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
EIF3A_chr10_119028670_119085817	119052368	T T	TGTGTGTG others(18): Show TGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0023 a0001c0002t0003g0023	1	350	0.0029	25	c.219 others(44): Show c.2197-1048_2197-1047insCACACACACACACACACACACACAC	EIF3A	ENSG00000107581.14	transcript	ENST00000369144.8	protein_coding	14/21			chr10	TogoVar
EIF3K_chr19_38614188_38641954	38637325	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02622.hp1 HG02886.hp1 HG02280.hp1 HG02622.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0001 a0001c0001t0001g0003	3	400	0.0075	25	c.40 others(34): Show c.405_*406insTTTTTTTTTTTTTTTTTTTTTTTTT	EIF3K	ENSG00000178982.10	transcript	ENST00000248342.9	protein_coding		372		chr19	TogoVar
EIF3L_chr22_37844419_37894407	37868634	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03041.hp2 HG03453.hp2 others(1): Show HG02647.hp1 HG03041.hp2 HG03453.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0130 a0001c0001t0001g0134 others(1): Show a0001c0001t0001g0100 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0233	4	318	0.0126	25	c.580 others(42): Show c.580-1541_580-1517dupTTTTTTTTTTTTTTTTTTTTTTTTT	EIF3L	ENSG00000100129.18	transcript	ENST00000652021.1	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
EIF4B_chr12_53001456_53047215	53027136	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	372	0.0027	25	c.668 others(40): Show c.668-646_668-645insTTTTTTTTTTTTTTTTTTTTTTTTT	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding	6/14			chr12	TogoVar
EIF4B_chr12_53001456_53047215	53030413	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02027.hp1 HG03239.hp1 others(2): Show HG01433.hp2 HG02027.hp1 HG03239.hp1 NA18948.hp1 NA19000.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0004c0008t0001 a0001c0001t0001 a0001c0001t0002 a0004c0008t0001	a0001c0001t0001g0055 a0001c0001t0001g0076 a0001c0001t0001g0129 others(2): Show a0001c0001t0001g0055 a0001c0001t0001g0076 a0001c0001t0001g0129 a0001c0001t0002g0207 a0004c0008t0001g0152	5	372	0.0134	25	c.979 others(42): Show c.979+2226_979+2250dupTTTTTTTTTTTTTTTTTTTTTTTTT	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
EIF4B_chr12_53001456_53047215	53035987	T T	TTTTGTAT others(18): Show TTTTGTATTTTCAATAGAGACGCAGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00544.hp2 others(101): Show HG00423.hp1 HG00423.hp2 HG00544.hp2 HG01099.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG01255.hp2 HG01884.hp1 HG01891.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02083.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02258.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03710.hp2 HG04115.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18943.hp1 NA18944.hp2 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18967.hp1 NA18975.hp1 NA18979.hp1 NA18980.hp1 NA18988.hp2 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA19000.hp1 NA19001.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19060.hp1 NA19062.hp1 NA19064.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0001c0005 others(1): Show a0001c0002 a0001c0003 a0001c0005 a0003c0009	a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 others(14): Show a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0009 a0001c0002t0011 a0001c0002t0012 a0001c0002t0015 a0001c0002t0018 a0001c0002t0019 a0001c0002t0020 a0001c0002t0025 a0001c0002t0026 a0001c0003t0005 a0001c0005t0005 a0001c0005t0013 a0003c0009t0015	a0001c0002t0003g0006 a0001c0002t0003g0007 a0001c0002t0003g0010 others(95): Show a0001c0002t0003g0006 a0001c0002t0003g0007 a0001c0002t0003g0010 a0001c0002t0003g0271 a0001c0002t0003g0305 a0001c0002t0003g0306 a0001c0002t0003g0307 a0001c0002t0003g0308 a0001c0002t0003g0309 