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
UNC93A_chr6_167286315_167321014	167295379	GGCCTCCC others(174): Show GGCCTCCCTCGTGCTCCTCGCCTCCCTCGTGCTCCTCGCCTCCCTCGTGA TCCTCGGCCTCCCTCGTGCTCCTCGCCTCCCTCGTGCTCCTCGCCTCCCT CGTGAACCTCGCCTCCCTCGTGATCCTCGCCTGCCTCGTGCTCCTCGCCT GCCTCGTGCTCCTCGCCTCCCTCGTGCTCCTC	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp2 HG02622.hp1 others(4): Show HG02055.hp1 HG02451.hp2 HG02622.hp1 HG02647.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1	a0001 a0012 a0027 a0001 a0012 a0027	a0001c0001 a0012c0017 a0027c0041 a0001c0001 a0012c0017 a0027c0041	a0001c0001t0001 a0001c0001t0004 a0012c0017t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0012c0017t0001 a0027c0041t0004	a0001c0001t0001g0227 a0001c0001t0004g0361 a0001c0001t0004g0362 others(3): Show a0001c0001t0001g0227 a0001c0001t0004g0361 a0001c0001t0004g0362 a0012c0017t0001g0054 a0012c0017t0001g0364 a0027c0041t0004g0363	7	448	0.0156	-181	c.270 others(15): Show c.270-640_270-460del	UNC93A	ENSG00000112494.10	transcript	ENST00000230256.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
USP47_chr11_11836972_11966887	11855897	TGGAAGAG others(174): Show TGGAAGAGACAAACAGGTGACCAGACAAATATATAATGTGGAAATAAAGT GGGACCATAGAGCGGGGAGCAGCTGGCTTTCTCTAGGGGATTCTGTGAGA ATGTAATCACAAAGGCTGACTTGATTATTATGTAGAGAAGGAGGAATAGT GTTCAAAACAAGAAAGTTTGTAGTGCATTTTA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0165 a0001c0002t0003g0165	1	386	0.0026	-181	c.39+ others(17): Show c.39+13679_39+13859del	USP47	ENSG00000170242.19	transcript	ENST00000527733.7	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
ZEB2_chr2_144379081_144525119	144497860	TATATATA others(174): Show TATATATATATGTCATTCTCAACATATATATATATGTCATTCTCAACATA TATATTATATATTATATAATATATATTAATATTATATATTATATAATATA TATTAATATTATATATTATATAATATATTAATATTATATATTATATAATA TATTAATATTATATATTATATAATATATATTA	T T	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	248	0.0040	-181	c.73+ others(17): Show c.73+19237_73+19417del	ZEB2	ENSG00000169554.23	transcript	ENST00000627532.3	protein_coding	2/9			chr2	TogoVar
ZNF512B_chr20_63951704_63974930	63965937	TGACCTGG others(174): Show TGACCTGGGACGAGCCCCCATACCTTTTCTCACCACTGTTCCTCCCCGAC CTGGGACGAGCCCCCATACCTTTTCTCACCACTGTTCCCCGACCTGGGAC GAGCCCCCATACCTTTTCTTACCACTGTTCCTCCCTGACCTGGGACGAGC CCCCATACCTTTTCTTACCACTGTTCCTCCCC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02622.hp2 HG02717.hp2 others(7): Show HG02257.hp2 HG02622.hp2 HG02717.hp2 HG02976.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp2 NA19043.hp1 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0002 a0001c0002t0014 a0001c0005t0002 a0001c0002t0002 a0001c0002t0014 a0001c0005t0002	a0001c0002t0002g0023 a0001c0002t0014g0048 a0001c0005t0002g0045 others(3): Show a0001c0002t0002g0023 a0001c0002t0014g0048 a0001c0005t0002g0045 a0001c0005t0002g0046 a0001c0005t0002g0160 a0001c0005t0002g0161	10	356	0.0281	-181	c.103 others(16): Show c.1034+23_1034+203del	ZNF512B	ENSG00000196700.9	transcript	ENST00000369888.6	protein_coding	5/16			chr20	TogoVar
ZNF516_chr18_76352682_76500242	76393804	TCAGGTGG others(174): Show TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAG GTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCA GGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTG GGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGG	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0028 a0001c0006t0028	a0001c0006t0028g0292 a0001c0006t0028g0292	1	346	0.0029	-181	c.181 others(21): Show c.1811-13682_1811-13502del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
AARSD1_chr17_42945526_42969454	42967175	TATATAAT others(173): Show TATATAATATAATATATAAAATATATATTATATAATATATAATATAATAT ATAAAATATATATTATATAATATATAATATAATATATAAAATATATATTA TATAATATATAATATAATATATAAAATATATATTATATAATATATAATAT AATATATAAAATATATATTATATAATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	324	0.0031	-180	c.-29 others(11): Show c.-2915_-2736del	AARSD1	ENSG00000266967.7	transcript	ENST00000427569.7	protein_coding		2722		chr17	TogoVar
