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
DPH7_chr9_137549444_137583925	137565662	TCTGTCTG others(345): Show TCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGAC TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGA	T T	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	340	0.0029	-352	c.641 others(15): Show c.641-860_641-509del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567909	GTCTGTGA others(345): Show GTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCG GGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGG AAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGT CTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGG GTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAA GCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCT GTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGT GAC	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0295 a0001c0001t0002g0295	1	340	0.0029	-352	c.641 others(17): Show c.641-3107_641-2756del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPP6_chr7_154047398_154899285	154662514	GTAGTGTT others(345): Show GTAGTGTTCATATAGTCATGGTGAATCACCATGGCGTATCAGCCGTAGTG TTCATATAGTCATGGTGAATCACCATGGCGTATCGGCCGTAGTGTTCATA TAGTCATGGTGAATCACCATGGCGTATCGGCCATAGTGTTCATATAGTCA TGGTGAATCACCATGGCGTATTGGGCGTAGTGTTCATATAGTCATGGTGA ATCACCATGGCATATTGGCCGTAGTGTTCATATAGTCATGGTGAATCACC ATGGCGTATTGGCCATAGTGTTCATGTAGTCAAGATGAATCACCATGGTG TATTGGCGCTAGTATTCATATAATCATGATGAATCACCATAGCGTATTGG CCA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0017 a0001c0015t0017	a0001c0015t0017g0036 a0001c0015t0017g0036	1	38	0.0263	-352	c.681 others(17): Show c.681-6811_681-6460del	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	6/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
GPR89B_chr1_147923420_147998592	147949577	ACCCCCCC others(345): Show ACCCCCCCACCTCCCTCCAGGACCGGGCAGCTGACGGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCTTCGCGGACGGGGCAGCTGGCCGGGCAGAGGGGATCCT CACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGAGA GACGGCTGGCCGGGCAGGGGGCTGACCCCCCGACCTCCCTCCCGGACGGG GCAGCTTGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GAC	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02717.hp2 HG02922.hp2 others(1): Show HG02559.hp2 HG02717.hp2 HG02922.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 others(1): Show a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127	4	274	0.0146	-352	c.416 others(17): Show c.416-3761_416-3410del	GPR89B	ENSG00000188092.15	transcript	ENST00000314163.12	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
IBA57_chr1_228160804_228187257	228174160	GCTGTGGG others(345): Show GCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGC TGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTG TGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTG GGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGG CGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCG TGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTG GCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGC TCC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00423.hp2 others(46): Show HG00408.hp2 HG00423.hp1 HG00423.hp2 HG01109.hp1 HG01255.hp2 HG01261.hp2 HG01346.hp2 HG01496.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02135.hp2 HG02280.hp1 HG02615.hp2 HG02896.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03225.hp1 HG03927.hp1 HG04228.hp2 HG06807.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18944.hp1 NA18962.hp1 NA18966.hp1 NA18968.hp2 NA18980.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA19000.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19011.hp2 NA19030.hp2 NA19054.hp1 NA19060.hp2 NA19078.hp1 NA19079.hp2 NA19080.hp2 NA19087.hp2 NA19088.hp2 NA19091.hp1	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0001 a0003c0003 a0009c0013 a0001c0001 a0003c0003 a0009c0013	a0001c0001t0004 a0001c0001t0019 a0001c0001t0038 others(18): Show a0001c0001t0004 a0001c0001t0019 a0001c0001t0038 a0001c0001t0040 a0001c0001t0060 a0001c0001t0061 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0079 a0001c0001t0081 a0001c0001t0153 a0003c0003t0002 a0003c0003t0008 a0003c0003t0036 a0003c0003t0037 a0003c0003t0039 a0003c0003t0071 a0003c0003t0082 a0003c0003t0083 a0009c0013t0073	a0001c0001t0004g0001 a0001c0001t0004g0004 a0001c0001t0004g0016 others(37): Show a0001c0001t0004g0001 a0001c0001t0004g0004 a0001c0001t0004g0016 a0001c0001t0004g0020 a0001c0001t0004g0026 a0001c0001t0004g0028 a0001c0001t0004g0030 a0001c0001t0004g0082 a0001c0001t0004g0132 a0001c0001t0004g0138 a0001c0001t0004g0179 a0001c0001t0004g0184 a0001c0001t0019g0001 a0001c0001t0019g0020 a0001c0001t0019g0049 a0001c0001t0038g0028 a0001c0001t0038g0142 a0001c0001t0040g0030 a0001c0001t0040g0081 a0001c0001t0060g0004 a0001c0001t0061g0185 a0001c0001t0075g0028 a0001c0001t0076g0133 a0001c0001t0077g0026 a0001c0001t0079g0001 a0001c0001t0081g0026 a0001c0001t0153g0004 a0003c0003t0002g0001 a0003c0003t0002g0016 a0003c0003t0008g0001 a0003c0003t0008g0004 a0003c0003t0008g0020 a0003c0003t0008g0140 a0003c0003t0036g0004 a0003c0003t0037g0001 a0003c0003t0039g0001 a0003c0003t0071g0004 a0003c0003t0082g0004 a0003c0003t0083g0001 a0009c0013t0073g0016	49	416	0.1178	-352	c.342 others(15): Show c.342-528_342-177del	IBA57	ENSG00000181873.13	transcript	ENST00000366711.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
INSR_chr19_7107265_7299414	7185617	TGGATCAC others(345): Show TGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGTGAA ACCCTGTCTCTACTAAAAATACAAAAATTAGCTAGGTGTGCTGGTGCATG CCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCACGAGAATCACTTGAATC TGGGAGGTGGAGGCTGCAGTGAGCCATGATCGTGCCACTATACTCCAGCC TGGGCAACAAGTGCAAAATTCTGTCAAAAAAAAAAAAAAAAAAGAGAGAG AGAGACAAAGAGAGAGAGAAAAGGAAGGAAGGAAGGAAAAAAAAAAGGCT GGTTGTGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTG GGC	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0056 a0001c0056	a0001c0056t0021 a0001c0056t0021	a0001c0056t0021g0077 a0001c0056t0021g0077	1	300	0.0033	-352	c.653 others(16): Show c.653-1332_653-981del	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	2/21			chr19	TogoVar
KMO_chr1_241527378_241600642	241528390	GGAAAATA others(345): Show GGAAAATATATACATTAATTTCAGAATATATATATATATAATATATATAT ATTCTGAAATACTTGAATATATATATATTTCAAGTACACACAAAGCATTT ACACAAATTTACCACTTTATGGCCATACAATGAGTCTTAACCCGTTTCAC ATGTTTGAAAATCTATAGCACATATTAGCTGGCCTCACTGGAATTTTGCT AAAAACCAATAACAATAAGAAAACTAGGATGTGCCATGCATTTGGAACTT AAGAAATAAACCTGTATTCCACCCTGTACTGGAGGTACTAGCCAGCATGG AAAGAATCATTCAATCAGTCAGTAGCAGGGGGAGAGAGAGAGAGAGAGAG AGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0012	a0001c0004t0012g0363 a0001c0004t0012g0363	1	422	0.0024	-352	c.-40 others(11): Show c.-4054_-3703del	KMO	ENSG00000117009.12	transcript	ENST00000366559.9	protein_coding		3987		chr1	TogoVar
