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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Select column to sort.

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Results per page.

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
ENPP6_chr4_184083706_184222873	184131184	TCTTTCTT others(10): Show TCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG03516.hp1 HG02083.hp2 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0137 a0001c0002t0002g0170 a0001c0002t0001g0137 a0001c0002t0002g0170	2	320	0.0063	-17	c.422 others(34): Show c.422-6929_422-6913delGAAAGAAAGAAAGAAAG	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding	2/7			chr4	TogoVar
ENPP6_chr4_184083706_184222873	184157539	CCTTTCTT others(10): Show CCTTTCTTTCCTTTCTCT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02886.hp1 HG02895.hp1 others(2): Show HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0004 a0002c0001t0001 a0001c0003t0004 a0002c0001t0001	a0001c0003t0004g0025 a0001c0003t0004g0026 a0001c0003t0004g0135 others(2): Show a0001c0003t0004g0025 a0001c0003t0004g0026 a0001c0003t0004g0135 a0001c0003t0004g0268 a0002c0001t0001g0134	5	320	0.0156	-17	c.242 others(34): Show c.242-3823_242-3807delAGAGAAAGGAAAGAAAG	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding	1/7			chr4	TogoVar
ENPP7_chr17_79725943_79747219	79746195	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00735.hp2 HG01496.hp1 others(3): Show HG00099.hp2 HG00735.hp2 HG01496.hp1 HG02451.hp2 HG04115.hp1 NA18967.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0001 a0002c0021 others(1): Show a0001c0002 a0002c0001 a0002c0021 a0003c0005	a0001c0002t0001 a0002c0001t0001 a0002c0021t0001 others(1): Show a0001c0002t0001 a0002c0001t0001 a0002c0021t0001 a0003c0005t0001	a0001c0002t0001g0003 a0001c0002t0001g0221 a0002c0001t0001g0126 others(2): Show a0001c0002t0001g0003 a0001c0002t0001g0221 a0002c0001t0001g0126 a0002c0021t0001g0005 a0003c0005t0001g0135	6	430	0.0140	-17	c.44 others(28): Show c.4419_*4435delAAAAAAAAAAAAAAAAA	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding		3977		chr17	TogoVar
ENPP7_chr17_79725943_79747219	79746225	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0002 a0007c0013t0002	a0007c0013t0002g0069 a0007c0013t0002g0069	1	430	0.0023	-17	c.44 others(28): Show c.4449_*4465delAAAAAAAAAAAAAAAAC	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding		4007		chr17	TogoVar
ENPP7_chr17_79725943_79747219	79746614	GAGGGATC others(10): Show GAGGGATCCCCTGAGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01891.hp1 HG06807.hp1 others(1): Show HG01243.hp2 HG01891.hp1 HG06807.hp1 NA18522.hp2	a0001 a0010 a0001 a0010	a0001c0002 a0001c0006 a0010c0018 a0001c0002 a0001c0006 a0010c0018	a0001c0002t0001 a0001c0006t0002 a0010c0018t0001 a0001c0002t0001 a0001c0006t0002 a0010c0018t0001	a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0006t0002g0240 others(1): Show a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0006t0002g0240 a0010c0018t0001g0040	4	430	0.0093	-17	c.48 others(28): Show c.4838_*4854delAGGGATCCCCTGAGGGA	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding		4396		chr17	TogoVar
ENTPD1_chr10_95751163_95882266	95777465	CTGCAGAA others(10): Show CTGCAGAACAGCAAATAT	C C	intron_variant intron_variant	MODIFIER	HG03834.hp1 NA18975.hp2 HG03834.hp1 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0282 a0001c0001t0001g0260 a0001c0001t0001g0282	2	340	0.0059	-17	c.16+ others(34): Show c.16+21231_16+21247delAGAACAGCAAATATTGC	ENTPD1	ENSG00000138185.20	transcript	ENST00000371205.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
ENTPD5_chr14_73958230_74024288	74005273	AAAAAAAA others(10): Show AAAAAAAAAGAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00642.hp2 HG00673.hp1 others(64): Show HG00408.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG01069.hp2 HG01109.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01346.hp1 HG01358.hp1 HG01496.hp2 HG01516.hp2 HG01981.hp2 HG02083.hp2 HG02135.hp2 HG02145.hp1 HG02523.hp1 HG02630.hp2 HG02738.hp1 HG02976.hp2 HG03209.hp2 HG03239.hp1 HG03491.hp1 HG03688.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp2 NA18941.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18953.hp1 NA18954.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18964.hp1 NA18971.hp2 NA18975.hp1 NA18981.hp2 NA18983.hp2 NA18985.hp2 NA18986.hp2 NA18990.hp1 NA18994.hp2 NA19002.hp1 NA19004.hp2 NA19007.hp1 NA19012.hp2 NA19056.hp1 NA19058.hp1 NA19065.hp2 NA19078.hp1 NA19080.