ABCG1_chr21_42214140_42302244	42283899	CCCCCGCC others(173): Show CCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAG TTGCGAAGTCCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCC CGCCTGGACAGTTGCGAAGTCCCCCCCGCCCAGATGAGTGGGGACCCCCC CACCTCTGTCCCGCCTGGACAGTTGCAAAGT	C C	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0044 a0001c0003t0006g0044	1	354	0.0028	-180	c.735 others(15): Show c.735-656_735-477del	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ACAP3_chr1_1287391_1312930	1289509	CCCCGTGT others(173): Show CCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCCCGAGTCTCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	295	0.0034	-180	c.38 others(11): Show c.3875_*4054del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2881		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1297141	AGTGGCAC others(173): Show AGTGGCACGTGTGTGTGTGCACAGGCGCGGGGCAGGGGCCATCCCCAGTG GCACGTGTGTGTGTGCACAGGCGCGGGGCAGGGGCCATCCCCGGTGGCAC ATGTGTGCACGGGCTTGGGGCAGGGGCCATCCCCGGTGGCACGTGTGTGT GTGCACAGGCGCGGGGCAGGGGCCATCCCCG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02717.hp2 HG03098.hp1 others(4): Show HG02258.hp1 HG02717.hp2 HG03098.hp1 HG03098.hp2 HG03209.hp2 NA18522.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0001t0009 a0001c0013t0001 a0001c0001t0001 a0001c0001t0009 a0001c0013t0001	a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0102 others(4): Show a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0009g0075 a0001c0013t0001g0047	7	295	0.0237	-180	c.112 others(17): Show c.1128+501_1129-509del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding	14/23			chr1	TogoVar
ADAMTS19_chr5_129455298_129743683	129578103	CATATGCA others(173): Show CATATGCATGTATATGTACGTATACGTACATATACCTATATGCATGTATA TGTACGTATACGTACATATACCTATATGCATGTATATGTACGTATACGTA CATATACCTATATGCATGTATATGTACGTATACGTACATATACCTATATG CATGTATATGTACGTATACGTACATATACCT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02976.hp1 HG02630.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0045 a0001c0001t0001g0020 a0001c0001t0001g0045	2	226	0.0089	-180	c.137 others(21): Show c.1373-18297_1373-18118del	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAP1_chr7_892900_959680	933949	ACCGGGGT others(173): Show ACCGGGGTCAGTGGTGCTGGAGAGCCGGGGGCCGGGGTCAGTGGTGCTGG AGAGCCGGGGGCCGGGGTCAGTGGTGGTGCAGAGCCGGGGACCGGGGTCA GTGGTGCTGGAGAGCCGGGGACTGGGGTCAGTGGTGCTGGAGAGCCGGGA GCCGGGGTCAGTGGTGCTGGAGAGCCGGGGG	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	14	0.0714	-180	c.213 others(17): Show c.213+1246_213+1425del	ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	2/10			chr7	TogoVar
ADARB2_chr10_1172313_1742525	1326897	CCAGCGCC others(173): Show CCAGCGCCTCCCCACTGCCCAGCGCCTCCCCACTGCCCAGCGCCTCCCCA CGGCACAGCGCCTCCCCACGGCCCAGCGCCTCCCCACGGCCCAGCGCCTC CCCACTGCCCAGCGCCTCCCCACGGCACAGCGCCTCCCCACTGCCCAGCG CCTCCCCACTGCCCAGCGCCTCCCCACTGCA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0038 a0002c0002t0038	a0002c0002t0038g0048 a0002c0002t0038g0048	1	106	0.0094	-180	c.107 others(21): Show c.1077+35951_1077+36130del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9			chr10	TogoVar
ADGRD1_chr12_130948907_131146469	131067604	ATATGTCT others(173): Show ATATGTCTGATCGCTGTGCCCCTGATCCTTCTTCTGAGCAGGGGCTGCCC TCTGCCTCCTATATGTCTGATCGCTGTGCCCCTGATCCTTCTTCTGAGCA GGGGCTGCCCTCTGCCTCCTGTATTTCTGATCGCTGTGCCCCTGATCCTT CTTCTGAGCAGGGGCTGCCCTCTACCTTCTG	A A	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0004 a0001c0004t0002g0004	1	242	0.0041	-180	c.147 others(19): Show c.1474-9137_1474-8958del	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
AFF3_chr2_99540419_100147590	100037413	TTTATTTA others(173): Show TTTATTTATATATAAATATATATTTATATTTTATATATTATTTATATATA AATATATATTTATATTTTATATATTATTTATATATAAATATATATTTATA TTTTATATATTATTTATATATAAATATATATTTATATTTTATATATTATT TATATATAAATATATATTTATATTTTATATA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp2 HG02559.hp1 others(10): Show HG02055.hp2 HG02258.hp2 HG02559.hp1 HG02809.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03471.hp1 NA19043.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0008 a0002c0007 a0001c0004 a0001c0008 a0002c0007	a0001c0004t0004 a0001c0004t0005 a0001c0004t0007 others(6): Show a0001c0004t0004 a0001c0004t0005 a0001c0004t0007 a0001c0004t0014 a0001c0004t0029 a0001c0008t0005 a0002c0007t0001 a0002c0007t0006 a0002c0007t0008	a0001c0004t0004g0097 a0001c0004t0005g0094 a0001c0004t0007g0093 others(10): Show a0001c0004t0004g0097 a0001c0004t0005g0094 a0001c0004t0007g0093 a0001c0004t0007g0095 a0001c0004t0007g0096 a0001c0004t0014g0004 a0001c0004t0029g0098 a0001c0008t0005g0079 a0001c0008t0005g0091 a0002c0007t0001g0060 a0002c0007t0006g0081 a0002c0007t0008g0006 a0002c0007t0008g0007	13	100	0.1300	-180	c.54- others(17): Show c.54-28661_54-28482del	AFF3	ENSG00000144218.21	transcript	ENST00000672756.2	protein_coding	4/24			chr2	TogoVar