KNDC1_chr10_133155219_133231412	133222536	CGTGTGTG others(345): Show CGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCAGTGTGTGTG TGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTCTGTGTGTG TGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGTGTG AGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGCATGAGAGCCCA TCCAGGCATGCTCTTCCCGGCGTGTGTGCGTGTGCGTGAGAGCCCATCCA GGCATGCTCTTCCCAGTGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCT CTTCCCGGCGTGTGTGTGTGTGTGTGAGAGCCCATCCAGCCATGCTCTTC CCA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02109.hp2 HG02572.hp2 others(1): Show HG00735.hp2 HG02109.hp2 HG02572.hp2 NA18906.hp2	a0001 a0003 a0020 a0001 a0003 a0020	a0001c0001 a0003c0015 a0003c0049 others(1): Show a0001c0001 a0003c0015 a0003c0049 a0020c0055	a0001c0001t0002 a0003c0015t0002 a0003c0049t0002 others(1): Show a0001c0001t0002 a0003c0015t0002 a0003c0049t0002 a0020c0055t0002	a0001c0001t0002g0247 a0003c0015t0002g0238 a0003c0049t0002g0023 others(1): Show a0001c0001t0002g0247 a0003c0015t0002g0238 a0003c0049t0002g0023 a0020c0055t0002g0241	4	332	0.0121	-352	c.501 others(19): Show c.5019-2109_5019-1758del	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF1_chr16_848634_975984	950287	CAATGACA others(345): Show CAATGACAAAGTCAGCCAATGACAGAGTCAGAGACAACGACAGAGTCAGC CAACAACAGTCAGCCAACGACAGAGTCAGGCCAACGACAGAGTCAGCCAA TGACAGAGTCAGAGCCAACGACAGAGTCAGAGACAACGACAGAGTTAGAG ACAACGACAGAGTCAGCCAACGACAGAGTCAGCCAACGACAGAGTCAGAG CCAACGACAGAGTCAGAGATGACAGAGTCAGAGACGACAGAGTCAGAGCC AATGACAGAGTCAGCCAATGACAGAGTCAGAGCCAACGACAGAGTCAGCC AATGACAGAGTCAGAGACAACGACAGAGTTAGAGACAACGACAGAGTCAG CCA	C C	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0076 a0002c0016t0001g0076	1	294	0.0034	-352	c.503 others(17): Show c.503+3718_503+4069del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LRRC74A_chr14_76821408_76875304	76821735	GGGAGGTG others(345): Show GGGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCTGGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGATCAGC ACCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCGCCCGGCCAGACGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCA GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGT CCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01243.hp1 HG02257.hp2 HG01167.hp2 HG01243.hp1 HG02257.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0004c0006 a0003c0003 a0004c0006	a0003c0003t0001 a0004c0006t0001 a0003c0003t0001 a0004c0006t0001	a0003c0003t0001g0375 a0004c0006t0001g0376 a0004c0006t0001g0377 a0003c0003t0001g0375 a0004c0006t0001g0376 a0004c0006t0001g0377	3	408	0.0074	-352	c.-49 others(11): Show c.-4962_-4611del	LRRC74A	ENSG00000100565.16	transcript	ENST00000689127.1	protein_coding		4672		chr14	TogoVar
MTA3_chr2_42563632_42761946	42605247	GCTGGCCG others(345): Show GCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCCTCACCTCCCGGACG GGGCGGCTGGCGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGG CGA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03130.hp2 HG03139.hp2 others(1): Show HG02622.hp2 HG03130.hp2 HG03139.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0004g0225 others(1): Show a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0004g0225 a0001c0001t0004g0275	4	312	0.0128	-352	c.191 others(17): Show c.191-4151_191-3800del	MTA3	ENSG00000057935.14	transcript	ENST00000405094.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
NLGN4X_chrX_5885042_6233867	5975867	ATTTAATT others(345): Show ATTTAATTTTTTAAATATTAAGATGAGACACCAAAGGAAGAAAAAGTAGT CTCCTACCTGAAGGCTCCATCTCTCTTTTCTTCTCCTACCTTCCCCACCT TTTCCTTTTGCCACCAATTCACAAAGCAGATTCCAGTCTCCTTATTGAGC CTACAACTGAAATGTTTCTTTTGGGAAAATATCTTGGCAAAAGAAAGGAC TGGCAGTTAAACTCCAGTCAACACAAAGCAGCATCTATTAATAATCATCT GATTTCAAAGTATGGGCATCTTCTGTTTTAGCTATCTTCTCTGACTTTAA TAATCACAATATTTTCAACAAACACACATTCTAATTTTTTTGGATGTTCC TTG	A A	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG04228.hp1 HG03492.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0064 a0001c0001t0001g0016 a0001c0001t0001g0064	2	128	0.0156	-352	c.625 others(19): Show c.625+53061_625+53412del	NLGN4X	ENSG00000146938.16	transcript	ENST00000381095.8	protein_coding	3/5			chrX	TogoVar
NOC4L_chr12_132139457_132157468	132148957	ACTCCTAC others(345): Show ACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCT ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCG	A A	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0138 a0001c0003t0001g0138	1	294	0.0034	-352	c.901 others(14): Show c.901+66_901+417del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
OTUD7B_chr1_149932812_150015726	149957135	GCTTTTCT others(345): Show GCTTTTCTGCTCTGGTTTCTCCCCATCTTTGTGGTTTTATCTACCTTTGG TCTTTGATGATGGTGACATACAGATGGGGTATTGGTGTGGATGTCCTTTC TGTTAGTTTTCCTTCTAACAGTCAGGACCCTCAGCTGCAGGTCTGTTGGA GTTTGCTGGAGGTCCACTCCAGACCCTGTTTGCCTGGGTATCACCAGTGG AGGCTGCAGAACAGCAAATATTGCAGAACGGCAAATGTTGCTGCCTGATC CTTTCTCTGGAAGCTTCATCTCAGAGGGGCACCCGGCTGTATAAGATGTC AGTCAGCCCCTACTGGGAGGTGTCTCCCAATTAGGCTACTCGGGGGTCAG GGA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02886.hp2 NA18522.hp1 others(2): Show HG02258.hp1 HG02886.hp2 NA18522.hp1 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0023 a0001c0001t0049 a0001c0001t0013 a0001c0001t0023 a0001c0001t0049	a0001c0001t0013g0119 a0001c0001t0013g0122 a0001c0001t0013g0123 others(2): Show a0001c0001t0013g0119 a0001c0001t0013g0122 a0001c0001t0013g0123 a0001c0001t0023g0120 a0001c0001t0049g0121	5	278	0.0180	-352	c.845 others(17): Show c.845+2197_845+2548del	OTUD7B	ENSG00000264522.6	transcript	ENST00000581312.6	protein_coding	7/11			chr1	TogoVar