a0001c0002t0003g0310 a0001c0002t0003g0311 a0001c0002t0003g0313 a0001c0002t0003g0314 a0001c0002t0003g0315 a0001c0002t0003g0316 a0001c0002t0003g0320 a0001c0002t0003g0344 a0001c0002t0003g0345 a0001c0002t0003g0346 a0001c0002t0003g0347 a0001c0002t0003g0348 a0001c0002t0003g0349 a0001c0002t0003g0350 a0001c0002t0003g0351 a0001c0002t0003g0352 a0001c0002t0003g0353 a0001c0002t0003g0354 a0001c0002t0003g0356 a0001c0002t0003g0357 a0001c0002t0003g0358 a0001c0002t0003g0362 a0001c0002t0004g0005 a0001c0002t0004g0274 a0001c0002t0004g0275 a0001c0002t0004g0276 a0001c0002t0004g0277 a0001c0002t0004g0279 a0001c0002t0004g0280 a0001c0002t0004g0282 a0001c0002t0004g0283 a0001c0002t0004g0284 a0001c0002t0004g0286 a0001c0002t0004g0287 a0001c0002t0004g0288 a0001c0002t0004g0289 a0001c0002t0004g0291 a0001c0002t0004g0293 a0001c0002t0004g0294 a0001c0002t0004g0295 a0001c0002t0004g0296 a0001c0002t0004g0297 a0001c0002t0004g0298 a0001c0002t0004g0299 a0001c0002t0004g0300 a0001c0002t0004g0301 a0001c0002t0004g0302 a0001c0002t0004g0303 a0001c0002t0005g0008 a0001c0002t0005g0322 a0001c0002t0005g0324 a0001c0002t0005g0329 a0001c0002t0005g0331 a0001c0002t0005g0332 a0001c0002t0005g0333 a0001c0002t0005g0335 a0001c0002t0007g0270 a0001c0002t0007g0336 a0001c0002t0007g0337 a0001c0002t0007g0338 a0001c0002t0007g0339 a0001c0002t0007g0340 a0001c0002t0009g0318 a0001c0002t0009g0319 a0001c0002t0009g0341 a0001c0002t0011g0359 a0001c0002t0011g0360 a0001c0002t0011g0361 a0001c0002t0012g0273 a0001c0002t0012g0285 a0001c0002t0012g0290 a0001c0002t0015g0281 a0001c0002t0018g0292 a0001c0002t0019g0278 a0001c0002t0020g0342 a0001c0002t0025g0355 a0001c0002t0026g0343 a0001c0003t0005g0321 a0001c0003t0005g0323 a0001c0003t0005g0325 a0001c0003t0005g0326 a0001c0003t0005g0327 a0001c0003t0005g0328 a0001c0003t0005g0330 a0001c0005t0005g0009 a0001c0005t0013g0272 a0001c0005t0013g0312 a0001c0005t0013g0334 a0003c0009t0015g0304	104	372	0.2796	25	c.130 others(44): Show c.1306+1282_1306+1283insTATTTTCAATAGAGACGCAGATTTG	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
EIF4B_chr12_53001456_53047215	53035987	T T	TTTTGTAT others(18): Show TTTTGTATTTTTAATAGAGACGCAGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(264): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18988.hp1 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19076.hp1 NA19076.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0006 a0001c0007 others(2): Show a0001c0001 a0001c0006 a0001c0007 a0002c0004 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0006t0001 a0001c0007t0001 a0002c0004t0001 a0002c0004t0010 a0004c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0011 others(260): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0269 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0013 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0034 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0182 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0006g0016 a0001c0001t0006g0032 a0001c0001t0006g0033 a0001c0001t0006g0036 a0001c0001t0006g0037 a0001c0001t0006g0245 a0001c0001t0006g0246 a0001c0001t0008g0031 a0001c0001t0008g0035 a0001c0001t0008g0181 a0001c0001t0008g0183 a0001c0001t0008g0199 a0001c0001t0010g0144 a0001c0001t0010g0150 a0001c0001t0014g0014 a0001c0001t0014g0071 a0001c0001t0016g0092 a0001c0001t0017g0079 a0001c0001t0021g0025 a0001c0001t0022g0263 a0001c0001t0023g0159 a0001c0001t0024g0228 a0001c0001t0027g0184 a0001c0001t0028g0224 a0001c0001t0029g0196 a0001c0006t0001g0125 a0001c0006t0001g0153 a0001c0007t0001g0101 a0002c0004t0001g0052 a0002c0004t0001g0103 a0002c0004t0001g0105 a0002c0004t0001g0117 a0002c0004t0010g0050 a0004c0008t0001g0152	267	372	0.7177	25	c.130 others(44): Show c.1306+1282_1306+1283insTATTTTTAATAGAGACGCAGATTTG	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
