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
ECE2_chr3_184271022_184298031	184274718	TGAAAGAA others(7): Show TGAAAGAAAGAAAGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	398	0.0025	-14	c.-14 others(25): Show c.-1435_-1422delGAAAGAAAGAAAGA	ECE2	ENSG00000145194.19	transcript	ENST00000404464.8	protein_coding		1303		chr3	TogoVar
ECE2_chr3_184271022_184298031	184296561	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 NA18951.hp1 NA18969.hp2 HG01175.hp2 NA18951.hp1 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0063 a0001c0002t0001g0119 a0001c0001t0001g0003 a0001c0001t0001g0063 a0001c0002t0001g0119	3	398	0.0075	-14	c.43 others(25): Show c.4324_*4337delAAAAAAAAAAAAAA	ECE2	ENSG00000145194.19	transcript	ENST00000404464.8	protein_coding		3531		chr3	TogoVar
ECHDC1_chr6_127283712_127348609	127309480	AACACACA others(7): Show AACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01109.hp2 HG01192.hp2 others(32): Show HG01099.hp1 HG01109.hp2 HG01192.hp2 HG01993.hp1 HG02071.hp1 HG02071.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02523.hp1 HG02922.hp1 HG03017.hp2 NA18612.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18945.hp2 NA18946.hp2 NA18952.hp2 NA18954.hp1 NA18959.hp1 NA18960.hp1 NA18962.hp2 NA18963.hp2 NA18970.hp2 NA18972.hp2 NA18973.hp1 NA18988.hp2 NA18999.hp1 NA19005.hp1 NA19030.hp1 NA19064.hp1 NA19076.hp2 NA19078.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0001 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0031 others(25): Show a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0080 a0001c0001t0001g0097 a0001c0001t0001g0133 a0001c0001t0001g0152 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0169 a0001c0001t0001g0174 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0004g0012 a0001c0001t0004g0040 a0001c0001t0006g0006	35	358	0.0978	-14	c.497 others(31): Show c.497+5322_497+5335delGTGTGTGTGTGTGT	ECHDC1	ENSG00000093144.19	transcript	ENST00000454859.8	protein_coding	5/5			chr6	TogoVar
ECHDC1_chr6_127283712_127348609	127333666	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp2 HG01243.hp1 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0181 a0001c0001t0001g0132 a0001c0001t0001g0181	2	358	0.0056	-14	c.-2- others(29): Show c.-2-2650_-2-2637delGTGTGTGTGTGTGT	ECHDC1	ENSG00000093144.19	transcript	ENST00000454859.8	protein_coding	1/5			chr6	TogoVar
ECHDC2_chr1_52890910_52926740	52896860	TGCCGTCT others(7): Show TGCCGTCTGCAGTGG	T T	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA19006.hp1 NA18946.hp2 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0064 a0001c0001t0001g0051 a0001c0001t0001g0064	2	314	0.0064	-14	c.802 others(29): Show c.802-277_802-264delCCACTGCAGACGGC	ECHDC2	ENSG00000121310.17	transcript	ENST00000371522.9	protein_coding	9/9			chr1	TogoVar
ECHDC2_chr1_52890910_52926740	52910352	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00423.hp1 others(39): Show HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00544.hp2 HG00558.hp1 HG01257.hp2 HG01258.hp1 HG02083.hp2 HG02155.hp2 HG03540.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18954.hp1 NA18960.hp1 NA18962.hp1 NA18964.hp1 NA18968.hp2 NA18971.hp1 NA18973.hp2 NA18981.hp2 NA18983.hp1 NA18986.hp2 NA18992.hp1 NA18994.hp2 NA18997.hp1 NA19000.hp2 NA19011.hp1 NA19012.hp2 NA19056.hp2 NA19058.hp1 NA19064.hp2 NA19065.hp2 NA19075.hp2 NA19079.hp1 NA19088.hp2 NA19090.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0034 others(20): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0150	42	314	0.1338	-14	c.277 others(31): Show c.277+1200_277+1213delAAAAAAAAAAAAAA	ECHDC2	ENSG00000121310.17	transcript	ENST00000371522.9	protein_coding	3/9			chr1	TogoVar
