCTCCCCTTTCCCAGTACTGTGCTCC CATTTCCCAATACTGTGCTCCCATTTCCTAGTGCTGTGAA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0005 a0005	a0005c0018 a0005c0018	a0005c0018t0051 a0005c0018t0051	a0005c0018t0051g0164 a0005c0018t0051g0164	1	271	0.0037	-389	c.10 others(11): Show c.1021_*1409del	ZDHHC11B	ENSG00000206077.14	transcript	ENST00000508859.8	protein_coding	14/14	5539		chr5	TogoVar
ATP10A_chr15_25673712_25868327	25758337	ACTCATTC others(381): Show ACTCATTCCGACCACCTGATCCACCCTAACTCATTCCAATCACCTGCTCC ACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACC TGCTCCACCCTAACTCATTCCTATCACCTGCTCCACCCTAACTCATTCCG ACCACCTGCTCCACCCTAACTCATTCCTATCACCTGCTCCACCCTAACTC ATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCC TAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCT CCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCA CCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACC	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0049 a0049	a0049c0040 a0049c0040	a0049c0040t0001 a0049c0040t0001	a0049c0040t0001g0034 a0049c0040t0001g0034	1	300	0.0033	-388	c.654 others(19): Show c.654+22294_655-22197del	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
B3GNTL1_chr17_82937149_83056770	83003883	GTCCGCGT others(381): Show GTCCGCGTGTGGGATTCCTGAGCTCGCCCTCCCGCCCTCCGCGTGTGGGA TTCCTGAGCTCGCCCTCCCACTCTCCGCAGTCCGCGTGTGGGATTCCTGA GCCCGCCCTCCCGCCCTCCGCATGTGGGATTCCTGAGCCCGCCCTCCCGC CCTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCACTCTCTGCAGTCCGC GTGTGGGATTCCTGAGCCCGCCCTCCCGCCCTCCGCGTGTGGGATTCCTG AGCTCGCCCTCCCACTCTCCGCAGTCCGCGTGTGGGATTCCTGAGCCCGC CCTCCCGCCCTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCACTCTCCG CAGTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCGCCC	G G	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0253 a0001c0001t0004g0253	1	266	0.0038	-388	c.459 others(16): Show c.459+844_459+1231del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
CACNA1B_chr9_137872782_138129619	137976812	AGCCTTGG others(381): Show AGCCTTGGAGGCAGTGTGTTTCCCAGCTTACCATGACAGCTGAGCACAGA GGGCAGTGCTGGGCAGTCTGAGAATTACCAACTTATGTAGGTAGGGAGGC CTTGGAGGCAGTGTGTTTCCCAGCTTACCATGACAGCTGAGCACAGAGGG CAGGGCAGGGCAGTCTGAGAATTACCAACTTATGTAGGTAGGGAGGCCTT GGAGGCAGTGTGTTTCCCAGCTTACCATGACAGCTGAGCACAGAGGGCAG TGCTGGGCAGTCTGAGAATTACCAACTTATGTAGGTAGGGAGGCCTTGGA GGCAGTGTGTTTCCCAGCTTACCATGACAGCTGAGCACAGAGGGCAGGGC AGGGCAGTCTGAGAATTACCAACTTATGTAGGTGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA20752.hp2 HG02486.hp2 NA20752.hp2	a0005 a0005	a0005c0024 a0005c0024	a0005c0024t0011 a0005c0024t0011	a0005c0024t0011g0160 a0005c0024t0011g0162 a0005c0024t0011g0160 a0005c0024t0011g0162	2	248	0.0081	-388	c.165 others(18): Show c.1656+982_1656+1369del	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	12/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA2D3_chr3_54117552_55079557	54207141	TCTTCTTG others(381): Show TCTTCTTGGGTGCTCAGATAGAATGGGCCTTCTAGGCAGTGTCTGCCACA AGAGCTAATATGTGCTGAGTGCTAATTGTATGCATGGCAACAAATTAATT TACATGTACAGTCTCACTAATGCTGGGAGACGTGTGCTAGGGTCTTCATC TTCCTCACCAGAAAAGTGAAGCTCAGAGATATTGCCACTTGCCAAGGTCA CACAGCTAGCAAGTGGCAGAGCTGGGCTTGCCCGTGACCTGGAACCACTG TGTCCTCTGTGTGATTTGACACCACTGTAATCCGGGTGGATACATTATGC TTTTAAGACCATTTAAGACCAAGTTGAAAATCTCTCTTGGACTTATTGGT AGGTATTTTTTCATGTTGTACCTGAGGCTTGGAGGGATA	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01123.hp1 HG02080.hp2 others(4): Show HG00673.hp2 HG01123.hp1 HG02080.hp2 HG02717.hp2 HG03516.hp1 NA18522.