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp2 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008	a0001c0001t0004 a0001c0001t0007 a0001c0002t0002 others(5): Show a0001c0001t0004 a0001c0001t0007 a0001c0002t0002 a0001c0002t0008 a0001c0002t0020 a0001c0002t0027 a0001c0005t0002 a0001c0008t0002	a0001c0001t0004g0348 a0001c0001t0004g0353 a0001c0001t0007g0313 others(64): Show a0001c0001t0004g0348 a0001c0001t0004g0353 a0001c0001t0007g0313 a0001c0001t0007g0318 a0001c0002t0002g0242 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0002t0002g0288 a0001c0002t0002g0292 a0001c0002t0002g0293 a0001c0002t0002g0294 a0001c0002t0002g0295 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0298 a0001c0002t0002g0299 a0001c0002t0002g0300 a0001c0002t0002g0301 a0001c0002t0002g0302 a0001c0002t0002g0303 a0001c0002t0002g0304 a0001c0002t0002g0305 a0001c0002t0002g0306 a0001c0002t0002g0307 a0001c0002t0002g0308 a0001c0002t0002g0309 a0001c0002t0002g0310 a0001c0002t0002g0311 a0001c0002t0002g0312 a0001c0002t0002g0314 a0001c0002t0002g0315 a0001c0002t0002g0316 a0001c0002t0002g0319 a0001c0002t0002g0321 a0001c0002t0002g0323 a0001c0002t0002g0325 a0001c0002t0002g0326 a0001c0002t0002g0327 a0001c0002t0002g0328 a0001c0002t0002g0329 a0001c0002t0002g0330 a0001c0002t0002g0331 a0001c0002t0002g0332 a0001c0002t0002g0333 a0001c0002t0002g0334 a0001c0002t0002g0336 a0001c0002t0002g0337 a0001c0002t0002g0338 a0001c0002t0002g0350 a0001c0002t0002g0351 a0001c0002t0002g0352 a0001c0002t0002g0354 a0001c0002t0002g0355 a0001c0002t0002g0356 a0001c0002t0008g0339 a0001c0002t0008g0340 a0001c0002t0008g0341 a0001c0002t0008g0342 a0001c0002t0008g0343 a0001c0002t0008g0344 a0001c0002t0008g0345 a0001c0002t0020g0289 a0001c0002t0020g0290 a0001c0002t0027g0317 a0001c0005t0002g0346 a0001c0005t0002g0347 a0001c0008t0002g0324	67	380	0.1763	-17	c.-71 others(34): Show c.-71+5801_-71+5817delCTTTTTTTCTTTTTTTT	ENTPD5	ENSG00000187097.13	transcript	ENST00000334696.11	protein_coding	3/15			chr14	TogoVar
ENTPD8_chr9_137429364_137446357	137440942	GACACCCC others(10): Show GACACCCCCTCAGACAGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00408.hp2 others(177): Show HG00099.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02559.hp2 HG02602.hp2 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02895.hp1 HG02922.hp2 HG02970.hp1 HG03017.hp2 HG03098.hp1 HG03209.hp1 HG03239.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03688.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18940.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18964.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19056.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0003 a0011 others(1): Show a0001 a0003 a0011 a0014	a0001c0001 a0001c0010 a0001c0011 others(6): Show a0001c0001 a0001c0010 a0001c0011 a0001c0013 a0001c0019 a0001c0020 a0003c0003 a0011c0017 a0014c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 a0001c0010t0002 a0001c0011t0002 a0001c0013t0002 a0001c0019t0002 a0001c0020t0002 a0003c0003t0002 a0011c0017t0001 a0014c0021t0001	a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0020 others(51): Show a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0081 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0127 a0001c0001t0001g0153 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0016 a0001c0001t0002g0021 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0039 a0001c0001t0002g0070 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0090 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0118 a0001c0001t0003g0085 a0001c0001t0005g0073 a0001c0001t0013g0092 a0001c0010t0002g0030 a0001c0011t0002g0034 a0001c0013t0002g0071 a0001c0019t0002g0078 a0001c0020t0002g0074 a0003c0003t0002g0028 a0011c0017t0001g0121 a0014c0021t0001g0117	180	392	0.4592	-17	c.-21 others(32): Show c.-21+327_-21+343delTCTGTCTGAGGGGGTGT	ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	1/9			chr9	TogoVar
ENTPD8_chr9_137429364_137446357	137441202	CCCCCCAG others(10): Show CCCCCCAGACCAGGACAG	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02647.hp1 HG02897.hp2 others(3): Show HG02630.hp2 HG02647.hp1 HG02897.hp2 HG03209.hp2 HG03540.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0007t0003	a0001c0001t0001g0158 a0001c0001t0002g0155 a0001c0001t0003g0156 others(2): Show a0001c0001t0001g0158 a0001c0001t0002g0155 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0007t0003g0043	6	392	0.0153	-17	c.-21 others(30): Show c.-21+67_-21+83delCTGTCCTGGTCTGGGGG	ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	1/9			chr9	TogoVar
