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
WRAP73_chr1_3625770_3655103	3643577	AATGGGGT others(401): Show AATGGGGTCGCGCCTTCGGAAGGGGACCCAGCGGCCCCGCTGAGCCCCGG ACATGGGGTCGCGCCTTCGGAAGGGGACCCAGCGGCCCCGCTGAGCCCCG GACATGGGGTCGCGCCTTCGGAAGGGGACCCAGCGGCCCCGCTGAGCCCC GGACATGGGGTCGCGCCTTCGGAAGGGGACCCAGCGGCCCCGCTGAGCCC CGGACATGGGGTCGCGCCTTCGGAAGGGGACCCAGCGGCCCCGCTGAGCC CCGGACATGGGGTCGCGCCTTCGGAAGGGGACCCAGCGGCCCCGCTGAGC CCCGGACATGGGGTCGCGCCTTCGGAAGGGGACCCAGCGGCCCCGCTGAG CCCCGGACATGGGGTCGCGCCTTCGGAAGGGGACCCAGCGGCCCCGCTGA GCCCCGGAC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02451.hp1 HG02559.hp1 others(4): Show HG02145.hp1 HG02451.hp1 HG02559.hp1 HG03130.hp1 HG03195.hp2 HG03471.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0127 a0001c0001t0001g0128 others(2): Show a0001c0001t0001g0020 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130	7	382	0.0183	-408	c.339 others(17): Show c.339+2681_339+3088del	WRAP73	ENSG00000116213.16	transcript	ENST00000270708.12	protein_coding	3/11			chr1	TogoVar
ABR_chr17_998519_1184981	1117478	TCCCTGAG others(400): Show TCCCTGAGCCTGAGTCCTCCCCAGCGTTATCCCTGAGCCGGAGTTCCTCC CAGCATTATCCCTGAACCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGA GTTCCTCCCAGCATTATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCT GAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCAGCG TTATCCCTGAGCCCGAGTTCCTCCCCAGCGTTATCCCTGAGCCTGAGTTC TCCCCAGCGTTAACCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGC CTGAGTTCTCCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCAGCGTTATC CCTGAGCCTGAGTCCCTCCCAGCGTTATTGCCTGAGCCTGAGTCCCTCCC AGCGTTAA	T T	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0300 a0001c0001t0010g0300	1	337	0.0030	-407	c.246 others(17): Show c.246+7298_246+7704del	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ADARB2_chr10_1172313_1742525	1239525	CCCCTCTG others(400): Show CCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCC CCCCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCC TCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTC TGCCTCCCGGTGCTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTC CCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTCCC TCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTC CCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCC GGTGTTTACTCCCCTCTCCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGG TGTTCACT	C C	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0084 a0002c0002t0004g0084	1	106	0.0094	-407	c.136 others(19): Show c.1361+2199_1361+2605del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ASMT_chrX_1610059_1648081	1637196	GTCCATCC others(400): Show GTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGTGTGT GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGG TTCATGAGGATGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCA GTGTCCTGTGAGATCCATCCCTCCTGATGCTTCACGAGGACGTGGGCACA GCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCACCC ATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG GACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGA GGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTC CTGTGAGA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0090 a0001c0001t0003g0090	1	223	0.0045	-407	c.910 others(16): Show c.910+644_910+1050del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
C19orf12_chr19_29693937_29720261	29719369	ATATAATT others(400): Show ATATAATTATATATATATAATTTATATATATATAAATATATATATAAATT ATATATATATATAATATATATATTTATATATATAATATACATATTTATAT ATATATTATATATATTTATATATATATTATATTTATATATATTTATATAT ATTATATATATATTATATATATAATATATAAATATATTTATATAATATAA ATATATATATTTATATAATATAAATATATATATTTATATATATATAAAAT ATATATAATATATAAGTTTGGACAAAGATATAGAATTATATAATATATAA GTTTGGACAAAGATATAGAATTATATAATATATAATATAATATATCAGTA TATATAATTGTACTATTATATAATTATATATAATTATATATATTTATATA TATTAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG01884.hp2 HG02109.hp2 others(15): Show HG01361.hp2 HG01884.hp2 HG02109.hp2 HG02257.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02976.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03579.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 others(1): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012	a0001c0001t0006g0006 a0001c0001t0006g0031 a0001c0001t0006g0032 others(7): Show a0001c0001t0006g0006 a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0093 a0001c0001t0006g0094 a0001c0001t0006g0095 a0001c0001t0006g0100 a0001c0001t0007g0096 a0001c0001t0011g0101 a0001c0001t0012g0103	18	418	0.0431	-407	c.-46 others(11): Show c.-4662_-4256del	C19orf12	ENSG00000131943.20	transcript	ENST00000323670.14	protein_coding		4109		chr19	TogoVar
CACNA1B_chr9_137872782_138129619	138018008	TCAGGTGC others(400): Show TCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTA GGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCT GATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCC AGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGG CCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGA TGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAG GTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCC ACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATG GAAGTGGC	T T	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0057 a0002c0057	a0002c0057t0003 a0002c0057t0003	a0002c0057t0003g0246 a0002c0057t0003g0246	1	248	0.0040	-407	c.226 others(19): Show c.2268-3812_2268-3406del	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNG7_chr19_53904278_53948950	53921888	CATTGGTG others(400): Show CATTGGTGGAGTTGTCCCCAGGTCTGGTATTGGTGGAGTTGTCCCCAGGT CTGGTCATTGGTGGAGTTGCCCCAGGCCTGGTCATTGGTGGAGTTGCCCC AGGCCTGGTCATTGGTGGAGTTGTCCCCAGGTCTGGTCATTGGTGGAGTT GTCCCCAGGCCTGGTATTGGTGGAGTTGCCCCAGGTCTGGTATTGGTGGA GTTGTCCCCAGGCCTGGTCATTGGTGGAGTTGCCCCAGGCCTGGTCATTG GTGGAGTTGTCCCCAGGTCTGGTCATTGGTGGAGTTGTCCCAGGCTGGTC ATTGGTGGAGTTGCCCCAGGTCTGGTATTGGTGGAGTTGTCCCCAGGTCT GGTCATTGGTGGAGTTGTCCCCAGGTCTGGTCATTGGTGCAGTTGCCCCA GGTCTGGT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0281 