ECHDC3_chr10_11737382_11769070	11749773	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG00738.hp2 others(26): Show HG00140.hp1 HG00639.hp1 HG00738.hp2 HG01081.hp1 HG01081.hp2 HG01123.hp1 HG01255.hp1 HG01358.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01952.hp2 HG02040.hp2 HG02109.hp1 HG02273.hp1 HG02602.hp2 HG02970.hp2 HG02976.hp2 HG03654.hp2 HG03710.hp2 NA18522.hp2 NA18994.hp1 NA19004.hp2 NA19043.hp1 NA19055.hp2 NA19085.hp1 NA19091.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0005 a0002c0010 a0003c0004 others(2): Show a0001c0005 a0002c0010 a0003c0004 a0003c0026 a0007c0014	a0001c0005t0001 a0002c0010t0003 a0003c0004t0001 others(2): Show a0001c0005t0001 a0002c0010t0003 a0003c0004t0001 a0003c0026t0001 a0007c0014t0001	a0001c0005t0001g0014 a0001c0005t0001g0106 a0001c0005t0001g0110 others(15): Show a0001c0005t0001g0014 a0001c0005t0001g0106 a0001c0005t0001g0110 a0001c0005t0001g0193 a0002c0010t0003g0190 a0003c0004t0001g0013 a0003c0004t0001g0014 a0003c0004t0001g0015 a0003c0004t0001g0105 a0003c0004t0001g0107 a0003c0004t0001g0108 a0003c0004t0001g0109 a0003c0004t0001g0114 a0003c0004t0001g0115 a0003c0004t0001g0116 a0003c0026t0001g0101 a0007c0014t0001g0194 a0007c0014t0001g0195	29	420	0.0691	-14	c.390 others(29): Show c.390+208_390+221delTTTTTTTTTTTTTT	ECHDC3	ENSG00000134463.15	transcript	ENST00000379215.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
ECI1_chr16_2234402_2256587	2250261	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01934.hp2 HG01943.hp2 others(7): Show HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02273.hp1 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0080 a0001c0001t0001g0087 others(6): Show a0001c0001t0001g0029 a0001c0001t0001g0080 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093	10	436	0.0229	-14	c.166 others(31): Show c.166+1041_166+1054delTTTTTTTTTTTTTT	ECI1	ENSG00000167969.13	transcript	ENST00000301729.9	protein_coding	2/6			chr16	TogoVar
ECM2_chr9_92490315_92540990	92532020	TTTTTTTT others(7): Show TTTTTTTTTATTTTA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02257.hp1 HG02055.hp1 HG02257.hp1	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0003 a0004c0015t0003	a0004c0015t0003g0070 a0004c0015t0003g0071 a0004c0015t0003g0070 a0004c0015t0003g0071	2	400	0.0050	-14	c.-28 others(31): Show c.-28+3899_-28+3912delTAAAATAAAAAAAA	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECPAS_chr9_111355685_111489383	111407403	GAAAAAAA others(7): Show GAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02523.hp2 HG03490.hp2 others(2): Show HG01978.hp1 HG02523.hp2 HG03490.hp2 NA19012.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0120 a0001c0001t0001g0175 others(2): Show a0001c0001t0001g0078 a0001c0001t0001g0120 a0001c0001t0001g0175 a0001c0001t0001g0193 a0001c0001t0001g0216	5	354	0.0141	-14	c.265 others(33): Show c.2652+1154_2652+1167delTTTTTTTTTTTTTT	ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	24/49			chr9	TogoVar
ECPAS_chr9_111355685_111489383	111421409	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	354	0.0028	-14	c.145 others(31): Show c.1455+498_1455+511delCACACACACACACA	ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	15/49			chr9	TogoVar
ECPAS_chr9_111355685_111489383	111470746	CCACACAC others(7): Show CCACACACACACACA	C C	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	354	0.0028	-14	c.22+ others(29): Show c.22+2137_22+2150delTGTGTGTGTGTGTG	ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	2/49			chr9	TogoVar
ECRG4_chr2_106060688_106083155	106071322	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0059 a0001c0002t0001g0059	1	434	0.0023	-14	c.80- others(27): Show c.80-505_80-492delAAAAAAAAAAAAAA	ECRG4	ENSG00000119147.10	transcript	ENST00000238044.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
