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
BOP1_chr8_144257045_144296438	144281204	TCTCAGTT others(293): Show TCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGTC TTCGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCACTTTC ATACCAGGTCTTTGGCCTTCTCTCAGTTTAATACCAGGTCTTCGGCCTTC CCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGTC TTCGGCCTTCTCTCACTTTCATACCAGGTCTTTGGCCTTCTCTCAGTTTA ATACCAGGTCTTCGGCCTTCTCTCACTTTCATACCAGGTCTTTGGCCTTC C	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp2 HG01168.hp1 others(6): Show HG01099.hp1 HG01099.hp2 HG01168.hp1 HG01169.hp1 HG03831.hp1 NA18969.hp1 NA18990.hp2 NA18995.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0089 others(5): Show a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0089 a0001c0001t0001g0141 a0001c0001t0001g0246 a0001c0001t0001g0249 a0001c0001t0001g0309 a0001c0001t0001g0319	9	398	0.0226	-300	c.310 others(17): Show c.310-5200_310-4901del	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
C1orf159_chr1_1076823_1121089	1077061	GGGGAGGC others(293): Show GGGGAGGCTGAGGCTACGGGGACTCCGTGCCGGGAGGCTGAGGCTACGGG GACTCCGTGCGGGGAGGCTGAGTCTACGGGGACTCCGTGAGGGGTGGCTG AGTCTATGGGGACTCCGTGCGGGGAGGCTGAGTCTATGGGGACTCCGTGC GGGGTGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGG GACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTG AGTCTATGGGGACTCTGTGCCGGGAGGCTGAGGCTACGGGGACTCCGTGC C	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG03209.hp1 NA19240.hp2 HG02145.hp2 HG03209.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0081 a0001c0002t0003g0110 a0001c0002t0003g0111 a0001c0002t0003g0081 a0001c0002t0003g0110 a0001c0002t0003g0111	3	326	0.0092	-300	c.55 others(11): Show c.5532_*5831del	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		4761		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078681	CGGGAGGC others(293): Show CGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGGCTATGGGCACTCCGTGGGGGGAGGCTG AGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGA GGGGTGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTG AGGCTATGGGGACTCCGTGCGGGGTGGCTGAGGCTATGGGGACTCCGTGG G	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02055.hp2 HG02145.hp1 others(4): Show HG01243.hp2 HG02055.hp2 HG02145.hp1 HG02451.hp2 HG02630.hp1 HG03453.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0019 a0001c0001t0006 a0001c0001t0019	a0001c0001t0006g0039 a0001c0001t0006g0067 a0001c0001t0006g0101 others(4): Show a0001c0001t0006g0039 a0001c0001t0006g0067 a0001c0001t0006g0101 a0001c0001t0006g0228 a0001c0001t0006g0294 a0001c0001t0006g0305 a0001c0001t0019g0308	7	326	0.0215	-300	c.39 others(11): Show c.3912_*4211del	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3141		chr1	TogoVar
CABLES1_chr18_23130485_23265470	23246567	GTTTTTAG others(293): Show GTTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTTGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTAT ATGCTTGAGCCACCGCACCCGGCCAGTTTTTTCGTTTTTGTTTTTGAGAC AGTCTCACTCTGTCACCCAGGCTAGAGAGCAGTGGCACCATCTTGGCTCA CTTCAATCTTCATCTCCCAGGTTCAAGCGATTCTTCCTGCCTTAGCCTCC CAAGTAGCTGAGGCTATAGGCATGCACCACCACGCCCAGCTAATTTTTGT A	G G	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0126 a0001c0001t0019g0126	1	278	0.0036	-300	c.144 others(19): Show c.1447-6379_1447-6080del	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CAMK1D_chr10_12344547_12840545	12775820	AGGTGAGA others(293): Show AGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAA GGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCA GGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAG GCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAG GTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGG CTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGG T	A A	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	214	0.0047	-300	c.565 others(17): Show c.565+6023_565+6322del	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CARD11_chr7_2901142_3048867	2925762	TCTCTCCC others(293): Show TCTCTCCCCACAGCCTTGCACCTCCAAGGTCGGCCTCTCTCCCTGGCCTT GCCTTCCAATGTCGGCCTCTCTCCCCACAGCCTTGCACCTCCAATGTTGG CCTCTCCCTTCAGACTTGTACCTCCAAGGTCGGCCTCTCTTCCTGGCCTT GCCCTTCCAATGTTGGCCTCTCTCCCCACAGCCTTGTACCTCCAAGGTCG GCCTCTCTCCCTGGCCTTGCCCTTCCAATGCTGGCCTCTCCCCACAGCCT TGCACCTCCAATGTTGGCCTCTCCCCACAGTCTTGCACCTCCAATGTTGG C	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00639.hp2 HG00735.hp2 others(52): Show HG00621.hp1 HG00639.hp2 HG00735.hp2 HG01099.hp1 HG01175.hp2 HG01243.hp2 HG01258.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02132.hp2 HG02258.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp2 HG02717.hp2 HG02809.hp1 HG02965.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03453.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03710.hp2 HG04199.hp2 HG04204.hp2 NA18522.hp2 NA18906.hp1 NA18951.hp2 NA18953.hp2 NA18971.hp1 NA18981.hp2 NA18984.hp2 NA18995.hp2 NA19004.hp1 NA19030.hp2 NA19054.hp1 NA19056.hp2 NA19065.hp1 NA19067.hp1 NA19079.hp1 NA19084.hp1 NA19088.