ENTREP2_chr15_29115252_29575979	29174693	AAAACAAA others(10): Show AAAACAAAACAAAACAAC	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG06807.hp2 HG02257.hp2 HG06807.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0035 a0002c0004t0003 a0002c0003t0035 a0002c0004t0003	a0002c0003t0035g0104 a0002c0004t0003g0111 a0002c0003t0035g0104 a0002c0004t0003g0111	2	125	0.0160	-17	c.522 others(36): Show c.522+21720_522+21736delGTTGTTTTGTTTTGTTT	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	4/10			chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29306664	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02486.hp2 HG02886.hp2 others(3): Show HG02055.hp1 HG02486.hp2 HG02886.hp2 HG03453.hp1 HG03540.hp2 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0008 a0002c0003 a0002c0009 others(2): Show a0001c0008 a0002c0003 a0002c0009 a0003c0006 a0007c0028	a0001c0008t0007 a0001c0008t0036 a0002c0003t0023 others(3): Show a0001c0008t0007 a0001c0008t0036 a0002c0003t0023 a0002c0009t0003 a0003c0006t0046 a0007c0028t0017	a0001c0008t0007g0064 a0001c0008t0036g0045 a0002c0003t0023g0027 others(3): Show a0001c0008t0007g0064 a0001c0008t0036g0045 a0002c0003t0023g0027 a0002c0009t0003g0050 a0003c0006t0046g0037 a0007c0028t0017g0089	6	125	0.0480	-17	c.277 others(36): Show c.277-54203_277-54187delAAAAAAAAAAAAAAAAA	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	2/10			chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29534106	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0063 a0002c0003t0005g0063	1	125	0.0080	-17	c.219 others(36): Show c.219+36382_219+36398delTTTTTTTTTTTTTTTTT	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10			chr15	TogoVar
ENTREP3_chr1_155242205_155260483	155252710	ATATATAT others(10): Show ATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02132.hp2 NA18953.hp2 others(2): Show HG00558.hp2 HG02132.hp2 NA18953.hp2 NA18971.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0212 a0001c0001t0001g0015 a0001c0001t0001g0212	5	395	0.0127	-17	c.622 others(32): Show c.622-822_622-806delAAAAATATATATATATA	ENTREP3	ENSG00000160767.23	transcript	ENST00000361361.7	protein_coding	5/11			chr1	TogoVar
ENTREP3_chr1_155242205_155260483	155252712	ATATATAT others(10): Show ATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA19079.hp1 HG00544.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0227 a0001c0001t0001g0095 a0001c0001t0001g0227	2	395	0.0051	-17	c.622 others(32): Show c.622-824_622-808delAAAAAAATATATATATA	ENTREP3	ENSG00000160767.23	transcript	ENST00000361361.7	protein_coding	5/11			chr1	TogoVar
ENY2_chr8_109329347_109350954	109337689	GTCAGGAG others(10): Show GTCAGGAGATTGAGACTA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02818.hp2 HG06807.hp2 HG02615.hp2 HG02818.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0020 a0001c0001t0008g0020	3	428	0.0070	-17	c.83+ others(32): Show c.83+1488_83+1504delAGGAGATTGAGACTATC	ENY2	ENSG00000120533.13	transcript	ENST00000521688.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
EOMES_chr3_27710953_27727323	27720531	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01099.hp1 HG01099.hp2 others(51): Show HG00099.hp1 HG01099.hp1 HG01099.hp2 HG01167.hp1 HG01169.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01993.hp1 HG01993.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02257.hp1 HG02300.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02818.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02976.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03942.hp2 NA18612.hp1 NA18960.hp1 NA18966.hp1 NA18971.hp1 NA18986.hp1 NA18998.hp1 NA19002.hp1 NA19065.hp2 NA19074.hp2 NA19085.hp1 NA19085.hp2 NA20300.hp1 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 others(6): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0003t0003 a0003c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0023 a0001c0001t0001g0068 others(9): Show a0001c0001t0001g0003 a0001c0001t0001g0023 a0001c0001t0001g0068 a0001c0001t0005g0066 a0001c0001t0010g0067 a0002c0002t0001g0006 a0002c0002t0001g0040 a0002c0002t0003g0039 a0002c0002t0004g0043 a0002c0002t0005g0042 a0002c0003t0003g0041 a0003c0004t0001g0036	54	400	0.1350	-17	c.882 others(32): Show c.882-223_882-207delTTTTTTTTTTTTTTTTT	EOMES	ENSG00000163508.13	transcript	ENST00000449599.4	protein_coding	1/5			chr3	TogoVar