ECRG4_chr2_106060688_106083155	106071339	AAAAAAAA others(7): Show AAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01099.hp2 HG01496.hp2 others(19): Show HG00558.hp1 HG01099.hp2 HG01496.hp2 HG01952.hp2 HG01978.hp2 HG02027.hp1 HG02135.hp2 NA18747.hp2 NA18944.hp2 NA18947.hp2 NA18952.hp2 NA18959.hp1 NA18964.hp2 NA18974.hp1 NA18980.hp2 NA18984.hp2 NA19001.hp1 NA19009.hp2 NA19063.hp1 NA19066.hp1 NA19066.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0022 others(11): Show a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0038 a0001c0001t0001g0046 a0001c0001t0001g0126 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0157 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0182 a0001c0001t0001g0224 a0001c0002t0001g0060	22	434	0.0507	-14	c.80- others(27): Show c.80-501_80-488delAAAAAAAAAAGAAA	ECRG4	ENSG00000119147.10	transcript	ENST00000238044.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
ECSCR_chr5_139443560_139467743	139453865	TGTGGTGT others(7): Show TGTGGTGTGTTTGAG	T T	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	369	0.0027	-14	c.512 others(29): Show c.512+723_512+736delCTCAAACACACCAC	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding	8/9			chr5	TogoVar
ECSCR_chr5_139443560_139467743	139455814	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	369	0.0027	-14	c.263 others(29): Show c.263-392_263-379delTTTTTTTTTTTTTT	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding	5/9			chr5	TogoVar
ECSCR_chr5_139443560_139467743	139458500	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(121): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01109.hp1 HG01167.hp2 HG01175.hp2 HG01243.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01496.hp2 HG01517.hp2 HG01884.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp2 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02258.hp2 HG02273.hp1 HG02293.hp2 HG02451.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG03041.hp2 HG03098.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03491.hp2 HG03654.hp1 HG03831.hp2 HG03942.hp1 HG04184.hp2 HG04204.hp1 NA18747.hp1 NA18942.hp1 NA18942.hp2 NA18950.hp2 NA18952.hp2 NA18955.hp2 NA18956.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18985.hp1 NA18985.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp2 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp2 NA19058.hp1 NA19062.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19086.hp1 NA19086.hp2 NA19089.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(37): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0146 a0001c0001t0001g0150	124	369	0.3360	-14	c.62- others(27): Show c.62-331_62-318delTTTTTTTTTTTTTT	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding	1/9			chr5	TogoVar
ECT2L_chr6_138791087_138909070	138882871	GGTAAATG others(7): Show GGTAAATGAGTTTCA	G G	splice_donor_variant others(2): Show splice_donor_variant splice_region_variant intron_variant	HIGH	HG00558.hp2 HG00621.hp1 HG03710.hp1 others(4): Show HG00558.hp2 HG00621.hp1 HG03710.hp1 NA18980.hp1 NA18983.hp2 NA19011.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0002c0002t0001	a0001c0001t0001g0109 a0001c0001t0001g0165 a0001c0001t0001g0266 others(4): Show a0001c0001t0001g0109 a0001c0001t0001g0165 a0001c0001t0001g0266 a0001c0001t0001g0293 a0001c0001t0004g0144 a0001c0001t0006g0256 a0002c0002t0001g0162	7	326	0.0215	-14	c.202 others(28): Show c.2028+1_2028+14delGTAAATGAGTTTCA	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	16/21			chr6	TogoVar
EDARADD_chr1_236389286_236489930	236393391	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0231 a0002c0002t0019g0231	1	294	0.0034	-14	c.-10 others(25): Show c.-1053_-1040delTTTTTTTTTTTTTT	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding		894		chr1	TogoVar
