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
FAM3A_chrX_154501171_154521232	154505320	GTTTTGCT others(178): Show GTTTTGCTGTGAACCTAAAATGGCTCTAAGAAGGAAAGTTTACAAAAACA AAAAAGGAATGGAATACACGTAGAAAGTTCCTGGTGCAGAGGCAGGACTG GCATCACCATCGTTTCCTCCCTGGTGAGCCGCTCCTCCAGGGCACCCCTG TGCCTCCAACCCCACATGTGCCTGCTCCAGAAGCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	339	0.0030	-185	c.13 others(11): Show c.1306_*1490del	FAM3A	ENSG00000071889.17	transcript	ENST00000447601.7	protein_coding		850		chrX	TogoVar
FBLN7_chr2_112133385_112193218	112139155	AGTGTCCC others(178): Show AGTGTCCCTCCCGCCTCTCTCCAGGCCAGTGTCCCTCCCGCCTCTCTCCA GGCCAGTGTCCTTCACGCCTCTCTCCAGGTCAGTGTCCCTCCCGCCTCTC TCCAGGCCAGCGTCCCTCCCGCCTCTCTCCAGGTCAGCGTCCCTCCCGCC TCTCTCCAGGCCAGCGTCCCTCCCGCCTCTCTCCAC	A A	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	346	0.0029	-185	c.75+ others(13): Show c.75+427_75+611del	FBLN7	ENSG00000144152.13	transcript	ENST00000331203.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
GCNT3_chr15_59606783_59627723	59610967	CCCTCCCC others(178): Show CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCACCCTCCCCCTCCCCTCG CCCTCCCCCTCCCCTCGCCCTCCCCCTCCCCTTCTCCTCCCCCTCCCCTT CTCCTCCCCCTCCCCTTCTCCTCCCCCTCCCCTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0001 a0001c0001t0039g0001	1	428	0.0023	-185	c.-12 others(11): Show c.-1264_-1080del	GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding		815		chr15	TogoVar
GNG8_chr19_46628953_46641202	46635556	GGGAGATG others(178): Show GGGAGATGGAGGGAGGGGGTGTGGGGTGGGAGAGGATGGAGGAGATGGAC GGATGGGGTGGGAGAGGATGGGGAGATGGAGGGAGGGGGTGTGGGGTGGG AGAGGATGGGGAGATGGAGGGAGGGGGTGTGGGGTGGGAGAGGATGGGGA GATGGAGGGAGGGGGTGTGGGGTGGGAGAGGATGGA	G G	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03486.hp2 HG03942.hp1 others(2): Show HG02683.hp2 HG03486.hp2 HG03942.hp1 NA18991.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0046 a0001c0001t0001g0021 a0001c0001t0001g0046	5	438	0.0114	-185	c.-44 others(15): Show c.-44+406_-44+590del	GNG8	ENSG00000167414.5	transcript	ENST00000693335.1	protein_coding	1/2			chr19	TogoVar
GRIN2B_chr12_13532337_13986602	13757366	TTTGCAAA others(178): Show TTTGCAAATTATGGCCATAGCCACAAATAAAAGGGAAATCTTCATGTGTG CATCGAGTAGAAAGGACTGGTGGCCACACATCCATCTTTGCAGGCACCCA GCATGCACTGTGATTACCGCAAGTTATCGAGGATGAAGGACAGAGATATA ATTCTGTTTGTAGCTCACTATGCTTCCCCACTTACA	T T	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0052 a0001c0002t0052	a0001c0002t0052g0087 a0001c0002t0052g0087	1	194	0.0052	-185	c.412 others(17): Show c.412-3636_412-3452del	GRIN2B	ENSG00000273079.7	transcript	ENST00000609686.4	protein_coding	3/13			chr12	TogoVar
HDAC4_chr2_239043168_239406020	239232629	CCCCTCAC others(178): Show CCCCTCACCAAGCCAAGGGTGGCCCTTCCCCTCACCAAGCCAAGGGTGGC CCTTCCCCTCACCAAGCCAAGGGTGGCCCTTCCCTCACCAAGCCAAGGGT GGCCCTTCCCCTCACCAAGCCAAGGTGGCCCTTCCCTCTCCAAGCCAAGG GCGGCCCTTCCCCTCACCAAGCCAAGGGTGGCCCTT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0052 a0001c0001t0007g0052	1	242	0.0041	-185	c.94+ others(15): Show c.94+3779_94+3963del	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	3/26			chr2	TogoVar
HEATR6_chr17_60036008_60083921	60042514	CGGCTGTG others(178): Show CGGCTGTGAGGCACTGTCAGCATCCTCGCGTCCTGTGCGGCTGTGAGGCA CCGTCAGCATCCTCGCGTCCTGTGCGGCTGTGAGGCACTGTCAGCATCCT CGCGTCCTGTGCGGCTGTGAGGCACTGTCAGCATCCTCGCGTCCTGTGCG GCTGTGAGGCACTGTCAGCATCCTCGCGTCCTGTGT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0170 a0001c0001t0080g0170	1	250	0.0040	-185	c.86 others(10): Show c.864_*1048del	HEATR6	ENSG00000068097.16	transcript	ENST00000184956.11	protein_coding	20/20	864		chr17	TogoVar