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2	a0001 a0011 a0001 a0011	a0001c0003 a0001c0004 a0001c0006 others(11): Show a0001c0003 a0001c0004 a0001c0006 a0001c0010 a0001c0014 a0001c0021 a0001c0023 a0001c0024 a0001c0029 a0001c0031 a0001c0032 a0001c0043 a0001c0051 a0011c0053	a0001c0003t0001 a0001c0004t0001 a0001c0004t0002 others(14): Show a0001c0003t0001 a0001c0004t0001 a0001c0004t0002 a0001c0006t0001 a0001c0006t0004 a0001c0006t0005 a0001c0010t0002 a0001c0014t0001 a0001c0021t0001 a0001c0023t0001 a0001c0024t0001 a0001c0029t0001 a0001c0031t0001 a0001c0032t0001 a0001c0043t0001 a0001c0051t0001 a0011c0053t0001	a0001c0003t0001g0004 a0001c0003t0001g0069 a0001c0004t0001g0022 others(52): Show a0001c0003t0001g0004 a0001c0003t0001g0069 a0001c0004t0001g0022 a0001c0004t0001g0028 a0001c0004t0001g0037 a0001c0004t0001g0043 a0001c0004t0001g0067 a0001c0004t0001g0070 a0001c0004t0001g0111 a0001c0004t0001g0142 a0001c0004t0001g0151 a0001c0004t0001g0173 a0001c0004t0001g0192 a0001c0004t0001g0202 a0001c0004t0001g0226 a0001c0004t0001g0239 a0001c0004t0001g0245 a0001c0004t0001g0257 a0001c0004t0001g0282 a0001c0004t0001g0292 a0001c0004t0001g0304 a0001c0004t0002g0023 a0001c0004t0002g0195 a0001c0004t0002g0258 a0001c0004t0002g0293 a0001c0006t0001g0095 a0001c0006t0001g0128 a0001c0006t0001g0190 a0001c0006t0001g0191 a0001c0006t0001g0259 a0001c0006t0001g0266 a0001c0006t0001g0268 a0001c0006t0004g0305 a0001c0006t0005g0001 a0001c0010t0002g0034 a0001c0010t0002g0059 a0001c0010t0002g0097 a0001c0010t0002g0188 a0001c0010t0002g0283 a0001c0010t0002g0311 a0001c0014t0001g0098 a0001c0014t0001g0114 a0001c0014t0001g0273 a0001c0021t0001g0021 a0001c0021t0001g0050 a0001c0023t0001g0105 a0001c0023t0001g0179 a0001c0024t0001g0211 a0001c0024t0001g0237 a0001c0029t0001g0300 a0001c0031t0001g0063 a0001c0032t0001g0061 a0001c0043t0001g0030 a0001c0051t0001g0203 a0011c0053t0001g0287	55	322	0.1708	-300	c.180 others(17): Show c.1807+677_1807+976del	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	14/24			chr7	TogoVar
CATSPERZ_chr11_64295358_64309770	64308610	ATTGAGAA others(293): Show ATTGAGAACATCCTGGCTAACACGGTGAAACACTGTCTCTACTAAAAATA CAAAAAATTAGCTGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGGTTGCAGT GAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTC CGTCTCAAAAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCATGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACCTGAGGTCAGGAG T	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	392	0.0026	-300	c.39 others(11): Show c.3965_*4264del	CATSPERZ	ENSG00000219435.6	transcript	ENST00000328404.8	protein_coding		3841		chr11	TogoVar
CDK12_chr17_39456486_39539544	39498908	TTTCTTTC others(293): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC C	T T	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0094 a0001c0001t0018g0094	1	260	0.0039	-300	c.242 others(19): Show c.2420-2339_2420-2040del	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CDKAL1_chr6_20529457_21237404	21205783	GGCCTCCC others(293): Show GGCCTCCCAAAGTGCTGGGATTACATGCGTGAGCCCCCGCGCCCAGCCTT TTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCT GGAGTGCAGTGGCGCGATCTTGGCTCACCACAAGCTCCGCCTCCCGGGTT CACGCCATTCTCCTGCCTCAACCTCCCGAATAGCTGGGACTACAGGCACC CGCCACCGCGCCCGGCTAATTTTTTTTTTTTCTTTGTATTTTAGTAGAGA CGGGGTTTCACCATGGTCTCTATCTCCTGACCTTGTGATCCGCCCGCCTT A	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0170 a0001c0002t0003g0170	1	196	0.0051	-300	c.154 others(19): Show c.1548+4534_1548+4833del	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CHMP4C_chr8_81727448_81764515	81728263	GTTTAGAA others(293): Show GTTTAGAAATCAACTTTAAGTAGGTAATGCAATAAGAGTAACATTGAGGT AGGGGGCTATATTTCACTTTAGATCCATTAAATGAAATGGTTTACATTTA AGTCTGATGAACCTTAGGATCTTTTTTTTTTTTTTTTTTTTGAGTTGGAG TCTTGCTCTGCCACCCAGGCTGGAGTGCAGTGGCACGATCTTGGTTCACT GCAACCTCCAACTCCCAGGTGCAAGCAATTCTCCTGCCTCAGCCTCCTGA GCAGCTGGGATTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTGTATT T	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	408	0.0025	-300	c.-43 others(11): Show c.-4363_-4064del	CHMP4C	ENSG00000164695.5	transcript	ENST00000297265.5	protein_coding		4184		chr8	TogoVar
CHST13_chr3_126519155_126548291	126535091	GAGACAGA others(293): Show GAGACAGATAGACAGCATCACTGTCCTCAGCTGGAGACAGACAGACAGCA TCCCTGTCCCCAGCCGGGAGACAGACAGCATCCCTGTCCCCAGCCGGGAG ACAGACAGACAGCATCGCTGTCCCCAGCCGGTAGACAGACAGCATCCCTG TCCTCAGCTGGGAGACAGACAGACAGCATCACTGTCCTCAGCTGGAGAAA GACAGACAGCATCGCTGTCCTCAGCCAGGAGACAGACAGACAGCATCCCT GTCCTCAGCCGGGAGACACACAGACAGCATCGCTGTCCCCAGCTGGTAGA C	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	2	364	0.0055	-300	c.98- others(14): Show c.98-1172_98-873del	CHST13	ENSG00000180767.11	transcript	ENST00000319340.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLIP2_chr7_74284407_74410935	74369855	AAAAAAAA others(293): Show AAAAAAAAAAAAAAAAAAAAAAAATCCAGGCACGGTGGCTCATGCCTGTA ATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGTCAGGAGCT CCAAACCAGCCTGGCTAACATGGCGAAACCCCATCTCTACTAAAAATACA AAAATTAGCTGGGCATAGTGGTGCTTGCCTGTAATTCCAGCTACTCGGAA GGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCTGAGCC AGGCTCCCTCCACTGCACTCCAGCCTGAGTAACAGAGCGAGACTCTGCCT C	A A	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	278	0.0036	-300	c.138 others(19): Show c.1381-3056_1381-2757del	CLIP2	ENSG00000106665.16	transcript	ENST00000223398.11	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL28A1_chr7_7352875_7540873	7502678	AGATATTC others(293): Show AGATATTCCCTTCCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT TGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA AGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG T	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00423.hp1 others(140): Show HG00140.hp2 HG00280.