EP300_chr22_41087592_41185077	41111876	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0005 a0001c0004t0003g0005	1	300	0.0033	-17	c.95- others(32): Show c.95-5298_95-5282delTTTTTTTTTTTTTTTTT	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr22	TogoVar
EP300_chr22_41087592_41185077	41179877	CACTCACA others(10): Show CACTCACACACACACACA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0064 a0001c0002t0064	a0001c0002t0064g0053 a0001c0002t0064g0053	1	300	0.0033	-17	c.92 others(26): Show c.922_*938delACTCACACACACACACA	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	31/31	922		chr22	TogoVar
EPAS1_chr2_46292407_46391697	46386742	TGCCAATG others(10): Show TGCCAATGTAAAGTGAAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02818.hp2 HG02896.hp1 others(5): Show HG01109.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG03130.hp2 HG03486.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0008 a0002c0002t0001 a0001c0001t0001 a0001c0001t0008 a0002c0002t0001	a0001c0001t0001g0145 a0001c0001t0001g0265 a0001c0001t0001g0294 others(4): Show a0001c0001t0001g0145 a0001c0001t0001g0265 a0001c0001t0001g0294 a0001c0001t0008g0001 a0001c0001t0008g0045 a0001c0001t0008g0229 a0002c0002t0001g0152	8	326	0.0245	-17	c.20 others(28): Show c.2083_*2099delGCCAATGTAAAGTGAAG	EPAS1	ENSG00000116016.14	transcript	ENST00000263734.5	protein_coding		46		chr2	TogoVar
EPB41L2_chr6_130834347_131068245	130972355	GACTAAAA others(10): Show GACTAAAAATAAGATAAT	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02818.hp1 HG03098.hp2 others(4): Show HG02280.hp1 HG02818.hp1 HG03098.hp2 HG03209.hp2 HG03225.hp1 NA18906.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0334 others(4): Show a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0334 a0001c0001t0001g0336 a0001c0001t0001g0340 a0001c0001t0002g0335 a0001c0002t0002g0319	7	356	0.0197	-17	c.-14 others(36): Show c.-14-15873_-14-15857delATTATCTTATTTTTAGT	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	1/19			chr6	TogoVar
EPB41L3_chr18_5387386_5548997	5389994	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG01106.hp2 HG01109.hp2 others(25): Show HG00673.hp2 HG01106.hp2 HG01109.hp2 HG01243.hp2 HG01496.hp2 HG01891.hp1 HG01981.hp1 HG02015.hp1 HG02055.hp2 HG02135.hp2 HG02165.hp1 HG02258.hp1 HG02280.hp1 HG02300.hp1 HG02523.hp2 HG02622.hp1 HG02647.hp1 HG02723.hp1 HG02965.hp2 HG02976.hp2 HG03139.hp2 HG03471.hp1 HG03831.hp1 HG03834.hp1 NA18522.hp1 NA18961.hp1 NA19010.hp2 NA20752.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0008 a0010	a0001c0001 a0001c0002 a0001c0020 others(5): Show a0001c0001 a0001c0002 a0001c0020 a0002c0003 a0003c0004 a0004c0006 a0008c0009 a0010c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0020t0001 a0002c0003t0001 a0002c0003t0003 a0002c0003t0006 a0003c0004t0002 a0004c0006t0011 a0008c0009t0002 a0010c0017t0002	a0001c0001t0001g0030 a0001c0001t0001g0089 a0001c0001t0001g0124 others(25): Show a0001c0001t0001g0030 a0001c0001t0001g0089 a0001c0001t0001g0124 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0220 a0001c0001t0002g0015 a0001c0001t0006g0091 a0001c0002t0001g0215 a0001c0002t0002g0040 a0001c0002t0002g0049 a0001c0002t0002g0131 a0001c0002t0002g0170 a0001c0002t0002g0188 a0001c0002t0002g0216 a0001c0020t0001g0198 a0002c0003t0001g0088 a0002c0003t0001g0090 a0002c0003t0003g0155 a0002c0003t0006g0112 a0003c0004t0002g0007 a0003c0004t0002g0173 a0004c0006t0011g0070 a0008c0009t0002g0165 a0010c0017t0002g0032	28	222	0.1261	-17	c.34 others(28): Show c.3474_*3490delTTTTTTTTTTTTTTTTT	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding		2391		chr18	TogoVar
EPB41L4A_chr5_112157619_112424277	112408702	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG03669.hp1 NA18960.hp2 others(1): Show HG00323.hp2 HG03669.hp1 NA18960.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0008 a0001c0002t0025 a0001c0001t0002 a0001c0001t0008 a0001c0002t0025	a0001c0001t0002g0008 a0001c0001t0008g0009 a0001c0002t0025g0223 others(1): Show a0001c0001t0002g0008 a0001c0001t0008g0009 a0001c0002t0025g0223 a0001c0002t0025g0224	4	228	0.0175	-17	c.99+ others(34): Show c.99+10222_99+10238delCTTTTTTTTTTTTTTTT	EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22			chr5	TogoVar
EPB41L4B_chr9_109166974_109326059	109288722	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01106.hp1 HG01496.hp2 HG00741.hp2 HG01106.hp1 HG01496.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0019 a0001c0002t0015 a0001c0002t0019	a0001c0002t0015g0268 a0001c0002t0015g0280 a0001c0002t0019g0279 a0001c0002t0015g0268 a0001c0002t0015g0280 a0001c0002t0019g0279	3	318	0.0094	-17	c.307 others(34): Show c.307-8818_307-8802delTTTTTTTTTTTTTTTTT	EPB41L4B	ENSG00000095203.15	transcript	ENST00000374566.8	protein_coding	1/25			chr9	TogoVar