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0021 others(2): Show a0001c0001 a0001c0002 a0001c0021 a0001c0033 a0001c0039	a0001c0001t0001 a0001c0002t0001 a0001c0021t0002 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0021t0002 a0001c0033t0001 a0001c0039t0001	a0001c0001t0001g0016 a0001c0001t0001g0030 a0001c0001t0001g0068 others(4): Show a0001c0001t0001g0016 a0001c0001t0001g0030 a0001c0001t0001g0068 a0001c0002t0001g0004 a0001c0021t0002g0023 a0001c0033t0001g0114 a0001c0039t0001g0047	7	118	0.0593	-388	c.204 others(19): Show c.204+83549_204+83936del	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHRNA4_chr20_63338223_63366349	63339654	GCATCATA others(381): Show GCATCATATCCACAAAGACGAGTGAATTACATCATATCCACACAGATGAA TGAATTACATCATATCCACACAGATGAATGAATTACATCATATCCACACA GATGAATGAATTGCATCATATCCACACAGATGAATGAATTATATCATATC CACAAAGATGAGTGAATTATGTCATAGCCACACAGATGAATGAATTACAT CATATCCACAAAGATGAGTGAAGTATGTCATATCCATAAAGACGAGTGAA TTACATCATATCCACACAGATGAATGAATTACATCATATCCACAAAGACG AGTGAATTACGTCATATCCACACAGATGAATGAATTACATCATATCCACA CAGATGAATTACATCATATCCACAAAGACGAGTGAATTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0072 a0001c0005t0001g0072	1	168	0.0060	-388	c.66 others(11): Show c.6696_*7083del	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		3568		chr20	TogoVar
COP1_chr1_175939831_176212286	176132538	AATATATA others(381): Show AATATATACACACATATACACATATGTACGTATATATACTATATATACAC ACATATACACATATGTACGTATATATACTATATATACACACATATACACA TATGTACGTATATATACTATATATACACACATATACACATATGTACGTAT ATATACTATATATACACACATATACACATATGTACGTATATATACTATAT ATACACACATATACACATATGTACGTATATATACTATATATACACACATA TACACATATGTACGTATATATTATATATACACACATATACACATATGTAC GTATATATACTATATATACACACATATACACATATGTACGTATATATACT ATATATACACACATATACACATATGTACGTATATATACT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0266 a0002c0003t0001g0266	1	300	0.0033	-388	c.968 others(17): Show c.968+2084_968+2471del	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	8/19			chr1	TogoVar
DCC_chr18_52335197_53540899	53086156	CCTCTTCT others(381): Show CCTCTTCTCTTCCTCTTCTCTTCTTCTTCTTTTCTTCTTCTTCTTTTCTT CTTTCCTTCCCTTCTTCTTCTTCCGTTCTTCTTCTTCTTCTTCCTTTCTT CTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCCTTTCTTC TTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCTTCCTT TCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCCTTT CTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCCTTTC TTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTTCTTCTTCTTCCTTTC TTCTTCTTCTTCTTTCTTCTTCCTTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00733.hp1 others(3): Show HG00099.hp2 HG00280.hp1 HG00733.hp1 HG01884.hp2 HG02895.hp2 HG03195.hp1	a0001 a0007 a0001 a0007	a0001c0002 a0001c0003 a0001c0007 others(1): Show a0001c0002 a0001c0003 a0001c0007 a0007c0014	a0001c0002t0001 a0001c0003t0028 a0001c0007t0003 others(1): Show a0001c0002t0001 a0001c0003t0028 a0001c0007t0003 a0007c0014t0037	a0001c0002t0001g0094 a0001c0002t0001g0103 a0001c0003t0028g0076 others(3): Show a0001c0002t0001g0094 a0001c0002t0001g0103 a0001c0003t0028g0076 a0001c0007t0003g0035 a0001c0007t0003g0099 a0007c0014t0037g0030	6	114	0.0526	-388	c.126 others(21): Show c.1261+19991_1261+20378del	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	7/28			chr18	TogoVar
DDX51_chr12_132131594_132149319	132134686	CCCGAGTG others(381): Show CCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCAC GGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCCTCCTCC CACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGTGT GCCCACGGTGCCCACTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGC TCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCCG AGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCGAGTGTGCCCACGGT GCCCACTCCTCCCACCTCTCCGAGTGTGCCCACGGTGCCCACTCCTCCCA CCTCCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	1	334	0.0030	-388	c.41 others(11): Show c.4198_*4585del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1907		chr12	TogoVar
DDX51_chr12_132131594_132149319	132134804	ACGGTGCC others(381): Show ACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCACTCC TCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGT GTGCCCCGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCC GCTACCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTC TCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCA CGGTGCCCACTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTC CCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGT GCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTATGCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	1	334	0.0030	-388	c.40 others(11): Show c.4080_*4467del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1789		chr12	TogoVar