HEATR6_chr17_60036008_60083921	60042528	TGTCAGCA others(178): Show TGTCAGCATCCTCGCGTCCTGTGCGGCTGTGAGGCACCGTCAGCATCCTC GCGTCCTGTGCGGCTGTGAGGCACTGTCAGCATCCTCGCGTCCTGTGCGG CTGTGAGGCACTGTCAGCATCCTCGCGTCCTGTGCGGCTGTGAGGCACTG TCAGCATCCTCGCGTCCTGTGTGGCTGTGAGGCACC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp2 HG01884.hp2 HG01891.hp2 others(8): Show HG00639.hp2 HG01884.hp2 HG01891.hp2 HG02257.hp1 HG02486.hp1 HG02886.hp1 HG03130.hp2 HG03540.hp1 HG03579.hp2 NA19240.hp1 NA19240.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0011 a0001c0001t0021 a0001c0001t0087 others(2): Show a0001c0001t0011 a0001c0001t0021 a0001c0001t0087 a0002c0002t0022 a0004c0004t0022	a0001c0001t0011g0008 a0001c0001t0011g0031 a0001c0001t0011g0032 others(7): Show a0001c0001t0011g0008 a0001c0001t0011g0031 a0001c0001t0011g0032 a0001c0001t0011g0033 a0001c0001t0021g0040 a0001c0001t0021g0112 a0001c0001t0021g0113 a0001c0001t0087g0076 a0002c0002t0022g0219 a0004c0004t0022g0184	11	250	0.0440	-185	c.85 others(10): Show c.850_*1034del	HEATR6	ENSG00000068097.16	transcript	ENST00000184956.11	protein_coding	20/20	850		chr17	TogoVar
HSD17B14_chr19_48808018_48841491	48834556	AGGGCTGG others(178): Show AGGGCTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCC TGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGT CCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAG GGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0290 a0005c0011t0001g0290	1	394	0.0025	-185	c.128 others(15): Show c.128-383_128-199del	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
IMPG1_chr6_75916114_76077662	75924528	TATAATAT others(178): Show TATAATATAATTATATAATATAATTAATATAATTATATATTATATATAAT TAATATAATTATATATTATATATAATTAATTATATATAATATATAATAAA TTATATATTATATATAATTAATTATATATAATATATAATAAATTATATAT TATATATTATATATAAATAATTATATATAATATATA	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0107 a0001c0018t0001g0107	1	302	0.0033	-185	c.224 others(18): Show c.2244-1007_2244-823del	IMPG1	ENSG00000112706.12	transcript	ENST00000369950.8	protein_coding	15/16			chr6	TogoVar
KLF17_chr1_44113821_44140140	44139955	CTGCTCCC others(178): Show CTGCTCCCCACAGAGGGTCTGGTTACTAGTGGGGGTCGTCATCTGCTCTC CACAGAGGGTCTGGTTACTAGTAGAGGTTGTCATCTGCCCCCCGTAGAGG GCCTGGTTACCAGTGGAGGTTGTCATCTGCTCTCCACAGAGGTTCTGGTT ACCAGTGGAGGTCATCATCTGCCCCCAGTAGAGGGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0080 a0002c0002t0002g0080	1	444	0.0023	-185	c.67 others(11): Show c.6719_*6903del	KLF17	ENSG00000171872.5	transcript	ENST00000372299.4	protein_coding		4816		chr1	TogoVar
KLHL17_chr1_955584_970719	964546	GCGGGGAG others(178): Show GCGGGGAGGGGGGCGCGGGTCCGCAGTGGGGCTGTGGGAGGGGTCCGCGC GTCCGCAGTGGGGATGTGCTGCGGGGAGGGGGGCGCGGGTCCGCAGTGGG GATGTGCTGCCGGGAGGGGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCG GGAGGGGGGCGCGGGTCCGCAGTGGGGATGTGCTGC	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0072 a0001c0001t0010g0072	1	432	0.0023	-185	c.170 others(16): Show c.1700+21_1700+205del	KLHL17	ENSG00000187961.15	transcript	ENST00000338591.8	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
KNDC1_chr10_133155219_133231412	133155658	AACTGTGG others(178): Show AACTGTGGGGTATTGACGTCGTTGGAAAGAGAACCTCCACTGTGGGGTAT TGACGTCGTTGGAAAGAGAACCTCCACTGTGGGGTATTGACGTCGTTGGA AAGAGAACCTCCACTGTGGGGTATTGACGTCGTTGGAAAGAGAACCTCCA CTGTGGGGTATTGACGTCGTTGGAAAGAGAACCTCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG02886.hp1 HG02922.hp1 others(7): Show HG00642.hp1 HG02886.hp1 HG02922.hp1 HG03017.hp2 HG03098.hp1 HG03669.hp1 HG03942.hp1 NA18522.hp1 NA18954.hp1 NA18961.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0008 a0021	a0001c0003 a0001c0008 a0001c0035 others(5): Show a0001c0003 a0001c0008 a0001c0035 a0001c0038 a0002c0006 a0003c0033 a0008c0014 a0021c0031	a0001c0003t0005 a0001c0008t0001 a0001c0035t0005 others(6): Show a0001c0003t0005 a0001c0008t0001 a0001c0035t0005 a0001c0038t0005 a0002c0006t0010 a0003c0033t0005 a0008c0014t0001 a0008c0014t0020 a0021c0031t0005	a0001c0003t0005g0307 a0001c0008t0001g0272 a0001c0035t0005g0263 others(7): Show a0001c0003t0005g0307 a0001c0008t0001g0272 a0001c0035t0005g0263 a0001c0038t0005g0270 a0002c0006t0010g0315 a0003c0033t0005g0265 a0008c0014t0001g0262 a0008c0014t0001g0273 a0008c0014t0020g0125 a0021c0031t0005g0264	10	332	0.0301	-185	c.-48 others(11): Show c.-4809_-4625del	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding		4560		chr10	TogoVar
