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
CCDC38_chr12_95862048_95947614	95908510	AGAGGGAG others(164): Show AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGGAGAGGGAGAGGGAGAGGGAGG AGAGGGAGAGGGAGAGGGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG03017.hp2 HG01071.hp2 HG03017.hp2	a0003 a0003	a0003c0006 a0003c0013 a0003c0006 a0003c0013	a0003c0006t0001 a0003c0013t0002 a0003c0006t0001 a0003c0013t0002	a0003c0006t0001g0118 a0003c0013t0002g0257 a0003c0006t0001g0118 a0003c0013t0002g0257	2	350	0.0057	-171	c.305 others(17): Show c.305-2230_305-2060del	CCDC38	ENSG00000165972.13	transcript	ENST00000344280.8	protein_coding	4/15			chr12	TogoVar
CDC16_chr13_114229897_114277723	114231068	CTGCTGCT others(164): Show CTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGA GTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGT GGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGG ATCGTGCGGGTGGAGTGCCCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0018 a0001c0002t0002g0018	1	380	0.0026	-171	c.-40 others(11): Show c.-4016_-3846del	CDC16	ENSG00000130177.16	transcript	ENST00000356221.8	protein_coding		3828		chr13	TogoVar
CDC16_chr13_114229897_114277723	114231078	AGGTGGGG others(164): Show AGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTG CTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGTGGGTGGAGTG CCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGCGGG TGGAGTGCCCATTGCTGCTGGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 NA18955.hp1 HG02132.hp1 NA18955.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0045 a0001c0002t0002g0045	2	380	0.0053	-171	c.-40 others(11): Show c.-4006_-3836del	CDC16	ENSG00000130177.16	transcript	ENST00000356221.8	protein_coding		3818		chr13	TogoVar
CDC16_chr13_114229897_114277723	114231135	CGGTGGGG others(164): Show CGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGTGGGTGGAGTGCCCATTG CTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGCGGGTGGAGTG CCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGG TGGAGTGCCCATTGCTGCTGGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02809.hp1 HG03098.hp1 others(1): Show HG02145.hp1 HG02809.hp1 HG03098.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0007 a0001c0002t0002 a0001c0002t0007	a0001c0002t0002g0050 a0001c0002t0002g0196 a0001c0002t0007g0217 others(1): Show a0001c0002t0002g0050 a0001c0002t0002g0196 a0001c0002t0007g0217 a0001c0002t0007g0218	4	380	0.0105	-171	c.-39 others(11): Show c.-3949_-3779del	CDC16	ENSG00000130177.16	transcript	ENST00000356221.8	protein_coding		3761		chr13	TogoVar
CDC16_chr13_114229897_114277723	114231281	GGGGTGGA others(164): Show GGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTG GATCGTGGGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAG GTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTG GTGGGAGGTGGTTGGATCGTGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02895.hp1 HG02818.hp1 HG02895.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0147 a0001c0003t0004g0150 a0001c0003t0004g0147 a0001c0003t0004g0150	2	380	0.0053	-171	c.-38 others(11): Show c.-3803_-3633del	CDC16	ENSG00000130177.16	transcript	ENST00000356221.8	protein_coding		3615		chr13	TogoVar
CDH15_chr16_89166748_89200492	89192580	ACGCCGCT others(164): Show ACGCCGCTTCCTCCCCAGCTCCGCCTCCTCCCTAACCCCGCCCCGTCATT ACCAGCCACGCCGCTTCCTCCCCAGCTCCGCCTCCTCCCTAACCCCGCCC CCTCATTACCAGCCACGCCGCTTCCTCCCCAGCTCCGCCTCCTCCCTAAC CCCGCCCCCTCATTACCAGCCT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01261.hp1 HG01952.hp1 others(1): Show HG01123.hp2 HG01261.hp1 HG01952.hp1 HG02273.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0035 a0003c0003t0001g0217 a0003c0003t0001g0284 a0003c0003t0001g0035 a0003c0003t0001g0217 a0003c0003t0001g0284	4	406	0.0099	-171	c.185 others(17): Show c.1855+180_1855+350del	CDH15	ENSG00000129910.8	transcript	ENST00000289746.3	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH15_chr16_89166748_89200492	89192637	ACGCCGCT others(164): Show ACGCCGCTTCCTCCCCAGCTCCGCCTCCTCCCTAACCCCGCCCCCTCATT ACCAGCCACGCCGCTTCCTCCCCAGCTCCGCCTCCTCCCTAACCCCGCCC CCTCATTACCAGCCTCGCCGCTTCCTCCCCAGCTCCGCCTCCTCCCTAAC CCCGCCCCCTCATTACCAGCCT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00438.hp2 others(67): Show HG00140.hp2 HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00735.hp2 HG01106.hp1 HG01109.hp1 HG01175.hp2 HG01256.hp2 HG01258.hp1 HG01516.hp2 HG01517.hp2 HG01928.hp2 HG01943.hp1 HG01978.hp2 HG01993.hp1 HG02027.