DDX51_chr12_132131594_132149319	132135214	CCCGAGTG others(381): Show CCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCA CGGTGCCCACTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTC CCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTG CCCACGGTGCCCGCTACCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCG CTACCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTC CCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCAC GGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCC ACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	334	0.0030	-388	c.36 others(11): Show c.3670_*4057del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1379		chr12	TogoVar
DLGAP2_chr8_732628_1713476	1016850	GTGTGTGA others(381): Show GTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAG ACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTG TGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACG GCGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGT GACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGGCG CCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTG ACCGGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGACGC CTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCAC	G G	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0004 a0001c0012t0004	a0001c0012t0004g0036 a0001c0012t0004g0036	1	40	0.0250	-388	c.73+ others(19): Show c.73+108891_73+109278del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
GRTP1_chr13_113319163_113369130	113346340	CCGAGAGC others(381): Show CCGAGAGCGGACCCAGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGG ACCTCTGTGGCTGAGCAGACCTGGGAAGACATCTGTGGCCGAGAACAGAC CCAGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCT GACAGTGGACCCGGGAGGACCTCTGTGGCAAAGAGCAGACCCGGGAGGAC CTCTGTGGCAAAGAGCAGACCCAGGAGGACCTCTGTGGCCGAGAACAGAC CCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCT GAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCT CTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCTG	C C	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	288	0.0035	-388	c.466 others(17): Show c.466-1769_466-1382del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
MVB12B_chr9_126321829_126512040	126484558	TTCCACTG others(381): Show TTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGG TCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTG CTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACC TTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGG TCAGGGTACTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTGC TTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACTT CCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGGTC AGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACCG	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0270 a0001c0001t0008g0270	1	318	0.0031	-388	c.873 others(16): Show c.873+735_873+1122del	MVB12B	ENSG00000196814.15	transcript	ENST00000361171.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
SKI_chr1_2223319_2315213	2280868	CGCCCGAG others(381): Show CGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGA GAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACA GGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCG GCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGA TCTTCAGAGAGCGGACGCCCGAGAAGACAGGCGGCGGCGGAGATCTTCAG AGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGG ACGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGCCCG AGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT	C C	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0318 a0001c0001t0002g0318	1	