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA19000.hp1 NA19007.hp1 NA19011.hp1 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19063.hp2 NA19067.hp2 NA19068.hp1 NA19084.hp2 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1	a0001 a0002 a0003 others(30): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0034	a0001c0001 a0001c0005 a0001c0007 others(45): Show a0001c0001 a0001c0005 a0001c0007 a0002c0002 a0002c0004 a0002c0031 a0002c0049 a0003c0003 a0003c0047 a0004c0006 a0004c0039 a0005c0010 a0005c0044 a0006c0015 a0006c0019 a0006c0030 a0007c0008 a0007c0032 a0008c0009 a0009c0014 a0009c0029 a0010c0013 a0010c0028 a0011c0012 a0012c0016 a0012c0035 a0013c0011 a0014c0017 a0015c0048 a0015c0052 a0017c0020 a0018c0023 a0019c0024 a0020c0022 a0021c0025 a0022c0026 a0023c0021 a0024c0045 a0025c0046 a0026c0043 a0027c0042 a0028c0036 a0029c0037 a0030c0038 a0031c0033 a0032c0034 a0033c0050 a0034c0040	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(55): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0005t0002 a0001c0007t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0004t0003 a0002c0031t0001 a0002c0049t0003 a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0003c0047t0003 a0004c0006t0002 a0004c0039t0003 a0005c0010t0001 a0005c0010t0002 a0005c0044t0003 a0006c0015t0002 a0006c0019t0002 a0006c0030t0003 a0007c0008t0003 a0007c0008t0006 a0007c0032t0003 a0008c0009t0003 a0009c0014t0001 a0009c0014t0003 a0009c0029t0003 a0010c0013t0002 a0010c0028t0003 a0011c0012t0002 a0012c0016t0002 a0012c0035t0002 a0013c0011t0002 a0014c0017t0003 a0015c0048t0002 a0015c0052t0003 a0017c0020t0001 a0018c0023t0003 a0019c0024t0003 a0020c0022t0002 a0021c0025t0002 a0022c0026t0007 a0023c0021t0002 a0024c0045t0001 a0025c0046t0001 a0026c0043t0007 a0027c0042t0002 a0028c0036t0010 a0029c0037t0001 a0030c0038t0002 a0031c0033t0003 a0032c0034t0003 a0033c0050t0002 a0034c0040t0002	a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0047 others(140): Show a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0082 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0002g0051 a0001c0001t0002g0063 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0171 a0001c0001t0002g0178 a0001c0001t0003g0173 a0001c0001t0005g0011 a0001c0001t0005g0059 a0001c0005t0002g0067 a0001c0005t0002g0069 a0001c0007t0003g0175 a0001c0007t0003g0176 a0001c0007t0003g0177 a0002c0002t0001g0066 a0002c0002t0001g0126 a0002c0002t0002g0004 a0002c0002t0002g0015 a0002c0002t0002g0037 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0139 a0002c0002t0002g0141 a0002c0002t0002g0170 a0002c0002t0002g0182 a0002c0002t0006g0002 a0002c0004t0003g0026 a0002c0004t0003g0027 a0002c0004t0003g0028 a0002c0004t0003g0030 a0002c0004t0003g0032 a0002c0004t0003g0033 a0002c0004t0003g0041 a0002c0004t0003g0068 a0002c0004t0003g0070 a0002c0004t0003g0088 a0002c0004t0003g0186 a0002c0031t0001g0115 a0002c0049t0003g0189 a0003c0003t0001g0073 a0003c0003t0001g0074 a0003c0003t0001g0075 a0003c0003t0001g0076 a0003c0003t0001g0077 a0003c0003t0001g0078 a0003c0003t0001g0079 a0003c0003t0001g0080 a0003c0003t0001g0081 a0003c0003t0001g0083 a0003c0003t0001g0084 a0003c0003t0002g0159 a0003c0003t0004g0193 a0003c0003t0004g0194 a0003c0003t0004g0195 a0003c0003t0004g0196 a0003c0047t0003g0045 a0004c0006t0002g0005 a0004c0006t0002g0006 a0004c0006t0002g0007 a0004c0006t0002g0008 a0004c0006t0002g0184 a0004c0039t0003g0071 a0005c0010t0001g0043 a0005c0010t0001g0092 a0005c0010t0001g0105 a0005c0010t0002g0044 a0005c0044t0003g0039 a0006c0015t0002g0179 a0006c0019t0002g0187 a0006c0019t0002g0188 a0006c0030t0003g0065 a0007c0008t0003g0012 a0007c0008t0003g0013 a0007c0008t0003g0161 a0007c0008t0006g0003 a0007c0032t0003g0014 a0008c0009t0003g0180 a0008c0009t0003g0181 a0008c0009t0003g0183 a0008c0009t0003g0185 a0009c0014t0001g0010 a0009c0014t0003g0021 a0009c0029t0003g0009 a0010c0013t0002g0019 a0010c0013t0002g0022 a0010c0028t0003g0020 a0011c0012t0002g0166 a0012c0016t0002g0016 a0012c0016t0002g0123 a0012c0035t0002g0072 a0013c0011t0002g0035 a0013c0011t0002g0036 a0013c0011t0002g0064 a0014c0017t0003g0057 a0014c0017t0003g0058 a0015c0048t0002g0017 a0015c0052t0003g0191 a0017c0020t0001g0086 a0018c0023t0003g0165 a0019c0024t0003g0167 a0020c0022t0002g0163 a0021c0025t0002g0162 a0022c0026t0007g0164 a0023c0021t0002g0025 a0024c0045t0001g0087 a0025c0046t0001g0142 a0026c0043t0007g0029 a0027c0042t0002g0089 a0028c0036t0010g0001 a0029c0037t0001g0113 a0030c0038t0002g0114 a0031c0033t0003g0031 a0032c0034t0003g0038 a0033c0050t0002g0190 a0034c0040t0002g0040	143	196	0.7296	-300	c.102 others(19): Show c.1026+3036_1026+3335del	COL28A1	ENSG00000215018.10	transcript	ENST00000399429.8	protein_coding	11/34			chr7	TogoVar
CORO2B_chr15_68573993_68732806	68691327	CAAAAAAA others(293): Show CAAAAAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA A	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00738.hp2 HG00741.hp1 others(44): Show HG00280.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01099.hp2 HG01243.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG02004.hp2 HG02109.hp2 HG02145.hp2 HG02451.hp1 HG02451.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03195.hp2 HG03486.hp2 HG03491.hp1 HG03540.hp1 HG03942.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18949.hp2 NA18971.hp2 NA19012.hp2 NA19057.hp1 NA19088.hp1 NA19240.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0021 a0001c0001t0022 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0003t0001 a0001c0003t0006 a0001c0003t0008 a0001c0003t0012 a0001c0004t0005 a0001c0004t0006 a0001c0005t0002 a0001c0005t0003 a0002c0007t0006	a0001c0001t0001g0042 a0001c0001t0001g0104 a0001c0001t0001g0182 others(44): Show a0001c0001t0001g0042 a0001c0001t0001g0104 a0001c0001t0001g0182 a0001c0001t0001g0200 a0001c0001t0001g0210 a0001c0001t0002g0080 a0001c0001t0002g0114 a0001c0001t0004g0017 a0001c0001t0004g0157 a0001c0001t0004g0205 a0001c0001t0005g0007 a0001c0001t0006g0004 a0001c0001t0006g0031 a0001c0001t0006g0187 a0001c0001t0008g0025 a0001c0001t0009g0014 a0001c0001t0009g0238 a0001c0001t0021g0033 a0001c0001t0022g0049 a0001c0002t0001g0005 a0001c0002t0001g0008 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0218 a0001c0002t0002g0044 a0001c0002t0002g0071 a0001c0002t0002g0096 a0001c0002t0002g0116 a0001c0002t0002g0161 a0001c0002t0002g0224 a0001c0002t0002g0230 a0001c0002t0003g0006 a0001c0002t0003g0101 a0001c0002t0003g0198 a0001c0002t0003g0256 a0001c0002t0005g0016 a0001c0002t0006g0175 a0001c0002t0006g0247 a0001c0003t0001g0057 a0001c0003t0006g0051 a0001c0003t0008g0131 a0001c0003t0012g0047 a0001c0004t0005g0233 a0001c0004t0006g0032 a0001c0005t0002g0045 a0001c0005t0003g0109 a0002c0007t0006g0186	47	256	0.1836	-300	c.217 others(17): Show c.217-3796_217-3497del	CORO2B	ENSG00000103647.13	transcript	ENST00000261861.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
