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
RASA3_chr13_113972783_114137623	114007926	CCCTGACT others(170): Show CCCTGACTGTGGGGAGGAGCAGAGCCCTGGGGCCTGGAGGTTGCCCCCAC GCACCGCGTTCCTGACTGTGGGGAGGAGCAGAGCCCTGGGGCCTGGATAT TCCCCCCACGCACCGCGTTCCTGACTGTGGGGAGGAGCAGAGCCCTGGGG CCTGGAGGTTGCCCCCACGCACCGCGTT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00639.hp2 HG00733.hp2 others(27): Show HG00621.hp2 HG00639.hp2 HG00733.hp2 HG01167.hp2 HG01175.hp2 HG01361.hp1 HG01433.hp1 HG01943.hp1 HG01943.hp2 HG01981.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02559.hp1 HG02723.hp1 HG02738.hp2 HG03130.hp2 HG03225.hp1 HG03471.hp1 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18945.hp2 NA18954.hp1 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA19079.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0002t0001 a0001c0009t0008 a0001c0011t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(27): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0002g0032 a0001c0001t0005g0018 a0001c0001t0005g0023 a0001c0001t0007g0034 a0001c0002t0001g0058 a0001c0009t0008g0048 a0001c0011t0001g0042	30	67	0.4478	-177	c.166 others(17): Show c.1669-497_1669-321del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	17/23			chr13	TogoVar
RBM19_chr12_113817057_113971325	113836821	TACATACA others(170): Show TACATACACACACACACACACACGTGTCCCAAGCAATGCTTATGTGTCAG GCATACCTGTCCTCCTACTTACTACATACACACCCCCCCCCCCCCCACAT ACACACACACACACACACACGTGTCCCAAGCAATGCTTATGTGTCAGGCA TACCTGTCCTCCTACTTACTACATACAC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03471.hp2 HG02976.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0220 a0001c0001t0001g0222	2	356	0.0056	-177	c.278 others(19): Show c.2785+7670_2785+7846del	RBM19	ENSG00000122965.11	transcript	ENST00000261741.10	protein_coding	23/23			chr12	TogoVar
RBM19_chr12_113817057_113971325	113872700	GGGGGGTC others(170): Show GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02976.hp1 HG03471.hp2 others(1): Show HG02257.hp2 HG02976.hp1 HG03471.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 others(1): Show a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0254	4	356	0.0112	-177	c.255 others(21): Show c.2559-13981_2559-13805del	RBM19	ENSG00000122965.11	transcript	ENST00000261741.10	protein_coding	21/23			chr12	TogoVar
RBM20_chr10_110639336_110844468	110767167	CCCCCCCC others(170): Show CCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGTGCCCCTCACCTCCCGGA CGGGGCGGCTAGCCGGGTGGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03209.hp1 HG03130.hp1 HG03209.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0231 a0002c0002t0001g0200 a0001c0001t0001g0231 a0002c0002t0001g0200	2	268	0.0075	-177	c.192 others(19): Show c.192-13615_192-13439del	RBM20	ENSG00000203867.8	transcript	ENST00000369519.4	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
REEP6_chr19_1486181_1502927	1499219	CGGGGCGG others(170): Show CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGTCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCAACCTCCCTCCCGGACG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02145.hp2 HG02451.hp2 others(11): Show HG01891.hp2 HG02145.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02630.hp2 HG02895.hp1 HG02976.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03579.hp2 NA19043.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0001t0002 a0001c0003t0002	a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0035 others(6): Show a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0054 a0001c0001t0002g0059 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0003t0002g0048	14	318	0.0440	-177	c.20 others(11): Show c.2009_*2185del	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		1293		chr19	TogoVar
RNASE10_chr14_20500537_20518884	20506351	GGGAGGTG others(170): Show GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGTCCCGTCCGGGAGGGGGGAGGGGGGGTCAG CCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCTATCCA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03098.hp2 HG03471.hp1 HG02055.hp2 HG03098.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093	a0001c0001t0091g0182 a0001c0001t0092g0111 a0001c0001t0093g0110 a0001c0001t0091g0182 a0001c0001t0092g0111 a0001c0001t0093g0110	3	396	0.0076	-177	c.-6+ others(13): Show c.-6+402_-6+578del	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
RNASE10_chr14_20500537_20518884	20506846	CGTCCGGG others(170): Show CGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCGGGAGGGGGGAGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGTGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02486.hp2 HG02622.hp1 others(4): Show HG01081.hp2 HG02486.hp2 HG02622.hp1 HG02622.hp2 HG02976.hp2 NA19043.hp1 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0082 a0001c0001t0088 a0002c0002t0080 others(4): Show a0001c0001t0082 a0001c0001t0088 a0002c0002t0080 a0002c0002t0083 a0002c0002t0084 a0003c0003t0081 a0003c0003t0109	a0001c0001t0082g0183 a0001c0001t0088g0184 a0002c0002t0080g0145 others(4): Show a0001c0001t0082g0183 a0001c0001t0088g0184 a0002c0002t0080g0145 a0002c0002t0083g0051 a0002c0002t0084g0051 a0003c0003t0081g0143 a0003c0003t0109g0144	7	396	0.0177	-177	c.-6+ others(14): Show c.-6+892_-6+1068del	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