LRRC38_chr1_13469973_13519003	13501431	CGGAATCT others(178): Show CGGAATCTCACTCTGTTGCCCAGGCTGGGGTGCAGTAGAGTGATCTCAGC TCACTCCAACTTCCAACTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCT CCCTAGCAGCTGGGATTACAGGTGCACGCCACCATGCCCGACTAATTTTT GTGGAGTTTTTTGTTTTTTGTTTGTTTGTTTGAGAT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02257.hp2 HG02451.hp2 others(14): Show HG02145.hp2 HG02257.hp2 HG02451.hp2 HG02559.hp2 HG02630.hp1 HG02647.hp2 HG02723.hp2 HG02818.hp1 HG02896.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp2 HG03486.hp1 HG03516.hp2 HG06807.hp1 NA19043.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0003c0004	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(4): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0003t0001 a0003c0004t0001 a0003c0004t0002 a0003c0004t0007	a0001c0001t0001g0233 a0001c0001t0001g0318 a0001c0001t0001g0340 others(13): Show a0001c0001t0001g0233 a0001c0001t0001g0318 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0347 a0001c0001t0001g0351 a0002c0002t0001g0344 a0002c0002t0001g0353 a0002c0002t0002g0348 a0002c0003t0001g0319 a0002c0003t0001g0349 a0002c0003t0001g0350 a0002c0003t0001g0354 a0003c0004t0001g0339 a0003c0004t0002g0016 a0003c0004t0007g0346	17	448	0.0380	-185	c.631 others(19): Show c.631+11347_631+11531del	LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding	1/1			chr1	TogoVar
LRRC38_chr1_13469973_13519003	13501502	GGGTTCAA others(178): Show GGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCTAGCAGCTGGGATTACAG GTGCACGCCACCATGCCCGACTAATTTTTGTGGAGTTTTTTGTTTTTTGT TTGTTTGTTTGAGATAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGT GGCACGATCTTGGCTCACTGCAACTTCCAACTCCCA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp2 HG00639.hp2 others(28): Show HG00423.hp1 HG00609.hp2 HG00639.hp2 HG01070.hp2 HG01071.hp2 HG01123.hp1 HG01168.hp1 HG01175.hp2 HG01257.hp1 HG01258.hp2 HG01515.hp2 HG01517.hp2 HG02055.hp2 HG02074.hp1 HG02083.hp2 HG02132.hp2 HG02293.hp1 HG02738.hp2 HG02922.hp2 HG03130.hp2 HG03654.hp2 HG03704.hp2 HG03834.hp1 HG04199.hp1 NA18940.hp1 NA18949.hp1 NA18956.hp2 NA18993.hp1 NA20129.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0002c0002 a0002c0003 others(2): Show a0001c0001 a0002c0002 a0002c0003 a0003c0004 a0006c0013	a0001c0001t0001 a0001c0001t0005 a0002c0002t0002 others(5): Show a0001c0001t0001 a0001c0001t0005 a0002c0002t0002 a0002c0002t0004 a0002c0003t0003 a0002c0003t0019 a0003c0004t0001 a0006c0013t0001	a0001c0001t0001g0084 a0001c0001t0001g0114 a0001c0001t0001g0116 others(28): Show a0001c0001t0001g0084 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0216 a0001c0001t0001g0320 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0005g0048 a0002c0002t0002g0103 a0002c0002t0002g0129 a0002c0002t0002g0144 a0002c0002t0002g0217 a0002c0002t0002g0221 a0002c0002t0002g0345 a0002c0002t0004g0128 a0002c0002t0004g0131 a0002c0003t0003g0119 a0002c0003t0003g0214 a0002c0003t0003g0215 a0002c0003t0019g0062 a0003c0004t0001g0338 a0006c0013t0001g0120	31	448	0.0692	-185	c.631 others(19): Show c.631+11276_631+11460del	LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding	1/1			chr1	TogoVar
MAD1L1_chr7_1810795_2237945	1939036	GGGGCCAG others(178): Show GGGGCCAGAGGCACACACACACACACACGGGCCAGAGCCGGGACCAGAGG CGCGCACACACACACGGGCCAGGGCCAGAGGCGCGCACACACACACGGGC CAGGGCCGGGACCAGAGGCGCACACACACATACGGGCCAGGGCCAGGACC AGAGGCGCTCACACACACACACACACACACGGGCCA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0012 a0002c0002t0002g0012	1	264	0.0038	-185	c.159 others(19): Show c.1597-2324_1597-2140del	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	16/18			chr7	TogoVar
MAEA_chr4_1284891_1345137	1333775	TCACCCCC others(178): Show TCACCCCCATGCCCACTCCCGTGCCCATGTGCCCACCCCTGCACCCACCC CATGCCCACCGTGTGCTCACCCCCCTGCCCACCCCCATGCCCGTGCTCAC CTCTGCACCCACCCCATGCCCACCCCCATGCCCACCTGTGCTCACCCCCA TGCCCACTCCCGTGCCCATGTGCCCACCCCTGCACC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0289 a0001c0003t0005g0289	1	388	0.0026	-185	c.765 others(16): Show c.765+924_765+1108del	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP3K15_chrX_19355059_19520508	19452223	GAGAAGAG others(178): Show GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAAGAGAAGAGAAGAGAAGAGA AGAGAGAAAAGAAAAGAGAAAAGAAAAGAAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0157 a0002c0003t0009g0157	1	163	0.0061	-185	c.995 others(17): Show c.995+4505_995+4689del	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28			chrX	TogoVar
