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
WDR33_chr2_127696027_127816171	127787847	CCCCCCCA others(171): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC ACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGTTGGCTGGCCGGGCGGGGGGGCTGACA	C C	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0316 a0001c0001t0005g0316	1	318	0.0031	-178	c.-23 others(19): Show c.-23-17021_-23-16844del	WDR33	ENSG00000136709.12	transcript	ENST00000322313.9	protein_coding	1/21			chr2	TogoVar
WDR81_chr17_1719704_1743585	1739381	AGCCGGAC others(171): Show AGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAG GACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGAGCAGGTGTG AGGGCGGGAAGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGT GGGAAGGAGCCTGATGCAGGGAGTGAGGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 HG02148.hp1 HG02273.hp1 others(3): Show HG02004.hp2 HG02148.hp1 HG02273.hp1 HG04115.hp2 NA19074.hp1 NA19087.hp1	a0001 a0001	a0001c0003 a0001c0017 a0001c0063 a0001c0003 a0001c0017 a0001c0063	a0001c0003t0001 a0001c0017t0001 a0001c0063t0001 a0001c0003t0001 a0001c0017t0001 a0001c0063t0001	a0001c0003t0001g0003 a0001c0017t0001g0003 a0001c0063t0001g0003 a0001c0003t0001g0003 a0001c0017t0001g0003 a0001c0063t0001g0003	6	431	0.0139	-178	c.16 others(11): Show c.1697_*1874del	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		797		chr17	TogoVar
ACAP3_chr1_1287391_1312930	1289805	CCGTGTCT others(170): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCGTCC CCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCCCGTGTCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0211 a0003c0004t0001g0211	1	295	0.0034	-177	c.35 others(11): Show c.3582_*3758del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2585		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289832	TCTGCCCC others(170): Show TCTGCCCCGTCCCGTGTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCG TCCCGTGTCCCTGCTCCGTCCCGTGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0180 a0001c0001t0002g0180	1	295	0.0034	-177	c.35 others(11): Show c.3555_*3731del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2558		chr1	TogoVar
AFF3_chr2_99540419_100147590	100016452	ATGGTGAT others(170): Show ATGGTGATGGTGGTGGTAATGGTGTTGGTGATGAAAGTGGTGATGGTACT GGTGGTGATAGTGGTGGTGGCGGTAGTGGTGGTGATGGTGGTAGCGATGG TGATAGTATTGGTGGTGAACATGTTAGTGACAGTAGTGATGGTGGTGGTG GTAGTGGTGGTAATGGTGATGGTGGTGG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03516.hp1 HG02647.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0017 a0001c0001t0012 a0001c0001t0017	a0001c0001t0012g0008 a0001c0001t0017g0010 a0001c0001t0012g0008 a0001c0001t0017g0010	2	100	0.0200	-177	c.54- others(15): Show c.54-7697_54-7521del	AFF3	ENSG00000144218.21	transcript	ENST00000672756.2	protein_coding	4/24			chr2	TogoVar
AFF3_chr2_99540419_100147590	100016531	TGGTGATG others(170): Show TGGTGATGGTGGTAGCGATGGTGATAGTATTGGTGGTGAACATGTTAGTG ACAGTAGTGATGGTGGTGGTGGTAGTGGTGGTAATGGTGATGGTGGTGGT GGTGATGGTGGTGGTAATGGTGTTGGTGATGAAAGTGGTGATGGTACTGG CAGTGATGGTGGTGGTGGCGGTAGTGGC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02615.hp2 HG01891.hp1 HG02615.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0010 a0001c0001 a0004c0010	a0001c0001t0008 a0004c0010t0005 a0001c0001t0008 a0004c0010t0005	a0001c0001t0008g0001 a0004c0010t0005g0074 a0001c0001t0008g0001 a0004c0010t0005g0074	2	100	0.0200	-177	c.54- others(15): Show c.54-7776_54-7600del	AFF3	ENSG00000144218.21	transcript	ENST00000672756.2	protein_coding	4/24			chr2	TogoVar
AGPAT4_chr6_161124967_161279061	161265121	TGCTGGAC others(170): Show TGCTGGACTGGGTGCTGGATTAGTACCCACCGCTGGACTGGGTGCTGATT AGTACCCACCGCTGGACTGGGTGCTGGATTAGTACCCACCGCTGGACTGG GTGCTGATTAGTACCCACCGCTGGACTGGGTGCTGGATTAGTACCCACCG CTGGACTGGGTGCTGATTAGTACCCACC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp1 HG02109.hp2 others(15): Show HG01243.hp2 HG02055.hp1 HG02109.hp2 HG02145.hp1 HG02280.hp2 HG02559.hp2 HG02615.hp1 HG02723.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG03130.hp2 HG03209.hp2 HG03579.hp1 NA18522.hp1 NA19030.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 others(8): Show a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0021 a0001c0001t0024 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0034 a0001c0001t0049	a0001c0001t0012g0167 a0001c0001t0014g0138 a0001c0001t0014g0139 others(15): Show a0001c0001t0012g0167 a0001c0001t0014g0138 a0001c0001t0014g0139 a0001c0001t0014g0192 a0001c0001t0014g0214 a0001c0001t0014g0215 a0001c0001t0014g0217 a0001c0001t0015g0051 a0001c0001t0015g0140 a0001c0001t0019g0201 a0001c0001t0021g0216 a0001c0001t0024g0261 a0001c0001t0029g0005 a0001c0001t0030g0169 a0001c0001t0030g0170 a0001c0001t0032g0137 a0001c0001t0034g0218 a0001c0001t0049g0219	18	264	0.0682	-177	c.-90 others(17): Show c.-90+8640_-90+8816del	AGPAT4	ENSG00000026652.15	transcript	ENST00000320285.9	protein_coding	1/8			chr6	TogoVar