a0001c0001t0019g0281	1	364	0.0028	-407	c.424 others(17): Show c.424+6411_424+6817del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CCDC183_chr9_136791338_136812741	136802779	AGGTCAAG others(400): Show AGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCC CTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGG GGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGC TCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCC AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC CGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0029 a0029	a0029c0013 a0029c0013	a0029c0013t0002 a0029c0013t0002	a0029c0013t0002g0122 a0029c0013t0002g0122	1	398	0.0025	-407	c.666 others(14): Show c.666+94_666+500del	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CDH5_chr16_66361691_66409784	66380029	CATGGTGA others(400): Show CATGGTGATGGTGGTGATGATAAAGGGGTAGGTGTTGGTGGTGATCACGG TGATGGTGGTGATGATAAAGGGGTAGGTGGTGGTGGTGATCATGGTGATG GTGGTGATGATAAAGGGGTAGGTGTTGGTGGTGATCACGGTGATGGTGGT GATGATAAAGGGGTAGGTGGTGGTGGTGATCATGGTGATGGTGGTGATGA TAAAGGGGTAGGTGGTGGTGGTGATCACGGTGATGGTGGTGATGATAAAG GGGTAGGTGGTGATTGTGATAATGGTGATGACAGTGATGATAAAGGGGTA GGTGGTGATTGTGATGGTGGGTGATGGTGGTGATGATAAAGGGGTAGGCG GTGGTCTGACGATGGTGATGATGGTGGTGCTGATAAAGGGTAGGTGGTCG TTGTGATG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02896.hp1 HG02897.hp2 others(4): Show HG02280.hp1 HG02896.hp1 HG02897.hp2 HG02976.hp2 HG03195.hp1 HG03209.hp1 NA18906.hp2	a0002 a0011 a0002 a0011	a0002c0003 a0011c0011 a0002c0003 a0011c0011	a0002c0003t0002 a0011c0011t0002 a0002c0003t0002 a0011c0011t0002	a0002c0003t0002g0026 a0002c0003t0002g0233 a0002c0003t0002g0234 others(3): Show a0002c0003t0002g0026 a0002c0003t0002g0233 a0002c0003t0002g0234 a0002c0003t0002g0357 a0002c0003t0002g0358 a0011c0011t0002g0356	7	404	0.0173	-407	c.210 others(15): Show c.210+492_210+898del	CDH5	ENSG00000179776.20	transcript	ENST00000341529.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
CRYBB2_chr22_25214639_25236869	25218195	CTTGCAGT others(400): Show CTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCATCTCAAAAAAAAAAAAAATAGAAAAGAAATGTGAGTAAAG GCTGGGCACCCATGTGGCAGCGATGGGGCCAGTGGTAGGGATCTAAGAGC AACTCACTCTAGGACAGTGGTTAAGAAACAGGCCGGGTGCAGTGGCTCAT GCCTGGAATCCCAGCACTTTAGGAGGCCAAGGTGGATGGATTGCCTGAGC TCAGGAGTTTGAGACCACCCTGGGCAACATGTCAAAACCCTGTCTCTAAC AAGATACAGCAAAAAAAAGAATTTAGCTGGACCTGGTGGCGCACACCTGT AGTCCCAGCTACTGGTGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGA GGCAGAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	464	0.0022	-407	c.-14 others(11): Show c.-1497_-1091del	CRYBB2	ENSG00000244752.3	transcript	ENST00000398215.3	protein_coding		1443		chr22	TogoVar
CSF2RA_chrX_1263814_1314935	1314528	CCACTGCA others(400): Show CCACTGCACCTGCCCAATCCCACTGCACCTGCCCAATCCCACTGCACCTG CCCAACCCCACTGCACCTGCCCAACCCCACTGCACCTGCCCAACCACACT GAACCTGCTCAACCCCACTTCACCTGCCCAACTGCACTGCACTTGCCCAA CCCCTCTGTGCCTGCCCAACCCCACTGTGCCTGCCCAATCGCACTGCACC TGCCCAATCCCACTGCACCTGCCCAATCCCACTGCACCTGCCCAATCCCA CTGCACCTGCCCAATCCCACTGCACCTGCCCAACCCCACTGTGCCTGCCC AACCGCACTGCACCTGCCCAATCCCACTGCACCTGCCCAACCGCACTGCA CCTGCCCAACCACACTGAACCTGCTCAACCCCACTTCACCTGCCCAACCG CACTGCAC	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG01070.hp2 others(26): Show HG00639.hp1 HG00639.hp2 HG01070.hp2 HG01081.hp1 HG01123.hp1 HG01123.hp2 HG01192.hp2 HG01934.hp1 HG01993.hp1 HG02004.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02148.hp2 HG02630.hp2 HG02886.hp1 HG03239.hp1 HG03239.hp2 HG03704.hp1 HG03834.hp1 NA18906.hp2 NA18954.hp1 NA18984.hp2 NA18998.hp1 NA19011.hp1 NA19012.hp2 NA19064.hp2 NA20129.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0015 others(6): Show a0001c0001 a0001c0002 a0001c0015 a0001c0018 a0002c0003 a0002c0004 a0002c0006 a0003c0009 a0003c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 a0001c0001t0015 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0015t0003 a0001c0018t0003 a0002c0003t0002 a0002c0004t0003 a0002c0004t0005 a0002c0006t0002 a0002c0006t0003 a0003c0009t0002 a0003c0020t0005	a0001c0001t0001g0017 a0001c0001t0001g0053 a0001c0001t0001g0085 others(26): Show a0001c0001t0001g0017 a0001c0001t0001g0053 a0001c0001t0001g0085 a0001c0001t0001g0095 a0001c0001t0002g0034 a0001c0001t0002g0071 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0117 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0041 a0001c0001t0014g0043 a0001c0001t0015g0027 a0001c0002t0001g0077 a0001c0002t0003g0035 a0001c0002t0003g0122 a0001c0002t0005g0123 a0001c0002t0006g0039 a0001c0015t0003g0081 a0001c0018t0003g0107 a0002c0003t0002g0029 a0002c0004t0003g0109 a0002c0004t0005g0125 a0002c0004t0005g0130 a0002c0006t0002g0126 a0002c0006t0003g0156 a0003c0009t0002g0142 a0003c0020t0005g0129	29	159	0.1824	-407	c.50 others(11): Show c.5050_*5456del	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4594		chrX	TogoVar
DLGAP2_chr8_732628_1713476	1388117	TCTGGTTC others(400): Show TCTGGTTCAGGTGTCAGGGCTGTGAGAGGCAGAGGCAGTGGGTGGGGAGG CACTGGTTCAGGTGTCAGGGCTGTGAGAGGCAGAGACCGTGGATGAGGAG GCGCTGGTTCAGGTGTCAGGGCTGTAAGAGGCAGAGGCCGTGGATGAGGA GGCGCTGGTTCAGGTGTCAGGGCTGTGAGAGGCAGATGCCGTGGATGAGG AGGTGCTGGTTCAAGTGTCAGGGCTGTGAGAGGCAGAGGCCATGGATGAG GAGGCGCTGGTTCAGGTGTCAGGGCTGTGAGAGCAGAGGCCGTGGATGGG GAGGCGCTGGTTCAAGTGTCAGGGCTGTGAGAGGCAGATGCCGTGGATGA GGAAGCGCTGGTTCAAGTGTCAGGGCTGTGAGAGGCAGAGGCCGTGGATG AGGAGGCG	T T	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02647.hp2 HG03492.hp1 others(2): Show HG02071.hp2 HG02647.hp2 HG03492.hp1 HG03516.hp1 NA18906.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0011 a0001c0012 a0002c0001 others(1): Show a0001c0011 a0001c0012 a0002c0001 a0004c0008	a0001c0011t0015 a0001c0012t0004 a0002c0001t0002 others(2): Show a0001c0011t0015 a0001c0012t0004 a0002c0001t0002 a0002c0001t0007 a0004c0008t0016	a0001c0011t0015g0002 a0001c0012t0004g0036 a0002c0001t0002g0013 others(2): Show a0001c0011t0015g0002 a0001c0012t0004g0036 a0002c0001t0002g0013 a0002c0001t0007g0038 a0004c0008t0016g0029	5	40	0.1250	-407	c.107 others(21): Show c.107-113228_107-112822del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