MBD3L4_chr19_7032749_7045179	7035021	ACATAATT others(178): Show ACATAATTATGATATATAATTATATATAATTATATTATATATATTATATT ATTATAATATAATATATATAATATTATATTATATAATTATATATATTATA TATATATATTATATATTATAATATTATATATAATATATATTATATATATA TTATATTATATATATATAATATATTATATTATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	262	0.0038	-185	c.26 others(11): Show c.2655_*2839del	MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding		2727		chr19	TogoVar
MBOAT7_chr19_54168415_54194580	54172242	TCCTCCTC others(178): Show TCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCGGCTCCTCCTCCCTCA GACCCAGGAGTCCAGGCCCCCGGCTCCTCCTCCCTCAGACCCAGGAGTCC AGGCCCCCGGCTCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCGGCTC CTCCTCCCTCAGACCCAGGAGAACAGGCCCCCGGCG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0335 a0001c0001t0001g0335	1	373	0.0027	-185	c.16 others(11): Show c.1617_*1801del	MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding		1172		chr19	TogoVar
MGAM_chr7_141990879_142111747	142042808	AATATAAT others(178): Show AATATAATATCTAAATATAATATCTATATTATATATACATATAATATCTA AATATAATATCTACATTATATATACATATAATATCTAAATATAATATCTA TATTATATATACATATAATATCTAAATATAATATATATATTATATATACA TATAATATCTAAATATAATATATATATTATATATAC	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00735.hp2 HG01099.hp1 others(36): Show HG00597.hp2 HG00735.hp2 HG01099.hp1 HG01167.hp2 HG01169.hp1 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01361.hp1 HG01516.hp2 HG01884.hp2 HG01928.hp2 HG01975.hp2 HG01981.hp2 HG02015.hp1 HG02074.hp2 HG02083.hp2 HG02132.hp2 HG02280.hp2 HG03490.hp1 HG03492.hp1 HG03704.hp1 HG04184.hp1 HG04184.hp2 NA18612.hp1 NA18612.hp2 NA18947.hp2 NA18948.hp2 NA18951.hp2 NA18963.hp2 NA18969.hp2 NA18978.hp2 NA18990.hp1 NA19007.hp2 NA19011.hp1 NA19057.hp1 NA19074.hp2 NA19082.hp2 NA20805.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0006 a0008 a0019 a0021 a0041	a0001c0001 a0001c0011 a0001c0026 others(16): Show a0001c0001 a0001c0011 a0001c0026 a0001c0031 a0001c0069 a0001c0070 a0001c0071 a0001c0074 a0001c0076 a0001c0089 a0002c0002 a0002c0009 a0002c0072 a0003c0003 a0006c0064 a0008c0139 a0019c0035 a0021c0075 a0041c0077	a0001c0001t0001 a0001c0011t0001 a0001c0026t0001 others(16): Show a0001c0001t0001 a0001c0011t0001 a0001c0026t0001 a0001c0031t0001 a0001c0069t0001 a0001c0070t0001 a0001c0071t0001 a0001c0074t0001 a0001c0076t0001 a0001c0089t0001 a0002c0002t0001 a0002c0009t0001 a0002c0072t0001 a0003c0003t0001 a0006c0064t0001 a0008c0139t0001 a0019c0035t0001 a0021c0075t0001 a0041c0077t0001	a0001c0001t0001g0032 a0001c0001t0001g0196 a0001c0001t0001g0253 others(36): Show a0001c0001t0001g0032 a0001c0001t0001g0196 a0001c0001t0001g0253 a0001c0011t0001g0195 a0001c0011t0001g0208 a0001c0011t0001g0268 a0001c0011t0001g0302 a0001c0026t0001g0105 a0001c0031t0001g0207 a0001c0069t0001g0161 a0001c0070t0001g0276 a0001c0071t0001g0163 a0001c0074t0001g0134 a0001c0076t0001g0217 a0001c0089t0001g0197 a0002c0002t0001g0067 a0002c0009t0001g0135 a0002c0009t0001g0162 a0002c0009t0001g0189 a0002c0072t0001g0164 a0003c0003t0001g0050 a0003c0003t0001g0121 a0003c0003t0001g0124 a0003c0003t0001g0171 a0003c0003t0001g0192 a0003c0003t0001g0194 a0003c0003t0001g0200 a0003c0003t0001g0201 a0003c0003t0001g0205 a0003c0003t0001g0206 a0003c0003t0001g0209 a0003c0003t0001g0252 a0003c0003t0001g0267 a0006c0064t0001g0126 a0008c0139t0001g0070 a0019c0035t0001g0041 a0019c0035t0001g0083 a0021c0075t0001g0295 a0041c0077t0001g0184	39	316	0.1234	-185	c.249 others(19): Show c.2498+1985_2498+2169del	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MYOM2_chr8_2040046_2150456	2085826	GCGTGGCC others(178): Show GCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCT CTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTG ATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTG TGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTT	G G	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0003 a0003c0001t0003	a0003c0001t0003g0340 a0003c0001t0003g0340	1	403	0.0025	-185	c.164 others(17): Show c.1644+437_1644+621del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36			chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085827	CGTGGCCC others(178): Show CGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTC TGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGA TCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGT GATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0041 a0002c0041	a0002c0041t0001 a0002c0041t0001	a0002c0041t0001g0084 a0002c0041t0001g0084	1	403	0.0025	-185	c.164 others(17): Show c.1644+446_1644+630del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