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02523.hp2 HG02559.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02965.hp1 HG03017.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03927.hp2 HG03942.hp1 NA18522.hp1 NA18522.hp2 NA18947.hp1 NA18963.hp1 NA18968.hp2 NA18969.hp2 NA18985.hp1 NA18985.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA19056.hp1 NA19063.hp1 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19081.hp2 NA19084.hp1 NA19088.hp1 NA19090.hp2 NA20129.hp2 NA20300.hp2	a0002 a0003 a0008 others(1): Show a0002 a0003 a0008 a0012	a0002c0004 a0003c0003 a0003c0009 others(3): Show a0002c0004 a0003c0003 a0003c0009 a0003c0038 a0008c0017 a0012c0026	a0002c0004t0001 a0002c0004t0003 a0002c0004t0004 others(8): Show a0002c0004t0001 a0002c0004t0003 a0002c0004t0004 a0003c0003t0001 a0003c0003t0003 a0003c0003t0004 a0003c0003t0006 a0003c0009t0001 a0003c0038t0001 a0008c0017t0001 a0012c0026t0001	a0002c0004t0001g0156 a0002c0004t0001g0175 a0002c0004t0001g0258 others(58): Show a0002c0004t0001g0156 a0002c0004t0001g0175 a0002c0004t0001g0258 a0002c0004t0001g0259 a0002c0004t0003g0061 a0002c0004t0004g0026 a0002c0004t0004g0027 a0002c0004t0004g0028 a0002c0004t0004g0029 a0002c0004t0004g0097 a0002c0004t0004g0111 a0002c0004t0004g0113 a0002c0004t0004g0114 a0002c0004t0004g0115 a0002c0004t0004g0116 a0002c0004t0004g0117 a0002c0004t0004g0118 a0002c0004t0004g0119 a0002c0004t0004g0121 a0002c0004t0004g0122 a0002c0004t0004g0279 a0003c0003t0001g0031 a0003c0003t0001g0055 a0003c0003t0001g0056 a0003c0003t0001g0147 a0003c0003t0001g0148 a0003c0003t0001g0213 a0003c0003t0001g0214 a0003c0003t0001g0215 a0003c0003t0001g0216 a0003c0003t0001g0218 a0003c0003t0001g0264 a0003c0003t0001g0273 a0003c0003t0001g0290 a0003c0003t0001g0291 a0003c0003t0001g0294 a0003c0003t0001g0295 a0003c0003t0001g0297 a0003c0003t0001g0298 a0003c0003t0003g0021 a0003c0003t0003g0022 a0003c0003t0003g0062 a0003c0003t0003g0063 a0003c0003t0003g0064 a0003c0003t0003g0066 a0003c0003t0003g0067 a0003c0003t0003g0068 a0003c0003t0003g0070 a0003c0003t0003g0073 a0003c0003t0003g0276 a0003c0003t0004g0086 a0003c0003t0004g0087 a0003c0003t0006g0210 a0003c0009t0001g0018 a0003c0009t0001g0050 a0003c0009t0001g0193 a0003c0009t0001g0194 a0003c0038t0001g0169 a0008c0017t0001g0288 a0008c0017t0001g0289 a0012c0026t0001g0211	70	406	0.1724	-171	c.185 others(17): Show c.1855+215_1855+385del	CDH15	ENSG00000129910.8	transcript	ENST00000289746.3	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDK12_chr17_39456486_39539544	39498873	CTCTTTCT others(164): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	260	0.0039	-171	c.242 others(19): Show c.2420-2375_2420-2205del	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CELF2_chr10_11012872_11341675	11284716	GAGAGGAT others(164): Show GAGAGGATAATGGATGGATGGGTGGGTGGATGGATAGATAGTTGGGTAGA TATGTGGGTGGATGGATGGATGGTGGATGGATGGTGGGCGGATGATGGAT GGATGGGTGGGAGAATAATGGATGGATGGGTGGATGATAGGTGAGTGGAT GGATGGATAGTTGGGTAGATGT	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0044 a0001c0003t0044	a0001c0003t0044g0194 a0001c0003t0044g0194	1	194	0.0052	-171	c.842 others(17): Show c.842-3701_842-3531del	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	8/12			chr10	TogoVar
CLIC4_chr1_24740447_24849321	24799776	TGCCCCGT others(164): Show TGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCCGGGGGGGGGGGT CAGCCCCCCCACCTGGCCAGCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0206 a0001c0001t0002g0206	1	344	0.0029	-171	c.182 others(17): Show c.182+2031_182+2201del	CLIC4	ENSG00000169504.15	transcript	ENST00000374379.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNTNAP2_chr7_146111801_148425998	147084239	AATACATA others(164): Show AATACATATATGCATAATGCTATATATGTATATATAATACATATATGCAT AATGCTATATATGTATATATAATCCATATATGCATAATGCTATATATGTA TATATAATATATGCATAATGCTATATATGTATATATAATATATGCATAAT GCTATATATGTATATATAATAC	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0001 a0001c0001t0018g0001	1	40	0.0250	-171	c.551 others(19): Show c.551-23904_551-23734del	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