AGBL1_chr15_86074871_86921156	86827309	ATATATAT others(173): Show ATATATATACACACACATATATATATATATGTGTATATATATATATATAT ATATGTGTGTGTATATATATATATACACATATATATATACATATATATAT GTGTATATATATATATATATACACATATATATATGTGTGTGTATATATAT ATATATATATACATATATATATATATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0060 a0002c0005t0060	a0002c0005t0060g0015 a0002c0005t0060g0015	1	132	0.0076	-180	c.315 others(21): Show c.3159-79769_3159-79590del	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGO2_chr8_140515156_140640633	140623104	GGGGTCTC others(173): Show GGGGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCTCTTGGGGGAA TAATCCACATGGGGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCT CTTGGGGTAATAATCCACATGGGGTCTCCTCTTGGGGGAATAATGCACAT GGGGTCTCCTCTTGGGGGAATAATGCACATA	G G	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02965.hp1 NA18906.hp2 HG01981.hp2 HG02965.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0085 a0001c0003t0006 a0001c0003t0019 a0001c0001t0085 a0001c0003t0006 a0001c0003t0019	a0001c0001t0085g0185 a0001c0003t0006g0292 a0001c0003t0019g0064 a0001c0001t0085g0185 a0001c0003t0006g0292 a0001c0003t0019g0064	3	338	0.0089	-180	c.22+ others(17): Show c.22+12201_22+12380del	AGO2	ENSG00000123908.12	transcript	ENST00000220592.10	protein_coding	1/18			chr8	TogoVar
AK3_chr9_4704556_4746202	4735228	TATATATA others(173): Show TATATATATACATATATAAATATATATATATATAAATATATATATAAATA TATATACATATATAAATATATATATACATATATAAATATATATATACATA TATAAATATATATATACATATATAAATATATATATACATATATAAATATA TATACATATATAAATATATATACATATATAA	T T	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0210 a0001c0001t0009g0210	1	462	0.0022	-180	c.151 others(17): Show c.151+5529_151+5708del	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	1/4			chr9	TogoVar
AK8_chr9_132720578_132883284	132821769	GTATATGT others(173): Show GTATATGTGTATGTATATACAAATATATACATATATGTGTATGTATATAC AAATATATACATATATGTGTATGTATATACAAATATATACATATATGTGT ATGTATATACAAATATATACATATATGTGTATGTATATACAAATATATAC ATATATGTGTATGTATATACAAATATATACA	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02486.hp1 NA18522.hp2 HG01192.hp2 HG02486.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0159 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0159	3	266	0.0113	-180	c.889 others(17): Show c.889+1256_889+1435del	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	9/12			chr9	TogoVar
AKAP6_chr14_32324298_32842684	32454724	CTTCCCTC others(173): Show CTTCCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCTTCCC TCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCTTC CCTCCTTCTCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCC TCCCTCCTTCCCTCCCTCCTTCCCTCCTTCT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp2 HG02257.hp1 others(5): Show HG01891.hp1 HG02109.hp2 HG02257.hp1 HG02280.hp2 HG02809.hp1 HG02809.hp2 HG02922.hp2 NA19043.hp1	a0001 a0006 a0007 others(4): Show a0001 a0006 a0007 a0010 a0013 a0024 a0027	a0001c0001 a0001c0006 a0006c0008 others(5): Show a0001c0001 a0001c0006 a0006c0008 a0007c0053 a0010c0047 a0013c0054 a0024c0042 a0027c0030	a0001c0001t0017 a0001c0006t0017 a0006c0008t0012 others(5): Show a0001c0001t0017 a0001c0006t0017 a0006c0008t0012 a0007c0053t0019 a0010c0047t0003 a0013c0054t0006 a0024c0042t0015 a0027c0030t0001	a0001c0001t0017g0112 a0001c0006t0017g0079 a0006c0008t0012g0041 others(5): Show a0001c0001t0017g0112 a0001c0006t0017g0079 a0006c0008t0012g0041 a0007c0053t0019g0071 a0010c0047t0003g0031 a0013c0054t0006g0106 a0024c0042t0015g0151 a0027c0030t0001g0154	8	154	0.0520	-180	c.324 others(19): Show c.324+20908_324+21087del	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	2/13			chr14	TogoVar
ANAPC10_chr4_144989576_145103196	145038830	AAAAAAAA others(173): Show AAAAAAAAAAAAAAAAAAAAGGCTAACTAAGGCAAAACCTATAAGAAGCA GGCAACAAATTCAACAGATACTTCTGATGACGAGACATCACTTTCTACAG AGAAAAATAGGTCACATGCAAAGCATCAGAAATCAAAAGTGGCATTGTAT TTCTCAACATTTACAATAAAAACAATGTCTC	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0009 a0001c0001t0006g0009	1	336	0.0030	-180	c.327 others(19): Show c.327+25562_327+25741del	ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4			chr4	TogoVar
ANO1_chr11_70073317_70194530	70194344	ATGGATGG others(173): Show ATGGATGGATGGATGGATGGATGGATGGATGGATTGGGTGAATGAATGGA TGTGTGGATGGATGGATGGATTGGGTGAATGAATGGATGTGTGGATGGAT GGATGGATGGATGGTGGATGAATGGATGGATGGTAGATGAATGGATGGAT GGATGGATGAATGGATGGATGGATGGATGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG02258.hp1 HG02615.hp2 others(5): Show HG01433.hp2 HG02258.hp1 HG02615.hp2 HG03098.hp2 HG03471.hp2 HG03654.hp1 NA18955.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0001c0017	a0001c0001t0004 a0001c0002t0001 a0001c0008t0004 others(3): Show a0001c0001t0004 a0001c0002t0001 a0001c0008t0004 a0001c0008t0012 a0001c0008t0020 a0001c0017t0004	a0001c0001t0004g0083 a0001c0002t0001g0138 a0001c0008t0004g0266 others(5): Show a0001c0001t0004g0083 a0001c0002t0001g0138 a0001c0008t0004g0266 a0001c0008t0012g0282 a0001c0008t0012g0286 a0001c0008t0020g0284 a0001c0017t0004g0127 a0001c0017t0004g0166	8	302	0.0265	-180	c.63 others(11): Show c.6341_*6520del	ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding		4815		chr11	TogoVar