AHI1_chr6_135278532_135502740	135363870	GGGGCGGC others(170): Show GGGGCGGCTGGCCGGACGGGGGGCTGACCCCCCCCACCTCCCTCCCGGAT GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACA	G G	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	220	0.0046	-177	c.311 others(19): Show c.3110-5860_3110-5684del	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	23/28			chr6	TogoVar
AMFR_chr16_56356452_56430545	56397954	TAATATAT others(170): Show TAATATATAAATGTATCATTTATAATATATAAATGTATCATTTATAATAT ATAAATGTATCATTTATAATATATAAATGTATCATTTATAATATATAAAT GTATCATTTATAATATATAAATGTATCATTTATAATATATAAATGTATCA TTTATAATATATAAATGTATCATTTATA	T T	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02559.hp2 HG02896.hp1 others(4): Show HG02080.hp1 HG02559.hp2 HG02896.hp1 HG02897.hp2 HG03041.hp1 HG03453.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 others(4): Show a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0295	7	356	0.0197	-177	c.108 others(19): Show c.1085+3602_1085+3778del	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	8/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56397976	TAATATAT others(170): Show TAATATATAAATGTATCATTTATAATATATAAATGTATCATTTATAATAT ATAAATGTATCATTTATAATATATAAATGTATCATTTATAATATATAAAT GTATCATTTATAATATATAAATGTATCATTTATAATATATAAATGTATCA TTTATAATATATAACTCTATCATTTATA	T T	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02523.hp1 HG02886.hp2 others(7): Show HG02015.hp2 HG02523.hp1 HG02886.hp2 HG03195.hp1 NA18747.hp1 NA18944.hp1 NA18947.hp1 NA18960.hp1 NA18971.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0297 a0001c0001t0001g0318 a0001c0001t0003g0243 others(7): Show a0001c0001t0001g0297 a0001c0001t0001g0318 a0001c0001t0003g0243 a0001c0001t0003g0252 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0004g0316	10	356	0.0281	-177	c.108 others(19): Show c.1085+3580_1085+3756del	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	8/13			chr16	TogoVar
ARF3_chr12_48930723_48962487	48959096	GGTAAGGG others(170): Show GGTAAGGGATGAGATGGATGACAAGGAACCTGTTTATAACAAGGAATTAT ATCTGTCCTGGGCACTGCTATTAAGGGCTGCTGCCCTGCTAATCTCTGTG GGTTGTTTTTGTTTTTGTGTGTGTGTTTGTTTGTTTGTTTGTTTGTTTGT TTTTGAGATGGAGTCTCGCTCTGTCACC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	348	0.0029	-177	c.-20 others(11): Show c.-2057_-1881del	ARF3	ENSG00000134287.10	transcript	ENST00000256682.9	protein_coding		1610		chr12	TogoVar
ARFGEF1_chr8_67192658_67348781	67311242	AGGTCAGC others(170): Show AGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGGTCAGCCCCCCCGCCCGGCCAGCTGCCCCATCCAGGAGGTGAGGGGCG CCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGG	A A	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	208	0.0048	-177	c.125 others(17): Show c.125-8953_125-8777del	ARFGEF1	ENSG00000066777.9	transcript	ENST00000262215.8	protein_coding	1/38			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144531191	AGAGCAGC others(170): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGG CAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAG CAGGCACGGCAGAAGGGCACAGGGCAGC	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0126 a0001c0002t0001g0126	1	246	0.0041	-177	c.298 others(17): Show c.2981-497_2981-321del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144531682	AGGCTAGA others(170): Show AGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAG GTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGG GAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCA CAGGGCAGCGAGCAGCAGGTGGGGAGTG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02486.hp1 HG03041.hp2 others(2): Show HG00323.hp2 HG02486.hp1 HG03041.hp2 HG03225.