330	0.0030	-388	c.970 others(19): Show c.970-22091_970-21704del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPIRE2_chr16_89823475_89876319	89840425	ATTTTTAG others(381): Show ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTTTCGATC TCCTGACCTTGGGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGATTACA GGCATGAGCCACCATGTCTGGCCCAAATCCTTTCAAAGTTATATTTTAAT GTTACCGTAATGTTTCTCTCAAAAGTTGGAGATGGTTTGCATAAAAATAA AAAGTTTTCAAATTTTTTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTC GCCCAGGCTGGAGTGCAATGGCGCAATCTCGGCTCACTGCAAACTCCGCC TCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGTGCCCGCCACCACGCCCAGCTTATTTTTTTGTAT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	356	0.0028	-388	c.245 others(17): Show c.245-4854_245-4467del	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
THEG_chr19_356747_381026	376947	CCCCCGTG others(381): Show CCCCCGTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCT CCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCC TCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGC CTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCA GCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACC CAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCAC CCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCTGTGCCC CACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0020 a0009c0011t0020	a0009c0011t0020g0114 a0009c0011t0020g0114	1	370	0.0027	-388	c.-13 others(10): Show c.-1365_-978del	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		922		chr19	TogoVar
TUBGCP2_chr10_133273635_133313872	133291610	TGCACCGT others(381): Show TGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTG TCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACC GTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCG TGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCACGCGCCCTCCGT GTCCCCCATGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCTGTGTCC CGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCC CCATGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCTCCGTGTCCCCG TGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCAC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0006 a0001c0008t0002g0006	2	284	0.0070	-388	c.121 others(17): Show c.1214+501_1214+888del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
ZNF516_chr18_76352682_76500242	76393424	CAGGTGGT others(381): Show CAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGG GCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0103 a0001c0042t0103	a0001c0042t0103g0126 a0001c0042t0103g0126	1	346	0.0029	-388	c.181 others(21): Show c.1811-13509_1811-13122del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ABCC1_chr16_15944616_16148053	16003295	TGATGGGT others(380): Show TGATGGGTGAATGAATTGGTAGGTGGGTAGGGTGGATGGATGAATTGGTG GATGGGTAGGTGGATGGATGAATGAACTGGTGGGTTGCTGGATGGGTGGA TGAATTGGTAGGTGGGTGGATGGATGGATGGATGGGTGAATGAATTGGTA GGTGGGTAGGGTGGATGGGTGAATTAGTGGATGGGTAGGTGCATGGATGA ATGAATTGGTGGGTTGGTGGATGGGTGGATGAATTGGTAGGTGGGTGGAT GGATGGATGGATGGGTGAATGAATTGGTAGGTGGGTAGGGTGGATGGGTG AATTGGTGGATGGGTAGGTGGATGTATAAATGAATTGGTGGGTGGGTGGA TGGATGGATGAACTGGTGGGTGGGTGGATGGATGGATG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00280.hp2 HG00323.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0013 a0001c0015t0013	a0001c0015t0013g0038 a0001c0015t0013g0062 a0001c0015t0013g0038 a0001c0015t0013g0062	2	249	0.0080	-387	c.49- others(15): Show c.49-4482_49-4096del	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC170_chr6_151489017_151626193	151499013	ATTCTAGG others(380): Show ATTCTAGGCACGCTGTATAAGTGGAATCAGACTGTATTTGACTATTCTAG GCACTCTGTATAAGTGGAATCAGACTGTATTTGACTATTCTAGGCATGCT GTATAAGTGGAATCATACTGTATTTGACTATTCTAGGCACGCTGTATAAG TGGAATCAGACTGTATTTGACTATTTTAGGCACGCTGCATAAGTGGAATC AGACTGTATTTGACTCTTCTAGGCATGCTGTATAAGTGGAATCAGACTGT ATTTGACTCTTCTAGGCACACTGTATAAGTGGAATCAGACTGTATTTGAC TCTTCTAGGCACACTGTATAAGTGGAATCAGACTGTATTTGACTCTTCTA GGCACGCTGTATAAGTGGAATCAGACTGTATTTGACTC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp1 HG00673.hp1 others(39): Show HG00408.hp2 HG00609.hp1 HG00673.hp1 HG02074.hp1 HG02080.