CTDP1_chr18_79674803_79759503	79739776	AGGACGGG others(293): Show AGGACGGGTGGGACTCTCATACCCACGGCCGGGACGGGTGGGACTCTCAT ACCCACGGCCGGGACGGGTGGGACTCTCATACCCACGGCCGGGACGGGTG GGACTCTCATACCCACGGCCGGGACGGGTGGGACTCTCATACCCACGGCC GGGACGGGTGGGACTCTCATACCCACGGCCGGGACGGGTGGGACTCTCAT ACCCACGGCCGGGACGGGTGGGACTCTCATACCCACGGCCGGGACGGGTG GGACTCTCATACCCACGGCCGGGACGGGTGGGACTCTCATACCCACGGCC G	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03540.hp2 HG04184.hp1 others(1): Show HG01884.hp1 HG03540.hp2 HG04184.hp1 NA18942.hp1	a0001 a0002 a0013 a0001 a0002 a0013	a0001c0013 a0002c0002 a0013c0027 a0001c0013 a0002c0002 a0013c0027	a0001c0013t0001 a0002c0002t0001 a0013c0027t0001 a0001c0013t0001 a0002c0002t0001 a0013c0027t0001	a0001c0013t0001g0092 a0002c0002t0001g0217 a0002c0002t0001g0275 others(1): Show a0001c0013t0001g0092 a0002c0002t0001g0217 a0002c0002t0001g0275 a0013c0027t0001g0037	4	378	0.0106	-300	c.274 others(19): Show c.2747+3391_2747+3690del	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CYP4F11_chr19_15907377_15939529	15931525	CAGAGGAA others(293): Show CAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGAGGAGAGGAATG AGTGAGCGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAG GAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATG AGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG G	C C	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0305 a0001c0002t0008g0305	1	386	0.0026	-300	c.199 others(17): Show c.199-2224_199-1925del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931901	TGAGGAGA others(293): Show TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG C	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0161 a0004c0007t0161	a0004c0007t0161g0208 a0004c0007t0161g0208	1	386	0.0026	-300	c.198 others(17): Show c.198+2010_199-2301del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931963	AGGAGAGG others(293): Show AGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTG AGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAA TGAGTGAGCGAGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGTG G	A A	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0010 a0002c0001t0010	a0002c0001t0010g0269 a0002c0001t0010g0269	1	386	0.0026	-300	c.198 others(17): Show c.198+1948_198+2247del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932263	GGGAGAGG others(293): Show GGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAA TGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCG GGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGCGAGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCG GGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTG A	G G	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0218 a0001c0002t0016g0218	1	386	0.0026	-300	c.198 others(17): Show c.198+1648_198+1947del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933529	GGAATGAG others(293): Show GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGCAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA A	G G	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0078 a0002c0001t0078	a0002c0001t0078g0056 a0002c0001t0078g0056	1	386	0.0026	-300	c.198 others(15): Show c.198+382_198+681del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
D2HGDH_chr2_241729630_241773811	241766805	CTTGGGGA others(293): Show CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA G	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02976.hp2 HG02717.hp2 HG02976.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0031 a0004c0005t0005 a0004c0005t0031	a0004c0005t0005g0154 a0004c0005t0031g0163 a0004c0005t0005g0154 a0004c0005t0031g0163	2	412	0.0049	-300	c.130 others(17): Show c.1307-855_1307-556del	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
DLEC1_chr3_38034208_38129025	38081460	CCCTCCCG others(293): Show CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGG CCGGGCAGGGGGCTGAGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGG CGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGT GGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGC TGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC A	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00323.hp2 others(92): Show HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00558.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG01069.hp2 HG01070.hp1 HG01074.hp2 HG01106.hp1 HG01175.hp1 HG01192.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02071.hp1 HG02083.hp1 HG02109.hp2 HG02132.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02572.hp2 HG02602.hp2 HG02647.hp1 HG02738.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03130.hp2 HG03239.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03579.hp1 HG03669.hp2 HG03710.hp1 HG03927.hp2 HG03942.hp2 HG04199.hp1 NA18522.hp2 NA18747.hp2 NA18939.hp2 NA18942.hp1 NA18955.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18964.hp1 NA18967.hp1 NA18972.