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0001t0001 a0001c0001t0005 a0001c0002t0001	a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0208 others(2): Show a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0208 a0001c0001t0005g0243 a0001c0002t0001g0126	5	246	0.0203	-177	c.298 others(17): Show c.2980+446_2980+622del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144531859	GGGCTAGA others(170): Show GGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAG GTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGG GAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAGGCACGGCAGAAGGGCA CAGGGCAGGGAGCAGCAGGTGGGGAGTA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0239 a0001c0001t0007g0239	1	246	0.0041	-177	c.298 others(17): Show c.2980+269_2980+445del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1874837	CGGCGTGT others(170): Show CGGCGTGTAGGGGGTAGAGGTTCTAAGACAGTCTGGTGGGAGAGTGCAGA CACACCCGGGGCCGTGTAGGGGGTACAGGTTCTAAGACAGTCTGGTGGGA GAGTGCAGACACACACGGGGCTGTGTCGGGGATAGAGGTTCTAAGACAGT CTGGTGGGAGAGTGCAGACACACACCAG	C C	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA18522.hp2 HG04204.hp2 NA18522.hp2	a0001 a0011 a0001 a0011	a0001c0003 a0011c0138 a0001c0003 a0011c0138	a0001c0003t0007 a0011c0138t0011 a0001c0003t0007 a0011c0138t0011	a0001c0003t0007g0102 a0011c0138t0011g0353 a0001c0003t0007g0102 a0011c0138t0011g0353	2	363	0.0055	-177	c.680 others(17): Show c.680-1703_680-1527del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1874912	CAGGTTCT others(170): Show CAGGTTCTAAGACAGTCTGGTGGGAGAGTGCAGACACACACGGGGCTGTG TCGGGGATAGAGGTTCTAAGACAGTCTGGTGGGAGAGTGCAGACACACAC CAGGGCGTGTAGGGGGTAGAGGTTCTAAGACAGGCTGGAGGAACAGTGGA GACACACACCACGGCGTGTAGGGGGTAG	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0023 a0023	a0023c0089 a0023c0089	a0023c0089t0034 a0023c0089t0034	a0023c0089t0034g0350 a0023c0089t0034g0350	1	363	0.0028	-177	c.680 others(17): Show c.680-1620_680-1444del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1874971	GAGGTTCT others(170): Show GAGGTTCTAAGACAGTCTGGTGGGAGAGTGCAGACACACACCAGGGCGTG TAGGGGGTAGAGGTTCTAAGACAGGCTGGAGGAACAGTGGAGACACACAC CACGGCGTGTAGGGGGTAGAGGTTCTAAGACAGTCTGGTGGGAGAGTGCA GACACACCCGGGGCCGTGTAGGGGGTAC	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02622.hp1 HG02723.hp1 HG02257.hp1 HG02622.hp1 HG02723.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0007 a0002c0024 a0001c0003 a0001c0007 a0002c0024	a0001c0003t0035 a0001c0007t0003 a0002c0024t0053 a0001c0003t0035 a0001c0007t0003 a0002c0024t0053	a0001c0003t0035g0180 a0001c0007t0003g0143 a0002c0024t0053g0178 a0001c0003t0035g0180 a0001c0007t0003g0143 a0002c0024t0053g0178	3	363	0.0083	-177	c.680 others(17): Show c.680-1559_680-1383del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP11A_chr13_112685038_112892168	112803706	TCTCATTC others(170): Show TCTCATTCCCCTCCTTCCCTCCCTGACCTCCTTCCCCTCCTTCTCTCATT CCCCTCCTTCCCTCCTTCCTCTCCCTCCCCTCCCTGCCTTACTTCCCCTC CCTCCCCTCCTTCCTCTCCTTCCCCTCCTCCTCCTTCCTCTCCTTCCCCT CCTTTTCCTCCTTGCTTCCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03041.hp1 HG03130.hp2 others(3): Show HG02922.hp2 HG03041.hp1 HG03130.hp2 HG03209.hp1 HG03486.hp2 HG03579.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0020 others(1): Show a0001c0001 a0001c0002 a0001c0020 a0004c0015	a0001c0001t0021 a0001c0001t0067 a0001c0002t0015 others(3): Show a0001c0001t0021 a0001c0001t0067 a0001c0002t0015 a0001c0002t0039 a0001c0020t0008 a0004c0015t0002	a0001c0001t0021g0092 a0001c0001t0067g0093 a0001c0002t0015g0163 others(3): Show a0001c0001t0021g0092 a0001c0001t0067g0093 a0001c0002t0015g0163 a0001c0002t0039g0212 a0001c0020t0008g0063 a0004c0015t0002g0087	6	254	0.0236	-177	c.163 others(17): Show c.163-1229_163-1053del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
BANP_chr16_87946434_88082316	87989681	CATATCCA others(170): Show CATATCCAGGACACAGGACACAGGGTGGGCGACGGGGGATGCAGGCCCGC GTGGCTGCGCGCATCCAGGACACAGGACACAGGGCGGGTGACGGGGGATG CAGGCCCGCGTGGCTGCGCGCATCCAGGACACAGGACACAGGGCGGGTGA TGGGGGATGCAGGCCCGCGTGGCTGCGT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0005 a0001c0009t0005	a0001c0009t0005g0102 a0001c0009t0005g0102	1	352	0.0028	-177	c.362 others(17): Show c.362+5423_362+5599del	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	4/13			chr16	TogoVar