COA1_chr7_43634257_43734523	43725442	ATCAAGCC others(164): Show ATCAAGCCAAGGGGAAAGAATGAAATCTTGGCCATTATATGTAAACAGAG AGATGCAATTTTTTTCTGGAAGCTATTGTATATCACTTTCCTTAGATTCT CAAAATGCTCAGTTTCTAAAAATACTTTTACTACTGGCTGGGCGCAATGG CTCATGCCTATAACCCCAGCAC	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0357 a0001c0001t0001g0357	1	384	0.0026	-171	c.-39 others(17): Show c.-39+3816_-39+3986del	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
CPNE7_chr16_89570758_89602246	89587924	GCGTGTCA others(164): Show GCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCACAGATACACGG CCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCACAGATACA CGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTG TTACCCACAGATACACGGCCCC	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01106.hp1 HG04228.hp1 others(1): Show HG00323.hp2 HG01106.hp1 HG04228.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0093 others(1): Show a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0093 a0001c0009t0001g0011	4	348	0.0115	-171	c.928 others(15): Show c.928-723_928-553del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CSF2RA_chrX_1263814_1314935	1314280	CCCACTGC others(164): Show CCCACTGCATCTGCCCAACCACTCTGTGCCTGCCCAACCACACTGCACCT GCCCAACCCCACTGCGCCTGCCCAACCCCACTGCATCTGCCCAACCACTC TGTGCCTGCCCAACCACACTGCACCTGCCTAACCGTACTGCACCTGCCCA ACCGCACTGCACTTGCCCAATT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0003 a0002c0003t0001g0003	1	159	0.0063	-171	c.48 others(11): Show c.4802_*4972del	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4346		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314535	ACCTGCCC others(164): Show ACCTGCCCAATCCCACTGCACCTGCCCAATCCCACTGCACCTGCCCAACC CCACTGCACCTGCCCAACCCCACTGCACCTGCCCAACCACACTGAACCTG CTCAACCCCACTTCACCTGCCCAACTGCACTGCACTTGCCCAACCCCTCT GTGCCTGCCCAACCCCACTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp2 NA20300.hp2 HG01167.hp1 HG01169.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0003 a0002c0004t0004 a0001c0002t0003 a0002c0004t0004	a0001c0002t0003g0111 a0001c0002t0003g0119 a0002c0004t0004g0023 a0001c0002t0003g0111 a0001c0002t0003g0119 a0002c0004t0004g0023	3	159	0.0189	-171	c.50 others(11): Show c.5057_*5227del	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4601		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314621	CCACACTG others(164): Show CCACACTGAACCTGCTCAACCCCACTTCACCTGCCCAACTGCACTGCACT TGCCCAACCCCTCTGTGCCTGCCCAACCCCACTGTGCCTGCCCAATCGCA CTGCACCTGCCCAATCCCACTGCACCTGCCCAATCCCACTGCACCTGCCC AATCCCACTGCACCTGCCCAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG01070.hp1 HG01169.hp1 others(7): Show HG00408.hp1 HG01070.hp1 HG01169.hp1 HG01175.hp2 HG01981.hp1 HG02165.hp1 HG02897.hp2 HG03491.hp2 NA18982.hp1 NA19087.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0003 a0009c0013 a0001c0001 a0002c0003 a0009c0013	a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 others(3): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0002c0003t0002 a0002c0003t0004 a0009c0013t0003	a0001c0001t0003g0090 a0001c0001t0003g0113 a0001c0001t0004g0012 others(7): Show a0001c0001t0003g0090 a0001c0001t0003g0113 a0001c0001t0004g0012 a0001c0001t0004g0019 a0001c0001t0004g0065 a0001c0001t0008g0120 a0002c0003t0002g0030 a0002c0003t0002g0145 a0002c0003t0004g0088 a0009c0013t0003g0153	10	159	0.0629	-171	c.51 others(11): Show c.5143_*5313del	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4687		chrX	TogoVar
DGKB_chr7_14140049_14907751	14211447	ATTTACTC others(164): Show ATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACT CTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTT TTGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGA TTTTACTCTCATGTTTTGTGAT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18988.hp2 HG00558.hp2 NA18988.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0004 a0001c0004t0001 a0001c0004t0004	a0001c0004t0001g0026 a0001c0004t0004g0113 a0001c0004t0001g0026 a0001c0004t0004g0113	2	148	0.0135	-171	c.212 others(21): Show c.2123-33467_2123-33297del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DHRSX_chrX_2214506_2505976	2296558	TAGGAATA others(164): Show TAGGAATAGGACCCAGGCAGATAGGAATAGGACCCAGGCAGATAGACCCC AGGCAGATAGGAATAGGACCCAGGCAGATAGGAATAGGACCCAGGCAGAT AGACCCCAGGCAGATAGGAATAGGACCCAGGCAGATAGGAATAGGACCCA GGCAGATAGACCCCAGGCAGAC	T T	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	50	0.0200	-171	c.287 others(17): Show c.287-5126_287-4956del	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