EIF4EBP1_chr8_38025534_38065365	38032227	T T	TCTGGCCC others(18): Show TCTGGCCCGGGTACCAAGGTTCACAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01243.hp2 HG02258.hp2 others(22): Show HG00408.hp2 HG01243.hp2 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02622.hp2 HG02717.hp2 HG02895.hp1 HG02965.hp1 HG02970.hp1 HG03017.hp2 HG03098.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03516.hp2 HG04115.hp1 NA18522.hp1 NA18906.hp1 NA18941.hp1 NA18942.hp2 NA18947.hp1 NA18952.hp2 NA19057.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0022 others(13): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060	25	344	0.0727	25	c.145 others(42): Show c.145+1513_145+1537dupGCCCGGGTACCAAGGTTCACACCTG	EIF4EBP1	ENSG00000187840.5	transcript	ENST00000338825.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAAAT others(18): Show AAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0300 a0001c0003t0001g0300	1	366	0.0027	25	c.299 others(40): Show c.299-733_299-732insATATATATATATATATATATTTTTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIF4G3_chr1_20801479_21181897	20814748	T T	TCTCCCTC others(18): Show TCTCCCTCTCCCCCTCCCCCCTCCCC	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0028 a0001c0001t0003g0028	1	312	0.0032	25	c.451 others(44): Show c.4516-1510_4516-1509insGGGGAGGGGGGAGGGGGAGAGGGAG	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	34/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20814770	C C	CCCCCTCC others(18): Show CCCCCTCCCCCTCCCCCTCCCCCTCT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	312	0.0032	25	c.451 others(44): Show c.4516-1532_4516-1531insAGAGGGGGAGGGGGAGGGGGAGGGG	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	34/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20814776	C C	CCCCTCCC others(18): Show CCCCTCCCCCTCCCCCCTCTCCCTCT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0073 a0001c0001t0018g0073	1	312	0.0032	25	c.451 others(44): Show c.4516-1538_4516-1537insAGAGGGAGAGGGGGGAGGGGGAGGG	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	34/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20989056	A A	AGGAGGGG others(18): Show AGGAGGGGAGGGGAGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0240 a0001c0001t0003g0240	1	312	0.0032	25	c.178 others(42): Show c.178-6673_178-6649dupCCTCCCCTCCCCTCCCCTCCCCTCC	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	7/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21068375	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	312	0.0032	25	c.-19 others(46): Show c.-195-17406_-195-17382dupTTTTTTTTTTTTTTTTTTTTTTTT T	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	3/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21117736	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	312	0.0032	25	c.-27 others(46): Show c.-271-28548_-271-28524dupTTTTTTTTTTTTTTTTTTTTTTTT T	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	2/36			chr1	TogoVar
EIF5B_chr2_99332389_99406326	99355492	T T	TTTTTACA others(18): Show TTTTTACATATTTTGTTAGATTTCCA	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18966.hp2 NA18993.hp1 others(1): Show HG02132.hp1 NA18966.hp2 NA18993.hp1 NA18994.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0005 a0002c0001t0002 a0002c0001t0005	a0002c0001t0002g0241 a0002c0001t0002g0247 a0002c0001t0002g0272 others(1): Show a0002c0001t0002g0241 a0002c0001t0002g0247 a0002c0001t0002g0272 a0002c0001t0005g0222	4	342	0.0117	25	c.36- others(40): Show c.36-4744_36-4743insTTTTACATATTTTGTTAGATTTCCA	EIF5B	ENSG00000158417.12	transcript	ENST00000289371.11	protein_coding	1/23			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3349616	C C	CGGGAGAC others(18): Show CGGGAGACAGGGACAGGGAGCATGCT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	250	0.0040	25	c.126 others(42): Show c.126+4909_126+4933dupAGCATGCTCCCTGTCCCTGTCTCCC	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	2/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3355812	T T	TAAATAAA others(18): Show TAAATAAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0192 a0001c0001t0002g0192	1	250	0.0040	25	c.43- others(40): Show c.43-1204_43-1180dupTATTTTATTTTATTTTATTTTATTT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	1/8			chr2	TogoVar