NOL10_chr2_10565754_10694975	10587076	TACATATA others(178): Show TACATATATATACATATATATACACATATATATACATATATATACATATA TATACATATATACACATATATATACATATATACACATATATACACATATA TATACACATATATATACACATATATATACACATATATATATACATATATA TACATATATATATACATACATATATATATATACACA	T T	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	372	0.0027	-185	c.184 others(19): Show c.1844+1782_1844+1966del	NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding	19/20			chr2	TogoVar
NTM_chr11_131365615_132341822	131789451	GAAGAAGA others(178): Show GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	86	0.0116	-185	c.83- others(19): Show c.83-122080_83-121896del	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
OR2V2_chr5_181142586_181164285	181164100	TAAAATGC others(178): Show TAAAATGCGGCCTTGTGTGGTGGCTCATTGTGGTGGGTCAGAAAACGCGT GCAAGTTTCCGTAGTGTAGTGGTTATCACGTTCGCCTAACACGCGAAAGG TCCCCGGTTCGAAACCGGGCGGAAACAGAATCTTATGCTTTTCATCTCAT TACTTCAAATTTATTACAAGAAAACTAGCCTGGAAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0080 a0002c0002t0080	a0002c0002t0080g0044 a0002c0002t0080g0044	1	424	0.0024	-185	c.82 others(11): Show c.8211_*8395del	OR2V2	ENSG00000182613.3	transcript	ENST00000641492.1	protein_coding		4816		chr5	TogoVar
PACS2_chr14_105309748_105403147	105346488	CCCCCCAC others(178): Show CCCCCCACCGCCTGCACGGCTCCCCCACCCACACCCGCACAACTTCCCCC CCACCCCCTGCACAGTTCCCCCACTCCCACGCGCACGACTTCCCCCCCTA CCCCCTGCACGGCTCCCCCACCCCCACCCGCACGGCATCACCCCCACCGC CTGCACGGCTCCCCCACCCCCACCCGCACGGCATCA	C C	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0182 a0002c0002t0003g0182	1	210	0.0048	-185	c.120 others(17): Show c.120-1975_120-1791del	PACS2	ENSG00000179364.15	transcript	ENST00000447393.6	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
PARVB_chr22_44019302_44177939	44115141	AGATACAC others(178): Show AGATACACTGTTACTAACTAAGGCCCTGTACCAACACAGATACTTTGTTA CTAAGTAAGGCCCTGCACCAACACAGATACATTGTTACTAACTAAGGCCC TACACCAACACAGATACATTGTTACTAAGTAAGGCCCTGCACCAACACAG ATACATTGTTACTAACTAAGGCCCTGCACCAGAACG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0035 a0001c0011t0035	a0001c0011t0035g0326 a0001c0011t0035g0326	1	332	0.0030	-185	c.274 others(17): Show c.274-3890_274-3706del	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PCNX1_chr14_70902459_71120382	71068622	GTATAAAA others(178): Show GTATAAAAATATATATACATATATTGTTGCATGTATAGTCACAAGCAAAA TTACAGTTATTTTTTATGTGAACATATACATGCATATATGTATGTATATA TAATATACAAATAACATTTATATATTTTATATACATTATATATTATGTAT ACTTCTACACATACATACATATATGGATATATACAT	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03139.hp2 NA19076.hp1 HG02970.hp1 HG03139.hp2 NA19076.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0012c0021 a0001c0001 a0012c0021	a0001c0001t0002 a0001c0001t0042 a0012c0021t0017 a0001c0001t0002 a0001c0001t0042 a0012c0021t0017	a0001c0001t0002g0019 a0001c0001t0042g0034 a0012c0021t0017g0039 a0001c0001t0002g0019 a0001c0001t0042g0034 a0012c0021t0017g0039	3	352	0.0085	-185	c.485 others(19): Show c.4853-4921_4853-4737del	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	26/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PID1_chr2_229018973_229276287	229092053	AATCGTCC others(178): Show AATCGTCCTGGCTTGCACTGATTTCTTGTTGATATGAATGCCTACTGCAT TTACACACAGAACCAACAAGTTTACTAGCAAGGTGTTTCCTACTTGTCTT GGGTATGGGCTTATAACCCTCAAACTCATATTTTAGCTCAGTTCAATCTT TAAGCATTTCTTTAGTGCCTGGTCATCCAAGGGTCT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00733.hp1 HG01106.hp1 others(40): Show HG00642.hp2 HG00733.hp1 HG01106.hp1 HG01167.hp2 HG01243.hp1 HG01884.hp2 HG01891.hp2 HG02559.hp2 HG02602.