EDARADD_chr1_236389286_236489930	236405741	CTTTCTTT others(7): Show CTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG06807.hp1 NA19043.hp1 HG02809.hp2 HG06807.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0007 a0002c0002t0006 a0002c0002t0007	a0002c0002t0006g0239 a0002c0002t0007g0224 a0002c0002t0007g0240 a0002c0002t0006g0239 a0002c0002t0007g0224 a0002c0002t0007g0240	3	294	0.0102	-14	c.62- others(29): Show c.62-3473_62-3460delTTCTTTCTTTCTTT	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236405911	TTCTTTCT others(7): Show TTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00438.hp2 others(14): Show HG00280.hp1 HG00423.hp1 HG00438.hp2 HG01258.hp1 HG01891.hp2 HG01975.hp2 HG02300.hp2 HG02602.hp1 HG03017.hp1 HG03017.hp2 HG03492.hp2 HG03688.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp2 NA18953.hp2 NA19054.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0003t0001 a0001c0005t0005 a0002c0002t0003 a0003c0006t0001	a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0103 others(14): Show a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0103 a0001c0001t0001g0160 a0001c0001t0001g0210 a0001c0001t0002g0096 a0001c0001t0002g0173 a0001c0001t0003g0206 a0001c0001t0003g0219 a0001c0001t0013g0204 a0001c0003t0001g0034 a0001c0003t0001g0037 a0001c0005t0005g0035 a0002c0002t0003g0264 a0002c0002t0003g0267 a0002c0002t0003g0271 a0003c0006t0001g0190	17	294	0.0578	-14	c.62- others(29): Show c.62-3298_62-3285delTTTCTTTCTCTTTC	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236447237	TCTTTCCT others(7): Show TCTTTCCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02486.hp1 HG02818.hp2 HG02109.hp2 HG02486.hp1 HG02818.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0002 a0001c0001t0004 a0002c0002t0002	a0001c0001t0004g0122 a0002c0002t0002g0222 a0002c0002t0002g0286 a0001c0001t0004g0122 a0002c0002t0002g0222 a0002c0002t0002g0286	3	294	0.0102	-14	c.219 others(33): Show c.219+19793_219+19806delCTTTCTTTCCTTTC	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDA_chrX_69611113_70044472	69810257	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0027 a0001c0001t0014g0027	1	226	0.0044	-14	c.397 others(35): Show c.397-146737_397-146724delAAAAAAAAAAAAAA	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDA_chrX_69611113_70044472	69849080	TATACACA others(7): Show TATACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA18906.hp1 NA19240.hp1 HG02976.hp1 NA18906.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0097 a0001c0001t0002g0038 a0001c0001t0002g0076 a0001c0001t0001g0097 a0001c0001t0002g0038 a0001c0001t0002g0076	3	226	0.0133	-14	c.397 others(35): Show c.397-107945_397-107932delTACACACACACACA	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDA_chrX_69611113_70044472	69851157	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG04228.hp1 HG02602.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0143 a0001c0001t0002g0089 a0001c0001t0001g0143 a0001c0001t0002g0089	2	226	0.0089	-14	c.397 others(35): Show c.397-105857_397-105844delTGTGTGTGTGTGTG	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDA_chrX_69611113_70044472	69885175	TCTTTTAT others(7): Show TCTTTTATTGTGGTA	T T	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0096 a0001c0001t0003g0096	1	226	0.0044	-14	c.397 others(33): Show c.397-71851_397-71838delCTTTTATTGTGGTA	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7			chrX	TogoVar
EDA_chrX_69611113_70044472	69910374	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00609.hp1 HG00673.hp1 others(28): Show HG00438.hp1 HG00609.hp1 HG00673.hp1 HG01433.hp1 HG01496.hp2 HG01891.hp1 HG02071.hp1 HG02074.hp1 HG02559.hp1 HG02622.hp1 HG02647.hp1 HG02723.hp1 HG03130.hp1 NA18522.hp1 NA18906.hp2 NA18948.hp1 NA18951.hp2 NA18952.hp1 NA18961.hp1 NA18965.hp1 NA18983.hp1 NA18985.hp1 NA18986.hp1 NA18993.hp2 NA18998.hp1 NA19004.hp1 NA19009.hp1 NA19012.hp1 NA19058.hp1 NA19082.