GAL3ST2_chr2_241771822_241809287	241805672	CTCCCCCC others(400): Show CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTC CCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAG GAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG03139.hp2 HG02055.hp2 HG03139.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0011 a0001c0001 a0003c0011	a0001c0001t0001 a0003c0011t0001 a0001c0001t0001 a0003c0011t0001	a0001c0001t0001g0050 a0003c0011t0001g0118 a0001c0001t0001g0050 a0003c0011t0001g0118	2	314	0.0064	-407	c.15 others(11): Show c.1507_*1913del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1386		chr2	TogoVar
IL3RA_chrX_1331785_1387689	1381763	CGATCTCC others(400): Show CGATCTCCTGACCTTGTGATCCCCCTGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCATGAGCCACCATGCCCAGCCTAGTTTTCAACAAGTTTTTAG TGATACCTGTGTCCCTAAGAGAAAGGAAGGGCAGAGGAAAAGGAGGCAGA CATCTCTGTCAGAGTTTTTTGTTTTGTTTTGTTTTGTTTGTTTTTGTTTT TGAGACGCAGTTTTGTTCGTTGCCCCGGCTGGAGTGCAATGGTGCAATCT CGGCTCACTGCAACCTCCACCTTCCCGGTTGAAGGTTCAAGCGATTCTCC TGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCAACACACCC AGCTAATTCTGCATTTTTAGTAGAGAAGGGGTTTCACCATGTTGGCCAGG ATGGTCTG	C C	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	115	0.0087	-407	c.106 others(17): Show c.1063-613_1063-207del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
MGAM_chr7_141990879_142111747	142043051	CTATATTA others(400): Show CTATATTATATATACATATAATATCTAAATATAATATATATATTATATAT ACATATAATATCTAAATATAATATATATATTATATATACATATAATATCT AAATATAATATCTATATTATATATACATATAATATCTAAATATAATATAT ATATTATATATACATATAATATCTAAATATAATATATATATTATATATAC ATATAATATCTAAATATAATATATATATTATATATACATATAATATCTAA ATATAATATATATATTATATATACATATAATATCTAAATATAATATCTAT ATTATATATACATATAATATCTAAATATAATATCTATATTATATATACAT ATAATATCTAAATATAATATCTATATTATATATACATATAATATCTAAAT ATAATATA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02015.hp2 HG02698.hp1 others(4): Show HG00735.hp1 HG02015.hp2 HG02698.hp1 NA18906.hp1 NA18963.hp1 NA18997.hp2 NA19057.hp2	a0001 a0003 a0055 others(1): Show a0001 a0003 a0055 a0056	a0001c0004 a0003c0003 a0055c0048 others(1): Show a0001c0004 a0003c0003 a0055c0048 a0056c0066	a0001c0004t0001 a0003c0003t0001 a0055c0048t0001 others(1): Show a0001c0004t0001 a0003c0003t0001 a0055c0048t0001 a0056c0066t0001	a0001c0004t0001g0094 a0001c0004t0001g0229 a0003c0003t0001g0202 others(4): Show a0001c0004t0001g0094 a0001c0004t0001g0229 a0003c0003t0001g0202 a0003c0003t0001g0203 a0003c0003t0001g0263 a0055c0048t0001g0298 a0056c0066t0001g0313	7	316	0.0222	-407	c.249 others(19): Show c.2498+2279_2498+2685del	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
NEU4_chr2_241804193_241822413	241805672	CTCCCCCC others(400): Show CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTC CCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAG GAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0156 a0001c0004t0001g0156	1	319	0.0031	-407	c.-36 others(11): Show c.-3605_-3199del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3520		chr2	TogoVar
OTUD7A_chr15_31470398_31875673	31511043	TGTATATC others(400): Show TGTATATCTATATGTAACATACATATATATGTATATCTATATGTAACATA CATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACATA CATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACACA CATATGTATATCTATATGTAACACACATACATATGTATATCTATATGTAA CACACATACATATGTATATCTATATGTAACACACATACATATGTATATCT ATATGTAACACACATATATATGTATATCTATATGTAACACACATATATAT GTATATCTATATGTAACACACATATATATGTATATCTATATGTAACACAT ATATATGTATATCTATATGTAACACACACATATATGTATATCTATATGTA ACACACAC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0201 a0001c0002t0021g0201	1	244	0.0041	-407	c.894 others(17): Show c.894-7632_894-7226del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
RGPD4_chr2_107821892_107897544	107827324	CCCGGCCC others(400): Show CCCGGCCCGGCGGCGGCCTCGATGGCTCAGGCGTCATGCCTCCCGACGGG CGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTCGACCCGGCCCGG CCGCGGCCGCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCC TGGCGCGCTCTGTTGAGGCGGAGGCCTCGACCCGGCCCGGTGGCGGCCTC GATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTC TGTTGAGGCGGCGGCCTCGACCTGGCCCGGCGGCGGCCTCGATGGCTCAG GCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCACGCTCTGTTGAGGCG GCGGCCTCGACCTGGCTGGGCGGCGGCGGCCTGGACCTGGCCCGGCGGCG GCCTCGAT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0027 a0027	a0027c0054 a0027c0054	a0027c0054t0045 a0027c0054t0045	a0027c0054t0045g0191 a0027c0054t0045g0191	1	374	0.0027	-407	c.72+ others(13): Show c.72+240_72+646del	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22			chr2	TogoVar
SH3RF3_chr2_109124205_109509634	109199332	ATGGAATG others(400): Show ATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGA ATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGA ATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGA ATGGAATGGAATGGATGGAATGGAATGGGATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGG	A A	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG03942.hp2 NA18945.hp1 HG02074.hp2 HG03942.hp2 NA18945.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0019 a0003c0006 a0001c0001 a0001c0019 a0003c0006	a0001c0001t0005 a0001c0019t0004 a0003c0006t0030 a0001c0001t0005 a0001c0019t0004 a0003c0006t0030	a0001c0001t0005g0063 a0001c0019t0004g0059 a0003c0006t0030g0061 a0001c0001t0005g0063 a0001c0019t0004g0059 a0003c0006t0030g0061	3	172	0.0174	-407	c.573 others(19): Show c.573+69220_573+69626del	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9			chr2	TogoVar