ENOSF1_chr18_665318_717630	667400	TGATGGTG others(164): Show TGATGGTGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTGATGGTG ATGGTGATGATGGAGATGGTGATGGTGATGGTGATGGTGATGGTGATGGA GATGGTGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTGATGGTGA TGGAGATGGTGATGGTGATGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0236 a0001c0001t0020g0236	1	418	0.0024	-171	c.67 others(11): Show c.6734_*6904del	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		2917		chr18	TogoVar
EPHA5_chr4_65314567_65675489	65531476	CATGATCC others(164): Show CATGATCCAGGAATCTGATCATAAAGAGGATATACTGAGATGTCTTTGCA GAATGACCATGATCCAGGAATCTGATCATAAAGAGGATATACTGAGATGT CTTTGCAGAATGACAATGATCCAGGAATCTGATGATAAAGAGGATATACT GAGATGTCTTTGCAGAATGACA	C C	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01978.hp1 HG01943.hp2 HG01978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0040 a0001c0002t0002g0171 a0001c0002t0001g0040 a0001c0002t0002g0171	2	234	0.0086	-171	c.911 others(19): Show c.911-36104_911-35934del	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16			chr4	TogoVar
ERICH1_chr8_659200_736224	696465	TCCTCCCC others(164): Show TCCTCCCCATCAGCCTGCGCTCGCTCCTCTCACCCTCTCTCCCTCTCCTT CCTCCCCATCAGCCTGTGCGCGCTCCTCACACCCTCCCTCTCCTTCCTCC CCATCAGCCTGTACTCGCTCCTCTTACCCTCCACTCCTTCCTCCCCATCA GCCTGCGCTCGCTCCTCTCACC	T T	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02055.hp1 HG02886.hp1 HG01952.hp1 HG02055.hp1 HG02886.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0004 a0001c0003t0001 a0001c0003t0004	a0001c0003t0001g0218 a0001c0003t0001g0224 a0001c0003t0004g0229 a0001c0003t0001g0218 a0001c0003t0001g0224 a0001c0003t0004g0229	3	378	0.0079	-171	c.170 others(17): Show c.170-4024_170-3854del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
EXOC2_chr6_480154_698139	501145	TATTATAT others(164): Show TATTATATATATCTATATATATTATATATATCTATATATTATATATATCT ATATATATTATATATATATTATATATATCTATATATATTATATATATCTA TATATATTATATATATCTATATATTATATATATCTATATATATTATATAT ATCTATATATTATATATATCTA	T T	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0044 a0001c0002t0012g0044	1	272	0.0037	-171	c.238 others(19): Show c.2381-1616_2381-1446del	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
FAM171A1_chr10_15206643_15376289	15229708	TCATCACC others(164): Show TCATCACCACCATCACCATCATCACCATCACCCCCATCACCATCATCACC ATCACCACCATCACCATCATCACCATCACCACCATCACCATCATCACCAT CACCACCACCATCACCATCATCATCATCACCACCATCACCATCATCACCA TCACCCCCATCACCATCATCAC	T T	intron_variant intron_variant	MODIFIER	HG03492.hp2 NA20905.hp2 HG03492.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0203 a0001c0001t0001g0179 a0001c0001t0001g0203	2	303	0.0066	-171	c.755 others(17): Show c.755-8819_755-8649del	FAM171A1	ENSG00000148468.17	transcript	ENST00000378116.9	protein_coding	5/7			chr10	TogoVar
FOXN3_chr14_89151177_89422233	89360793	CCACCACC others(164): Show CCACCACCTCCAGCACCACCTCCACCACCACCTCCACCACTACCACCTCC AGCACCACCTCCACCACCACCTCCACCACCACCTCCACCACCACCTCCAC CACCACCACCTCCACCACCACCACCTCCAGCACCACCTCCACCACCACCA CCTCCACCACCACCACCTCCAG	C C	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0108 a0001c0001t0005g0108	1	230	0.0044	-171	c.544 others(18): Show c.544-10156_544-9986del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361850	GCACTACC others(164): Show GCACTACCTCCACCACCACCACCTCCAGCACCACCTCCACCACCACCTCC ACCACTACCACCTCCAGCACCACCACCTCCAGCACCACCTCCACCACTAC CACCTCCAGCACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCA CCACCTCCACCACCACCTCCAC	G G	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0165 a0001c0001t0051g0165	1	230	0.0044	-171	c.544 others(19): Show c.544-11213_544-11043del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89362443	TCCAGCAC others(164): Show TCCAGCACCAGCTCCACCACCTCCTCCTCCACCACCACCACCACCACCAC CACCATCTCCACCACCACCACCACCATCTCTACGACCACCACCACCACCA TCTCCACCACCACCTCCACCACCACCACCACCACCATCTCTACGACCACC ACCACCACCACCATCTCTACGA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA19009.hp2 HG02451.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0048 a0001c0001t0004 a0001c0001t0048	a0001c0001t0004g0066 a0001c0001t0048g0038 a0001c0001t0004g0066 a0001c0001t0048g0038	2	230	0.0087	-171	c.544 others(19): Show c.544-11806_544-11636del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