EPC2_chr2_148639751_148792569	148788918	ATTTGAGG others(10): Show ATTTGAGGATTTGTTTTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 NA19003.hp1 NA19004.hp2 HG02040.hp2 NA19003.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034	3	308	0.0097	-17	c.25 others(28): Show c.2542_*2558delTTTGAGGATTTGTTTTC	EPC2	ENSG00000135999.12	transcript	ENST00000258484.11	protein_coding		1350		chr2	TogoVar
EPCAM_chr2_47364311_47392020	47365518	ATATATAT others(10): Show ATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	450	0.0022	-17	c.-39 others(28): Show c.-3987_-3971delTATATATATATATATAT	EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding		3792		chr2	TogoVar
EPCAM_chr2_47364311_47392020	47365520	ATATATAT others(10): Show ATATATATATATATATTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0281 a0002c0002t0001g0281	1	450	0.0022	-17	c.-39 others(28): Show c.-3985_-3969delTATATATATATATATTT	EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding		3790		chr2	TogoVar
EPCAM_chr2_47364311_47392020	47365524	ATATATAT others(10): Show ATATATATATATTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	450	0.0022	-17	c.-39 others(28): Show c.-3981_-3965delTATATATATATTTTTTT	EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding		3786		chr2	TogoVar
EPCAM_chr2_47364311_47392020	47383607	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0313 a0001c0001t0001g0313	1	450	0.0022	-17	c.859 others(34): Show c.859-1530_859-1514delTTTTTTTTTTTTTTTTT	EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPGN_chr4_74303470_74321789	74310407	AGCTGAGA others(10): Show AGCTGAGATGGGGCCATT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00621.hp1 HG01109.hp2 others(31): Show HG00280.hp1 HG00621.hp1 HG01109.hp2 HG01175.hp2 HG01192.hp1 HG01256.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG02135.hp2 HG02145.hp1 HG02280.hp1 HG02451.hp2 HG02559.hp1 HG02630.hp1 HG02717.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG03139.hp2 HG03225.hp2 HG03516.hp1 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG04184.hp2 HG04204.hp2 NA18906.hp2 NA18978.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0019 a0001c0001t0021	a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0023 others(5): Show a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0004g0003 a0001c0001t0004g0014 a0001c0001t0005g0003 a0001c0001t0019g0003 a0001c0001t0021g0003	34	366	0.0929	-17	c.133 others(34): Show c.133+1228_133+1244delTGAGATGGGGCCATTGC	EPGN	ENSG00000182585.10	transcript	ENST00000413830.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
EPHA10_chr1_37710976_37770120	37732863	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0014 a0012c0018t0014	a0012c0018t0014g0023 a0012c0018t0014g0023	1	382	0.0026	-17	c.149 others(36): Show c.1492-1298_1492-1282delAAAAAAAAAAAAAAAAA	EPHA10	ENSG00000183317.17	transcript	ENST00000373048.9	protein_coding	6/16			chr1	TogoVar
EPHA2_chr1_16119337_16161069	16136666	GAAGAAAA others(10): Show GAAGAAAAGAAGAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03017.hp2 HG03704.hp1 others(3): Show HG02738.hp1 HG03017.hp2 HG03704.hp1 HG03704.hp2 HG03942.hp1 NA19007.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0002 a0001c0003t0001g0198 a0001c0003t0001g0199 others(1): Show a0001c0003t0001g0002 a0001c0003t0001g0198 a0001c0003t0001g0199 a0001c0003t0001g0246	6	312	0.0192	-17	c.131 others(34): Show c.1313-913_1313-897delTTTCTTCTTCTTTTCTT	EPHA2	ENSG00000142627.13	transcript	ENST00000358432.8	protein_coding	5/16			chr1	TogoVar
EPHA2_chr1_16119337_16161069	16136696	GAAGAAGA others(10): Show GAAGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0001 a0001c0034t0001	a0001c0034t0001g0273 a0001c0034t0001g0273	1	312	0.0032	-17	c.131 others(34): Show c.1313-943_1313-927delTTCTTCTTCTTCTTCTT	EPHA2	ENSG00000142627.13	transcript	ENST00000358432.8	protein_coding	5/16			chr1	TogoVar