SKI_chr1_2223319_2315213	2281511	AGGACGCC others(400): Show AGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCATAGAGAGGACGC CCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAA GACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGC GGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTG GAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCT TCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGA GAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACG CCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGA GGACAGGC	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0302 a0001c0001t0007g0302	1	330	0.0030	-407	c.970 others(19): Show c.970-21464_970-21058del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SNTG2_chr2_945849_1372613	1012958	AGGGCAGA others(400): Show AGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATATGGGCAGAGAGAA GGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAG AGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATAAG GGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGG GTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGTAGAG GGATTTATAAGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATAAGGG CAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGT GGTCTGTAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGGAGAGGG ATTTATAT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03486.hp1 HG02970.hp1 HG03486.hp1	a0001 a0014 a0001 a0014	a0001c0002 a0014c0035 a0001c0002 a0014c0035	a0001c0002t0001 a0014c0035t0001 a0001c0002t0001 a0014c0035t0001	a0001c0002t0001g0069 a0014c0035t0001g0071 a0001c0002t0001g0069 a0014c0035t0001g0071	2	190	0.0105	-407	c.72+ others(17): Show c.72+61913_72+62319del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1013069	TGGGCAGA others(400): Show TGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATAAGGGCAGAGAGAA GGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAG AGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATAAG GGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATAAGGGCAGAGAGAAGG GTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGTAGAG GGATTTATAAGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGG CAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGT GGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGTAGAGGG ATTTATAA	T T	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0077 a0003c0007t0002g0077	1	190	0.0053	-407	c.72+ others(17): Show c.72+62098_72+62504del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1013462	TAGAGGGA others(400): Show TAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTAT AAGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGA AGGGTGGTCTGTAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGTA GAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAAGGATTTATAT GGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATATGGGCAGAGAGAAG GGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGTAGA GGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGG GCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATAAGGGCAGAGAGAAGGG TGGTCTGG	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp2 NA18522.hp2 HG02965.hp1 HG02965.hp2 NA18522.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0002 a0003c0008 a0006c0028 a0001c0002 a0003c0008 a0006c0028	a0001c0002t0001 a0003c0008t0001 a0006c0028t0001 a0001c0002t0001 a0003c0008t0001 a0006c0028t0001	a0001c0002t0001g0133 a0003c0008t0001g0106 a0006c0028t0001g0117 a0001c0002t0001g0133 a0003c0008t0001g0106 a0006c0028t0001g0117	3	190	0.0158	-407	c.72+ others(17): Show c.72+62408_72+62814del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1013832	GAGAGGGA others(400): Show GAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTAT ATGGGCAGAGAGAAGGGTGGTCTGGAGAAGGATTTATATGGGCAGAGAGA AGGGTGGTCTGTAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGA GAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATAT GGGCAGAGAGAAGGGTGGTCTGGAGAAGGATTTATATGGGCAGAGAGAAG GGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGA AGGATCTATATGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATATGG GCAGAGAGAAGGGTGGTCTGGAGAAGGATTTATATGGGCAGAGAGAAGGG TGGTCTGT	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0014 a0014	a0014c0035 a0014c0035	a0014c0035t0001 a0014c0035t0001	a0014c0035t0001g0071 a0014c0035t0001g0071	1	190	0.0053	-407	c.72+ others(17): Show c.72+62778_72+63184del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1014113	GAGAAGGG others(400): Show GAGAAGGGTGGTCTGGAGAAGGATCTATATGGGCAGAGAGAAGGGTGGTC TGTAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAAGGATTT ATATGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATATGGGCAGAGA GAAGGGTGGTCTGGAGAAGGATTTATATGGGCAGAGAGAAGGGTGGTCTG TAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTAT AAGGACAGAGAGAAGGGTGGTCTGGAAAGTGATTTACAAGGGTAGAGAGA AGGGTGCTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGTA GAGGGATTTATAAGGACAGAGAGAAGGGTGGTCTGGAGAGGGATTTATAT GGGCAGAA	G G	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0080 a0003c0007t0001g0080	1	190	0.0053	-407	c.72+ others(17): Show c.72+63069_72+63475del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SRGAP2B_chr1_144882288_145100328	144882889	GCGGCAAA others(400): Show GCGGCAAAAAGCCGGGTCGGGCAAAAAGCCGCGTCGGCGGGGGGGAAAAA GCCGCGGCGGCAAAAAGCCGGGTCGGGCAAAAAGCCGCGGAGGCAAAAAA AGCCGCGGTGGCAGGGGGCAAAAAGCCGCGGCGGGCAGAAAGTCCTGGGG GCGGGGGGCAAAAAGCCACGGCCGGCAAAAAACCGCGGCGGCAGGGGGCA AAAAGCCGGGTCTGGCAAAAAGCCGTGGAGGCAAAAAGCCGCGGTGGGCA GAAAGCCATGGCGGCGGGGTGCAAAAAGCCGCAGCGGGCAGAAAGCCGCG GCGGGGGGGCAAAAAGCCGCGGCCCGCAAAAAGCAGCGGCGGCGGGGGTG CAAAAAGCCGCTGCGGGCAAATAAGTGCGGCACCGGCGGGGGGGGTAAAA GGCCGGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	56	0.0179	-407	c.88 others(11): Show c.8864_*9270del	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding		4398		chr1	TogoVar
TLCD3A_chr17_727596_747968	728040	CCGTGCCC others(400): Show CCGTGCCCACGTGCCCACCCCCTGTGCCGTATCTTTCTATGTCTCTTCCT ATTTCTTCATTCTCCTTTTGTCCTTCCTGCCCTCTCTCTGCTTCAATGGT CCCTACTGTGGAAATGAAGTATGGGTCTACACAAAGTAACTTTTACTTCA GAACAGATGTCCATTTTCTCTGTTAGGGTATTTATTTATTTATTTGAGAC AGGTTCTTGCTCTGTCGCCCAGACTGCAGTACAGTGGCACAATCTGGGAT CATTGCAACCTCTGTCTCCCAGGCTCAAGCAGTCCTCCCATCTCGGCCTC CTGCGTAACTGGGACTACAGTTACTGGGGTGGGTTCCACCCATCTGGCTT TTTTTTTTTTTTTTTTTGAGAGACAGGGTTTTGCCATGTTGTCCAGGCTG GTCTCCAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01346.hp2 HG02818.hp2 others(3): Show HG01109.hp2 HG01346.hp2 HG02818.hp2 HG03098.hp2 HG03471.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0089 a0001c0001t0005g0020 a0001c0001t0005g0135 a0001c0001t0002g0089 a0001c0001t0005g0020 a0001c0001t0005g0135	6	396	0.0152	-407	c.-46 others(11): Show c.-4607_-4201del	TLCD3A	ENSG00000167695.15	transcript	ENST00000308278.13	protein_coding		4555		chr17	TogoVar