PPP6R2_chr22_50338327_50450090	50344675	TCCAGTCA others(345): Show TCCAGTCAATTCCCCCTAGTCAGTGCCCCCTCCAGTCAGTTCCCCCCCAG TCAGTGCCTCCTCCAGTCAGTTTCCCCCAGTCAGTGCCTCCTCCAGTCAG TTTCCCCCAGTCAGTGCCCCCTCCAGTCAGTTCCCCCCCCAGTCAGTGCC CCCTCTAGTCAGTTCCCCCCCAGTCAGTGCCCCCTCTAGTCAGTTCCCCC CCAGTCAGTGCCCCCTCTAGTCAGTTCCCCCCCAGTCAGTGCCCCCTCTA GTCAGTTCCCCCCCAGTCAGTGCCCCCTCTAGTCAGTTTCCCCCCAGTCA GTGCCTCCTCCAGTCAGTTTCCCCCAGTCAGTGCCTCCTCCAGTCAGTTT CCC	T T	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0012 a0002c0004t0012	a0002c0004t0012g0229 a0002c0004t0012g0230 a0002c0004t0012g0229 a0002c0004t0012g0230	2	340	0.0059	-352	c.-14 others(19): Show c.-148+1133_-148+1484del	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PRDM15_chr21_41793225_41884344	41806006	TCACCACC others(345): Show TCACCACCACCATCACCACCACCACCATCACCACCACCATCACCACCACC ACCATCACCATCACCACCACCATCACCACCACCACCATCACCACCACCAT CACCACCACCACCACCACCATCACCACCACCATCACCACCACCACCACCA TCACCATCACCACCACCATCACCACCACCACCATCACCACCACCACCATC ACCATCACCATCACCATCACCACCATCACTACCACCATCACCACCACCAC CATCACCACCACCCATCACCACCACCACCATCACCATCACCACCACCATC ACCACCACCACCATCACCACCACCACCATCACCATCACCACCACCATCAC CAC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0228 a0001c0001t0004g0228	1	406	0.0025	-352	c.265 others(19): Show c.2653-1744_2653-1393del	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23			chr21	TogoVar
RPH3AL_chr17_207389_357807	288485	TCTCTCCA others(345): Show TCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTCGC ACCCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGA CCTCACACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGT CAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTC CACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTCGCACCCTC TCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCGCAC CCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCGC ACC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02572.hp2 NA18906.hp1 HG02559.hp1 HG02572.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0001t0001 a0001c0001t0006 a0001c0001t0010	a0001c0001t0001g0119 a0001c0001t0006g0095 a0001c0001t0010g0129 a0001c0001t0001g0119 a0001c0001t0006g0095 a0001c0001t0010g0129	3	133	0.0226	-352	c.352 others(17): Show c.352-6983_352-6632del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SDHA_chr5_213320_262082	261233	CAGCATTA others(345): Show CAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGC TCCGCCTCCCCGCAGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGC ATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTGAGCTCCG CCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTA CCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCTC CCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGT GTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGC CAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0167 a0001c0002t0001g0167	1	266	0.0038	-352	c.48 others(11): Show c.4814_*5165del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4152		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070171	CAGCCCCC others(345): Show CAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTT ATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCC CCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCAGTGAGC CCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCA CACGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGCATC ACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATG CAGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCA GTG	C C	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0004 a0001c0017t0004	a0001c0017t0004g0021 a0001c0017t0004g0021	1	118	0.0085	-352	c.224 others(19): Show c.2241+3110_2241+3461del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SMIM14_chr4_39541336_39643865	39619190	TTAATTTA others(345): Show TTAATTTATTCTATATATCAATAAATATAATTTATTCTATATATCAATAA ATATAATTTATTCTATATATCAATAAATATAATTTATTCTATATATCAAT AAATATAATTTATTCTATATATCAATAAATATAATTTATTCTATATATCA ATAAATATAATTTATTCTATATATCAATAAATATAATTTATTCTATATAT CAATAAATATAATTTATTCTATATCAATAAATATAATTTATTCTATATCA ATAAATATAATTTATTCTATATCAATAAATATAATTTATTCTATATCAAT AAATATAATTTATTCTATATCAATAAATATAATTTATTCTATATCAATAA ATA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	344	0.0029	-352	c.-35 others(19): Show c.-35-14362_-35-14011del	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	1/4			chr4	TogoVar
SYT17_chr16_19163240_19273332	19219107	AAATAATA others(345): Show AAATAATAAAACAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCAT CCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATT GCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAATAATAAT AAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(282): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18986.hp1 NA18986.hp2 NA18991.hp1 NA18997.hp1 NA18997.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19075.hp1 NA19075.hp2 NA19079.hp1 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0012 a0001c0013 a0001c0014 a0001c0015 a0002c0011 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(84): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0044 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0014 a0001c0002t0018 a0001c0002t0022 a0001c0002t0030 a0001c0003t0016 a0001c0003t0062 a0001c0004t0022 a0001c0004t0045 a0001c0005t0016 a0001c0006t0002 a0001c0007t0006 a0001c0009t0005 a0001c0010t0043 a0001c0012t0001 a0001c0013t0003 a0001c0014t0027 a0001c0015t0021 a0002c0011t0001 a0003c0008t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(282): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0262 a0001c0001t0001g0267 a0001c0001t0001g0275 a0001c0001t0001g0284 a0001c0001t0001g0311 a0001c0001t0001g0313 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0086 a0001c0001t0002g0119 a0001c0001t0002g0146 a0001c0001t0002g0193 a0001c0001t0002g0245 a0001c0001t0002g0247 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0283 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0310 a0001c0001t0002g0324 a0001c0001t0003g0084 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0106 a0001c0001t0003g0127 a0001c0001t0003g0147 a0001c0001t0003g0192 a0001c0001t0003g0203 a0001c0001t0003g0223 a0001c0001t0003g0244 a0001c0001t0003g0255 a0001c0001t0003g0291 a0001c0001t0003g0305 a0001c0001t0003g0308 a0001c0001t0004g0015 a0001c0001t0004g0072 a0001c0001t0004g0100 a0001c0001t0004g0114 a0001c0001t0004g0133 a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0004g0154 a0001c0001t0004g0176 a0001c0001t0004g0303 a0001c0001t0004g0312 a0001c0001t0005g0065 a0001c0001t0005g0067 a0001c0001t0005g0117 a0001c0001t0005g0194 a0001c0001t0005g0204 a0001c0001t0005g0206 a0001c0001t0005g0210 a0001c0001t0005g0225 a0001c0001t0005g0273 a0001c0001t0005g0280 a0001c0001t0005g0298 a0001c0001t0006g0066 a0001c0001t0006g0217 a0001c0001t0006g0236 a0001c0001t0006g0253 a0001c0001t0006g0268 a0001c0001t0006g0281 a0001c0001t0006g0300 a0001c0001t0006g0306 a0001c0001t0007g0020 a0001c0001t0007g0101 a0001c0001t0007g0103 a0001c0001t0007g0131 a0001c0001t0007g0139 a0001c0001t0007g0152 a0001c0001t0007g0166 a0001c0001t0007g0173 a0001c0001t0007g0174 