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18982.hp1 NA18983.hp2 NA18986.hp1 NA18995.hp1 NA18999.hp2 NA19005.hp1 NA19007.hp2 NA19043.hp1 NA19056.hp2 NA19062.hp1 NA19064.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19079.hp1 NA19081.hp1 NA19085.hp2 NA19086.hp1 NA19090.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0004 others(10): Show a0001 a0002 a0004 a0005 a0006 a0008 a0010 a0012 a0017 a0021 a0023 a0025 a0028	a0001c0002 a0001c0004 a0001c0013 others(23): Show a0001c0002 a0001c0004 a0001c0013 a0001c0014 a0001c0016 a0001c0018 a0001c0026 a0001c0028 a0001c0030 a0001c0038 a0001c0039 a0001c0041 a0001c0042 a0001c0046 a0002c0005 a0004c0008 a0005c0011 a0006c0010 a0008c0015 a0010c0064 a0012c0062 a0017c0049 a0021c0027 a0023c0047 a0025c0043 a0028c0040	a0001c0002t0001 a0001c0004t0001 a0001c0004t0002 others(27): Show a0001c0002t0001 a0001c0004t0001 a0001c0004t0002 a0001c0013t0001 a0001c0014t0005 a0001c0016t0003 a0001c0016t0009 a0001c0018t0001 a0001c0018t0002 a0001c0026t0002 a0001c0028t0001 a0001c0030t0001 a0001c0038t0001 a0001c0039t0001 a0001c0041t0001 a0001c0042t0003 a0001c0046t0001 a0002c0005t0001 a0002c0005t0003 a0004c0008t0001 a0005c0011t0001 a0006c0010t0001 a0008c0015t0001 a0010c0064t0003 a0012c0062t0002 a0017c0049t0002 a0021c0027t0001 a0023c0047t0001 a0025c0043t0001 a0028c0040t0001	a0001c0002t0001g0006 a0001c0002t0001g0224 a0001c0002t0001g0225 others(89): Show a0001c0002t0001g0006 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0236 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0268 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0283 a0001c0002t0001g0285 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0004t0001g0214 a0001c0004t0002g0206 a0001c0004t0002g0207 a0001c0004t0002g0208 a0001c0004t0002g0209 a0001c0004t0002g0210 a0001c0004t0002g0211 a0001c0004t0002g0216 a0001c0004t0002g0217 a0001c0004t0002g0219 a0001c0013t0001g0215 a0001c0014t0005g0007 a0001c0016t0003g0281 a0001c0016t0009g0282 a0001c0018t0001g0263 a0001c0018t0002g0163 a0001c0026t0002g0138 a0001c0028t0001g0218 a0001c0030t0001g0280 a0001c0038t0001g0008 a0001c0039t0001g0149 a0001c0041t0001g0278 a0001c0042t0003g0279 a0001c0046t0001g0284 a0002c0005t0001g0108 a0002c0005t0001g0130 a0002c0005t0003g0004 a0004c0008t0001g0234 a0004c0008t0001g0259 a0004c0008t0001g0270 a0004c0008t0001g0273 a0004c0008t0001g0291 a0005c0011t0001g0237 a0005c0011t0001g0238 a0005c0011t0001g0239 a0006c0010t0001g0136 a0006c0010t0001g0247 a0006c0010t0001g0253 a0006c0010t0001g0254 a0008c0015t0001g0167 a0008c0015t0001g0169 a0010c0064t0003g0129 a0012c0062t0002g0134 a0017c0049t0002g0212 a0021c0027t0001g0220 a0023c0047t0001g0267 a0025c0043t0001g0269 a0028c0040t0001g0235	95	298	0.3188	-300	c.117 others(19): Show c.1174-2670_1174-2371del	DLEC1	ENSG00000008226.20	transcript	ENST00000308059.11	protein_coding	6/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
DPH7_chr9_137549444_137583925	137566633	CTCTGTCT others(293): Show CTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTC CCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGT GAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGA CTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTC CCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGA GGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCT G	C C	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG03490.hp2 HG01358.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0120 a0001c0001t0001g0109 a0001c0001t0001g0120	2	340	0.0059	-300	c.641 others(17): Show c.641-1779_641-1480del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567658	TGGGTGAC others(293): Show TGGGTGACTCTGTCCGTGAGGAAGCTCCCCGGGGTGACTCTGTCCGTGAG GAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTC TGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCC G	T T	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	340	0.0029	-300	c.641 others(17): Show c.641-2804_641-2505del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
ERFL_chr19_41902704_41933449	41914595	CATCTCTG others(293): Show CATCTCTGTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTGTCTCTCCCT CCCTTTCCACCATCTCTGTCTCTCCCTCCCCTTCCACCATCTCTGTCTCT CCCTCCCCTTCCACCATCTCTGTCTCTCCCTCCCCTTCCACCATCTCTGT CTCTCCCTCCCCTTCCACCGTCTCTGTCTCTCCCTCCCCTTCCACCGTCT CTGTCTCTCCCTCCCCCTCCACCGTGTCTCCCCCCCTTTCCACCGTCTCT GTCTCTCCCCCCCTCCACCATCTCTGTCTCTCCCTCCCCTCCATCATCTC T	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	330	0.0030	-300	c.-13 others(17): Show c.-13-1963_-13-1664del	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERICH1_chr8_659200_736224	675704	TCGTGAGG others(293): Show TCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGG CCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGC GGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGA GGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGG ACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGT GAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCC C	T T	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0282 a0001c0001t0002g0282	1	378	0.0027	-300	c.305 others(17): Show c.305-1957_305-1658del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	675789	CGAGGACA others(293): Show CGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCC CCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGC GCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGC GCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAG AGACGCGGCGCCCCCCCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAG GACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCG T	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02809.hp1 HG02109.hp2 HG02809.