ZNF20_chr19_12126350_12145350	12136853	GAAGGAAC others(400): Show GAAGGAACAGGGACAGATGGTTACCTACAGGAGAACAAACAATCTTTGAA GCCCATCATCTCCATATGAATTAATTCTAGAGTTGCCTGTTACCGTGACT TCTTATGTTACCTTACCATGCATTTTCATTATGGGTTTCACTTTCTTATA ACAGAAGAAACCCGTACTCAAGCCGTGTGTAGTGGCTCATGCCTGTAATC CCAGCACTTTGGGAGGCCAAGGCAGGCCAATCACTTCAGGTGAGGAGTTC AAGACCAGTCTGGCCAACATGGTGAAACTCCCTCTCTACTAAAAAACACA AAAATTAGCCGGGTGTGTGCGTGCCTGTAATCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATCGCTTGAACTCGGGAAGCGGCGGTTGCAGTGAGCTGA GAGAGCGC	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03471.hp1 HG02145.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	2	364	0.0055	-407	c.4-1 others(12): Show c.4-1356_4-950del	ZNF20	ENSG00000132010.16	transcript	ENST00000334213.10	protein_coding	1/3			chr19	TogoVar
BTBD9_chr6_38163451_38644929	38428733	GATGGAGT others(399): Show GATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCG GCTCACTGCAAACTCTGCCTCCCGGATTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCACCACGCCCGGCTAATTTTTT GTATGTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGTATGGTCTTGA TCTCCTGAACTCGTGATCTGCCTGCCTTGGCTTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACTGCGCCCGGCCCCAGAATGATTTTTCATTTGACTC TGTCATCTACTGCATTAGTTCTTTCCACTTGCCTATTATATTTTCTTCTA GGTTTCTGGTCAGGAGAGAGCCAAGAGCAAAATCCAGTGATACCCCATTA GATACTT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02572.hp1 HG02055.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0114 a0001c0001t0136 a0001c0001t0114 a0001c0001t0136	a0001c0001t0114g0013 a0001c0001t0136g0142 a0001c0001t0114g0013 a0001c0001t0136g0142	2	224	0.0089	-406	c.115 others(21): Show c.1155-84046_1155-83641del	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10			chr6	TogoVar
CCDC183_chr9_136791338_136812741	136802874	CTGGGGGC others(399): Show CTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGG	C C	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0375 a0001c0001t0001g0375	1	398	0.0025	-406	c.666 others(14): Show c.666+89_666+494del	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13			chr9	TogoVar
CCDC73_chr11_32597721_32799662	32755927	CTATATAT others(399): Show CTATATATATATCTCCATATATATATCTATATATATATCTCCATATATAT ATCTATATATATATCTCCATATATATATCTATATATATATCTCCATATAT ATATCTATATATATATCTCCATATATATATCTATATATATATCTCCATAT ATATATCTATATATATATCTCCATATATATATCTATATATATATCTCCAT ATATATATCTATATATATATCTCCATATATATATCTATATATATATCTCC ATATATATATCTATATATATATCTCCATATATATATCTATATATATATCT CCATATATATATCTATATATATATCTCCATATATATATCTATATATATAT CTCCATATATATATCTATATATATATCTCCATATATATATCTATATATAT ATCTCCA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp2 HG00609.hp1 others(92): Show HG00408.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01074.hp1 HG01099.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01255.hp2 HG01256.hp1 HG01433.hp2 HG01515.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01978.hp2 HG01993.hp2 HG02040.hp2 HG02055.hp1 HG02083.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp2 HG02523.hp1 HG02602.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG02976.hp2 HG03130.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp2 HG03471.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp2 NA18941.hp1 NA18944.hp2 NA18948.hp1 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18963.hp2 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp2 NA18980.hp2 NA18983.hp2 NA18986.hp2 NA18990.hp1 NA18992.hp1 NA18993.hp2 NA18994.hp1 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19011.hp1 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19079.hp1 NA19081.hp1 NA19085.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0230 a0001c0002t0001g0001 a0001c0002t0001g0002 others(92): Show a0001c0001t0001g0230 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124	95	312	0.3045	-406	c.135 others(17): Show c.135+3776_135+4181del	CCDC73	ENSG00000186714.13	transcript	ENST00000335185.10	protein_coding	2/17			chr11	TogoVar
CSNK1G2_chr19_1936172_1986338	1967847	GCTCCTCC others(399): Show GCTCCTCCCTCCTCCCTTCTCCCCAGGCTGCCCCCGACCACCCTTCAGTT CTGCAGGTGGGGCTCCTCCCTCCTCCCTTCTCCCCAGGCTGCCCCCGACC ACCCTTCAGTTCTGCAGGTGGGGCTCCTCCCTCCTCCCCAGGCTGCCCCC GACCACCCTTCAGTTCTGCAGGTGGGGGCTCCTCCCTCCTCCCCAGGCTG CCCCCACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCCTCCTCCCTCCT CCCCAGGCTGCCCCCGACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCC CAGGCTGTCCCTGACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCCTCC TCCCTCCTCCCCAGGCTGCCCCAGACCACCCTTCAGTTCTGCAGGTGGGG CTCCTCC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03225.hp2 HG01884.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0318 a0001c0001t0001g0368 a0001c0001t0001g0318 a0001c0001t0001g0368	2	382	0.0052	-406	c.-26 others(19): Show c.-265-1652_-265-1247del	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CSRNP2_chr12_51056205_51088596	51069350	GATCTCGG others(399): Show GATCTCGGCTCACTGCAATCTCTGCCTCCTGGGTTCAAGTGATTCTCCTG CCTCAGCCTTCCAAGTAGCTGGAATTACAGGCTCCTGCCACCATGCTCAG CTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACAATGTTGCCCAGGC TGGTCTCGAACTCCCGACCTCAACTGATACACCCAACTCCACCTCCCTAA GTGCTATAATTACAGGCCTGAGCCACTGCACCAGGCCTAATCCTTTTTTA TTTGACTTCAAAGAAAAGCTGTATGTGAGGAAAGGTGGTATCAATAATAC TGAGCGTACTATGTACAGGCAGAAATCTGGGTTTTTTTTTTTCTTTTTTT TCTTTTTTTTTGAGACTGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAG TGCTGCA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02145.hp2 HG02451.hp2 others(10): Show HG01346.hp2 HG02145.hp2 HG02451.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03540.hp1 HG03579.hp2 NA19240.hp2 NA21309.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0003 a0006c0006t0003 a0001c0001t0003 a0006c0006t0003	a0001c0001t0003g0013 a0001c0001t0003g0169 a0001c0001t0003g0170 others(8): Show a0001c0001t0003g0013 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0276 a0006c0006t0003g0168	13	420	0.0310	-406	c.412 others(17): Show c.412-1787_412-1382del	CSRNP2	ENSG00000110925.7	transcript	ENST00000228515.6	protein_coding	3/4			chr12	TogoVar