RNF212_chr4_1066478_1118564	1096154	GCACACCC others(170): Show GCACACCCCCCACAGCTCCACGGTCTCGGGATAGCGCACCTGGCTCATCA CGGAACCAAGCACACCCCCCACAGCTCCACGGTCTCGGGATAGCGCACCT GGCTCATCACGGAACCAAGCACACCCCCCACAGCTCCACGGTCTCGGGAT AGCGCACCTGGCTCATCACGGAACCAAC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02486.hp2 HG02572.hp1 others(9): Show HG01884.hp2 HG02486.hp2 HG02572.hp1 HG02647.hp2 HG02895.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03209.hp2 HG03225.hp2 HG03516.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0001c0002t0006 a0002c0003t0001 a0001c0002t0001 a0001c0002t0006 a0002c0003t0001	a0001c0002t0001g0034 a0001c0002t0001g0037 a0001c0002t0001g0041 others(7): Show a0001c0002t0001g0034 a0001c0002t0001g0037 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0209 a0001c0002t0001g0303 a0001c0002t0006g0360 a0002c0003t0001g0006 a0002c0003t0001g0332 a0002c0003t0001g0333	12	406	0.0296	-177	c.246 others(15): Show c.246+434_246+610del	RNF212	ENSG00000178222.14	transcript	ENST00000433731.7	protein_coding	3/9			chr4	TogoVar
RNF213_chr17_80255852_80403794	80314350	AGGTACTG others(170): Show AGGTACTGGAGGTGATGGCGGTCGTGGAGGTGATGGTGGAGGTAATGGAG GTGGTGGTGGTGGTGGTGGTGGAGGTACTGGAGGTGATGGTGGAGGTAAT GGAGGTGATGGTGGTGATGGTGATGGTGGAGGTACTGGAGGTGATGGTGG TGGTGGTGGAGGTAATGGAGGTGATGGT	A A	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18970.hp2 NA18967.hp2 NA18970.hp2	a0001 a0019 a0001 a0019	a0001c0001 a0019c0142 a0001c0001 a0019c0142	a0001c0001t0029 a0019c0142t0030 a0001c0001t0029 a0019c0142t0030	a0001c0001t0029g0079 a0019c0142t0030g0178 a0001c0001t0029g0079 a0019c0142t0030g0178	2	292	0.0069	-177	c.281 others(19): Show c.2811+1187_2811+1363del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314608	TGGTGGTG others(170): Show TGGTGGTGGTGGTGGTGGAGGTACTGGAGGTGATGGCGGTCGTGGAGGTG ATGGTGGAGGTAATGGAGGTGGTGGTGGTGGTGGTGGTGGAGGTACTGGA GGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGATGGTGATGGTGGAGG TACTGGAGGTGATGGTGGTGGTGGTGGA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0025 a0025	a0025c0038 a0025c0038	a0025c0038t0006 a0025c0038t0006	a0025c0038t0006g0007 a0025c0038t0006g0007	1	292	0.0034	-177	c.281 others(19): Show c.2811+1445_2811+1621del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314820	GTGGAGGT others(170): Show GTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGGTGGTGGTGGAGGTAAT GGAGGTGATGGTGGTGGTGGAGGTGATGGTGGAGGTACTGGAGGTGATGG TGGTGGTGAAGGTGTTGGTGGAGGTACTGGAGGTGATGGTGGTCGTGTAG GTGATGGTGGAGGTGATGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0007 a0003c0005t0007	a0003c0005t0007g0058 a0003c0005t0007g0058	1	292	0.0034	-177	c.281 others(19): Show c.2811+1654_2811+1830del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67			chr17	TogoVar
SH3D19_chr4_151115281_151330605	151214618	GCTGGCCG others(170): Show GCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGAAGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGATGGGGAGGCTGGCCGGGCAGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGAGCGC	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0013 a0013	a0013c0023 a0013c0023	a0013c0023t0002 a0013c0023t0002	a0013c0023t0002g0119 a0013c0023t0002g0119	1	282	0.0036	-177	c.152 others(19): Show c.152+11252_152+11428del	SH3D19	ENSG00000109686.20	transcript	ENST00000604030.7	protein_coding	2/19			chr4	TogoVar
SIGIRR_chr11_400716_419999	402036	CCCCCGAC others(170): Show CCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCG CTCACCCCGGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGG CTCCACTGACCCCGGCCCCGCTCACCCCGACCCCGCTCACCCCAGACCCC CGGCCCCGCTCACCCCCGGCTCCACTGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	242	0.0041	-177	c.36 others(11): Show c.3683_*3859del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3679		chr11	TogoVar
SIGIRR_chr11_400716_419999	402106	CCCCCGAC others(170): Show CCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCG CTCACCCCGACCCCGCTCACCCCAGACCCCCGGCCCCGCTCACCCCCGGC TCCACTGACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCC CGGCCCCGCTCACCCCCGGCTCCACTGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0230 a0001c0004t0001g0230	1	242	0.0041	-177	c.36 others(11): Show c.3613_*3789del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3609		chr11	TogoVar
SLC12A7_chr5_1045384_1117063	1072711	GAGCCCCC others(170): Show GAGCCCCCAGCACACGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCA GTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCC CCAGCACACGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGC CCCCAGCACACGGGCATCACACTTATGC	G G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0048 a0001c0006t0001g0048	1	118	0.0085	-177	c.224 others(17): Show c.2241+745_2241+921del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC17A5_chr6_73588379_73658992	73601515	GGTCAGCC others(170): Show GGTCAGCCCCCCGCCCGGCCAGCCAACCCGTCCGGGAGGTGAGGGGAGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCTGCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCGCCCAGCCA GATGCCCCGTCCAGGAGGGAGGTGGGGT	G G	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0284 a0001c0001t0004g0284	1	324	0.0031	-177	c.126 others(19): Show c.1260-1251_1260-1075del	SLC17A5	ENSG00000119899.13	transcript	ENST00000355773.6	protein_coding	9/10			chr6	TogoVar