EPHA4_chr2_221413027_221577304	221498790	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00544.hp1 others(61): Show HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01167.hp2 HG01243.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp2 HG01891.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02027.hp2 HG02071.hp2 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02698.hp2 HG02970.hp2 HG03239.hp1 HG03491.hp1 HG03831.hp1 HG04184.hp1 HG04199.hp1 NA18747.hp1 NA18941.hp1 NA18944.hp2 NA18952.hp1 NA18953.hp2 NA18956.hp1 NA18962.hp2 NA18968.hp2 NA18972.hp2 NA18981.hp1 NA18981.hp2 NA18998.hp1 NA19002.hp2 NA19003.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19057.hp1 NA19062.hp2 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19078.hp1 NA19091.hp1 NA20300.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0014 a0001c0001t0016 a0001c0001t0020 a0001c0001t0041 a0001c0001t0042 a0001c0001t0048 a0001c0002t0023 a0001c0003t0003 a0001c0005t0001 a0001c0010t0001	a0001c0001t0001g0007 a0001c0001t0001g0050 a0001c0001t0001g0068 others(61): Show a0001c0001t0001g0007 a0001c0001t0001g0050 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0120 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0177 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0001g0217 a0001c0001t0001g0222 a0001c0001t0001g0257 a0001c0001t0001g0264 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0002g0067 a0001c0001t0002g0111 a0001c0001t0002g0123 a0001c0001t0002g0136 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0158 a0001c0001t0002g0169 a0001c0001t0002g0175 a0001c0001t0002g0179 a0001c0001t0002g0210 a0001c0001t0002g0252 a0001c0001t0002g0258 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0004g0021 a0001c0001t0004g0203 a0001c0001t0005g0116 a0001c0001t0006g0250 a0001c0001t0010g0110 a0001c0001t0014g0213 a0001c0001t0016g0058 a0001c0001t0020g0173 a0001c0001t0041g0122 a0001c0001t0042g0153 a0001c0001t0048g0162 a0001c0002t0023g0218 a0001c0002t0023g0219 a0001c0003t0003g0126 a0001c0003t0003g0265 a0001c0005t0001g0034 a0001c0010t0001g0176	64	294	0.2177	-17	c.979 others(34): Show c.979+2210_979+2226delAAAAAAAAAAAAAAAAA	EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	4/17			chr2	TogoVar
EPHA4_chr2_221413027_221577304	221526852	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG03942.hp1 others(2): Show HG01167.hp1 HG01169.hp2 HG03942.hp1 NA19003.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0031 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0031 a0001c0002t0001	a0001c0001t0001g0059 a0001c0001t0002g0035 a0001c0001t0031g0046 others(2): Show a0001c0001t0001g0059 a0001c0001t0002g0035 a0001c0001t0031g0046 a0001c0002t0001g0047 a0001c0002t0001g0048	5	294	0.0170	-17	c.824 others(36): Show c.824-25697_824-25681delTTTTTTTTTTTTTTTTT	EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	3/17			chr2	TogoVar
EPHA5_chr4_65314567_65675489	65326001	GATATATA others(10): Show GATATATATATCTCATAT	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02572.hp1 HG03471.hp2 others(1): Show HG02486.hp1 HG02572.hp1 HG03471.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0027 a0001c0006t0035 a0001c0006t0054 a0001c0001t0027 a0001c0006t0035 a0001c0006t0054	a0001c0001t0027g0140 a0001c0001t0027g0143 a0001c0006t0035g0011 others(1): Show a0001c0001t0027g0140 a0001c0001t0027g0143 a0001c0006t0035g0011 a0001c0006t0054g0172	4	234	0.0171	-17	c.294 others(36): Show c.2946-1799_2946-1783delATATGAGATATATATAT	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	16/16			chr4	TogoVar
EPHA5_chr4_65314567_65675489	65530998	TTTTTTTT others(10): Show TTTTTTTTATTTTTTTTA	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0039 a0001c0001t0009g0039	1	234	0.0043	-17	c.911 others(36): Show c.911-35472_911-35456delTAAAAAAAATAAAAAAA	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16			chr4	TogoVar
EPHA5_chr4_65314567_65675489	65659319	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02630.hp1 HG03540.hp2 others(2): Show HG02622.hp1 HG02630.hp1 HG03540.hp2 HG06807.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0010 a0001c0001t0016 a0001c0001t0018 others(2): Show a0001c0001t0010 a0001c0001t0016 a0001c0001t0018 a0001c0001t0031 a0001c0006t0044	a0001c0001t0010g0149 a0001c0001t0016g0115 a0001c0001t0018g0112 others(2): Show a0001c0001t0010g0149 a0001c0001t0016g0115 a0001c0001t0018g0112 a0001c0001t0031g0001 a0001c0006t0044g0038	5	234	0.0214	-17	c.181 others(36): Show c.181+10226_181+10242delTTTTTTTTTTTTTTTTT	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	1/16			chr4	TogoVar