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0156 a0003c0004t0001g0078 a0001c0001t0001g0156 a0003c0004t0001g0078	2	378	0.0053	-300	c.305 others(17): Show c.305-2042_305-1743del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ESRRA_chr11_64300524_64321743	64308610	ATTGAGAA others(293): Show ATTGAGAACATCCTGGCTAACACGGTGAAACACTGTCTCTACTAAAAATA CAAAAAATTAGCTGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGGTTGCAGT GAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTC CGTCTCAAAAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCATGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACCTGAGGTCAGGAG T	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	388	0.0026	-300	c.325 others(17): Show c.325+1113_325+1412del	ESRRA	ENSG00000173153.17	transcript	ENST00000000442.11	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
ESYT2_chr7_158725997_158834509	158729294	GGGAAGAG others(293): Show GGGAAGAGCAAGCGTGGAGGTGTTGGGAGAAGCAAGTGTGGATGTGCAAG CGTGGAGGTGGGGGGCTTGGCGCAAGCGTGGAGGTGCTGGGGGGAGGAGC AAGGTGGAGGTTGGGACTGGAGCAAATGTGGAGGTGCTGGGGGGAGGAGC AGGTGTGGAGATAGTGGGGGAGGAGCAAGCGTGGAGGTGCTGGGGGGAGG AGCAGGTGTGGAGATAGTGGGGGAGGAGCAAGCGTGGAGGCGGGAGGGTT GGAGCAGGTGTGGAGGTGCTGTGGAAGAGGGGCAAGTGAGGATGTGCTGG C	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0306 a0002c0002t0002g0306	1	370	0.0027	-300	c.46 others(11): Show c.4613_*4912del	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding		1702		chr7	TogoVar
EZH1_chr17_42695275_42750040	42733513	CGCCTGTG others(293): Show CGCCTGTGGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGACAGCCGTGAA CCCGGGAGGTGGAGCTTGCGGTGAGCCGAGATCGCACCACTGCACTCCAG CCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGGC CGGGCAGGGTGGCTGACGTCTGTAATCTCAGCACTTTGGAAGGCTGAGGC AGGCAGATCACGCGGTCAAGAGATTGAGACCAGCCTGGCCAGCATAGTGA AACCTTGTCTCTACTAAAAATACAAAAAATTAGCTAGGCATGGTGGCGGG T	C C	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	334	0.0030	-300	c.-10 others(19): Show c.-102-2895_-102-2596del	EZH1	ENSG00000108799.13	transcript	ENST00000428826.7	protein_coding	1/20			chr17	TogoVar
FGF12_chr3_192134390_192732541	192641104	TTTTTTTT others(293): Show TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCT GGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACC TGCCACTACGCCCGCCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC C	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01074.hp2 HG01169.hp1 others(34): Show HG00597.hp1 HG01074.hp2 HG01169.hp1 HG01169.hp2 HG01258.hp1 HG01261.hp1 HG01934.hp1 HG02109.hp2 HG02257.hp1 HG02258.hp2 HG02300.hp2 HG02559.hp1 HG02559.hp2 HG02647.hp1 HG02647.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03492.hp2 HG03516.hp2 HG04115.hp1 HG04204.hp2 NA18962.hp2 NA19060.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0028 a0001c0001t0030 a0001c0001t0032 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0041	a0001c0001t0001g0030 a0001c0001t0002g0020 a0001c0001t0002g0044 others(34): Show a0001c0001t0001g0030 a0001c0001t0002g0020 a0001c0001t0002g0044 a0001c0001t0002g0056 a0001c0001t0003g0059 a0001c0001t0003g0063 a0001c0001t0003g0074 a0001c0001t0003g0077 a0001c0001t0005g0029 a0001c0001t0005g0078 a0001c0001t0006g0068 a0001c0001t0007g0027 a0001c0001t0007g0038 a0001c0001t0007g0055 a0001c0001t0007g0076 a0001c0001t0008g0067 a0001c0001t0009g0025 a0001c0001t0009g0052 a0001c0001t0010g0071 a0001c0001t0011g0065 a0001c0001t0013g0036 a0001c0001t0014g0013 a0001c0001t0014g0057 a0001c0001t0015g0064 a0001c0001t0016g0060 a0001c0001t0017g0016 a0001c0001t0018g0002 a0001c0001t0021g0001 a0001c0001t0022g0028 a0001c0001t0023g0088 a0001c0001t0028g0033 a0001c0001t0030g0073 a0001c0001t0032g0079 a0001c0001t0036g0006 a0001c0001t0038g0010 a0001c0001t0039g0058 a0001c0001t0041g0045	37	90	0.4111	-300	c.13+ others(17): Show c.13+85777_13+86076del	FGF12	ENSG00000114279.15	transcript	ENST00000445105.7	protein_coding	2/5			chr3	TogoVar
FLT4_chr5_180596506_180654600	180617169	ATCCTACT others(293): Show ATCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCAC GTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACACAC GTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGACTCTGGGACACCCAC GTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGACTCTGGGACACCCAC GTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCAC ATCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCAC G	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02895.hp1 NA19030.hp2 HG02630.hp2 HG02895.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0027 a0002c0003t0019 a0001c0001t0027 a0002c0003t0019	a0001c0001t0027g0231 a0002c0003t0019g0186 a0002c0003t0019g0250 a0001c0001t0027g0231 a0002c0003t0019g0186 a0002c0003t0019g0250	3	388	0.0077	-300	c.300 others(17): Show c.3002-475_3002-176del	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	21/29			chr5	TogoVar
FOXN3_chr14_89151177_89422233	89360758	CTCCACCA others(293): Show CTCCACCACTACCACCTCCACCACCACCTCCACCACCACCACCTCCAGCA CCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACC ACCACCTCCACCACCACCTCCACCACCACCTCCACCACCACCACCTCCAC CACCACCACCTCCAGCACCACCTCCACCACCACCACCTCCACCACCACCA CCTCCAGCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACC ACCTCCACCACCACCTCCACCACCACCTCCACCACCACCACCTCCAGCAC T	C C	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0051 a0001c0001t0075g0051	1	230	0.0044	-300	c.544 others(18): Show c.544-10250_544-9951del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89362313	CAGCACCA others(293): Show CAGCACCACCTCTACCACCACCACCTCCAGCACCACCACCACCTCCTCCT CCTCCTCCACCACCACCTCCACCACCACCACCTCCAGCACCACCACCACC TCCTCCTCCTCCACCACCACCACCACCACCTCCAGCACCAGCTCCACCAC CTCCTCCTCCACCACCACCACCACCACCACCACCATCTCCACCACCACCA CCACCATCTCTACGACCACCACCACCACCATCTCCACCACCACCTCCACC ACCACCACCACCACCATCTCTACGACCACCACCACCACCACCATCTCTAC G	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 NA18980.hp1 HG00741.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0086 a0001c0001t0026 a0001c0001t0086	a0001c0001t0026g0031 a0001c0001t0086g0130 a0001c0001t0026g0031 a0001c0001t0086g0130	2	230	0.0087	-300	c.544 others(19): Show c.544-11805_544-11506del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