APOB_chr2_20996429_21049073	21000846	GTAATTAT others(173): Show GTAATTATAAAATATGTAATTATAAACATTTTAATTATAAAATATGTAAT TATAAACATTTTAATTATAAAATATGTAATTATAAACATTTTAATTATAA AATATGTAATTATAAACATTTTAATTATAAAATATGTAATTATAAACATT TTAATTATAAAATATTTAATTATAAACATTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG03041.hp1 HG03486.hp2 HG02055.hp2 HG03041.hp1 HG03486.hp2	a0061 a0069 a0077 a0061 a0069 a0077	a0061c0099 a0069c0052 a0077c0046 a0061c0099 a0069c0052 a0077c0046	a0061c0099t0002 a0069c0052t0002 a0077c0046t0002 a0061c0099t0002 a0069c0052t0002 a0077c0046t0002	a0061c0099t0002g0234 a0069c0052t0002g0077 a0077c0046t0002g0066 a0061c0099t0002g0234 a0069c0052t0002g0077 a0077c0046t0002g0066	3	350	0.0086	-180	c.70 others(9): Show c.704_*883del	APOB	ENSG00000084674.15	transcript	ENST00000233242.5	protein_coding		582		chr2	TogoVar
ARHGEF16_chr1_3449665_3486113	3475052	AGCGCTGA others(173): Show AGCGCTGACAGGGAAACTGAGGCCCAGAGGTTCCCAGATTATCCATCCCA GGCCTTTCACGGCGCTGACAGGGAAACTGAGGCCCAGAGGTTCCCAGATT ATCCATCCCAGGCCTTTCACGGCGCTGACAGGGAAACTGAGGCCCAGAGG TTCCCAGATTATCCATCCCAGGCCTTTCACG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	334	0.0030	-180	c.138 others(17): Show c.1380+450_1381-559del	ARHGEF16	ENSG00000130762.15	transcript	ENST00000378378.9	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATP11A_chr13_112685038_112892168	112844904	AGTCCAGT others(173): Show AGTCCAGTTACTGGGCACTAGCCATACTAACCAGTCCAGTTGCCGGGCAC TAGCAGTACTAGTCCAAGTGCCAGGTATCAGTGGTACTAATCAGTCCAGT TGCCAGCCGCTAGCAGTACTAGTCCAGTTACCGGGCACTAGCCATACTAA CCAGTCCAGTTACTGGGCACTGGTGGTACAG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp2 HG03453.hp1 others(1): Show HG01891.hp2 HG02055.hp2 HG03453.hp1 NA18522.hp1	a0001 a0001	a0001c0016 a0001c0017 a0001c0016 a0001c0017	a0001c0016t0004 a0001c0017t0058 a0001c0017t0076 a0001c0016t0004 a0001c0017t0058 a0001c0017t0076	a0001c0016t0004g0214 a0001c0016t0004g0215 a0001c0017t0058g0053 others(1): Show a0001c0016t0004g0214 a0001c0016t0004g0215 a0001c0017t0058g0053 a0001c0017t0076g0154	4	254	0.0158	-180	c.180 others(19): Show c.1809+2526_1809+2705del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	17/29			chr13	TogoVar
ATP9B_chr18_79064394_79383283	79308929	AGGAGTGA others(173): Show AGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCA GCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCCCCAGCAGGTAGAAGGTC AGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTGGTGGAGT GATCCCCAGCAGGTAGAAGGTCAGGGGTGGT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0004 a0003c0007t0004	a0003c0007t0004g0282 a0003c0007t0004g0282	1	298	0.0034	-180	c.177 others(19): Show c.1773+1764_1773+1943del	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79309430	TGGAGGAG others(173): Show TGGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTTGAGGAGTGATCC CCAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCTCCAGCAGGTAGAAG GTCAGGGGTGGTGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGG AGTGATCCCCAGCAGGTAGAAGGTCAGGGGC	T T	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0290 a0001c0006t0007g0290	1	298	0.0034	-180	c.177 others(19): Show c.1773+2197_1773+2376del	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29			chr18	TogoVar
ATP9B_chr18_79064394_79383283	79309431	GGAGGAGT others(173): Show GGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTTGAGGAGTGATCCC CAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCTCCAGCAGGTAGAAGG TCAGGGGTGGTGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGA GTGATCCCCAGCAGGTAGAAGGTCAGGGGCT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03540.hp2 HG02109.hp1 HG03540.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0285 a0001c0006t0007g0286 a0001c0006t0007g0285 a0001c0006t0007g0286	2	298	0.0067	-180	c.177 others(19): Show c.1773+2232_1773+2411del	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
BCL11A_chr2_60452194_60558654	60467908	GGTGGTGG others(173): Show GGTGGTGGTGGTGGTGGTGGTAGTGATGGTGGTGGTGGTGATGGTACTGG TGGTGATGGTGGTGGTGGTAGTGATGGTGGTGGTAATGGTGGTGGTGGTG ATGGTGGTGGTGGTGGTAGTGGTGGTGATGGTGGTGATGGTACTGGTGGT GATGGTGGTGGTGGTAGTGATGGTGGTGGTT	G G	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0227 a0001c0001t0005g0227	1	262	0.0038	-180	c.487 others(15): Show c.487+644_487+823del	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BMP7_chr20_57163753_57271641	57185848	GCAGAGCT others(173): Show GCAGAGCTTTGCATACCCTAAGTACTCAATAAATGCTAGCTCAGGGCAGA GCTTTGCATACCCTAAGTGCTCAATAAATGCTAGCTCAGGGCAGAGCTTT GCATACCCTAAGTGCTCAATAAATGCTAGCTCAGGGCAGAGCTTTGCATA CCCTAAGTACTCAATAAATGCTAGCTCAGGA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0251 a0001c0001t0006g0251	1	272	0.0037	-180	c.761 others(17): Show c.761-2109_761-1930del	BMP7	ENSG00000101144.13	transcript	ENST00000395863.8	protein_coding	3/6			chr20	TogoVar