SLC9A3_chr5_465456_529449	484088	ACCCCGCC others(170): Show ACCCCGCCGGACCCAGGAGGGTGTGGAGAAGCTCGGGTTGGGGTCCCCCT GGCTGGCTCGCCCCGCCGGACCCAGGAGGGTGTGGAGAAGCTCGGGTTGG GGTCCCCCTGGCTGGCTCGCCCCGCCGGACCCAGGAGGGTGTGGAGAAGC TCGGGTTGGGGTCCCCCTGGCTGGCTCG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01261.hp1 HG01496.hp2 others(16): Show HG00642.hp2 HG01261.hp1 HG01496.hp2 HG02004.hp2 HG02074.hp1 HG02148.hp1 HG02257.hp1 HG02559.hp1 HG02809.hp1 HG02896.hp2 HG02897.hp1 HG03486.hp2 HG03540.hp2 NA18957.hp1 NA18971.hp2 NA19081.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0008	a0001c0001 a0001c0026 a0001c0027 others(3): Show a0001c0001 a0001c0026 a0001c0027 a0002c0002 a0006c0015 a0008c0023	a0001c0001t0001 a0001c0001t0007 a0001c0001t0012 others(6): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0012 a0001c0001t0014 a0001c0026t0012 a0001c0027t0007 a0002c0002t0019 a0006c0015t0007 a0008c0023t0007	a0001c0001t0001g0022 a0001c0001t0001g0040 a0001c0001t0001g0071 others(16): Show a0001c0001t0001g0022 a0001c0001t0001g0040 a0001c0001t0001g0071 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0007g0032 a0001c0001t0007g0033 a0001c0001t0007g0035 a0001c0001t0012g0182 a0001c0001t0014g0060 a0001c0001t0014g0061 a0001c0026t0012g0212 a0001c0027t0007g0136 a0002c0002t0019g0018 a0006c0015t0007g0004 a0008c0023t0007g0147	19	218	0.0872	-177	c.932 others(15): Show c.932+255_932+431del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	5/16			chr5	TogoVar
SLC9A3_chr5_465456_529449	495379	TCCCCGCG others(170): Show TCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCCATCGC CGACCCTCCCCACGCTCCACTCCCCGCGCCATCGCCGACCCTCCCCACGC TCCACTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCC ATCGCCGACCCTCCCCACGCTCCACTCC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	218	0.0046	-177	c.212 others(17): Show c.212-3485_212-3309del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SMOC2_chr6_168436184_168672992	168596006	CTTCCTGG others(170): Show CTTCCTGGGTGCTGCTGGAGAGGCATGAACAAGCGCCACGTGAACACGGC AGTGATGAGTTTCCTGGGTGCTGCTGGAGAGGCATGAACAAGCGCCACGT GAACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAGAGGAATGAACAG GTGCCATGTGAACACGGCAGTGATGAGT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA19030.hp2 HG03225.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0006 a0001c0007t0005 a0001c0001t0006 a0001c0007t0005	a0001c0001t0006g0160 a0001c0007t0005g0050 a0001c0001t0006g0160 a0001c0007t0005g0050	2	180	0.0111	-177	c.638 others(17): Show c.638-2730_638-2554del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNTG2_chr2_945849_1372613	1221580	GTCTGTCG others(170): Show GTCTGTCGCTGTCGCTCTGTGTATCTCTGTCTCTGTCTGTGTCTCGTGTC GGTGCTCCGGTTCCCCCCAACCTCTGTCTCGGTCCCCCCCGGTCTCGGTC TCTCTCTCTCTCGGTTCTTCTCGGTCTCTGTCTCTGTCTCTATCTCTGTC TCTGTCTCTCTCTGTCTCTGTCTGTGTC	G G	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0012 a0006c0010t0001g0012	1	190	0.0053	-177	c.719 others(19): Show c.719+12354_719+12530del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SOX11_chr2_5687384_5706385	5706155	AGAGGAGC others(170): Show AGAGGAGCAGGGAGACTGGGGTAGAGGAACAGGTAGGCTGGGGTGGAGGA GCTGGGAGGCCAGGGTGGAGGAGTTGAGGAGGCTGGGGTAGAGGAGCAGG GAGGCTGGGGTAGAGGAGCAGGGAGGCTGGGGTAGAGGAGCAGGGAGGCT GGGGTAGAGGAGCAGGGAGGCTGGGGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG02040.hp2 NA18978.hp2 others(2): Show HG00639.hp2 HG02040.hp2 NA18978.hp2 NA19080.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0029 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0029 a0001c0001t0112	a0001c0001t0002g0000 a0001c0001t0006g0000 a0001c0001t0029g0000 others(1): Show a0001c0001t0002g0000 a0001c0001t0006g0000 a0001c0001t0029g0000 a0001c0001t0112g0000	5	434	0.0115	-177	c.12 others(13): Show c.12109_*12285del	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4771		chr2	TogoVar
STK32B_chr4_5046480_5505989	5317284	AACATATA others(170): Show AACATATATATAATATATAATATATAACATATGTATAATATATATTACAT ATATAATACATATATATAATATATATAATGTATATGTATTATATATATTA CATATATATAATATATATAATGTATATGTATTATATATAATACATATATA TTACATATATACATAATATATATAATAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02572.hp2 HG02717.hp1 others(2): Show HG02280.hp1 HG02572.hp2 HG02717.hp1 HG03130.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0002c0002t0001	a0001c0001t0001g0032 a0001c0001t0002g0106 a0001c0001t0005g0133 others(2): Show a0001c0001t0001g0032 a0001c0001t0002g0106 a0001c0001t0005g0133 a0001c0001t0005g0168 a0002c0002t0001g0160	5	170	0.0294	-177	c.261 others(19): Show c.261-13934_261-13758del	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