BDP1_chr5_71450651_71572820	71525269	CCCCCCCA others(170): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGAT GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACA	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01943.hp1 HG01978.hp2 others(7): Show HG01433.hp1 HG01943.hp1 HG01978.hp2 HG02027.hp1 HG03669.hp2 HG03710.hp2 HG04199.hp1 HG06807.hp1 NA19082.hp1 NA19087.hp1	a0004 a0031 a0004 a0031	a0004c0004 a0031c0029 a0004c0004 a0031c0029	a0004c0004t0004 a0031c0029t0004 a0004c0004t0004 a0031c0029t0004	a0004c0004t0004g0311 a0004c0004t0004g0312 a0004c0004t0004g0313 others(7): Show a0004c0004t0004g0311 a0004c0004t0004g0312 a0004c0004t0004g0313 a0004c0004t0004g0314 a0004c0004t0004g0315 a0004c0004t0004g0316 a0004c0004t0004g0318 a0004c0004t0004g0319 a0004c0004t0004g0320 a0031c0029t0004g0317	10	325	0.0308	-177	c.577 others(18): Show c.5772+985_5772+1161del	BDP1	ENSG00000145734.20	transcript	ENST00000358731.9	protein_coding	25/38		INFO_REALIGN_3_PRIME	chr5	TogoVar
C8orf82_chr8_144520733_144534111	144531191	AGAGCAGC others(170): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGG CAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAG CAGGCACGGCAGAAGGGCACAGGGCAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG03225.hp2 HG02818.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0002 a0001c0001t0001g0004	2	398	0.0050	-177	c.-24 others(11): Show c.-2452_-2276del	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2081		chr8	TogoVar
C8orf82_chr8_144520733_144534111	144531682	AGGCTAGA others(170): Show AGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAG GTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGG GAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCA CAGGGCAGCGAGCAGCAGGTGGGGAGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00673.hp2 HG02056.hp2 others(6): Show HG00323.hp2 HG00673.hp2 HG02056.hp2 HG02486.hp1 HG02818.hp1 HG03041.hp2 HG03225.hp2 NA19012.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0002t0002g0001 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0002t0002g0001 a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0008 a0001c0002t0002g0009	9	398	0.0226	-177	c.-29 others(11): Show c.-2943_-2767del	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2572		chr8	TogoVar
C8orf82_chr8_144520733_144534111	144531859	GGGCTAGA others(170): Show GGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAG GTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGG GAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAGGCACGGCAGAAGGGCA CAGGGCAGGGAGCAGCAGGTGGGGAGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0051 a0001c0003t0004g0051	1	398	0.0025	-177	c.-31 others(11): Show c.-3120_-2944del	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2749		chr8	TogoVar
CAMTA1_chr1_6780454_7774706	6798595	TTTTTTTT others(170): Show TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGC GGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCC CGCCACCGCGCCCGGCTAATTTTTTGTA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00735.hp1 HG01243.hp1 others(15): Show HG00558.hp2 HG00735.hp1 HG01243.hp1 HG01496.hp2 HG01884.hp2 HG02132.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02523.hp1 HG02523.hp2 HG02630.hp2 HG02723.hp2 HG03041.hp1 HG03130.hp1 NA18999.hp2 NA20300.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0021 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0003t0001 a0002c0004t0011 a0002c0004t0018	a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0013 others(15): Show a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0004g0034 a0001c0001t0007g0021 a0001c0001t0008g0003 a0001c0001t0012g0019 a0001c0001t0021g0014 a0001c0002t0001g0020 a0001c0002t0003g0006 a0001c0002t0006g0008 a0001c0003t0001g0004 a0001c0003t0001g0012 a0002c0004t0011g0005 a0002c0004t0018g0015	18	58	0.3103	-177	c.45+ others(17): Show c.45+13026_45+13202del	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CCDC126_chr7_23592382_23649708	23637549	TGGCCAGC others(170): Show TGGCCAGCCGCCCCTTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCTCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCGACCAGCCGCCCCGTCCAGGAG GGAGGTGGGGGGGGTCAGCCCCCCGCCC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA18991.hp2 HG02615.hp1 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0213 a0001c0001t0001g0149 a0001c0001t0001g0213	2	380	0.0053	-177	c.239 others(17): Show c.239-5368_239-5192del	CCDC126	ENSG00000169193.12	transcript	ENST00000307471.