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0019 a0003c0003t0001	a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0001g0094 others(28): Show a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0001g0094 a0001c0001t0001g0113 a0001c0001t0001g0133 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0187 a0001c0001t0001g0198 a0001c0001t0002g0037 a0001c0001t0002g0155 a0001c0001t0002g0164 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0003g0110 a0001c0001t0003g0112 a0001c0001t0003g0121 a0001c0001t0003g0158 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0185 a0001c0001t0004g0128 a0001c0001t0011g0134 a0001c0001t0019g0161 a0003c0003t0001g0109	31	226	0.1372	-14	c.397 others(33): Show c.397-46614_397-46601delGTGTGTGTGTGTGT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDA_chrX_69611113_70044472	69956297	TTCTTTCT others(7): Show TTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02717.hp1 HG01243.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0197 a0001c0001t0002g0125 a0001c0001t0001g0197 a0001c0001t0002g0125	2	226	0.0089	-14	c.397 others(29): Show c.397-722_397-709delTTCTTTCTCTTTCT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDC3_chr15_74625558_74701024	74670010	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00558.hp2 others(95): Show HG00099.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG01069.hp2 HG01071.hp1 HG01106.hp1 HG01257.hp1 HG01261.hp1 HG01361.hp1 HG01515.hp1 HG01516.hp2 HG01884.hp2 HG01928.hp1 HG01943.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02040.hp1 HG02055.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02155.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02630.hp2 HG02647.hp1 HG02809.hp2 HG02886.hp1 HG02965.hp1 HG02965.hp2 HG03017.hp2 HG03041.hp1 HG03453.hp2 HG03710.hp2 HG03831.hp2 HG03942.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18747.hp1 NA18943.hp2 NA18945.hp1 NA18948.hp1 NA18951.hp2 NA18952.hp2 NA18957.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp2 NA18972.hp2 NA18977.hp2 NA18983.hp1 NA18986.hp2 NA18987.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18994.hp1 NA18997.hp1 NA18998.hp2 NA19002.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19054.hp1 NA19056.hp2 NA19058.hp2 NA19062.hp2 NA19063.hp2 NA19066.hp1 NA19074.hp1 NA19081.hp1 NA19082.hp1 NA19085.hp2 NA19087.hp2 NA20300.hp2 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0002t0002 a0001c0003t0002 a0001c0005t0002 a0003c0006t0002	a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 others(94): Show a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0268 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0046 a0001c0001t0002g0052 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0269 a0001c0001t0004g0002 a0001c0001t0004g0260 a0001c0001t0004g0261 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0006g0235 a0001c0002t0002g0227 a0001c0002t0002g0267 a0001c0003t0002g0180 a0001c0005t0002g0191 a0003c0006t0002g0204	98	286	0.3427	-14	c.484 others(31): Show c.484+1431_484+1444delAAAAAAAAAAAAAA	EDC3	ENSG00000179151.13	transcript	ENST00000315127.9	protein_coding	3/6			chr15	TogoVar
EDDM13_chr19_56267748_56315454	56302608	TCTCCCTC others(7): Show TCTCCCTCTTCCTCC	T T	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	396	0.0025	-14	c.423 others(29): Show c.423+521_423+534delTTCCTCCCTCCCTC	EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
EDEM2_chr20_35110364_35152336	35115087	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01109.hp1 HG01884.hp2 others(37): Show HG00741.hp1 HG01109.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG03579.hp2 NA18522.hp1 NA19030.hp1 NA19043.hp1 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0001t0001 a0001c0002t0001 a0001c0005t0001	a0001c0001t0001g0015 a0001c0001t0001g0052 a0001c0001t0001g0222 others(26): Show a0001c0001t0001g0015 a0001c0001t0001g0052 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0002t0001g0003 a0001c0002t0001g0018 a0001c0002t0001g0110 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0171 a0001c0002t0001g0177 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0189 a0001c0002t0001g0224 a0001c0005t0001g0182	40	332	0.1205	-14	c.33 others(23): Show c.332_*345delTTTTTTTTTTTTTT	EDEM2	ENSG00000088298.13	transcript	ENST00000374492.8	protein_coding		276		chr20	TogoVar