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03491.hp1 HG03516.hp1 HG03579.hp1 HG04204.hp1 HG04228.hp2 NA18942.hp1 NA18959.hp1 NA18968.hp1 NA18968.hp2 NA19043.hp2 NA19080.hp2 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0027 a0001c0002t0001 a0001c0002t0020 a0001c0002t0022	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0031 others(40): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0031 a0001c0001t0001g0061 a0001c0001t0001g0072 a0001c0001t0001g0085 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0126 a0001c0001t0001g0199 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0002g0032 a0001c0001t0002g0039 a0001c0001t0002g0120 a0001c0001t0002g0135 a0001c0001t0002g0153 a0001c0001t0002g0169 a0001c0001t0002g0174 a0001c0001t0002g0179 a0001c0001t0003g0014 a0001c0001t0003g0030 a0001c0001t0003g0055 a0001c0001t0003g0075 a0001c0001t0003g0086 a0001c0001t0003g0127 a0001c0001t0003g0134 a0001c0001t0003g0158 a0001c0001t0003g0173 a0001c0001t0003g0240 a0001c0001t0004g0249 a0001c0001t0004g0254 a0001c0001t0005g0027 a0001c0001t0005g0141 a0001c0001t0006g0128 a0001c0001t0013g0074 a0001c0001t0016g0142 a0001c0001t0017g0033 a0001c0001t0027g0255 a0001c0002t0001g0242 a0001c0002t0020g0150 a0001c0002t0022g0218	43	256	0.1680	-185	c.177 others(19): Show c.177+63580_177+63764del	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	2/2			chr2	TogoVar
PKP3_chr11_389209_409908	401428	CGGCCCGC others(178): Show CGGCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCC CGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGTTCACACCCGCCCCGC TCACACCCGCCCCGCTCACCCCCGGCCCGCTCACCCCCGGCCCCGCTCAC ACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCG	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0025 a0001c0005t0001g0025	1	216	0.0046	-185	c.173 others(17): Show c.1737+725_1737+909del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLEKHA4_chr19_48832097_48873617	48834556	AGGGCTGG others(178): Show AGGGCTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCC TGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGT CCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAG GGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0022 a0002c0022	a0002c0022t0010 a0002c0022t0010	a0002c0022t0010g0051 a0002c0022t0010g0051	1	300	0.0033	-185	c.25 others(11): Show c.2548_*2732del	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding		2540		chr19	TogoVar
PLEKHN1_chr1_961482_980865	964546	GCGGGGAG others(178): Show GCGGGGAGGGGGGCGCGGGTCCGCAGTGGGGCTGTGGGAGGGGTCCGCGC GTCCGCAGTGGGGATGTGCTGCGGGGAGGGGGGCGCGGGTCCGCAGTGGG GATGTGCTGCCGGGAGGGGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCG GGAGGGGGGCGCGGGTCCGCAGTGGGGATGTGCTGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0162 a0001c0001t0005g0162	1	422	0.0024	-185	c.-19 others(11): Show c.-1985_-1801del	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1935		chr1	TogoVar
PPP2R2D_chr10_131896008_131964834	131939071	TACGGCAG others(178): Show TACGGCAGGCTGCATTCAGCAGACCTGCTCCAGAAAACACGGCAGGCTGC ATTCGGCAGACCTGCTCCAGAAAACACGGCAGGCTGCATTCGGCAGACCT GCTCCAGAAAACACGGCAGGCTGCATTCGGCAGACCTGCTCCAGAAAACA CGGCAGGCTGCATTCGGCAGACCTGCTCCAGAAAAC	T T	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18959.hp2 NA18612.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0332 a0001c0001t0002g0333	2	394	0.0051	-185	c.199 others(15): Show c.199-943_199-759del	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP2R2D_chr10_131896008_131964834	131939088	AGCAGACC others(178): Show AGCAGACCTGCTCCAGAAAACACGGCAGGCTGCATTCGGCAGACCTGCTC CAGAAAACACGGCAGGCTGCATTCGGCAGACCTGCTCCAGAAAACACGGC AGGCTGCATTCGGCAGACCTGCTCCAGAAAACACGGCAGGCTGCATTCGG CAGACCTGCTCCAGAAAACACGGCAGGCTGCATTCG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0258 a0001c0001t0081g0258	1	394	0.0025	-185	c.199 others(15): Show c.199-664_199-480del	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP2R2D_chr10_131896008_131964834	131958925	AAAGGTGT others(178): Show AAAGGTGTGTGCTGATCCCCCATCCCCCTGTGGAGATGAAGGCGTGTGCT GATCCGCCATCCCACTGTGGAGATGAAGGCGTGTGCTGATCCCCCATCCC CCTGTGGAGATGAAGGCGTGTGCTCATCCCCCATCCCCCTGTGGAGATGA AGGCGTGTGCTGATCCGCCATCCCACTGTGGAGATG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0344 a0001c0001t0077g0344	1	394	0.0025	-185	c.30 others(11): Show c.3004_*3188del	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	9/9	3004	INFO_REALIGN_3_PRIME	chr10	TogoVar