BOP1_chr8_144257045_144296438	144281114	TCTCAGTT others(173): Show TCTCAGTTTAATACCAGGTCTTAGGCCTTCTCTCAGTTTAATACCAGGTC TTCGGCCTTCCCTCACTTTCATACCAGGTCTTTGGCCTTCTCTCAGTTTA ATACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTC CCTCAGTTTAATACCAGGTCTTCGGCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02523.hp1 HG02735.hp2 others(3): Show HG00408.hp2 HG02523.hp1 HG02735.hp2 HG03710.hp2 NA18952.hp1 NA19012.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0004c0007t0001 a0001c0001t0001 a0004c0007t0001	a0001c0001t0001g0063 a0001c0001t0001g0087 a0001c0001t0001g0088 others(3): Show a0001c0001t0001g0063 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0102 a0001c0001t0001g0353 a0004c0007t0001g0064	6	398	0.0151	-180	c.310 others(17): Show c.310-4990_310-4811del	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281183	CATACCAG others(173): Show CATACCAGGTCTTTGGCCTTCTCTCAGTTTAATACCAGGTCTTCGGCCTT CCCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGT CTTCGGCCTTCCCTCACTTTCATACCAGGTCTTTGGCCTTCTCTCAGTTT AATACCAGGTCTTCGGCCTTCCCTCAGTTTA	C C	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG04199.hp2 HG01943.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0282 a0001c0003t0001g0164 a0001c0001t0001g0282 a0001c0003t0001g0164	2	398	0.0050	-180	c.310 others(17): Show c.310-5059_310-4880del	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281324	TCTCAGTT others(173): Show TCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGTC TTCGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTCTCTCACTTTC ATACCAGGTCTTTGGCCTTCTCTCAGTTTAATACCAGGTCTTCGGCCTTC TCTCACTTTCATACCAGGTCTTTGGCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02257.hp2 HG02300.hp2 others(4): Show HG01891.hp1 HG02257.hp2 HG02300.hp2 HG02886.hp2 HG02965.hp1 NA18522.hp2 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0008 a0001c0002 a0001c0006 a0001c0008	a0001c0002t0001 a0001c0006t0001 a0001c0008t0001 a0001c0002t0001 a0001c0006t0001 a0001c0008t0001	a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0374 others(4): Show a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0374 a0001c0006t0001g0165 a0001c0008t0001g0372 a0001c0008t0001g0373 a0001c0008t0001g0375	7	398	0.0176	-180	c.310 others(17): Show c.310-5200_310-5021del	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281393	AATACCAG others(173): Show AATACCAGGTCTTCGGCCTTCTCTCACTTTCATACCAGGTCTTTGGCCTT CTCTCAGTTTAATACCAGGTCTTCGGCCTTCTCTCACTTTCATACCAGGT CTTTGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCAGTTT AATACCAGGTCTTCGGCCTTCCCTCACTTTC	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02155.hp1 HG03239.hp2 others(2): Show HG01496.hp1 HG02155.hp1 HG03239.hp2 NA19054.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0103 a0001c0001t0001g0108 others(2): Show a0001c0001t0001g0067 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0149	5	398	0.0126	-180	c.310 others(17): Show c.310-5269_310-5090del	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
C1orf159_chr1_1076823_1121089	1077301	CGGGAGGC others(173): Show CGGGAGGCTGAGTCTATGGGGACTCTGTGCCGGGAGGCTGAGGCTACGGG GACTCCGTGCCGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTG AGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGG GGGGAGGCTGAGGCTATGGGGACTCCGTGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	326	0.0031	-180	c.54 others(11): Show c.5412_*5591del	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		4521		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1077509	GGGGGGAG others(173): Show GGGGGGAGGCTGAGTCTATGGGGACTCCGTGCCGAGAGGCTGAGTCTATG GGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGC TGAGTCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGT TGGGGGAGGCTGAGGCTATGGGGACTCCGTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	326	0.0031	-180	c.52 others(11): Show c.5204_*5383del	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		4313		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1079105	AGGCTGAG others(173): Show AGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACT CCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGC TATGGGGACTCCGTGGGGGGTGGCTGAGGCTATGGGGACTCCGTGGGGGG AGGCTGAGGCTATGGGGACTCCGTGGGGGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG03041.hp2 NA21309.hp1 HG02922.hp1 HG03041.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236	3	326	0.0092	-180	c.36 others(11): Show c.3608_*3787del	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		2717		chr1	TogoVar