EDEM2_chr20_35110364_35152336	35141119	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02809.hp2 HG03209.hp2 HG02630.hp2 HG02809.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168	3	332	0.0090	-14	c.364 others(31): Show c.364+1240_364+1253delTTTTTTTTTTTTTT	EDEM2	ENSG00000088298.13	transcript	ENST00000374492.8	protein_coding	4/10			chr20	TogoVar
EDEM3_chr1_184685237_184759858	184744249	AATATATA others(7): Show AATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01978.hp2 HG02257.hp2 others(7): Show HG01358.hp1 HG01978.hp2 HG02257.hp2 HG02615.hp2 HG02717.hp1 HG02970.hp1 HG03225.hp2 HG03486.hp1 HG03579.hp2 HG03688.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0003 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0003t0003 a0002c0002t0002 a0002c0002t0037	a0001c0001t0001g0091 a0001c0003t0003g0007 a0001c0003t0003g0054 others(6): Show a0001c0001t0001g0091 a0001c0003t0003g0007 a0001c0003t0003g0054 a0001c0003t0003g0057 a0001c0003t0003g0066 a0001c0003t0003g0067 a0001c0003t0003g0068 a0002c0002t0002g0255 a0002c0002t0037g0249	10	324	0.0309	-14	c.204 others(31): Show c.204+5284_204+5297delATATATATATATAT	EDEM3	ENSG00000116406.20	transcript	ENST00000318130.13	protein_coding	2/19			chr1	TogoVar
EDIL3_chr5_83935554_84389880	83970643	GTATATAT others(7): Show GTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02145.hp1 HG02486.hp1 others(9): Show HG02083.hp2 HG02145.hp1 HG02486.hp1 HG02615.hp2 HG02683.hp1 HG03041.hp2 HG03130.hp2 HG03471.hp1 HG03492.hp2 HG03669.hp2 HG03704.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0014 a0001c0003t0001	a0001c0001t0001g0070 a0001c0001t0001g0097 a0001c0001t0001g0147 others(9): Show a0001c0001t0001g0070 a0001c0001t0001g0097 a0001c0001t0001g0147 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0132 a0001c0001t0004g0055 a0001c0001t0004g0124 a0001c0002t0014g0068 a0001c0003t0001g0058 a0001c0003t0001g0083 a0001c0003t0001g0150	12	158	0.0760	-14	c.113 others(33): Show c.1138-7297_1138-7284delTATATATATATATA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	9/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84070606	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	158	0.0063	-14	c.652 others(31): Show c.652-4014_652-4001delACACACACACACAC	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	6/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84176198	AATATATA others(7): Show AATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02280.hp1 HG02451.hp2 others(6): Show HG01109.hp1 HG02280.hp1 HG02451.hp2 HG02922.hp2 HG02970.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0017 a0001c0001t0020 a0001c0003t0001 a0001c0004t0003	a0001c0001t0001g0035 a0001c0001t0003g0060 a0001c0001t0004g0055 others(6): Show a0001c0001t0001g0035 a0001c0001t0003g0060 a0001c0001t0004g0055 a0001c0001t0006g0040 a0001c0001t0006g0041 a0001c0001t0017g0015 a0001c0001t0020g0158 a0001c0003t0001g0150 a0001c0004t0003g0152	9	158	0.0570	-14	c.355 others(31): Show c.355+4181_355+4194delATATATATATATAT	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	4/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84190579	GTATATAT others(7): Show GTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA18747.hp1 NA18957.hp1 HG02129.hp2 NA18747.