EPHA6_chr3_96809594_97766532	96941890	GCAGCGGT others(10): Show GCAGCGGTGGCTGTAGAA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp2 HG02280.hp2 others(7): Show HG02055.hp2 HG02258.hp2 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02965.hp2 HG03041.hp1 HG03139.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 others(6): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 a0001c0001t0015 a0001c0001t0017 a0001c0002t0001 a0001c0002t0004 a0001c0004t0001 a0001c0004t0023	a0001c0001t0001g0080 a0001c0001t0009g0076 a0001c0001t0010g0077 others(7): Show a0001c0001t0001g0080 a0001c0001t0009g0076 a0001c0001t0010g0077 a0001c0001t0015g0082 a0001c0001t0017g0081 a0001c0002t0001g0074 a0001c0002t0001g0078 a0001c0002t0004g0079 a0001c0004t0001g0075 a0001c0004t0023g0073	10	82	0.1220	-17	c.451 others(36): Show c.451-45416_451-45400delTGGCTGTAGAACAGCGG	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA6_chr3_96809594_97766532	97024178	ACAGTCTT others(10): Show ACAGTCTTACTTCTCAAC	A A	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 NA21309.hp2 HG01256.hp1 HG01258.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0058 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0001g0058 a0001c0001t0002g0028 a0001c0001t0002g0029	3	82	0.0366	-17	c.111 others(38): Show c.1114+36188_1114+36204delGTCTTACTTCTCAACCA	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA6_chr3_96809594_97766532	97047666	CTAATATT others(10): Show CTAATATTTGTAAAATAT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp1 HG01175.hp1 others(59): Show HG00642.hp1 HG00735.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01934.hp2 HG01952.hp1 HG02055.hp1 HG02055.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02809.hp1 HG02886.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 NA18906.hp1 NA19004.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19081.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(36): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0028 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0019 a0001c0002t0020 a0001c0002t0024 a0001c0002t0025 a0001c0002t0026 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0011 a0001c0003t0013 a0001c0003t0016 a0001c0003t0018 a0001c0003t0027 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0023 a0001c0005t0004 a0001c0006t0002 a0001c0006t0021 a0001c0007t0002 a0001c0009t0007 a0001c0010t0022	a0001c0001t0001g0013 a0001c0001t0001g0024 a0001c0001t0001g0058 others(59): Show a0001c0001t0001g0013 a0001c0001t0001g0024 a0001c0001t0001g0058 a0001c0001t0001g0080 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0067 a0001c0001t0004g0016 a0001c0001t0004g0071 a0001c0001t0005g0017 a0001c0001t0005g0018 a0001c0001t0006g0023 a0001c0001t0009g0019 a0001c0001t0009g0076 a0001c0001t0010g0077 a0001c0001t0014g0045 a0001c0001t0015g0082 a0001c0001t0017g0081 a0001c0001t0028g0015 a0001c0002t0001g0005 a0001c0002t0001g0007 a0001c0002t0001g0009 a0001c0002t0001g0022 a0001c0002t0001g0025 a0001c0002t0001g0030 a0001c0002t0001g0044 a0001c0002t0001g0074 a0001c0002t0001g0078 a0001c0002t0003g0043 a0001c0002t0004g0079 a0001c0002t0005g0055 a0001c0002t0007g0034 a0001c0002t0019g0006 a0001c0002t0020g0042 a0001c0002t0024g0031 a0001c0002t0025g0008 a0001c0002t0026g0032 a0001c0003t0002g0036 a0001c0003t0003g0012 a0001c0003t0003g0039 a0001c0003t0004g0004 a0001c0003t0004g0010 a0001c0003t0011g0002 a0001c0003t0011g0011 a0001c0003t0013g0001 a0001c0003t0016g0041 a0001c0003t0018g0020 a0001c0003t0027g0003 a0001c0004t0001g0075 a0001c0004t0002g0026 a0001c0004t0002g0027 a0001c0004t0003g0035 a0001c0004t0003g0037 a0001c0004t0003g0038 a0001c0004t0023g0073 a0001c0005t0004g0046 a0001c0005t0004g0048 a0001c0006t0002g0047 a0001c0006t0021g0049 a0001c0007t0002g0033 a0001c0009t0007g0014 a0001c0010t0022g0050	62	82	0.7561	-17	c.111 others(38): Show c.1114+59707_1114+59723delTTAATATTTGTAAAATA	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA6_chr3_96809594_97766532	97086835	GTACTAAT others(10): Show GTACTAATCTATAATTTA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp2 HG02280.hp2 others(6): Show HG02055.hp2 HG02258.hp2 HG02280.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02965.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 others(6): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0017 a0001c0002t0001 a0001c0002t0004 a0001c0002t0006	a0001c0001t0001g0080 a0001c0001t0009g0076 a0001c0001t0010g0077 others(6): Show a0001c0001t0001g0080 a0001c0001t0009g0076 a0001c0001t0010g0077 a0001c0001t0012g0068 a0001c0001t0015g0082 a0001c0001t0017g0081 a0001c0002t0001g0078 a0001c0002t0004g0079 a0001c0002t0006g0070	9	82	0.1098	-17	c.111 others(38): Show c.1114+98845_1114+98861delCTAATCTATAATTTATA	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA6_chr3_96809594_97766532	97508984	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	82	0.0122	-17	c.220 others(38): Show c.2201-23352_2201-23336delTTTTTTTTTTTTTTTTT	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA7_chr6_93235020_93424559	93273412	CTGACAGA others(10): Show CTGACAGAAAAGCAATTA	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0272 a0001c0003t0010g0272	1	280	0.0036	-17	c.132 others(35): Show c.1325-1007_1325-991delTAATTGCTTTTCTGTCA	EPHA7	ENSG00000135333.15	transcript	ENST00000369303.9	protein_coding	5/16			chr6	TogoVar