CACNA1B_chr9_137872782_138129619	138126644	CCCCCGGC others(173): Show CCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGG GCCCTGCAGTGCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGT GAGCAAGAGGGCCCTGCAGTGCCCCGGCCGCCAGCAGGGGGCGCAAGGCC ATGACACCGTGAGCAAGAGGGCACTGCAGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0221 a0002c0001t0001g0221	1	248	0.0040	-180	c.46 others(11): Show c.4646_*4825del	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding		2026		chr9	TogoVar
CASP3_chr4_184622696_184654447	184624494	CTGACCTG others(173): Show CTGACCTGTTTCTGACCACAGCCTCCATCACTGACCTGTTTCTGACCACA GCCTCCATCACTGACCTGTTTCTGTCCACAGCCTCCATCACTGACCTGTT TCTGACCACAGCCTCCATCACTGACCTGTTTCTGACCACAGCCTCCATCA CTGACCTGTTTCTGACCACAGCCTCCATCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02886.hp1 HG03471.hp2 HG02055.hp2 HG02886.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0016 a0001c0001t0004g0016	3	366	0.0082	-180	c.45 others(11): Show c.4598_*4777del	CASP3	ENSG00000164305.20	transcript	ENST00000308394.9	protein_coding		3201		chr4	TogoVar
CBLC_chr19_44772890_44805652	44801194	CCCTCAGA others(173): Show CCCTCAGACCCAGGAGTCCATACTGCAGCCCCTTCTCCCTCAGACCCAGG AGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCATACTGCAG CCCCTCCTCCCTCAGACCCAGGAGTCCATACTCCAGCCCCTCCTCCCTCA GACCCAGGAGTCCATACTGCAGCCCCTCCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01433.hp1 HG02698.hp1 others(1): Show HG00738.hp1 HG01433.hp1 HG02698.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0099 a0001c0001t0001g0291 a0001c0001t0001g0001 a0001c0001t0001g0099 a0001c0001t0001g0291	4	344	0.0116	-180	c.65 others(9): Show c.652_*831del	CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding		543		chr19	TogoVar
CCDC127_chr5_191868_223153	211375	GCTGATGC others(173): Show GCTGATGCTCGACATCGCACACTGCAGCCACAATGAGACAGCACCACACA CCCATCAGGATGGGGCAGACGGGACAGCAATGTGAGCACGCTGAGATGCT CGACATTGCACACTGCAGCCACGACGAGACAGCACCACACACCCATCAGG ATGGGGCAGACGGGACAGCAGTGTGAGCACA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp2 HG00733.hp2 others(42): Show HG00140.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp2 HG01123.hp1 HG01169.hp2 HG01346.hp1 HG01891.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02055.hp1 HG02132.hp2 HG02155.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp1 HG02735.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG03139.hp1 HG03209.hp1 HG03486.hp2 HG03669.hp2 NA18906.hp2 NA18965.hp1 NA18970.hp2 NA18983.hp2 NA18985.hp2 NA19012.hp2 NA19030.hp1 NA19081.hp1 NA19240.hp1 NA20300.hp1 NA21309.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0009 a0001c0001 a0001c0002 a0007c0009	a0001c0001t0090 a0001c0002t0014 a0001c0002t0015 others(34): Show a0001c0001t0090 a0001c0002t0014 a0001c0002t0015 a0001c0002t0042 a0001c0002t0043 a0001c0002t0044 a0001c0002t0045 a0001c0002t0046 a0001c0002t0203 a0001c0002t0205 a0001c0002t0206 a0001c0002t0207 a0001c0002t0208 a0001c0002t0209 a0001c0002t0210 a0001c0002t0211 a0001c0002t0212 a0001c0002t0213 a0001c0002t0214 a0001c0002t0215 a0001c0002t0216 a0001c0002t0217 a0001c0002t0218 a0001c0002t0219 a0001c0002t0220 a0001c0002t0221 a0001c0002t0222 a0001c0002t0223 a0001c0002t0224 a0001c0002t0225 a0001c0002t0226 a0001c0002t0227 a0001c0002t0228 a0001c0002t0229 a0001c0002t0230 a0001c0002t0231 a0007c0009t0204	a0001c0001t0090g0159 a0001c0002t0014g0266 a0001c0002t0014g0273 others(38): Show a0001c0001t0090g0159 a0001c0002t0014g0266 a0001c0002t0014g0273 a0001c0002t0015g0045 a0001c0002t0015g0292 a0001c0002t0042g0262 a0001c0002t0042g0275 a0001c0002t0043g0042 a0001c0002t0044g0044 a0001c0002t0045g0282 a0001c0002t0045g0285 a0001c0002t0046g0043 a0001c0002t0203g0263 a0001c0002t0205g0280 a0001c0002t0206g0272 a0001c0002t0207g0264 a0001c0002t0208g0279 a0001c0002t0209g0265 a0001c0002t0210g0259 a0001c0002t0211g0274 a0001c0002t0212g0260 a0001c0002t0213g0267 a0001c0002t0214g0261 a0001c0002t0215g0268 a0001c0002t0216g0287 a0001c0002t0217g0286 a0001c0002t0218g0269 a0001c0002t0219g0276 a0001c0002t0220g0277 a0001c0002t0221g0270 a0001c0002t0222g0281 a0001c0002t0223g0283 a0001c0002t0224g0256 a0001c0002t0225g0271 a0001c0002t0226g0284 a0001c0002t0227g0257 a0001c0002t0228g0288 a0001c0002t0229g0293 a0001c0002t0230g0290 a0001c0002t0231g0291 a0007c0009t0204g0278	45	406	0.1108	-180	c.121 others(17): Show c.121+5174_121+5353del	CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding	2/2			chr5	TogoVar
CDH4_chr20_61247261_61945617	61944084	TTCTCACC others(173): Show TTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC TTCTCACTGACGATGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAG CACTGCGACCGTCTGCCCCGTGGCCGCCCCTTCTCACTGACGATGAGGAG CATTGCGACTGTATGCACCGTGGCCGCCCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0054 a0001c0003t0005g0054	1	106	0.0094	-180	c.71 others(11): Show c.7142_*7321del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		3468		chr20	TogoVar