SYNC_chr1_32674906_32707770	32691160	GTGAGCCC others(170): Show GTGAGCCCAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGAC TCCTTCTCAAAAAACAAAAAAAAACAACAAAAAAAATTTGCCAGGCGTGG CACTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACT GCTTGAACCCGGGAGGTAGAGGTTGCAA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00621.hp2 others(36): Show HG00423.hp2 HG00544.hp1 HG00621.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG01123.hp2 HG01168.hp1 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01496.hp2 HG01928.hp2 HG01943.hp2 HG01975.hp1 HG01981.hp2 HG02015.hp2 HG02132.hp2 HG02293.hp2 HG03669.hp2 HG04115.hp1 NA18946.hp1 NA18950.hp1 NA18964.hp2 NA18969.hp2 NA18973.hp2 NA18977.hp2 NA18979.hp2 NA18982.hp2 NA18987.hp2 NA18989.hp2 NA18993.hp2 NA18994.hp1 NA19065.hp1 NA19074.hp1 NA19079.hp2 NA19082.hp1 NA19084.hp2 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0010 a0002c0002t0003 a0002c0002t0010	a0002c0002t0003g0001 a0002c0002t0003g0012 a0002c0002t0003g0014 others(26): Show a0002c0002t0003g0001 a0002c0002t0003g0012 a0002c0002t0003g0014 a0002c0002t0003g0033 a0002c0002t0003g0207 a0002c0002t0003g0208 a0002c0002t0003g0209 a0002c0002t0003g0210 a0002c0002t0003g0211 a0002c0002t0003g0212 a0002c0002t0003g0214 a0002c0002t0003g0215 a0002c0002t0003g0216 a0002c0002t0003g0217 a0002c0002t0003g0218 a0002c0002t0003g0219 a0002c0002t0003g0221 a0002c0002t0003g0222 a0002c0002t0003g0223 a0002c0002t0003g0224 a0002c0002t0003g0225 a0002c0002t0003g0226 a0002c0002t0003g0227 a0002c0002t0003g0228 a0002c0002t0003g0229 a0002c0002t0003g0230 a0002c0002t0003g0231 a0002c0002t0010g0213 a0002c0002t0010g0220	39	318	0.1226	-177	c.123 others(19): Show c.1233+3528_1233+3704del	SYNC	ENSG00000162520.15	transcript	ENST00000409190.8	protein_coding	2/4			chr1	TogoVar
TAP2_chr6_32820415_32843739	32827726	TGGAACAG others(170): Show TGGAACAGTGTGTGCTCTGAAAAGGATCTCTGCAGCAGGGCTTGAGAGCA CCTGAAGGAATTTCCAGAAATGCCATCATCGTATGTGACACAGAATTTAG AAAAATGACTTTGTGAAGAATGGCCGGAAGAGGGAAGCTAATGGTAGAGA AACCTCTCTGGTGATGGGATCATCTTAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00438.hp1 others(147): Show HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG01081.hp2 HG01106.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01943.hp2 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02523.hp2 HG02572.hp2 HG02602.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG03139.hp2 HG03239.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18955.hp2 NA18961.hp1 NA18962.hp2 NA18967.hp2 NA18968.hp2 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18989.hp1 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19006.hp1 NA19007.hp1 NA19011.hp1 NA19011.hp2 NA19054.hp1 NA19055.hp2 NA19056.hp1 NA19058.hp2 NA19060.hp2 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19072.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp2 NA19083.hp1 NA19084.hp1 NA19088.hp1 NA20129.hp1 NA20300.hp1 NA20805.hp2 NA20905.hp2	a0000 a0000	a0000c0002 a0000c0006 a0000c0008 others(15): Show a0000c0002 a0000c0006 a0000c0008 a0000c0011 a0000c0014 a0000c0016 a0000c0019 a0000c0021 a0000c0024 a0000c0026 a0000c0029 a0000c0030 a0000c0031 a0000c0033 a0000c0034 a0000c0036 a0000c0037 a0000c0045	a0000c0002t0001 a0000c0002t0003 a0000c0002t0025 others(23): Show a0000c0002t0001 a0000c0002t0003 a0000c0002t0025 a0000c0002t0041 a0000c0006t0001 a0000c0006t0003 a0000c0006t0024 a0000c0006t0033 a0000c0006t0044 a0000c0008t0001 a0000c0008t0003 a0000c0011t0001 a0000c0014t0003 a0000c0016t0001 a0000c0019t0003 a0000c0021t0001 a0000c0024t0001 a0000c0026t0003 a0000c0029t0001 a0000c0030t0003 a0000c0031t0003 a0000c0033t0001 a0000c0034t0001 a0000c0036t0001 a0000c0037t0003 a0000c0045t0025	a0000c0002t0001g0001 a0000c0002t0001g0037 a0000c0002t0001g0040 others(65): Show a0000c0002t0001g0001 a0000c0002t0001g0037 a0000c0002t0001g0040 a0000c0002t0001g0042 a0000c0002t0001g0060 a0000c0002t0001g0152 a0000c0002t0001g0154 a0000c0002t0001g0160 a0000c0002t0001g0161 a0000c0002t0001g0163 a0000c0002t0001g0164 a0000c0002t0001g0196 a0000c0002t0001g0202 a0000c0002t0001g0204 a0000c0002t0001g0221 a0000c0002t0003g0016 a0000c0002t0003g0052 a0000c0002t0003g0084 a0000c0002t0003g0085 a0000c0002t0003g0113 a0000c0002t0003g0114 a0000c0002t0003g0126 a0000c0002t0003g0136 a0000c0002t0003g0140 a0000c0002t0025g0194 a0000c0002t0041g0165 a0000c0006t0001g0063 a0000c0006t0001g0150 a0000c0006t0001g0162 a0000c0006t0001g0172 a0000c0006t0003g0008 a0000c0006t0003g0011 a0000c0006t0003g0074 a0000c0006t0003g0077 a0000c0006t0003g0079 a0000c0006t0003g0080 a0000c0006t0003g0093 a0000c0006t0003g0108 a0000c0006t0003g0118 a0000c0006t0003g0128 a0000c0006t0003g0130 a0000c0006t0003g0131 a0000c0006t0003g0142 a0000c0006t0024g0051 a0000c0006t0033g0141 a0000c0006t0044g0157 a0000c0008t0001g0004 a0000c0008t0003g0034 a0000c0011t0001g0009 a0000c0011t0001g0200 a0000c0014t0003g0056 a0000c0014t0003g0086 a0000c0014t0003g0111 a0000c0016t0001g0028 a0000c0019t0003g0087 a0000c0019t0003g0088 a0000c0019t0003g0109 a0000c0021t0001g0038 a0000c0024t0001g0067 a0000c0026t0003g0071 a0000c0029t0001g0159 a0000c0030t0003g0143 a0000c0031t0003g0123 a0000c0033t0001g0207 a0000c0034t0001g0197 a0000c0036t0001g0193 a0000c0037t0003g0106 a0000c0045t0025g0219	150	485	0.3093	-177	c.10 others(11): Show c.1003_*1179del	TAP2	ENSG00000204267.19	transcript	ENST00000374897.4	protein_coding	12/12	1003		chr6	TogoVar