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02273.hp2 HG02735.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG03490.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 NA18946.hp1 NA18947.hp2 NA18949.hp1 NA18969.hp1 NA18972.hp2 NA18974.hp1 NA18980.hp2 NA18994.hp2 NA19000.hp2 NA19002.hp2 NA19003.hp2 NA19064.hp1 NA19067.hp1 NA19070.hp1 NA19079.hp1 NA19081.hp2 NA19082.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0009 a0012	a0001c0001 a0001c0005 a0002c0002 others(8): Show a0001c0001 a0001c0005 a0002c0002 a0002c0003 a0002c0015 a0003c0004 a0003c0008 a0003c0009 a0003c0012 a0009c0016 a0012c0022	a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 others(21): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0005t0003 a0001c0005t0012 a0001c0005t0015 a0001c0005t0030 a0002c0002t0001 a0002c0002t0019 a0002c0002t0023 a0002c0003t0001 a0002c0003t0004 a0002c0003t0062 a0002c0003t0063 a0002c0003t0064 a0002c0015t0001 a0003c0004t0007 a0003c0004t0021 a0003c0008t0005 a0003c0008t0029 a0003c0009t0005 a0003c0012t0005 a0009c0016t0006 a0012c0022t0043	a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0003g0174 others(39): Show a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0003g0174 a0001c0001t0003g0188 a0001c0001t0012g0189 a0001c0005t0003g0163 a0001c0005t0012g0160 a0001c0005t0015g0172 a0001c0005t0015g0183 a0001c0005t0030g0191 a0002c0002t0001g0169 a0002c0002t0019g0157 a0002c0002t0023g0167 a0002c0003t0001g0168 a0002c0003t0001g0170 a0002c0003t0001g0171 a0002c0003t0001g0173 a0002c0003t0001g0180 a0002c0003t0001g0181 a0002c0003t0001g0182 a0002c0003t0001g0184 a0002c0003t0001g0186 a0002c0003t0001g0197 a0002c0003t0004g0159 a0002c0003t0062g0185 a0002c0003t0063g0187 a0002c0003t0064g0162 a0002c0015t0001g0164 a0002c0015t0001g0190 a0002c0015t0001g0192 a0002c0015t0001g0193 a0003c0004t0007g0148 a0003c0004t0021g0149 a0003c0008t0005g0177 a0003c0008t0029g0198 a0003c0009t0005g0158 a0003c0009t0005g0178 a0003c0009t0005g0179 a0003c0012t0005g0161 a0009c0016t0006g0166 a0009c0016t0006g0196 a0012c0022t0043g0165	42	320	0.1313	-387	c.57+ others(15): Show c.57+4882_57+5268del	CCDC170	ENSG00000120262.10	transcript	ENST00000239374.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
CCDC170_chr6_151489017_151626193	151499171	GACTGTAT others(380): Show GACTGTATTTGACTATTTTAGGCACGCTGCATAAGTGGAATCAGACTGTA TTTGACTCTTCTAGGCATGCTGTATAAGTGGAATCAGACTGTATTTGACT CTTCTAGGCACACTGTATAAGTGGAATCAGACTGTATTTGACTCTTCTAG GCACACTGTATAAGTGGAATCAGACTGTATTTGACTCTTCTAGGCACGCT GTATAAGTGGAATCAGACTGTATTTGACTCTTCTAGGCACGCTGTATAAG TGGAATCAGACTGTATTTGACTATTCTAGGCACGCTGTATAAGTGGAATC AGACTGTATTTGACTATTCTAGGCACTCTGTATAAGTGGAATCAGACTGT ATTTGACTATTCTAGGCATGCTGTATAAGTGGAATCAT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01081.hp2 HG01099.hp1 others(34): Show HG00099.hp2 HG01081.hp2 HG01099.hp1 HG01167.hp1 HG01169.hp1 HG01516.hp2 HG02155.hp1 HG02165.hp2 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02723.hp2 HG02970.hp1 HG03139.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03704.hp2 HG03710.hp2 HG04184.hp2 NA18747.hp1 NA18947.hp1 NA18952.hp2 NA18955.hp2 NA18963.hp1 NA18970.hp2 NA18972.hp1 NA18979.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19056.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp2 NA19066.