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0013 a0001c0002t0002 a0001c0001t0003 a0001c0001t0013 a0001c0002t0002	a0001c0001t0003g0110 a0001c0001t0013g0100 a0001c0002t0002g0099 a0001c0001t0003g0110 a0001c0001t0013g0100 a0001c0002t0002g0099	3	158	0.0190	-14	c.227 others(33): Show c.227-10072_227-10059delTATATATATATATA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	3/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84230763	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0132	1	158	0.0063	-14	c.197 others(29): Show c.197-893_197-880delCACACACACACACA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	2/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84354818	CATTTCCT others(7): Show CATTTCCTTATAAGA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03209.hp2 HG03471.hp1 HG01891.hp1 HG03209.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0001t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0001g0094 a0001c0001t0002g0084 a0001c0003t0001g0083 a0001c0001t0001g0094 a0001c0001t0002g0084 a0001c0003t0001g0083	3	158	0.0190	-14	c.67+ others(31): Show c.67+29476_67+29489delTCTTATAAGGAAAT	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	1/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84371373	GTATGTGT others(7): Show GTATGTGTGTATATA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0077 a0001c0001t0003g0077	1	158	0.0063	-14	c.67+ others(31): Show c.67+12921_67+12934delTATATACACACATA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	1/10			chr5	TogoVar
EDNRA_chr4_147476097_147549954	147505326	CATTTTTT others(7): Show CATTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0096 a0001c0002t0018g0096	1	280	0.0036	-14	c.421 others(33): Show c.421-14524_421-14511delATTTTTTTTTTTTT	EDNRA	ENSG00000151617.17	transcript	ENST00000651419.1	protein_coding	2/7			chr4	TogoVar
EEA1_chr12_92765637_92934295	92869752	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0062 a0001c0001t0050g0062	1	244	0.0041	-14	c.118 others(31): Show c.118-4779_118-4766delTTTTTTTTTTTTTT	EEA1	ENSG00000102189.17	transcript	ENST00000322349.13	protein_coding	2/28			chr12	TogoVar
EEA1_chr12_92765637_92934295	92886557	GGAAGGGA others(7): Show GGAAGGGAGGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02723.hp1 HG03041.hp1 others(8): Show HG00738.hp1 HG02723.hp1 HG03041.hp1 HG03688.hp2 NA18939.hp2 NA18964.hp1 NA19054.hp2 NA19062.hp2 NA19068.hp2 NA19240.hp2 NA20805.hp1	a0004 a0005 a0004 a0005	a0004c0006 a0005c0007 a0004c0006 a0005c0007	a0004c0006t0008 a0004c0006t0021 a0004c0006t0022 others(1): Show a0004c0006t0008 a0004c0006t0021 a0004c0006t0022 a0005c0007t0008	a0004c0006t0008g0002 a0004c0006t0008g0006 a0004c0006t0008g0007 others(8): Show a0004c0006t0008g0002 a0004c0006t0008g0006 a0004c0006t0008g0007 a0004c0006t0008g0011 a0004c0006t0021g0012 a0004c0006t0022g0004 a0005c0007t0008g0003 a0005c0007t0008g0005 a0005c0007t0008g0008 a0005c0007t0008g0009 a0005c0007t0008g0010	11	244	0.0451	-14	c.117 others(31): Show c.117+5058_117+5071delTCTCCCCTCCCTTC	EEA1	ENSG00000102189.17	transcript	ENST00000322349.13	protein_coding	2/28			chr12	TogoVar
EEF1A2_chr20_63483014_63504083	63503442	GGGTCCAG others(7): Show GGGTCCAGTGTCTGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG01081.hp1 HG01934.hp2 others(30): Show HG00673.hp1 HG01081.hp1 HG01934.hp2 HG01981.hp2 HG01993.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02293.hp1 HG02300.hp1 HG02559.hp1 HG02572.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02976.hp2 HG03209.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03579.hp2 HG03688.hp2 HG04115.hp1 HG04184.hp1 NA18522.hp1 NA18970.hp2 NA19067.hp2 NA19074.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0016	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0009t0001 a0001c0016t0001	a0001c0001t0001g0023 a0001c0001t0001g0050 a0001c0001t0001g0051 others(20): Show a0001c0001t0001g0023 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0002t0001g0052 a0001c0002t0001g0161 a0001c0002t0001g0166 a0001c0004t0001g0004 a0001c0004t0001g0033 a0001c0004t0001g0064 a0001c0004t0001g0068 a0001c0004t0001g0074 a0001c0004t0001g0075 a0001c0004t0001g0077 a0001c0004t0001g0078 a0001c0005t0001g0016 a0001c0005t0001g0135 a0001c0006t0001g0034 a0001c0009t0001g0031 a0001c0009t0001g0060 a0001c0016t0001g0082	33	374	0.0882	-14	c.