TM9SF4_chr20_32104714_32172256	32122010	TGGCTGGC others(170): Show TGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCGGGACGGGGC AGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCAGACGGGGCAGCTGGCCGGGCGGGGGGGGTG ACCCCCCCACCTCCCTCCCGGACGGGGC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02965.hp1 HG03041.hp2 others(3): Show HG01261.hp2 HG02965.hp1 HG03041.hp2 HG03130.hp2 HG03486.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 others(3): Show a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032	6	298	0.0201	-177	c.16- others(17): Show c.16-10990_16-10814del	TM9SF4	ENSG00000101337.16	transcript	ENST00000398022.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
TNK2_chr3_195858364_195913551	195874580	CCCCCTCG others(170): Show CCCCCTCGGGATGGCGCCCACGCACACTCCGAGGCACAAGAAGCTCCCCT CGGGATGGCGCCCACGCACACTCCGAGGCACAAGAAGCTCCCCTCGGGAT GGCGCCCACGCACGCTCCGAGGCACAAGAAACTCTCCCTCGGGATGGCGC CCACGCACGCTCCGAGGCACAGGAAGCT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03225.hp2 NA20300.hp2 HG02559.hp1 HG03225.hp2 NA20300.hp2	a0001 a0001	a0001c0011 a0001c0014 a0001c0037 a0001c0011 a0001c0014 a0001c0037	a0001c0011t0001 a0001c0014t0004 a0001c0037t0004 a0001c0011t0001 a0001c0014t0004 a0001c0037t0004	a0001c0011t0001g0230 a0001c0014t0004g0109 a0001c0037t0004g0110 a0001c0011t0001g0230 a0001c0014t0004g0109 a0001c0037t0004g0110	3	372	0.0081	-177	c.125 others(19): Show c.1257-2287_1257-2111del	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	9/15			chr3	TogoVar
TTC7B_chr14_90519564_90821430	90573402	GCCCTCTC others(170): Show GCCCTCTCCGGCTCACGGTCCCTCTCCGGCTCACGGTCCCTCTCAGCTCA CGGTCCCTCTCCGGCTCACAGGCCCTCTCCGCCTCACGGTCCCTCTCAGC TCACGGTCCCTCTCCGGCTCACGGTCTCTCTCAGCTCACGGTCCCTCTCC GGCTCACGGTCCCTCTCCGGCTCACGGT	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp1 HG01167.hp2 others(26): Show HG00642.hp1 HG00733.hp1 HG01167.hp2 HG01257.hp1 HG01981.hp2 HG02258.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02895.hp1 HG02897.hp1 HG02976.hp1 HG02976.hp2 HG03139.hp2 HG03195.hp1 HG03471.hp1 HG03540.hp2 HG03579.hp2 HG03834.hp2 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA19043.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0012 a0001c0018	a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 others(24): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 a0001c0001t0018 a0001c0001t0031 a0001c0002t0007 a0001c0002t0035 a0001c0002t0037 a0001c0002t0038 a0001c0002t0054 a0001c0002t0072 a0001c0002t0116 a0001c0003t0001 a0001c0003t0007 a0001c0003t0047 a0001c0003t0052 a0001c0004t0007 a0001c0004t0010 a0001c0004t0113 a0001c0004t0114 a0001c0004t0115 a0001c0004t0117 a0001c0006t0015 a0001c0007t0001 a0001c0012t0015 a0001c0012t0036 a0001c0018t0081	a0001c0001t0001g0182 a0001c0001t0008g0077 a0001c0001t0010g0097 others(26): Show a0001c0001t0001g0182 a0001c0001t0008g0077 a0001c0001t0010g0097 a0001c0001t0018g0176 a0001c0001t0031g0094 a0001c0002t0007g0035 a0001c0002t0007g0143 a0001c0002t0035g0156 a0001c0002t0037g0142 a0001c0002t0038g0010 a0001c0002t0054g0137 a0001c0002t0072g0081 a0001c0002t0116g0056 a0001c0003t0001g0118 a0001c0003t0007g0038 a0001c0003t0047g0114 a0001c0003t0052g0148 a0001c0004t0007g0152 a0001c0004t0010g0112 a0001c0004t0010g0157 a0001c0004t0113g0154 a0001c0004t0114g0004 a0001c0004t0115g0119 a0001c0004t0117g0005 a0001c0006t0015g0155 a0001c0007t0001g0078 a0001c0012t0015g0164 a0001c0012t0036g0165 a0001c0018t0081g0149	29	200	0.1450	-177	c.231 others(19): Show c.2310+4527_2310+4703del	TTC7B	ENSG00000165914.15	transcript	ENST00000328459.11	protein_coding	19/19			chr14	TogoVar
UMODL1_chr21_42066317_42147996	42131474	GAGGAGGG others(170): Show GAGGAGGGAGGTCTCAGCCATGAAGCTGGGGAACAGGAGGAGGGAGGTCT CGGCCATGAAGCTGGGGAACAGGAGGAGGGAGGTCTCGGCCATGAAGCTG GGGAGCAGGAGGAGGGAGGTCTCGGCCATGAAGCTGGGGAACAGGAGGAG GGAGGTCTTGGCCATGAAGCTGGGGAAC	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG00609.hp1 others(37): Show HG00597.hp1 HG00597.hp2 HG00609.hp1 HG01257.hp1 HG01358.hp2 HG01891.hp2 HG01975.hp1 HG02074.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02300.hp2 HG03540.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18949.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18962.hp1 NA18966.hp2 NA18967.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18989.hp2 NA18994.hp2 NA18998.hp2 NA19000.hp1 NA19060.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19079.hp2 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19090.hp2 NA19091.hp2	a0002 a0006 a0009 others(14): Show a0002 a0006 a0009 a0012 a0015 a0019 a0020 a0022 a0033 a0066 a0067 a0069 a0085 a0089 a0095 a0098 a0113	a0002c0202 a0006c0007 a0006c0078 others(20): Show a0002c0202 a0006c0007 a0006c0078 a0009c0018 a0009c0027 a0009c0110 a0012c0054 a0015c0010 a0019c0016 a0020c0021 a0020c0195 a0022c0081 a0033c0088 a0033c0103 a0033c0105 a0066c0084 a0067c0085 a0069c0082 a0085c0113 a0089c0175 a0095c0090 a0098c0104 a0113c0197	a0002c0202t0004 a0006c0007t0004 a0006c0007t0018 others(25): Show a0002c0202t0004 a0006c0007t0004 a0006c0007t0018 a0006c0078t0004 a0009c0018t0004 a0009c0018t0018 a0009c0018t0019 a0009c0027t0001 a0009c0027t0003 a0009c0110t0004 a0012c0054t0022 a0015c0010t0002 a0019c0016t0004 a0019c0016t0014 a0020c0021t0004 a0020c0195t0004 a0022c0081t0004 a0033c0088t0004 a0033c0103t0004 a0033c0105t0001 a0066c0084t0002 a0067c0085t0004 a0069c0082t0019 a0085c0113t0022 a0089c0175t0002 a0095c0090t0016 a0098c0104t0002 a0113c0197t0004	a0002c0202t0004g0055 a0006c0007t0004g0172 a0006c0007t0004g0203 others(37): Show