GPHN_chr14_66503147_67186803	66828776	CTCCAGGT others(164): Show CTCCAGGTCTATTAAAAATGAGAATAGAATATCAAGTATAGTAAAGTTTA TCTTCTTTATTATATATTTTATAGGAATAGGGCTATCAGAATTGATTTTC CTAAATTATGAATTTGTTTATATTTTTAGGCCCTGCATCATAGAATATGG TTCATCTGATACTTGCATGCCT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02809.hp2 HG02897.hp1 HG01433.hp1 HG02809.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0005g0102 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0005g0102	3	234	0.0128	-171	c.294 others(17): Show c.294+4213_294+4383del	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GPR157_chr1_9095305_9134102	9123587	ATATTAAT others(164): Show ATATTAATGTATATTTAATATATATTTAAAATTAAATATATTTTAAATAT ACATTAATATTAAATATATATTAAATATATATTTAATATTAAATATATAT TTAATATATATTTAATTTTAAATATGTATTTATATATAATTTTAAATATA TATTTAATATTATATATTTAAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	404	0.0025	-171	c.383 others(17): Show c.383+4887_383+5057del	GPR157	ENSG00000180758.12	transcript	ENST00000377411.5	protein_coding	1/3			chr1	TogoVar
GRIN1_chr9_137134154_137173756	137145021	GGTGGGGA others(164): Show GGTGGGGACAGGAGTGAGAGGAAGGGGGTCCCAGGGTCCAGAAAGTGTCC CCAGAGGGGTGGGGACCGGGGTGAGAGGAAGGGGGTCCCAGGGTCTAGAA AGTGTCCCCAGAGGGGTGGGGACCGGGGTGAGAGGAAGGGGGTCCCAGGG TCTAGAAAGTGTCCCCAGGGGT	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0261 a0001c0007t0001g0261	1	298	0.0034	-171	c.394 others(15): Show c.394-696_394-526del	GRIN1	ENSG00000176884.17	transcript	ENST00000371561.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
GRIN1_chr9_137134154_137173756	137145033	AGTGAGAG others(164): Show AGTGAGAGGAAGGGGGTCCCAGGGTCCAGAAAGTGTCCCCAGAGGGGTGG GGACCGGGGTGAGAGGAAGGGGGTCCCAGGGTCTAGAAAGTGTCCCCAGA GGGGTGGGGACCGGGGTGAGAGGAAGGGGGTCCCAGGGTCTAGAAAGTGT CCCCAGGGGTGTGGGGACCGGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00423.hp2 others(73): Show HG00099.hp2 HG00140.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG01069.hp2 HG01071.hp1 HG01175.hp2 HG01255.hp2 HG01346.hp2 HG01496.hp2 HG01891.hp1 HG01928.hp1 HG01952.hp2 HG01993.hp1 HG01993.hp2 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02145.hp2 HG02273.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03688.hp1 HG03831.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18943.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18964.hp1 NA18966.hp1 NA18985.hp1 NA19004.hp1 NA19007.hp2 NA19012.hp1 NA19043.hp1 NA19060.hp1 NA19060.hp2 NA19087.hp2 NA19090.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0004t0001 a0001c0005t0001 a0001c0005t0002 a0001c0008t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0013 others(68): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0105 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0187 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0267 a0001c0001t0001g0273 a0001c0001t0003g0015 a0001c0001t0004g0119 a0001c0002t0001g0145 a0001c0004t0001g0040 a0001c0004t0001g0085 a0001c0004t0001g0086 a0001c0004t0001g0087 a0001c0005t0001g0078 a0001c0005t0002g0022 a0001c0008t0001g0225	76	298	0.2550	-171	c.394 others(15): Show c.394-639_394-469del	GRIN1	ENSG00000176884.17	transcript	ENST00000371561.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
HGSNAT_chr8_43135464_43207855	43179967	TCTGGCCG others(164): Show TCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGAGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGACCCCCCCCCCCACC GCCTCCCTCCCGGATGGGGCGG	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0169 a0001c0001t0008g0169	1	234	0.0043	-171	c.101 others(19): Show c.1012+1801_1013-1940del	HGSNAT	ENSG00000165102.15	transcript	ENST00000379644.9	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr8	TogoVar