ELAC1_chr18_50963040_50993121	50964979	T T	TTATATAT others(18): Show TTATATATATTTACATACTACAATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	384	0.0026	25	c.-31 others(36): Show c.-3144_-3143insTATATATATTTACATACTACAATGC	ELAC1	ENSG00000141642.9	transcript	ENST00000269466.8	protein_coding		3060		chr18	TogoVar
ELAC2_chr17_12986612_13023027	13022550	C C	CTTCCTTC others(18): Show CTTCCTTCCTTCCTTCCTTCCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02965.hp2 HG02486.hp2 HG02965.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0017 a0002c0007t0039 a0002c0007t0017 a0002c0007t0039	a0002c0007t0017g0032 a0002c0007t0039g0084 a0002c0007t0017g0032 a0002c0007t0039g0084	2	400	0.0050	25	c.-46 others(36): Show c.-4604_-4603insAGGAAGGAAGGAAGGAAGGAAGGAA	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding		4524		chr17	TogoVar
ELAPOR1_chr1_109109115_109211781	109144061	A A	ATATATAT others(18): Show ATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0033 a0002c0014t0033	a0002c0014t0033g0210 a0002c0014t0033g0210	1	230	0.0044	25	c.154 others(44): Show c.154-17832_154-17831insATATATATATTTTTTTTTTTTTTTT	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAVL2_chr9_23685104_23831240	23702951	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0347 a0001c0001t0001g0347	1	352	0.0028	25	c.488 others(42): Show c.488-1372_488-1348dupTTTTTTTTTTTTTTTTTTTTTTTTT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	4/6			chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23735105	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG03225.hp1 NA18950.hp2 others(2): Show HG00735.hp1 HG03225.hp1 NA18950.hp2 NA18980.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0019 a0001c0001t0001 a0001c0001t0003 a0001c0001t0019	a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0245 others(2): Show a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0245 a0001c0001t0003g0249 a0001c0001t0019g0251	5	352	0.0142	25	c.230 others(42): Show c.230-3981_230-3980insTTTTTTTTTTTTTTTTTTTTTTTTT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	2/6			chr9	TogoVar
ELF2_chr4_139052265_139182218	139092413	A A	AAACATAA others(18): Show AAACATAACATAACATAACATAACAT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0186 a0001c0001t0002g0186	1	342	0.0029	25	c.239 others(44): Show c.239-18847_239-18846insATGTTATGTTATGTTATGTTATGTT	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELF2_chr4_139052265_139182218	139092414	T T	TAACAAAC others(18): Show TAACAAACATAACATAACATAACATA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00741.hp2 HG01106.hp2 others(10): Show HG00544.hp2 HG00741.hp2 HG01106.hp2 HG01884.hp2 HG02155.hp1 HG02572.hp1 HG02647.hp2 HG02976.hp1 HG03579.hp2 NA18972.hp1 NA18974.hp2 NA18988.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0092 others(10): Show a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0092 a0001c0001t0001g0136 a0001c0001t0001g0196 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0325 a0001c0001t0002g0149 a0001c0001t0002g0154 a0001c0001t0002g0158	13	342	0.0380	25	c.239 others(44): Show c.239-18848_239-18847insTATGTTATGTTATGTTATGTTTGTT	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELF2_chr4_139052265_139182218	139092414	T T	TAACATAA others(18): Show TAACATAACAAACATAACATAACATA	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18992.hp2 NA19240.hp1 others(1): Show HG00597.hp1 NA18992.hp2 NA19240.