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CEP112_chr17_65630537_66197133	65937615	GTGGGGGG others(170): Show GTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGTGAG GGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCCCGCCC GGCCAGCCGCCCAGTCTGGGAGGGGGGTGGGGGCGTCAGCCCCCCAGCCC AGCCAGCCGCCCCGTCTGGGAGGGGGGT	G G	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02027.hp2 HG02280.hp1 others(3): Show HG01346.hp2 HG02027.hp2 HG02280.hp1 HG02572.hp2 HG03688.hp2 NA18985.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0004c0006 a0001c0003 a0004c0006	a0001c0003t0001 a0001c0003t0002 a0004c0006t0002 a0001c0003t0001 a0001c0003t0002 a0004c0006t0002	a0001c0003t0001g0006 a0001c0003t0001g0033 a0001c0003t0001g0074 others(3): Show a0001c0003t0001g0006 a0001c0003t0001g0033 a0001c0003t0001g0074 a0001c0003t0002g0109 a0001c0003t0002g0112 a0004c0006t0002g0110	6	112	0.0536	-177	c.187 others(20): Show c.1873-10103_1873-9927del	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	18/26			chr17	TogoVar
COL4A2_chr13_110302284_110518209	110481743	TTGCTGGA others(170): Show TTGCTGGAGACACACAGTTCTGTCCCTCCATTGCTGGAGACACACTGCTC TGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAGA CACACTGCTCTGTCCCTCCGTGCTGGAGACACACTGCTCTGTCCCTCCGT GCTGGAGACACACTGCTCTGTCCCTCCG	T T	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0013 a0013	a0013c0042 a0013c0042	a0013c0042t0002 a0013c0042t0002	a0013c0042t0002g0313 a0013c0042t0002g0313	1	372	0.0027	-177	c.275 others(17): Show c.2759-758_2759-582del	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
CYB5R3_chr22_42612840_42654392	42618373	TAAAAATA others(170): Show TAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp1 HG02630.hp2 HG01243.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0064 a0001c0001t0049 a0001c0001t0064	a0001c0001t0049g0151 a0001c0001t0064g0107 a0001c0001t0049g0151 a0001c0001t0064g0107	2	360	0.0056	-177	c.12 others(11): Show c.1223_*1399del	CYB5R3	ENSG00000100243.22	transcript	ENST00000352397.10	protein_coding	9/9	1223		chr22	TogoVar
DDX51_chr12_132131594_132149319	132135285	CCCGAGTG others(170): Show CCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCG GTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTACCTCC CACCTCCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCGAGTG TGCCCACGGTGCCCGCTACCTCCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 NA18906.hp2 HG01891.hp2 NA18906.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0013 a0004c0012t0013	a0004c0012t0013g0018 a0004c0012t0013g0018	2	334	0.0060	-177	c.38 others(11): Show c.3810_*3986del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1308		chr12	TogoVar
DHRSX_chrX_2214506_2505976	2277243	GGGGGAAA others(170): Show GGGGGAAAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAG GGCAAACGAGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAA AGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGA GAGGGAGAGAGAAGGAGGGGAGGAAATA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02886.hp2 homoSapiens_chm13v2.hp1 HG02630.hp1 HG02886.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0005 a0003c0003 a0005c0006 a0002c0005 a0003c0003 a0005c0006	a0002c0005t0008 a0003c0003t0002 a0005c0006t0004 a0002c0005t0008 a0003c0003t0002 a0005c0006t0004	a0002c0005t0008g0010 a0003c0003t0002g0013 a0005c0006t0004g0034 a0002c0005t0008g0010 a0003c0003t0002g0013 a0005c0006t0004g0034	3	50	0.0600	-177	c.389 others(19): Show c.389-10473_389-10297del	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
DYM_chr18_49031387_49465645	49080248	GGGCAGAG others(170): Show GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCGGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCC AACTCCCTCCCGGACGGGGTGGCTGGCCGGGCGAGGGGCTGAGCCCCCCA CCTCCCTCCCGGACGGGGTGGCTGGCCC	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0006 a0005c0006t0006	a0005c0006t0006g0157 a0005c0006t0006g0157	1	290	0.0035	-177	c.202 others(21): Show c.2025+16977_2025+17153del	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	17/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49080284	GGGGCAGA others(170): Show GGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGG GGCTGACCCCCCCCAACTCCCTCCCGGACGGGGTGGCTGGCCGGGCGAGG GGCTGAGCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCCGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCT	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01346.hp2 HG02132.hp1 others(7): Show HG01074.hp2 HG01346.hp2 HG02132.hp1 HG02135.hp2 HG02155.hp1 HG03688.hp2 HG03831.hp2 NA18953.hp2 NA18991.