PRSS22_chr16_2847730_2863170	2857055	TCAGCGCC others(178): Show TCAGCGCCCAGTGAGGAGGGGTCCCAGTACCCAGTGAGGAGGGTCCCTCA GCGCCCAGCGAGAAGCCCCCAGCACCCAGTGAGAAGGGGTCCAGTGCCCA GTGGGAAGGGGTCCCAGCACCCAGTGAGGAGGGGTCCCCAGCGCCCAGTG AGGAGGGCTCCCCAGCGCCTAGTGAGGAGGGTTCCC	T T	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	412	0.0024	-185	c.83- others(13): Show c.83-392_83-208del	PRSS22	ENSG00000005001.10	transcript	ENST00000161006.8	protein_coding	1/5			chr16	TogoVar
PTPRT_chr20_42067756_43194906	43162622	TCTCCATG others(178): Show TCTCCATGGTCCATCACTCTGGAGGCAGCAAGGAGTCAAGCTTCCAGGAT CTGGTCTGGGGCTGCCTGGCTCCCCTTCCCTTCAGCCACACCAGTCAGTC ACCCATGGTTCCAACCACACCAAAGGGTTTGGCTTTTCATGATGACCCGC TGGACAGCAGCTTGGCTCAGGCTGCTCTTCTGTCTG	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0009 a0009	a0009c0017 a0009c0017	a0009c0017t0017 a0009c0017t0017	a0009c0017t0017g0022 a0009c0017t0017g0022	1	62	0.0161	-185	c.88+ others(17): Show c.88+26839_88+27023del	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
SBNO2_chr19_1102638_1179268	1148515	CCCTCCTT others(178): Show CCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCC CAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCC GCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACC CTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCAT	C C	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02976.hp1 HG01975.hp2 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0016 a0001c0002 a0001c0016	a0001c0002t0001 a0001c0016t0001 a0001c0002t0001 a0001c0016t0001	a0001c0002t0001g0111 a0001c0016t0001g0115 a0001c0002t0001g0111 a0001c0016t0001g0115	2	203	0.0099	-185	c.167 others(15): Show c.167+669_167+853del	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	3/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1148626	CCCTCCTT others(178): Show CCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCC CAGAAAACCTCCCGCCCCTTCCCATCCTCCTTCACCCCAGAAAACCTCCC GCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACC CTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCAC	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0005 a0001c0016t0005	a0001c0016t0005g0030 a0001c0016t0005g0030	1	203	0.0049	-185	c.167 others(15): Show c.167+558_167+742del	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	3/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1148663	CCCTCCTT others(178): Show CCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCATCCTCCTTCACCC CAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCC GCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACC CTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCAC	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	203	0.0049	-185	c.167 others(15): Show c.167+521_167+705del	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	3/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1148700	TCCTCCTT others(178): Show TCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCC CAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCC GCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACC CTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01106.hp1 HG02109.hp2 HG00323.hp2 HG01106.hp1 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0050 a0001c0001t0001g0110 a0001c0002t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0110 a0001c0002t0001g0044	3	203	0.0148	-185	c.167 others(15): Show c.167+484_167+668del	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	3/31			chr19	TogoVar