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0164 a0001c0001t0002g0169 a0001c0001t0002g0300 others(1): Show a0001c0001t0002g0164 a0001c0001t0002g0169 a0001c0001t0002g0300 a0002c0002t0002g0198	4	342	0.0117	25	c.239 others(44): Show c.239-18848_239-18847insTATGTTATGTTATGTTTGTTATGTT	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELF2_chr4_139052265_139182218	139114561	T T	TCCAGTCT others(18): Show TCCAGTCTCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01169.hp1 HG01255.hp1 others(4): Show HG00597.hp1 HG01169.hp1 HG01255.hp1 HG01891.hp2 HG02523.hp1 HG03834.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0247 a0001c0001t0001g0262 a0001c0001t0001g0288 others(4): Show a0001c0001t0001g0247 a0001c0001t0001g0262 a0001c0001t0001g0288 a0001c0001t0001g0291 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0002g0300	7	342	0.0205	25	c.238 others(44): Show c.238+10602_238+10603insTGTGTGTGTGTGTGTGTGAGACTGG	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELF2_chr4_139052265_139182218	139151032	A A	AAAAAGAA others(18): Show AAAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	342	0.0029	25	c.-25 others(46): Show c.-251-11536_-251-11535insCTTTCTTTCTTTCTTTCTTTCTTT T	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	1/9			chr4	TogoVar
ELFN2_chr22_37362960_37432479	37427057	G G	GCCTCCGC others(18): Show GCCTCCGCCCACCGCCACCACCACCA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0097 a0001c0001t0097	a0001c0001t0097g0324 a0001c0001t0097g0324	1	334	0.0030	25	c.-61 others(42): Show c.-614+216_-614+240dupTGGTGGTGGTGGCGGTGGGCGGAGG	ELFN2	ENSG00000166897.16	transcript	ENST00000402918.7	protein_coding	1/2			chr22	TogoVar
ELK1_chrX_47630521_47655563	47645976	T T	TTTCCTCC others(18): Show TTTCCTCCTATACATAGTGATGTTTG	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	276	0.0036	25	c.-35 others(42): Show c.-35+3944_-35+3945insCAAACATCACTATGTATAGGAGGAA	ELK1	ENSG00000126767.18	transcript	ENST00000376983.8	protein_coding	2/6			chrX	TogoVar
ELL_chr19_18437663_18527070	18454840	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 NA20300.hp2 HG00280.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0215 a0001c0001t0001g0149 a0001c0001t0001g0215	2	244	0.0082	25	c.870 others(42): Show c.870-3193_870-3192insTTTTTTTTTTTTTTTTTTTTTTTTT	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	6/11			chr19	TogoVar
ELMO1_chr7_36847906_37453864	36849025	C C	CTCTTTTT others(18): Show CTCTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0082 a0001c0001t0003g0082	1	92	0.0109	25	c.65 others(36): Show c.6525_*6526insAAAAAAAAAAAAAAAAAAAAAAAGA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding		3880		chr7	TogoVar
ELMO1_chr7_36847906_37453864	36899684	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01978.hp2 HG02080.hp1 others(2): Show HG01106.hp2 HG01978.hp2 HG02080.hp1 HG03927.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0003 a0001c0001t0003 a0001c0002t0003	a0001c0001t0003g0017 a0001c0001t0003g0026 a0001c0002t0003g0028 others(2): Show a0001c0001t0003g0017 a0001c0001t0003g0026 a0001c0002t0003g0028 a0001c0002t0003g0032 a0001c0002t0003g0037	5	92	0.0544	25	c.143 others(44): Show c.1438-4668_1438-4667insAAAAAAAAAAAAAAAAAAAAAAAAA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	16/21			chr7	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GCGGGTGT others(18): Show GCGGGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	312	0.0032	25	c.-47 others(36): Show c.-4772_-4771insACACACACACACACACACACACCCG	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELOC_chr8_73940119_73977191	73975355	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0101	1	404	0.0025	25	c.-33 others(36): Show c.-3330_-3329insAAAAAAAAAAAAAAAAAAAAAAAAA	ELOC	ENSG00000154582.18	transcript	ENST00000520242.6	protein_coding		3165		chr8	TogoVar