GAL3ST2_chr2_241771822_241809287	241805503	GACCTCCG others(293): Show GACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCC CCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTC CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGG A	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0212 a0001c0001t0002g0212	1	314	0.0032	-300	c.13 others(11): Show c.1338_*1637del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1217		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806479	GACCTCTG others(293): Show GACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTC CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGG A	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG01516.hp2 HG01517.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0002 a0005c0005t0001g0002	2	314	0.0064	-300	c.23 others(11): Show c.2314_*2613del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2193		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806485	TGCAGGCC others(293): Show TGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTC C	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0224 a0003c0003t0001g0224	1	314	0.0032	-300	c.23 others(11): Show c.2320_*2619del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2199		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806652	CCCCTCAG others(293): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC T	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0197 a0001c0001t0002g0197	1	314	0.0032	-300	c.24 others(11): Show c.2487_*2786del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2366		chr2	TogoVar
GALP_chr19_56171008_56190775	56176209	CGGGGTGA others(293): Show CGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGGCGGATGCCAGCTGCAG CGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCAC CGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCAC CGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCAC CGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATGCCAGCTGCAG CGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCAC G	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0312 a0001c0002t0003g0312	1	444	0.0023	-300	c.-40 others(15): Show c.-40+175_-40+474del	GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
GARRE1_chr19_34249554_34360566	34252460	CTTTTTTT others(293): Show CTTTTTTTTTTTTTTTTGAGATAGATTCTCGCTTCATCGCCAAGGCTGGA ATACAGTGGCGTAATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAA GTTGTTCTCCTGCTTCGGCCTTCCAAGTAGCTGGGATTATAGGCCTCCAC CACCACGCCTGGCTAACTTTTTGTATTTTTAGTACAGATGGGATTTCACC ATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTC GGCCTCCCAAAGTGTTGGGATTACAGGCGTGAACCACTGCACCCGGCCTC T	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00733.hp2 HG01074.hp1 others(35): Show HG00642.hp2 HG00733.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01175.hp2 HG01358.hp2 HG01884.hp2 HG01891.hp1 HG02055.hp1 HG02109.hp2 HG02257.hp2 HG02615.hp1 HG02630.hp1 HG02698.hp1 HG02723.hp2 HG02809.hp1 HG02897.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03453.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG04115.hp1 HG04184.hp2 HG06807.hp2 NA18522.hp1 NA19043.hp2 NA20300.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0012 a0001c0001 a0008c0012	a0001c0001t0001 a0001c0001t0021 a0008c0012t0001 a0001c0001t0001 a0001c0001t0021 a0008c0012t0001	a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 others(35): Show a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0021g0188 a0008c0012t0001g0189	38	326	0.1166	-300	c.-29 others(11): Show c.-2949_-2650del	GARRE1	ENSG00000166398.14	transcript	ENST00000299505.8	protein_coding		2093		chr19	TogoVar
GRTP1_chr13_113319163_113369130	113346340	CCGAGAGC others(293): Show CCGAGAGCGGACCCAGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGG ACCTCTGTGGCTGAGCAGACCTGGGAAGACATCTGTGGCCGAGAACAGAC CCAGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCT GACAGTGGACCCGGGAGGACCTCTGTGGCAAAGAGCAGACCCGGGAGGAC CTCTGTGGCAAAGAGCAGACCCAGGAGGACCTCTGTGGCCGAGAACAGAC CCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCT G	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	288	0.0035	-300	c.466 others(17): Show c.466-1681_466-1382del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
INPP5B_chr1_37855697_37952053	37871108	AGATCGTG others(293): Show AGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTAAGACTGTCTCAA AAAAAAAAAAAAAAAAAAGGCCGGGCGCAGTGGCTCATGCTTGTAATCCC AACACTTTGGGAAGCTGGGGCGGGCAGATCACCTGAGGTCAGGAGTTTGA GACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTATAGAAAATACAAAA ATTAGCCGGGTATGGTGGCGGGCACCTGTAATGCCAGCTACTTGGGAGGC TGAGGCAGGAGAATCGTTTGAACCTGGGAGGCAGAGGTTGCAGTAAGCCA C	A A	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0344 a0002c0002t0001g0344	1	346	0.0029	-300	c.218 others(19): Show c.2187+1522_2187+1821del	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	19/23			chr1	TogoVar