CDH5_chr16_66361691_66409784	66379883	ATGGTGGT others(173): Show ATGGTGGTGATCACGGTGATGGTGGTGATGATAAAGGGGTAGGTGTTGGT GGTGATCACGGTGATGGTGGTGATGATAAAGGGGTAGGTGTTGGTGGTGA TCACGGTGATGGTGGTGATGATAAAGGGGTAGGTGGTGGTGGTGATCATG GTGATGGTGGTGATGATAAAGGGGTAGGTGT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02723.hp1 HG02886.hp2 others(6): Show HG02486.hp1 HG02723.hp1 HG02886.hp2 HG02895.hp2 HG03225.hp2 HG03710.hp1 HG04184.hp2 NA18950.hp2 NA18999.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0010c0015 a0001c0001 a0001c0002 a0010c0015	a0001c0001t0001 a0001c0002t0001 a0001c0002t0022 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0022 a0001c0002t0024 a0010c0015t0001	a0001c0001t0001g0349 a0001c0002t0001g0067 a0001c0002t0001g0199 others(6): Show a0001c0001t0001g0349 a0001c0002t0001g0067 a0001c0002t0001g0199 a0001c0002t0001g0208 a0001c0002t0001g0256 a0001c0002t0001g0282 a0001c0002t0022g0121 a0001c0002t0024g0118 a0010c0015t0001g0119	9	404	0.0223	-180	c.210 others(15): Show c.210+381_210+560del	CDH5	ENSG00000179776.20	transcript	ENST00000341529.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH5_chr16_66361691_66409784	66379941	CGGTGATG others(173): Show CGGTGATGGTGGTGATGATAAAGGGGTAGGTGTTGGTGGTGATCACGGTG ATGGTGGTGATGATAAAGGGGTAGGTGGTGGTGGTGATCATGGTGATGGT GGTGATGATAAAGGGGTAGGTGTTGGTGGTGATCACGGTGATGGTGGTGA TGATAAAGGGGTAGGTGGTGGTGGTGATCAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp2 HG00609.hp2 others(73): Show HG00140.hp2 HG00544.hp2 HG00609.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG01070.hp2 HG01081.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01257.hp2 HG01258.hp2 HG01361.hp2 HG02040.hp1 HG02071.hp2 HG02074.hp1 HG02129.hp2 HG02145.hp2 HG02257.hp2 HG02273.hp2 HG02300.hp1 HG02615.hp2 HG02738.hp1 HG03471.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03927.hp2 HG04115.hp2 HG04199.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18941.hp2 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18960.hp1 NA18963.hp1 NA18964.hp2 NA18969.hp2 NA18971.hp2 NA18972.hp1 NA18975.hp2 NA18980.hp2 NA18981.hp1 NA18984.hp2 NA18997.hp2 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19003.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19057.hp1 NA19060.hp2 NA19063.hp2 NA19064.hp2 NA19068.hp2 NA19070.hp1 NA19080.hp1 NA19082.hp1 NA19086.hp1 NA19087.hp2 NA19091.hp1 NA20300.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0002c0013	a0001c0001t0001 a0001c0001t0009 a0001c0002t0001 others(9): Show a0001c0001t0001 a0001c0001t0009 a0001c0002t0001 a0001c0002t0004 a0001c0002t0007 a0001c0002t0010 a0001c0002t0013 a0001c0002t0017 a0001c0004t0001 a0001c0004t0005 a0002c0003t0002 a0002c0013t0002	a0001c0001t0001g0294 a0001c0001t0009g0024 a0001c0002t0001g0007 others(68): Show a0001c0001t0001g0294 a0001c0001t0009g0024 a0001c0002t0001g0007 a0001c0002t0001g0010 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0143 a0001c0002t0001g0152 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0159 a0001c0002t0001g0161 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0174 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0190 a0001c0002t0001g0192 a0001c0002t0001g0197 a0001c0002t0001g0213 a0001c0002t0001g0227 a0001c0002t0001g0247 a0001c0002t0001g0255 a0001c0002t0001g0259 a0001c0002t0001g0273 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0350 a0001c0002t0004g0013 a0001c0002t0004g0015 a0001c0002t0004g0171 a0001c0002t0007g0182 a0001c0002t0007g0183 a0001c0002t0007g0184 a0001c0002t0007g0189 a0001c0002t0010g0158 a0001c0002t0010g0160 a0001c0002t0013g0162 a0001c0002t0017g0265 a0001c0004t0001g0359 a0001c0004t0005g0200 a0002c0003t0002g0019 a0002c0003t0002g0141 a0002c0003t0002g0261 a0002c0003t0002g0274 a0002c0003t0002g0275 a0002c0003t0002g0276 a0002c0013t0002g0019	76	404	0.1881	-180	c.210 others(15): Show c.210+516_210+695del	CDH5	ENSG00000179776.20	transcript	ENST00000341529.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDK5RAP2_chr9_120383875_120585167	120496241	TGGGAGGT others(173): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGT CAGCCCCCCCGCCCAGCCAGCCGCCCTGTCC	T T	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	232	0.0043	-180	c.131 others(19): Show c.1312-4944_1312-4765del	CDK5RAP2	ENSG00000136861.19	transcript	ENST00000349780.9	protein_coding	12/37			chr9	TogoVar