ELOC_chr8_73940119_73977191	73976203	G G	GGCAGTCG others(18): Show GGCAGTCGGGTGGGAAGCCGTGTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp1 NA19004.hp2 NA19080.hp2 NA18951.hp1 NA19004.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0133 a0001c0001t0003g0027 a0001c0001t0003g0133	3	404	0.0074	25	c.-42 others(36): Show c.-4202_-4178dupGAGACACGGCTTCCCACCCGACTGC	ELOC	ENSG00000154582.18	transcript	ENST00000520242.6	protein_coding		4013		chr8	TogoVar
ELOVL2_chr6_10975759_11049305	10978305	A A	ATATATAT others(18): Show ATATATATATATATATAATTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	380	0.0026	25	c.54 others(36): Show c.5475_*5476insAAAAAAAATTATATATATATATATA	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding		2453		chr6	TogoVar
ELOVL2_chr6_10975759_11049305	11043471	C C	CACACACA others(18): Show CACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp2 HG02451.hp1 others(4): Show HG01884.hp1 HG02257.hp2 HG02451.hp1 HG02647.hp1 HG02976.hp2 HG03195.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0006 a0001c0001t0010 a0001c0007t0018 a0001c0001t0006 a0001c0001t0010 a0001c0007t0018	a0001c0001t0006g0027 a0001c0001t0006g0207 a0001c0001t0006g0210 others(3): Show a0001c0001t0006g0027 a0001c0001t0006g0207 a0001c0001t0006g0210 a0001c0001t0010g0013 a0001c0001t0010g0208 a0001c0007t0018g0209	7	380	0.0184	25	c.3+7 others(36): Show c.3+756_3+757insTGTGTGTGTGTGTGTGTGTGTGTGT	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding	1/7			chr6	TogoVar
ELOVL6_chr4_110040846_110203615	110084148	T T	TATATAAC others(18): Show TATATAACATATATATGATATATATG	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0309 a0001c0001t0002g0309	1	338	0.0030	25	c.221 others(44): Show c.221+21348_221+21349insCATATATATCATATATATGTTATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084169	A A	ATATATGA others(18): Show ATATATGATATATATAACATATAACT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02723.hp1 HG02896.hp2 others(2): Show HG01975.hp2 HG02723.hp1 HG02896.hp2 HG03486.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0009 a0001c0001t0028 a0001c0001t0007 a0001c0001t0009 a0001c0001t0028	a0001c0001t0007g0257 a0001c0001t0009g0021 a0001c0001t0009g0023 others(2): Show a0001c0001t0007g0257 a0001c0001t0009g0021 a0001c0001t0009g0023 a0001c0001t0028g0049 a0001c0001t0028g0247	5	338	0.0148	25	c.221 others(44): Show c.221+21303_221+21327dupAGTTATATGTTATATATATCATATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084426	C C	CATATATC others(18): Show CATATATCATATATATCACATATATG	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0197 a0001c0001t0005g0197	1	338	0.0030	25	c.221 others(44): Show c.221+21070_221+21071insCATATATGTGATATATATGATATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084433	C C	CATATATG others(18): Show CATATATGATATATCACATATATGAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0030 a0001c0002t0030	a0001c0002t0030g0248 a0001c0002t0030g0248	1	338	0.0030	25	c.221 others(44): Show c.221+21063_221+21064insATCATATATGTGATATATCATATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084436	A A	ATATGATA others(18): Show ATATGATATATCACATATATGATATG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00609.hp2 others(37): Show HG00140.hp1 HG00323.hp2 HG00609.hp2 HG01361.hp2 HG02004.hp1 HG02027.hp2 HG02055.hp1 HG02074.hp2 HG02129.hp1 HG02523.hp2 HG02895.hp2 HG02897.hp2 HG02976.hp2 HG03491.hp1 HG04184.hp1 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18947.hp1 NA18949.hp2 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18981.hp2 NA18985.hp2 NA18988.hp1 NA18993.hp1 NA18994.hp1 NA18999.hp2 NA19000.hp1 NA19007.hp1 NA19009.hp2 NA19064.hp2 NA19074.hp1 NA19082.hp2 NA19084.hp1 NA20129.