DNAAF5_chr7_721699_791475	747673	TGTGTCCG others(399): Show TGTGTCCGGCTGGTGTGCAGTGGTGGCCCACGGTGTTGGTGGGGTTTGCT GGTTTCAGCATGTCCGGCTGGTGTGCAGTGGTGGCCCACGGTGTTGGTGG GGTTTGCTGGTTTCAGCGTGTCCGGCTGGTGTGCAGTGTTGTCACACAGG GTTGGTGGGGTTTGCTGGTTTCAGTGTGTCCAGTTGGTGTGCAGTGGTGG CCCACGGTGTTGGTGGGGTTTGCTGGTTTGAGCGTGTCCGGCTGGTGTGC AGTGGTGGCCCACGGTGTTGGTGGGGTTTGCTGGTTTCAGCGTGTCCGGC TGGTGTGCAGTGTTGTCACACAGGGTTGGTGGGGTTTGCTGGTTTCAGTG TGTCCAGTTGGTGTGCAGTGGTGGCCCACGGTGTTGGTGGGGTTTGCTGG TTTGAGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00738.hp1 others(28): Show HG00099.hp1 HG00140.hp2 HG00738.hp1 HG00741.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01358.hp1 HG01515.hp2 HG01884.hp2 HG02040.hp2 HG02135.hp1 HG02486.hp2 HG02615.hp1 HG02698.hp1 HG02735.hp2 HG03490.hp2 HG03492.hp1 HG03669.hp1 HG03688.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA19002.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0003c0003 a0001c0004 a0003c0003	a0001c0004t0001 a0003c0003t0003 a0001c0004t0001 a0003c0003t0003	a0001c0004t0001g0027 a0001c0004t0001g0028 a0001c0004t0001g0030 others(26): Show a0001c0004t0001g0027 a0001c0004t0001g0028 a0001c0004t0001g0030 a0001c0004t0001g0031 a0001c0004t0001g0032 a0001c0004t0001g0033 a0001c0004t0001g0034 a0001c0004t0001g0035 a0001c0004t0001g0036 a0001c0004t0001g0038 a0001c0004t0001g0039 a0001c0004t0001g0040 a0001c0004t0001g0041 a0001c0004t0001g0042 a0001c0004t0001g0043 a0001c0004t0001g0044 a0001c0004t0001g0045 a0001c0004t0001g0046 a0001c0004t0001g0047 a0001c0004t0001g0048 a0001c0004t0001g0049 a0001c0004t0001g0050 a0001c0004t0001g0051 a0001c0004t0001g0052 a0001c0004t0001g0053 a0001c0004t0001g0054 a0001c0004t0001g0056 a0001c0004t0001g0115 a0003c0003t0003g0008	31	378	0.0820	-406	c.102 others(19): Show c.1024+6267_1025-6452del	DNAAF5	ENSG00000164818.16	transcript	ENST00000297440.11	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAJC25_chr9_111626334_111659345	111641501	GGCCAGCC others(399): Show GGCCAGCCGCCCGGTCCGGGAGGGAGGTGGGGGGGTCGGACCCCGCCCGG CCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCTGCCCG GCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT ACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT CTGCCCA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03098.hp2 HG03453.hp1 others(2): Show HG02809.hp1 HG03098.hp2 HG03453.hp1 HG03516.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0011 a0001c0002t0005g0249 a0001c0002t0005g0011 a0001c0002t0005g0249	5	412	0.0121	-406	c.337 others(17): Show c.337-5594_337-5189del	DNAJC25	ENSG00000059769.20	transcript	ENST00000313525.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPH7_chr9_137549444_137583925	137565842	TGTCTGTG others(399): Show TGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC GGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02145.hp2 HG03139.hp2 others(5): Show HG00741.hp2 HG02145.hp2 HG03139.hp2 HG03486.hp1 NA18984.hp2 NA19083.hp1 NA19083.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0042 a0001c0001t0001g0108 others(4): Show a0001c0001t0001g0005 a0001c0001t0001g0042 a0001c0001t0001g0108 a0001c0001t0001g0189 a0001c0001t0001g0202 a0001c0001t0001g0215 a0001c0001t0001g0216	8	340	0.0235	-406	c.641 others(16): Show c.641-1094_641-689del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
ERC1_chr12_986223_1500931	1122223	ATCTCTAT others(399): Show ATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTCTAT CTGTGTCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCT CTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTGT GTCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTAT CTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTCTATCT GTGTCTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCT ATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTGTGT CTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCT GTGTCTC	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00741.hp1 HG02970.hp2 others(3): Show HG00544.hp1 HG00741.hp1 HG02970.hp2 HG03654.hp2 NA19043.hp2 NA20805.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0009 a0001c0001 a0002c0002 a0006c0009	a0001c0001t0013 a0001c0001t0124 a0002c0002t0018 others(3): Show a0001c0001t0013 a0001c0001t0124 a0002c0002t0018 a0002c0002t0064 a0002c0002t0135 a0006c0009t0025	a0001c0001t0013g0015 a0001c0001t0124g0050 a0002c0002t0018g0117 others(3): Show a0001c0001t0013g0015 a0001c0001t0124g0050 a0002c0002t0018g0117 a0002c0002t0064g0069 a0002c0002t0135g0093 a0006c0009t0025g0110	6	162	0.0370	-406	c.156 others(19): Show c.1569+6192_1569+6597del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
EXOC3L4_chr14_103089725_103115559	103109283	TCTCCCTC others(399): Show TCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCC TCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCT GCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCC CTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTC TCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGTCCCC ATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCT CCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCAC CCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTC TCCCTCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp2 HG00738.hp2 others(28): Show HG00099.hp2 HG00558.hp2 HG00738.hp2 HG01070.hp2 HG01081.hp1 HG01256.hp2 HG01496.hp1 HG01952.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02698.hp1 HG02717.hp1 HG02809.hp1 HG02965.hp1 HG02976.hp1 HG03130.hp2 HG03471.hp1 HG03927.hp1 NA18948.hp2 NA18951.hp2 NA18954.hp2 NA18977.hp1 NA19067.hp2 NA19086.