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0015 others(1): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0015 a0001c0001t0032	a0001c0001t0002g0034 a0001c0001t0008g0011 a0001c0001t0008g0012 others(7): Show a0001c0001t0002g0034 a0001c0001t0008g0011 a0001c0001t0008g0012 a0001c0001t0008g0014 a0001c0001t0008g0016 a0001c0001t0008g0019 a0001c0001t0008g0033 a0001c0001t0015g0015 a0001c0001t0015g0018 a0001c0001t0032g0013	10	290	0.0345	-177	c.202 others(21): Show c.2025+16941_2025+17117del	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	17/17			chr18	TogoVar
EML1_chr14_99788413_99947060	99927946	TGGTGGTG others(170): Show TGGTGGTGGAGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGAT GGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGG TGGTGGTGGAGGTGGTGGTGGTGGTGGA	T T	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0144 a0002c0001t0002g0144	1	288	0.0035	-177	c.190 others(19): Show c.1909+7078_1909+7254del	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
ERFL_chr19_41902704_41933449	41914661	TGTCTCTC others(170): Show TGTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTCCCTCCCCTTCCACCA TCTCTGTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTCCCTCCCCTTCC ACCGTCTCTGTCTCTCCCTCCCCTTCCACCGTCTCTGTCTCTCCCTCCCC CTCCACCGTGTCTCCCCCCCTTTCCACC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 NA18980.hp2 NA19070.hp1 others(1): Show HG00642.hp2 NA18980.hp2 NA19070.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0105 a0001c0001t0001g0008 a0001c0001t0001g0105	4	330	0.0121	-177	c.-13 others(17): Show c.-13-1906_-13-1730del	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
FAM161A_chr2_61819848_61859060	61848902	ATATATTT others(170): Show ATATATTTATATATTTATATATATTTATATATATATATTTATATATATTT ATATATATATTTATATATATATATATTTATATATTTATATATATTTATAT ATATATTTATATATTTATATATATTTATATATATATTTATATATTTATAT ATATTTATATATATATAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	400	0.0025	-177	c.183 others(17): Show c.183+4780_183+4956del	FAM161A	ENSG00000170264.13	transcript	ENST00000404929.6	protein_coding	1/6			chr2	TogoVar
FAM174B_chr15_92612448_92660775	92630816	ATATTACA others(170): Show ATATTACATATTATATATTATATATATTACATATTACATGTTACATATTA CATATTATATATTATATATTACGTATTACATATTACATATTATATATTAT ATATTACGTATTACATATTACATATTATATATTATATATTACGTATTACA TATTACATATTATATATTATATATTACG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02630.hp1 NA20752.hp1 HG00642.hp1 HG02630.hp1 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0004 a0001c0001t0011 a0003c0004t0004 a0001c0001t0004 a0001c0001t0011 a0003c0004t0004	a0001c0001t0004g0131 a0001c0001t0011g0132 a0003c0004t0004g0368 a0001c0001t0004g0131 a0001c0001t0011g0132 a0003c0004t0004g0368	3	394	0.0076	-177	c.345 others(15): Show c.345-648_345-472del	FAM174B	ENSG00000185442.13	transcript	ENST00000327355.6	protein_coding	1/2			chr15	TogoVar
FCHO1_chr19_17746477_17793561	17793131	AGTGGTGC others(170): Show AGTGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGA TTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACC ACACCTGGCTAATATTTTTGTTTTTTGTTTTTTTTTTTTTGAGATGGAGT CTCACTCTATCTCCCAGACTGGAGTGCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp1 NA19080.hp1 NA18979.hp1 NA19080.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0015 a0001c0001 a0008c0015	a0001c0001t0001 a0008c0015t0001 a0001c0001t0001 a0008c0015t0001	a0001c0001t0001g0327 a0008c0015t0001g0336 a0001c0001t0001g0327 a0008c0015t0001g0336	2	352	0.0057	-177	c.48 others(11): Show c.4826_*5002del	FCHO1	ENSG00000130475.16	transcript	ENST00000596536.6	protein_coding		4571		chr19	TogoVar
FOXN3_chr14_89151177_89422233	89361770	CACCACCT others(170): Show CACCACCTCCAGCACCACCACCTCCACCACCACCACCTCCACCACCACCT CCACCACCACCTCCACCACTACCACCTCCAGCACTACCTCCACCACCACC ACCTCCAGCACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCAC CACCACCTCCAGCACCACCTCCACCACT	C C	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0060 a0001c0001t0007g0060	1	230	0.0044	-177	c.544 others(19): Show c.544-11139_544-10963del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXQ1_chr6_1307098_1319758	1319581	AAAAATAC others(170): Show AAAAATACAAAATTAGCCGGGCGCGGTGGCGCACGCCTGTAATCCCAGCA CTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGTTAGGAAGTTCAAGACT AGCCTGACCAACATGGAGAAACCCCGTCACTACTAAAAATACAAAATTAG CCGGGCAGCGGTGGCGCACGCCTGTAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0000 a0001c0001t0010g0000	1	406	0.0025	-177	c.56 others(11): Show c.5666_*5842del	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		4824		chr6	TogoVar