HIC2_chr22_21412371_21456463	21425573	GCCCTGTC others(164): Show GCCCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGCTGACTGCAAC CTCCGCCTCCTGGGTTCAAGCGATTCTCCTACCCCAGCCTCCCGAGTAGC TGGGATTACAGGCGCCTGCCACCACGCCTGGTTAATTTTTTCTTTTTTTT TTTTTTTTGAGACGGAGTCTTT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 NA18971.hp2 HG00323.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0065 a0001c0001t0002g0039 a0001c0001t0002g0065	2	288	0.0069	-171	c.-74 others(17): Show c.-74+8044_-74+8214del	HIC2	ENSG00000169635.10	transcript	ENST00000407464.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr22	TogoVar
INSYN1_chr15_73730458_73758351	73744891	GAGCTGGG others(164): Show GAGCTGGGACCAGAGGGTGAGTCTTGACTCCTGGGCATTGCACCTTAAGA CCAAGAATGACTTGCTCTGAAGAGACCAAGAGGGAGCCCTAGAGAGCAAG GGCAGGACTGAGGGCTGTGGCAGAACCTGCAAACCTCGTGCCAGAGGTGT CCCCAACCTCTGTCCTGGTCAC	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01106.hp2 HG01261.hp2 others(30): Show HG00558.hp1 HG01106.hp2 HG01261.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG02027.hp1 HG02040.hp1 HG02129.hp1 HG02155.hp1 HG02523.hp1 HG02683.hp2 HG02735.hp1 HG03688.hp1 HG03704.hp1 HG03834.hp2 HG04184.hp1 HG04199.hp1 NA18942.hp1 NA18950.hp1 NA18991.hp1 NA19005.hp2 NA19011.hp1 NA19055.hp2 NA19056.hp2 NA19063.hp2 NA19065.hp2 NA19070.hp2 NA19074.hp1 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0009 a0001c0002t0015 others(5): Show a0001c0002t0001 a0001c0002t0009 a0001c0002t0015 a0001c0002t0039 a0001c0002t0049 a0001c0002t0082 a0001c0002t0088 a0001c0002t0093	a0001c0002t0001g0006 a0001c0002t0001g0013 a0001c0002t0001g0155 others(17): Show a0001c0002t0001g0006 a0001c0002t0001g0013 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0197 a0001c0002t0009g0054 a0001c0002t0009g0153 a0001c0002t0009g0195 a0001c0002t0009g0196 a0001c0002t0009g0199 a0001c0002t0015g0059 a0001c0002t0015g0198 a0001c0002t0039g0157 a0001c0002t0039g0159 a0001c0002t0049g0086 a0001c0002t0082g0147 a0001c0002t0088g0158 a0001c0002t0093g0160	33	406	0.0813	-171	c.157 others(17): Show c.157-4420_157-4250del	INSYN1	ENSG00000205363.7	transcript	ENST00000569673.3	protein_coding	2/2			chr15	TogoVar
ITIH5_chr10_7554270_7671966	7667114	CCCAGCCC others(164): Show CCCAGCCCGGACCCCGCCCACCCTGCGGTCCCCTCCTGGACTCCGCCCAC CCCACGGACCCAGCCCGGACCCCGCCCACCCCACGGACCCAGCCCGGACC CCGCCCACCCCGCGTCCCAGCCCGGACCCCGCCCACCCCACGGACCCAGC CCGGACCCCGCCCACCCTGCGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0337 a0003c0005t0001g0337	1	342	0.0029	-171	c.-39 others(9): Show c.-393_-223del	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding		149		chr10	TogoVar
JPH2_chr20_44101590_44192188	44134443	AAATATAT others(164): Show AAATATATATTTATTATAAATATATATAAATATATATTTATAATATATAT TTATTATATATAAATAATATATATTTATAATAAATATATATAAATAAATA TATATTTATAATATATATAAATAAATATATATTTATTATAAATATATATA AATATATATTTATTATAAATAT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02809.hp2 HG02976.hp1 others(1): Show HG01261.hp2 HG02809.hp2 HG02976.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0006 a0002c0002t0003 a0002c0002t0006	a0002c0002t0003g0052 a0002c0002t0003g0053 a0002c0002t0003g0054 others(1): Show a0002c0002t0003g0052 a0002c0002t0003g0053 a0002c0002t0003g0054 a0002c0002t0006g0174	4	338	0.0118	-171	c.117 others(21): Show c.1170-15991_1170-15821del	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
KANK1_chr9_499695_751103	708039	GTTTCAGA others(164): Show GTTTCAGACAGTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGT TAATGGAGTTTCAGACAGTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCT CTCCTGTTAATGGAATTTCAGACAGTCCTGGAGACAGGTCTGGCTGCTGC AGCTTCTCTCCTGTTAATGGAA	G G	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0030 a0030	a0030c0047 a0030c0047	a0030c0047t0002 a0030c0047t0002	a0030c0047t0002g0212 a0030c0047t0002g0212	1	254	0.0039	-171	c.38- others(15): Show c.38-2708_38-2538del	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KASH5_chr19_49383249_49422990	49386872	GGGGGAGG others(164): Show GGGGGAGGAGAGGAGCAGAGGGGAAGAGAGGGGGAGGGGAGGGGAAGGTA CGGGGGAGGGGAGATGAGGGGAGGGGAGTGGGGGAAGGGGAGGACAGGAG CAGAAGGGAAGGGAGGCGGGAGGGGAGGGGAAGGTACGGGGGAGGGGAGA TGAGGGGAGGGGAGTGGGGGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02965.hp1 HG02976.hp1 others(6): Show HG02572.hp1 HG02965.hp1 HG02976.hp1 HG03098.hp2 HG03130.hp2 HG03471.hp2 NA18522.hp2 NA19240.hp1 NA20129.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0005 a0002c0007 others(1): Show a0001c0001 a0001c0005 a0002c0007 a0006c0017	a0001c0001t0007 a0001c0005t0008 a0001c0005t0010 others(2): Show a0001c0001t0007 a0001c0005t0008 a0001c0005t0010 a0002c0007t0005 a0006c0017t0007	a0001c0001t0007g0155 a0001c0001t0007g0157 a0001c0005t0008g0154 others(6): Show a0001c0001t0007g0155 a0001c0001t0007g0157 a0001c0005t0008g0154 a0001c0005t0008g0158 a0001c0005t0008g0160 a0001c0005t0010g0051 a0002c0007t0005g0311 a0002c0007t0005g0312 a0006c0017t0007g0164	9	354	0.0254	-171	c.-15 others(11): Show c.-1550_-1380del	KASH5	ENSG00000161609.10	transcript	ENST00000447857.8	protein_coding		1376		chr19	TogoVar