a0001c0001t0008g0083 a0001c0001t0008g0167 a0001c0001t0008g0168 a0001c0001t0008g0198 a0001c0001t0008g0222 a0001c0001t0008g0254 a0001c0001t0008g0276 a0001c0001t0009g0257 a0001c0001t0009g0259 a0001c0001t0009g0260 a0001c0001t0009g0272 a0001c0001t0009g0285 a0001c0001t0010g0032 a0001c0001t0010g0038 a0001c0001t0010g0055 a0001c0001t0010g0056 a0001c0001t0010g0060 a0001c0001t0010g0062 a0001c0001t0011g0081 a0001c0001t0011g0213 a0001c0001t0011g0221 a0001c0001t0011g0309 a0001c0001t0012g0022 a0001c0001t0012g0226 a0001c0001t0012g0258 a0001c0001t0012g0282 a0001c0001t0012g0296 a0001c0001t0013g0277 a0001c0001t0014g0006 a0001c0001t0014g0046 a0001c0001t0014g0052 a0001c0001t0015g0129 a0001c0001t0015g0219 a0001c0001t0017g0208 a0001c0001t0017g0265 a0001c0001t0017g0266 a0001c0001t0018g0181 a0001c0001t0019g0021 a0001c0001t0019g0211 a0001c0001t0021g0116 a0001c0001t0023g0034 a0001c0001t0023g0228 a0001c0001t0024g0037 a0001c0001t0024g0315 a0001c0001t0025g0061 a0001c0001t0025g0316 a0001c0001t0026g0007 a0001c0001t0026g0026 a0001c0001t0028g0001 a0001c0001t0028g0045 a0001c0001t0029g0005 a0001c0001t0029g0051 a0001c0001t0030g0047 a0001c0001t0031g0002 a0001c0001t0031g0003 a0001c0001t0032g0299 a0001c0001t0033g0256 a0001c0001t0035g0092 a0001c0001t0036g0177 a0001c0001t0037g0153 a0001c0001t0039g0187 a0001c0001t0040g0156 a0001c0001t0041g0202 a0001c0001t0042g0012 a0001c0001t0044g0297 a0001c0001t0047g0288 a0001c0001t0048g0144 a0001c0001t0049g0164 a0001c0001t0050g0286 a0001c0001t0051g0319 a0001c0001t0052g0318 a0001c0001t0053g0320 a0001c0001t0055g0029 a0001c0001t0056g0059 a0001c0001t0057g0227 a0001c0001t0058g0058 a0001c0001t0059g0033 a0001c0001t0060g0030 a0001c0001t0061g0036 a0001c0001t0063g0031 a0001c0001t0064g0035 a0001c0001t0065g0057 a0001c0001t0066g0044 a0001c0001t0067g0040 a0001c0001t0068g0024 a0001c0001t0069g0025 a0001c0001t0070g0042 a0001c0001t0071g0041 a0001c0001t0072g0049 a0001c0001t0073g0043 a0001c0001t0074g0048 a0001c0002t0001g0016 a0001c0002t0001g0121 a0001c0002t0001g0183 a0001c0002t0001g0229 a0001c0002t0002g0274 a0001c0002t0002g0292 a0001c0002t0004g0077 a0001c0002t0005g0079 a0001c0002t0005g0224 a0001c0002t0006g0190 a0001c0002t0014g0050 a0001c0002t0018g0018 a0001c0002t0022g0314 a0001c0002t0030g0004 a0001c0003t0016g0199 a0001c0003t0016g0289 a0001c0003t0062g0317 a0001c0004t0022g0039 a0001c0004t0045g0302 a0001c0005t0016g0008 a0001c0006t0002g0249 a0001c0007t0006g0322 a0001c0009t0005g0287 a0001c0010t0043g0263 a0001c0012t0001g0271 a0001c0013t0003g0074 a0001c0014t0027g0023 a0001c0015t0021g0269 a0002c0011t0001g0124 a0003c0008t0001g0323	285	324	0.8796	-352	c.952 others(17): Show c.952-3924_952-3573del	SYT17	ENSG00000103528.17	transcript	ENST00000355377.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
TMEM255B_chr13_113754226_113821995	113790120	GGACATCC others(345): Show GGACATCCTAGTGCTGGACTGACCGGGCACATGGACATCCTAACACTGAA CTGACCAGACACGTGGACATCCTAACACTGAACTGACCGGGCATGTGGAC ATCCTAGCGCTGGACTGACCGGGCACGTGGGCATCCTAACACTGAACTGA CCAGACACGTGGACATCCTAGCACTGAACTGACTGGACACATGGACATCC TAGCTGTGGACTGACCGGACACATAGACATCCTAGCACTGAACTGACTGG ACACATGGACATCCTAGCTGTGGACTGACCGGACACGTGGACATCCTAGC ACTGAACTGACTGGACACATGGACATCCTAGCTGTGGACTGACCGGACAC GTA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp2 HG00621.hp1 others(100): Show HG00423.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01975.hp1 HG01978.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02109.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02293.hp1 HG02559.hp2 HG02602.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02976.hp1 HG03453.hp2 HG03471.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18940.hp2 NA18943.hp1 NA18944.hp1 NA18948.hp1 NA18951.hp1 NA18952.hp2 NA18961.hp2 NA18966.hp2 NA18977.hp1 NA18980.hp2 NA18982.hp2 NA18990.hp1 NA18993.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19054.hp2 NA19055.hp1 NA19060.hp2 NA19062.hp1 NA19064.hp2 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19081.hp2 NA19084.hp2 NA19088.hp2 NA20805.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0007 a0008 a0009	a0001c0001 a0001c0002 a0001c0007 others(7): Show a0001c0001 a0001c0002 a0001c0007 a0001c0017 a0002c0003 a0003c0005 a0004c0008 a0007c0013 a0008c0012 a0009c0019	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(63): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0030 a0001c0001t0061 a0001c0001t0067 a0001c0001t0068 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0080 a0001c0001t0081 a0001c0001t0083 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0101 a0001c0001t0102 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0117 a0001c0001t0130 a0001c0001t0131 a0001c0001t0171 a0001c0002t0018 a0001c0002t0041 a0001c0007t0005 a0001c0017t0147 a0002c0003t0123 a0003c0005t0001 a0003c0005t0084 a0003c0005t0094 a0003c0005t0098 a0004c0008t0001 a0004c0008t0082 a0004c0008t0100 a0007c0013t0172 a0008c0012t0076 a0009c0019t0020	a0001c0001t0001g0016 a0001c0001t0001g0065 a0001c0001t0001g0149 others(96): Show a0001c0001t0001g0016 a0001c0001t0001g0065 a0001c0001t0001g0149 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0003g0016 a0001c0001t0003g0055 a0001c0001t0003g0145 a0001c0001t0003g0158 a0001c0001t0003g0174 a0001c0001t0003g0196 a0001c0001t0003g0208 a0001c0001t0003g0225 a0001c0001t0005g0137 a0001c0001t0005g0188 a0001c0001t0006g0015 a0001c0001t0006g0097 a0001c0001t0006g0147 a0001c0001t0006g0181 a0001c0001t0006g0198 a0001c0001t0009g0064 a0001c0001t0009g0088 a0001c0001t0009g0221 a0001c0001t0009g0222 a0001c0001t0010g0015 a0001c0001t0012g0011 a0001c0001t0012g0142 a0001c0001t0020g0170 a0001c0001t0021g0012 a0001c0001t0022g0130 a0001c0001t0022g0176 a0001c0001t0023g0013 a0001c0001t0024g0132 a0001c0001t0024g0230 a0001c0001t0030g0180 a0001c0001t0030g0189 a0001c0001t0061g0050 a0001c0001t0067g0223 a0001c0001t0068g0214 a0001c0001t0071g0058 a0001c0001t0072g0220 a0001c0001t0073g0134 a0001c0001t0074g0159 a0001c0001t0075g0041 a0001c0001t0080g0197 a0001c0001t0081g0191 a0001c0001t0083g0199 a0001c0001t0085g0139 a0001c0001t0086g0184 a0001c0001t0087g0209 a0001c0001t0088g0144 a0001c0001t0089g0192 a0001c0001t0090g0193 a0001c0001t0091g0167 a0001c0001t0092g0128 a0001c0001t0093g0152 a0001c0001t0095g0179 a0001c0001t0096g0175 a0001c0001t0097g0211 a0001c0001t0101g0131 a0001c0001t0102g0143 a0001c0001t0104g0177 a0001c0001t0105g0153 a0001c0001t0106g0155 a0001c0001t0107g0210 a0001c0001t0108g0129 a0001c0001t0109g0133 a0001c0001t0110g0183 a0001c0001t0111g0229 a0001c0001t0112g0150 a0001c0001t0117g0146 a0001c0001t0130g0124 a0001c0001t0131g0172 a0001c0001t0171g0205 a0001c0002t0018g0141 a0001c0002t0041g0185 a0001c0007t0005g0019 a0001c0007t0005g0234 a0001c0017t0147g0200 a0002c0003t0123g0040 a0003c0005t0001g0135 a0003c0005t0084g0151 a0003c0005t0094g0148 a0003c0005t0098g0136 a0004c0008t0001g0140 a0004c0008t0082g0156 a0004c0008t0100g0138 a0007c0013t0172g0206 a0008c0012t0076g0202 a0009c0019t0020g0169	103	260	0.3962	-352	c.253 others(17): Show c.253-5017_253-4666del	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