EPHA7_chr6_93235020_93424559	93296446	TATATATA others(10): Show TATATATAAATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02451.hp2 HG02717.hp1 others(5): Show HG01891.hp2 HG02451.hp2 HG02717.hp1 HG02886.hp2 HG02922.hp2 HG03041.hp1 HG03486.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0008 a0001c0001 a0001c0007 a0001c0008	a0001c0001t0002 a0001c0007t0006 a0001c0008t0006 others(1): Show a0001c0001t0002 a0001c0007t0006 a0001c0008t0006 a0001c0008t0026	a0001c0001t0002g0169 a0001c0007t0006g0018 a0001c0007t0006g0019 others(5): Show a0001c0001t0002g0169 a0001c0007t0006g0018 a0001c0007t0006g0019 a0001c0007t0006g0021 a0001c0007t0006g0055 a0001c0007t0006g0215 a0001c0008t0006g0167 a0001c0008t0026g0278	8	280	0.0286	-17	c.132 others(38): Show c.1325-24041_1325-24025delTATATATATTTATATAT	EPHA7	ENSG00000135333.15	transcript	ENST00000369303.9	protein_coding	5/16			chr6	TogoVar
EPHB1_chr3_134790260_135265467	134804071	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01169.hp1 HG02280.hp2 others(6): Show HG00733.hp2 HG01169.hp1 HG02280.hp2 HG03492.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 NA18948.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0005 a0001c0002t0010 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0010 a0001c0002t0011 a0001c0003t0005 a0001c0003t0011 a0001c0004t0005	a0001c0001t0001g0126 a0001c0001t0005g0101 a0001c0001t0005g0102 others(6): Show a0001c0001t0001g0126 a0001c0001t0005g0101 a0001c0001t0005g0102 a0001c0002t0010g0095 a0001c0002t0010g0096 a0001c0002t0011g0098 a0001c0003t0005g0099 a0001c0003t0011g0100 a0001c0004t0005g0097	9	134	0.0672	-17	c.58+ others(32): Show c.58+8401_58+8417delTTTTTTTTTTTTTTTTT	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB1_chr3_134790260_135265467	134959966	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01981.hp2 HG00323.hp1 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0016 a0001c0004t0002 a0001c0002t0016 a0001c0004t0002	a0001c0002t0016g0116 a0001c0004t0002g0033 a0001c0002t0016g0116 a0001c0004t0002g0033	2	134	0.0149	-17	c.805 others(34): Show c.805+7940_805+7956delTTTTTTTTTTTTTTTTT	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB1_chr3_134790260_135265467	135183021	TTTTCTTT others(10): Show TTTTCTTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0034 a0001c0003t0001g0034	1	134	0.0075	-17	c.188 others(36): Show c.1882+3047_1882+3063delTCTTTCTTTCTTTCTTT	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB2_chr1_22705839_22926500	22798751	TGTTGTTA others(10): Show TGTTGTTAAATGAGACCA	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0037 a0001c0001t0012g0037	1	248	0.0040	-17	c.811 others(36): Show c.811+13678_811+13694delTGTTAAATGAGACCAGT	EPHB2	ENSG00000133216.17	transcript	ENST00000374630.8	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHX4_chr1_92024985_92068538	92064727	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02630.hp1 HG02698.hp2 others(1): Show HG01884.hp1 HG02630.hp1 HG02698.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0162 a0001c0001t0002g0198 a0001c0001t0002g0201 others(1): Show a0001c0001t0001g0162 a0001c0001t0002g0198 a0001c0001t0002g0201 a0001c0001t0002g0204	4	236	0.0170	-17	c.14 others(28): Show c.1442_*1458delAAAAAAAAAAAAAAAAA	EPHX4	ENSG00000172031.7	transcript	ENST00000370383.5	protein_coding		1190		chr1	TogoVar
EPOR_chr19_11372207_11389314	11379363	CCTGAGGT others(10): Show CCTGAGGTCAGGAGTTTG	C C	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02074.hp1 NA18948.hp1 others(6): Show HG02027.hp2 HG02074.hp1 NA18948.hp1 NA18955.hp2 NA18984.hp1 NA18988.hp2 NA19012.hp1 NA19057.hp1 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0010 a0001c0001t0001g0022	9	404	0.0223	-17	c.828 others(32): Show c.828-602_828-586delCAAACTCCTGACCTCAG	EPOR	ENSG00000187266.14	transcript	ENST00000222139.11	protein_coding	6/7			chr19	TogoVar

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Search Results (Total: 9132 hits)