-44 others(25): Show c.-4470_-4457delACAGACACTGGACC	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		4360		chr20	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124772420	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG04184.hp2 HG01975.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0272 a0001c0001t0002g0275 a0001c0001t0002g0272 a0001c0001t0002g0275	2	358	0.0056	-14	c.399 others(31): Show c.399+2241_399+2254delAAAAAAAAAAAAAA	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124795595	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG02258.hp1 HG02886.hp1 others(1): Show HG00621.hp2 HG02258.hp1 HG02886.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0001 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0219 a0001c0001t0004g0308 a0001c0001t0004g0316 others(1): Show a0001c0001t0001g0219 a0001c0001t0004g0308 a0001c0001t0004g0316 a0001c0001t0005g0284	4	358	0.0112	-14	c.-37 others(25): Show c.-3776_-3763delAAAAAAAAAAAAAA	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding		3709		chr10	TogoVar
EEF1AKMT4_chr3_184244672_184263759	184263637	AAGAGAGA others(7): Show AAGAGAGAGAGAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG03453.hp1 NA18970.hp1 HG02109.hp2 HG03453.hp1 NA18970.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0004c0006t0001 a0001c0001t0001 a0004c0006t0001	a0001c0001t0001g0001 a0004c0006t0001g0004 a0001c0001t0001g0001 a0004c0006t0001g0004	3	378	0.0079	-14	c.50 others(25): Show c.5063_*5076delAGAGAGAGAGAGAG	EEF1AKMT4	ENSG00000284753.2	transcript	ENST00000324557.9	protein_coding		4879		chr3	TogoVar
EEF1E1_chr6_8074395_8107548	8099751	AACACACA others(7): Show AACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02572.hp1 HG02809.hp2 others(6): Show HG01081.hp1 HG02572.hp1 HG02809.hp2 HG03195.hp1 HG03471.hp2 NA18950.hp1 NA18955.hp1 NA18960.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0067 a0001c0001t0001g0074 others(5): Show a0001c0001t0001g0014 a0001c0001t0001g0067 a0001c0001t0001g0074 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0177 a0001c0001t0001g0222 a0001c0001t0001g0248	9	442	0.0204	-14	c.88- others(29): Show c.88-2298_88-2285delGTGTGTGTGTGTGT	EEF1E1	ENSG00000124802.12	transcript	ENST00000379715.10	protein_coding	1/3			chr6	TogoVar
EEFSEC_chr3_128148481_128413646	128178540	TCTTTCGG others(7): Show TCTTTCGGGGGCAGG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG01070.hp2 others(39): Show HG00140.hp2 HG00323.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01175.hp2 HG01192.hp2 HG01361.hp2 HG01496.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp2 HG02145.hp2 HG02165.hp2 HG02273.hp2 HG02523.hp1 HG02602.hp2 HG02615.hp1 HG02698.hp2 HG03490.hp2 HG03704.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp2 NA18948.hp2 NA18952.hp2 NA18969.hp2 NA18971.hp2 NA18980.hp2 NA18982.hp2 NA18998.hp2 NA19011.hp2 NA19054.hp2 NA19060.hp2 NA19065.hp2 NA19078.hp2 NA20300.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0011 a0001c0001 a0004c0011	a0001c0001t0001 a0004c0011t0001 a0001c0001t0001 a0004c0011t0001	a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 others(39): Show a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0004c0011t0001g0251	42	272	0.1544	-14	c.316 others(33): Show c.316+24719_316+24732delTTTCGGGGGCAGGC	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128207566	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	272	0.0037	-14	c.317 others(33): Show c.317-39245_317-39232delACACACACACACAC	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar

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