TUBGCP2_chr10_133273635_133313872	133291919	TCCGTGTC others(345): Show TCCGTGTCCCCCATGTCCCTCCGTGTCCCTCCGTGTCCCCGTGTCCCGGG GAGCCCTACCTGTACGGGAGAGGGCAGCACGCACCCTCCGTGTCCCCCAT GTCCCTCTGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCTCCGTG TCCCCCGTGTCCCTCCGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTC CCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGC ATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCATGTCCCCGTG TCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGT CCC	T T	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0222 a0001c0015t0001g0222	1	284	0.0035	-352	c.121 others(17): Show c.1214+228_1214+579del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
TUBGCP2_chr10_133273635_133313872	133291948	TCCGTGTC others(345): Show TCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCA CGCACCCTCCGTGTCCCCCATGTCCCTCTGTGTCCCTCCGTGTCCCTCCG TGTCCCCCATGTCCCTCCGTGTCCCCCGTGTCCCTCCGTGTCCCTCCGTG TCCCTCCGTGTCCCCCATGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCT ACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCGTGTCCCTC CGTGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAG GGCAGCATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCATGTC CCC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01257.hp1 HG01258.hp2 HG00738.hp1 HG01257.hp1 HG01258.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0021 a0001c0001 a0007c0021	a0001c0001t0001 a0007c0021t0001 a0001c0001t0001 a0007c0021t0001	a0001c0001t0001g0011 a0007c0021t0001g0157 a0001c0001t0001g0011 a0007c0021t0001g0157	3	284	0.0106	-352	c.121 others(17): Show c.1214+199_1214+550del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
U2SURP_chr3_142996570_143065725	143047276	CCCCCCCA others(345): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGAC CCCCCCTCCCCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACT GGGCGGCTGACCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGG GGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGAGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGC TGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGC TGA	C C	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	378	0.0027	-352	c.254 others(19): Show c.2545-3656_2545-3305del	U2SURP	ENSG00000163714.18	transcript	ENST00000473835.7	protein_coding	24/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
U2SURP_chr3_142996570_143065725	143047284	CCTCCCTC others(345): Show CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCTC CCCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACTGGGCGGCT GACCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGACTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGA GCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCC CCT	C C	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0142 a0004c0007t0001g0142	1	378	0.0027	-352	c.254 others(19): Show c.2545-3653_2545-3302del	U2SURP	ENSG00000163714.18	transcript	ENST00000473835.7	protein_coding	24/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ZCCHC2_chr18_62518025_62583579	62581322	CAGGTGGA others(345): Show CAGGTGGACCCCTCCCGAGATGGTGTCACAGCGCTGTGGAAGGCCAGGTG GACCCCTCCCGAGACGGTGTCACAGTGCTGTGGAAGGCGAGGTGGACCCC TCCCGAGATGGTGTCACAGTGCTGTGGAAGGCGAGGTGGACCCCTCCTGA GATGGTGTCACAGTGCTGTGGAAGGCGAGGTGGACCCCTCCCGAGATGGT GTCACAGCGCTGTGGAAGGCCAGGTGGACCCCTCCCGAGATGGTGTCACA GCGCTGTGGAAGGCCAGGTGGACCCCTCCCGAGATGGTGTCACAGCGCTG TGGAAGGCCAGGTGGACCCCTCCCGAGATGGTGTCACAGTGCTGTGGAAG GCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG01516.hp2 HG01517.hp1 others(6): Show HG00733.hp2 HG01516.hp2 HG01517.hp1 HG02572.hp1 HG02717.hp1 HG02738.hp2 HG02818.hp1 NA20752.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0015 a0002c0009 a0001c0015 a0002c0009	a0001c0015t0006 a0002c0009t0004 a0002c0009t0006 others(1): Show a0001c0015t0006 a0002c0009t0004 a0002c0009t0006 a0002c0009t0018	a0001c0015t0006g0068 a0001c0015t0006g0072 a0001c0015t0006g0073 others(6): Show a0001c0015t0006g0068 a0001c0015t0006g0072 a0001c0015t0006g0073 a0002c0009t0004g0298 a0002c0009t0006g0082 a0002c0009t0006g0238 a0002c0009t0006g0260 a0002c0009t0018g0261 a0002c0009t0018g0286	9	312	0.0289	-352	c.47 others(11): Show c.4744_*5095del	ZCCHC2	ENSG00000141664.10	transcript	ENST00000269499.10	protein_coding		2744		chr18	TogoVar
ZCCHC2_chr18_62518025_62583579	62581441	TGCTGTGG others(345): Show TGCTGTGGAAGGCGAGGTGGACCCCTCCTGAGATGGTGTCACAGTGCTGT GGAAGGCGAGGTGGACCCCTCCCGAGATGGTGTCACAGCGCTGTGGAAGG CCAGGTGGACCCCTCCCGAGATGGTGTCACAGCGCTGTGGAAGGCCAGGT GGACCCCTCCCGAGATGGTGTCACAGCGCTGTGGAAGGCCAGGTGGACCC CTCCCGAGATGGTGTCACAGTGCTGTGGAAGGCGAGGTGGACCCCTCCCG AGATGGTGTCACAGCGCTGTGGAAGGCCAGGTGGACCCCTCCCGAGATGG TGTCACAGCGCTGTGGAAGGCCAGGTGGACCCCTCCCGAGATGGTGTCAC AGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02257.hp1 HG02258.hp1 others(19): Show HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02559.hp2 HG02622.hp2 HG02647.hp1 HG02818.hp2 HG02897.hp2 HG02970.hp1 HG02976.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG04228.hp1 HG06807.hp1 NA19030.hp1 NA19030.hp2	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0019	a0001c0006 a0001c0018 a0001c0041 others(3): Show a0001c0006 a0001c0018 a0001c0041 a0002c0013 a0009c0028 a0019c0047	a0001c0006t0004 a0001c0006t0006 a0001c0018t0006 others(5): Show a0001c0006t0004 a0001c0006t0006 a0001c0018t0006 a0001c0041t0004 a0002c0013t0004 a0002c0013t0006 a0009c0028t0004 a0019c0047t0006	a0001c0006t0004g0111 a0001c0006t0004g0112 a0001c0006t0004g0141 others(19): Show a0001c0006t0004g0111 a0001c0006t0004g0112 a0001c0006t0004g0141 a0001c0006t0004g0143 a0001c0006t0004g0169 a0001c0006t0004g0171 a0001c0006t0004g0172 a0001c0006t0004g0173 a0001c0006t0004g0174 a0001c0006t0004g0175 a0001c0006t0004g0176 a0001c0006t0004g0190 a0001c0006t0006g0189 a0001c0006t0006g0214 a0001c0018t0006g0215 a0001c0018t0006g0216 a0001c0041t0004g0207 a0002c0013t0004g0016 a0002c0013t0006g0208 a0002c0013t0006g0209 a0009c0028t0004g0187 a0019c0047t0006g0299	22	312	0.0705	-352	c.48 others(11): Show c.4863_*5214del	ZCCHC2	ENSG00000141664.10	transcript	ENST00000269499.10	protein_coding		2863		chr18	TogoVar