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0007 a0009 a0010 a0012 a0020 a0025	a0001c0001 a0001c0032 a0002c0002 others(12): Show a0001c0001 a0001c0032 a0002c0002 a0002c0003 a0003c0004 a0003c0008 a0003c0012 a0003c0023 a0004c0007 a0007c0010 a0009c0016 a0010c0020 a0012c0022 a0020c0041 a0025c0036	a0001c0001t0002 a0001c0001t0003 a0001c0001t0053 others(20): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0053 a0001c0032t0002 a0002c0002t0001 a0002c0003t0004 a0003c0004t0005 a0003c0004t0006 a0003c0008t0007 a0003c0012t0007 a0003c0023t0005 a0004c0007t0002 a0004c0007t0003 a0004c0007t0013 a0004c0007t0027 a0007c0010t0001 a0007c0010t0004 a0007c0010t0010 a0009c0016t0042 a0010c0020t0034 a0012c0022t0002 a0020c0041t0016 a0025c0036t0005	a0001c0001t0002g0131 a0001c0001t0003g0143 a0001c0001t0003g0150 others(34): Show a0001c0001t0002g0131 a0001c0001t0003g0143 a0001c0001t0003g0150 a0001c0001t0053g0132 a0001c0032t0002g0130 a0002c0002t0001g0063 a0002c0002t0001g0144 a0002c0002t0001g0151 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0003t0004g0128 a0002c0003t0004g0156 a0003c0004t0005g0145 a0003c0004t0006g0141 a0003c0008t0007g0226 a0003c0012t0007g0222 a0003c0012t0007g0223 a0003c0012t0007g0224 a0003c0012t0007g0225 a0003c0023t0005g0152 a0003c0023t0005g0153 a0004c0007t0002g0134 a0004c0007t0002g0136 a0004c0007t0003g0137 a0004c0007t0003g0142 a0004c0007t0003g0147 a0004c0007t0013g0133 a0004c0007t0027g0135 a0007c0010t0001g0139 a0007c0010t0001g0140 a0007c0010t0004g0126 a0007c0010t0010g0127 a0009c0016t0042g0129 a0010c0020t0034g0146 a0012c0022t0002g0316 a0020c0041t0016g0125 a0025c0036t0005g0138	37	320	0.1156	-387	c.57+ others(15): Show c.57+5003_57+5389del	CCDC170	ENSG00000120262.10	transcript	ENST00000239374.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
COBLL1_chr2_164675188_164846823	164840187	TTCCTTAA others(380): Show TTCCTTAACGTTTCTATTTCTGGAATGCTCGTATTCTCATTAGGGCATTT CTGCATTCAGATTAACTAAGAAAATAAACTATGTTGGAGGAACACTTATG CTGGGGGGAAAAATCTTGTACTACATCAAACGAGTTTCCTACTTGAGAAA CTCAACTAGCATCCAGGTTACTCCTGAACTATTTACTAAGACCAAGGTTA TTTTCAGGTTTTCTTCATCTCTTGCAGAACTACCTGTTCTCATTACTGTT TACTCAAACGCTTAACAAGGTAACTATTAGCATATCTGGCAGGAAGACAT GCCTCATTTAATATTAACTCACCATGTGACAGCCCCCTTCCTCTCTTCTC AAACATGTGAGGATAAAAAGAAAAGTAGAGTTGTTTGC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA18906.hp1 HG03209.hp1 NA18906.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0025 a0008c0011t0025	a0008c0011t0025g0011 a0008c0011t0025g0012 a0008c0011t0025g0011 a0008c0011t0025g0012	2	212	0.0094	-387	c.41+ others(13): Show c.41+582_41+968del	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
DDX51_chr12_132131594_132149319	132135180	CCCGAGTA others(380): Show CCCGAGTATGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACG GTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCACTCCTCC CACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTG CCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTA CCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCC GAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCGAGTGTGCCCACGG TGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCC ACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0004 a0002c0002t0004g0004	1	334	0.0030	-387	c.37 others(11): Show c.3705_*4091del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1413		chr12	TogoVar
DLGAP2_chr8_732628_1713476	1017128	CGACGCCT others(380): Show CGACGCCTCCACTGTGTGTGTGACCGGGACAGACGGCGCCTCCACTGTGT GTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGAC GATGCCTCCACTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTG ACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGC CTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACC AGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTC CACTGTGTGTATGACCAGGACAGACGGTGCCTCCACTGTGTGTGTGACCA GGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01361.hp2 HG00639.