a0002c0202t0004g0055 a0006c0007t0004g0172 a0006c0007t0004g0203 a0006c0007t0004g0250 a0006c0007t0004g0251 a0006c0007t0004g0253 a0006c0007t0018g0168 a0006c0078t0004g0316 a0009c0018t0004g0344 a0009c0018t0004g0347 a0009c0018t0018g0291 a0009c0018t0019g0294 a0009c0027t0001g0113 a0009c0027t0001g0286 a0009c0027t0003g0175 a0009c0110t0004g0312 a0012c0054t0022g0377 a0015c0010t0002g0236 a0019c0016t0004g0157 a0019c0016t0004g0178 a0019c0016t0004g0201 a0019c0016t0014g0159 a0019c0016t0014g0160 a0020c0021t0004g0169 a0020c0021t0004g0208 a0020c0021t0004g0359 a0020c0021t0004g0360 a0020c0195t0004g0195 a0022c0081t0004g0039 a0033c0088t0004g0233 a0033c0103t0004g0145 a0033c0105t0001g0050 a0066c0084t0002g0232 a0067c0085t0004g0247 a0069c0082t0019g0330 a0085c0113t0022g0080 a0089c0175t0002g0192 a0095c0090t0016g0112 a0098c0104t0002g0246 a0113c0197t0004g0193	40	400	0.1000	-177	c.377 others(19): Show c.3775+1691_3775+1867del	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UMPS_chr3_124725452_124754273	124750336	CGGGCAGA others(170): Show CGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 NA18954.hp2 HG02040.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0017 a0001c0001t0016 a0001c0001t0017	a0001c0001t0016g0023 a0001c0001t0017g0025 a0001c0001t0016g0023 a0001c0001t0017g0025	2	434	0.0046	-177	c.62 others(11): Show c.6253_*6429del	UMPS	ENSG00000114491.14	transcript	ENST00000232607.7	protein_coding		1064		chr3	TogoVar
UNC5A_chr5_176805559_176885898	176859496	GCCCTTGC others(170): Show GCCCTTGCTAGAGGGCATAGCTGCTAGAATGTCCTTGCTAGAGGGCATAG CTGCTAGAATGTCCTTGCTAGAGGGCATGGCTGCTAGAATGTCCTTGCTA GAGGGCATGGCTGCTACAATGTCCTTGCTAGAGGGCATGGCTGCTAGAAT GCCCTTGCTAGAGGGCATAGCTGCTAGA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01106.hp1 HG02300.hp2 others(1): Show HG01081.hp2 HG01106.hp1 HG02300.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0062 a0001c0001t0002g0063 others(1): Show a0001c0001t0002g0058 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0087	4	268	0.0149	-177	c.71- others(15): Show c.71-3127_71-2951del	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	1/14			chr5	TogoVar
USH2A_chr1_215617891_216428448	216207829	CTTTGGGT others(170): Show CTTTGGGTTTTTGAGAGGAAGCTTTCCATTCCATTAAGCACAATGCTTTA TCTTGCTTCAGAGAGCACAGTGTAAAAGAAAGAATAATATTTGGTGATAT AAATAGCTATGGATGTTAAATAATCTAAATATTATCAAGAAACGATTTGA ATATACTATATGAATGTACCATCACCTG	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03098.hp1 HG02647.hp1 HG03098.hp1	a0027 a0045 a0027 a0045	a0027c0043 a0045c0009 a0027c0043 a0045c0009	a0027c0043t0002 a0045c0009t0008 a0027c0043t0002 a0045c0009t0008	a0027c0043t0002g0047 a0045c0009t0008g0001 a0027c0043t0002g0047 a0045c0009t0008g0001	2	74	0.0270	-177	c.315 others(17): Show c.3158-575_3158-399del	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	15/71			chr1	TogoVar
WDR33_chr2_127696027_127816171	127787393	GTGGCCGG others(170): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGTGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGTCGGGGGGCTGACA CCCCCACCTCCCTCCCGGACGGGGCGGC	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0137 a0001c0001t0003g0137	1	318	0.0031	-177	c.-23 others(19): Show c.-23-16566_-23-16390del	WDR33	ENSG00000136709.12	transcript	ENST00000322313.9	protein_coding	1/21			chr2	TogoVar
WDR33_chr2_127696027_127816171	127788478	ACCCCCAC others(170): Show ACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGAC CCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACC	A A	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	318	0.0031	-177	c.-23 others(19): Show c.-23-17651_-23-17475del	WDR33	ENSG00000136709.12	transcript	ENST00000322313.9	protein_coding	1/21			chr2	TogoVar
XG_chrX_2747040_2821500	2787864	GCCACTGC others(170): Show GCCACTGCACTCCAGCCTGGGCAACAACAGCAAAACTCCTTCTCAAAAAA AAAAAAAAAAAAAGAGAGTCTAGGCAGGGCATGGTGGTCCATGCCTGTAG TCCTAGCTATACTCAGGAGGCTGAGGTAGGAGGATCACTTGAGCCCAGGA GGTGGAGGCTGCAGTGAGCTATGATTCA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02970.hp1 HG00741.hp1 HG02970.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0021 a0002c0003t0031 a0001c0001t0021 a0002c0003t0031	a0001c0001t0021g0021 a0002c0003t0031g0109 a0001c0001t0021g0021 a0002c0003t0031g0109	2	322	0.0062	-177	c.191 others(17): Show c.191-1754_191-1578del	XG	ENSG00000124343.14	transcript	ENST00000644266.2	protein_coding	4/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
YWHAE_chr17_1339275_1405222	1357328	GGGAGGCA others(170): Show GGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCGCTACTGCACTCCAGCCT GGGGGACATAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAATACAAA AAATTAACCGGGCGTGGTGGCGGGTGCCTGTAGTACCAGCTACTTGGGAG GCTGAGGCGAGAGAATCGCCTGAACCCA	G G	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0254 a0001c0001t0004g0254	1	373	0.0027	-177	c.579 others(17): Show c.579-3158_579-2982del	YWHAE	ENSG00000108953.17	transcript	ENST00000264335.13	protein_coding	4/5			chr17	TogoVar