KCNC2_chr12_75035078_75214839	75104466	GGAGGGCT others(164): Show GGAGGGCTATTGTATAAAGATCAGTACAGCACATTTCCTCCCAAAACAGT ACCCAAGAGAAACAATATTAATGAGTATATTCAAATGAGTTCAGTAGCCG CCAATATACTTTAATTCTGAGCATGGTTTTAAAATATTACTAGTTCATAC ACAAATTTAACCATCATAATAA	G G	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	316	0.0032	-171	c.688 others(19): Show c.688-53320_688-53150del	KCNC2	ENSG00000166006.14	transcript	ENST00000549446.6	protein_coding	2/4			chr12	TogoVar
KCNQ2_chr20_63395208_63477655	63455930	TCACGGGC others(164): Show TCACGGGCCCCCCACCTCCGGGAGGCCCCTCTGCTCACGGGCCCCCCACC TCCGGGAGGCCCCTCTGCTTCACGGGCCCCCCACCTCCGGGAGGCCCCTC TGCTCACGGGCCCCCCACCTCCGGGAGGCCCCTCTGCTTCACGGGCCCCC CACCTCCGGGAGGCCCCTCTGC	T T	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19064.hp1 NA19007.hp1 NA19064.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0067 a0002c0001t0001 a0002c0001t0067	a0002c0001t0001g0114 a0002c0001t0067g0115 a0002c0001t0001g0114 a0002c0001t0067g0115	2	330	0.0061	-171	c.297 others(17): Show c.297-9264_297-9094del	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	1/16			chr20	TogoVar
KLHL11_chr17_41843518_41870423	41865880	GTTTTTTT others(164): Show GTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGT GCAGTGGCGCGCTCTTCGCTTATTGCAACCTCCGCTGCCCGGGTTCAAGC GATTCTTGTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCA CCACTCCAGGCTAATTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02738.hp2 HG03130.hp1 others(2): Show HG01243.hp2 HG02738.hp2 HG03130.hp1 HG03669.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0090 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0090 a0001c0002t0002g0025	5	366	0.0137	-171	c.-68 others(9): Show c.-681_-511del	KLHL11	ENSG00000178502.6	transcript	ENST00000319121.4	protein_coding		458		chr17	TogoVar
KLHL11_chr17_41843518_41870423	41865965	TGCCCGGG others(164): Show TGCCCGGGTTCAAGCGATTCTTGTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACCACTCCAGGCTAATTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGCTC TTCGCTTATTGCAACCTCCGCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0008 a0001c0002t0005g0008	1	366	0.0027	-171	c.-76 others(9): Show c.-766_-596del	KLHL11	ENSG00000178502.6	transcript	ENST00000319121.4	protein_coding		543		chr17	TogoVar
KY_chr3_134594923_134656022	134615531	ACCAGCTC others(164): Show ACCAGCTCTTTTGTAAATCAAGATTTTGTTTTGATCTATACACTTGTAGG TGGTATAGAGAGTGAAATGGAAAGGTGGTTTGCACCAGTGACATAACTCA TCTTTGTGAGTGCCATCCTTTGGTGTAGCTATAAGGGTGGGGGAGCTAAG ATGTCCCTTTCAGAGGCCTTAT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02809.hp1 HG01496.hp2 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0094 a0001c0002t0002g0095	2	294	0.0068	-171	c.710 others(17): Show c.710+3446_710+3616del	KY	ENSG00000174611.12	transcript	ENST00000423778.7	protein_coding	8/10			chr3	TogoVar
LHPP_chr10_124456823_124619141	124507060	GTAGGGGT others(164): Show GTAGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGC AGGGGTAGACAGGATTTCAGGTCGGGGGGTTAGAGAGGATTTCAGGTGGG AGGGTAGGCAGGATTTCAGGTCAGGGGGATAGACAGGATTTCAGGTGGGG GGATAGGGAAGATTTCAGGTGT	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	260	0.0039	-171	c.624 others(17): Show c.624+8933_624+9103del	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6			chr10	TogoVar
LHPP_chr10_124456823_124619141	124507108	GCAGGGGT others(164): Show GCAGGGGTAGACAGGATTTCAGGTCGGGGGGTTAGAGAGGATTTCAGGTG GGAGGGTAGGCAGGATTTCAGGTCAGGGGGATAGACAGGATTTCAGGTGG GGGGATAGGGAAGATTTCAGGTGTGGAGGGTAGGCAGGATTTCAGGTCGG GGGGGTAGACAGGATTTCAGGT	G G	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG03669.hp1 HG04184.hp1 others(4): Show HG01515.hp2 HG03669.hp1 HG04184.hp1 HG04204.hp2 NA18980.hp1 NA19012.hp1 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0065 a0001c0001t0001g0157 a0001c0001t0001g0172 others(4): Show a0001c0001t0001g0065 a0001c0001t0001g0157 a0001c0001t0001g0172 a0002c0002t0001g0023 a0002c0002t0001g0120 a0002c0002t0001g0151 a0002c0002t0001g0251	7	260	0.0269	-171	c.624 others(17): Show c.624+8981_624+9151del	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6			chr10	TogoVar