GAL3ST2_chr2_241771822_241809287	241805825	TCCCCCCT others(170): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCT CCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCC CCTCAGCCCAAGGGACCTAGGCAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	314	0.0032	-177	c.16 others(11): Show c.1660_*1836del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1539		chr2	TogoVar
GARIN5B_chr19_55349908_55368260	55361614	TCCCTCCT others(170): Show TCCCTCCTCCCTCAGACCCAGGAGTCCAGGGCCCCAGCCTCTCCTCCCTT GACTCAGGGGTCCAGGCCTCAGTTCCTCCTCCCTCAGACCCAGGAGTCCC CAGCCCCTCCTCCCTCAGACCCAGGAGTTCAGACTGCCAGCCCTCCACCC TCAGACCCAGGAGTCCAGACCCCACAGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(144): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02293.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG03239.hp2 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03669.hp2 HG03831.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18977.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18992.hp2 NA18994.hp1 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19007.hp1 NA19010.hp2 NA19011.hp2 NA19058.hp2 NA19060.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19083.hp1 NA19084.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2	a0001 a0007 a0012 others(8): Show a0001 a0007 a0012 a0018 a0025 a0029 a0030 a0031 a0032 a0034 a0035	a0001c0001 a0001c0014 a0001c0030 others(10): Show a0001c0001 a0001c0014 a0001c0030 a0007c0010 a0012c0012 a0018c0041 a0025c0033 a0029c0024 a0030c0026 a0031c0029 a0032c0027 a0034c0031 a0035c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0014t0003 a0001c0030t0001 a0007c0010t0001 a0012c0012t0001 a0012c0012t0002 a0018c0041t0002 a0025c0033t0002 a0029c0024t0001 a0030c0026t0002 a0031c0029t0002 a0032c0027t0001 a0034c0031t0002 a0035c0023t0001	a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0025 others(43): Show a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0002g0003 a0001c0001t0002g0016 a0001c0001t0002g0023 a0001c0001t0002g0028 a0001c0001t0002g0050 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0085 a0001c0001t0002g0092 a0001c0001t0002g0130 a0001c0001t0003g0024 a0001c0001t0006g0134 a0001c0014t0003g0073 a0001c0030t0001g0089 a0007c0010t0001g0118 a0012c0012t0001g0021 a0012c0012t0002g0075 a0018c0041t0002g0127 a0025c0033t0002g0094 a0029c0024t0001g0071 a0030c0026t0002g0072 a0031c0029t0002g0088 a0032c0027t0001g0074 a0034c0031t0002g0093 a0035c0023t0001g0070	147	356	0.4129	-177	c.565 others(15): Show c.565-357_565-181del	GARIN5B	ENSG00000180043.11	transcript	ENST00000424985.3	protein_coding	3/10			chr19	TogoVar
GRP_chr18_59215158_59235771	59234277	GTATATAT others(170): Show GTATATATATAATATAACATATTATACATACCATGGTATATATATAATAT AACATATTATACATACCATGGTATATATATAATATAACATATTATACATA CCATGGTATATATATAATATAACATATTATACATACCATGGTATATATAT AATATAACATATTATACATACCATGGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG03041.hp1 HG03098.hp2 others(6): Show HG00609.hp1 HG03041.hp1 HG03098.hp2 HG03486.hp1 NA18954.hp1 NA18968.hp2 NA19087.hp2 NA19090.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0022 a0001c0001t0001g0146 a0001c0001t0001g0147 others(2): Show a0001c0001t0001g0022 a0001c0001t0001g0146 a0001c0001t0001g0147 a0002c0002t0001g0014 a0002c0002t0001g0036	9	408	0.0221	-177	c.38 others(11): Show c.3810_*3986del	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding		3507		chr18	TogoVar
H1-7_chr12_48323980_48335279	48332970	ACCCCCCC others(170): Show ACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAC GGCACGGCTGGCCAGGCGGGGGGCTGAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG03041.hp1 HG02258.hp1 HG03041.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	2	424	0.0047	-177	c.29 others(11): Show c.2912_*3088del	H1-7	ENSG00000187166.1	transcript	ENST00000335017.1	protein_coding		2692		chr12	TogoVar