SEMA3C_chr7_80737538_80924051	80849273	CCCAACAA others(178): Show CCCAACAAGTAGCAACACTAAGTTTTAGCAACAGTGGCCATTAGTAAAAC TCCGATGCTTTTGCTGAGTAGACAGCTACATAAAAAGAAAATCACCATTG CTGACAAAATACTTTTCCTTAATTGTAAATCCTTAATATTTTGTTTTTAA ACTGATCAACTATAAGTTTCTTTTATCATTATCTCT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02129.hp1 NA18971.hp1 others(1): Show HG00597.hp1 HG02129.hp1 NA18971.hp1 NA18972.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0002c0010 others(1): Show a0001c0001 a0001c0003 a0002c0010 a0005c0016	a0001c0001t0001 a0001c0003t0002 a0002c0010t0001 others(1): Show a0001c0001t0001 a0001c0003t0002 a0002c0010t0001 a0005c0016t0001	a0001c0001t0001g0035 a0001c0003t0002g0034 a0002c0010t0001g0033 others(1): Show a0001c0001t0001g0035 a0001c0003t0002g0034 a0002c0010t0001g0033 a0005c0016t0001g0165	4	244	0.0164	-185	c.104 others(19): Show c.104-20713_104-20529del	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	2/17			chr7	TogoVar
SIGIRR_chr11_400716_419999	401428	CGGCCCGC others(178): Show CGGCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCC CGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGTTCACACCCGCCCCGC TCACACCCGCCCCGCTCACCCCCGGCCCGCTCACCCCCGGCCCCGCTCAC ACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	242	0.0041	-185	c.42 others(11): Show c.4283_*4467del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4287		chr11	TogoVar
SLC6A18_chr5_1220381_1251189	1238414	GGGGCCTC others(178): Show GGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGAGCTTGGGGCCTCAGGAA AGAGGTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTT TGGAGTGAGCCAGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGAGCTTG GGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGAGCCA	G G	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0003 a0010c0012t0003	a0010c0012t0003g0241 a0010c0012t0003g0241	1	456	0.0022	-185	c.732 others(15): Show c.732+358_732+542del	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SMCO1_chr3_196501879_196520346	196511724	CTTATGAG others(178): Show CTTATGAGGGAAACCTGCCTGGGCCGCCTAGATTGTCCTTATGAGGGAAA CCTGCCTGGGCCGCCTAGATTGTCGTTATGAGGGAAACCTGCCTGGGCCG CCTAGATTGTTGTTATGAGGGAAACCTGCCTGGGCTGCCTAGATTGTCTT TATGAGGGAAACTTGCCTGCGCCAAGTAGATTGTTG	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA18906.hp2 HG02615.hp1 NA18906.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0120 a0004c0004t0006g0121 a0004c0004t0006g0120 a0004c0004t0006g0121	2	398	0.0050	-185	c.51- others(15): Show c.51-2240_51-2056del	SMCO1	ENSG00000214097.5	transcript	ENST00000397537.3	protein_coding	1/2			chr3	TogoVar
SNTG2_chr2_945849_1372613	1012739	ACAGAGAG others(178): Show ACAGAGAGAAGGGTGGTCTGGAGAAGGATTTATATGGGCAGAGAGAAGGG TGGTCTGTAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGGAGAAG GATTTATATGGGCAGAGAGAAGAGTGGTCTGTAGAGGGATTTATAAGGGC AGAGAGAAGGGTGGTCTGGAGAAGGATTTATATGGG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0147 a0010c0012t0001g0147	1	190	0.0053	-185	c.72+ others(17): Show c.72+61691_72+61875del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1013425	GAGAGGGA others(178): Show GAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTAT AAGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATAAGGGCAGAGAGA AGGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGTA GAGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGT	G G	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0107 a0002c0005t0001g0107	1	190	0.0053	-185	c.72+ others(17): Show c.72+62394_72+62578del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1014095	GGGATTTA others(178): Show GGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAAGGATCTATATGG GCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATATGGGCAGAGAGAAGGG TGGTCTGGAGAAGGATTTATATGGGCAGAGAGAAGGGTGGTCTGTAGAGG GATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0116 a0004c0004t0001g0116	1	190	0.0053	-185	c.72+ others(17): Show c.72+63060_72+63244del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
ST3GAL1_chr8_133449848_133576887	133531036	TTTATGAT others(178): Show TTTATGATTATGCTCTGCAGCACCCCAAACACAGCAGTGGCTGTCCCCCG CTCTTAGTAGGGGATAGAAAAGCTGCCTTAAGAAATAGCTCTTACACATT CATATTTTTAGAAATAATGTGAAATGGGTGACTTTTGCTATAGTAACATT TGTGATTTTTCAATTGGTTTTAGTATATGTAATATA	T T	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0208 a0001c0003t0005g0208	1	332	0.0030	-185	c.-42 others(21): Show c.-429+14553_-429+14737del	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding	2/9			chr8	TogoVar

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Search Results (Total: 10000 hits)