ZAN_chr7_100728595_100802797	100740983	ACCCCCCA others(170): Show ACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGAC	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02895.hp2 HG02897.hp2 others(1): Show HG02809.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp2	a0012 a0012	a0012c0023 a0012c0024 a0012c0023 a0012c0024	a0012c0023t0001 a0012c0024t0001 a0012c0023t0001 a0012c0024t0001	a0012c0023t0001g0305 a0012c0023t0001g0306 a0012c0024t0001g0303 others(1): Show a0012c0023t0001g0305 a0012c0023t0001g0306 a0012c0024t0001g0303 a0012c0024t0001g0304	4	308	0.0130	-177	c.766 others(17): Show c.766+2386_766+2562del	ZAN	ENSG00000146839.19	transcript	ENST00000613979.5	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZFAT_chr8_134472788_134718031	134499029	CGGGGTGG others(170): Show CGGGGTGGAGCTGGGATGCCCCCGTTGCTGGTTACACACAGAGCCTGATT TGGTAGGGTCGGGGTGGAGCTGGGATGCCCCCGTTGCTGGTTACACACAG AGCCTGATTTGGTAGGGTTGGCGTGGAGCTGGGATGCCCCTGCTGCTGGT TACACACAGAGCCTGATTTGGGAGGGTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA19043.hp2 HG01891.hp2 NA19043.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0141 a0001c0004t0001g0142 a0001c0004t0001g0141 a0001c0004t0001g0142	2	274	0.0073	-177	c.349 others(21): Show c.3492+10413_3492+10589del	ZFAT	ENSG00000066827.16	transcript	ENST00000377838.8	protein_coding	15/15			chr8	TogoVar
ZNF114_chr19_48265081_48292608	48272621	CCGAGATC others(170): Show CCGAGATCGTGCCACTGCACTCTAGCCTGGGCGACAGAGCAAGACTCTCT CTCAAAAAAAAAAAAAAAAAAAAAAAAAGTATTGGATTGGAGCCTGTTGT GATGAGGGTGAACTGAAAAGTCCTGGGCAGGGCCAGACGTGCAGGATGCA CTGGTTTCTTACGAGAAAGAGCTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0021 a0003c0004t0001g0021	1	430	0.0023	-177	c.-70 others(15): Show c.-70+794_-70+970del	ZNF114	ENSG00000178150.10	transcript	ENST00000595607.6	protein_coding	3/5			chr19	TogoVar
ZNF117_chr7_64966772_64996036	64967666	CCCCCCCC others(170): Show CCCCCCCCCACCTCCTTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCTCTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGTCTGGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CAGGGCGGCTGGCCGGGCGGGGGGCTGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00741.hp1 HG01255.hp2 others(22): Show HG00099.hp2 HG00741.hp1 HG01255.hp2 HG01928.hp2 HG02129.hp1 HG04204.hp2 NA18949.hp1 NA18950.hp1 NA18963.hp2 NA18967.hp1 NA18970.hp1 NA18981.hp1 NA18985.hp1 NA18990.hp2 NA18992.hp2 NA18994.hp1 NA19000.hp2 NA19003.hp1 NA19011.hp1 NA19012.hp2 NA19054.hp1 NA19078.hp2 NA19081.hp1 NA19087.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 others(14): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0045 a0001c0001t0001g0073 a0001c0001t0001g0088 a0001c0001t0001g0105 a0001c0001t0001g0113 a0001c0001t0001g0124 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0143	25	444	0.0563	-177	c.10 others(13): Show c.10276_*10452del	ZNF117	ENSG00000152926.16	transcript	ENST00000282869.11	protein_coding		4105		chr7	TogoVar
ZNF329_chr19_58121248_58155789	58147419	TGGGGGGC others(170): Show TGGGGGGCCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCGCCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp2 HG02572.hp1 others(15): Show HG01109.hp2 HG01891.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02647.hp2 HG02809.hp2 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03486.hp2 HG03516.hp1 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0003t0002 a0002c0002t0004	a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 others(15): Show a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0006g0046 a0001c0001t0006g0050 a0001c0003t0002g0061 a0001c0003t0002g0062 a0001c0003t0002g0063 a0002c0002t0004g0048	18	422	0.0427	-177	c.-20 others(19): Show c.-208+3156_-208+3332del	ZNF329	ENSG00000181894.15	transcript	ENST00000598312.6	protein_coding	1/3			chr19	TogoVar
ZNF566_chr19_36440119_36494561	36491341	TGGGGGGG others(170): Show TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTTCGGGAGGGAGGT GGGGGGGTCAGTCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGCGAGGG GCGCCTCTGCCTGGCCACCCCTACTGGGAATTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02723.hp1 HG02965.hp1 others(3): Show HG02258.hp2 HG02723.hp1 HG02965.hp1 HG03130.hp2 HG03486.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0286 a0001c0002t0007g0287 a0001c0002t0007g0288 others(3): Show a0001c0002t0007g0286 a0001c0002t0007g0287 a0001c0002t0007g0288 a0001c0002t0007g0289 a0001c0002t0007g0290 a0001c0002t0007g0291	6	302	0.0199	-177	c.-20 others(11): Show c.-2092_-1916del	ZNF566	ENSG00000186017.16	transcript	ENST00000452939.7	protein_coding		1781		chr19	TogoVar
ZNF641_chr12_48332180_48355919	48332970	ACCCCCCC others(170): Show ACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAC GGCACGGCTGGCCAGGCGGGGGGCTGAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG03041.hp2 HG02258.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0028 a0001c0001t0003g0028	2	408	0.0049	-177	c.98 others(12): Show c.9826_*10002del	ZNF641	ENSG00000167528.13	transcript	ENST00000547026.6	protein_coding		4209		chr12	TogoVar