LRRC27_chr10_132327193_132386508	132358899	GAGCAGTG others(164): Show GAGCAGTGTGGGGAGGAGCCGAGGTGGTAGAGCAGTGTGGGGAGGAGCCA AGGTGGTGGAGTGTGGGGAGGAGCCGAGGTGGTGGAGCGTGGGAAGGAGC CGAGGTGGTGGAGCAGCGTGGGGAGGAGCCGAGGTGATGGAGCAGTGTGG GGAGGAGCCGAGGTGGTGGAGC	G G	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0042 a0001c0002t0042	a0001c0002t0042g0265 a0001c0002t0042g0265	1	290	0.0035	-171	c.117 others(19): Show c.1171-2554_1171-2384del	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LY6E_chr8_143013529_143027409	143015549	GGAGGAGG others(164): Show GGAGGAGGGAGTCCCGTGTGAGGAGGAGGGAGTCCCGTGTGAGGAGGAGG GAGTCCTGTGTGAGGAGGAGGGAGTCCCGTGTGAGGAGGAGGAGGGAGTC CTGTGTGAGGAGGAAGGAGTCCCATGTGAGGAGGAGGAGGGAGTCCTGTG TGAGGAGGAGGGAGTGCTGTGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01255.hp2 HG02258.hp1 others(17): Show HG01192.hp2 HG01255.hp2 HG02258.hp1 HG02572.hp1 HG02622.hp2 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG03098.hp1 HG03225.hp1 HG03486.hp1 HG03688.hp2 HG06807.hp2 NA18992.hp2 NA18993.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0005g0002	20	377	0.0531	-171	c.-30 others(11): Show c.-3094_-2924del	LY6E	ENSG00000160932.11	transcript	ENST00000292494.11	protein_coding		2979		chr8	TogoVar
MAEA_chr4_1284891_1345137	1333705	CCCTTGCC others(164): Show CCCTTGCCCACCCCCATGCCCGTGCTCACCTCTGCACCCACCCCATGCCC ACCCCCATGCCCACCTGTGCTCACCCCCATGCCCACTCCCGTGCCCATGT GCCCACCCCTGCACCCACCCCATGCCCACCGTGTGCTCACCCCCCTGCCC ACCCCCATGCCCGTGCTCACCT	C C	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	388	0.0026	-171	c.765 others(16): Show c.765+842_765+1012del	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1333836	TGTGCTCA others(164): Show TGTGCTCACCCCCCTGCCCACCCCCATGCCCGTGCTCACCTCTGCACCCA CCCCATGCCCACCCCCATGCCCACCTGTGCTCACCCCCATGCCCACTCCC GTGCCCATGTGCCCACCCCTGCACCCACCCCCATGCCCGTGTGCTCACCC CTGCACCCATCCCATGCCTACC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG00558.hp2 others(20): Show HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00733.hp2 HG01069.hp1 HG01071.hp1 HG02040.hp2 HG02071.hp2 HG02083.hp2 HG02155.hp1 HG02738.hp2 HG03516.hp1 HG04204.hp1 NA18747.hp2 NA18943.hp2 NA18983.hp1 NA18990.hp2 NA18993.hp2 NA18999.hp2 NA19054.hp1 NA19056.hp1 NA19074.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0011t0001	a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0002t0001g0080 others(20): Show a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0096 a0001c0002t0001g0100 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0119 a0001c0002t0001g0121 a0001c0002t0001g0165 a0001c0002t0003g0083 a0001c0002t0003g0084 a0001c0002t0003g0091 a0001c0002t0003g0116 a0001c0011t0001g0166	23	388	0.0593	-171	c.765 others(16): Show c.765+984_765+1154del	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP3K15_chrX_19355059_19520508	19452210	GAAGAGAA others(164): Show GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAAGAGAAG AGAAGAGAAGAGAAGAGAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02486.hp1 HG02280.hp2 HG02486.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0005 a0002c0003t0003 a0002c0003t0005	a0002c0003t0003g0128 a0002c0003t0005g0018 a0002c0003t0003g0128 a0002c0003t0005g0018	2	163	0.0123	-171	c.995 others(17): Show c.995+4532_995+4702del	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28			chrX	TogoVar
MAP4K1_chr19_38582641_38622953	38584366	GCCTGTGC others(164): Show GCCTGTGCCCCACTATCCTGGCCCTAACCTCTCAGCCTGTACCCTCCATC CTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCC TTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCC CATGCTAGCCCTGACCCCTCTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0247 a0001c0002t0001g0247	1	348	0.0029	-171	c.32 others(11): Show c.3211_*3381del	MAP4K1	ENSG00000104814.13	transcript	ENST00000396857.7	protein_coding		3274		chr19	TogoVar

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Search Results (Total: 10000 hits)