CENPF_chr1_214598195_214669571	214622654	GGATCGTA others(173): Show GGATCGTATATATAGTTGGTCCATTGTACCCATGAGTTCTGCATTCATGG ATTCAACCAACTATGGATCGTAAGTATTTAGGGGGAAAAAAGATCGTATA TATAGTTGGTCCATTGTACCCATGAGTTCTGCATTCATGGATTCAACCAA CTATGGATCGTAAGTATTTAGGGGGAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01891.hp1 HG02109.hp2 others(13): Show HG01106.hp1 HG01891.hp1 HG02109.hp2 HG02280.hp1 HG02559.hp1 HG02615.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03579.hp2 NA18906.hp2	a0006 a0012 a0034 others(1): Show a0006 a0012 a0034 a0040	a0006c0007 a0006c0030 a0012c0014 others(2): Show a0006c0007 a0006c0030 a0012c0014 a0034c0054 a0040c0047	a0006c0007t0002 a0006c0030t0002 a0012c0014t0002 others(2): Show a0006c0007t0002 a0006c0030t0002 a0012c0014t0002 a0034c0054t0002 a0040c0047t0002	a0006c0007t0002g0036 a0006c0007t0002g0038 a0006c0007t0002g0040 others(13): Show a0006c0007t0002g0036 a0006c0007t0002g0038 a0006c0007t0002g0040 a0006c0007t0002g0041 a0006c0007t0002g0042 a0006c0007t0002g0043 a0006c0007t0002g0044 a0006c0007t0002g0045 a0006c0030t0002g0037 a0006c0030t0002g0039 a0012c0014t0002g0020 a0012c0014t0002g0021 a0012c0014t0002g0022 a0012c0014t0002g0023 a0034c0054t0002g0211 a0040c0047t0002g0034	16	282	0.0567	-180	c.106 others(17): Show c.1068+463_1068+642del	CENPF	ENSG00000117724.15	transcript	ENST00000366955.8	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
COL23A1_chr5_178232618_178595393	178448110	ACAGTCCG others(173): Show ACAGTCCGTTTTGTTCTGTTAGTGCTAGTCGCAGTCCGTTTTGTTCTGTT AGTGCTAGTCGCAGTCCGTTTTGTTCTGTTAGTGCTAGTCGCAGTCCGTT TTGTTCTGTTAGTGCTAGTCGCAGTCCGTTTTGTTCTGTTAGTGCTAGTC GCAGTCCGTTTTGTTCTGTTAGTGCTAGTCG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01361.hp1 HG01433.hp2 others(4): Show HG01261.hp2 HG01361.hp1 HG01433.hp2 NA18943.hp2 NA18950.hp2 NA19010.hp1 NA19060.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0003 a0005c0008 others(1): Show a0001c0001 a0002c0003 a0005c0008 a0005c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0002c0003t0001 a0005c0008t0002 a0005c0015t0002	a0001c0001t0001g0002 a0001c0001t0002g0048 a0001c0001t0004g0204 others(4): Show a0001c0001t0001g0002 a0001c0001t0002g0048 a0001c0001t0004g0204 a0001c0001t0005g0207 a0002c0003t0001g0004 a0005c0008t0002g0003 a0005c0015t0002g0017	7	236	0.0297	-180	c.361 others(21): Show c.361+112392_361+112571del	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178525019	CGGCTAAG others(173): Show CGGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGCGCGCAGACCC CAGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGC GCGCAGACCCCAGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATG GCGACACAGCGCGCAGACCCCGGGACCCGAA	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01928.hp1 HG02257.hp1 others(4): Show HG01346.hp1 HG01928.hp1 HG02257.hp1 HG02735.hp1 HG03490.hp1 HG03492.hp2 HG03654.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0003c0007	a0001c0001t0002 a0001c0001t0005 a0001c0004t0001 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0004t0001 a0002c0002t0001 a0003c0007t0001	a0001c0001t0002g0028 a0001c0001t0005g0107 a0001c0004t0001g0178 others(4): Show a0001c0001t0002g0028 a0001c0001t0005g0107 a0001c0004t0001g0178 a0001c0004t0001g0179 a0002c0002t0001g0001 a0002c0002t0001g0019 a0003c0007t0001g0030	7	236	0.0297	-180	c.361 others(19): Show c.361+35483_361+35662del	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL4A2_chr13_110302284_110518209	110480988	TTCCATTG others(173): Show TTCCATTGCTGGAGACACACTGTTCTGTCCTTCCGTTGCTGGAGACACAC AGTTCTGTCCCTCCATTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCT GGAGACACACTGTTCTGTCCTTCCGTTGCTGGAGACACACAGTTCTGTCC CTCCATTGCTGGAGACACACTGTTCTGTCCC	T T	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0003 a0003	a0003c0093 a0003c0093	a0003c0093t0010 a0003c0093t0010	a0003c0093t0010g0148 a0003c0093t0010g0148	1	372	0.0027	-180	c.275 others(17): Show c.2758+602_2758+781del	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481078	CTCCGTTG others(173): Show CTCCGTTGCTGGAGACACACTGTTCTGTCCTTCCGTTGCTGGAGACACAC AGTTCTGTCCCTCCATTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCT GGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACAGTTCTGTCC TTCCGTTGCTGGAGACACACTGTTCTGTCCT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0101 a0001c0101	a0001c0101t0019 a0001c0101t0019	a0001c0101t0019g0129 a0001c0101t0019g0129	1	372	0.0027	-180	c.275 others(17): Show c.2758+738_2758+917del	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481308	TGTTCTGT others(173): Show TGTTCTGTCCCTCCATTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCT GGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCC CTCCATTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACAC TGCTGTGTCCCTCCGTTGCTGGAGACACACA	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0019 a0001c0022t0019	a0001c0022t0019g0130 a0001c0022t0019g0130	1	372	0.0027	-180	c.275 others(18): Show c.2758+928_2759-1019del	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar

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Search Results (Total: 10000 hits)