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0006 a0008 a0030 a0039 a0044	a0001c0003 a0001c0005 a0001c0020 others(9): Show a0001c0003 a0001c0005 a0001c0020 a0002c0006 a0002c0013 a0003c0001 a0005c0004 a0006c0009 a0008c0039 a0030c0062 a0039c0065 a0044c0040	a0001c0003t0002 a0001c0005t0001 a0001c0020t0002 others(11): Show a0001c0003t0002 a0001c0005t0001 a0001c0020t0002 a0002c0006t0002 a0002c0013t0001 a0002c0013t0002 a0003c0001t0002 a0005c0004t0001 a0005c0004t0002 a0006c0009t0001 a0008c0039t0008 a0030c0062t0007 a0039c0065t0001 a0044c0040t0001	a0001c0003t0002g0011 a0001c0003t0002g0027 a0001c0003t0002g0256 others(24): Show a0001c0003t0002g0011 a0001c0003t0002g0027 a0001c0003t0002g0256 a0001c0003t0002g0261 a0001c0003t0002g0271 a0001c0003t0002g0300 a0001c0003t0002g0307 a0001c0003t0002g0326 a0001c0005t0001g0007 a0001c0005t0001g0194 a0001c0020t0002g0263 a0001c0020t0002g0298 a0002c0006t0002g0011 a0002c0006t0002g0266 a0002c0006t0002g0267 a0002c0006t0002g0299 a0002c0013t0001g0248 a0002c0013t0002g0264 a0002c0013t0002g0269 a0003c0001t0002g0109 a0005c0004t0001g0230 a0005c0004t0002g0227 a0006c0009t0001g0333 a0008c0039t0008g0247 a0030c0062t0007g0031 a0039c0065t0001g0340 a0044c0040t0001g0332	31	404	0.0767	-406	c.197 others(17): Show c.1977-736_1977-331del	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
HSD17B14_chr19_48808018_48841491	48834421	TTGGACTC others(399): Show TTGGACTCCTGGGTCTGAGGGAGGAGGTGCTGGGGGCCTGGACTCCTGGG TCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCTGAGGAAGTAGG GCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTG GACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCT GAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTAGGGC CTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGA CTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGA GGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCT GGGGGCC	T T	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	394	0.0025	-406	c.128 others(14): Show c.128-469_128-64del	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
ITGB5_chr3_124756948_124892365	124789671	TCAGAACC others(399): Show TCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGA CAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTC TGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGA ACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGG TTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACT AGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGC CTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATC AGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACA GGGTTAA	T T	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG04199.hp1 HG02698.hp2 HG04199.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0003 a0001c0001t0001 a0004c0005t0003	a0001c0001t0001g0254 a0004c0005t0003g0144 a0001c0001t0001g0254 a0004c0005t0003g0144	2	352	0.0057	-406	c.169 others(19): Show c.1693+6311_1693+6716del	ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	10/14			chr3	TogoVar
ITGB5_chr3_124756948_124892365	124789845	TCAGAACC others(399): Show TCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGA CAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTC TGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGA ACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGG TTATCAGAACCGCCTCTGACTAGACAGGGTTAACAGAACCGCCTCTGACT AGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGC CTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATC AGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACA GGGTTAA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0009 a0001c0008t0009	a0001c0008t0009g0245 a0001c0008t0009g0245	1	352	0.0028	-406	c.169 others(19): Show c.1693+6137_1693+6542del	ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	10/14			chr3	TogoVar
PLEKHA4_chr19_48832097_48873617	48834421	TTGGACTC others(399): Show TTGGACTCCTGGGTCTGAGGGAGGAGGTGCTGGGGGCCTGGACTCCTGGG TCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCTGAGGAAGTAGG GCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTG GACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCT GAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTAGGGC CTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGA CTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGA GGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCT GGGGGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0016 a0002c0010t0016	a0002c0010t0016g0103 a0002c0010t0016g0103	1	300	0.0033	-406	c.24 others(11): Show c.2462_*2867del	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding		2675		chr19	TogoVar
POLE_chr12_132618762_132692342	132671188	AGGAGGCA others(399): Show AGGAGGCAAAGGTTGCAGTAAGCCGAGATCATGCCATTGCACTCCAGTGT GGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA GTTTCTTGGCATCAATGTGAAAACTGTTAAAAACTCTAAACCAGCAACCT CACTGAACATGATGTAGTGCTGCACAGTGCCTGACATAAAGACCTGAGAT AGGCCAGGCGCGGTGCCTCACACCTGTAATCCCAGCACTTTGGGAGGCCA AGGCAGGCGGATCACAAGGTCAGGAGTTCAAGATCAGACTGGACAACATG GTGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGTGTGGTGGC GGATGCCTGTAATCCCAGCTACTGGGGAGCCTGAGGCAGGAGAATTGCTT GAACCCG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03471.hp2 NA19043.hp1 HG03139.hp1 HG03471.hp2 NA19043.hp1	a0001 a0011 a0001 a0011	a0001c0005 a0011c0038 a0001c0005 a0011c0038	a0001c0005t0004 a0011c0038t0004 a0001c0005t0004 a0011c0038t0004	a0001c0005t0004g0175 a0001c0005t0004g0191 a0011c0038t0004g0192 a0001c0005t0004g0175 a0001c0005t0004g0191 a0011c0038t0004g0192	3	292	0.0103	-406	c.179 others(18): Show c.1794+621_1794+1026del	POLE	ENSG00000177084.19	transcript	ENST00000320574.10	protein_coding	16/48			chr12	TogoVar