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0010 a0001c0002 a0001c0010	a0001c0002t0023 a0001c0010t0025 a0001c0002t0023 a0001c0010t0025	a0001c0002t0023g0005 a0001c0010t0025g0012 a0001c0002t0023g0005 a0001c0010t0025g0012	2	40	0.0500	-387	c.73+ others(19): Show c.73+109182_73+109568del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERC1_chr12_986223_1500931	1086419	GTTGTTGT others(380): Show GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGT TGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTAT TATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTA TGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTA CAGGCAATATGCCTATGCCTGGCCCATTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0086 a0001c0001t0086	a0001c0001t0086g0060 a0001c0001t0086g0060	1	162	0.0062	-387	c.108 others(19): Show c.1086+2849_1086+3235del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1087007	GTTGTTGT others(380): Show GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGT TGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTAT TATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTA TGCCTGGCCCGTTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTA CAGGCAATATGCCTATGCCTGGCCCGTTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02622.hp1 HG01081.hp1 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0038 a0002c0002t0099 a0002c0002t0038 a0002c0002t0099	a0002c0002t0038g0082 a0002c0002t0099g0131 a0002c0002t0038g0082 a0002c0002t0099g0131	2	162	0.0124	-387	c.108 others(19): Show c.1086+3437_1086+3823del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1088037	TATTATTA others(380): Show TATTATTATTGTTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGC CTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGA TTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTG TTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTA TTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATG CCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACA GGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAA AGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0038 a0002c0002t0038	a0002c0002t0038g0082 a0002c0002t0038g0082	1	162	0.0062	-387	c.108 others(19): Show c.1086+4467_1086+4853del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1088050	GTTGTTGT others(380): Show GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGT TGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTAT TATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTA TGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTA CAGGCAATATGCCTATGCCTGGCCCATTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0130 a0001c0001t0083g0130	1	162	0.0062	-387	c.108 others(19): Show c.1086+4480_1086+4866del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1088635	GTTGTTGT others(380): Show GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC GTTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCGTTATTATTATTATTGTTGT TGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTAT TATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTA TGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTA CAGGCAATATGCCTATGCCTGGCCCATTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0087	a0001c0001t0087g0046 a0001c0001t0087g0046	1	162	0.0062	-387	c.108 others(19): Show c.1086+5065_1086+5451del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1089808	GTTGTTGT others(380): Show GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGT TGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTAT TATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTA TGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTA CAGGCAATATGCCTATGCCTGGCCCATTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02451.hp1 HG02895.hp1 others(1): Show HG00741.hp2 HG02451.hp1 HG02895.hp1 HG04199.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0109 a0001c0003t0092 a0002c0002t0066 others(1): Show a0001c0001t0109 a0001c0003t0092 a0002c0002t0066 a0002c0002t0131	a0001c0001t0109g0014 a0001c0003t0092g0004 a0002c0002t0066g0139 others(1): Show a0001c0001t0109g0014 a0001c0003t0092g0004 a0002c0002t0066g0139 a0002c0002t0131g0065	4	162	0.0247	-387	c.108 others(19): Show c.1086+6238_1086+6624del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar

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Search Results (Total: 10000 hits)