KCNG2_chr18_79792938_79905100	79808627	GCTGACCA others(293): Show GCTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGAAGCTG CCGGGGACACACTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTC TGAGGAGCTGCCGGGGACACACTGACCACACTCCACGTTATGGGCCCAGA GTCCGCGCTCTGAGGAGCTGCCGGGGCCTCGCTGACCACACTCCACGTTA TGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGACACACTGACCACA CTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGAAGCTGCCAGGGACAC A	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA19030.hp2 HG02886.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0081 a0001c0001t0001g0022 a0001c0001t0001g0081	2	312	0.0064	-300	c.-11 others(21): Show c.-115+10657_-115+10956del	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79809248	GGGCCCAG others(293): Show GGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGACACACTGACCACAC TCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGACACA CTGACCACACTCCACGTTATGGGCCCAGAGTCCTCGCTCTGAGGAGCTGC CGGGGACACACTGACCACACTCCACGTTACGGTCCCAGAGTCCTCGCCCT GAGGAGCTGCCGGGGCCGCGCTGACCACACTCCACGTTATGGGCCCAGAG TCCGCGCTCTGAGGAGCTGCCGGGGCCGCGCTGACCACACTCCACGTTAC C	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0003 a0002c0004t0001g0003	1	312	0.0032	-300	c.-11 others(21): Show c.-115+11269_-115+11568del	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KIAA1671_chr22_24947716_25202448	25000192	TTTTTTTT others(293): Show TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCT GGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCG CGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC C	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0004 a0005c0011t0004	a0005c0011t0004g0227 a0005c0011t0004g0227	1	254	0.0039	-300	c.-20 others(21): Show c.-207-25422_-207-25123del	KIAA1671	ENSG00000197077.14	transcript	ENST00000358431.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
LCN15_chr9_136754634_136769518	136769218	CCCCCCCC others(293): Show CCCCCCCCGCCACCCCCCCATGCACTGCCCCCCCCGCCACCCCGCCACCC CTCCATGCACTGCCCCCCCGCCACCCCGCCACCCCTCCATGCACTGCCCC CCGCCACCCCCCCATGCACTGCCCCCCCGCCACCCCGCCACCCCTCCATG CACTGCCCCCCGCCACCACCCCATGCACTGCCCCCCCCGCCACCCCGCCA CCCCCCCATGCACTTCCCCCCCGCCACCCCGCCACCCCCCATGCACTGCC CCCCCCGACACCCCGACACCCCCCATGCACTGCCCCCCCGCCACCCCGCC A	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	356	0.0028	-300	c.-50 others(11): Show c.-5030_-4731del	LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding		4701		chr9	TogoVar
LOC128462377_chr16_89312046_89423292	89421415	CGGGGGTG others(293): Show CGGGGGTGAGACACGAAGGGTCGGTGTGTGATGACGGAGTCAGGGATGGG ACCATCACCCGTCCATGTCTGGGGGTGGGGCTGAGACACGAAGGGTCGGT GTGTGGTGACGGAGTCAGGGATGGGACCATCACCCGTCCATGTCTGGGGG CGGGGGTGAGACACGAAGGGTCGGTGTGTGATGACGGAGTCAGGGATGGG ACCATCACCCGTCCATGTCTGGGGGCGGGGGTGAGACACGAAGGGTCGGT GTGTGATGACGGAGTCAGGGATGGGACCATCACCCGTCCACGTCTGGGGG T	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0006 a0001c0001t0000g0006	1	366	0.0027	-300	c.-34 others(11): Show c.-3423_-3124del	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding		3124		chr16	TogoVar
MELTF_chr3_196996740_197034817	197032462	GAGCACCT others(293): Show GAGCACCTGCAGTAGTGTGATGTCAGAGGATGTTACGCTCTTGCTGACTG GTTGGGGTGTCAGCACCTGCAGTCGTGTGATGTCAGAAGATTTTACACTC TTGCTGACTGGTTGTGGTGTGAGCACCTGCAGTAGTGTGATGTCAGAGGA TGTTACCCTCTTGCTGACTTGTTGGGGTGTGAGCACCTGAAGTAGTGTGA TGTCAGAGGATGTTACACTCTTGCTGATGGGTTGGGGTGTGAGCACCTGC AGTCGTGTGATGTCAGAAGATTTTACACTCTTGCTGACTGGTTGGGGTGT C	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01123.hp2 HG02155.hp1 others(2): Show HG01074.hp1 HG01123.hp2 HG02155.hp1 HG02257.hp1 HG02451.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0009c0011 a0001c0001 a0001c0002 a0009c0011	a0001c0001t0002 a0001c0001t0034 a0001c0002t0056 others(1): Show a0001c0001t0002 a0001c0001t0034 a0001c0002t0056 a0009c0011t0008	a0001c0001t0002g0002 a0001c0001t0002g0179 a0001c0001t0034g0189 others(2): Show a0001c0001t0002g0002 a0001c0001t0002g0179 a0001c0001t0034g0189 a0001c0002t0056g0247 a0009c0011t0008g0127	5	420	0.0119	-300	c.-30 others(11): Show c.-3060_-2761del	MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding		2646		chr3	TogoVar
MINK1_chr17_4828340_4903061	4830388	TTTTTTTT others(293): Show TTTTTTTTTTTTTTTTTTGAGACGTTGTCTTGCTCTGTCACCCAGGCTGG AGTGCAGTGGCACGTTCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCA AGCGATTCTTCTGCATCGGCATCCCGAATAGCTGGGATTACAGGCGCCTG CCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACATGGTTTCACC ATGTTGTCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACTCGTC TCGGCCTCCCCAAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCGG C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02965.hp1 HG03130.hp1 HG02622.hp1 HG02965.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0079 a0001c0001t0021g0080 a0001c0001t0021g0081 a0001c0001t0021g0079 a0001c0001t0021g0080 a0001c0001t0021g0081	3	360	0.0083	-300	c.-31 others(11): Show c.-3195_-2896del	MINK1	ENSG00000141503.17	transcript	ENST00000355280.11	protein_coding		2951		chr17	TogoVar
MUC5AC_chr11_1152953_1206138	1154547	GCCACCCA others(293): Show GCCACCCACTCACTCACTCACCCACTCACTTATTCACTCACTCACCCACT CACTTATTCACCCATTCACTCATTCATTCACCCATTCACTCACTCACTTA TTCACTCACTCTCTCACTCATTCATTAATTCGCCCATTCACTCACACTTT CACTCACTCACTTATTCACTCATACACTCATTCACTTATTTACTCACTCA TTCACTCACTCATTAATTCACCCATTCACTCACTCACTTATTCACTCATA GACTCATACACTCACTCATTCACTCACGCATCCACTCATTCACTCACTCA T	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG03195.hp2 HG02922.hp2 HG03195.hp2	a0010 a0010	a0010c0019 a0010c0019	a0010c0019t0002 a0010c0019t0002	a0010c0019t0002g0007 a0010c0019t0002g0007	2	292	0.0069	-300	c.-34 others(11): Show c.-3452_-3153del	MUC5AC	ENSG00000215182.8	transcript	ENST00000621226.2	protein_coding		3405		chr11	TogoVar

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Search Results (Total: 10000 hits)