H4C11_chr6_27819092_27829480	27827259	ACCCTCAC others(170): Show ACCCTCACCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGGCTGATCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00642.hp1 HG00733.hp1 others(8): Show HG00099.hp2 HG00642.hp1 HG00733.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01123.hp2 HG01993.hp1 NA18612.hp1 NA18939.hp1 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	11	396	0.0278	-177	c.28 others(11): Show c.2824_*3000del	H4C11	ENSG00000197238.5	transcript	ENST00000355057.3	protein_coding		2780		chr6	TogoVar
H4C12_chr6_27826174_27836560	27827259	ACCCTCAC others(170): Show ACCCTCACCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGGCTGATCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00642.hp2 HG00733.hp1 others(9): Show HG00099.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01123.hp1 HG01993.hp2 NA18612.hp1 NA18939.hp1 NA18959.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	12	419	0.0286	-177	c.37 others(11): Show c.3780_*3956del	H4C12	ENSG00000273542.2	transcript	ENST00000611927.2	protein_coding		3914		chr6	TogoVar
HTR1E_chr6_86932528_87021679	87010164	GGGGCGGC others(170): Show GGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGATG GGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCTCAGTAGGGGCGGCCG GGCAGAGGTGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG GCTGACCCCCCCCACCTCCCTCCCGGAC	G G	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	300	0.0033	-177	c.-18 others(19): Show c.-185-4982_-185-4806del	HTR1E	ENSG00000168830.8	transcript	ENST00000305344.7	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr6	TogoVar
HTR1E_chr6_86932528_87021679	87010181	GGGGGGCC others(170): Show GGGGGGCCGACCCCCCCACCTCCCTCCCGGATGGGGTGGCTGGCCGGGCT GAGGGGCTCCTCACTTCTCAGTAGGGGCGGCCGGGCAGAGGTGCCCCTCA CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGC	G G	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	300	0.0033	-177	c.-18 others(19): Show c.-185-4963_-185-4787del	HTR1E	ENSG00000168830.8	transcript	ENST00000305344.7	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr6	TogoVar
IL11_chr19_55359382_55375463	55361614	TCCCTCCT others(170): Show TCCCTCCTCCCTCAGACCCAGGAGTCCAGGGCCCCAGCCTCTCCTCCCTT GACTCAGGGGTCCAGGCCTCAGTTCCTCCTCCCTCAGACCCAGGAGTCCC CAGCCCCTCCTCCCTCAGACCCAGGAGTTCAGACTGCCAGCCCTCCACCC TCAGACCCAGGAGTCCAGACCCCACAGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00423.hp1 others(145): Show HG00099.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02293.hp1 HG02523.hp1 HG02523.hp2 HG02622.hp1 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG03239.hp1 HG03492.hp1 HG03492.hp2 HG03669.hp2 HG03831.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18960.hp2 NA18962.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18980.hp1 NA18980.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19004.hp2 NA19007.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19083.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0008 a0002c0003 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0016 a0001c0002t0001 a0001c0002t0011 a0001c0002t0024 a0001c0004t0001 a0001c0006t0001 a0001c0008t0001 a0002c0003t0001 a0003c0005t0001	a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0056 others(35): Show a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0005g0007 a0001c0001t0007g0011 a0001c0001t0016g0103 a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0008 a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0001g0024 a0001c0002t0001g0034 a0001c0002t0001g0041 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0046 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0098 a0001c0002t0001g0104 a0001c0002t0011g0048 a0001c0002t0011g0050 a0001c0002t0024g0045 a0001c0004t0001g0021 a0001c0006t0001g0052 a0001c0008t0001g0078 a0002c0003t0001g0040 a0002c0003t0001g0042 a0003c0005t0001g0047	148	352	0.4205	-177	c.42 others(11): Show c.4216_*4392del	IL11	ENSG00000095752.7	transcript	ENST00000264563.7	protein_coding		2767		chr19	TogoVar
JAKMIP3_chr10_132060946_132189858	132159756	TCCTGTGT others(170): Show TCCTGTGTGATACTGGGGGGTCTCTTCCTGTGTGATGCTGGGGGGCCTCT CGCTGTGTGATGCTGGGGGGCCTCTCCCTGTGTGATGCTGGGGGGCCTCT CCCTGTGTGATGCTGGGGGGGTCTCTTCCTGTGTGATGCTGGGGGGTCTC TTCCTGTGTGATGCTGGGGGGGGGTCTC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0141 a0002c0004t0004g0141	1	158	0.0063	-177	c.222 others(19): Show c.2221-3442_2221-3266del	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar

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Search Results (Total: 10000 hits)