ABCC2_chr10_99777640_99857594	99838410	CGGCTGGC others(169): Show CGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGA GCCCCCCATCTCCCTCCCGGACGGGGT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG03225.hp2 HG01074.hp1 HG03225.hp2	a0005 a0015 a0005 a0015	a0005c0008 a0015c0020 a0005c0008 a0015c0020	a0005c0008t0001 a0015c0020t0001 a0005c0008t0001 a0015c0020t0001	a0005c0008t0001g0028 a0015c0020t0001g0314 a0005c0008t0001g0028 a0015c0020t0001g0314	2	336	0.0060	-176	c.361 others(19): Show c.3614+2133_3614+2308del	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABL2_chr1_179094330_179234677	179135583	TCGTCCGG others(169): Show TCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCC CATCCGGGAGGGAGGTGAGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCC ATCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCTGCCC	T T	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0207 a0001c0001t0036g0207	1	350	0.0029	-176	c.158 others(17): Show c.158-2385_158-2210del	ABL2	ENSG00000143322.22	transcript	ENST00000502732.6	protein_coding	1/11			chr1	TogoVar
ABR_chr17_998519_1184981	1052722	CGGAAGGG others(169): Show CGGAAGGGGCTGGGGGACGGCTCACAGGGTCAGAGGGAGGGTTCCGGAAG GGGCTGGGGGAGGGTTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTG GGGGAGGGTTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAG GGGTCACAGGGTCAGAGGGAGGGTTCA	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01192.hp1 HG01891.hp1 others(7): Show HG01175.hp1 HG01192.hp1 HG01891.hp1 HG01928.hp2 HG01975.hp2 HG01978.hp2 HG02074.hp1 HG02273.hp1 HG02738.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0019 a0001c0001t0032 a0001c0001t0082 a0001c0003t0012	a0001c0001t0003g0222 a0001c0001t0004g0334 a0001c0001t0004g0335 others(7): Show a0001c0001t0003g0222 a0001c0001t0004g0334 a0001c0001t0004g0335 a0001c0001t0005g0277 a0001c0001t0005g0318 a0001c0001t0007g0325 a0001c0001t0019g0057 a0001c0001t0032g0259 a0001c0001t0082g0302 a0001c0003t0012g0105	10	337	0.0297	-176	c.156 others(19): Show c.1562-2264_1562-2089del	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	14/22			chr17	TogoVar
ABR_chr17_998519_1184981	1053006	CTCACAGG others(169): Show CTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGTTCACA GGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGGTCACAGGGTCA GAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGGTCACAGGGTCAGAGGGA GGGTTCCGGAAGGGGCTGGGGGAGGGG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02572.hp1 HG02809.hp1 HG01884.hp2 HG02572.hp1 HG02809.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0017 a0001c0003t0021 a0001c0003t0016 a0001c0003t0017 a0001c0003t0021	a0001c0003t0016g0163 a0001c0003t0017g0120 a0001c0003t0021g0276 a0001c0003t0016g0163 a0001c0003t0017g0120 a0001c0003t0021g0276	3	337	0.0089	-176	c.156 others(19): Show c.1562-2548_1562-2373del	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	14/22			chr17	TogoVar
ABR_chr17_998519_1184981	1053138	GTCACAGG others(169): Show GTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGGTCACA GGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGCTCACAGGGTCA GAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGTTCACAGGGTCAGAGGGA GGGTTCCGGAAGGGGCTGGGGGAGGGT	G G	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	337	0.0030	-176	c.156 others(19): Show c.1562-2680_1562-2505del	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	14/22			chr17	TogoVar
ABR_chr17_998519_1184981	1159520	TAGGAATG others(169): Show TAGGAATGCGGTACTCACACACGGGAGAAGTAGGAATGCGGTACTCACAC ACGGGAGAAGTAAGAATGCGGTACTCACACACATGAGAAGTAAGAATGCG GTACTCACGCACAAGGGAAGTATGCGGTACTCACACACAGGAGAAGTAAG AATGCGGTACTCACACACAGGAGAAGC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02615.hp1 HG02976.hp1 others(2): Show HG01109.hp2 HG02615.hp1 HG02976.hp1 HG03209.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009	a0001c0001t0005 a0001c0001t0075 a0001c0002t0092 others(2): Show a0001c0001t0005 a0001c0001t0075 a0001c0002t0092 a0001c0003t0083 a0001c0009t0018	a0001c0001t0005g0282 a0001c0001t0075g0156 a0001c0002t0092g0336 others(2): Show a0001c0001t0005g0282 a0001c0001t0075g0156 a0001c0002t0092g0336 a0001c0003t0083g0285 a0001c0009t0018g0102	5	337	0.0148	-176	c.61+ others(17): Show c.61+19971_61+20146del	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACOT7_chr1_6259272_6398767	6305129	TCTTCCCA others(169): Show TCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGA GGCGGCTGGCCGGGCGGGGGGCTGTCCCCCCCACATCCTTCCCGGACGGG GCGGCGGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGTCCGGGCAGAGGGGCTCCTCA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02818.hp2 HG02922.hp2 others(3): Show HG02622.hp2 HG02818.hp2 HG02922.hp2 HG03098.hp2 HG03139.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010	a0001c0001t0003g0162 a0001c0001t0003g0165 a0001c0001t0003g0186 others(3): Show a0001c0001t0003g0162 a0001c0001t0003g0165 a0001c0001t0003g0186 a0001c0001t0004g0198 a0001c0001t0006g0210 a0001c0001t0010g0163	6	240	0.0250	-176	c.713 others(19): Show c.713-10325_713-10150del	ACOT7	ENSG00000097021.21	transcript	ENST00000361521.9	protein_coding	6/8			chr1	TogoVar
ACR_chr22_50733204_50750339	50748533	ATCCGAGG others(169): Show ATCCGAGGAGTGTGCCCACCTAGACATCCGAGGGGTGTGCCCACCTAGAC AATCTGAGGGGTGTGCTCACCTAGACATCCGAGGGGTGTGCCCACCTAGA CAACCGAGGAGTGTGCCCACCTAGACATCCGAGGGGTGTGCCCACCTAGA CATCCGAGGGGTGTGCCCACCTAGACT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	464	0.0022	-176	c.33 others(11): Show c.3327_*3502del	ACR	ENSG00000100312.11	transcript	ENST00000216139.10	protein_coding		3195		chr22	TogoVar

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Search Results (Total: 10000 hits)