RASA3_chr13_113972783_114137623	114005924	TCCCCACT others(399): Show TCCCCACTCCTGCCCTGCTGGATGCCACCTTACCCTTCTCCCCTCCTGCC CTGCCGGACGCCACCTTACCCTTCTCCCCTCCTGCCCTGCCGGACGCCAC CTTACCCTTCTCCCCCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTC CCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCACTCCTGCCCT GCTGGATGCCACCTTACCCTTCTCCCCTCCTGCCCTGCTGGACACCACCT TACCCTTCTCCCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCA CTCCTGCCCTGCCGGATGCCACCTTACCCTTCTCCCCTCCTGCCCTGCTG GACACCACCTTACCCTTCTCCCCTCCTGCCCTGCCGGACGCCACCTTACC CTTCTCC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01361.hp1 HG02280.hp1 others(4): Show HG00639.hp2 HG01361.hp1 HG02280.hp1 HG02280.hp2 HG02559.hp1 HG02738.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 others(4): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0028 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0065	7	67	0.1045	-406	c.174 others(19): Show c.1742+1203_1742+1608del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114006052	CGGACGCC others(399): Show CGGACGCCACCTTACCCTTCTCCCCTCCTGCCCTGCCGGACGCCACCTTA CCCTTCTCCCCACTCCTGCCCTGCTGGATGCCACCTTACCCTTCTCCCCT CCTGCCCTGCTGGACACCACCTTACCCTTCTCCCCTCCTGCCCTGCCGGA CGCCACCTTACCCTTCTCCCCACTCCTGCCCTGCCGGATGCCACCTTACC CTTCTCCCCTCCTGCCCTGCTGGACACCACCTTACCCTTCTCCCCTCCTG CCCTGCCGGACGCCACCTTACCCTTCTCCCCCCTCCTGCCCTGCCGGACG CCACCTTACCCTTCTCCCCACTCCTGCCCTGCCGGACGCCACCTTACCCT TCTCCCCACTCCTGCCCTGCCGGATGCCACCTTACCCTTCTCCCCTCCTG CCCTGCT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	67	0.0149	-406	c.174 others(19): Show c.1742+1075_1742+1480del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23			chr13	TogoVar
RNF213_chr17_80255852_80403794	80355397	ATGGGAAT others(399): Show ATGGGAATGGGGGCTCACGGAGGAAGAAGCGGGGTGGATGGGAATCGGGG CTCACGGAGGAAGAGGGGTGACCGGGAATGGGGGCTCACAGAGGAAGAAG CGGGGTGACCGGGAATGGGGGCTTACAGGGGGAAGAAGCGGGGTGGACGG GAATGGGGGCTTATGGAGGAAGAAGCGGGGTGAGTGGGAATGGGGGCTTA CAGGGGAAGAAGCGGGGTGAGTGGGAATGGGGGCTTACAGGGGAAGAAGC GGGGTGGACGGGAATGGGGGCTTACAGGGGGAAGAAGCGGGGTGACCGGG AATGGGGGCTTACAGAGGAAGAAGCGGGGTGGACGGGAATGGGGGCTCAC GGAGGAAGAAGCGGGGTGAATGGGAATGGGGGCTCATGGAGGAAAAAGCG GGGTGAC	A A	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0003 a0005c0007t0003	a0005c0007t0003g0209 a0005c0007t0003g0209	1	292	0.0034	-406	c.108 others(20): Show c.10862+822_10862+1227del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67			chr17	TogoVar
SORCS2_chr4_7187538_7747827	7441935	CACCCCCT others(399): Show CACCCCCTCCCCCAGCCCAGATCACCCTCCACCCCCTCCCCCAGCCCAGA TCACCCTCCACCTCCTCTCACAGCCCAGGTCACCATCCACCCCCTCCCCC AGCCCAGATCACCCTCCATCCCCTCCCCCAGCCCAGATCACCCTCCACCC CCTCCTTCAGCCCAGATCACCCTCCACCCCCTCCCCCAGCCCAGATCACC CTCCACCCCCTCCCCCAGCCCAGGTCGTCATCCACCTCCTCTCACAGCCC AGGTCACCATCCACCCCCTCCCCCAGCCCAGATCACCCTCCACCCCCTCC TTCAGCCCAGATCACCCTCCACCCCCTCCCCCAGCCCAGATCACCCTCCA CCCCCTCCCTGAGCCCAGATCACCCTCCACCCCCTCCCCCATCCCAGATC ACCCTCT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG01192.hp2 others(10): Show HG00323.hp2 HG00438.hp1 HG01192.hp2 HG01243.hp2 HG01981.hp2 HG02148.hp1 HG02602.hp1 HG02976.hp2 HG03139.hp1 HG04115.hp1 HG04199.hp1 NA19000.hp2 NA20300.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0015	a0001c0001 a0001c0006 a0001c0014 others(5): Show a0001c0001 a0001c0006 a0001c0014 a0001c0015 a0001c0026 a0002c0004 a0004c0007 a0015c0023	a0001c0001t0003 a0001c0001t0006 a0001c0006t0001 others(10): Show a0001c0001t0003 a0001c0001t0006 a0001c0006t0001 a0001c0014t0034 a0001c0015t0011 a0001c0026t0062 a0002c0004t0002 a0002c0004t0003 a0002c0004t0012 a0002c0004t0024 a0004c0007t0001 a0004c0007t0015 a0015c0023t0008	a0001c0001t0003g0098 a0001c0001t0006g0111 a0001c0006t0001g0119 others(10): Show a0001c0001t0003g0098 a0001c0001t0006g0111 a0001c0006t0001g0119 a0001c0014t0034g0040 a0001c0015t0011g0015 a0001c0026t0062g0049 a0002c0004t0002g0127 a0002c0004t0003g0046 a0002c0004t0012g0035 a0002c0004t0024g0057 a0004c0007t0001g0126 a0004c0007t0015g0166 a0015c0023t0008g0122	13	168	0.0774	-406	c.548 others(19): Show c.548+45589_548+45994del	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
ASMT_chrX_1610059_1648081	1640288	GTGAGATA others(398): Show GTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGA TGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTG TCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGG GCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAG GTCCACCCATCCTGATGCTTCATGAGGACGTGGGCACAGCCTCTGTGTAT GATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCA CATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCA GCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACAC AGCCTC	G G	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0165 a0001c0001t0005g0165	1	223	0.0045	-405	c.911 others(17): Show c.911-2512_911-2108del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP54_chr12_96484577_96880555	96827154	ATTATATG others(398): Show ATTATATGTGATTATATATAATGTGCAGTTATATGTGATTATATATAATG TGCAGTTATATGTGATTATATATAATGTGCAGTTATATGTGATTATATAT AGTGTGCAGTTATATGTGATTATATATAGTGTGCAGTTATATGTGATTAT ATATAGTGTGCAGTTATATGTGATTATATATAGTGTGCAGTTATATGTGA TTATATATAGTGTGCAGTTATATGTGATTATATATAGTGTGCAGTTATAT GTGATTATATATAGTGTGCAGTTATATGTGATTATATATAGTGTGCAGTT ATATGTGATTATATATAGTGTGCAGTTATATGTGATTATATATAGTGTGC AGTTATATGTGATTATATATAGTGTGCAGTTATATGTGATTATATATAGT GTGCAG	A A	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0143 a0002c0003t0001g0143	1	268	0.0037	-405	c.909 others(19): Show c.9097-1840_9097-1436del	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	65/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CROCC2_chr2_240901336_240998311	240976781	GCTCTGGG others(398): Show GCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCT GGGGTAGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGT AGGAGCCTCAGGAGCCCAGACTCATCCCTGCTCAGTCTCTGGGGTAGGAG CCTCTGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCA GGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATC CCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGAGCCCAGG CTCATCCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCAT CCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTG CTCAGT	G G	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03704.hp2 HG03490.hp2 HG03492.hp1 HG03704.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0057 a0002c0002t0002g0301 a0002c0002t0002g0302 a0002c0002t0001g0057 a0002c0002t0002g0301 a0002c0002t0002g0302	3	350	0.0086	-405	c.440 others(19): Show c.4402-6035_4402-5631del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar

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Search Results (Total: 10000 hits)