ZFYVE28_chr4_2264597_2423645	2396329	GGGGGTGT others(345): Show GGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGCCATAAGG CGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGACACAAGG CGGGGTGTCTGAGCTGATGGGACGGGCCATCCTGCAGAGGGGACACAAGG TGGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGCCATAAG GCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGCCACAAG GCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGACACAAG GCGGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGGGCCACAA GGC	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0009 a0009	a0009c0041 a0009c0041	a0009c0041t0003 a0009c0041t0003	a0009c0041t0003g0258 a0009c0041t0003g0258	1	290	0.0035	-352	c.39+ others(17): Show c.39+21604_39+21955del	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	1/12			chr4	TogoVar
ZNF516_chr18_76352682_76500242	76393881	GAAGCCGG others(345): Show GAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTG GGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGG GAAGGCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCA GGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTG GGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAA GCC	G G	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0023 a0001c0001t0013g0023	1	346	0.0029	-352	c.181 others(21): Show c.1811-13930_1811-13579del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
B3GNTL1_chr17_82937149_83056770	82971667	CAGAAGGA others(344): Show CAGAAGGACCTGGTGCCCACCACACCACACCACAGGGGCCAGAAGGACCT GGTGCCGACCACACCACACCACAGGGGCCAGAAGGACCTGGTGCCGACCA CACCACACCACAGGGGCCAGAAGGACCTGGTGCCCACCACACCACACCAC AGGGGCCAGAAGGACCTGGTGCCGACCACACCACACCACAGGGGCCAGAA GGACCTGGTGCCGACCACACCACACCACAGGGGCCAGAAGGACCTGGTGC CGACCACACCACACCACAGGGGCCAGAAGGACCTGGTGCCGACCACACCA CACCACAGGGGCCAGAAGGACCTGGTGCCGACCACACCACACCACAGGGG CT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18943.hp1 HG00597.hp1 NA18943.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0022 a0001c0002 a0002c0022	a0001c0002t0010 a0002c0022t0003 a0001c0002t0010 a0002c0022t0003	a0001c0002t0010g0126 a0002c0022t0003g0029 a0001c0002t0010g0126 a0002c0022t0003g0029	2	266	0.0075	-351	c.460 others(17): Show c.460-6272_460-5922del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
C19orf12_chr19_29693937_29720261	29719383	ATATAATT others(344): Show ATATAATTTATATATATATAAATATATATATAAATTATATATATATATAA TATATATATTTATATATATAATATACATATTTATATATATATTATATATA TTTATATATATATTATATTTATATATATTTATATATATTATATATATATT ATATATATAATATATAAATATATTTATATAATATAAATATATATATTTAT ATAATATAAATATATATATTTATATATATATAAAATATATATAATATATA AGTTTGGACAAAGATATAGAATTATATAATATATAAGTTTGGACAAAGAT ATAGAATTATATAATATATAATATAATATATCAGTATATATAATTGTACT AT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG03516.hp1 HG03540.hp1 HG02258.hp2 HG03516.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0030 a0001c0002t0001g0077 a0001c0002t0001g0030 a0001c0002t0001g0077	3	418	0.0072	-351	c.-46 others(11): Show c.-4620_-4270del	C19orf12	ENSG00000131943.20	transcript	ENST00000323670.14	protein_coding		4123		chr19	TogoVar
CACNG7_chr19_53904278_53948950	53921768	TCCCAGGT others(344): Show TCCCAGGTCTGGTCATTGGTGGAGTTGTCCCCAGGTCTGGTCATTGGTGG AGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGTCCCAGGCTGGTCATTGG TGGAGTTGTCCCAGGCTGGTCATTGGTGGAGTTGTCCCCAGGTCTGGTAT TGGTGGAGTTGTCCCCAGGTCTGGTCATTGGTGGAGTTGCCCCAGGCCTG GTCATTGGTGGAGTTGCCCCAGGCCTGGTCATTGGTGGAGTTGTCCCCAG GTCTGGTCATTGGTGGAGTTGTCCCCAGGCCTGGTATTGGTGGAGTTGCC CCAGGTCTGGTATTGGTGGAGTTGTCCCCAGGCCTGGTCATTGGTGGAGT TG	T T	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0328 a0001c0001t0001g0328	1	364	0.0028	-351	c.424 others(17): Show c.424+6267_424+6617del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CCDC126_chr7_23592382_23649708	23637304	GGGGGGAT others(344): Show GGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCTTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCTCCTCTGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCC AGCCGCCCCTTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACT GGGAAGTGAGGAGCTCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GT	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	380	0.0026	-351	c.239 others(17): Show c.239-5621_239-5271del	CCDC126	ENSG00000169193.12	transcript	ENST00000307471.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC91_chr12_28185456_28555166	28471349	TTTTACAG others(344): Show TTTTACAGAGAAACTAGATATCGAAACTTTTACCTCTCATATGTTTTCAG GAATCTCCTGGAGGAGGTACTCTACCACAGCAAAGGGTAAACCAAGAAGA AATAATCCACTGGGATCTAGAAAGCTGGGAGATTCAATTCAAGGAATATA TAGGGAACCCTCAAGAATAGGACTGAGGGAGATCTCAGAATGGACATTTA TTTAACAGACCCAGAGAACAACCAGTCCAGTTTGGAGATAGGTCAAGGAA GTTGTATCTCCAAGAAGACAAACAGAATGTTTCATATCTTTAAGCATATT GAGAAGATATATACAACTAGGAGAGAATTTGGGCATTAACTCATAATAAT TA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0065 a0002c0002t0001g0065	1	242	0.0041	-351	c.110 others(21): Show c.1102-12697_1102-12347del	CCDC91	ENSG00000123106.11	transcript	ENST00000536442.6	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CEP72_chr5_607340_658553	629773	GCCCAGTC others(344): Show GCCCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTGGCCCAGTCCTG GTGGGGTTCTGTCCAGCGCCGGGATTTGGCCCAGTCCTGGTGGGGTTCTG TCCAGCGCCGGGATTTGGCCCAGTCCTGGTGGGGTTCTGTCCAGTGTCGG GATTTGACCCAGTCCTGGTGGGGTGCTGTCCAGTGCCGGGATTTAGACCA GTCCTGGTGGGGTTCTGTCCAGTGCTGGGATTTGACCCAGTCCTGGTGGG GTTCTGTCCAGTGTCGGGATTTGACCCAGTCCTGGTGGGGTGCTGTCCAG TGCCGGGATTTAGACCAGTCCTGGTGGGGTTCTGTCCAGTGCTGGGATTT GA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18948.hp2 NA19007.hp1 HG00673.hp2 NA18948.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0041	3	91	0.0330	-351	c.513 others(17): Show c.513-3852_513-3502del	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
DIRAS1_chr19_2709567_2726372	2713109	CCCTTCCT others(344): Show CCCTTCCTCCCATCCCTCACTTCCTCCACCCATCACCTCCTCCATCCTTC ATCCCATCCCTCACTTCCTACACCCATCGCCTCCTCCACCCTTCACCCCA TACCTCACTTCCTACACCCATCACCTCCTCCACCCTTCACCCCATACCTC ACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATTCCTCACTTCC TACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACC CATCACCTCCTCCACCCTTCATCCCATCCGTCACTGTCTACACCGATCAC CTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTCCTC CA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0035 a0001c0002t0035	a0001c0002t0035g0090 a0001c0002t0035g0090	1	412	0.0024	-351	c.37 others(11): Show c.3750_*4100del	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		1457		chr19	TogoVar