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0013 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0031 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0046 a0001c0001t0080 a0001c0001t0081	a0001c0001t0001g0125 a0001c0001t0001g0276 a0001c0001t0002g0236 others(37): Show a0001c0001t0001g0125 a0001c0001t0001g0276 a0001c0001t0002g0236 a0001c0001t0002g0288 a0001c0001t0004g0145 a0001c0001t0004g0271 a0001c0001t0005g0091 a0001c0001t0005g0092 a0001c0001t0006g0066 a0001c0001t0006g0088 a0001c0001t0006g0093 a0001c0001t0006g0113 a0001c0001t0006g0117 a0001c0001t0006g0120 a0001c0001t0006g0130 a0001c0001t0006g0193 a0001c0001t0006g0222 a0001c0001t0006g0231 a0001c0001t0006g0278 a0001c0001t0006g0280 a0001c0001t0006g0296 a0001c0001t0006g0326 a0001c0001t0012g0085 a0001c0001t0013g0011 a0001c0001t0013g0012 a0001c0001t0013g0266 a0001c0001t0013g0283 a0001c0001t0022g0105 a0001c0001t0022g0106 a0001c0001t0024g0154 a0001c0001t0024g0245 a0001c0001t0025g0256 a0001c0001t0031g0294 a0001c0001t0031g0320 a0001c0001t0039g0090 a0001c0001t0040g0230 a0001c0001t0042g0058 a0001c0001t0046g0006 a0001c0001t0080g0104 a0001c0001t0081g0068	40	338	0.1183	25	c.221 others(44): Show c.221+21060_221+21061insCATATCATATATGTGATATATCATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084440	G G	GATATATC others(18): Show GATATATCACATATATGATATATCAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01975.hp2 HG02723.hp1 others(4): Show HG00738.hp1 HG01975.hp2 HG02723.hp1 HG02895.hp1 HG02896.hp2 HG03486.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0009 a0001c0001t0028 others(1): Show a0001c0001t0007 a0001c0001t0009 a0001c0001t0028 a0001c0001t0077	a0001c0001t0007g0257 a0001c0001t0009g0019 a0001c0001t0009g0021 others(4): Show a0001c0001t0007g0257 a0001c0001t0009g0019 a0001c0001t0009g0021 a0001c0001t0009g0023 a0001c0001t0028g0049 a0001c0001t0028g0247 a0001c0001t0077g0056	7	338	0.0207	25	c.221 others(44): Show c.221+21056_221+21057insATGATATATCATATATGTGATATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084589	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0240 a0001c0001t0002g0240	1	338	0.0030	25	c.221 others(44): Show c.221+20907_221+20908insTATATATATATATATATATATATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02896.hp1 HG02897.hp1 others(1): Show HG00735.hp2 HG02896.hp1 HG02897.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0018 a0001c0001t0039 a0001c0001t0016 a0001c0001t0018 a0001c0001t0039	a0001c0001t0016g0177 a0001c0001t0018g0041 a0001c0001t0018g0042 others(1): Show a0001c0001t0016g0177 a0001c0001t0018g0041 a0001c0001t0018g0042 a0001c0001t0039g0090	4	338	0.0118	25	c.90- others(42): Show c.90-12276_90-12275insATATATATATATATTTTTTTTTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(18): Show AAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0303	1	338	0.0030	25	c.90- others(42): Show c.90-12276_90-12275insATATATATATATATATTTTTTTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(18): Show AAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0271 a0001c0001t0004g0271	1	338	0.0030	25	c.90- others(42): Show c.90-12276_90-12275insATATATATATATATATATTTTTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAT others(18): Show AAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0301 a0001c0001t0002g0301	1	338	0.0030	25	c.90- others(42): Show c.90-12276_90-12275insATATATATATATATATATATTTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0200 a0001c0001t0006g0200	1	338	0.0030	25	c.90- others(42): Show c.90-12276_90-12275insATATATATATATATATATATATTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar

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