DPP6_chr7_154047398_154899285	154661193	CGCTAGTA others(344): Show CGCTAGTATTCATATAGTCATGGTGAATCACCATGGCGTATTGGCCGTAG TGTTCATATAGTCATGGTGAATCACCATGGCGTATTGGCGCTAGTATTCA TATAGTCATGGTGAATCACCATGGCGTATTGGCCGTAGTGTTCATATAGT CATGGTGAATCACCATGGCGTATTGGCGCTAGTATTCATATAGTCATGGT GAATCACCATGGCGTATTGGCCGTAGTGTTCATATAGTCATGGTGAATCA CCATGGCGTATTGGCGCTAGTATTCATATAGTCATGGTGAATCACCATGG CGTATTGGCCGTAGTGTTCATATAGTCATGGTGAATCACCATGGCGTATT GG	C C	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	38	0.0263	-351	c.681 others(17): Show c.681-8166_681-7816del	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	6/25			chr7	TogoVar
EXT1_chr8_117789490_118116826	117968518	TATTCTGC others(344): Show TATTCTGCCTTATTTATTTATTTATTTATTTATTTATTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCACCCAGGCT GGAGTGCAGTGGCTTGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGCC CACCACGACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCAGGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGC CA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(84): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00438.hp1 HG00609.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01261.hp1 HG01496.hp2 HG01884.hp1 HG01943.hp1 HG02015.hp2 HG02055.hp1 HG02129.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp2 HG04184.hp1 HG04199.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18948.hp1 NA18950.hp1 NA18952.hp1 NA18966.hp2 NA19000.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0010 a0001c0013 a0002c0009	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(57): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0027 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0039 a0001c0001t0040 a0001c0001t0043 a0001c0001t0050 a0001c0001t0055 a0001c0001t0063 a0001c0001t0064 a0001c0001t0068 a0001c0001t0069 a0001c0001t0071 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0002t0020 a0001c0002t0028 a0001c0002t0066 a0001c0003t0001 a0001c0003t0002 a0001c0003t0017 a0001c0003t0025 a0001c0003t0046 a0001c0003t0062 a0001c0003t0070 a0001c0004t0001 a0001c0004t0012 a0001c0004t0065 a0001c0005t0010 a0001c0005t0029 a0001c0005t0053 a0001c0005t0059 a0001c0006t0001 a0001c0006t0004 a0001c0007t0013 a0001c0007t0014 a0001c0007t0030 a0001c0008t0006 a0001c0008t0016 a0001c0010t0056 a0001c0013t0018 a0002c0009t0038	a0001c0001t0001g0019 a0001c0001t0001g0029 a0001c0001t0001g0030 others(84): Show a0001c0001t0001g0019 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0001g0123 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0004g0072 a0001c0001t0004g0128 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0005g0041 a0001c0001t0005g0050 a0001c0001t0006g0090 a0001c0001t0006g0093 a0001c0001t0006g0126 a0001c0001t0006g0131 a0001c0001t0006g0156 a0001c0001t0008g0102 a0001c0001t0009g0088 a0001c0001t0009g0159 a0001c0001t0012g0174 a0001c0001t0014g0007 a0001c0001t0014g0009 a0001c0001t0015g0089 a0001c0001t0015g0092 a0001c0001t0016g0035 a0001c0001t0016g0076 a0001c0001t0018g0078 a0001c0001t0019g0085 a0001c0001t0021g0025 a0001c0001t0023g0168 a0001c0001t0024g0176 a0001c0001t0024g0178 a0001c0001t0027g0003 a0001c0001t0031g0006 a0001c0001t0032g0011 a0001c0001t0033g0015 a0001c0001t0034g0016 a0001c0001t0039g0091 a0001c0001t0040g0077 a0001c0001t0043g0073 a0001c0001t0050g0151 a0001c0001t0055g0087 a0001c0001t0063g0170 a0001c0001t0064g0177 a0001c0001t0068g0189 a0001c0001t0069g0182 a0001c0001t0071g0181 a0001c0002t0002g0046 a0001c0002t0003g0064 a0001c0002t0003g0080 a0001c0002t0007g0121 a0001c0002t0020g0051 a0001c0002t0028g0010 a0001c0002t0066g0179 a0001c0003t0001g0047 a0001c0003t0002g0106 a0001c0003t0002g0130 a0001c0003t0002g0153 a0001c0003t0002g0154 a0001c0003t0017g0186 a0001c0003t0025g0183 a0001c0003t0025g0184 a0001c0003t0046g0094 a0001c0003t0062g0166 a0001c0003t0070g0185 a0001c0004t0001g0054 a0001c0004t0012g0171 a0001c0004t0065g0172 a0001c0005t0010g0148 a0001c0005t0029g0008 a0001c0005t0053g0068 a0001c0005t0059g0056 a0001c0006t0001g0135 a0001c0006t0004g0020 a0001c0007t0013g0014 a0001c0007t0014g0012 a0001c0007t0030g0013 a0001c0008t0006g0162 a0001c0008t0016g0163 a0001c0010t0056g0081 a0001c0013t0018g0164 a0002c0009t0038g0024	87	190	0.4579	-351	c.963 others(21): Show c.963-131668_963-131318del	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
FBLN7_chr2_112133385_112193218	112139238	TGTCCCTC others(344): Show TGTCCCTCCCGCCTCTCTCCAGGCCAGCGTCCCTCCCGCCTCTCTCCAGG TCAGCGTCCCTCCCGCCTCTCTCCAGGCCAGCGTCCCTCCCGCCTCTCTC CACGCCAGTGTCCCTCCCGCCTCTCTCCAGGTCAGTGTCCCTCCCGCCTC TCTCCAGGCCAGTGTCCCTCCCGCCTCTCTCCAGGCCAGTGTCCCTCACG CCTCTCTCCAGGTCAGTGTCCCTCCCGCCTCTCTCCAGGCTAGTGTCCCT CCCGCCTCTCTCCAGGCCAGCGTCCCTCCCGCCTCTCTCCAGGTCAGCGT CCCTCCCGCCTCTCTCCAGGCCAGCGTCCCTCCCGCCTCTCTCCACGCCA GT	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02486.hp2 HG03139.hp1 others(1): Show HG01243.hp2 HG02486.hp2 HG03139.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 others(1): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0046	4	346	0.0116	-351	c.75+ others(13): Show c.75+532_75+882del	FBLN7	ENSG00000144152.13	transcript	ENST00000331203.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
FBLN7_chr2_112133385_112193218	112139262	CAGCGTCC others(344): Show CAGCGTCCCTCCCGCCTCTCTCCAGGTCAGCGTCCCTCCCGCCTCTCTCC AGGCCAGCGTCCCTCCCGCCTCTCTCCACGCCAGTGTCCCTCCCGCCTCT CTCCAGGTCAGTGTCCCTCCCGCCTCTCTCCAGGCCAGTGTCCCTCCCGC CTCTCTCCAGGCCAGTGTCCCTCACGCCTCTCTCCAGGTCAGTGTCCCTC CCGCCTCTCTCCAGGCTAGTGTCCCTCCCGCCTCTCTCCAGGCCAGCGTC CCTCCCGCCTCTCTCCAGGTCAGCGTCCCTCCCGCCTCTCTCCAGGCCAG CGTCCCTCCCGCCTCTCTCCACGCCAGTGTCCCTCCCGCCTCTCTCCAGG CT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01884.hp2 HG02055.hp1 others(4): Show HG01070.hp2 HG01884.hp2 HG02055.hp1 HG02630.hp2 HG02897.hp1 HG03516.hp2 NA18906.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0003c0003t0001 a0001c0001t0001 a0001c0001t0002 a0003c0003t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0040 others(4): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0002g0050 a0003c0003t0001g0045	7	346	0.0202	-351	c.75+ others(13): Show c.75+535_75+885del	FBLN7	ENSG00000144152.13	transcript	ENST00000331203.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
FBLN7_chr2_112133385_112193218	112139265	CGTCCCTC others(344): Show CGTCCCTCCCGCCTCTCTCCAGGTCAGCGTCCCTCCCGCCTCTCTCCAGG CCAGCGTCCCTCCCGCCTCTCTCCACGCCAGTGTCCCTCCCGCCTCTCTC CAGGTCAGTGTCCCTCCCGCCTCTCTCCAGGCCAGTGTCCCTCCCGCCTC TCTCCAGGCCAGTGTCCCTCACGCCTCTCTCCAGGTCAGTGTCCCTCCCG CCTCTCTCCAGGCTAGTGTCCCTCCCGCCTCTCTCCAGGCCAGCGTCCCT CCCGCCTCTCTCCAGGTCAGCGTCCCTCCCGCCTCTCTCCAGGCCAGCGT CCCTCCCGCCTCTCTCCACGCCAGTGTCCCTCCCGCCTCTCTCCAGGCTA GT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02258.hp1 HG03041.hp1 others(6): Show HG01255.hp2 HG02258.hp1 HG03041.hp1 HG03130.hp2 HG03453.hp1 NA18939.hp1 NA18987.hp1 NA18990.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0036 a0001c0001t0001g0089 a0001c0001t0001g0096 others(6): Show a0001c0001t0001g0036 a0001c0001t0001g0089 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0178 a0001c0001t0001g0199 a0001c0001t0001g0246 a0001c0001t0002g0088 a0001c0001t0005g0191	9	346	0.0260	-351	c.75+ others(13): Show c.75+558_75+908del	FBLN7	ENSG00000144152.13	transcript	ENST00000331203.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
FBXL7_chr5_15495180_15944793	15942538	AACTTAAG others(344): Show AACTTAAGAGATGTCAGATACTGTTTTATCACTGGGAGTGCTGTCCTGAC AGAACTTACTAAAGAAATAATGTTCAGCACATTATTGGGAGAGAAGAACA AGGCTTAGGCTCATCTCTTAGAGAAGACCCTTGAGCTGGGTTTTATATAC TCAGACAAGGTGGACTTGGAGGAGTGATGCTCTTTAACATCCAAAACAGA GTACATGGAGCCCACTCAGGGAAAAAATATTTAATAAGGTTAGTGAAATA ATTTATCTCTACTCTTTAATATTATCAAAACATTAACTATATTAACTATA GGTTAACATGGTCATTGCTTTAGGTTGGTCATGTGAAAACATGGCAAGTT CT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00639.hp2 HG01099.hp2 others(11): Show HG00323.hp1 HG00639.hp2 HG01099.hp2 HG01346.hp1 HG02129.hp2 HG02155.hp2 HG02280.hp1 HG03540.hp2 HG04204.hp2 HG04228.hp1 NA18948.hp2 NA19000.hp1 NA20300.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0007t0002	a0001c0001t0001g0024 a0001c0001t0001g0089 a0001c0001t0001g0093 others(11): Show a0001c0001t0001g0024 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0002g0003 a0001c0001t0002g0016 a0001c0001t0002g0020 a0001c0001t0002g0072 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0087 a0001c0001t0005g0029 a0001c0001t0007g0054 a0001c0007t0002g0037	14	122	0.1148	-351	c.53 others(11): Show c.5353_*5703del	FBXL7	ENSG00000183580.10	transcript	ENST00000504595.2	protein_coding		2746		chr5	TogoVar
FOXN3_chr14_89151177_89422233	89361828	ACCTCCAC others(344): Show ACCTCCACCACTACCACCTCCAGCACTACCTCCACCACCACCACCTCCAG CACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACCACCACCT CCAGCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACCACC TCCACCACTACCACCTCCAGCACCACCTCCACCACCACCTCCACCACTAC CACCTCCAGCACCACCACCTCCACCACCACCTCCACCACTACCACCTCCA GCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACCACCTCC ACCACTACCACCTCCAGCACCACCTCCACCACCACCACCTCCAGCACCAC CT	A A	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0157 a0001c0001t0006g0157	1	230	0.0044	-351	c.544 others(19): Show c.544-11371_544-11021del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
GAL3ST2_chr2_241771822_241809287	241807061	CTCCCTCC others(344): Show CTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCC TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAG CCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCAC CT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0113 a0002c0002t0002g0113	1	314	0.0032	-351	c.28 others(11): Show c.2896_*3246del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2775		chr2	TogoVar
L3MBTL4_chr18_5949717_6419911	6272490	CGGCGCCT others(344): Show CGGCGCCTTCAGGAGCACGGGGAAAGGGGGAGTTGTGCAGATTCAACTAG GACTGAATATAAGGAACACAGAAGAGTTCTGACAGCCCCACTGCATTAAA CTGGTGGTTCTACAGAGCGGCGCCTTCAGGAGCACGGGGAAAGGGGGAGT TGTGCAAATTCAACTAGGACTGAATATAAGGAATACAGAACAGTTCTGAC AGCCCCACTGCATTAAACTGGTGGTTCTACAGAGCGGTGCCTTCAGGAGC ACGGGGAAAGGGAGAGTTGTGCAAATTCAACTAGGACTGAATATAAGGAA TACAGAACAGTTCTGACAGCCCCACTGCATTAAACTGGTGGTTCTACAGA GT	C C	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG03209.hp2 HG02080.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0027 a0001c0001t0007g0043 a0001c0001t0002g0027 a0001c0001t0007g0043	2	94	0.0213	-351	c.128 others(17): Show c.128-8803_128-8453del	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	4/18			chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	6272635	GGAGTTGT others(344): Show GGAGTTGTGCAAATTCAACTAGGACTGAATATAAGGAATACAGAACAGTT CTGACAGCCCCACTGCATTAAACTGGTGGTTCTACAGAGCGGTGCCTTCA GGAGCACGGGGAAAGGGAGAGTTGTGCAAATTCAACTAGGACTGAATATA AGGAATACAGAACAGTTCTGACAGCCCCACTGCATTAAACTGGTGGTTCT ACAGAGTGGTGCCTTCAGGAGCATGGGGAAAGGGGGAGTTGTGCAGATTC AACTAGGACTGAATATAAGGAATACAGAAGAGTTCTGACAGCCCCACTGC ATTAAACTGGTGGTTCTACAGAGCGGTGCCTTCAGGAGCACGGGGAAAGG GA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0078 a0002c0002t0001g0078	1	94	0.0106	-351	c.128 others(17): Show c.128-8948_128-8598del	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	4/18			chr18	TogoVar
LGR5_chr12_71434798_71591310	71563936	ACACCGTG others(344): Show ACACCGTGTATATATGCATATATACGTATCTGTACACACGCACTGTGTAT ATATGCATATATACGTATCTGTACACACGCACCGTGTATATATGCATATA TACGTATCTGTATACACGCACCGTGTATATATGCATATATACGTATCTGT ACACACGCACCGTGTATATATGCATATATACGTATCTGTACACACGCACC GTGTATATATGCATATATACGTATCTGTACACACGCACCGTGTATATATG CATATATACGTATCTGTACACACGCACCGTGTATATATGCATATATACGT ATCTGTACACACGCACCGTGTATATATGCATATATACGTATCTGTACACA CG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0004 a0006c0013t0004	a0006c0013t0004g0157 a0006c0013t0004g0157	1	200	0.0050	-351	c.857 others(17): Show c.857+2127_858-2075del	LGR5	ENSG00000139292.13	transcript	ENST00000266674.10	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
MCF2L_chr13_112964214_113104742	113025558	AGTCTCTG others(344): Show AGTCTCTGGGAGGTTTCATCATGGTGGGGTCCCCGTGACTGTGGGTCGGG GCAGAGTCCCTGTGAGGTTTCCCCATTGTGGGGTCCCTGCAACTATGGGA TGAGGCAGAGTCCCTGTGAGATTTCCCTGTCATGGGGTCCCCGTGACTGT GGGTCGGGGCAGAGTCCCTGTGAGATTTCACCAGGGTGGGGTCCCTGCAA CTATGGGATGAGGCAGAGTCCCTGTGAGATTTCCCTGTCATGGGGTCCCC GTGACTGTGGGTCGGGGCAGAGTCTCTGTGAGGTTTCATCATGGTGGGGT CCCCGTGACTGTGGGTCGGGGCAGAGTCCCTGTGAGGTTTCCCCATTGTG GG	A A	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0092 a0001c0003t0001g0092	1	116	0.0086	-351	c.278 others(16): Show c.278+804_278+1154del	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MTA3_chr2_42563632_42761946	42605258	GGGGGGCT others(344): Show GGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCCTCACCTCCCGGACGGGGCGGCTGGC GGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCG GGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGACTGGCCGG GC	G G	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	312	0.0032	-351	c.191 others(17): Show c.191-4194_191-3844del	MTA3	ENSG00000057935.14	transcript	ENST00000405094.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar

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